【手続補正書】
【提出日】平成17年1月11日(2005.1.11)
【手続補正１】
【補正対象書類名】特許請求の範囲
【補正対象項目名】全文
【補正方法】変更
【補正の内容】
【特許請求の範囲】
【請求項１】
診断および治療目的の遺伝子パネルを開発する方法であって、
a）ｍＲＮＡおよび／またはタンパク質を含有する少なくとも２グループの生体材料の各々から少なくとも１の生体試料を単離するステップ；
b）生体試料の少なくとも１における少なくとも１の遺伝子の発現レベルを分析し；
c）該少なくとも２グループの生体材料の間で異なる発現レベルを呈する遺伝子を選択するステップ、これにより第一知識ベースを作成する；
d）ステップａ）の少なくとも１の生体試料の少なくとも１の遺伝子のメチル化関連領域におけるシトシンのメチル化レベルを分析するステップ、ここで遺伝子は第一知識ベースに基づいて選択する；
ｅ) 該少なくとも２グループの生体材料の間で異なるシトシンメチル化レベルを呈する遺伝子を選択するステップ、これにより第二知識ベースを作成する；および
ｆ) 第二知識ベースから選択した遺伝子を遺伝子パネルに追加するステップ；
を含む方法。
【請求項２】
生体試料中の少なくとも１の遺伝子の発現レベル分析が該少なくとも１の遺伝子由来のｍＲＮＡまたはタンパク質の相対量を決定することを含む請求項１に記載の方法。
【請求項３】
少なくとも２個の遺伝子の発現レベルを並行して分析することを特徴とする請求項１または２に記載の方法。
【請求項４】
少なくとも２個の遺伝子が並行して選択されることを特徴とする請求項１ないし３のいずれか１に記載の方法。
【請求項５】
少なくとも２個の遺伝子のシトシンメチル化レベルを並行して分析することを特徴とする請求項１ないし４のいずれか１に記載の方法。
【請求項６】
少なくとも２個の遺伝子が並行して選択されることを特徴とする請求項１ないし５のいずれか１に記載の方法。
【請求項７】
ａ）からｆ）のステップが繰り返されることを特徴とする請求項１ないし６のいずれか１に記載の方法。
【請求項８】
請求項１ないし７のいずれか１に記載の方法に従って得られる遺伝子パネル。
【請求項９】
疾患診断に使用するための請求項８に記載の遺伝子パネル。
【請求項１０】
請求項８に記載の遺伝子パネルを形成する装置であって、請求項１記載の第一および第二知識ベースを形成する手段；および第二知識ベースからの選択した遺伝子を遺伝子パネルに追加する手段を含む装置。
【請求項１１】
疾患を診断する装置であって、
ａ）請求項８に記載の遺伝子パネルを提供するステップ；
ｂ）既知の疾患的または医学的条件を持つ少なくとも１の疾患個体および／または少なくとも１の健常個体の生体材料における該遺伝子パネルに基づくＤＮＡの選択部位でのシトシンメチル化レベルを分析し、それによって第一知識ベースを作成するステップ；
ｃ）未知の疾患的または医学的条件を持つ少なくとも１の疾患個体の生物学的材料における該遺伝子パネルに基づくＤＮＡの選択部位でのシトシンメチル化レベルを分析し、それによって第二知識ベースを作成するステップ；
ｄ）第一および第二知識ベースを比較するための複数個のエキスパートルールを含む第三知識ベースを提供するステップ；および
ｅ）該第一から第三知識ベースに基づいて、未知の疾患的または医学的条件を持つ少なくとも１の疾患個体に対する疾患的または医学的条件の型を選択するステップ；
を含む装置。
【請求項１２】
薬剤の望ましからざる副作用、癌、中枢神経系（ＣＮＳ）の機能不全、障害または疾患、攻撃的症状または行動上の疾患、脳障害、精神障害および人格障害の臨床的、心理的および社会的結果、痴呆および／または随伴症候、心臓循環系の疾患、機能不全または障害、消化管系の疾患、機能不全または障害、呼吸器系の疾患、機能不全または障害、外傷、炎症、感染、免疫および／または回復、発達過程における変異の結果としての疾患、機能不全または障害、皮膚、筋肉、結合組織または骨の疾患、機能不全または障害、内分泌系または代謝系の疾患、機能不全または障害、頭痛、および性的機能不全、または以上の組み合わせの診断のための、請求項１１に記載の装置。
【請求項１３】
疾患的および／または医学的条件を処置する装置であって、
ａ）請求項１１に記載の装置による診断を提供すること；および
ｂ）該診断された疾患的および／または医学的条件に対する特定の処置を設定すること；
を含む装置。
【請求項１４】
薬剤の望ましからざる副作用、癌、中枢神経系（ＣＮＳ）の機能不全、障害または疾患、攻撃的症状または行動上の疾患、脳障害、精神障害および人格障害の臨床的、心理的および社会的結果、痴呆および／または随伴症候、心臓循環系の疾患、機能不全または障害、消化管系の疾患、機能不全または障害、呼吸器系の疾患、機能不全または障害、外傷、炎症、感染、免疫および／または回復、発達過程における変異の結果としての疾患、機能不全または障害、皮膚、筋肉、結合組織または骨の疾患、機能不全または障害、内分泌系または代謝系の疾患、機能不全または障害、頭痛、および性的機能不全、または以上の組み合わせの治療のための、請求項１３に記載の装置。
【手続補正２】
【補正対象書類名】明細書
【補正対象項目名】全文
【補正方法】変更
【補正の内容】
【発明の詳細な説明】
【発明の名称】診断および治療目的の遺伝子パネルを遺伝子の発現およびメチル化状態に基づいて開発する方法
【技術分野】
【０００１】
本発明は、診断および治療目的の遺伝子パネルの開発方法に関する。更に本発明は、本発明方法を使用して開発した遺伝子パネルおよびその使用に関する。
【背景技術】
【０００２】
近年の分子生物学における方法論的進展の結果、観察レベルが十分に検討されるようになった対象に、遺伝子自体、遺伝子のＲＮＡにおける翻訳、およびその結果としてのタンパク質が挙げられる。個体が成長する過程で遺伝子は何時スイッチオンになるか、またある細胞および組織において遺伝子の活性化および抑制化はどのようにして制御されるかということを、その遺伝子またはゲノムにおけるメチル化の程度および特性に、高度の蓋然性をもって関連付けることが可能である。これに関し、発病条件は個々の遺伝子またはゲノムにおけるメチル化パターンの変化に現れると推定するのは合理的である。
【０００３】
１．細胞表現型の分子的解析に関する技術水準
【０００４】
遺伝子発現の研究はＲＮＡレベルまたはタンパク質レベルで可能である。両レベルは原理的には重要な表現型のパラメーターを反映している。二次元ゲルを使用するタンパク質測定法（マクファーレル法）は約１５年間既知である。これらの測定法を使用して、数千個のタンパク質をクロマトグラフ上の位置で精密に解析することができる。非常に初期の段階で、そのような電気的フェログラムはデータ処理手段をもって既に作成され評価されていた。原理的には、この方法の有効性は高いが、しかしながらＲＮＡ解析に基づく遺伝子発現の新しい方法には二つの点で劣る。
【０００５】
細胞タンパク質の包括的な分析は最近プロテオミクスと称されており、ポストゲノム時代に進展している重要な研究領域である。プロテオミクスは、二次元（２Ｄ）ゲル電気泳動、画像解析、質量分析法、アミノ酸シーケンシング、およびバイオインフォマティクス等の最新式の技法を利用してタンパク質を包括的に解明し、定量し、特徴付けする(概説参照、ChambersGら、「プロテオミクス：疾患研究への新たなアプローチ」
J Pathol 2000 Nov; 192 (3): 280-8； Banks REら、「プロテオミクス：新たな展望、新たな生物医学の好機」 Lancet
2000 Nov 18; 356(9243): 1749-56)。
【０００６】
プロテオミクスはまたポストゲノム時代における遺伝子機能の解明に大いに寄与すると言われる。プロテオミクスは三つの主要な領域、すなわち（１）タンパク質の大規模同定およびその翻訳後の修飾のためのタンパク質のミクロ特徴化、（２）タンパク質レベルを広範な疾患における潜在的な適用をもって対比するための「ディファレンシャルディスプレイ」プロテオミクス、および（３）質量分析法あるいは酵母のツーハイブリッドシステム等の技法を使用するタンパク質−タンパク質の相互作用の研究、に分けることができる。タンパク質の機能を他のタンパク質あるいはその三次元構造との相同性に基づいて予測することは困難な場合が多いので、タンパク質複合体の成分および細胞構造を決定することが機能解析の中心となる(Pandey
Aら、「遺伝子およびゲノム研究のためのプロテオミクス」 Nature 2000 Jun15;  405(6788): 837-46)。
【０００７】
高等真核細胞は複雑なので、プロテオームを単一ステップで特徴化することは達成困難であろう。Jungら（「プロテオミクスと細胞生物学の出逢い：細胞以下のプロテオームの確立」Electrophoresis
2000 Oct;  21(16)  3369-77）は、細胞未満プロテオームを確立するために、例えば細胞以下の成分、細胞小器官、高分子構造体および多タンパク質複合体等の細胞の高分子構造物を利用することができると記述している。
【０００８】
最近の技術進歩にもかかわらず、また決定的に重要なことでありながら、少量細胞からタンパク質を探知することは未だ成功していない。その理由は使用する方法の感度が極めて低いという現実があるからである。実際、核酸と違ってタンパク質は増幅できない。更に、その方法は極めて複雑であり、自動化に馴染まず、かつ極めて経費がかかる。反対に、RNA分析にはかなりの利点があり、PCRを利用するのでさらに感度がよい。結局、重要と認められたRNA種はそれぞれその配列によって直ちに同定することができる。
【０００９】
配列既知の個々のRNAにおける過剰発現または発現不足は通常容易に探知することができる。しかしながら、本明細書で検討する応用との関連でそれら発現が有用となるのは例外的な事例のみである。
【００１０】
「ディファレンシャルディスプレイ」の方法は、せいぜい発現の半定量的な研究を可能にする。PCRで増幅された発現産物はゲル電気泳動により分離される。その有用性はゲル電気泳動の解像度の結果としての制限を受ける。更に、この方法は日常的な診断に使用するには感度が不十分であり荒削りである（Liang,
PおよびPardee, A.B., Science 257, 967-971）。
【００１１】
過剰発現または発現不足の高い遺伝子がしばしば差引きハイブリダイゼーション形成法で同定されている。この場合、検査対象の細胞または組織のcＤＮＡクローンをプレートに置き、このクローンに対する比較材料としてcＤＮＡをハイブリダイズする。この方法では発現パターンを信頼性よく作成することができない。
【００１２】
Sturtevantら（「ディファレンシャルディスプレイ逆転写PCRの分子病因論および医学菌類学への応用」ClinMicrobiol Rev 2000
Jul;13(3):408-27）は、宿主−菌類の相互作用の特徴を宿主と病因物における遺伝子発現の変化によって説明している。ディファレンシャルディスプレイ逆転写PCR(DDRT-PCR)はPCRを基礎とする方法であり、いくつかの細胞集団における遺伝子発現の広範囲な分析を可能にする。DDRT-PCRは哺乳動物の系における生物学的問題、例えば細胞分化、細胞活性化、細胞ストレス、および薬物標的の同定に向けて使用されてきた。微生物病因論および植物病因論では、DDRT-PCRにより毒性因子、細胞死に係わる遺伝子、およびシグナル遺伝子の同定を可能にした。また、To（「高処理量分析による分化細胞の発現の同定」Comb
Chem High Throughout Screen 2000 Jun; 3(3): 235-41）は、分化細胞発現の高処理量分析を分子細胞生物学の多くの領域、例えば分化、発達、生理、および薬理に適用可能な有力なツールであると記載している。近年、差次的遺伝子発現を分析するために、各種の技法、例えば比較発現配列タグシーケンシング、ディファレンシャルディスプレイ、レプレゼンテイショナルディファレンス分析、ｃＤＮＡまたはオリゴヌクレオチドアレイ、および遺伝子発現の連続分析が開発されてきた。同様の戦略を、Oetting(「遺伝子発現分析」Pigment
Cell Res 2000 Feb; 13(1): 21-7)およびWatson（「哺乳動物の発達する脳における新規ステージに特異的なタンパク質を同定するためのディファレンシャルｃＤＮＡスクリーニング戦略」Dev
Neurosci 1993; 15(2): 77-86）が記載している。
【００１３】
米国「ヒトゲノムプロジェクト」の一つの活動は、発現された遺伝子の体系的なシーケンシングである。これから得られるデータを使用すれば発現チップを作成することができ、これにより一つの実験で実際上全ての細胞または組織タイプの発現配列を研究することが可能である。
【００１４】
２．癌疾患の分析における技術水準
【００１５】
遺伝子の変異は、癌疾患、すなわち細胞の形質転換を誘発可能とする。これらの変異の原因は、外因的な影響または細胞における事象でありうる。少数の例外事例では、単一の変異がしばしばゲノムの大きな領域に影響を及ぼし(転座、欠損)、その結果細胞が変性するが、多くの場合には異なる遺伝子上に変異の連鎖が起こり、それらが結合するだけで悪性疾患に至る。ＤＮＡレベルにおけるこれらの変化は、ＲＮＡおよびタンパク質のレベルにも反映する。この状況では増殖が起きている可能性が高い。理由は、多くの場合に一つのＲＮＡの量と型は確実にいくつかの他のＲＮＡ種の合成範囲に影響を与えるからである。このことは対応するタンパク質の合成速度を変化させ、次にそれが代謝を制御解除させる結果となり、制御および反制御のメカニズムが立ち上がる。その結果、問題としている細胞の極めて特異的な（しかしおおむね測定不可能な）様式で変化した遺伝子発現パターンとなる。特異的と言っているのは或る種の癌腫に、その癌腫のステージに、およびその癌腫の悪性の程度にという意味である。これまでこのような現象は自然科学の研究範囲外であった。事実、細胞における遺伝子発現または代謝を包括的に検査することは不可能であった。チップ技法によって初めて上記の可能性が得られた（Schena,
Mら、Science 270, 467-470）。
【００１６】
今日、分子レベルで癌を早期診断する課題に取り組むと、解決できない困難に直面する。殆ど例外無く、大部分の腫瘍では、分子上の事象、すなわちいろいろな変異についてその知識は専ら断片的である。医学的検査材料における探査対象が研究者には分からない。これは、ポリメラーゼ連鎖反応の顕著な感度および特異性を利用することが全く不可能であることを意味する。例えば、或る腸癌、ユーイング肉腫、および或る形態の白血病は単一の精密に記述された変異によってそれぞれ定義されているので、これらの場合には数百万の正常細胞中のその変性細胞を同定することができる。しかしながら、これら明瞭で紛れなく定義される腫瘍群の間でさえ挙動上の差異があり、したがって未知の追加遺伝子パラメーター(例えば、個別の遺伝子的背景)が重要な役割を演ずるというような結論をしなければならない。免疫的腫瘍マーカーは役立つ補助パラメーターであるが、それらの寄与は依然として消極的であり、他の通常の診断パラメーターに追加されるに過ぎない。しかし、疑義のある細胞を予め選択する目的には使用できる。
【００１７】
組織学は変質組織の同定において重要かつ不可欠の役割を演ずるが、初期診断では正確ではない。
【００１８】
このように、大部分の腫瘍は診断目的のための分子レベルでの特徴化が十分になされていないので、通例、ステージへの細分化あるいは危険度による細分化に踏み込む可能性が存在しない。しかし、そのような細分化は治療選択の改善、およびとりわけ有効な新薬物および遺伝子治療のためには必須条件である。
【００１９】
３．可能性がある安定状態にある高等微生物細胞の数、型および特性の研究の技術水準
【００２０】
近時、独立の複合制御系（その優れた例は細胞制御）は、放置されると、最小の複合性より上でかつ（ある構成部分が連関する構成部分の平均数の）最大の連関性より下の限られた数の安定状態でのみ存在できるという指摘が増加している(Kauffman,S.
A. 秩序の起点Oxford University Press, 1993)。ここで、状態という語は包括的な現象に対する選択の概念として理解するのが好ましい。生体制御系としての細胞との連関において、分化状態あるいは細胞型も語ることができる。そのような連関は証明されていないし、また生体系のための単に限られた安定状態さえ証明されていないが、その実際的な意義は極めて重要であるはずである。一定の情報内容を持つ生物細胞（実際にそのような一定性は基本的に一つの種の中に存在する）について、もし限られた数の安定状態しか存在しないなら、可能性としては変質細胞も同様に唯ひとつの状態または可能性がある状態間を渡る遷移途上にあるはずであろう。この時点ではこれらの状態は分子を基礎にして定義することはできない。個々の状態と細胞の挙動の関連付けを技術水準に従って実現することは殆ど不可能である。しかしながら、そのような分析ができれば、それは疾患の診断および予測に決定的な寄与をなすことができる。疾患細胞に可能性のある状態と最も適切な治療の間の関連の確立が可能でさえある。更に、このような方法が治療時期の決定に決定的な影響を持つことも同様に可能である。例えば、腫瘍細胞が可能性のある状態間を渡る遷移途上にあることを発見しようとする場合には、この細胞集団が治療に由来する選択した圧迫条件に屈する可能性は一層大きいと考えられ、したがって疾患からの脱却はそれだけ容易になると仮定できるであろう。遷移状態の範囲にあるこのシナリオの細胞集団はかなり増大した柔軟性を持っており、可能な安定状態に送り込むことは容易であろう。しかしこの状態では選択した圧迫条件は除去され、治療は効果を持たないであろう。
【００２１】
細胞および細胞群を状態に従って分類することのできる方法があれば、それはまた問題の認識、理解および可能な解決に寄与するであろう。しかしながら、技術水準では細胞に限られた数だけの状態が存在するかどうかを決定することは不可能であり、したがって、それら状態に関する抽象的な基準によって細胞グループを区分すること、および細胞のある挙動を持つ状態を予知することはできない。
【００２２】
４．遺伝性疾患
【００２３】
今日、ヒトゲノムの遺伝子地図は２５００個のいわゆるマイクロサテライトを包含している。この道具を使用して、多数の遺伝子、通常は欠損すると遺伝子疾患の原因となる遺伝子を連鎖解析により位置付け、次にそれらを同定している。１個の欠損遺伝子により起こる通常の遺伝子疾患は遺伝学者原理の観点から解明されるが、複数遺伝子による疾患も同様にこの方法で理解するのが好ましい。複数遺伝子による疾患の多くは極めて多く発生し、多く発生する結果いわゆる広範囲疾患の中に包括されている。喘息および糖尿病はその例である。癌腫のタイプの多くも包括されている。連鎖解析の上記戦略を使用することにより、大きな初期の成功も生み出した。多くの場合に、糖尿病、精神分裂病、アテローム性動脈硬化症および肥満症等の重要な複数遺伝子疾患の、多数の原因遺伝子が見出されている。分子生物学の研究技法固有の有用性以外に、各疾患に冒された比較的多数の患者と親族の利用可能性が遺伝子的解明には決定的な要件である。過去二年間で、複数遺伝子疾患の連鎖解析に元々使用された数百の患者数は、ほぼ確実に大きさが一桁低すぎたことが明らかとなった。いずれにせよ、これは、原因遺伝子の全スペクトルを解明すべき場合に当てはまる。この連鎖解析に必要な手作業のレベルが極めて高いので、複数遺伝子疾患の分析において期待できる進行は極めて緩慢なものでしかない。この種の疾患は正に極めて社会的かつ経済的に重要なものであるから、他の戦略が求められている。
【００２４】
５．メチル化分析の技術水準
【００２５】
遺伝子塩基シトシンが5'-メチルシトシンに変化するのは、現在まで最も重要な後生的パラメーターを代表するものとして最もよく検討されてきた。しかしながら、細胞および個体の包括的な遺伝子表現型を決定する方法は今日存在するが、後生的遺伝子表現型に関する情報を大規模に生産し評価する、匹敵する方法は今日まで存在しない。
【００２６】
原理的には、シトシンの5-メチル状態を配列状況で決定する方法は三つあるが、それぞれ原理は異なる。
【００２７】
第一の方法は、原理的には、メチル化に感受性をもつ制限エンドヌクレアーゼ（ＲＥ）の使用に基づく。ＲＥの特徴は、通常４〜８塩基長の或る種のＤＮＡ配列のＤＮＡに切断を入れることである。この切断位置は、ゲル電気泳動、膜への転移およびハイブリダイゼーションによって検知することができる。メチル化感受性ということは、その認識配列内の或る塩基はメチル化が生起している段階中はメチル化されてはならないということである。その結果、制限切断およびゲル電気泳動後のバンドのパターンがＤＮＡのメチル化パターンに応じて変化する。しかしながら、メチル化が可能であっても大部分のＣｐＧはＲＥ認識配列の外側にあるので検査することができない。
【００２８】
この方法の感度は極めて低い（Bird,A.P.、Southern, E. M. J. Mol. Biol. 118, 27-47）。この方法とＰＣＲを組み合わせる変法はある。すなわち、認識配列がメチル化形である場合にのみ、認識配列の両側に位置する二つのプライマーによる増幅が切断後に起こる。この場合には、理論的には感度は標的配列の１個の分子にまで増大するが、個々の位置が検査できるだけであって、費用は大きい（Shemer,Rら、PNAS
93, 6371-6376）。
【００２９】
第二の変法は、全ＤＮＡの部分的な化学開裂に基づいており、Maxam-Gilbertのシーケンシング反応モデル、生成した末端へのアダプターの結合、一般的なプライマーでの増幅、およびゲル電気泳動による分別を用いている。この方法を使用すると、塩基対が数千未満のサイズの一定領域は検査することができる。しかしながら、この方法は非常に複雑で信頼性がないために実際にはもはや使用されていない（Ward,Cら、J.
Biol. Chem. 265, 3030-3033）。
【００３０】
ＤＮＡを検査し5-メチルシトシンの存在を決定する新たな方法は、亜硫酸水素塩とシトシンの特異的反応に基づく。後者は適切な条件下でウラシルに転換され、これは塩基対に関する限りチミジンと同じであり、また他の塩基にも対応する。5-メチルシトシンは変化しない。したがって、原ＤＮＡを、元々ハイブリダイゼーションの挙動によりシトシンから区別することができなかったメチルシトシンに、現在は「通常の」分子生物学的技法により検知可能な手法で、転換させる。これらの手法は全て塩基対合に基づいており、この対合は現在では完全に実行可能である。技術水準は、感度に関する限り、方法上の制限を受ける。すなわち、その方法では、ＤＮＡの拡散と復元（亜硫酸水素塩は一本鎖ＤＮＡとのみ反応する）を防止し沈殿精製を全て迅速透析で代行する目的のために検査対象のＤＮＡはアガロースマトリックス中に含有される(Olek,Aら、Nucl.
Acids Res. 24, 5064-5066)。この方法を使用すると、個々の細胞は検査可能であり、このことはこの方法の有用性を示している。しかしながら、長さ約３０００塩基対までの領域が現在まで検査されているに過ぎず、数千の可能なメチル化事象を同定する総合的な細胞検査を行うことはできない。この方法は小さな試料量からの微小な画分を信頼性よく分析することができない。このような試料の拡散は防止されるが、マトリックスを介して失われる。
【００３１】
６．メチル化とヒト疾患の診断に関する技術水準
【００３２】
過去にメチル化パターンの変化を分析した目的は、疾患の発生または進行に伴う遺伝子的メカニズムを研究し解明することであった。この研究全体は１回につき唯１個の遺伝子/染色体領域を検査するという断片ずつ行う方式で行われた。メチル化パターンの変化に基づく診断／治療用療法はなかった。事実、メチル化パターンの変化に関連する疾患のタイプは、メチル化分析を実施するまでもなく判明した。したがって、以下の刊行物はメチル化パターンの変化と疾患との間の漠然とした関連を示すに留まっている。変化の中にはＤＮＡの選択部位における高メチル化または低メチル化も含まれている。
【００３３】
メチル化パターンの変化に関連する疾患は、例えば以下のとおりである。
【００３４】
白血病(Aoki Eら、「骨髄形成異状症候群における造血前駆体および末梢血細胞のp15INK4B遺伝子のメチル化状態」Leukemia 2000 Apr;
14(4): 586-93； Nosaka Kら、「CDKN2A遺伝子のメチル化増加は成人Ｔ細胞白血病の進行と関連する」Cancer Res 2000 Feb
15; 60 (4): 1043-8; Asimakopoulos FAら、「ABL1メチル化は慢性骨髄性白血病のクローン評価に関連する明瞭な分子事象である」Blood1999
Oct 1;94(7):2452-60； Fajkusova  L.ら,「CML患者および二つの細胞株K56およびBV173のbcr-abl座のPaプロモーターを囲むCpG島におけるメチルシトシンの位置の詳細な地図」Blood
Cells Mol Dis 2000 Jun; 26 (3): 193-204； Litz CEら、「フィラデルフィア染色体陰性白血病における主要な切断点クラスター領域のメチル化状態」Leukemia
1992 Jan; 6(1): 35-41)。
【００３５】
頭頚部癌（Sanchez-Cespedes Mら、「頭頚部癌患者の腫瘍および血清における遺伝子プロモーターの高メチル化」CancerRes 2000 Feb
15; 60(4): 892-5）。
【００３６】
ホジキンス疾患（Garcia JFら,「p16INK4Aのメチル化に関連するp16タンパク質発現欠損がホジキンス疾患で頻繁に見られる」Lab Invest
1999 Dec; 79(12): 1453-9）。
【００３７】
胃癌（Yanagisawa Yら、「家族性胃癌におけるhMLH1プロモーターの、マイクロサテライトの不安定性に伴うメチル化」Int J Cancer
2000 Jan 1; 85(1): 50-3）。
【００３８】
前立腺癌（Rennie PSら、「前立腺癌の進行に対する後生的遺伝メカニズム」Cancer Metastasis Rev 1998-99; 17(4):
401-9）。
【００３９】
腎臓癌（Clifford SCら、「フォンヒッペルリンダウ（ＶＨＬ）腫瘍抑制遺伝子の不活性化および原発性腎細胞癌における染色体腕3pでの対立遺伝子欠損：明瞭な細胞性腎腫瘍形成におけるＶＨＬ依存性経路の証拠」Genes
Chromosomes Cancer 1998 Jul; 22(3): 200-9）。
【００４０】
膀胱癌（Sardi Iら、「表面および局所で進行した膀胱癌におけるc-myc発癌遺伝子の分子遺伝子的変異」Eur Urol 1998;
33(4):424-30）。
【００４１】
乳癌（Mancini DNら、「BRCA1遺伝子の5'制御領域内CpGメチル化は腫瘍特異的であり、推定上のCREB結合性部位を含んでいる」Oncogene
1998 Mar 5; 16(9): 1161-9； Zrihan-LichtSら、「乳癌関連タンパク質をコードするMUC1遺伝子のＤＮＡメチル化状態」Int
J Cancer 1995 Jul 28; 62(3): 245-51； Kass DHら、「乳癌に関連する染色体上ホットスポットのＤＮＡメチル化検査」AnticancerRes
1993 Sep-Oct; 13(5A): 1245-51）。
【００４２】
バーキットリンパ腫（Tao Qら、「風土病性バーキットリンパ腫におけるエプスタインバーウイルス（ＥＢＶ）：原発性腫瘍組織の分子的分析」Blood 1998
Feb 15; 91(4): 1373-81）。
【００４３】
ウィルムス腫瘍（Kleymenova EVら、「ウィルムス腫瘍抑制遺伝子における腫瘍特異的メチル化部位の同定」Oncogene 1998 Feb 12;
16(6): 713-20）。
【００４４】
プレーダー−ウィリー／アンゲルマン症候（Zeschnighら、「ヒトゲノムにおける刷込まれたセグメント：ゲノム配列法によって決定した、プレーダー−ウィリー／アンゲルマン症候領域におけるＤＮＡメチル化の異なる諸パターン」Human
Mol. Genetics (1997)(6)3 pp387-395； Fang Pら、「アンゲルマン症候の原因であるUBE3A変異のスペクトル」Hum
Mol Genet 1999 Jan; 8(1): 129-35）。
【００４５】
ＩＣＦ症候（Tuck-Mullerら，「ＩＣＦ症候患者由来細胞株におけるＣＭＤＮＡ低メチル化および染色体の異常な不安定性」Cytogenet Cell
Genet 2000; 89(1-2): 121-8）。
【００４６】
皮膚繊維腫（Chen TCら、「皮膚繊維腫はクローン増殖性疾患である」J Cutan Pathol 2000 Jan;27(1):36-9）。
【００４７】
高血圧（Lee SDら、「モノクロナール内皮細胞の増殖は原発的肺性高血圧で存在し、二次的肺性高血圧では存在しない」J Clin Invest 1998
Mar 1; 101(5): 927-34）。
【００４８】
小児の中枢神経生物学（Campos-Castello Jら、「ゲノム『刷込み現象』と臨床神経小児科学におけるその意義」Rev Neurol 1999 Jan
1-15; 28(1): 69-73）。
【００４９】
自閉症（Klauck SMら、「自閉症患者集団におけるＦＭＲ−１遺伝子の分子的遺伝子分析」Hum Genet 1997 Aug; 100(2): 224-9）。
【００５０】
潰瘍性大腸炎（Gloria Lら、「長期潰瘍性大腸炎患者の直腸粘膜においてＤＮＡの低メチル化および増殖活性が増加する」Cancer 1996 Dec1;
78(11): 2300-6）。
【００５１】
脆弱性Ｘ症候群（Hornstra JKら、「脆弱性Ｘ症候におけるＦＭＲ１遺伝子トリヌクレオチド反復領域の高解像メチル化分析」Hum Mol Genet
1993 Oct; 2(10): 1659-65）。
【００５２】
ハンチントン疾患（Ferluga Jら、「ハンチントン疾患および結腸直腸癌における臓器および年齢に関連する可能な後生的遺伝因子」Med Hypotheses
1989 May; 29(1): 51-4）。
【００５３】
以上の全文献を、引用により本明細書に取り込む。
【００５４】
以上に見るごとく、遺伝子発現の分析技術は進歩したにも拘わらず、潜在的な疾患的または医学的条件をスクリーニングしおよび／または診断することは未だ骨の折れる時間消費の仕事である。何故なら、信頼可能なデータを得るには、発現の異なる巨大な数の遺伝子を並行して分析しなければならないからである。
【００５５】
これは、分析を信頼性がない、時間を消費する、経費がかさむ、自動化不能なものにしており、そして単一遺伝子の分析に制限している。これらの課題を指向し、統計的な品質を維持した結果を得るために投ずる努力を大きく軽減するような方法は現在まで存在しない。
【発明の開示】
【発明が解決しようとする課題】
【００５６】
以上から、本発明の目的は、信頼可能な細胞発現分析を行う努力を能率化できる方法の提供である。そのような分析を使用すれば、特に個人別の医学的処置において、時間消費はより少なく、診断および治療目的は効果的になされるようになる。
【００５７】
本発明の更なる目的は、本発明方法を使用して得られ、疾患的および／または医学的条件の処置に使用される遺伝子パネルの提供である。
【００５８】
本発明の更なる目的は、発明に係るいずれかの方法を実行するためのシステム、方法およびコンピュータプログラム製品の提供である。
【００５９】
本発明の更なる目的は、本発明の遺伝子パネルに基づく、疾患的および／または医学的条件の処置の提供である。
【００６０】
以上の目的は、本発明に従い提供される以下の方法により解決される。即ち、診断および／または治療のための遺伝子パネルの開発方法であって、
a）mＲＮＡおよび／またはタンパク質を含有する少なくとも２グループの生体材料の各々から少なくとも１の生体試料を単離するステップ；
b）生体試料の少なくとも１における少なくとも１の遺伝子の発現レベルを分析するステップ；
c）該少なくとも２グループの生体材料の間で異なる発現レベルを呈する遺伝子を選択し、これにより第一の知識ベースを作成するステップ；
d）ステップａ）の少なくとも１の生体試料の少なくとも１の遺伝子のメチル化関連領域におけるシトシンのメチル化レベルを分析するステップ、ここで遺伝子は第一の知識ベースに基づいて選択される；
e）該少なくとも２グループの生体材料の間で異なるシトシンメチル化レベルを呈する遺伝子を選択し、これにより第二知識ベースを作成するステップ；および
f）第二知識ベースから選択した遺伝子を遺伝子パネルに追加するステップ；
を含む方法。
【００６１】
すなわち、本発明は、既知の発現分析技術の利点のみを組み合わせた遺伝子パネルを作成する方法を提供しており、これは巨大な数の疾患的および／または医学的条件の迅速で信頼可能な診断および／または治療のための有力な道具となる。
【００６２】
Celisら（「遺伝子発現プロファイリング：ＤＮＡマイクロアレイおよびプロテオミクスを使用する転写および翻訳生産物のモニタリング」FEBS Lett
2000 Aug 25; 480(1): 2-16）は、ＤＮＡミクロアレイおよびプロテオミクス等の各種技法を組み合わせることにより、多数の遺伝子の発現レベルの分析が健常および疾患の両方の場合に対し同時に行うことが可能になる理論的なアプローチを記述している。これらの技法が組み合わさると、生物学が変革され、特に分子医学の領域では疾患の進行に伴う遺伝子制御事象の解明ならびに薬物運搬および診断のための潜在的標的のピンポイント化が期待されると言われている。Celisらはこれら技法の現状を概観し、これらを組み合わせて生検標本の分析に適用したいくつかの研究に光を当てている。しかしながら、Celisらは、プロテオミクスによる発現研究およびメチル化分析で得られたデータを組み合わせて、更なる治療または診断目的の遺伝子パネルを提供することを記述または提案していない。
【００６３】
従属請求項の特徴を読めば、本発明の他の好ましい実施形態は当業者には明瞭となる。
【００６４】
本発明方法の一つの実施形態では、生体試料は、生検、個体への手術、切除により単離され、生体保存試料由来であり、体液から採取されおよび／または周辺から直接採取される。
【００６５】
本発明方法の他の実施形態では、生体試料は、真核および／または原核の細胞株、生検試料、血液、唾、糞、尿、髄液、パラフィン固定組織、目、腸、脳、心臓、前立腺、腎、肺、乳房または肝からの組織、またはこれらの組み合わせである。
【００６６】
本発明の好ましい方法は、少なくとも１の生体試料が、健常のおよび／または疾患中の個体の生体材料から誘導されることを特徴とする。そのような疾患には細胞における遺伝子発現の変化に関連する全ての疾患および／または医学的条件が包括され、例えば、薬剤の望ましからざる副作用、癌、転移、中枢神経系（ＣＮＳ）の機能不全、障害または疾患、攻撃的症状または行動上の疾患、脳障害、精神障害および人格障害の臨床的、心理的および社会的結果、痴呆および／または随伴症候、心臓循環系の疾患、機能不全または障害、消化管系の疾患、機能不全または障害、呼吸器系の疾患、機能不全または障害、外傷、炎症、感染、免疫および／または回復、発達過程における変異の結果としての疾患、機能不全または障害、皮膚、筋肉、結合組織または骨の疾患、機能不全または障害、内分泌系または代謝系の疾患、機能不全または障害、頭痛、および性的機能不全、または以上の組み合わせ、白血病、頭頚部癌、ホジキンス疾患、胃癌、前立腺癌、腎臓癌、膀胱癌、乳癌、バーキットリンパ腫、ウィムス腫瘍、プレーダー−ウィリー／アンゲルマン症候、ＩＣＦ症候、皮膚繊維腫、高血圧、小児の中枢神経生物学上の疾患、自閉症、潰瘍性大腸炎、脆弱性Ｘ症候群、およびハンチントン疾患、が挙げられる。
【００６７】
本発明の好ましい方法は、前記生体試料の単離が、細胞以下の成分、細胞小器官、高分子構造物および多タンパク質複合体の単離、ｍＲＮＡの部分的または完全な調製、材料の逆転写またはプロテアーゼ、ＲＮＡアーゼおよび／またはＤＮＡアーゼから選択した酵素での部分分解、または以上の組み合わせを含むことを特徴とする。そのような単離および予備選択により、発明に係る方法に出現する遺伝子の量と複合を最初にもっともっと制限することができる。
【００６８】
本発明の更に好ましい方法では、生物学的試料中の少なくとも１の遺伝子の発現レベル分析が前記少なくとも１の遺伝子由来のｍＲＮＡまたはタンパク質の相対量を決定することを含む。一般に、メチル化分析を除く遺伝子発現レベル分析のための今日既知の方法は全て本発明方法の第一段階で使用できる。分析は、一次元または二次元ゲル電気泳動、ディファレンシャルディスプレイ、腫瘍マーカーの選択セットの分析、差引きハイブリッド形成法、質量分析法、比較発現配列タグシーケンシング、発現差解析（representational
difference analysis）、ｃＤＮＡまたはオリゴヌクレオチドアレイ、遺伝子発現の連続分析、酵素、蛍光、放射能、染料および／または抗体標識化の一以上を含むことが好ましい。本発明分析は、一次元または二次元ゲル電気泳動中の発現強度の測定、ディファレンシャルディスプレイ、減法的ハイブリダイゼーション、ＤＮＡ、ＲＮＡまたはタンパク質のシーケンシング、質量分析法、および酵素、放射能、染料および／または抗体標識化を含むことが更に好ましい。
【００６９】
本発明方法の他の実施形態では、分析は、少なくともその一部がロボットまたはコンピュータ装置等の適切な自動機器を使用して自動的に行われる。そのような装置には発現を分析するのに必要なソフトウエアが搭載され、インターネットまたはイントラネットに接続し、ニューロネットワーク等の部分となることができる。分析に必要なデータ／情報はシステム上に直接存在してもあるいは遠隔ソースに存在してもよく、装置がそれに直接にまたは間接に、例えばインターネットを介して接続される。
【００７０】
本発明の好ましい方法では、少なくとも二つの遺伝子の発現レベルを並行して分析する。更に好ましくは、少なくとも１００の遺伝子を並行して分析する。
【００７１】
本発明方法の他の好ましい実施形態では、選択が、ｍＤＮＡレベルとタンパク質発現を組み合わせて分析することに基づく。本発明方法の他の実施例では、選択が、少なくとも二つの個別の分析列の結果に基づく。これにより、選択に使用するデータの内部管理が提供され、結果の正確さが増大する。また更には、ほんの僅かな分析費用の増加で、選択遺伝子の発現値における統計的な誤差が減少する。
【００７２】
他の好ましい本発明方法では、知識ベースが唯１組の選択部位から構成されるように選択を行う。すなわち、知識ベースが「オン」と「オフ」型のデータのみを含むこととなり、発現または非発現遺伝子間の極めて単純な決定が可能である。本発明方法の更に別の実施形態では、第一知識ベースが選択遺伝子の異なるサブセットを含むように選択を行う。そのクラスは「質クラス」と言うことができ、これによって遺伝子パネルについて更に差別化した選択が可能となる。本明細書で使用している「質クラス」の語は、異なる発現レベルのグループ化を可能な限り異なる全てについて行うことを含んでいる。そのようなグループには、例えば発現分析に対する選択部位の重要性の相違、選択遺伝子の分析データの統計的な正確さおよび／または質、が挙げられる。
【００７３】
本発明の好ましい方法では、選択は、少なくともその一部はコンピュータ装置等の適切な自動機器により自動的に行われる。そのような装置には発現を分析するのに必要なソフトウエアが搭載され、インターネットまたはイントラネットに接続し、ニューロネットワーク等の部分となることができる。分析に必要なデータ／情報はシステム上に直接存在してもあるいは遠隔ソースに存在してもよく、装置がそれに直接にまたは間接に、例えばインターネットを介して接続される。
【００７４】
本発明の好ましい方法では、少なくとも２個の遺伝子を並行して選択する。更に好ましくは、少なくとも１００個の部位を並行して選択する。
【００７５】
本発明によれば、分析対象遺伝子の完全遺伝子および／またはプロモーター、イントロン、第一エクソンおよび／またはエンハンサーを含むメチル化関連領域を分析することは更に好ましい。或る遺伝子の発現に関係するメチル化部位を分析すれば、たとえその部位がその遺伝子自体の配列の中に位置していなくても、その部位がその遺伝子の発現にどのような効果を持つかは当業者であれば容易に推定することができる。
【００７６】
本発明方法の他の実施形態では、シトシンのメチル化レベルの分析が、亜硫酸水素塩、亜硫酸水素または二亜硫酸塩での化学処理、ポリメラーゼ連鎖反応（ＰＣＲ）、ハイブリダイゼーション分析、シーケンシング、質量分析法および蛍光、酵素、放射能、染料および／または抗体標識化を含む。一般に、ＤＮＡの選定部位におけるメチル化状態を分析する方法は全て採用することができる。そのような方法は当業者には公知であり、例えば、Dahlら,「invivoメチル化の分析」
Methods Mol Biol 2000; 130:47-57； Zhou Y ら、「亜硫酸水素塩修飾したＤＮＡにおけるシトシンと5-メチルシトシンを識別するための単一配列末端反応の利用」Biotechniques
1997 May; 22(5): 850-4； Yoder JA ら、「植物および哺乳類におけるゲノムメチル化パターンの遺伝子分析」C Biol Chem
1996 Oct; 377(10): 605-10、等に記載されている。
【００７７】
本発明の好ましい方法では、分析は、少なくともその一部が適切な自動機器、例えばロボットを使用して自動的に行われる。そのような装置には発現を分析するのに必要なソフトウエアが搭載され、インターネットまたはイントラネットに接続し、ニューロネットワーク等の部分となることができる。分析に必要なデータ／情報はシステム上に直接存在してもあるいは遠隔ソースに存在してもよく、装置がそれに直接にまたは間接に、例えばインターネットを介して接続する。
【００７８】
本発明の他の好ましい方法は、ＤＮＡのメチル化可能な全ての部位を分析することを特徴とする。通常そのような部位には、与えられたＤＮＡ上のいわゆる「ＣｐＧ」島が含まれており、当業者はこれを容易に検知することができる。少なくとも２個の遺伝子のシトシンメチル化レベルを並行して分析するのが好ましい。少なくとも１００個のシトシンメチル化部位のレベルを並行して分析するのが好ましい。多数の部位を並行して分析すると、この方法によるスクリーニングが効果的になると共に統計的に高い相関結果が得られる。
【００７９】
更に好ましい本発明方法は、選択が、少なくとも二つの個別の分析列の結果に基づくことを特徴とする。これにより、分析費用のほんの僅かな増加で、選択部位のメチル化感度値における統計的な誤差が減少する。他の好ましい本発明方法では、第二知識ベースが唯１組の選択遺伝子含むように選択を行う。すなわち、知識ベースが「オン」と「オフ」型のデータのみを含むこととなり、異なるメチル化状態間の極めて単純な決定が可能である。
【００８０】
本発明方法の更に別の実施形態では、第二知識ベースが選択遺伝子の異なるサブセットを含むように選択を行う。そのクラスは「質クラス」と言うことができ、これによって更に差別化された分析が可能となる。
【００８１】
本発明の好ましい方法では、選択は、少なくともその一部が、コンピュータ装置等の適切な自動機器を使用して自動的に行われる。そのような装置にはメチル化部位を分析するのに必要なソフトウエアが搭載され、インターネットまたはイントラネットに接続し、ニューロネットワーク等の部分となることができる。分析に必要なデータ／情報はシステム上に直接存在してもあるいは遠隔ソースに存在してもよく、装置がそれに直接にまたは間接に、例えばインターネットを介して接続される。
【００８２】
本発明の好ましい方法では、少なくとも２個の遺伝子を並行して選択する。更に好ましくは、少なくとも１００個の遺伝子を並行して選択する。
【００８３】
本発明方法の他の実施形態は、第二知識ベースの遺伝子の全部または一部が遺伝子パネルに追加されることを特徴とする。
【００８４】
本発明の他の実施形態では、選択遺伝子のメチル化関連領域に関する追加情報が遺伝子パネルに追加される。この追加情報には個人別患者データ、疾患特異的データ、前処置データおよび／またはメチル化特異的追加データが含まれる。
【００８５】
本発明方法の他の実施形態は、ａ）からｆ）のステップを繰り返すことを特徴とする。本発明方法の反復はいくつかの異なる目的を満足する。第一に、前記したごとく得られたデータの統計的な品質が高まる。第二に、問題とする組織等の生物学的試料が正確に採取され共通点があるかどうかの内部制御が可能である。本発明の反復「サイクル」数は個々の事例、例えば分析対象試料の品質等に応じて変動可能である。一例として本発明方法を少なくとも５ないし５０回反復することは可能である。好ましくは、このような本発明方法は、その方法が、少なくともその一部はロボットおよび／またはコンピュータシステム等の適切な自動機器によって自動的に行われることを特徴とする。本発明方法は好都合なことに自動化および／またはコンピュータ化することができ、それぞれの装置とプログラムを、当業者は容易に知ることができる。
【００８６】
本発明方法の他の態様では、同一の生体試料、異なる生体試料またはこれらの組み合わせをステップａ）で使用する。更に本発明方法の他の態様では、複数のステップが、ａ）、ｄ）、ｅ）、ｂ）、ｃ）およびｆ）の順序で行われる。これは、本発明方法における異なるステップの順序を単純に入れ替えており、それでも結果は同様または同一になる。本発明によれば、本方法を、少なくともその一部をロボット等の適切な自動機器によって行うことができる。
【００８７】
本発明の他の態様は、本発明方法で得られる遺伝子パネルに関する。この遺伝子パネルは各種疾患、例えば、薬剤の望ましからざる副作用、癌、中枢神経系（ＣＮＳ）の機能不全、障害または疾患、攻撃的症状または行動上の疾患、脳障害、精神障害および人格障害の臨床的、心理的および社会的結果、痴呆および／または随伴症候、心臓循環系の疾患、機能不全または障害、消化管系の疾患、機能不全または障害、呼吸器系の疾患、機能不全または障害、外傷、炎症、感染、免疫および／または回復、発達過程における変異の結果としての疾患、機能不全または障害、皮膚、筋肉、結合組織または骨の疾患、機能不全または障害、内分泌系または代謝系の疾患、機能不全または障害、頭痛、および性的機能不全、または以上の組み合わせ、白血病、頭頚部癌、ホジキンス疾患、胃癌、前立腺癌、腎臓癌、膀胱癌、乳癌、バーキットリンパ腫、ウィルムス腫瘍、プレーダー−ウィリー／アンゲルマン症候、ＩＣＦ症候、皮膚繊維腫、高血圧、小児の中枢神経生物学上の疾患、自閉症、潰瘍性大腸炎、脆弱性Ｘ症候群、およびハンチントン疾患、の診断および／または治療に使用することができる。
【００８８】
選択遺伝子のメチル化関連領域、例えば完全遺伝子および／またはプロモーター、イントロン、第一エクソンおよび／またはエンハンサーの領域に関する追加情報データを含む本発明遺伝子パネルは更に好ましい。本発明によれば、遺伝子パネルは、コンピュータディスク、ＲＡＭ，ＲＯＭあるいは印刷された表またはリスト上に知識ベースの形態で存在することができる。
【００８９】
本発明によれば、「遺伝子パネル」は、知識ベースをリストする表あるいは他の情報源を表示し、それには本明細書で「候補遺伝子」とも称している選択遺伝子に関する情報が含まれている。本発明による「遺伝子パネル」の語は、候補遺伝子の名称または表示に関する情報を単に包含するものと理解すべきではない。このパネルには更に候補遺伝子についての追加情報、例えば、配列データ、遺伝子の起源(遺伝形質)情報、種の情報、および候補遺伝子の発現に影響する遺伝子的要素および／または因子に関する情報が含まれる。その要素とは候補遺伝子の完全遺伝子および／またはプロモーター、イントロン、第一エクソンおよび／またはエンハンサーであり得る。因子とは候補遺伝子が由来する生物学的材料の成長条件や発達段階、あるいは他の医学データであり得る。
【００９０】
本発明の他の態様において、遺伝子パネルは疾患の診断に使用することができる。その疾患には、例えば、薬剤の望ましからざる副作用、癌、中枢神経系（ＣＮＳ）の機能不全、障害または疾患、攻撃的症状または行動上の疾患、脳障害、精神障害および人格障害の臨床的、心理的および社会的結果、痴呆および／または随伴症候、心臓循環系の疾患、機能不全または障害、消化管系の疾患、機能不全または障害、呼吸器系の疾患、機能不全または障害、外傷、炎症、感染、免疫および／または回復、発達過程における変異の結果としての疾患、機能不全または障害、皮膚、筋肉、結合組織または骨の疾患、機能不全または障害、内分泌系または代謝系の疾患、機能不全または障害、頭痛、および性的機能不全、または以上の組み合わせが挙げられる。特に好ましいのは、遺伝子が白血病、頭頚部癌、ホジキンス疾患、胃癌、前立腺癌、腎臓癌、膀胱癌、乳癌、バーキットリンパ腫、ウィルムス腫瘍、プレーダー−ウィリー／アンゲルマン症候、ＩＣＦ症候、皮膚繊維腫、高血圧、小児の中枢神経生物学上の疾患、自閉症、潰瘍性大腸炎、脆弱性Ｘ症候群、およびハンチントン疾患に関連することを特徴とする、本発明方法の使用である。
【００９１】
本発明の他の態様は、本発明遺伝子パネルを作成する装置に関し、それには本発明による第一および第二の知識ベースを作成する手段および第二知識ベースから選択した遺伝子を遺伝子パネルに追加する手段が含まれる。
【００９２】
本発明の他の態様は疾患の診断方法に関し、その方法には次の、ａ）本発明遺伝子パネルを提供するステップ；ｂ)既知の疾患的または医学的条件を持つ少なくとも１の疾患個体および／または少なくとも１の健常個体の生物学的材料における前記遺伝子パネルに基づくＤＮＡの選択部位でのシトシンメチル化レベルを分析し、それによって第一知識ベースを作成するステップ；ｃ）未知の疾患的または医学的条件を持つ少なくとも１の疾患個体の生物学的材料における前記遺伝子パネルに基づくＤＮＡの選択部位でのシトシンメチル化レベルを分析し、それによって第二知識ベースを作成するステップ；ｄ)第一および第二知識ベースを比較するための複数のエキスパートルールを含む第三知識ベースを提供するステップ；およびｅ）前記第一から第三知識ベースに基づいて、未知の疾患的または医学的条件を持つ少なくとも１の疾患個体に対する疾患的または医学的条件の型を選択するステップ、が含まれる。
【００９３】
好ましい疾患診断方法は、分析対象遺伝子の選択部位がプロモーター、イントロン、第一エクソンおよび／またはエンハンサーまたはこれらの組み合わせに位置することを特徴とする。本発明方法は、亜硫酸水素塩、亜硫酸水素または二亜硫酸塩での化学処理、ポリメラーゼ連鎖反応（ＰＣＲ）、ハイブリダイゼーション分析、シーケンシング、質量分析法および蛍光、酵素、放射能、染料および／または抗体標識化を含むシトシンのメチル化レベルの分析を更に含むことができる。好ましくは、本発明方法は、分析が少なくともその一部はロボット等の適切な自動機器によって行われることを特徴とする。
【００９４】
更に、本発明方法の他の実施形態では、ステップｅ）を行う前にステップｂ）からｄ）を繰り返す。好ましくは、同一の生物学的試料、異なる生物学的試料またはこれらの組み合わせをステップｃ）で使用する。
【００９５】
好ましい実施形態では、本発明方法が、少なくともその一部はロボット等の適切な自動機器によって行われる。
【００９６】
本発明の他の態様で、本発明方法の一実施形態は、薬剤の望ましからざる副作用、癌、中枢神経系（ＣＮＳ）の機能不全、障害または疾患、攻撃的症状または行動上の疾患、脳障害、精神障害および人格障害の臨床的、心理的および社会的結果、痴呆および／または随伴症候、心臓循環系の疾患、機能不全または障害、消化管系の疾患、機能不全または障害、呼吸器系の疾患、機能不全または障害、外傷、炎症、感染、免疫および／または回復、発達過程における変異の結果としての疾患、機能不全または障害、皮膚、筋肉、結合組織または骨の疾患、機能不全または障害、内分泌系または代謝系の疾患、機能不全または障害、頭痛、および性的機能不全、または以上の組み合わせの診断のために使用される。特に好ましくは、白血病、頭頚部癌、ホジキンス疾患、胃癌、前立腺癌、腎臓癌、膀胱癌、乳癌、バーキットリンパ腫、ウィルムス腫瘍、プレーダー−ウィリー／アンゲルマン症候、ＩＣＦ症候、皮膚繊維腫、高血圧、小児の中枢神経生物学上の疾患、自閉症、潰瘍性大腸炎、脆弱性Ｘ症候群、およびハンチントン疾患の診断のための使用である。
【００９７】
更なる態様において、本発明は、疾患的および／または医学的条件を処置する方法であって、ａ）上記方法による少なくとも１の診断を提供するステップ；およびｂ）前記少なくとも１の診断された疾患的および／または医学的条件に適する特定の処置を設定するステップ、を含む方法を提供する。好ましくは、前記特定の処置が疾患特異的および／または個人別的である。一実施形態でこの方法は、薬剤の望ましからざる副作用、癌、中枢神経系（ＣＮＳ）の機能不全、障害または疾患、攻撃的症状または行動上の疾患、脳障害、精神障害および人格障害の臨床的、心理的および社会的結果、痴呆および／または随伴症候、心臓循環系の疾患、機能不全または障害、消化管系の疾患、機能不全または障害、呼吸器系の疾患、機能不全または障害、外傷、炎症、感染、免疫および／または回復、発達過程における変異の結果としての疾患、機能不全または障害、皮膚、筋肉、結合組織または骨の疾患、機能不全または障害、内分泌系または代謝系の疾患、機能不全または障害、頭痛、および性的機能不全、または以上の組み合わせの治療のために使用される。最も好ましくは、白血病、頭頚部癌、ホジキンス疾患、胃癌、前立腺癌、腎臓癌、膀胱癌、乳癌、バーキットリンパ腫、ウィルムス腫瘍、プレーダー−ウィリー／アンゲルマン症候、ＩＣＦ症候、皮膚繊維腫、高血圧、小児の中枢神経生物学上の疾患、自閉症、潰瘍性大腸炎、脆弱性Ｘ症候群、およびハンチントン疾患の治療のための使用である。
【００９８】
ここで本発明を添付の遺伝子リストおよび図面を引用して以下の実施例によって更に詳細に説明するが、これらは本発明思想の範囲を限定するものではない。
【００９９】
添付の配列リストは遺伝子のパネルを示しており、その遺伝子のメチル化状態はリストの各サブグループに表示する細胞状態に応じて変化する。
【実施例１】
【０１００】
プロテオミクスおよび後続するメチル化スクリーニングの合体
【０１０１】
本実施例では、一組のタンパク質の発現レベルを分析するために、プロテオミクス由来のステップを使用した。最初に、前立腺癌の細胞株および健常前立腺由来細胞にSypro
Ruby色素での染色を用いて、標準プロトコールによる２Ｄゲル電気泳動を行った（上記参照）。次に、得られたゲルをＣＣＤカメラを使用して走査し、走査した画像をコンピュータベースの分析ソフトウェア、例えば「Imagemaster」(Amersham-Pharmacia)または「Z3」（Compugen）を使用して分析した。
【０１０２】
両分析パターンで発現の異なるタンパク質をロボット（Flexys robot,ゲノム解析）により切り取り、トリプシン分解した。タンパク質はMALDI-TOF質量分析法により分析した。得られた画分はペプチドマッピングを経由して分析し、タンパク質のデータベース（その一つ）と対比した。最後に、発現の異なるタンパク質をリスト化し表示した。このリストは発現の異なるいくつかのタンパク質を含んだ。
【０１０３】
第一段階で得られたリストに基づいて、メチル化分析を前記方法により行った。分析の結果、いくつかのタンパク質のメチル化状態は非前立腺癌細胞株と対比すると有意に異なることが明らかとなった。
【産業上の利用可能性】
【０１０４】
纏めると、これらの選択遺伝子は、最小のセットながら最大の信頼性のある結果が得られる前立腺癌マーカーとして、診断および／または治療に更に使用することができる。
【０１０５】
遺伝子パネルのリスト
【０１０６】
血管形成
ADM (Adrenomedullin); ANG (Angiogenin, ribonuclease, RNase A family,
5); ANGPT1 (Angiopoietin 1); ANGPT2 (Angiopoietin 2); ANGPT3 (Angiopoietin 3);
ANGPT4 (Angiopoietin 4); ANPEP (Alanyl (membrane) aminopeptidase
(aminopeptidase N, aminopeptidase M, microsomal aminopeptidase, CD13, p150));
ARNT (Aryl hydrocarbon receptor nuclear translocator); BDK (Bradykinin); BDKRB2
(Bradykinin receptor B2); BTN (Butyrophilin); CD14 (CD14 antigen); CD19 (CD19
antigen); CD1D (CD1D antigen, d polypeptide); CD2 (CD2 antigen (p50), sheep red
blood cell receptor); CD20 (CD20 antigen); CD22 (CD22 antigen); CD33 (CD33
antigen (gp67); CD34 (CD34 antigen); CD37 (CD37 antigen); CD38 (CD38 antigen
(p45)); CD39 (CD39 antigen); CD4 (CD4 antigen (p55)); CD47 (CD47 antigen
(Rh-related antigen, integrin-associated signal transducer); CD48 (CD48 antigen
(B-cell membrane protein); CD53 (CD53 antigen); CD59 (CD59 antigen p18-20
(antigen identified by monoclonal antibodies 16.3A5, EJ16, EJ30, EL32 and
G344); CD63 (CD63 antigen (melanoma 1 antigen); CD68 (CD68 antigen); CD7 (CD7
antigen (p41)); CD72 (CD72 antigen); CD8A (CD8 antigen, alpha polypeptide
(p32)); CD9 (CD9 antigen (p24)); CD97 (CD97 antigen); CDW52 (CDW52 antigen
(CAMPATH-1 antigen)); COL4A2 (Collagen, type IV, alpha 2); COL4A4 (Collagen,
type IV, alpha 4); DAF (Decay accelerating factor for complement (CD55, Cromer
blood group system)); DPP4 (Dipeptidylpeptidase IV (CD26, adenosine deaminase
complexing protein 2)); EGF (Epidermal growth factor); EGFR (Epidermal growth
factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene
homolog)); EMAPII (Endothelial monocyte-activating polypeptide); EMAPL
(Echinoderm microtubule-associated protein-like); ENG (Endoglin
(Osler-Rendu-Weber syndrome 1)); F3 ( (Coagulation factor III (thromboplastin,
tissue factor)); F8C (Coagulation factor VIIIc, procoagulant component
(hemophilia A)); FAP (Fibroblast activation protein, alpha); FGF1 (Fibroblast
growth factor 1 (acidic)); FGF2 (Fibroblast growth factor 2 (basic)); FGFR1
(Fibroblast growth factor receptor 1 (fms-related tyrosine kinase 2, Pfeiffer
syndrome)); FGFR2 (Fibroblast growth factor receptor 2 (bacteria-expressed
kinase, keratinocyte growth factor receptor, craniofacial dysostosis 1, Crouzon
syndrome, Pfeiffer syndrome, Jackson-Weiss syndrome)); FIGF (C-fos induced
growth factor (vascular endothelial growth factor D)); FLT1 (Fms-related
tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability
factor receptor)); FLT4 (Fms-related tyrosine kinase 4); FN1 (Fibronectin 1);
GRB2 (Growth factor receptor-bound protein 2); HGF (Hepatocyte growth factor
(hepapoietin A; scatter factor)); HIF1A (Hypoxia-inducible factor 1, alpha
subunit (basic helix-loop-helix transcription factor)); IGF1 (Insulin-like
growth factor 1 (somatomedin C)); IGF2 (Insulin-like growth factor 2
(somatomedin A)); ITGBL1 (Integrin, beta-like 1 (with EGF-like repeat domains));
JAG1 (Jagged1 (Alagille syndrome)); JAG2 (Jagged 2); KAI1 (Kangai 1
(suppression of tumorigenicity 6, prostate); CD82 antigen (R2 leukocyte
antigen, antigen detected by monoclonal and antibody IA4)); KDR (Kinase insert
domain receptor (a type III receptor tyrosine kinase)); LAG3
(Lymphocyte-activation gene 3); LAMA1 (Laminin, alpha 1); LAMA2 (Laminin, alpha
2 (merosin, congenital muscular dystrophy)); LAMA4 (Laminin, alpha 4); LAMA5
(Laminin, alpha 5); LY64 (Lymphocyte antigen 64 (mouse) homolog, radioprotective,
105kD); LYZ (Lysozyme (renal amyloidosis)); MDU1 (Antigen identified by
monoclonal antibodies 4F2, TRA1.10, TROP4, and T43); MET (Met proto-oncogene
(hepatocyte growth factor receptor)); MIC2 (Antigen identified by monoclonal
antibodies 12E7, F21 and O13); MICA (MHC class I polypeptide-related sequence
A); MME (Membrane metallo-endopeptidase (neutral endopeptidase, enkephalinase,
CALLA, CD10)); MMP1 (Matrix metalloproteinase 1 (interstitial collagenase));
MMP10 (Matrix metalloproteinase 10 (stromelysin 2)); MMP2 (Matrix
metalloproteinase 2 (gelatinase A, 72kD gelatinase, 72kD type IV collagenase));
MMP9 (Matrix metalloproteinase 9 (gelatinase B, 92kD gelatinase, 92kD type IV
collagenase)); NEO1 (Neogenin (chicken) homolog 1); NOS2A (Nitric oxide
synthase 2A (inducible, hepatocytes)); NOS3 (Nitric oxide synthase 3
(endothelial cell)); NRP1 (Neuropilin 1); NRP2 (Neuropilin 2); PAI1
(Plasminogen activator inhibitor, type I); PAI2 (Plasminogen activator
inhibitor, type II (arginine-serpin)); PDNP1 (Phosphodiesterase I/nucleotide
pyrophosphatase 1 (homologous to mouse Ly-41 antigen)); PF4 (Platelet factor
4); PF4V1 (Platelet factor 4 variant 1); PLAU (Plasminogen activator,
urokinase); PLAUR (Plasminogen activator, urokinase receptor); PLG (Plasminogen);
PRKCA (Protein kinase C, alpha); PRKCB1 (Protein kinase C, beta 1); PRKM1
(Protein kinase, mitogen-activated 1 (MAP kinase 1; p40, p41)); PRKM10 (Protein
kinase mitogen-activated 10 (MAP kinase)); PRKM3 (Protein kinase,
mitogen-activated 3 (MAP kinase 3; p44)); PTAFR (Platelet-activating factor
receptor); PTCH (Patched (Drosophila) homolog); PTK2 (PTK2 protein tyrosine
kinase 2); PTK2B (Protein tyrosine kinase 2 beta); RHO (Rhodopsin (retinitis
pigmentosa 4, autosomal dominant)); RTN1 (Reticulon 1); SDC1 (Syndecan 1); SDC2
(Syndecan 2 (heparan sulfate proteoglycan 1, cell surface-associated,
fibroglycan)); SDC4 (Syndecan 4 (amphiglycan, ryudocan)); SELPLG (Selectin P
ligand); SIAT1 (Sialyltransferase 1 (beta-galactoside
alpha-2,6-sialytransferase)); SLAM (Signaling lymphocytic activation molecule);
SOS1 (Son of sevenless (Drosophila) homolog 1); SST (Somatostatin); SSTR1
(Somatostatin receptor 1); SSTR2 (Somatostatin receptor 2); SSTR3 (Somatostatin
receptor 3); SSTR4 (Somatostatin receptor 4); SSTR5 (Somatostatin receptor 5);
ST2 (Suppression of tumorigenicity 2); STAT1 (Signal transducer and activator
of transcription 1, 91kD); TEK (TEK tyrosine kinase, endothelial); TFPI (Tissue
factor pathway inhibitor (lipoprotein-associated coagulation inhibitor)); TGFB1
(Transforming growth factor, beta 1); TGFB1 (Transforming growth factor, beta
1); TGFB1 (Transforming growth factor, beta 1); TGFBR1 (Transforming growth
factor, beta receptor I (activin A receptor type II-like kinase, 53kD)); TGFBR1
(Transforming growth factor, beta receptor I (activin A receptor type II-like
kinase, 53kD)); TGFBR1 (Transforming growth factor, beta receptor I (activin A
receptor type II-like kinase, 53kD)); TGFBR2 (Transforming growth factor, beta
receptor II (70-80kD)); THBS1 (Thrombospondin 1); THBS1 (Thrombospondin 1);
THBS2 (Thrombospondin 2); THBS4 (Thrombospondin 4); TIE (Tyrosine kinase with
immunoglobulin and epidermal growth factor homology domains); TIEG (TGFB
inducible early growth response); TIEG2 (TGFB inducible early growth response
2); TIMP1 (Tissue inhibitor of metalloproteinase 1 (erythroid potentiating
activity, collagenase inhibitor) ); TIMP2 (Tissue inhibitor of
metalloproteinase 2); TM4SF2 (Transmembrane 4 superfamily member 2); TM4SF3
(Transmembrane 4 superfamily member 3); TNF (Tumor necrosis factor (TNF
superfamily, member 2)); TNFRSF1A (Tumor necrosis factor receptor superfamily,
member 1A (); TNFSF12 (Tumor necrosis factor (ligand) superfamily, member 12);
TNFSF4 (Tumor necrosis factor (ligand) superfamily, member 4
(tax-transcriptionally activated glycoprotein 1, 34kD)); TNFSF5 (Tumor necrosis
factor (ligand) superfamily, member 5); TNFSF7 (Tumor necrosis factor (ligand)
superfamily, member 7); VCAM1 (Vascular cell adhesion molecule 1); VEGF
(Vascular endothelial growth factor); VEGFB (Vascular endothelial growth factor
B); VEGFC (Vascular endothelial growth factor C); VTN (Vitronectin (serum
spreading factor, somatomedin B, complement S-protein)); and VWF (Von
Willebrand factor).
【０１０７】
アポトーシス
APAF1 (Apoptotic protease activating factor); API1 (Apoptosis
inhibitor 1); API2 (Apoptosis inhibitor 2); API3 (Apoptosis inhibitor 3); API4
(Apoptosis inhibitor 4 (survivin)); BAD (BCL2-antagonist of cell death); BAD
(BCL2-antagonist of cell death); BAG4 (BCL2-associated athanogene 4); BAK1
(BCL2-antagonist/killer 1); BAX (BCL2-associated X protein); BCL10 (B-cell
CLL/lymphoma 10); BCL2 (B-cell CLL/lymphoma 2); BCL2A1 (BCL2-related protein
A1); BCL2L1 (BCL2-like 1); BCL2L2 (BCL2-like 2); BNIP1 (BCL2/adenovirus E1B
19kD-interacting protein 1); BNIP2 (BCL2/adenovirus E1B 19kD-interacting
protein 2); BNIP3 (BCL2/adenovirus E1B 19kD-interacting protein 3); CASP1
(Caspase 1, apoptosis-related cysteine protease (interleukin 1, beta,
convertase) ); CASP10 (Caspase 10, apoptosis-related cysteine protease); CASP2
(Caspase 2, apoptosis-related cysteine protease (neural precursor cell
expressed, developmentally down-regulated 2)); CASP3 (Caspase 3,
apoptosis-related cysteine protease); CASP4 (Caspase 4, apoptosis-related
cysteine protease); CASP5 (Caspase 5, apoptosis-related cysteine protease);
CASP6 (Caspase 6, apoptosis-related cysteine protease); CASP7 (Caspase 7,
apoptosis-related cysteine protease); CASP8 (Caspase 8, apoptosis-related
cysteine protease); CASP9 (Caspase 9, apoptosis-related cysteine protease); DAP
(Death-associated protein); DAP3 (Death associated protein 3); DAPK3
(Death-associated protein kinase 3); DAXX (Death-associated protein 6); DFFA
(DNA fragmentation factor, 45 kD, alpha subunit); MCL1 (Myeloid cell leukemia
sequence 1 (BCL2-related)); MDM4 (Mouse double minute 4, human homolog of;
p53-binding protein); MYD88 (Myeloid differentiation primary response gene
(88)); NAIP (Neuronal apoptosis inhibitory protein); PAWR (PRKC, apoptosis,
WT1, regulator); PDCD1 (Programmed cell death 1); PDCD2 (Programmed cell death
2); PSEN2 (Presenilin 2 (Alzheimer disease 4)); REQ (Requiem, apoptosis
response zinc finger gene); SFRP5 (Secreted frizzled-related protein 5); STK17A
(Serine/threonine kinase 17a (apoptosis-inducing)); STK17B (Serine/threonine
kinase 17b (apoptosis-inducing)); TNFAIP1 (Tumor necrosis factor, alpha-induced
protein 1 (endothelial)); TNFRSF6 (Tumor necrosis factor receptor superfamily,
member); and TP53BP2 (Tumor protein p53-binding protein).
【０１０８】
行動
ADRA1A (Adrenergic, alpha-1A-, receptor); ADRA1C (Adrenergic,
alpha-1C-, receptor); ADRA2A (Adrenergic, alpha-2A-, receptor); ADRA2B
(Adrenergic, alpha-2B-, receptor); ADRA2C (Adrenergic, alpha-2C-, receptor);
ADRB1 (Adrenergic, beta-1-, receptor); ADRB2 (Adrenergic, beta-2-, receptor,
surface); ADRB3 (Adrenergic, beta-3-, receptor); ADRBK1 (Adrenergic, beta,
receptor kinase 1); ADRBK2 (Adrenergic, beta, receptor kinase 2); COMT
(Catechol-O-methyltransferase); DBH (Dopamine beta-hydroxylase (dopamine
beta-monooxygenase)); DDC (Dopa decarboxylase (aromatic L-amino acid
decarboxylase)); DRD1 (Dopamine receptor D1); DRD2 (Dopamine receptor D2); DRD3
(Dopamine receptor D3); DRD4 (Dopamine receptor D4); DRD5 (Dopamine receptor
D5); MAOA (Monoamine oxidase A); MAOB (Monoamine oxidase B); OPRM1 (Opioid
receptor, mu 1); PNMT (Phenylethanolamine N-methyltransferase); and TH
(Tyrosine hydroxylase)
【０１０９】
細胞周期
ABL2 (V-abl Abelson murine leukemia viral oncogene homolog 2 (arg,
Abelson-related gene)); ACP1 (Acid phosphatase 1, soluble); ACP2 (Acid
phosphatase 2, lysosomal); ACP5 (Acid phosphatase 5, tartrate resistant); ACPP
(Acid phosphatase, prostate); ACVR1B (Activin A receptor, type IB); ADK
(Adenosine kinase); ADRBK1 (Adrenergic, beta, receptor kinase 1); AK1 (Adenylate
kinase 1); AK2 (Adenylate kinase 2); AK3 (Adenylate kinase 3); AKT1 (V-akt
murine thymoma viral oncogene homolog 1); AKT2 (V-akt murine thymoma viral
oncogene homolog 2); ALPI (Alkaline phosphatase, intestinal); ALPL (Alkaline
phosphatase, liver/bone/kidney); ALPP (Alkaline phosphatase, placental (Regan
isozyme)); ARAF1 (V-raf murine sarcoma 3611 viral oncogene homolog 1); BLK (B
lymphoid tyrosine kinase); BMPR2 (Bone morphogenetic protein receptor, type II
(serine/threonine kinase)); BMX (BMX non-receptor tyrosine kinase); BRAF (V-raf
murine sarcoma viral oncogene homolog B1); BTK (Bruton agammaglobulinemia
tyrosine kinase); CAK (Cell adhesion kinase); CALM1 (Calmodulin 1
(phosphorylase kinase, delta)); CAMK4 (Calcium/calmodulin-dependent protein
kinase IV); CBFA2T1 (Core-binding factor, runt domain, alpha subunit 2;
translocated to, 1; cyclin D-related); CBFA2T2 (Core-binding factor, runt
domain, alpha subunit 2; translocated to, 2); CBFA2T3 (Core-binding factor,
runt domain, alpha subunit 2; translocated to, 3); CCNA2 (Cyclin A2); CCNB1
(Cyclin B1); CCND1 (Cyclin D1 (PRAD1: parathyroid adenomatosis 1)); CCND2
(Cyclin D2); CCND3 (Cyclin D3); CCNE1 (Cyclin E1); CCNE2 (Cyclin E2); CCNF
(Cyclin F); CCNH (Cyclin H); CCNK (Cyclin K); CD48 (CD48 antigen (B-cell membrane
protein)); CD69 (CD69 antigen (p60, early T-cell activation antigen)); CDC10
(Cell division cycle 10 (homologous to CDC10 of S. cerevisiae)); CDC18L (CDC18
(cell division cycle 18, S.pombe, homolog)-like); CDC2 (Cell division cycle 2,
G1 to S and G2 to M); CDC25A (Cell division cycle 25A); CDC25A (Cell division
cycle 25A); CDC25C (Cell division cycle 25C); CDC25C (Cell division cycle 25C);
CDC27 (Cell division cycle 27); CDC2L1 (Cell division cycle 2-like 1 (PITSLRE
proteins)); CDC42 (Cell division cycle 42 (GTP-binding protein, 25kD)); CDC7L1
(CDC7 (cell division cycle 7, S. cerevisiae, homolog)-like 1); CDK2
(Cyclin-dependent kinase 2); CDK2 (Cyclin-dependent kinase 2); CDK5
(Cyclin-dependent kinase 5); CDK6 (Cyclin-dependent kinase 6); CDK6 (Cyclin-dependent
kinase 6); CDK7 (Cyclin-dependent kinase 7 (homolog of Xenopus MO15
cdk-activating kinase)); CDK7 (Cyclin-dependent kinase 7 (homolog of Xenopus
MO15 cdk-activating kinase)); CDK8 (Cyclin-dependent kinase 8); CDK8
(Cyclin-dependent kinase 8); CDKN1B (Cyclin-dependent kinase inhibitor 1B (p27,
Kip1)); CDKN1C (Cyclin-dependent kinase inhibitor 1C (p57, Kip2)); CDKN2B
(Cyclin-dependent kinase inhibitor 2B (p15, inhibits CDK4)); CHC1 (Chromosome
condensation 1); CHEK1 (CHK1 (checkpoint, S.pombe) homolog); CHES1 (Checkpoint
suppressor 1); CHUK (Conserved helix-loop-helix ubiquitous kinase); CKS1 (CDC28
protein kinase 1); CKS2 (CDC28 protein kinase 2); CLK2 (CDC-like kinase 2);
CLK3 (CDC-like kinase 3); CNK (Cytokine-inducible kinase); COT (Cot (cancer Osaka
thyroid) oncogene); CSNK1A1 (Casein kinase 1, alpha 1); CSNK1D (Casein kinase
1, delta); CSNK1E (Casein kinase 1, epsilon); CSNK2A2 (Casein kinase 2, alpha
prime polypeptide); CSNK2B (Casein kinase 2, beta polypeptide); DENR
(Density-regulated protein); DGKA (Diacylglycerol kinase, alpha (80kD)); DGKG
(Diacylglycerol kinase, gamma (90kD)); DGKQ (Diacylglycerol kinase, theta
(110kD)); DMPK (Dystrophia myotonica-protein kinase); DUSP3 (Dual specificity
phosphatase 3 (vaccinia virus phosphatase VH1-related)); DUSP4 (Dual
specificity phosphatase 4); DYRK1 (Dual-specificity
tyrosine-(Y)-phosphorylation regulated kinase 1); E2F2 (E2F transcription
factor 2); E2F5 (E2F transcription factor 5, p130-binding); EFNA1 (Ephrin-A1);
EFNA5 (Ephrin-A5); EFNB1 (Ephrin-B1); EFNB2 (Ephrin-B2); EGR1 (Early growth
response 1); EPHA2 (EphA2); EPHA4 (EphA4); EPHA5 (EphA5); EPHA7 (EphA7); EPHB3
(EphB3); EPHB4 (EphB4); EPHB6 (EphB6); ERBB3 (V-erb-b2 avian erythroblastic
leukemia viral oncogene homolog 3); FAP (Fibroblast activation protein, alpha);
FBL (Fibrillarin); FES (Feline sarcoma (Snyder-Theilen) viral (v-fes)/Fujinami
avian sarcoma (PRCII) viral (v-fps) oncogene homolog); FGFR1 (Fibroblast growth
factor receptor 1 (fms-related tyrosine kinase 2, Pfeiffer syndrome)); FGFR2
(Fibroblast growth factor receptor 2 (bacteria-expressed kinase, keratinocyte
growth factor receptor, craniofacial dysostosis 1, Crouzon syndrome, Pfeiffer
syndrome, Jackson-Weiss syndrome)); FGR (Gardner-Rasheed feline sarcoma viral
(v-fgr) oncogene homolog); FLT1 (Fms-related tyrosine kinase 1 (vascular
endothelial growth factor/vascular permeability factor receptor)); FLT3LG
(Fms-related tyrosine kinase 3 ligand); FLT4 (Fms-related tyrosine kinase 4);
FRK (Fyn-related kinase); GAS2 (Growth arrest-specific 2); GLA (Galactosidase,
alpha); GPRK6 (G protein-coupled receptor kinase 6); GSPT1 (G1 to S phase
transition 1); HMR (Hormone receptor (growth factor-inducible nuclear protein
N10)); HUS1 (HUS1 (S. pombe) checkpoint homolog); IFI56 (Interferon-induced protein
56); IGFBP1 (Insulin-like growth factor binding protein 1); ILK
(Integrin-linked kinase); INP10 (Interferon (gamma)-induced cell line; protein
10 from); INPP5D (Inositol polyphosphate-5-phosphatase, 145kD); ISG20
(Interferon stimulated gene (20kD)); JAK1 (Janus kinase 1 (a protein tyrosine
kinase)); JAK3 (Janus kinase 3 (a protein tyrosine kinase, leukocyte)); KDR
(Kinase insert domain receptor (a type III receptor tyrosine kinase)); LCAT
(Lecithin-cholesterol acyltransferase); LIMK1 (LIM domain kinase 1); LIMK2 (LIM
domain kinase 2); LRP1 (Low density lipoprotein-related protein 1
(alpha-2-macroglobulin receptor)); LTK (Leukocyte tyrosine kinase); LY6E
(Lymphocyte antigen 6 complex, locus E); MAD1L1 (MAD1 (mitotic arrest
deficient, yeast, homolog)-like 1); MAD2L1 (MAD2 (mitotic arrest deficient,
yeast, homolog)-like 1); MATK (Megakaryocyte-associated tyrosine kinase); MCL1
(Myeloid cell leukemia sequence 1 (BCL2-related)); MCM4 (Minichromosome
maintenance deficient (S. cerevisiae) 4); MEKK3 (MAP/ERK kinase kinase 3);
MEKK5 (MAP/ERK kinase kinase 5); MKI67 (Antigen identified by monoclonal
antibody Ki-67); MST1R (Macrophage stimulating 1 receptor (c-met-related
tyrosine kinase)); NCK1 (NCK adaptor protein 1); NEK3 (NIMA (never in mitosis
gene a)-related kinase); NME1 (Non-metastatic cells 1, protein (NM23A)
expressed in); NME2 (Non-metastatic cells 2, protein (NM23B) expressed in);
NOS2A (Nitric oxide synthase 2A (inducible, hepatocytes)); NPM1 (Nucleophosmin
(nucleolar phosphoprotein B23, numatrin)); NTRK3 (Neurotrophic tyrosine kinase,
receptor, type 3); OAS1 (2',5'-oligoadenylate synthetase 1); PA2G4
(Proliferation-associated 2G4, 38kD); PCNA (Proliferating cell nuclear
antigen); PCTK3 (PCTAIRE protein kinase 3); PDGFRB (Platelet-derived growth
factor receptor, beta polypeptide); PDK2 (Pyruvate dehydrogenase kinase,
isoenzyme 2); PDK4 (Pyruvate dehydrogenase kinase, isoenzyme 4); PDPK1
(3-phosphoinositide dependent protein kinase-1); PHKA2 (Phosphorylase kinase,
alpha 2 (liver), glycogen storage disease IX); PHKG2 (Phosphorylase kinase,
gamma 2 (testis)); PIK3CA (Phosphoinositide-3-kinase, catalytic, alpha
polypeptide); PIK3CG (Phosphoinositide-3-kinase, catalytic, gamma polypeptide);
PIM1 (Pim-1 oncogene); POLB (Polymerase (DNA directed), beta); POLD1 (Polymerase
(DNA directed), delta 1, catalytic subunit (125kD)); PPP1CA (Protein
phosphatase 1, catalytic subunit, alpha isoform); PPP1CB (Protein phosphatase
1, catalytic subunit, beta isoform); PPP1CC (Protein phosphatase 1, catalytic
subunit, gamma isoform); PPP1R3 (Protein phosphatase 1, regulatory (inhibitor)
subunit 3 (glycogen and sarcoplasmic reticulum binding subunit, skeletal
muscle)); PPP2CA (Protein phosphatase 2 (formerly 2A), catalytic subunit, alpha
isoform); PPP2R1B (Protein phosphatase 2 (formerly 2A), regulatory subunit A
(PR 65), beta isoform); PPP2R2A (Protein phosphatase 2 (formerly 2A),
regulatory subunit B (PR 52), alpha isoform); PPP2R3 (Protein phosphatase 2
(formerly 2A), regulatory subunit B'' (PR 72), alpha isoform and (PR 130), beta
isoform); PPP2R4 (Protein phosphatase 2A, regulatory subunit B' (PR 53));
PPP2R5A (Protein phosphatase 2, regulatory subunit B (B56), alpha isoform);
PPP2R5B (Protein phosphatase 2, regulatory subunit B (B56), beta isoform);
PPP2R5D (Protein phosphatase 2, regulatory subunit B (B56), delta isoform);
PPP2R5E (Protein phosphatase 2, regulatory subunit B (B56), epsilon isoform);
PPP3CA (Protein phosphatase 3 (formerly 2B), catalytic subunit, alpha isoform
(calcineurin A alpha)); PPP3CB (Protein phosphatase 3 (formerly 2B), catalytic
subunit, beta isoform (calcineurin A beta)); PPP4C (Protein phosphatase 4
(formerly X), catalytic subunit); PRKAA2 (Protein kinase, AMP-activated, alpha
2 catalytic subunit); PRKACA (Protein kinase, cAMP-dependent, catalytic, alpha);
PRKACB (Protein kinase, cAMP-dependent, catalytic, beta); PRKACG (Protein
kinase, cAMP-dependent, catalytic, gamma); PRKAG1 (Protein kinase,
AMP-activated, gamma 1 non-catalytic subunit); PRKAR1A (Protein kinase,
cAMP-dependent, regulatory, type I, alpha (tissue specific extinguisher 1));
PRKAR1B (Protein kinase, cAMP-dependent, regulatory, type I, beta); PRKAR2B
(Protein kinase, cAMP-dependent, regulatory, type II, beta); PRKCA (Protein
kinase C, alpha); PRKCB1 (Protein kinase C, beta 1); PRKCG (Protein kinase C,
gamma); PRKCI (Protein kinase C, iota); PRKCL1 (Protein kinase C-like 1);
PRKCL2 (Protein kinase C-like 2); PRKCM (Protein kinase C, mu); PRKCQ (Protein
kinase C, theta); PRKCZ (Protein kinase C, zeta); PRKG1 (Protein kinase,
cGMP-dependent, type I); PRKG2 (Protein kinase, cGMP-dependent, type II); PRKM1
(Protein kinase, mitogen-activated 1 (MAP kinase 1; p40, p41)); PRKM10 (Protein
kinase mitogen-activated 10 (MAP kinase)); PRKM11 (Protein kinase mitogen-
activated 11); PRKM13 (Protein kinase mitogen- activated 13); PRKM3 (Protein
kinase, mitogen-activated 3 (MAP kinase 3; p44)); PRKM6 (Protein kinase,
mitogen-activated 6 (extracellular signal-regulated kinase, p97)); PRKM7
(Protein kinase mitogen-activated 7 (MAP kinase)); PRKM8 (Protein kinase
mitogen-activated 8 (MAP kinase)); PRKM9 (Protein kinase mitogen-activated 9
(MAP kinase)); PRKMK2 (Protein kinase, mitogen-activated, kinase 2, p45 (MAP
kinase kinase 2)); PRKMK3 (Protein kinase, mitogen-activated, kinase 3 (MAP
kinase kinase 3)); PRKMK5 (Protein kinase, mitogen-activated, kinase 5 (MAP
kinase kinase 5)); PRKMK7 (Protein kinase, mitogen-activated, kinase 7 (MAP
kinase kinase 7)); PRKR (Protein kinase, interferon-inducible double stranded
RNA dependent); PTEN (Phosphatase and tensin homolog (mutated in multiple
advanced cancers 1)); PTK7 (PTK7 protein tyrosine kinase 7); PTK9 (Protein
tyrosine kinase 9); PTPN1 (Protein tyrosine phosphatase, non-receptor type 1);
PTPN12 (Protein tyrosine phosphatase, non-receptor type 12); PTPN13 (Protein tyrosine
phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase));
PTPN2 (Protein tyrosine phosphatase, non-receptor type 2); PTPN3 (Protein
tyrosine phosphatase, non-receptor type 3); PTPN4 (Protein tyrosine
phosphatase, non-receptor type 4 (megakaryocyte)); PTPN6 (Protein tyrosine
phosphatase, non-receptor type 6); PTPN7 (Protein tyrosine phosphatase,
non-receptor type 7); PTPN9 (Protein tyrosine phosphatase, non-receptor type
9); PTPRA (Protein tyrosine phosphatase, receptor type, alpha polypeptide);
PTPRB (Protein tyrosine phosphatase, receptor type, beta polypeptide); PTPRC
(Protein tyrosine phosphatase, receptor type, c polypeptide); PTPRD (Protein
tyrosine phosphatase, receptor type, D); PTPRF (Protein tyrosine phosphatase,
receptor type, F); PTPRG (Protein tyrosine phosphatase, receptor type, gamma
polypeptide); PTPRH (Protein tyrosine phosphatase, receptor type, H); PTPRK
(Protein tyrosine phosphatase, receptor type, K); PTPRM (Protein tyrosine
phosphatase, receptor type, M); PTPRN (Protein tyrosine phosphatase, receptor
type, N); PTPRN2 (Protein tyrosine phosphatase, receptor type, N polypeptide
2); PTX3 (Pentaxin-related gene, rapidly induced by IL-1 beta); RAB8IP (Rab8
interacting protein (GC kinase)); RAB8IP (Rab8 interacting protein (GC
kinase)); RAD9 (RAD9 (S. pombe) homolog); RAD9 (RAD9 (S. pombe) homolog); RBL1
(Retinoblastoma-like 1 (p107)); RET (Ret proto-oncogene (multiple endocrine
neoplasia MEN2A, MEN2B and medullary thyroid carcinoma 1, Hirschsprung
disease)); RHOK (Rhodopsin kinase); ROCK1 (Rho-associated, coiled-coil
containing protein kinase 1); RPS6KA2 (Ribosomal protein S6 kinase, 90kD,
polypeptide 2); RPS6KB1 (Ribosomal protein S6 kinase, 70kD, polypeptide 1); RYK
(RYK receptor-like tyrosine kinase); SAPK3 (Stress-activated protein kinase 3);
SERK1 (SAPK/Erk kinase 1); SRC (V-src avian sarcoma (Schmidt-Ruppin A-2) viral
oncogene homolog); SRF (Serum response factor (c-fos serum response
element-binding transcription factor)); SRPK2 (SFRS protein kinase 2); STK11 (Serine/threonine
kinase 11 (Peutz-Jeghers syndrome)); STK2 (Serine/threonine kinase 2); STK3
(Serine/threonine kinase 3 (Ste20, yeast homolog)); STK4 (Serine/threonine
kinase 4); SYK (Spleen tyrosine kinase); TCEB1L (Transcription elongation
factor B (SIII), polypeptide 1-like); TESK1 (Testis-specific kinase 1); TFDP2
(Transcription factor Dp-2 (E2F dimerization partner 2)); TGFBI (Transforming
growth factor, beta-induced, 68kD); TIEG (TGFB inducible early growth
response); TK2 (Thymidine kinase 2, mitochondrial); TNFAIP1 (Tumor necrosis
factor, alpha-induced protein 1 (endothelial)); TNFSF5 (Tumor necrosis factor
(ligand) superfamily, member 5); TS546 (Temperature sensitivity
complementation, cell cycle specific,); TTK (TTK protein kinase); TXK (TXK
tyrosine kinase); TYK2 (Tyrosine kinase 2); TYRO3 (TYRO3 protein tyrosine
kinase); VRK2 (Vaccinia related kinase 2); ZAP70 (Zeta-chain (TCR) associated
protein kinase (70 kD)); and ZPK (Zipper (leucine) protein kinase).
【０１１０】
細胞情報伝達
ABL1 (V-abl Abelson murine leukemia viral oncogene homolog 1); ABL2
(V-abl Abelson murine leukemia viral oncogene homolog 2 (arg, Abelson-related
gene)); ABR (Active BCR-related gene); ACP1 (Acid phosphatase 1, soluble); ACP2
(Acid phosphatase 2, lysosomal); ACP5 (Acid phosphatase 5, tartrate resistant);
ACPP (Acid phosphatase, prostate); ACTG1 (Actin, gamma 1); ACVR1B (Activin A
receptor, type IB); ADD3 (Adducin 3 (gamma)); ADK (Adenosine kinase); ADRBK1
(Adrenergic, beta, receptor kinase 1); AIF1 (Allograft inflammatory factor 1); AK1
(Adenylate kinase 1); AK2 (Adenylate kinase 2); AK3 (Adenylate kinase 3); AKT1
(V-akt murine thymoma viral oncogene homolog 1); AKT2 (V-akt murine thymoma
viral oncogene homolog 2); ALCAM (Activated leucocyte cell adhesion molecule);
ALOX12 (Arachidonate 12-lipoxygenase); ALOX5 (Arachidonate 5-lipoxygenase);
ALPI (Alkaline phosphatase, intestinal); ALPL (Alkaline phosphatase,
liver/bone/kidney); ALPP (Alkaline phosphatase, placental (Regan isozyme));
ANK1 (Ankyrin 1, erythrocytic); ANT2 (Adenine nucleotide translocator 2
(fibroblast)); ARAF1 (V-raf murine sarcoma 3611 viral oncogene homolog 1); ARHA
(Ras homolog gene family, member A); ARHC (Ras homolog gene family, member C);
ARHGDIB (Rho GDP dissociation inhibitor (GDI) beta); BLK (B lymphoid tyrosine kinase);
BMPR2 (Bone morphogenetic protein receptor, type II (serine/threonine kinase));
BMX (BMX non-receptor tyrosine kinase); BRAF (V-raf murine sarcoma viral
oncogene homolog B1); BTK (Bruton agammaglobulinemia tyrosine kinase); CAK
(Cell adhesion kinase); CALM1 (Calmodulin 1 (phosphorylase kinase, delta));
CAMK4 (Calcium/calmodulin-dependent protein kinase IV); CBLB (Cas-Br-M (murine)
ectropic retroviral transforming sequence b); CD44 (CD44 antigen (homing
function and Indian blood group system)); CD47 (CD47 antigen (Rh-related
antigen, integrin-associated signal transducer)); CD48 (CD48 antigen (B-cell
membrane protein)); CD58 (CD58 antigen, (lymphocyte function-associated antigen
3)); CD69 (CD69 antigen (p60, early T-cell activation antigen)); CDC25A (Cell
division cycle 25A); CDC25C (Cell division cycle 25C); CDC2L1 (Cell division
cycle 2-like 1 (PITSLRE proteins)); CDC42 (Cell division cycle 42 (GTP-binding
protein, 25kD)); CDC42 (Cell division cycle 42 (GTP-binding protein, 25kD));
CDC7L1 (CDC7 (cell division cycle 7, S. cerevisiae, homolog)-like 1); CDH13
(Cadherin 13, H-cadherin (heart)); CDH17 (Cadherin 17, LI cadherin
(liver-intestine)); CDH2 (Cadherin 2, N-cadherin (neuronal)); CDH4 (Cadherin 4,
R-cadherin (retinal)); CDH5 (Cadherin 5, VE-cadherin (vascular epithelium));
CDK2 (Cyclin-dependent kinase 2); CDK5 (Cyclin-dependent kinase 5); CDK6
(Cyclin-dependent kinase 6); CDK7 (Cyclin-dependent kinase 7 (homolog of
Xenopus MO15 cdk-activating kinase)); CDK8 (Cyclin-dependent kinase 8); CDKN2B
(Cyclin-dependent kinase inhibitor 2B (p15, inhibits CDK4)); CHEK1 (CHK1
(checkpoint, S.pombe) homolog); CHUK (Conserved helix-loop-helix ubiquitous
kinase); CKS1 (CDC28 protein kinase 1); CKS2 (CDC28 protein kinase 2); CLGN
(Calmegin); CLK2 (CDC-like kinase 2); CLK3 (CDC-like kinase 3); CLTB (Clathrin,
light polypeptide (Lcb)); CNK (Cytokine-inducible kinase); COT (Cot (cancer
Osaka thyroid) oncogene); CSNK1A1 (Casein kinase 1, alpha 1); CSNK1D (Casein
kinase 1, delta); CSNK1E (Casein kinase 1, epsilon); CSNK2A2 (Casein kinase 2,
alpha prime polypeptide); CSNK2B (Casein kinase 2, beta polypeptide); CTNNA1
(Catenin (cadherin-associated protein), alpha 1 (102kD)); CTNNB1 (Catenin
(cadherin-associated protein), beta 1 (88kD)); CTNND2 (Catenin
(cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat
protein)); DAPK1 (Death-associated protein kinase 1); DGKA (Diacylglycerol
kinase, alpha (80kD)); DGKG (Diacylglycerol kinase, gamma (90kD)); DGKQ
(Diacylglycerol kinase, theta (110kD)); DMPK (Dystrophia myotonica-protein
kinase); DUSP3 (Dual specificity phosphatase 3 (vaccinia virus phosphatase
VH1-related)); DUSP4 (Dual specificity phosphatase 4); DVL3 (Dishevelled 3
(homologous to Drosophila dsh)); DYRK1 (Dual-specificity
tyrosine-(Y)-phosphorylation regulated kinase 1); EFNA1 (Ephrin-A1); EFNA5
(Ephrin-A5); EFNB1 (Ephrin-B1); EFNB2 (Ephrin-B2); EGR1 (Early growth response
1); EGR3 (Early growth response 3); EGR4 (Early growth response 4); EPHA2
(EphA2); EPHA4 (EphA4); EPHA5 (EphA5); EPHA7 (EphA7); EPHB3 (EphB3); EPHB4
(EphB4); EPHB6 (EphB6); ERBB3 (V-erb-b2 avian erythroblastic leukemia viral
oncogene homolog 3); FAP (Fibroblast activation protein, alpha); FAT (FAT tumor
suppressor (Drosophila) homolog); FBL (Fibrillarin); FES (Feline sarcoma (Snyder-Theilen)
viral (v-fes)/Fujinami avian sarcoma (PRCII) viral (v-fps) oncogene homolog);
FGFR1 (Fibroblast growth factor receptor 1 (fms-related tyrosine kinase 2,
Pfeiffer syndrome)); FGFR2 (Fibroblast growth factor receptor 2
(bacteria-expressed kinase, keratinocyte growth factor receptor, craniofacial
dysostosis 1, Crouzon syndrome, Pfeiffer syndrome, Jackson-Weiss syndrome));
FGR (Gardner-Rasheed feline sarcoma viral (v-fgr) oncogene homolog); FLNA
(Filamin A, alpha (actin-binding protein-280)); FLT1 (Fms-related tyrosine
kinase 1 (vascular endothelial growth factor/vascular permeability factor
receptor)); FLT3LG (Fms-related tyrosine kinase 3 ligand); FLT4 (Fms-related
tyrosine kinase 4); FN1 (Fibronectin 1); FRK (Fyn-related kinase); FYB
(FYN-binding protein (FYB-120/130)); G1P3 (Interferon, alpha-inducible protein
(clone IFI-6-16)); GBP1 (Guanylate binding protein 1, interferon-inducible,
67kD); GBP2 (Guanylate binding protein 2, interferon-inducible); GJB1 (Gap
junction protein, beta 1, 32kD (connexin 32, Charcot-Marie-Tooth neuropathy,
X-linked)); GLA (Galactosidase, alpha); GNAI1 (Guanine nucleotide binding
protein (G protein), alpha inhibiting activity polypeptide 1); GNG10 (Guanine
nucleotide binding protein 10); GPRK6 (G protein-coupled receptor kinase 6);
GRB2 (Growth factor receptor-bound protein 2); HMMR (Hyaluronan-mediated
motility receptor (RHAMM)); HMR (Hormone receptor (growth factor-inducible
nuclear protein N10)); ICAM1 (Intercellular adhesion molecule 1 (CD54), human
rhinovirus receptor); ICAM2 (Intercellular adhesion molecule 2); ICAM3
(Intercellular adhesion molecule 3); IFI16 (Interferon, gamma-inducible protein
16); IFI56 (Interferon-induced protein 56); IFIT4 (Interferon-induced protein
with tetratricopeptide repeats 4); IGFBP1 (Insulin-like growth factor binding
protein 1); ILK (Integrin-linked kinase); INP10 (Interferon (gamma)-induced
cell line; protein 10 from); INPP5D (Inositol polyphosphate-5-phosphatase,
145kD); ISG20 (Interferon stimulated gene (20kD)); ITGA2 (Integrin, alpha 2 (CD49B,
alpha 2 subunit of VLA-2 receptor)); ITGA3 (Integrin, alpha 3 (antigen CD49C,
alpha 3 subunit of VLA-3 receptor)); ITGA4 (Integrin, alpha 4 (antigen CD49D,
alpha 4 subunit of VLA-4 receptor)); ITGA5 (Integrin, alpha 5 (fibronectin
receptor, alpha polypeptide)); ITGA6 (Integrin, alpha 6); ITGA7 (Integrin,
alpha 7); ITGA9 (Integrin, alpha 9); ITGAE (Integrin, alpha E (antigen CD103,
human mucosal lymphocyte antigen 1; alpha polypeptide)); ITGAL (Integrin, alpha
L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha
polypeptide)); ITGAM (Integrin, alpha M (complement component receptor 3,
alpha; also known as CD11b (p170), macrophage antigen alpha polypeptide));
ITGAV (Integrin, alpha V (vitronectin receptor, alpha polypeptide, antigen
CD51)); ITGAX (Integrin, alpha X (antigen CD11C (p150), alpha polypeptide));
ITGB1 (Integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29
includes MDF2, MSK12)); ITGB2 (Integrin, beta 2 (antigen CD18 (p95), lymphocyte
function-associated antigen 1; macrophage antigen 1 (mac-1) beta subunit));
ITGB3 (Integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)); ITGB4
(Integrin, beta 4); ITGB5 (Integrin, beta 5); ITGB7 (Integrin, beta 7); ITGB8
(Integrin, beta 8); ITPKB (Inositol 1,4,5-trisphosphate 3-kinase B); JAK1
(Janus kinase 1 (a protein tyrosine kinase)); JAK3 (Janus kinase 3 (a protein
tyrosine kinase, leukocyte)); KCNN3 (Potassium intermediate/small conductance
calcium-activated channel, subfamily N, member 3); KDR (Kinase insert domain
receptor (a type III receptor tyrosine kinase)); KPNB1 (Karyopherin (importin)
beta 1); LCAT (Lecithin-cholesterol acyltransferase); LIMK1 (LIM domain kinase
1); LIMK2 (LIM domain kinase 2); LRP1 (Low density lipoprotein-related protein
1 (alpha-2-macroglobulin receptor)); LTK (Leukocyte tyrosine kinase); LY6E
(Lymphocyte antigen 6 complex, locus E); MADH1 (MAD (mothers against
decapentaplegic, Drosophila) homolog 1); MADH2 (MAD (mothers against
decapentaplegic, Drosophila) homolog 2); MADH3 (MAD (mothers against
decapentaplegic, Drosophila) homolog 3); MAP1B (Microtubule-associated protein
1B); MATK (Megakaryocyte-associated tyrosine kinase); MCL1 (Myeloid cell
leukemia sequence 1 (BCL2-related)); MEKK3 (MAP/ERK kinase kinase 3); MEKK5
(MAP/ERK kinase kinase 5); MST1R (Macrophage stimulating 1 receptor
(c-met-related tyrosine kinase)); MX1 (Myxovirus (influenza) resistance 1,
homolog of murine (interferon-inducible protein p78)); MX2 (Myxovirus
(influenza) resistance 2, homolog of murine); MYL2 (Myosin, light polypeptide
2, regulatory, cardiac, slow); MYL3 (Myosin, light polypeptide 3, alkali;
ventricular, skeletal, slow); NCAM1 (Neural cell adhesion molecule 1); NCK1
(NCK adaptor protein 1); NEK3 (NIMA (never in mitosis gene a)-related kinase);
NME1 (Non-metastatic cells 1, protein (NM23A) expressed in); NME2
(Non-metastatic cells 2, protein (NM23B) expressed in); NOS2A (Nitric oxide
synthase 2A (inducible, hepatocytes)); NPM1 (Nucleophosmin (nucleolar
phosphoprotein B23, numatrin)); NTRK3 (Neurotrophic tyrosine kinase, receptor,
type 3); OAS1 (2',5'-oligoadenylate synthetase 1); OCLN (Occludin); PCDH1
(Protocadherin 1 (cadherin-like 1)); PCTK3 (PCTAIRE protein kinase 3); PDE4B
(Phosphodiesterase 4B, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase
E4)); PDGFRB (Platelet-derived growth factor receptor, beta polypeptide); PDK2
(Pyruvate dehydrogenase kinase, isoenzyme 2); PDK4 (Pyruvate dehydrogenase
kinase, isoenzyme 4); PDPK1 (3-phosphoinositide dependent protein kinase-1);
PECAM1 (Platelet/endothelial cell adhesion molecule (CD31 antigen)); PGY3 (P
glycoprotein 3/multiple drug resistance 3); PHKA2 (Phosphorylase kinase, alpha
2 (liver), glycogen storage disease IX); PHKG2 (Phosphorylase kinase, gamma 2
(testis)); PIK3C3 (Phosphoinositide-3-kinase, class 3); PIK3CA
(Phosphoinositide-3-kinase, catalytic, alpha polypeptide); PIK3CA
(Phosphoinositide-3-kinase, catalytic, alpha polypeptide); PIK3CG
(Phosphoinositide-3-kinase, catalytic, gamma polypeptide); PIM1 (Pim-1
oncogene); PKD1 (Polycystic kidney disease 1 (autosomal dominant)); PLA2G2A
(Phospholipase A2, group IIA (platelets, synovial fluid)); PLCB4 (Phospholipase
C, beta 4); PLCE (Phospholipase C, epsilon); PLCG2 (Phospholipase C, gamma 2
(phosphatidylinositol-specific)); PPP1CA (Protein phosphatase 1, catalytic
subunit, alpha isoform); PPP1CB (Protein phosphatase 1, catalytic subunit, beta
isoform); PPP1CC (Protein phosphatase 1, catalytic subunit, gamma isoform);
PPP1R3 (Protein phosphatase 1, regulatory (inhibitor) subunit 3 (glycogen and sarcoplasmic
reticulum binding subunit, skeletal muscle)); PPP2CA (Protein phosphatase 2
(formerly 2A), catalytic subunit, alpha isoform); PPP2R1B (Protein phosphatase
2 (formerly 2A), regulatory subunit A (PR 65), beta isoform); PPP2R2A (Protein
phosphatase 2 (formerly 2A), regulatory subunit B (PR 52), alpha isoform);
PPP2R3 (Protein phosphatase 2 (formerly 2A), regulatory subunit B'' (PR 72),
alpha isoform and (PR 130), beta isoform); PPP2R4 (Protein phosphatase 2A,
regulatory subunit B' (PR 53)); PPP2R5A (Protein phosphatase 2, regulatory
subunit B (B56), alpha isoform); PPP2R5B (Protein phosphatase 2, regulatory
subunit B (B56), beta isoform); PPP2R5D (Protein phosphatase 2, regulatory
subunit B (B56), delta isoform); PPP2R5E (Protein phosphatase 2, regulatory
subunit B (B56), epsilon isoform); PPP3CA (Protein phosphatase 3 (formerly 2B),
catalytic subunit, alpha isoform (calcineurin A alpha)); PPP3CB (Protein
phosphatase 3 (formerly 2B), catalytic subunit, beta isoform (calcineurin A
beta)); PPP4C (Protein phosphatase 4 (formerly X), catalytic subunit); PRKAA2
(Protein kinase, AMP-activated, alpha 2 catalytic subunit); PRKACA (Protein
kinase, cAMP-dependent, catalytic, alpha); PRKACB (Protein kinase,
cAMP-dependent, catalytic, beta); PRKACG (Protein kinase, cAMP-dependent,
catalytic, gamma); PRKAG1 (Protein kinase, AMP-activated, gamma 1 non-catalytic
subunit); PRKAR1A (Protein kinase, cAMP-dependent, regulatory, type I, alpha
(tissue specific extinguisher 1)); PRKAR1B (Protein kinase, cAMP-dependent,
regulatory, type I, beta); PRKAR2B (Protein kinase, cAMP-dependent, regulatory,
type II, beta); PRKCA (Protein kinase C, alpha); PRKCB1 (Protein kinase C, beta
1); PRKCG (Protein kinase C, gamma); PRKCI (Protein kinase C, iota); PRKCL1
(Protein kinase C-like 1); PRKCL2 (Protein kinase C-like 2); PRKCM (Protein
kinase C, mu); PRKCQ (Protein kinase C, theta); PRKCZ (Protein kinase C, zeta);
PRKG1 (Protein kinase, cGMP-dependent, type I); PRKG2 (Protein kinase,
cGMP-dependent, type II); PRKM1 (Protein kinase, mitogen-activated 1 (MAP
kinase 1; p40, p41)); PRKM10 (Protein kinase mitogen-activated 10 (MAP
kinase)); PRKM11 (Protein kinase mitogen- activated 11); PRKM13 (Protein kinase
mitogen- activated 13); PRKM3 (Protein kinase, mitogen-activated 3 (MAP kinase
3; p44)); PRKM6 (Protein kinase, mitogen-activated 6 (extracellular
signal-regulated kinase, p97)); PRKM7 (Protein kinase mitogen-activated 7 (MAP
kinase)); PRKM8 (Protein kinase mitogen-activated 8 (MAP kinase)); PRKM9
(Protein kinase mitogen-activated 9 (MAP kinase)); PRKMK2 (Protein kinase,
mitogen-activated, kinase 2, p45 (MAP kinase kinase 2)); PRKMK3 (Protein
kinase, mitogen-activated, kinase 3 (MAP kinase kinase 3)); PRKMK5 (Protein
kinase, mitogen-activated, kinase 5 (MAP kinase kinase 5)); PRKMK7 (Protein
kinase, mitogen-activated, kinase 7 (MAP kinase kinase 7)); PRKR (Protein
kinase, interferon-inducible double stranded RNA dependent); PRKR (Protein
kinase, interferon-inducible double stranded RNA dependent); PSME1 (Proteasome
(prosome, macropain) activator subunit 1 (PA28 alpha)); PTEN (Phosphatase and
tensin homolog (mutated in multiple advanced cancers 1)); PTK7 (PTK7 protein
tyrosine kinase 7); PTK9 (Protein tyrosine kinase 9); PTPN1 (Protein tyrosine
phosphatase, non-receptor type 1); PTPN12 (Protein tyrosine phosphatase,
non-receptor type 12); PTPN13 (Protein tyrosine phosphatase, non-receptor type
13 (APO-1/CD95 (Fas)-associated phosphatase)); PTPN2 (Protein tyrosine
phosphatase, non-receptor type 2); PTPN3 (Protein tyrosine phosphatase,
non-receptor type 3); PTPN4 (Protein tyrosine phosphatase, non-receptor type 4
(megakaryocyte)); PTPN6 (Protein tyrosine phosphatase, non-receptor type 6);
PTPN7 (Protein tyrosine phosphatase, non-receptor type 7); PTPN9 (Protein
tyrosine phosphatase, non-receptor type 9); PTPRA (Protein tyrosine
phosphatase, receptor type, alpha polypeptide); PTPRB (Protein tyrosine
phosphatase, receptor type, beta polypeptide); PTPRC (Protein tyrosine
phosphatase, receptor type, c polypeptide); PTPRD (Protein tyrosine
phosphatase, receptor type, D); PTPRF (Protein tyrosine phosphatase, receptor
type, F); PTPRG (Protein tyrosine phosphatase, receptor type, gamma
polypeptide); PTPRH (Protein tyrosine phosphatase, receptor type, H); PTPRK
(Protein tyrosine phosphatase, receptor type, K); PTPRM (Protein tyrosine
phosphatase, receptor type, M); PTPRN (Protein tyrosine phosphatase, receptor
type, N); PTPRN2 (Protein tyrosine phosphatase, receptor type, N polypeptide
2); PTX3 (Pentaxin-related gene, rapidly induced by IL-1 beta); RAB8IP (Rab8
interacting protein (GC kinase)); RAB8IP (Rab8 interacting protein (GC
kinase)); RAD9 (RAD9 (S. pombe) homolog); RASA1 (RAS p21 protein activator
(GTPase activating protein) 1); RET (Ret proto-oncogene (multiple endocrine
neoplasia MEN2A, MEN2B and medullary thyroid carcinoma 1, Hirschsprung
disease)); RGS1 (Regulator of G-protein signalling 1); RGS16 (Regulator of
G-protein signalling 16); RGS7 (Regulator of G-protein signalling 7); RHOK
(Rhodopsin kinase); ROCK1 (Rho-associated, coiled-coil containing protein
kinase 1); RPS6KA2 (Ribosomal protein S6 kinase, 90kD, polypeptide 2); RPS6KB1
(Ribosomal protein S6 kinase, 70kD, polypeptide 1); RSN (Restin (Reed-Steinberg
cell-expressed intermediate filament-associated protein)); RYK (RYK
receptor-like tyrosine kinase); SAPK3 (Stress-activated protein kinase 3); SELE
(Selectin E (endothelial adhesion molecule 1)); SELL (Selectin L (lymphocyte
adhesion molecule 1)); SELP (Selectin P (granule membrane protein 140kD,
antigen CD62)); SERK1 (SAPK/Erk kinase 1); SFN (Stratifin); SH3D1B (SH3 domain
protein 1B); SLC2A3 (Solute carrier family 2 (facilitated glucose transporter),
member 3); SLC2A5 (Solute carrier family 2 (facilitated glucose transporter),
member 5); SPTA1 (Spectrin, alpha, erythrocytic 1 (elliptocytosis 2)); SPTB
(Spectrin, beta, erythrocytic (includes sperocytosis, clinical type I)); SRC
(V-src avian sarcoma (Schmidt-Ruppin A-2) viral oncogene homolog); SRF (Serum
response factor (c-fos serum response element-binding transcription factor));
SRPK2 (SFRS protein kinase 2); STK11 (Serine/threonine kinase 11 (Peutz-Jeghers
syndrome)); STK2 (Serine/threonine kinase 2); STK3 (Serine/threonine kinase 3
(Ste20, yeast homolog)); STK4 (Serine/threonine kinase 4); SYK (Spleen tyrosine
kinase); TAP1 (Transporter 1, ABC (ATP binding cassette)); TAPBP (TAP binding
protein (tapasin)); TBCC (Tubulin-specific chaperone c); TESK1 (Testis-specific
kinase 1); TGFBI (Transforming growth factor, beta-induced, 68kD); THBS1
(Thrombospondin 1); TIAM1 (T-cell lymphoma invasion and metastasis 1); TIEG
(TGFB inducible early growth response); TK2 (Thymidine kinase 2,
mitochondrial); TNFAIP1 (Tumor necrosis factor, alpha-induced protein 1
(endothelial)); TNFAIP1 (Tumor necrosis factor, alpha-induced protein 1
(endothelial)); TNFSF5 (Tumor necrosis factor (ligand) superfamily, member 5);
TTK (TTK protein kinase); TTN (Titin); TUBA1 (Tubulin, alpha 1 (testis
specific)); TUBG (Tubulin, gamma polypeptide); TXK (TXK tyrosine kinase); TYK2
(Tyrosine kinase 2); TYRO3 (TYRO3 protein tyrosine kinase); UBE1L
(Ubiquitin-activating enzyme E1, like); UBE2A (Ubiquitin-conjugating enzyme E2A
(RAD6 homolog)); UBE2B (Ubiquitin-conjugating enzyme E2B (RAD6 homolog)); VASP
(Vasodilator-stimulated phosphoprotein); VAV2 (Vav 2 oncogene); VCAM1 (Vascular
cell adhesion molecule 1); VCL (Vinculin); VIM (Vimentin); VRK2 (Vaccinia
related kinase 2); WAS (Wiskott-Aldrich syndrome (ecezema-thrombocytopenia));
ZAP70 (Zeta-chain (TCR) associated protein kinase (70 kD)); and ZPK (Zipper
(leucine) protein kinase).
【０１１１】
発達
ACCPN (Agenesis of corpus callosum and peripheral neuropathy
(Andermann); ACVR1 (Activin A receptor, type I); ACVR1B (Activin A receptor,
type IB); ACVR2 (Activin A receptor, type II); ACVR2B (Activin A receptor, type
IIB); ACVRL1 (Activin A receptor type II-like 1); ADFN (Albinism-deafness
syndrome); AES (Amino-terminal enhancer of split); AFD1 (Acrofacial dysostosis
1, Nager type); AGC1 (Aggrecan 1 (chondroitin sulfate proteoglycan 1, large
aggregating proteoglycan, antigen identified by monoclonal antibody A0122));
AHO2 (Albright hereditary osteodystrophy-2); AIH3 (Amelogenesis imperfecta 3,
hypomaturation or hypoplastic type); ALX3 (Aristaless-like homeobox 3); AMCD1
(Arthrogryposis multiplex congenital, distal, type 1); AMCD2B (Arthrogryposis
multiplex congenita, distal, type 2B); AMCN (Arthrogryposis multiplex
congenita, neurogenic); AMCX1 (Arthrogryposis multiplex congenita, X-linked
(spinal muscular atrophy,); AMDM (Acromesomelic dysplasia, Maroteaux type); AMH
(Anti-Mullerian hormone); AMHR2 (Anti-Mullerian hormone receptor, type II);
AMMECR1 (Alport syndrome, mental retardation, midface hypoplasia and
elliptocytosis chromosomal region, gene 1); ANOP1 (Anophthalmos 1 (with mental
retardation, without limb anomalies or dental or urogenital abnormalities));
APC (Adenomatosis polyposis coli); ARIX (Aristaless (Drosophila) homeobox);
ARVCF (Armadillo repeat gene deletes in velocardiofacial syndrome); ASCL1
(Achaete-scute complex (Drosophila) homolog-like 1); ASCL2 (Achaete-scute
complex (Drosophila) homolog-like 2); ASH2L (Ash2 (absent, small, or homeotic,
Drosophila, homolog)-like); ASMD (Anterior segment mesenchymal dysgenesis); ATD
(Asphixiating thoracic dystrophy (chondroectodermal dysplasia-like syndrome));
ATF4 (Activating transcription factor 4 (tax-responsive enhancer element B67));
AXIN1 (Axin); AXIN2 (Axin 2 (conductin, axil)); BAD (BCL2-antagonist of cell
death); BAPX1 (Bagpipe homeobox (Drosophila) homolog 1); BARD1 (BRCA1
associated RING domain 1); BARX2 (BarH-like homeobox 2); BAX (BCL2-associated X
protein); BDB1 (Brachydactyly type B1); BDC (); BDE (Brachydactyly type E);
BDMR (Brachydactyly-mental retardation syndrome); BDNF (Brain-derived
neurotrophic factor); BMP1 (Bone morphogenetic protein 1); BMP2 (Bone
morphogenetic protein 2); BMP3 (Bone morphogenetic protein 3 (osteogenic));
BMP4 (Bone morphogenetic protein 4); BMP5 (Bone morphogenetic protein 5); BMP6
(Bone morphogenetic protein 6); BMP7 (Bone morphogenetic protein 7 (osteogenic
protein 1)); BMPR1A (Bone morphogenetic protein receptor, type IA); BMPR1B
(Bone morphogenetic protein receptor, type IB); BMPR2 (Bone morphogenetic
protein receptor, type II (serine/threonine kinase)); CBFA1 (Core-binding
factor, runt domain, alpha subunit 1); CBFA2 (Core-binding factor, runt domain,
alpha subunit 2 (acute myeloid leukemia 1; aml1 oncogene)); CBFA3 (Core-binding
factor, runt domain, alpha subunit 3); CER1 (Cerberus 1 (Xenopus laevis)
homolog (cysteine knot superfamily)); CHH (Cartilage-hair hypoplasia); CHRD
(Chordin); CHX10 (C elegans ceh-10 homeo domain-containing homolog); CREB2
(CAMP responsive element binding protein 2); CSH2 (Chorionic somatomammotropin
hormone 2); DLK1 (Delta (Drosophila)-like 1); EBAF (Endometrial bleeding
associated factor (left-right determination, factor A; transforming growth
factor beta superfamily)); EDN1 (Endothelin 1); EDN2 (Endothelin 2); EDN3
(Endothelin 3); EDNRA (Endothelin receptor type A); EDNRB (Endothelin receptor
type B); EDR2 (Early development regulator 2 (homolog of polyhomeotic 2)); EED
(Embryonic ectoderm development protein); EFNA5 (Ephrin-A5); EN1 (Engrailed
homolog 1); EN2 (Engrailed homolog 2); ENG (Endoglin (Osler-Rendu-Weber
syndrome 1)); EOMES (Eomesodermin (Xenopus laevis) homolog); EPHA2 (EphA2);
EPHB2 (EphB2); FAST-1 (Human homolog of Xenopus forkhead activin signal
transducer-1); FGD1 (Faciogenital dysplasia (Aarskog-Scott syndrome)); FGF1
(Fibroblast growth factor 1 (acidic)); FGF10 (Fibroblast growth factor 10);
FGF13 (Fibroblast growth factor 13); FGF14 (Fibroblast growth factor 14); FGF16
(Fibroblast growth factor 16); FGF2 (Fibroblast growth factor 2 (basic)); FGF3
(Fibroblast growth factor 3 (murine mammary tumor virus integration site
(v-int-2) oncogene homolog)); FGF4 (Fibroblast growth factor 4 (heparin
secretory transforming protein 1, Kaposi sarcoma oncogene)); FGF7 (Fibroblast
growth factor 7 (keratinocyte growth factor)); FGF8 (Fibroblast growth factor 8
(androgen-induced)); FGFR1 (Fibroblast growth factor receptor 1 (fms-related
tyrosine kinase 2, Pfeiffer syndrome)); FGFR2 (Fibroblast growth factor
receptor 2 (bacteria-expressed kinase, keratinocyte growth factor receptor,
craniofacial dysostosis 1, Crouzon syndrome, Pfeiffer syndrome, Jackson-Weiss
syndrome)); FGFR3 (Fibroblast growth factor receptor 3 (achondroplasia, thanatophoric
dwarfism)); FGFR4 (Fibroblast growth factor receptor 4); FKHL16 (Forkhead
(Drosophila)-like 16); FKHL7 (Forkhead (Drosophila)-like 7); FRZB
(Frizzled-related protein); FZD1 (Frizzled (Drosophila) homolog 1); FZD2
(Frizzled (Drosophila) homolog 2); FZD3 (Frizzled (Drosophila) homolog 3); FZD4
(Frizzled (Drosophila) homolog 4); FZD5 (Frizzled (Drosophila) homolog 5); FZD6
(Frizzled (Drosophila) homolog 6); FZD7 (Frizzled (Drosophila) homolog 7); FZD8
(Frizzled (Drosophila) homolog 8); FZD9 (Frizzled (Drosophila) homolog 9); GDF5
(Growth differentiation factor 5 (cartilage-derived morphogenetic protein-1));
GLI (Glioma-associated oncogene homolog (zinc finger protein)); GLI2
(GLI-Kruppel family member GLI2); GLI3 (GLI-Kruppel family member GLI3 (Greig cephalopolysyndactyly
syndrome)); GLI4 (GLI-Kruppel family member GLI4); GSC (Goosecoid); GSCL
(Goosecoid-like); HESX1 (Homeo box gene expressed in ES cells; Rathke pouch
homeo box); HLXB9 (Homeo box HB9); HNF3A (Hepatocyte nuclear factor 3, alpha);
HNF3B (Hepatocyte nuclear factor 3, beta); HNF3G (Hepatocyte nuclear factor 3,
gamma); HNF4A (Hepatocyte nuclear factor 4, alpha); HNF4B (Hepatocyte nuclear
factor 4, beta); HNF4G (Hepatocyte nuclear factor 4, gamma); HNF6A (Hepatocyte
nuclear factor 6, alpha); HOX11 (Homeo box 11 (T-cell lymphoma 3-associated
breakpoint)); HOXA1 (Homeo box A1); HOXA10 (Homeo box A10); HOXA11 (Homeo box
A11); HOXA13 (Homeo box A13); HOXA2 (Homeo box A2); HOXA3 (Homeo box A3); HOXA4
(Homeo box A4); HOXA5 (Homeo box A5); HOXA6 (Homeo box A6); HOXA7 (Homeo box
A7); HOXA9 (Homeo box A9); HOXA@ (Homeo box A cluster); HOXB1 (Homeo box B1);
HOXB2 (Homeo box B2); HOXB3 (Homeo box B3); HOXB4 (Homeo box B4); HOXB5 (Homeo
box B5); HOXB6 (Homeo box B6); HOXB7 (Homeo box B7); HOXB8 (Homeo box B8);
HOXB9 (Homeo box B9); HOXC10 (Homeo box C10); HOXC11 (Homeo box C11); HOXC12
(Homeo box C12); HOXC13 (Homeo box C13); HOXC4 (Homeo box C4); HOXC5 (Homeo box
C5); HOXC6 (Homeo box C6); HOXC8 (Homeo box C8); HOXC9 (Homeo box C9); HOXD1
(Homeo box D1); HOXD10 (Homeo box D10); HOXD11 (Homeo box D11); HOXD12 (Homeo
box D12); HOXD13 (Homeo box D13); HOXD3 (Homeo box D3); HOXD4 (Homeo box D4);
HOXD8 (Homeo box D8); HOXD9 (Homeo box D9); IHH (Indian hedgehog (Drosophila)
homolog); INHBA (Inhibin, beta A (activin A, activin AB alpha polypeptide));
INHBB (Inhibin, beta B (activin AB beta polypeptide)); ISL1 (ISL1 transcription
factor, LIM/homeodomain, (islet-1)); JAG1 (Jagged1 (Alagille syndrome)); JAG2
(Jagged 2); LEF1 (Lymphoid enhancer-binding factor 1); LHX1 (LIM homeobox
protein 1); LHX2 (LIM HOX gene 2); LHX3 (LIM/homeodomain protein LHX3); LMX1A
(LIM homeobox transcription factor 1, alpha); LMX1B (LIM homeobox transcription
factor 1, beta); MADH1 (MAD (mothers against decapentaplegic, Drosophila)
homolog 1); MADH2 (MAD (mothers against decapentaplegic, Drosophila) homolog
2); MADH3 (MAD (mothers against decapentaplegic, Drosophila) homolog 3); MADH4
(MAD (mothers against decapentaplegic, Drosophila) homolog 4); MADH5 (MAD
(mothers against decapentaplegic, Drosophila) homolog 5); MADH6 (MAD (mothers
against decapentaplegic, Drosophila) homolog 6); MADH7 (MAD (mothers against
decapentaplegic, Drosophila) homolog 7); MADH9 (MAD (mothers against
decapentaplegic, Drosophila) homolog 9); MEIS1 (Meis1 (mouse) homolog); MEIS2
(Meis (mouse) homolog 2); MEIS3 (Meis (mouse) homolog 3); MEKK5 (MAP/ERK kinase
kinase 5); MLLT1 (Myeloid/lymphoid or mixed-lineage leukemia (trithorax
(Drosophila) homolog); translocated to, 1); MSX1 (Msh (Drosophila) homeo box
homolog 1 (formerly homeo box 7)); MSX2 (Msh (Drosophila) homeo box homolog 2);
NOG (Noggin); ORW2 (Osler-Rendu-Weber syndrome 2); PAX1 (Paired box gene 1);
PAX1 (Paired box gene 1); PAX2 (Paired box gene 2); PAX3 (Paired box gene 3
(Waardenburg syndrome 1)); PAX4 (Paired box gene 4); PAX5 (Paired box gene 5
(B-cell lineage specific activator protein)); PAX6 (Paired box gene 6
(aniridia, keratitis)); PAX7 (Paired box gene 7); PAX8 (Paired box gene 8);
PAX9 (Paired box gene 9); PBX1 (Pre-B-cell leukemia transcription factor 1);
PBX2 (Pre-B-cell leukemia transcription factor 2); PBX3 (Pre-B-cell leukemia
transcription factor 3); PITX2 (Paired-like homeodomain transcription factor
2); PKHD1 (Polycystic kidney and hepatic disease 1 (autosomal recessive));
PROP1 (Prophet of Pit1, paired-like homeodomain transcription factor); PTCH
(Patched (Drosophila) homolog); PTCH2 (Patched (Drosophila) homolog 2); RARA
(Retinoic acid receptor, alpha); RARB (Retinoic acid receptor, beta); RARG
(Retinoic acid receptor, gamma); RET (Ret proto-oncogene (multiple endocrine
neoplasia MEN2A, MEN2B and medullary thyroid carcinoma 1, Hirschsprung
disease)); RIEG2 (Rieger syndrome 2); RXRA (Retinoid X receptor, alpha); RXRB
(Retinoid X receptor, beta); RXRG (Retinoid X receptor, gamma); SFRP1 (Secreted
frizzled-related protein 1); SFRP2 (Secreted frizzled-related protein 2); SFRP4
(Secreted frizzled-related protein 4); SFRP5 (Secreted frizzled-related protein
5); SHH (Sonic hedgehog (Drosophila) homolog); SMARCA2 (SWI/SNF related, matrix
associated, actin dependent regulator of chromatin, subfamily a, member 2);
SMARCA4 (SWI/SNF related, matrix associated, actin dependent regulator of
chromatin, subfamily a, member 4); SMARCB1 (SWI/SNF related, matrix associated,
actin dependent regulator of chromatin, subfamily b, member 1); SMARCC1
(SWI/SNF related, matrix associated, actin dependent regulator of chromatin,
subfamily c, member 1); SMARCC2 (SWI/SNF related, matrix associated, actin
dependent regulator of chromatin, subfamily c, member 2); SMARCD1 (SWI/SNF related,
matrix associated, actin dependent regulator of chromatin, subfamily d, member
1); SMARCD2 (SWI/SNF related, matrix associated, actin dependent regulator of
chromatin, subfamily d, member 2); SMARCD3 (SWI/SNF related, matrix associated,
actin dependent regulator of chromatin, subfamily d, member 3); SMARCE1
(SWI/SNF related, matrix associated, actin dependent regulator of chromatin,
subfamily e, member 1); SMOH (Smoothened (Drosophila) homolog); SOX1 (SRY (sex
determining region Y)-box 1); SOX10 (SRY (sex-determining region Y)-box 10);
SOX2 (SRY (sex determining region Y)-box 2); SOX9 (SRY (sex-determining region
Y)-box 9 (campomelic dysplasia, autosomal sex-reversal)); SRF (Serum response
factor (c-fos serum response element-binding transcription factor)); STAT3
(Signal transducer and activator of transcription 3 (acute-phase response
factor)); T (T brachyury (mouse) homolog); TBX1 (T-box 1); TBX10 (T-box 10);
TBX10 (T-box 10); TBX15 (T-box 15); TBX18 (T-box 18); TBX19 (T-box 19); TBX2
(T-box 2); TBX3 (T-box 3 (ulnar mammary syndrome)); TBX4 (T-box 4); TBX5 (T-box
5); TBX6 (T-box 6); TBX7 (T-box 7); TFAP2A (Transcription factor AP-2 alpha
(activating enhancer-binding protein 2 alpha)); TFAP2B (Transcription factor
AP-2 beta (activating enhancer-binding protein 2 beta)); TFCOUP2 (Transcription
factor COUP 2 (chicken ovalbumin upstream promoter 2, apolipoprotein regulatory
protein)); TGFBR1 (Transforming growth factor, beta receptor I (activin A
receptor type II-like kinase, 53kD)); TWIST (Twist (Drosophila) homolog); WNT1
(Wingless-type MMTV integration site family, member 1); WNT10B (Wingless-type
MMTV integration site family, member 10B); WNT11 (Wingless-type MMTV
integration site family, member 11); WNT14 (Wingless-type MMTV integration site
family, member 14); WNT15 (Wingless-type MMTV integration site family, member
15); WNT2 (Wingless-type MMTV integration site family member 2); WNT2B
(Wingless-type MMTV integration site family, member 2B); WNT3 (Wingless-type
MMTV integration site family, member 3); WNT5A (Wingless-type MMTV integration
site family, member 5A); WNT6 (Wingless-type MMTV integration site family,
member 6); WNT7A (Wingless-type MMTV integration site family, member 7A); WNT7B
(Wingless-type MMTV integration site family, member 7B); WNT8A (Wingless-type
MMTV integration site family, member 8A); WNT8B (Wingless-type MMTV integration
site family, member 8B); ZIC3 (Zic family member 3 (odd-paired Drosophila
homolog, heterotaxy 1)); and ZIC3 (Zic family member 3 (odd-paired Drosophila
homolog, heterotaxy 1)).
【０１１２】
ＤＮＡアダクト
DFFA (DNA fragmentation factor, 45 kD, alpha subunit); DNMT1 (DNA
(cytosine-5-)-methyltransferase 1); DNMT2 (DNA (cytosine-5-)-methyltransferase
2); IGHMBP2 (Immunoglobulin mu binding protein 2); LIG1 (Ligase I, DNA, ATP-dependent);
LIG3 (Ligase III, DNA, ATP-dependent); LIG4 (Ligase IV, DNA, ATP-dependent);
MGMT (O-6-methylguanine-DNA methyltransferase); NTHL1 (Nth (E.coli endonuclease
III)-like 1); PRIM1 (Primase, polypeptide 1 (49kD)); RAG1 (Recombination
activating gene 1); RFC3 (Replication factor C (activator 1) 3 (38kD)); RFC4
(Replication factor C (activator 1) 4 (37kD)); TERT (Telomerase reverse
transcriptase); TOP1 (Topoisomerase (DNA) I); TOP2A (Topoisomerase (DNA) II
alpha (170kD)); TOP2B (Topoisomerase (DNA) II beta (180kD)); TOP3
(Topoisomerase (DNA) III); and TOP3B (Topoisomerase (DNA) III beta).
【０１１３】
ＤＮＡ損傷
ADPRT (ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase));
APEX (APEX nuclease (multifunctional DNA repair enzyme)); ATM (Ataxia telangiectasia
mutated (includes complementation groups A, C and D)); BLM (Bloom syndrome);
BRCA1 (Breast cancer 1, early onset); BRCA2 (Breast cancer 2, early onset);
CKN1 (Cockayne syndrome 1 (classical)); DDB1 (Damage-specific DNA binding
protein 1 (127kD)); DDB2 (Damage-specific DNA binding protein 2 (48kD)); DDIT1
(DNA-damage-inducible transcript 1); DDIT1L (DNA-damage-inducible transcript
1-like); DDIT3 (DNA-damage-inducible transcript 3); DFFA (DNA fragmentation
factor, 45 kD, alpha subunit); DNMT1 (DNA (cytosine-5-)-methyltransferase 1);
DNMT2 (DNA (cytosine-5-)-methyltransferase 2); ERCC1 (Excision repair
cross-complementing rodent repair deficiency, complementation group 1 (includes
overlapping antisense sequence)); ERCC2 (Excision repair cross-complementing
rodent repair deficiency, complementation group 2 (xeroderma pigmentosum D));
ERCC3 (Excision repair cross-complementing rodent repair deficiency,
complementation group 3 (xeroderma pigmentosum group B complementing)); ERCC5
(Excision repair cross-complementing rodent repair deficiency, complementation
group 5 (xeroderma pigmentosum, complementation group G (Cockayne syndrome)));
ERCC6 (Excision repair cross-complementing rodent repair deficiency,
complementation group 6); FANCA (Fanconi anemia, complementation group A);
FANCB (Fanconi anemia, complementation group B); FANCC (Fanconi anemia,
complementation group C); FANCG (Fanconi anemia, complementation group G);
G22P1 (Thyroid autoantigen 70kD (Ku antigen)); GTBP (G/T mismatch-binding
protein); IGHMBP2 (Immunoglobulin mu binding protein 2); INPPL1 (Inositol
polyphosphate phosphatase-like 1); LIG1 (Ligase I, DNA, ATP-dependent); LIG3
(Ligase III, DNA, ATP-dependent); LIG3 (Ligase III, DNA, ATP-dependent); LIG4
(Ligase IV, DNA, ATP-dependent); MGMT (O-6-methylguanine-DNA
methyltransferase); MLH1 (MutL (E. coli) homolog 1 (colon cancer, nonpolyposis
type 2)); MPG (N-methylpurine-DNA glycosylase); MSH2 (MutS (E. coli) homolog 2
(colon cancer, nonpolyposis type 1)); MSH3 (MutS (E. coli) homolog 3); MSH4
(MutS (E. coli) homolog 4); MSH5 (MutS (E. coli) homolog 5); MTH1 (MutT (E.
coli) human homolog (8-oxo-7,8-dihydroguanosine triphosphatase)); NTHL1 (Nth
(E.coli endonuclease III)-like 1); PMS1 (Postmeiotic segregation increased (S.
cerevisiae) 1); PMS2 (Postmeiotic segregation increased (S. cerevisiae) 2);
PMS2L1 (Postmeiotic segregation increased 2-like 1); PMS2L11 (Postmeiotic
segregation increased 2-like 11); PMS2L12 (Postmeiotic segregation increased
2-like 12); PMS2L2 (Postmeiotic segregation increased 2-like 2); PMS2L3
(Postmeiotic segregation increased 2-like 3); PMS2L4 (Postmeiotic segregation
increased 2-like 4); PMS2L5 (Postmeiotic segregation increased 2-like 5);
PMS2L6 (Postmeiotic segregation increased 2-like 6); PMS2L8 (Postmeiotic
segregation increased 2-like 8); PMS2L9 (Postmeiotic segregation increased
2-like 9); POLB (Polymerase (DNA directed), beta); PRIM1 (Primase, polypeptide
1 (49kD)); PRKDC (Protein kinase, DNA-activated, catalytic polypeptide); RAD1
(RAD1 (S. pombe) homolog); RAD17 (RAD17 (S. pombe) homolog); RAD21 (RAD21 (S.
pombe) homolog); RAD23A (RAD23 (S. cerevisiae) homolog A); RAD23B (RAD23 (S.
cerevisiae) homolog B); RAD51 (RAD51 (S. cerevisiae) homolog (E coli RecA
homolog)); RAD51C (RAD51 (S. cerevisiae) homolog C); RAD51L1 (RAD51 (S.
cerevisiae)-like 1); RAD51L3 (RAD51 (S. cerevisiae)-like 3); RAD52 (RAD52 (S.
cerevisiae) homolog); RAD54L (RAD54 (S.cerevisiae)-like); RAG1 (Recombination
activating gene 1); RFC3 (Replication factor C (activator 1) 3 (38kD)); RFC4
(Replication factor C (activator 1) 4 (37kD)); TDG (Thymine-DNA glycosylase);
TERT (Telomerase reverse transcriptase); TOP1 (Topoisomerase (DNA) I); TOP2A
(Topoisomerase (DNA) II alpha (170kD)); TOP2B (Topoisomerase (DNA) II beta
(180kD)); TOP3 (Topoisomerase (DNA) III); TOP3B (Topoisomerase (DNA) III beta);
TP53 (Tumor protein p53 (Li-Fraumeni syndrome)); TRLP1 (TRNA leucine (AAG)
pseudogene 1); UNG (Uracil-DNA glycosylase); WRN (Werner syndrome); XPA
(Xeroderma pigmentosum, complementation group A); XPC (Xeroderma pigmentosum,
complementation group C); XRCC1 (X-ray repair complementing defective repair in
Chinese hamster cells 1); XRCC2 (X-ray repair complementing defective repair in
Chinese hamster cells 2); XRCC3 (X-ray repair complementing defective repair in
Chinese hamster cells 3); XRCC4 (X-ray repair complementing defective repair in
Chinese hamster cells 4); XRCC5 (X-ray repair complementing defective repair in
Chinese hamster cells 5 (double-strand-break rejoining; Ku autoantigen, 80kD));
and XRCC8 (X-ray repair complementing defective repair in Chinese hamster cells
8).
【０１１４】
ＤＮＡ複製
ADAR (Adenosine deaminase, RNA-specific); ADPRT
(ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)); ATM (Ataxia
telangiectasia mutated (includes complementation groups A, C and D)); ATR
(Ataxia telangiectasia and Rad3 related); ATRX (Alpha thalassemia/mental
retardation syndrome X-linked); BLM (Bloom syndrome); CENPB (Centromere protein
B (80kD)); CENPC1 (Centromere protein C 1); CHD4 (Chromodomain helicase DNA
binding protein 4); CHDL (Chromodomain-helicase-DNA-binding protein); CKN1
(Cockayne syndrome 1 (classical)); DNA2L (DNA2 (DNA replication helicase,
yeast, homolog)-like); DNASE1 (Deoxyribonuclease I); DNASE1L1
(Deoxyribonuclease I-like 1); DNASE1L2 (Deoxyribonuclease I-like 2); ERCC1
(Excision repair cross-complementing rodent repair deficiency, complementation
group 1 (includes overlapping antisense sequence)); ERCC2 (Excision repair
cross-complementing rodent repair deficiency, complementation group 2 (xeroderma
pigmentosum D)); ERCC3 (Excision repair cross-complementing rodent repair
deficiency, complementation group 3 (xeroderma pigmentosum group B
complementing)); ERCC4 (Excision repair cross-complementing rodent repair
deficiency, complementation group 4); ERCC5 (Excision repair
cross-complementing rodent repair deficiency, complementation group 5
(xeroderma pigmentosum, complementation group G (Cockayne syndrome))); ERCC6
(Excision repair cross-complementing rodent repair deficiency, complementation
group 6); EXO1 (Exonuclease 1); FEN1 (Flap structure-specific endonuclease 1);
G22P1 (Thyroid autoantigen 70kD (Ku antigen)); HMGIY (High-mobility group
(nonhistone chromosomal) protein isoforms I and Y); HUS1 (HUS1 (S. pombe)
checkpoint homolog); LIG2 (Ligase II, DNA, ATP-dependent); MLH1 (MutL (E. coli)
homolog 1 (colon cancer, nonpolyposis type 2)); MSH5 (MutS (E. coli) homolog
5); POLA (Polymerase (DNA directed), alpha); POLB (Polymerase (DNA directed),
beta); POLD1 (Polymerase (DNA directed), delta 1, catalytic subunit (125kD));
RAD1 (RAD1 (S. pombe) homolog); RAD50 (RAD50 (S. cerevisiae) homolog); RAD51
(RAD51 (S. cerevisiae) homolog (E coli RecA homolog)); RAD51C (RAD51 (S.
cerevisiae) homolog C); RAD52 (RAD52 (S. cerevisiae) homolog); RPA1
(Replication protein A1 (70kD)); RPA2 (Replication protein A2 (32kD)); RPA3
(Replication protein A3 (14kD)); RPA40 (RNA polymerase I subunit); SNRPA (Small
nuclear ribonucleoprotein polypeptide A); SNRPA1 (Small nuclear
ribonucleoprotein polypeptide A'); TOP1 (Topoisomerase (DNA) I); TOP2A
(Topoisomerase (DNA) II alpha (170kD)); TOP3 (Topoisomerase (DNA) III); TOP3B
(Topoisomerase (DNA) III beta); TR4 (TR4 nuclear hormone receptor); WRN (Werner
syndrome); XPA (Xeroderma pigmentosum, complementation group A); XRCC1 (X-ray
repair complementing defective repair in Chinese hamster cells 1); XRCC2 (X-ray
repair complementing defective repair in Chinese hamster cells 2); XRCC3 (X-ray
repair complementing defective repair in Chinese hamster cells 3); XRCC4 (X-ray
repair complementing defective repair in Chinese hamster cells 4); and XRCC5
(X-ray repair complementing defective repair in Chinese hamster cells 5
(double-strand-break rejoining; Ku autoantigen, 80kD)).
【０１１５】
遺伝子制御
ADA (Adenosine deaminase); ADPRT (ADP-ribosyltransferase (NAD+; poly
(ADP-ribose) polymerase)); ADSS (Adenylosuccinate synthase); AHR (Aryl
hydrocarbon receptor); ATBF1 (AT-binding transcription factor 1); ATF3
(Activating transcription factor 3); BARD1 (BRCA1 associated RING domain 1);
CBF2 (CCAAT-box-binding transcription factor); CBFA2 (Core-binding factor, runt
domain, alpha subunit 2 (acute myeloid leukemia 1; aml1 oncogene)); CBFA3
(Core-binding factor, runt domain, alpha subunit 3); CBFB (Core-binding factor,
beta subunit); CEBPA (CCAAT/enhancer binding protein (C/EBP), alpha); CEBPB
(CCAAT/enhancer binding protein (C/EBP), beta); CEBPD (CCAAT/enhancer binding
protein (C/EBP), delta); CEBPE (CCAAT/enhancer binding protein (C/EBP),
epsilon); CEBPG (CCAAT/enhancer binding protein (C/EBP), gamma); CENPE (Centromere
protein E (312kD)); CHD1 (Chromodomain helicase DNA binding protein 1); CHD2
(Chromodomain helicase DNA binding protein 2); CHD3 (Chromodomain helicase DNA
binding protein 3); CHDL (Chromodomain-helicase-DNA-binding protein); CREB2
(CAMP responsive element binding protein 2); CREBBP (CREB binding protein
(Rubinstein-Taybi syndrome)); CSE1L (Chromosome segregation 1 (yeast
homolog)-like); CSTF3 (Cleavage stimulation factor, 3' pre-RNA, subunit 3,
77kD); CTPS (CTP synthase); DCK (Deoxycytidine kinase); DCTD (DCMP deaminase);
DGUOK (Deoxyguanosine kinase); DNASE1 (Deoxyribonuclease I); DNASE1L3
(Deoxyribonuclease I-like 3); DUT (DUTP pyrophosphatase); DXS423E (Segregation
of mitotic chromosomes 1 (SMC1, yeast human homolog of;); E2F2 (E2F
transcription factor 2); E2F5 (E2F transcription factor 5, p130-binding);
EEF1A1 (Eukaryotic translation elongation factor 1 alpha 1); EEF2 (Eukaryotic
translation elongation factor 2); EGR1 (Early growth response 1); EIF2B1
(Eukaryotic translation initiation factor 2B, subunit 1 (alpha, 26kD)); EIF3S6
(Eukaryotic translation initiation factor 3, subunit 6 (48kD)); EIF4E
(Eukaryotic translation initiation factor 4E); EIF4G2 (Eukaryotic translation
initiation factor 4 gamma, 2); ELF1 (E74-like factor 1 (ets domain transcription
factor)); ELF3 (E74-like factor 3 (ets domain transcription factor)); ELK4
(ELK4, ETS-domain protein (SRF accessory protein 1) NOTE: Symbol and name
provisional); EP300 (E1A binding protein p300); ESR1 (Estrogen receptor 1);
ETV3 (Ets variant gene 3); ETV4 (Ets variant gene 4 (E1A enhancer-binding
protein, E1AF)); ETV5 (Ets variant gene 5 (ets-related molecule)); FKHR
(Forkhead (Drosophila) homolog 1 (rhabdomyosarcoma)); FLI1 (Friend leukemia
virus integration 1); GART (Phosphoribosylglycinamide formyltransferase,
phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase);
GATA1 (GATA-binding protein 1 (globin transcription factor 1)); GATA2
(GATA-binding protein 2); GATA3 (GATA-binding protein 3); GATA4 (GATA-binding
protein 4); GLI (Glioma-associated oncogene homolog (zinc finger protein));
GRSF1 (G-rich RNA sequence binding factor 1); H4FI (H4 histone family, member
I); HIF1A (Hypoxia-inducible factor 1, alpha subunit (basic helix-loop-helix
transcription factor)); HIVEP1 (Human immunodeficiency virus type I
enhancer-binding protein 1); HLF (Hepatic leukemia factor); HMG17
(High-mobility group (nonhistone chromosomal) protein 17); HMG2 (High-mobility
group (nonhistone chromosomal) protein 2); HNRPK (Heterogeneous nuclear
ribonucleoprotein K); ICSBP1 (Interferon consensus sequence binding protein 1);
ID1 (Inhibitor of DNA binding 1, dominant negative helix-loop-helix protein);
ID2 (Inhibitor of DNA binding 2, dominant negative helix-loop-helix protein);
ID3 (Inhibitor of DNA binding 3, dominant negative helix-loop-helix protein);
ID4 (Inhibitor of DNA binding 4, dominant negative helix-loop-helix protein);
IRF1 (Interferon regulatory factor 1); IRF2 (Interferon regulatory factor 2);
IRF4 (Interferon regulatory factor 4); IRF5 (Interferon regulatory factor 5);
IRF7 (Interferon regulatory factor 7); JUN (V-jun avian sarcoma virus 17
oncogene homolog); JUND (Jun D proto-oncogene); LAF4 (Lymphoid nuclear protein
related to AF4); LYL1 (Lymphoblastic leukemia derived sequence 1); MAFG (V-maf musculoaponeurotic
fibrosarcoma (avian) oncogene family, protein G); MAX (MAX protein); MDM2
(Mouse double minute 2, human homolog of; p53-binding protein); MHC2TA (MHC
class II transactivator); MKI67 (Antigen identified by monoclonal antibody
Ki-67); MNDA (Myeloid cell nuclear differentiation antigen); MSX1 (Msh
(Drosophila) homeo box homolog 1 (formerly homeo box 7)); MTHFD
(5,10-methylenetetrahydrofolate dehydrogenase, 5,10-methylenetetrahydrofolate
cyclohydrolase, 10-formyltetrahydrofolate synthetase); MYC (V-myc avian
myelocytomatosis viral oncogene homolog); NCBP (Nuclear cap binding protein,
80kD); NCBP (Nuclear cap binding protein, 80kD); NDP52 (Nuclear domain 10
protein); NFE2 (Nuclear factor (erythroid-derived 2), 45kD); NFKB1 (Nuclear
factor of kappa light polypeptide gene enhancer in B-cells 1 (p105)); NFKB2
(Nuclear factor of kappa light polypeptide gene enhancer in B-cells 2
(p49/p100)); NFYA (Nuclear transcription factor Y, alpha); NP (Nucleoside
phosphorylase); NUMA1 (Nuclear mitotic apparatus protein 1); ODC1 (Ornithine
decarboxylase 1); PAX3 (Paired box gene 3 (Waardenburg syndrome 1)); PBX1
(Pre-B-cell leukemia transcription factor 1); PBX3 (Pre-B-cell leukemia
transcription factor 3); PCNA (Proliferating cell nuclear antigen); PEX6 (Peroxisomal
biogenesis factor 6); PML (Promyelocytic leukemia); POU2AF1 (POU domain, class
2, associating factor 1); POU2F1 (POU domain, class 2, transcription factor 1);
POU2F2 (POU domain, class 2, transcription factor 2); PPAT (Phosphoribosyl
pyrophosphate amidotransferase); PRPS1 (Phosphoribosyl pyrophosphate synthetase
1); PTB (Polypyrimidine tract binding protein (heterogeneous nuclear
ribonucleoprotein I)); RANBP2 (RAN binding protein 2); RARB (Retinoic acid
receptor, beta); RARG (Retinoic acid receptor, gamma); RECQL (RecQ protein-like
(DNA helicase Q1-like)); RENBP (Renin-binding protein); RPL27 (Ribosomal
protein L27); RPL32 (Ribosomal protein L32); RPL5 (Ribosomal protein L5); RPS16
(Ribosomal protein S16); RPS21 (Ribosomal protein S21); RPS5 (Ribosomal protein
S5); RPS9 (Ribosomal protein S9); RXRA (Retinoid X receptor, alpha); SATB1
(Special AT-rich sequence binding protein 1 (binds to nuclear
matrix/scaffold-associating DNA's)); SFRS7 (Splicing factor,
arginine/serine-rich 7 (35kD)); SKIL (SKI-like); SMARCA2 (SWI/SNF related,
matrix associated, actin dependent regulator of chromatin, subfamily a, member
2); SOX4 (SRY (sex determining region Y)-box 4); SP100 (Nuclear antigen Sp100);
SPIB (Spi-B transcription factor (Spi-1/PU.1 related)); SRF (Serum response
factor (c-fos serum response element-binding transcription factor)); STAT3
(Signal transducer and activator of transcription 3 (acute-phase response
factor)); STAT4 (Signal transducer and activator of transcription 4); STAT5A
(Signal transducer and activator of transcription 5A); TAF2C2 (TATA box binding
protein (TBP)-associated factor, RNA polymerase II, C2, 105kD); TAL2 (T-cell
acute lymphocytic leukemia 2); TCEB1L (Transcription elongation factor B
(SIII), polypeptide 1-like); TCF12 (Transcription factor 12 (HTF4,
helix-loop-helix transcription factors 4)); TCF3 (Transcription factor 3 (E2A
immunoglobulin enhancer binding factors E12/E47)); TCF7 (Transcription factor 7
(T-cell specific, HMG-box)); TFAP2B (Transcription factor AP-2 beta (activating
enhancer-binding protein 2 beta)); TFAP4 (Transcription factor AP-4 (activating
enhancer-binding protein 4)); TFDP2 (Transcription factor Dp-2 (E2F
dimerization partner 2)); THRA (Thyroid hormone receptor, alpha (avian
erythroblastic leukemia viral (v-erb-a) oncogene homolog)); TIAL1 (TIA1
cytotoxic granule-associated RNA-binding protein-like 1); TK1 (Thymidine kinase
1, soluble); TOP1 (Topoisomerase (DNA) I); TOP2B (Topoisomerase (DNA) II beta
(180kD)); TP53 (Tumor protein p53 (Li-Fraumeni syndrome)); UBL1 (Ubiquitin-like
1 (sentrin)); WT1 (Wilms tumor 1); XPO1 (Exportin 1 (CRM1, yeast, homolog));
ZFP36 (Zinc finger protein homologous to Zfp-36 in mouse); ZNF173 (Zinc finger
protein 173); ZNF200 (Zinc finger protein 200); ZNF42 (Zinc finger protein 42
(myeloid-specific retinoic acid- responsive));
【０１１６】
免疫
A1BG (Alpha-1-B glycoprotein); A2M (Alpha-2-macroglobulin); AAA
(Achalasia-addisonianism-alacrimia syndrome (Allgrove syndrome); AABT
(Beta-amino acids, renal transport of); AACT (Alpha-1-antichymotrypsin); AARS
(Alanyl-tRNA synthetase); ABAT (4-aminobutyrate aminotransferase); ABC7
(ATP-binding cassette 7); ABO (ABO blood group (transferase A, alpha);
1-3-N-acetylgalactosaminyltransferase; transferase B, alpha
1-3-galactosyltransferase);ACADL (Acyl-Coenzyme A dehydrogenase, long chain);
ACADM (Acyl-Coenzyme A dehydrogenase, C-4 to C-12 straight chain); ACADS
(Acyl-Coenzyme A dehydrogenase, C-2 to C-3 short chain); ACAT2 (Acetyl-Coenzyme
A acetyltransferase 2 (acetoacetyl Coenzyme A thiolase)); ACHE (Acetylcholinesterase
(YT blood group)); ACLS (Acrocallosal syndrome); ACO1 (Aconitase 1, soluble);
ACO2 (Aconitase 2, mitochondrial); ACP1 (Acid phosphatase 1, soluble); ACP5
(Acid phosphatase 5, tartrate resistant); ACTC (Actin, alpha, cardiac muscle);
ACTG2 (Actin, gamma 2, smooth muscle, enteric); ACTN2 (Actinin, alpha 2); ACUG
(Arthrocutaneouveal granulomatosis (Blau syndrome)); ACY1 (Aminoacylase 1); ADA
(Adenosine deaminase); ADAM10 (A disintegrin and metalloprotease domain 10);
ADAM8 (A disintegrin and metalloprotease domain 8); ADCYAP1 (Adenylate cyclase
activating polypeptide 1 (pituitary)); ADD1 (Adducin 1 (alpha)); ADH1 (Alcohol
dehydrogenase 1 (class I), alpha polypeptide); ADH2 (Alcohol dehydrogenase 2
(class I), beta polypeptide); ADH3 (Alcohol dehydrogenase 3 (class I), gamma
polypeptide); ADH4 (Alcohol dehydrogenase 4 (class II), pi polypeptide); ADH5
(Alcohol dehydrogenase 5 (class III), chi polypeptide); ADH5 (Alcohol
dehydrogenase 5 (class III), chi polypeptide); ADK (Adenosine kinase); ADORA1
(Adenosine A1 receptor); ADORA2A (Adenosine A2a receptor); ADORA2A (Adenosine
A2a receptor); ADPRT (ADP-ribosyltransferase (NAD+; poly (ADP-ribose)
polymerase)); ADRA2A (Adrenergic, alpha-2A-, receptor); ADRA2B (Adrenergic,
alpha-2B-, receptor); ADRA2C (Adrenergic, alpha-2C-, receptor); ADRB1
(Adrenergic, beta-1-, receptor); ADRB2 (Adrenergic, beta-2-, receptor,
surface); ADRB3 (Adrenergic, beta-3-, receptor); ADSS (Adenylosuccinate
synthase); AFP (Alpha-fetoprotein); AGA (Aspartylglucosaminidase); AGMX2 (Agammaglobulinemia,
X-linked 2 (with growth hormone deficiency)); AGT (Angiotensinogen); AGTR1
(Angiotensin receptor 1); AGTR2 (Angiotensin receptor 2); AGXT
(Alanine-glyoxylate aminotransferase (oxalosis I; hyperoxaluria I;
glycolicaciduria; serine-pyruvate aminotransferase)); AHCY
(S-adenosylhomocysteine hydrolase); AHR (Aryl hydrocarbon receptor); AHSG
(Alpha-2-HS-glycoprotein); AIH2 (Amelogenesis imperfecta 2, hypocalcification
(autosomal dominant)); AIRE (Autoimmune regulator (automimmune) polyendocrinopathy
candidiasis ectodermal dystrophy)); AK1 (Adenylate kinase 1); AKT1 (V-akt
murine thymoma viral oncogene homolog 1); ALAD (Aminolevulinate, delta-,
dehydratase); ALAS2 (Aminolevulinate, delta-, synthase 2)
(sideroblastic/hypochromic anemia)); ALB (Albumin); ALD
(Adrenoleukodystrophy/adrenomyeloneuropathy); ALDH1 (Aldehyde dehydrogenase 1,
soluble); ALDH2 (Aldehyde dehydrogenase 2, mitochondrial); ALDH6 (Aldehyde
dehydrogenase 6); ALDH9 (Aldehyde dehydrogenase 9 (gamma-aminobutyraldehyde
dehydrogenase, E3 isozyme)); ALDOA (Aldolase A, fructose-bisphosphate); ALDOB
(Aldolase B, fructose-bisphosphate); ALOX12 (Arachidonate 12-lipoxygenase);
ALOX5 (Arachidonate 5-lipoxygenase); ALPL (Alkaline phosphatase,
liver/bone/kidney); ALPP (Alkaline phosphatase, placental (Regan isozyme));
ALPPL2 (Alkaline phosphatase, placental-like 2); AMBP
(Alpha-1-microglobulin/bikunin precursor); AMCN (Arthrogryposis multiplex
congenita, neurogenic); AMELX (Amelogenin (X chromosome, amelogenesis
imperfecta 1)); AMH (Anti-Mullerian hormone); AMPH (Amphiphysin (Stiff-Mann
syndrome with breast cancer 128kD autoantigen)); AMPHL (Amphiphysin-like);
AMY1A (Amylase, alpha 1A; salivary); AMY2A (Amylase, alpha 2A; pancreatic);
ANK1 (Ankyrin 1, erythrocytic); ANPEP (Alanyl (membrane) aminopeptidase
(aminopeptidase N, aminopeptidase M, microsomal aminopeptidase, CD13, p150));
ANX11 (Annexin XI (56kD autoantigen)); ANX3 (Annexin III (lipocortin III,
1,2-cyclic-inositol-phosphate phosphodiesterase, placental anticoagulant
protein III, calcimedin 35-alpha)); ANX4 (Annexin IV (placental anticoagulant
protein II)); ANX5 (Annexin V (endonexin II)); ANX8 (Annexin VIII); APAF1
(Apoptotic protease activating factor); APBA2 (Amyloid beta (A4) precursor
protein-binding, family A, member 2 (X11-like)); APBB1 (Amyloid beta (A4)
precursor protein-binding, family B, member 1 (Fe65)); APC (Adenomatosis
polyposis coli); APCS (Amyloid P component, serum); APEH
(N-acylaminoacyl-peptide hydrolase); API1 (Apoptosis inhibitor 1); API2
(Apoptosis inhibitor 2); API3 (Apoptosis inhibitor 3); API4 (Apoptosis
inhibitor 4 (survivin)); APOA1 (Apolipoprotein A-I); APOA2 (Apolipoprotein
A-II); APOA4 (Apolipoprotein A-IV); APOB (Apolipoprotein B (including Ag(x)
antigen)); APOC2 (Apolipoprotein C-II); APOC3 (Apolipoprotein C-III); APOD
(Apolipoprotein D); APOE (Apolipoprotein E); APOH (Apolipoprotein H
(beta-2-glycoprotein I)); APP (Amyloid beta (A4) precursor protein (protease
nexin-II, Alzheimer disease)); APRT (Adenine phosphoribosyltransferase); AQP1
(Aquaporin 1 (channel-forming integral protein, 28kD)); AQP2 (Aquaporin 2
(collecting duct)); AR (Androgen receptor (dihydrotestosterone receptor;
testicular feminization; spinal and bulbar muscular atrophy; Kennedy disease));
AREG (Amphiregulin (schwannoma-derived growth factor)); ARHE (Ras homolog gene
family, member E); ARHGAP1 (Rho GTPase activating protein 1); ARHGAP5 (Rho
GTPase activating protein 5); ARNT (Aryl hydrocarbon receptor nuclear
translocator); ARNTL (Aryl hydrocarbon receptor nuclear translocator-like);
ARSA (Arylsulfatase A); ART1 (ADP-ribosyltransferase 1); ARVD2 (Arrhythmogenic
right ventricular dysplasia 2); ASL (Argininosuccinate lyase); ASNS (Asparagine
synthetase); ASPH (Aspartate beta-hydroxylase); AT3 (Antithrombin III); ATCAY
(Ataxia, cerebellar, Cayman type); ATM (Ataxia telangiectasia mutated (includes
complementation) groups A, C and D)); ATOX1 (ATX1 (antioxidant protein 1,
yeast) homolog 1); ATP1A1 (ATPase, Na+/K+ transporting, alpha 1 polypeptide);
ATP2B2 (ATPase, Ca++ transporting, plasma membrane 2); ATP4B (ATPase, H+/K+
exchanging, beta polypeptide); ATP7B (ATPase, Cu++ transporting, beta
polypeptide (Wilson disease)); ATR (Ataxia telangiectasia and Rad3 related);
ATRN (Attractin (with dipeptidylpeptidase IV activity)); ATRX (Alpha
thalassemia/mental retardation syndrome X-linked); ATSV (Axonal transport of
synaptic vesicles); AUH (AU RNA-binding protein/enoyl-Coenzyme A hydratase);
AVP (Arginine vasopressin (neurophysin II, antidiuretic hormone, diabetes
insipidus, neurohypophyseal)); AVPR1A (Arginine vasopressin receptor 1A); AVPR2
(Arginine vasopressin receptor 2 (nephrogenic diabetes insipidus)); AXL (AXL
receptor tyrosine kinase); AZGP1 (Alpha-2-glycoprotein 1, zinc); AZU1
(Azurocidin 1 (cationic antimicrobial protein 37)); B120 (Brain protein 120);
B2M (Beta-2-microglobulin); BAG1 (BCL2-associated athanogene); BAK1
(BCL2-antagonist/killer 1); BAX (BCL2-associated X protein); BCHE
(Butyrylcholinesterase); BCKDHA (Branched chain keto acid dehydrogenase E1,
alpha polypeptide (maple syrup urine disease)); BCL1 (B-cell CLL/lymphoma 1);
BCL2 (B-cell CLL/lymphoma 2); BCL2A1 (BCL2-related protein A1); BCL2L1; BCL2L2
(BCL2-like 2); BCL7 (B-cell CLL/lymphoma 7); BCPM (Benign chronic pemphigus
(Hailey-Hailey disease)); BCPR (Breast cancer-related regulator of TP53); BCR
(Breakpoint cluster region); BDKRB1 (Bradykinin receptor B1); BDKRB2
(Bradykinin receptor B2); BENE (BENE protein); BF (B-factor, properdin); BGLAP
(Bone gamma-carboxyglutamate (gla) protein (osteocalcin)); BGP (Biliary
glycoprotein); BHR1 (Bronchial hyperresponsiveness-1 (bronchial asthma)); BID
(BH3 interacting domain death agonist); BLK (B lymphoid tyrosine kinase); BLM
(Bloom syndrome); BLMH (Bleomycin hydrolase); BMI1 (Murine leukemia viral
(bmi-1) oncogene homolog); BN51T (BN51 (BHK21) temperature sensitivity
complementing); BPAG1 (Bullous pemphigoid antigen 1 (230/240kD)); BPI
(Bactericidal/permeability-increasing protein); BRAF (V-raf murine sarcoma
viral oncogene homolog B1); BRAK (CXC chemokine in breast and kidney); BRCA1
(Breast cancer 1, early onset); BRCA2 (Breast cancer 2, early onset); BSEP
(Bile salt export pump (ABC member 16, MDR/TAP subfamily)); BST1 (Bone marrow
stromal cell antigen 1); BTD (Biotinidase); BTK (Bruton agammaglobulinemia
tyrosine kinase); BUB1 (Budding uninhibited by benzimidazoles 1 (yeast
homolog)); C1NH (Complement component 1 inhibitor (angioedema, hereditary));
C1QA (Complement component 1, q subcomponent, alpha polypeptide); C1QB
(Complement component 1, q subcomponent, beta Polypeptide ); C1QBP (Complement component
1, q subcomponent binding protein); C1QG (Complement component 1, q
subcomponent, gamma polypeptide); C1R (Complement component 1, r subcomponent);
C1S (Complement component 1, s subcomponent); C2 (Complement component 2); C3
(Complement component 3); C3AR1 (Complement component 3a receptor 1); C4A
(Complement component 4A); C4B (Complement component 4B); C4BPA (Complement
component 4-binding protein, alpha); C4BPAL2 (Complement component 4-binding
protein, alpha-like 2); C4BPB (Complement component 4-binding protein, beta);
C5 (Complement component 5); C5R1 (Complement component 5 receptor 1 (C5a
ligand)); C6 (Complement component 6); C7 (Complement component 7); C8A
(Complement component 8, alpha polypeptide); C8B (Complement component 8, beta polypeptide);
C8G (Complement component 8, gamma polypeptide); C9 (Complement component 9);
CA1 (Carbonic anhydrase I); CA2 (Carbonic anhydrase II); CACNA1S (Calcium
channel, voltage-dependent, L type, alpha 1S subunit); CACNB2 (Calcium channel,
voltage-dependent, beta 2 subunit); CALCA (Calcitonin/calcitonin-related
polypeptide, alpha); CALCR (Calcitonin receptor); CAMP (Cathelicidin
antimicrobial peptide); CAPG (Capping protein (actin filament), gelsolin-like);
CAPN3 (Calpain, large polypeptide L3); CASP1 (Caspase 1, apoptosis-related
cysteine protease (interleukin 1, beta, convertase)); CASP10 (Caspase 10,
apoptosis-related cysteine protease); CASP2 (Caspase 2, apoptosis-related
cysteine protease (neural precursor cell expressed, developmentally down-regulated
2)); CASP3 (Caspase 3, apoptosis-related cysteine protease); CASP4 (Caspase 4,
apoptosis-related cysteine protease); CASP5 (Caspase 5, apoptosis-related
cysteine protease); CASP6 (Caspase 6, apoptosis-related cysteine protease);
CASP7 (Caspase 7, apoptosis-related cysteine protease); CASP8 (Caspase 8,
apoptosis-related cysteine protease); CASP9 (Caspase 9, apoptosis-related
cysteine protease); CASR (Calcium-sensing receptor (hypocalciuric hypercalcemia
1, severe neonatal hyperparathyroidism)); CAT (Catalase); CAV3 (Caveolin 3);
CBBM (Blue-monochromatic colorblindness (blue cone monochromacy)); CBFA2
(Core-binding factor, runt domain, alpha subunit 2 (acute myeloid leukemia 1;
aml1 oncogene)); CBFA2T1 (Core-binding factor, runt domain, alpha subunit 2; translocated
to, 1; cyclin D-related); CBFA2T2 (Core-binding factor, runt domain, alpha
subunit 2; translocated to, 2); CBFA2T3 (Core-binding factor, runt domain,
alpha subunit 2; translocated to, 3); CBFB (Core-binding factor, beta subunit);
CBLN1 (Cerebellin 1 precursor); CBR1 (Carbonyl reductase 1); CBS
(Cystathionine-beta-synthase); CBX4 (Chromobox homolog 4 (Drosophila Pc
class)); CCAL1 (Chondrocalcinosis 1 (calcium pyrophosphate-deposition disease,
early onset osteoarthritis)); CCR1 (Chemokine (C-C motif) receptor 1); CCR1
(Chemokine (C-C motif) receptor 1); CCR2 (Chemokine (C-C motif) receptor 2);
CCR3 (Chemokine (C-C motif) receptor 3); CCR3 (Chemokine (C-C motif) receptor
3); CCR4 (Chemokine (C-C motif) receptor 4); CCR5 (Chemokine (C-C motif) receptor
5); CCR5 (Chemokine (C-C motif) receptor 5); CCR6 (Chemokine (C-C motif)
receptor 6); CCR7 (Chemokine (C-C motif) receptor 7); CCR7 (Chemokine (C-C
motif) receptor 7); CCR8 (Chemokine (C-C motif) receptor 8); CD14 (CD14
antigen); CD151 (CD151 antigen); CD19 (CD19 antigen); CD1A (CD1A antigen, a
polypeptide); CD1B (CD1B antigen, b polypeptide); CD2 (CD2 antigen (p50), sheep
red blood cell receptor); CD20 (CD20 antigen); CD22 (CD22 antigen); CD36 (CD36
antigen (collagen type I receptor, thrombospondin receptor)); CD36L1 (CD36
antigen (collagen type I receptor, thrombospondin receptor)-like 1); CD39 (CD39
antigen); CD3E (CD3E antigen, epsilon polypeptide (TiT3 complex)); CD3G (CD3G
antigen, gamma polypeptide (TiT3 complex)); CD3Z (CD3Z antigen, zeta polypeptide
(TiT3 complex)); CD4 (CD4 antigen (p55)); CD44 (CD44 antigen (homing function
and Indian blood group system)); CD47 (CD47 antigen (Rh-related antigen,
integrin-associated signal transducer)); CD5 (CD5 antigen (p56-62)); CD53 (CD53
antigen); CD58 (CD58 antigen, (lymphocyte function-associated antigen 3)); CD59
(CD59 antigen p18-20 (antigen identified by monoclonal antibodies 16.3A5, EJ16,
EJ30, EL32 and G344)); CD5L (CD5 antigen-like (scavenger receptor cysteine rich
family)); CD6 (CD6 antigen); CD63 (CD63 antigen (melanoma 1 antigen)); CD68
(CD68 antigen); CD69 (CD69 antigen (p60, early T-cell activation antigen)); CD7
(CD7 antigen (p41)); CD74 (CD74 antigen (invariant polypeptide of major
histocompatibility complex, class II antigen-associated)); CD79A (CD79A antigen
(immunoglobulin-associated alpha)); CD79B (CD79B antigen
(immunoglobulin-associated beta)); CD80 (CD80 antigen (CD28 antigen ligand 1,
B7-1 antigen)); CD81 (CD81 antigen (target of antiproliferative antibody 1));
CD86 (CD86 antigen (CD28 antigen ligand 2, B7-2 antigen)); CD8A (CD8 antigen,
alpha polypeptide (p32)); CDA (Cytidine deaminase); CDAN1 (Congenital
dyserythropoietic anemia, type I); CDAN2 (Congenital dyserythropoietic anemia,
type II); CDC2L1 (Cell division cycle 2-like 1 (PITSLRE proteins)); CDH12
(Cadherin 12 (N-cadherin 2)); CDK2 (Cyclin-dependent kinase 2); CDK4
(Cyclin-dependent kinase 4); CDKN1A (Cyclin-dependent kinase inhibitor 1A (p21,
Cip1)); CDKN1B (Cyclin-dependent kinase inhibitor 1B (p27, Kip1)); CDKN1C
(Cyclin-dependent kinase inhibitor 1C (p57, Kip2)); CDKN2A (Cyclin-dependent
kinase inhibitor 2A (melanoma, p16, inhibits CDK4)); CDKN2C (Cyclin-dependent
kinase inhibitor 2C (p18, inhibits CDK4)); CDR1 (Cerebellar
degeneration-related protein (34kD)); CDR2 (Cerebellar degeneration-related
protein (62kD)); CDSN (Corneodesmosin); CDW52 (CDW52 antigen (CAMPATH-1
antigen)); CEBPB (CCAAT/enhancer binding protein (C/EBP), beta); CEBPE
(CCAAT/enhancer binding protein (C/EBP), epsilon); CEL (Carboxyl ester lipase
(bile salt-stimulated lipase)); CELL (Carboxyl ester lipase-like (bile
salt-stimulated lipase-like)); CENPB (Centromere protein B (80kD)); CENPC1
(Centromere protein C 1); CES1 (Carboxylesterase 1 (monocyte/macrophage serine
esterase 1)); CETP (Cholesteryl ester transfer protein, plasma); CFTR (Cystic
fibrosis transmembrane conductance regulator); CGA (Glycoprotein hormones,
alpha polypeptide); CHC1 (Chromosome condensation 1); CHE2 (Cholinesterase
(serum) 2); CHGA (Chromogranin A (parathyroid secretory protein 1)); CHH (Cartilage-hair
hypoplasia); CHIT1 (Chitinase 1); CHM (Choroideremia (Rab escort protein 1));
CHML (Choroideremia-like (Rab escort protein 2)); CHRM4 (Cholinergic receptor,
muscarinic 4); CHRNA1 (Cholinergic receptor, nicotinic, alpha polypeptide 1
(muscle)); CHRNA7 (Cholinergic receptor, nicotinic, alpha polypeptide 7); CHS1
(Chediak-Higashi syndrome 1); CISH (Cytokine inducible SH2-containing protein);
CKB (Creatine kinase, brain); CKM (Creatine kinase, muscle); CKN1 (Cockayne
syndrome 1 (classical)); CLA1 (Cerebellar ataxia 1 (autosomal recessive));
CLCN1 (Chloride channel 1 , skeletal muscle); CLCN4 (Chloride channel 4);
CLCNKB (Chloride channel Kb); CLDN3 (Claudin 3); CLN3 (Ceroid-lipofuscinosis,
neuronal 3, juvenile (Batten, Spielmeyer-Vogt disease)); CLTA (Clathrin, light
polypeptide (Lca)); CLU (Clusterin (complement lysis inhibitor, SP-40,40,
sulfated glycoprotein 2, testosterone-repressed prostate message 2,
apolipoprotein J)); CMA1 (Chymase 1, mast cell); CMAR (Cell matrix adhesion
regulator); CMD1A (Cardiomyopathy, dilated 1A (autosomal dominant)); CMKBR9
(Chemokine (C-C motif) receptor 9); CMKBR9 (Chemokine (C-C motif) receptor 9);
CMKLR1 (Chemokine-like receptor 1); CNC (Carney complex, multiple neoplasia and
lentiginosis); CNGA1 (Cyclic nucleotide gated channel alpha 1); CNK
(Cytokine-inducible kinase); CNP (2',3'-cyclic nucleotide 3'
phosphodiesterase); CNTF (Ciliary neurotrophic factor); CNTFR (Ciliary
neurotrophic factor receptor); COIL (Coilin p80); COL11A2 (Collagen, type XI,
alpha 2); COL17A1 (Collagen, type XVII, alpha 1); COL1A1 (Collagen, type I,
alpha 1); COL1A2 (Collagen, type I, alpha 2); COL2A1 (Collagen, type II, alpha
1 (primary osteoarthritis, spondyloepiphyseal dysplasia, congenital)); COL3A1
(Collagen, type III, alpha 1 (Ehlers-Danlos syndrome type IV, autosomal
dominant)); COL4A1 (Collagen, type IV, alpha 1); COL4A3 (Collagen, type IV,
alpha 3 (Goodpasture antigen)); COL5A1 (Collagen, type V, alpha 1); COL7A1
(Collagen, type VII, alpha 1 (epidermolysis bullosa, dystrophic, dominant and
recessive)); COL9A2 (Collagen, type IX, alpha 2); COMT
(Catechol-O-methyltransferase); COX4 (Cytochrome c oxidase subunit IV); CP
(Ceruloplasmin (ferroxidase)); CP20 (Lymphocyte cytosolic protein, molecular
weight 20kD); CPE (Carboxypeptidase E); CPM (Carboxypeptidase M); CPO
(Coproporphyrinogen oxidase (coproporphyria, harderoporphyria)); CPS1
(Carbamoyl-phosphate synthetase 1, mitochondrial); CR1 (Complement component
(3b/4b) receptor 1, including Knops blood group system); CR1L (Complement
component (3b/4b) receptor 1-like); CR2 (Complement component (3d/Epstein Barr
virus) receptor 2); CREB1 (CAMP responsive element binding protein 1); CREBL1
(CAMP responsive element binding protein-like 1); CREM (CAMP responsive element
modulator); CRP (C-reactive protein, pentraxin-related); CRS1C
(Cryptidin-related sequence-1C); CRX (Cone-rod homeobox); CRYAB (Crystallin,
alpha B); CSBP1 (Cytokine suppressive anti-inflammatory drug binding protein 1
(p38 MAP kinase)); CSE1L (Chromosome segregation 1 (yeast homolog)-like); CSF1
(Colony stimulating factor 1 (macrophage)); CSF1 (Colony stimulating factor 1
(macrophage)); CSF1R (Colony stimulating factor 1 receptor, formerly McDonough
feline sarcoma viral (v-fms) oncogene homolog); CSF2 (Colony stimulating factor
2 (granulocyte-macrophage)); CSF2RA (Colony stimulating factor 2 receptor,
alpha, low-affinity (granulocyte-macrophage)); CSF2RB (Colony stimulating
factor 2 receptor, beta, low-affinity (granulocyte-macrophage)); CSF2RY
(Granulocyte-macrophage colony-stimulating factor receptor, alpha); CSF3
(Colony stimulating factor 3 (granulocyte)); CSF3R (Colony stimulating factor 3
receptor (granulocyte)); CSF3R (Colony stimulating factor 3 receptor
(granulocyte)); CSH1 (Chorionic somatomammotropin hormone 1 (placental lactogen));
CSMF (Chondrosarcoma, extraskeletal myxoid, fused to EWS in); CSN1 (Casein,
alpha); CSN2 (Casein, beta); CSNU3 (Cystinuria type 3); CSPG2 (Chondroitin
sulfate proteoglycan 2 (versican)); CSPG3 (Chondroitin sulfate proteoglycan 3
(neurocan)); CSRP1 (Cysteine and glycine-rich protein 1); CSRP2 (Cysteine and
glycine-rich protein 2 (LIM domain only, smooth muscle)); CST3 (Cystatin C
(amyloid angiopathy and cerebral hemorrhage)); CSTB (Cystatin B (stefin B));
CTF1 (Cardiotrophin 1); CTGF (Connective tissue growth factor); CTLA4
(Cytotoxic T-lymphocyte-associated protein 4); CTNS (Cystinosis, nephropathic);
CTSB (Cathepsin B); CTSC (Cathepsin C); CTSF (Cathepsin F); CTSG (Cathepsin G);
CTSK (Cathepsin K (pycnodysostosis)); CTSL (Cathepsin L); CTSS (Cathepsin S);
CUBN (Cubilin (intrinsic factor-cobalamin receptor)); CX3CR1 (Chemokine
(C-X3-C) receptor 1); CXCR4 (Chemokine (C-X-C motif), receptor 4 (fusin)); CYBA
(Cytochrome b-245, alpha polypeptide); CYBB (Cytochrome b-245, beta polypeptide
(chronic granulomatous disease)); CYP11A (Cytochrome P450, subfamily XIA
(cholesterol side chain cleavage)); CYP11B2 (Cytochrome P450, subfamily XIB
(steroid 11-beta-hydroxylase), polypeptide 2); CYP17 (Cytochrome P450,
subfamily XVII (steroid 17-alpha-hydroxylase), adrenal hyperplasia); CYP19
(Cytochrome P450, subfamily XIX (aromatization of androgens)); CYP1A2
(Cytochrome P450, subfamily I (aromatic compound-inducible), polypeptide 2);
CYP1B1 (Cytochrome P450, subfamily I (dioxin-inducible), polypeptide 1
(glaucoma 3, primary infantile)); CYP21 (Cytochrome P450, subfamily XXI
(steroid 21-hydroxylase, congenital adrenal hyperplasia)); CYP27A1 (Cytochrome
P450, subfamily XXVIIA (steroid 27-hydroxylase, cerebrotendinous
xanthomatosis), polypeptide 1); CYP2A (Cytochrome P450, subfamily IIA
(phenobarbital-inducible)); CYP2A6 (Cytochrome P450, subfamily IIA
(phenobarbital-inducible), polypeptide 6); CYP2C9 (Cytochrome P450, subfamily
IIC (mephenytoin 4-hydroxylase), polypeptide 9); CYP2D@ (Cytochrome P450,
subfamily IID (debrisoquine, sparteine, etc., -metabolizing) cluster); CYP2E
(Cytochrome P450, subfamily IIE (ethanol-inducible)); CYP7A1 (Cytochrome P450,
subfamily VIIA (cholesterol 7 alpha-monooxygenase), polypeptide 1); D2S69E
(T-lymphocyte activation gene 519); D6S207E (Minor histocompatibility antigen
HA-2); D6S2244E (Ke4 gene, mouse, human homolog of); D6S231E (DEK gene); D6S51E
(HLA-B associated transcript-2); D6S52E (HLA-B associated transcript-3); D6S54E
(HLA-B associated transcript-4); D6S81E (HLA-B associated transcript-1); D6S82E
(HLA-B associated transcript-5); DAD1 (Defender against cell death 1); DAF
(Decay accelerating factor for complement (CD55, Cromer blood group system));
DAG1 (Dystroglycan 1 (dystrophin-associated glycoprotein 1)); DAO (D-amino-acid
oxidase); DAP (Death-associated protein); DAPK1 (Death-associated protein
kinase 1); DAPK3 (Death-associated protein kinase 3); DBH (Dopamine
beta-hydroxylase (dopamine beta-monooxygenase)); DCC (Deleted in colorectal
carcinoma); DCP1 (Dipeptidyl carboxypeptidase 1 (angiotensin I converting
enzyme)); DCX (Doublecortex; lissencephaly, X-linked (doublecortin)); DDX10
(DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 10 (RNA helicase)); DDX11 (DEAD/H
(Asp-Glu-Ala-Asp/His) box polypeptide 11 (S.cerevisiae CHL1-like helicase) );
DEFA1 (Defensin, alpha 1, myeloid-related sequence); DEFA4 (Defensin, alpha 4,
corticostatin); DEFA5 (Defensin, alpha 5, Paneth cell-specific); DEFA6
(Defensin, alpha 6, Paneth cell-specific); DEFB1 (Defensin, beta 1); DF (D
component of complement (adipsin)); DFFA (DNA fragmentation factor, 45 kD,
alpha subunit); DFFB (DNA fragmentation factor, 40 kD, beta subunit); DGCR
(DiGeorge syndrome chromosome region); DGI1 (Dentinogenesis imperfecta 1); DHFR
(Dihydrofolate reductase); DI (Diego blood group); DIA1 (Diaphorase (NADH)
(cytochrome b-5 reductase)); DM (Dystrophia myotonica (includes dystrophia
myotonia protein kinase)); DMD (Dystrophin (muscular dystrophy, Duchenne and
Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269,
DXS270, DXS272); DMP1 (Dentin matrix acidic phosphoprotein); DNASE1
(Deoxyribonuclease I); DNASE1L1 (Deoxyribonuclease I-like 1); DNASE1L2
(Deoxyribonuclease I-like 2); DNASE1L3 (Deoxyribonuclease I-like 3); DNASE2
(Deoxyribonuclease II, lysosomal); DNTT (Deoxynucleotidyltransferase,
terminal); DOCK1 (Dedicator of cyto-kinesis 1); DPP4 (Dipeptidylpeptidase IV
(CD26, adenosine deaminase complexing protein 2) ); DPYD (Dihydropyrimidine
dehydrogenase); DRA (Down-regulated in adenoma); DRD2 (Dopamine receptor D2);
DRD3 (Dopamine receptor D3); DRD4 (Dopamine receptor D4); DSG1 (Desmoglein 1);
DSG3 (Desmoglein 3 (pemphigus vulgaris antigen)); DSP (Desmoplakin (DPI,
DPII)); DTD (Diastrophic dysplasia); DTNA (Dystrobrevin, alpha); DTR
(Diphtheria toxin receptor (heparin-binding epidermal growth factor-like growth
factor)); DXS423E (Segregation of mitotic chromosomes 1 (SMC1, yeast human
homolog of;); DXS435E (A-11 gene); DYS (Dysautonomia (Riley-Day syndrome,
hereditary sensory autonomic neuropathy type III)); DYX2 (Dyslexia 2); E2F1
(E2F transcription factor 1); EBF (Early B-cell factor); ECB2); ECGF1
(Endothelial cell growth factor 1 (platelet-derived)); ED1 (Ectodermal
dysplasia 1, anhidrotic); EDG1 (Endothelial differentiation, sphingolipid
G-protein-coupled receptor, 1); EDN1 (Endothelin 1); EEC2 (Ectrodactyly,
ectodermal dysplasia and cleft lip/palate syndrome 2); EGR1 (Early growth
response 1); EGR2 (Early growth response 2 (Krox-20 (Drosophila) homolog));
EIF3S6 (Eukaryotic translation initiation factor 3, subunit 6 (48kD)); EIF4G1
(Eukaryotic translation initiation factor 4 gamma, 1); EIF4G2 (Eukaryotic
translation initiation factor 4 gamma, 2); EIF5A (Eukaryotic translation
initiation factor 5A); EJM1 (Epilepsy, juvenile myoclonic 1); ELA2 (Elastase 2,
neutrophil); ELANH2 (Protease inhibitor 2 (anti-elastase),
monocyte/neutrophil); ELAVL2 (ELAV (embryonic lethal, abnormal vision,
Drosophila)-like 2); ELAVL4 (ELAV (embryonic lethal, abnormal vision,
Drosophila)-like 4 (Hu antigen D)); ELN (Elastin (supravalvular aortic
stenosis, Williams-Beuren syndrome)); ENG (Endoglin (Osler-Rendu-Weber syndrome
1)); ENPEP (Glutamyl aminopeptidase (aminopeptidase A)); EPB41 (Erythrocyte
membrane protein band 4.1 (elliptocytosis 1, RH-linked)); EPB42 (Erythrocyte
membrane protein band 4.2); EPHA3 (EphA3); EPHX1 (Epoxide hydrolase 1,
microsomal (xenobiotic)); EPHX2 (Epoxide hydrolase 2, cytoplasmic); EPO
(Erythropoietin); EPOR (Erythropoietin receptor); EPOR (Erythropoietin
receptor); EPOR (Erythropoietin receptor); EPS15 (Epidermal growth factor
receptor pathway substrate 15); EPT (Epilepsy, partial); ERBB2 (V-erb-b2 avian
erythroblastic leukemia viral oncogene homolog 2 (neuro/glioblastoma derived
oncogene homolog)); ERCC1 (Excision repair cross-complementing rodent repair
deficiency, complementation group 1 (includes overlapping antisense sequence));
ERCC2 (Excision repair cross-complementing rodent repair deficiency,
complementation group 2 (xeroderma pigmentosum D)); ERCC3 (Excision repair
cross-complementing rodent repair deficiency, complementation group 3
(xeroderma pigmentosum group B complementing)); ERCC4 (Excision repair
cross-complementing rodent repair deficiency, complementation group 4); ERCC5
(Excision repair cross-complementing rodent repair deficiency, complementation
group 5 (xeroderma pigmentosum, complementation group G (Cockayne syndrome)));
ES1 (ES1 (zebrafish) protein, human homolog of); ESB3 (Esterase B3); ESD
(Esterase D/formylglutathione hydrolase); ESR1 (Estrogen receptor 1); ESR2
(Estrogen receptor 2 (ER beta)); ETV4 (Ets variant gene 4 (E1A enhancer-binding
protein, E1AF)); ETV6 (Ets variant gene 6 (TEL oncogene)); EYCL3 (Eye color 3
(brown)); F10 (Coagulation factor X); F11 (Coagulation factor XI (plasma
thromboplastin antecedent)); F12 (Coagulation factor XII (Hageman factor));
F13A1 (Coagulation factor XIII, A1 polypeptide); F13B (Coagulation factor XIII,
B polypeptide); F2 (Coagulation factor II (thrombin)); F2R (Coagulation factor
II (thrombin) receptor); F2RL2 (Coagulation factor II (thrombin) receptor-like
2); F3 (Coagulation factor III (thromboplastin, tissue factor)); F5
(Coagulation factor V (proaccelerin, labile factor)); F7 (Coagulation factor
VII (serum prothrombin conversion accelerator)); F7R (Coagulation factor VII
regulator); F8A (Factor VIII associated gene); F8C (Coagulation factor VIIIc,
procoagulant component (hemophilia A)); F9 (Coagulation factor IX (plasma
thromboplastic component, Christmas disease, hemophilia B)); FABP1 (Fatty acid
binding protein 1, liver); FABP2 (Fatty acid binding protein 2, intestinal);
FABP6 (Fatty acid binding protein 6, ileal (gastrotropin)); FADD (Fas
(TNFRSF6)-associated via death domain); FAH (Fumarylacetoacetate); FANCA
(Fanconi anemia, complementation group A); FANCB (Fanconi anemia,
complementation group B); FANCC (Fanconi anemia, complementation group C);
FANCE (Fanconi anemia, complementation group E); FANCG (Fanconi anemia,
complementation group G); FAT (FAT tumor suppressor (Drosophila) homolog);
FBLN1 (Fibulin 1); FBN1 (Fibrillin 1 (Marfan syndrome)); FBP1
(Fructose-bisphosphatase 1); FCAR (Fc fragment of IgA, receptor for); FCER1A
(Fc fragment of IgE, high affinity I, receptor for; alpha polypeptide); FCER1B
(Fc fragment of IgE, high affinity I, receptor for; beta polypeptide); FCER2
(Fc fragment of IgE, low affinity II, receptor for (CD23A)); FCGR1A (Fc
fragment of IgG, high affinity Ia, receptor for (CD64)); FCGR1B (Fc fragment of
IgG, high affinity Ib, receptor for (CD64)); FCGR1B (Fc fragment of IgG, high
affinity Ib, receptor for (CD64)); FCGR2A (Fc fragment of IgG, low affinity
IIa, receptor for (CD32)); FCGR2B (Fc fragment of IgG, low affinity IIb,
receptor for (CD32)); FCGR2C (Fc fragment of IgG, low affinity IIb, receptor
for (CD32)); FCGR3A (Fc fragment of IgG, low affinity IIIa, receptor for (CD16));
FCGR3B (Fc fragment of IgG, low affinity IIIb, receptor for (CD16)); FCN1
(Ficolin (collagen/fibrinogen domain-containing) 1); FDH (Formaldehyde
dehydrogenase); FEA (F9 embryonic antigen); FEB1 (Febrile convulsions 1febrile
convulsions 1); FECH (Ferrochelatase (protoporphyria)); FES (Feline sarcoma
(Snyder-Theilen) viral (v-fes)/Fujinami avian sarcoma (PRCII) viral (v-fps)
oncogene homolog); FGA (Fibrinogen, A alpha polypeptide); FGB (Fibrinogen, B
beta polypeptide); FGF1 (Fibroblast growth factor 1 (acidic)); FGF9 (Fibroblast
growth factor 9 (glia-activating factor)); FGFR1 (Fibroblast growth factor
receptor 1 (fms-related tyrosine kinase 2, Pfeiffer syndrome)); FGFR3
(Fibroblast growth factor receptor 3 (achondroplasia, thanatophoric dwarfism));
FGG (Fibrinogen, gamma polypeptide); FGR (Gardner-Rasheed feline sarcoma viral
(v-fgr) oncogene homolog); FHR2 (Factor H-related gene 2); FKHR (Forkhead
(Drosophila) homolog 1 (rhabdomyosarcoma)); FLG (Filaggrin); FLNB (Filamin B,
beta (actin-binding protein-278)); FLT3 (Fms-related tyrosine kinase 3); FLT3LG
(Fms-related tyrosine kinase 3 ligand); FMO1 (Flavin containing monooxygenase
1); FMO3 (Flavin containing monooxygenase 3); FN1 (Fibronectin 1); FOLR1
(Folate receptor 1 (adult)); FOS (V-fos FBJ murine osteosarcoma viral oncogene
homolog); FOSB (FBJ murine osteosarcoma viral oncogene homolog B); FPDMM); FPR1
(Formyl peptide receptor 1); FPRL1 (Formyl peptide receptor-like 1); FR (Froese
blood group); FRAP1 (FK506 binding protein 12-rapamycin associated protein 1);
FRDA (Friedreich ataxia); FRG1 (FSHD region gene 1); FSHMD1A
(Facioscapulohumeral muscular dystrophy 1A); FTL (Ferritin, light polypeptide);
FTNB (Fertilin beta (a disintegrin and metalloproteinase domain 2)); FUCA1
(Fucosidase, alpha-L- 1, tissue); FUCA2 (Fucosidase, alpha-L- 2, plasma); FUT2
(Fucosyltransferase 2 (secretor status included)); FUT3 (Fucosyltransferase 3
(galactoside 3(4)-L-fucosyltransferase, Lewis blood group included)); FXR1
(Fragile X mental retardation, autosomal homolog); DAD1 (Defender against cell
death 1); DAF (Decay accelerating factor for complement (CD55, Cromer blood
group system)); DAG1 (Dystroglycan 1 (dystrophin-associated glycoprotein 1));
DAO (D-amino-acid oxidase); DAP (Death-associated protein); DAPK1 (Death-associated
protein kinase 1); DAPK3 (Death-associated protein kinase 3); DBH (Dopamine
beta-hydroxylase (dopamine beta-monooxygenase)); DCC (Deleted in colorectal
carcinoma); DCP1 (Dipeptidyl carboxypeptidase 1 (angiotensin I converting
enzyme)); DCX (Doublecortex; lissencephaly, X-linked (doublecortin)); DDX10
(DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 10 (RNA helicase)); DDX11 (DEAD/H
(Asp-Glu-Ala-Asp/His) box polypeptide 11 (S.cerevisiae CHL1-like helicase));
DEFA1 (Defensin, alpha 1, myeloid-related sequence); DEFA4 (Defensin, alpha 4,
corticostatin); DEFA5 (Defensin, alpha 5, Paneth cell-specific); DEFA6
(Defensin, alpha 6, Paneth cell-specific); DEFB1 (Defensin, beta 1); DF (D
component of complement (adipsin)); DFFA (DNA fragmentation factor, 45 kD, alpha
subunit); DFFB (DNA fragmentation factor, 40 kD, beta subunit); DGCR (DiGeorge
syndrome chromosome region); DGI1 (Dentinogenesis imperfecta 1); DHFR
(Dihydrofolate reductase); DI (Diego blood group); DIA1 (Diaphorase (NADH)
(cytochrome b-5 reductase)); DM (Dystrophia myotonica (includes dystrophia
myotonia protein kinase)); DMD (Dystrophin (muscular dystrophy, Duchenne and
Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269,
DXS270, DXS272); DMP1 (Dentin matrix acidic phosphoprotein); DNASE1
(Deoxyribonuclease I); DNASE1L1 (Deoxyribonuclease I-like 1); DNASE1L2
(Deoxyribonuclease I-like 2); DNASE1L3 (Deoxyribonuclease I-like 3); DNASE2
(Deoxyribonuclease II, lysosomal); DNTT (Deoxynucleotidyltransferase,
terminal); DOCK1 (Dedicator of cyto-kinesis 1); DPP4 (Dipeptidylpeptidase IV
(CD26, adenosine deaminase complexing protein 2)); DPYD (Dihydropyrimidine
dehydrogenase); DRA (Down-regulated in adenoma); DRD2 (Dopamine receptor D2);
DRD3 (Dopamine receptor D3); DRD4 (Dopamine receptor D4); DSG1 (Desmoglein 1);
DSG3 (Desmoglein 3 (pemphigus vulgaris antigen)); DSP (Desmoplakin (DPI,
DPII)); DTD (Diastrophic dysplasia); DTNA (Dystrobrevin, alpha); DTR
(Diphtheria toxin receptor (heparin-binding epidermal growth factor-like growth
factor)); DXS423E (Segregation of mitotic chromosomes 1 (SMC1, yeast human
homolog of;); DXS435E (A-11 gene); DYS (Dysautonomia (Riley-Day syndrome,
hereditary sensory autonomic neuropathy type III)); DYX2 (Dyslexia 2); E2F1
(E2F transcription factor 1); EBF (Early B-cell factor ECB2); ECGF1 Endothelial
cell growth factor 1 (platelet-derived)); ED1 (Ectodermal dysplasia 1,
anhidrotic); EDG1 (Endothelial differentiation, sphingolipid);
G-protein-coupled receptor, 1); EDN1 (Endothelin 1); EEC2 (Ectrodactyly, ectodermal
dysplasia and cleft lip/palate syndrome 2); EGR1 (Early growth response 1);
EGR2 (Early growth response 2 (Krox-20 (Drosophila) homolog)); EIF3S6
(Eukaryotic translation initiation factor 3, subunit 6 (48kD)); EIF4G1
(Eukaryotic translation initiation factor 4 gamma, 1); EIF4G2 (Eukaryotic
translation initiation factor 4 gamma, 2); EIF5A (Eukaryotic translation
initiation factor 5A); EJM1 (Epilepsy, juvenile myoclonic 1); ELA2 (Elastase 2,
neutrophil); ELANH2 (Protease inhibitor 2 (anti-elastase), monocyte/neutrophil);
ELAVL2 (ELAV (embryonic lethal, abnormal vision, Drosophila)-like 2); ELAVL4
(ELAV (embryonic lethal, abnormal vision, Drosophila)-like 4 (Hu antigen D));
ELN (Elastin (supravalvular aortic stenosis, Williams-Beuren syndrome) ); ENG (Endoglin
(Osler-Rendu-Weber syndrome 1)); ENPEP (Glutamyl aminopeptidase (aminopeptidase
A)); EPB41 (Erythrocyte membrane protein band 4.1 (elliptocytosis 1,
RH-linked)); EPB42 (Erythrocyte membrane protein band 4.2); EPHA3 (EphA3);
EPHX1 (Epoxide hydrolase 1, microsomal (xenobiotic)); EPHX2 (Epoxide hydrolase
2, cytoplasmic); EPO (Erythropoietin); EPOR (Erythropoietin receptor); EPOR
(Erythropoietin receptor); EPOR (Erythropoietin receptor); EPS15 (Epidermal
growth factor receptor pathway substrate 15); EPT (Epilepsy, partial); ERBB2
(V-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2
(neuro/glioblastoma derived oncogene homolog)); ERCC1 (Excision repair
cross-complementing rodent repair deficiency, complementation group 1 (includes
overlapping antisense sequence)); ERCC2 (Excision repair cross-complementing
rodent repair deficiency, complementation group 2 (xeroderma pigmentosum D));
ERCC3 (Excision repair cross-complementing rodent repair deficiency,
complementation group 3 (xeroderma pigmentosum group B complementing)); ERCC4
(Excision repair cross-complementing rodent repair deficiency, complementation
group 4); ERCC5 (Excision repair cross-complementing rodent repair deficiency,
complementation group 5 (xeroderma pigmentosum, complementation group G
(Cockayne syndrome))); ES1 (ES1 (zebrafish) protein, human homolog of); ESB3
(Esterase B3); ESD (Esterase D/formylglutathione hydrolase); ESR1 (Estrogen
receptor 1); ESR2 (Estrogen receptor 2 (ER beta)); ETV4 (Ets variant gene 4
(E1A enhancer-binding protein, E1AF) ); ETV6 (Ets variant gene 6 (TEL
oncogene)); EYCL3 (Eye color 3 (brown)); F10 (Coagulation factor X); F11
(Coagulation factor XI (plasma thromboplastin antecedent)); F12 (Coagulation
factor XII (Hageman factor)); F13A1 (Coagulation factor XIII, A1 polypeptide);
F13B (Coagulation factor XIII, B polypeptide); F2 (Coagulation factor II
(thrombin)); F2R (Coagulation factor II (thrombin) receptor); F2RL2
(Coagulation factor II (thrombin) receptor-like 2); F3 (Coagulation factor III
(thromboplastin, tissue factor)); F5 (Coagulation factor V (proaccelerin,
labile factor)); F7 (Coagulation factor VII (serum prothrombin conversion
accelerator)); F7R (Coagulation factor VII regulator); F8A (Factor VIII
associated gene); F8C (Coagulation factor VIIIc, procoagulant component
(hemophilia A)); F9 (Coagulation factor IX (plasma thromboplastic component,
Christmas disease, hemophilia B)); FABP1 (Fatty acid binding protein 1, liver);
FABP2 (Fatty acid binding protein 2, intestinal); FABP6 (Fatty acid binding
protein 6, ileal (gastrotropin)); FADD (Fas (TNFRSF6)-associated via death
domain); FAH (Fumarylacetoacetate); FANCA (Fanconi anemia, complementation
group A); FANCB (Fanconi anemia, complementation group B); FANCC (Fanconi
anemia, complementation group C); FANCE (Fanconi anemia, complementation group
E); FANCG (Fanconi anemia, complementation group G); FAT (FAT tumor suppressor
(Drosophila) homolog); FBLN1 (Fibulin 1); FBN1 (Fibrillin 1 (Marfan syndrome));
FBP1 (Fructose-bisphosphatase 1); FCAR (Fc fragment of IgA, receptor for);
FCER1A (Fc fragment of IgE, high affinity I, receptor for; alpha polypeptide);
FCER1B (Fc fragment of IgE, high affinity I, receptor for; beta polypeptide);
FCER2 (Fc fragment of IgE, low affinity II, receptor for (CD23A)); FCGR1A (Fc
fragment of IgG, high affinity Ia, receptor for (CD64)); FCGR1B (Fc fragment of
IgG, high affinity Ib, receptor for (CD64)); FCGR1B (Fc fragment of IgG, high
affinity Ib, receptor for (CD64)); FCGR2A (Fc fragment of IgG, low affinity
IIa, receptor for (CD32)); FCGR2B (Fc fragment of IgG, low affinity IIb,
receptor for (CD32)); FCGR2C (Fc fragment of IgG, low affinity IIb, receptor
for (CD32)); FCGR3A (Fc fragment of IgG, low affinity IIIa, receptor for
(CD16)); FCGR3B (Fc fragment of IgG, low affinity IIIb, receptor for (CD16));
FCN1 (Ficolin (collagen/fibrinogen domain-containing) 1); FDH (Formaldehyde
dehydrogenase); FEA (F9 embryonic antigen); FEB1 (Febrile convulsions 1febrile
convulsions 1); FECH (Ferrochelatase (protoporphyria)); FES (Feline sarcoma
(Snyder-Theilen) viral (v-fes)/Fujinami avian sarcoma (PRCII) viral (v-fps)
oncogene homolog); FGA (Fibrinogen, A alpha polypeptide); FGB (Fibrinogen, B
beta polypeptide); FGF1 (Fibroblast growth factor 1 (acidic)); FGF9 (Fibroblast
growth factor 9 (glia-activating factor)); FGFR1 (Fibroblast growth factor
receptor 1 (fms-related tyrosine kinase 2, Pfeiffer syndrome)); FGFR3
(Fibroblast growth factor receptor 3 (achondroplasia, thanatophoric dwarfism));
FGG (Fibrinogen, gamma polypeptide); FGR (Gardner-Rasheed feline sarcoma viral
(v-fgr) oncogene homolog); FHR2 (Factor H-related gene 2); FKHR (Forkhead
(Drosophila) homolog 1 (rhabdomyosarcoma)); FLG (Filaggrin); FLNB (Filamin B,
beta (actin-binding protein-278)); FLT3 (Fms-related tyrosine kinase 3); FLT3LG
(Fms-related tyrosine kinase 3 ligand); FMO1 (Flavin containing monooxygenase
1); FMO3 (Flavin containing monooxygenase 3); FN1 (Fibronectin 1); FOLR1
(Folate receptor 1 (adult)); FOS (V-fos FBJ murine osteosarcoma viral oncogene
homolog); FOSB (FBJ murine osteosarcoma viral oncogene homolog B); FPDMM); FPR1
(Formyl peptide receptor 1); FPRL1 (Formyl peptide receptor-like 1); FR (Froese
blood group); FRAP1 (FK506 binding protein 12-rapamycin associated protein);
FRDA (Friedreich ataxia); FRG1); FSHD region gene 1); FSHMD1A
(Facioscapulohumeral muscular dystrophy 1A); FTL (Ferritin, light polypeptide);
FTNB (Fertilin beta (a disintegrin and metalloproteinase domain 2)); FUCA1
(Fucosidase, alpha-L- 1, tissue); FUCA2 (Fucosidase, alpha-L- 2, plasma); FUT2
(Fucosyltransferase 2 (secretor status included)); FUT3 (Fucosyltransferase 3
(galactoside); 3(4)-L-fucosyltransferase, Lewis blood group included)); FXR1
(Fragile X mental retardation, autosomal homolog); FY (Duffy blood group); FYB
(FYN-binding protein (FYB-120/130)); G22P1 (Thyroid autoantigen 70kD (Ku
antigen)); G6PD (Glucose-6-phosphate dehydrogenase); GAA (Glucosidase, alpha;
acid (Pompe disease, glycogen storage disease type II)); GABRA5
(Gamma-aminobutyric acid (GABA) A receptor, alpha 5); GABRA6 (Gamma-aminobutyric
acid (GABA) A receptor, alpha 6); GABRB1 (Gamma-aminobutyric acid (GABA) A
receptor, beta 1); GAD2 (Glutamate decarboxylase 2 (pancreatic islets and
brain, 65kD)); GALC (Galactosylceramidase (Krabbe disease)); GALK1
(Galactokinase 1); GALT (Galactose-1-phosphate uridylyltransferase); GANC
(Glucosidase, alpha; neutral C); GAS (Gastrin); GAS6 (Growth arrest-specific
6); GATA3 (GATA-binding protein 3); GBA (Glucosidase, beta; acid (includes
glucosylceramidase)); GC (Group-specific component (vitamin D binding
protein)); GCDH (Glutaryl-Coenzyme A dehydrogenase); GCGR (Glucagon receptor);
GCK (Glucokinase (hexokinase 4, maturity onset diabetes of the young 2)); GCP
(Green cone pigment (color blindness, deutan)); GDH (Glucose dehydrogenase);
GEM (GTP-binding protein overexpressed in skeletal muscle); GFI1 (Growth factor
independent 1); GGCX (Gamma-glutamyl carboxylase); GGT1
(Gamma-glutamyltransferase 1); GGTA1 (Glycoprotein, alpha-galactosyltransferase
1); GH1 (Growth hormone 1); GH2 (Growth hormone 2); GHR (Growth hormone
receptor); GIF (Gastric intrinsic factor (vitamin B synthesis)); GLA
(Galactosidase, alpha); GLC1B (Glaucoma 1, open angle, B (adult-onset)); GLCLC
(Glutamate-cysteine ligase (gamma-glutamylcysteine synthetase), catalytic (72.8kD));
GLO1 (Glyoxalase I); GLP1R (Glucagon-like peptide 1 receptor); GLRB (Glycine
receptor, beta); GLS (Glutaminase); GLUD1 (Glutamate dehydrogenase 1); GLYB
(Glycine B complementing); GLYS1 (Glycosuria 1, renal); GNAQ (Guanine
nucleotide binding protein (G protein), q polypeptide); GNAS1 (Guanine
nucleotide binding protein (G protein), alpha stimulating activity polypeptide
1); GNB3 (Guanine nucleotide binding protein (G protein), beta polypeptide 3);
GNL1 (Guanine nucleotide binding protein-like 1); GOT2 (Glutamic-oxaloacetic
transaminase 2, mitochondrial (aspartate aminotransferase 2)); GP1BA
(Glycoprotein Ib (platelet), alpha polypeptide); GP1BB (Glycoprotein Ib
(platelet), beta polypeptide); GP9 (Glycoprotein IX (platelet)); GPD2
(Glycerol-3-phosphate dehydrogenase 2 (mitochondrial)); GPR10 (G
protein-coupled receptor 10); GPR13 (G protein-coupled receptor 13); GPR15 (G
protein-coupled receptor 15); GPR2 (G protein-coupled receptor 2); GPR30 (G
protein-coupled receptor 30); GPR4 (G protein-coupled receptor 4); GPR5 (G
protein-coupled receptor 5); GPR9 (G protein-coupled receptor 9); GPT
(Glutamic-pyruvate transaminase (alanine aminotransferase)); GPX1 (Glutathione
peroxidase 1); GPX2 (Glutathione peroxidase 2 (gastrointestinal)); GRB10
(Growth factor receptor-bound protein 10); GRB14 (Growth factor receptor-bound
protein 14); GRIK1 (Glutamate receptor, ionotropic, kainate 1); GRIK2
(Glutamate receptor, ionotropic, kainate 2); GRL (Glucocorticoid receptor);
GRO1 (GRO1 oncogene (melanoma growth stimulating activity, alpha)); GRO2 (GRO2
oncogene); GRO3 (GRO3 oncogene); GRPR (Gastrin-releasing peptide receptor); GSN
(Gelsolin (amyloidosis, Finnish type)); GSPT1 (G1 to S phase transition 1); GSR
(Glutathione reductase); GSS (Glutathione synthetase); GSTA1 (Glutathione
S-transferase A1); GSTA2 (Glutathione S-transferase A2); GSTA4 (Glutathione
S-transferase A4); GSTM1 (Glutathione S-transferase M1); GSTM2 (Glutathione
S-transferase M2 (muscle)); GSTM3 (Glutathione S-transferase M3 (brain)); GSTP1
(Glutathione S-transferase pi); GSTT1 (Glutathione S-transferase theta 1);
GTF2H2 (General transcription factor IIH, polypeptide 2 (44kD subunit)); GTS
(Gilles de la Tourette syndrome); GUCY1A3 (Guanylate cyclase 1, soluble, alpha
3); GUCY2D (Guanylate cyclase 2D, membrane (retina-specific)); GUSB
(Glucuronidase, beta); GYPA (Glycophorin A (includes MN blood group)); GYPB
(Glycophorin B (includes Ss blood group)); GYS1 (Glycogen synthase 1 (muscle));
GZMA (Granzyme A (granzyme 1, cytotoxic T-lymphocyte-associated serine esterase
3)); GZMB (Granzyme B (granzyme 2, cytotoxic T-lymphocyte-associated serine
esterase 1)); GZMM (Granzyme M (lymphocyte met-ase 1)); H142T (Temperature
sensitivity complementation, H142); HADHA (Hydroxyacyl-Coenzyme A
dehydrogenase/3-ketoacyl-Coenzyme A thiolase/enoyl-Coenzyme A hydratase
(trifunctional protein), alpha subunit); HADHSC (L-3-hydroxyacyl-Coenzyme A
dehydrogenase, short chain); HAGH (Hydroxyacyl glutathione hydrolase;
glyoxalase 2); HAL (Histidine ammonia-lyase); HBA1 (Hemoglobin, alpha 1); HBB
(Hemoglobin, beta); HBG1 (Hemoglobin, gamma A); HBZ (Hemoglobin, zeta); HCF2
(Heparin cofactor II); HCFC1 (Host cell factor C1 (VP16-accessory protein));
HCR (Chemokine receptor); HD (Huntingtin (Huntington disease)); HDAC1 (Histone
deacetylase 1); HEXA (Hexosaminidase A (alpha polypeptide)); HEXB
(Hexosaminidase B (beta polypeptide)); HF1 (H factor 1 (complement)); HFE
(Hemochromatosis); HFL1 (H factor (complement)-like 1); HGF (Hepatocyte growth
factor (hepapoietin A; scatter factor)); HGL (Heregulin, alpha (45kD, ERBB2
p185-activator)); HIP1 (Huntingtin interacting protein 1); HIVEP1 (Human
immunodeficiency virus type I enhancer-binding protein 1); HK1 (Hexokinase 1);
HK2 (Hexokinase 2); HK3 (Hexokinase 3 (white cell)); HLA-A (Major
histocompatibility complex, class I, A); HLA-B (Major histocompatibility
complex, class I, B); HLA-C (Major histocompatibility complex, class I, C);
HLA-DMA (Major histocompatibility complex, class II, DM alpha); HLA-DMB (Major
histocompatibility complex, class II, DM beta); HLA-DNA (Major
histocompatibility complex, class II, DN alpha); HLA-DOB (Major
histocompatibility complex, class II, DO beta); HLA-DPA1 (Major
histocompatibility complex, class II, DP alpha 1); HLA-DPB1 (Major
histocompatibility complex, class II, DP beta 1); HLA-DQA1 (Major
histocompatibility complex, class II, DQ alpha 1); HLA-DQB1 (Major
histocompatibility complex, class II, DQ beta 1); HLA-DRA (Major
histocompatibility complex, class II, DR alpha); HLA-DRB1 (Major
histocompatibility complex, class II, DR beta 1); HLA-E (Major
histocompatibility complex, class I, E); HLA-F (Major histocompatibility
complex, class I, F); HLA-G (HLA-G histocompatibility antigen, class I, G);
HLALS (Major histocompatibility complex, class I-like sequence (NOTE: symbol provisional));
HLCS (Holocarboxylase synthetase (biotin-[proprionyl-Coenzyme A-carboxylase
(ATP-hydrolysing)] ligase)); HLX1 (H2.0 (Drosophila)-like homeo box 1); HM74
(Putative chemokine receptor; GTP-binding protein); HMAB (Monocyte antigen B);
HMBS (Hydroxymethylbilane synthase); HMGCL
(3-hydroxymethyl-3-methylglutaryl-Coenzyme A lyase
((hydroxymethylglutaricaciduria)); HMGIC (High-mobility group (nonhistone
chromosomal) protein isoform I-C); HMSNL ); HMX1 (Homeo box (H6 family) 1);
HNRPD (Heterogeneous nuclear ribonucleoprotein D); HOXB5 (Homeo box B5); HOXD13
(Homeo box D13); HOXD8 (Homeo box D8); HP (Haptoglobin); HPE1
(Holoprosencephaly 1, alobar); HPN (Hepsin (transmembrane protease, serine 1));
HPR (Haptoglobin-related protein); HPRT1 (Hypoxanthine phosphoribosyltransferase
1 (Lesch-Nyhan syndrome)); HPS (Hermansky-Pudlak syndrome); HPX (Hemopexin); HR
(Hairless (mouse) homolog); HRAS (V-Ha-ras Harvey rat sarcoma viral oncogene
homolog); HRG (Histidine-rich glycoprotein); HRMT1L1 (HMT1 (hnRNP methyltransferase,
S. cerevisiae)-like 1); HRMT1L2 (HMT1 (hnRNP methyltransferase, S.
cerevisiae)-like 2); HRY (Hairy (Drosophila)-homolog); HSD17B3 (Hydroxysteroid
(17-beta) dehydrogenase 3); HSD3B1 (Hydroxy-delta-5-steroid dehydrogenase, 3
beta- and steroid delta-isomerase 1); HSD3B2 (Hydroxy-delta-5-steroid
dehydrogenase, 3 beta- and steroid delta-isomerase 2); HSPA1A (Heat shock 70kD
protein 1); HSPA1L (Heat shock 70kD protein-like 1); HSPA2 (Heat shock 70kD
protein 2); HSPA6 (Heat shock 70kD protein 6 (HSP70B')); HSPG2 (Heparan sulfate
proteoglycan 2 (perlecan)); HTLVR (Human T-cell leukemia virus (I and II)
receptor); HTN1 (Histatin 1); HTN3 (Histatin 3); HTR2A (5-hydroxytryptamine
(serotonin) receptor 2A); HTR2C (5-hydroxytryptamine (serotonin) receptor 2C);
HTR6 (5-hydroxytryptamine (serotonin) receptor 6); HTR7 (5-hydroxytryptamine
(serotonin) receptor 7 (adenylate cyclase-coupled)); HVBS6 (Hepatitis B virus
integration site 6); HY (Histocompatibility Y antigen); IARS (Isoleucine-tRNA
synthetase); IBD1 (Inflammatory bowel disease 1); IBSP (Integrin-binding
sialoprotein (bone sialoprotein, bone sialoprotein II)); ICAM1 (Intercellular
adhesion molecule 1 (CD54), human rhinovirus receptor); ICAM2 (Intercellular
adhesion molecule 2); ICAM3 (Intercellular adhesion molecule 3); ICAM4
(Intercellular adhesion molecule 4, Landsteiner-Wiener blood group); ICAM5
(Intercellular adhesion molecule 5, telencephalin); ICR5 (Ichthyosis congenita
V, Sjogren-Larsson-like); ICS1 (Immotile cilia syndrome 1); ICT1 (Immature
colon carcinoma transcript 1); IDDM10 (Insulin-dependent diabetes mellitus 10);
IDDM11 (Insulin-dependent diabetes mellitus 11); IDDM15 (Insulin-dependent
diabetes mellitus 15); IDDM17 (Insulin-dependent diabetes mellitus 17); IDDM4
(Insulin-dependent diabetes mellitus 4); IDDM6 (Insulin-dependent diabetes
mellitus 6); IDDM7 (Insulin-dependent diabetes mellitus 7); IDDMX (Diabetes
mellitus, insulin-dependent, X-linked, susceptibility to); IDH1 (Isocitrate
dehydrogenase 1 (NADP+), soluble); IDS (Iduronate 2-sulfatase (Hunter
syndrome)); IDUA (Iduronidase, alpha-L-); IF (I factor (complement)); IFNA1
(Interferon, alpha 1); IFNA10 (Interferon, alpha 10); IFNA13 (Interferon, alpha
13); IFNA2 (Interferon, alpha 2); IFNAR1 (Interferon (alpha, beta and omega)
receptor 1); IFNAR2 (Interferon (alpha, beta and omega) receptor 2); IFNG
(Interferon, gamma); IFNGR1 (Interferon gamma receptor 1); IFNGR2 (Interferon
gamma receptor 2 (interferon gamma transducer 1)); IFNR (Interferon production
regulator); IGAT (Immune response to synthetic polypeptide--IRGAT); IGER (IgE
responsiveness (atopic)); IGES (Immunoglobulin E concentration, serum); IGF1
(Insulin-like growth factor 1 (somatomedin C)); IGF1R (Insulin-like growth
factor 1 receptor); IGF2 (Insulin-like growth factor 2 (somatomedin A)); IGF2R
(Insulin-like growth factor 2 receptor); IGFBP1 (Insulin-like growth factor
binding protein 1); IGFBP10 (Insulin-like growth factor binding protein 10);
IGFBP2 (Insulin-like growth factor binding protein 2 (36kD)); IGFBP3
(Insulin-like growth factor binding protein 3); IGHA1 (Immunoglobulin alpha 1);
IGHA2 (Immunoglobulin alpha 2 (A2M marker)); IGHE (Immunoglobulin epsilon);
IGHG1 (Immunoglobulin gamma 1 (Gm marker)); IGHG2 (Immunoglobulin gamma 2 (Gm
marker)); IGHV@ (Immunoglobulin heavy polypeptide, variable region (cluster));
IGJ (Immunoglobulin J polypeptide, linker protein for immunoglobulin alpha and
mu polypeptides); IGKC (Immunoglobulin kappa constant region); IGKV
(Immunoglobulin kappa variable region); IGLP1 (Immune response to synthetic
polypeptides-1); IGLP2 (Immune response to synthetic polypeptides-2); IL10
(Interleukin 10); IL10RA (Interleukin 10 receptor, alpha); IL10RA (Interleukin
10 receptor, alpha); IL10RB (Interleukin 10 receptor, beta); IL10RB
(Interleukin 10 receptor, beta); IL11 (Interleukin 11); IL11RA (Interleukin 11
receptor, alpha); IL11RA (Interleukin 11 receptor, alpha); IL11RB (Interleukin
11 receptor, beta); IL12A (Interleukin 12A (natural killer cell stimulatory
factor 1, cytotoxic lymphocyte maturation factor 1, p35)); IL12B (Interleukin
12B (natural killer cell stimulatory factor 2, cytotoxic lymphocyte maturation
factor 2, p40)); IL12RB1 (Interleukin 12 receptor, beta 1); IL12RB2
(Interleukin 12 receptor, beta 2); IL12RB2 (Interleukin 12 receptor, beta 2);
IL13 (Interleukin 13); IL13RA1 (Interleukin 13 receptor, alpha 1); IL13RA2
(Interleukin 13 receptor, alpha 2); IL13RA2 (Interleukin 13 receptor, alpha 2);
IL15 (Interleukin 15); IL15RA (Interleukin 15 receptor, alpha); IL15RA
(Interleukin 15 receptor, alpha); IL15RB (Interleukin 15 receptor, beta); IL16
(Interleukin 16 (lymphocyte chemoattractant factor)); IL17 (Interleukin 17
(cytotoxic T-lymphocyte-associated serine esterase 8)); IL18 (Interleukin 18
(interferon-gamma-inducing factor)); IL18BP (Interleukin 18 binding protein);
IL18R1 (Interleukin 18 receptor 1); IL18RAP (Interleukin 18 receptor accessory
protein); IL1A (Interleukin 1, alpha); IL1B (Interleukin 1, beta); IL1R1
(Interleukin 1 receptor, type I); IL1R1 (Interleukin 1 receptor, type I); IL1R2
(Interleukin 1 receptor, type II); IL1RAP (Interleukin 1 receptor accessory
protein); IL1RL2 (Interleukin 1 receptor-like 2); IL1RN (Interleukin 1 receptor
antagonist); IL2 (Interleukin 2); IL2RA (Interleukin 2 receptor, alpha); IL2RA
(Interleukin 2 receptor, alpha); IL2RB (Interleukin 2 receptor, beta); IL2RB
(Interleukin 2 receptor, beta); IL2RG (Interleukin 2 receptor, gamma (severe
combined immunodeficiency) ); IL2RG (Interleukin 2 receptor, gamma (severe
combined immunodeficiency)); IL3 (Interleukin 3 (colony-stimulating factor,
multiple)); IL3RA (Interleukin 3 receptor, alpha (low affinity)); IL4
(Interleukin 4); IL4R (Interleukin 4 receptor); IL4R (Interleukin 4 receptor);
IL5 (Interleukin 5 (colony-stimulating factor, eosinophil)); IL5RA (Interleukin
5 receptor, alpha); IL5RA (Interleukin 5 receptor, alpha); IL6 (Interleukin 6
(interferon, beta 2)); IL6R (Interleukin 6 receptor); IL6ST (Interleukin 6
signal transducer (gp130, oncostatin M receptor)); IL6ST (Interleukin 6 signal
transducer (gp130, oncostatin M receptor)); IL7 (Interleukin 7); IL7R
(Interleukin 7 receptor); IL8 (Interleukin 8); IL8RA (Interleukin 8 receptor,
alpha); IL8RB (Interleukin 8 receptor, beta); IL8RB (Interleukin 8 receptor,
beta); IL9 (Interleukin 9); IL9R (Interleukin 9 receptor); IL9R (Interleukin 9
receptor); ILF1 (Interleukin enhancer binding factor 1); ILF2 (Interleukin
enhancer binding factor 2, 45kD); ILF3 (Interleukin enhancer binding factor 3,
90kD); IMPA1 (Inositol(myo)-1(or 4)-monophosphatase 1); IMPT1 (Imprinted
polyspecific membrane transporter 1); INLU (Lutheran inhibitor, dominant
(monoclonal antibody A3D8) ); INP10 (Interferon (gamma)-induced cell line;
protein 10 from INPP5D Inositol polyphosphate-5-phosphatase, 145kD); INS
(Insulin); INSR (Insulin receptor); IPF1 (Insulin promoter factor 1,
homeodomain transcription factor); IPOX (Intestinal pseudoobstruction,
neuronal, primary idiopathic); IRAK1 (Interleukin-1 receptor-associated kinase
1); IRAK2 (Interleukin-1 receptor-associated kinase 2); IRF4 (Interferon regulatory
factor 4); IRS1 (Insulin receptor substrate 1); ITGA1 (Integrin, alpha 1);
ITGA2 (Integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)); ITGA2B
(Integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen
CD41B)); ITGA4 (Integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4
receptor) ); ITGA5 (Integrin, alpha 5 (fibronectin receptor, alpha
polypeptide)); ITGA6 (Integrin, alpha 6); ITGA7 (Integrin, alpha 7); ITGAD
(Integrin, alpha D); ITGAL (Integrin, alpha L (antigen CD11A (p180), lymphocyte
function-associated antigen 1; alpha polypeptide)); ITGAM (Integrin, alpha M
(complement component receptor 3, alpha; also known as CD11b (p170), macrophage
antigen alpha polypeptide)); ITGAV (Integrin, alpha V (vitronectin receptor,
alpha polypeptide, antigen CD51)); ITGAX (Integrin, alpha X (antigen CD11C
(p150), alpha polypeptide)); ITGB1 (Integrin, beta 1 (fibronectin receptor,
beta polypeptide, antigen CD29 includes MDF2, MSK12)); ITGB2 (Integrin, beta 2
(antigen CD18 (p95), lymphocyte function-associated antigen 1; macrophage
antigen 1 (mac-1) beta subunit)); ITGB3 (Integrin, beta 3 (platelet
glycoprotein IIIa, antigen CD61)); ITGB4 (Integrin, beta 4); ITGB4BP (Integrin
beta 4 binding protein); ITGB5 (Integrin, beta 5); ITGB6 (Integrin, beta 6);
ITGB7 (Integrin, beta 7); ITIH1 (Inter-alpha (globulin) inhibitor, H1
polypeptide); ITIH4 (Inter-alpha (globulin) inhibitor H4 (plasma
Kallikrein-sensitive glycoprotein)); ITK (IL2-inducible T-cell kinase); IVL
(Involucrin); JAK1 (Janus kinase 1 (a protein tyrosine kinase)); JAK2 (Janus
kinase 2 (a protein tyrosine kinase)); JAK3 (Janus kinase 3 (a protein tyrosine
kinase, leukocyte)); JPD (Juvenile periodontitis); JUP (Junction plakoglobin);
KAL1 (Kallmann syndrome 1 sequence); KARS (Lysyl-tRNA synthetase); KCNA1
(Potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic
ataxia with myokymia)); KCNA2 (Potassium voltage-gated channel, shaker-related
subfamily, member 2); KCNA3 (Potassium voltage-gated channel, shaker-related subfamily,
member 3); KCNA5 (Potassium voltage-gated channel, shaker-related subfamily,
member 5); KCNE1 (Potassium voltage-gated channel, Isk-related family, member
1); KCNJ12 (Potassium inwardly-rectifying channel, subfamily J, member 12);
KCNJ3 (Potassium inwardly-rectifying channel, subfamily J, member 3); KCNQ1
(Potassium voltage-gated channel, KQT-like subfamily, member 1); KCNQ2
(Potassium voltage-gated channel, KQT-like subfamily, member 2); KDR (Kinase
insert domain receptor (a type III receptor tyrosine kinase)); KEL (Kell blood
group); KHK (Ketohexokinase (fructokinase)); KIR2DL4 (Killer cell
immunoglobulin-like receptor, two domains, long cytoplasmic tail, 4); KIT
(V-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog); KLKB1
(Kallikrein B plasma, (Fletcher factor) 1); KLRC2 (Killer cell lectin-like
receptor subfamily C, member 2); KLRC3 (Killer cell lectin-like receptor
subfamily C, member 3); KLRC4 (Killer cell lectin-like receptor subfamily C,
member 4); KLRD1 (Killer cell lectin-like receptor subfamily D, member 1); KNG
(Kininogen); KPNA1 (Karyopherin alpha 1 (importin alpha 5)); KRAS2 (V-Ki-ras2
Kirsten rat sarcoma 2 viral oncogene homolog); KRT4 (Keratin 4); KRT9 (Keratin
9 (epidermolytic palmoplantar keratoderma)); KRTHA4 (Keratin, hair, acidic, 4);
KRTHB4 (Keratin, hair, basic, 4); KSR (Kinase suppressor of ras); L1CAM (L1
cell adhesion molecule (hydrocephalus, stenosis of queduct of Sylvius 1, MASA
(mental retardation, aphasia, shuffling gait and adducted thumbs) syndrome,
spastic paraplegia 1)); LAG3 (Lymphocyte-activation gene 3); LAG5 (Leukocyte
antigen group 5); LAKL (Lymphokine-activated killer cell ligand); LALBA
(Lactalbumin, alpha-); LAMA3 (Laminin, alpha 3 (nicein (150kD), kalinin
(165kD), BM600 (150kD), epilegrin)); LAMC1 (Laminin, gamma 1 (formerly LAMB2));
LAMP2 (Lysosomal-associated membrane protein 2); LAMR1 (Laminin receptor 1
(67kD); Ribosomal protein SA); LBP (Lipopolysaccharide-binding protein); LCK
(Lymphocyte-specific protein tyrosine kinase); LCN1 (Lipocalin 1 (protein
migrating faster than albumin, tear prealbumin)); LCN2 (Lipocalin 2 (oncogene
24p3)); LCP1 (Lymphocyte cytosolic protein 1 (L-plastin)); LCP2 (Lymphocyte
cytosolic protein 2 (SH2 domain-containing leukocyte protein of 76kD)); LDHA
(Lactate dehydrogenase A); LDLR (Low density lipoprotein receptor (familia
X02152); LDLR (Low density lipoprotein receptor (familial
hypercholesterolemia)); LECT2 (Leukocyte cell-derived chemotaxin 2); LEP
(Leptin (murine obesity homolog)); LEPR (Leptin receptor); LGALS1 (Lectin,
galactoside-binding, soluble, 1 (galectin 1)); LGALS3 (Lectin,
galactoside-binding, soluble, 3 (galectin 3)); LGALS3BP (Lectin,
galactoside-binding, soluble, 3 binding protein (galectin 6 binding protein));
LGALS9 (Lectin, galactoside-binding, soluble, 9 (galectin 9)); LHB (Luteinizing
hormone beta polypeptide); LHCGR (Luteinizing hormone/choriogonadotropin
receptor); LIF (Leukemia inhibitory factor (cholinergic differentiation
factor)); LIFR (Leukemia inhibitory factor receptor); LIFR (Leukemia inhibitory
factor receptor); LIG1 (Ligase I, DNA, ATP-dependent); LKN-1 (Chemokine CC-2,);
LMAN1 (Lectin, mannose-binding, 1); LMO4 (LIM domain only 4); LNPEP
(Leucyl/cystinyl aminopeptidase); LOX (Lysyl oxidase); LPA (Lipoprotein,
Lp(a)); LPL (Lipoprotein lipase); LQT2 (Long (electrocardiographic) QT syndrome
2); LRP1 (Low density lipoprotein-related protein 1 (alpha-2-macroglobulin
receptor)); LRP2 (Low density lipoprotein-related protein 2); LSL (Leptin,
serum levels of); LSP1 (Lymphocyte-specific protein 1); LTA (Lymphotoxin alpha
(TNF superfamily, member 1)); LTB4R (Leukotriene b4 receptor (chemokine
receptor-like 1)); LTB4R (Leukotriene b4 receptor (chemokine receptor-like 1));
LTC4S (Leukotriene C4 synthase); LTF (Lactotransferrin); LTK (Leukocyte
tyrosine kinase); LU (Lutheran blood group (Auberger b antigen included)); LY64
(Lymphocyte antigen 64 (mouse) homolog, radioprotective, 105kD); LY9
(Lymphocyte antigen 9); LYN (V-yes-1 Yamaguchi sarcoma viral related oncogene
homolog); LYZ (Lysozyme (renal amyloidosis)); M1S1 (Membrane component,
chromosome 1, surface marker 1 (40kD glycoprotein, identified by monoclonal
antibody GA733)); MAB21L1 (Mab-21 (C. elegans)-like 1); MACAM1 (Mucosal
addressin cell adhesion molecule-1); MADH1 (MAD (mothers against decapentaplegic,
Drosophila) homolog 1); MADH2 (MAD (mothers against decapentaplegic,
Drosophila) homolog 2); MADH4 (MAD (mothers against decapentaplegic,
Drosophila) homolog 4); MAGEA1 (Melanoma antigen, family A, 1 (directs
expression of antigen MZ2-E)); MAGEB1 (Melanoma antigen, family B, 1); MAL
(Mal, T-cell differentiation protein); MALL (Mal, T-cell differentiation
protein-like); MANB (Mannosidase, alpha B, lysosomal); MAP1B
(Microtubule-associated protein 1B); MAPKAPK3 (Mitogen-activated protein
kinase-activated protein kinase 3); MASP1 (Mannan-binding lectin serine
protease 1 (C4/C2 activating component of Ra-reactive factor)); MAT2A
(Methionine adenosyltransferase II, alpha); MATN1 (Matrilin 1, cartilage matrix
protein); MATN3 (Matrilin 3); MBL2 (Mannose-binding lectin (protein C) 2,
soluble (opsonic defect)); MC1R (Melanocortin 1 receptor (alpha melanocyte
stimulating hormone receptor)); MC2R (Melanocortin 2 receptor
(adrenocorticotropic hormone)); MCC (Mutated in colorectal cancers); MCF2
(MCF.2 cell line derived transforming sequence); MCP (Membrane cofactor protein
(CD46, trophoblast-lymphocyte cross-reactive antigen)); MDF1 (Antigen
identified by monoclonal antibody A-3A4); MDH2 (Malate dehydrogenase 2, NAD
(mitochondrial)); MDU1 (Antigen identified by monoclonal antibodies 4F2,
TRA1.10, TROP4, and T43); ME1 (Malic enzyme 1, soluble); ME2 (Malic enzyme 2,
mitochondrial); MEKK1 (MAP/ERK kinase kinase 1); MEKK3 (MAP/ERK kinase kinase
3); MEMO1 (Methylation modifier for class I HLA); MEN1 (Multiple endocrine neoplasia
I); MEP1A (Meprin A, alpha (PABA peptide hydrolase)); MER2 (Antigen identified
by monoclonal antibodies 1D12, 2F7); MFAP2 (Microfibrillar-associated protein
2); MFAP4 (Microfibrillar-associated protein 4); MFTS (Migraine, familial
typical, susceptibility to); MGCT ( MGI); MGP (Matrix Gla protein); MHC2TA (MHC
class II transactivator); MIC2 (Antigen identified by monoclonal antibodies
12E7, F21 and O13); MIC5 (Antigen identified by monoclonal antibody R1); MIC7
(Antigen identified by monoclonal antibody 28.3.7); MICA (MHC class I
polypeptide-related sequence A); MIF (Macrophage migration inhibitory factor
(glycosylation-inhibiting factor)); MIG (Monokine induced by gamma interferon);
MIR-10 (Leukocyte immunoglobulin-like receptor); MITF (Microphthalmia-associated
transcription factor); MLLT2 (Myeloid/lymphoid or mixed-lineage leukemia
(trithorax (Drosophila) homolog); translocated to, 2); MLN (Motilin); MLR
(Mineralocorticoid receptor (aldosterone receptor)); MMP12 (Matrix
metalloproteinase 12 (macrophage elastase)); MMP13 (Matrix metalloproteinase 13
(collagenase 3)); MMP14 (Matrix metalloproteinase 14 (membrane-inserted));
MMP15 (Matrix metalloproteinase 15 (membrane-inserted)); MMP16 (Matrix
metalloproteinase 16 (membrane-inserted)); MMP17 (Matrix metalloproteinase 17
(membrane-inserted)); MMP18 (Matrix metalloproteinase 18); MMP19 (Matrix
metalloproteinase 19); MMP2 (Matrix metalloproteinase 2 (gelatinase A, 72kD
gelatinase, 72kD type IV collagenase)); MMP20 (Matrix metalloproteinase 20);
MMP21 (Matrix metalloproteinase 21); MMP3 (Matrix metalloproteinase 3
(stromelysin 1, progelatinase)); MMP7 (Matrix metalloproteinase 7 (matrilysin,
uterine)); MMP8 (Matrix metalloproteinase 8 (neutrophil collagenase)); MMP9
(Matrix metalloproteinase 9 (gelatinase B, 92kD gelatinase, 92kD type IV
collagenase)); MNG1 (Multinodular goitre 1); MOG (Myelin oligodendrocyte
glycoprotein); MPL (Myeloproliferative leukemia virus oncogene); MPO
(Myeloperoxidase); MRBC (Monkey RBC receptor); MRC1 (Mannose receptor, C type
1); MRX20 (Mental retardation, X-linked 20); MSH3 (MutS (E. coli) homolog 3);
MSLR1 (Macrophage scavenger receptor-like 1); MSR1 (Macrophage scavenger
receptor 1); MSS (Marinesco-Sjogren syndrome); MSSE (Multiple self-healing
squamous epithelioma); MST1 (Macrophage stimulating 1 (hepatocyte growth
factor-like)); MST1R (Macrophage stimulating 1 receptor (c-met-related tyrosine
kinase)); MSX2 (Msh (Drosophila) homeo box homolog 2); MTCO1 (Cytochrome c
oxidase I); MTHFD (5,10-methylenetetrahydrofolate dehydrogenase,
5,10-methylenetetrahydrofolate cyclohydrolase, 10-formyltetrahydrofolate
synthetase); MTHFR (5,10-methylenetetrahydrofolate reductase (NADPH)); MTND2
(NADH dehydrogenase 2); MTP (Microsomal triglyceride transfer protein (large
polypeptide, 88kD)); MTR (5-methyltetrahydrofolate-homocysteine
methyltransferase); MTRR (5-methyltetrahydrofolate-homocysteine
methyltransferase reductase); MUC1 (Mucin 1, transmembrane); MUC2 (Mucin 2,
intestinal/tracheal); MUC4 (Mucin 4, tracheobronchial); MUL (Mulibrey nanism); MUT
(Methylmalonyl Coenzyme A mutase); MX1 (Myxovirus (influenza) resistance 1,
homolog of murine (interferon-inducible protein p78)); MXI1 (MAX-interacting
protein 1); MYB (V-myb avian myeloblastosis viral oncogene homolog); MYBPC3
(Myosin-binding protein C, cardiac); MYC (V-myc avian myelocytomatosis viral
oncogene homolog); MYCL1 (V-myc avian myelocytomatosis viral oncogene homolog
1, lung carcinoma derived); MYD88 (Myeloid differentiation primary response
gene (88)); MYF5 (Myogenic factor 5); MYF6 (Myogenic factor 6 (herculin));
MYO5A (Myosin VA (heavy polypeptide 12, myoxin)); MYO9B (Myosin IXB); NAB1
(NGFI-A binding protein 1 (ERG1 binding protein 1)); NAGA
(N-acetylgalactosaminidase, alpha-); NAIP (Neuronal apoptosis inhibitory
protein); NAPA (N-ethylmaleimide-sensitive factor attachment protein, alpha);
NAPB ); NAPG (N-ethylmaleimide-sensitive factor attachment protein, gamma);
NAT1 (N-acetyltransferase 1 (arylamine N-acetyltransferase)); NAT2
(N-acetyltransferase 2 (arylamine N-acetyltransferase)); NB (Neuroblastoma
(neuroblastoma suppressor)); NCAM1 (Neural cell adhesion molecule 1); NCF1
(Neutrophil cytosolic factor 1 (47kD, chronic granulomatous disease, autosomal
1)); NCF2 (Neutrophil cytosolic factor 2 (65kD, chronic granulomatous disease,
autosomal 2)); NCF4 (Neutrophil cytosolic factor 4 (40kD)); NDP (Norrie disease
(pseudoglioma)); NDUFS2 (NADH dehydrogenase (ubiquinone) Fe-S protein 2 (49kD)
(NADH-coenzyme Q reductase)); NEB (Nebulin); NEU (Neuraminidase); NF1
(Neurofibromin 1 (neurofibromatosis, von Recklinghausen disease, Watson
disease)); NF2 (Neurofibromin 2 (bilateral acoustic neuroma)); NFATC1 (Nuclear
factor of activated T-cells, cytoplasmic 1); NFATC3 (Nuclear factor of
activated T-cells, cytoplasmic 3); NFATC4 (Nuclear factor of activated T-cells,
cytoplasmic 4); NFE2 (Nuclear factor (erythroid-derived 2), 45kD); NFE2L2
(Nuclear factor (erythroid-derived 2)-like 2); NFIL3 (Nuclear factor,
interleukin 3 regulated); NFKB1 (Nuclear factor of kappa light polypeptide gene
enhancer in B-cells 1 (p105)); NFKB2 (Nuclear factor of kappa light polypeptide
gene enhancer in B-cells 2 (p49/p100)); NFKBIA (Nuclear factor of kappa light
polypeptide gene enhancer in B-cells inhibitor, alpha); NFRKB (Nuclear factor
related to kappa B binding protein); NFYA (Nuclear transcription factor Y,
alpha); NGFB (Nerve growth factor, beta polypeptide); NKS1 (Natural killer cell
susceptibility 1); NM (Neutrophil migration); NME1 (Non-metastatic cells 1,
protein (NM23A) expressed in); NMOR2 (NAD(P)H menadione oxidoreductase 2,
dioxin-inducible); NNMT (Nicotinamide N-methyltransferase); NOS1 (Nitric oxide
synthase 1 (neuronal)); NOS2A (Nitric oxide synthase 2A (inducible,
hepatocytes)); NOS2B (Nitric oxide synthase 2B); NOS2C (Nitric oxide synthase
2C); NOS3 (Nitric oxide synthase 3 (endothelial cell)); NOTCH1 (Notch
(Drosophila) homolog 1 (translocation-associated)); NOTCH4 (Notch (Drosophila)
homolog 4); NP (Nucleoside phosphorylase); NPC1 (Niemann-Pick disease, type
C1); NPHP1 (Nephronophthisis 1 (juvenile)); NPY1R (Neuropeptide Y receptor Y1);
NRAMP1 (Natural resistance-associated macrophage protein 1 (might include
Leishmaniasis)); NRAMP2 (Natural resistance-associated macrophage protein 2);
NRAS (Neuroblastoma RAS viral (v-ras) oncogene homolog); NRL (Neural retina leucine
zipper); NT5 (5' nucleotidase (CD73)); NTF3 (Neurotrophin 3); NUCB1
(Nucleobindin 1); NUMA1 (Nuclear mitotic apparatus protein 1); NURR1 (Nuclear
receptor related 1 (transcriptionally inducible)); OA1 (Ocular albinism 1
(Nettleship-Falls)); OAS1 (2',5'-oligoadenylate synthetase 1); OAS2
(2'-5'oligoadenylate synthetase 2); OAT (Ornithine aminotransferase (gyrate
atrophy)); OCRL (Oculocerebrorenal syndrome of Lowe); ODC1 (Ornithine
decarboxylase 1); OGG1 (8-oxoguanine DNA glycosylase); OLFR2 (Olfactory
receptor 2); OMG (Oligodendrocyte myelin glycoprotein); OPA1 (Optic atrophy 1
(autosomal dominant)); OPA3 (Iraqi-Jewish optic atrophy plus
(3-methylglutaconicaciduria type 3)); OPLL ); OPRM1 (Opioid receptor, mu 1);
OPTA2 (Osteopetrosis, autosomal dominant, type II); OPTB1 (Osteopetrosis,
autosomal recessive); OR1D2 (Olfactory receptor, family 1, subfamily D, member
2); ORCTL2 (Beckwith-Wiedemann syndrome chromosome region 1, candidate A;
Organic cation transporter-like 2; Imprinted polyspecific membrane transporter
1); ORM1 (Orosomucoid 1); ORM2 (Orosomucoid 2); OSM (Oncostatin M); OTC
(Ornithine carbamoyltransferase); OXT (Oxytocin, prepro- (neurophysin I)); P (P
blood group globoside); P1 (P blood group (P one antigen)); P2RX1 (Purinergic
receptor P2X, ligand-gated ion channel, 1); P2RY1 (Purinergic receptor P2Y,
G-protein coupled, 1); PA2G4 (Proliferation-associated 2G4, 38kD); PAC1
(Prostate adenocarcinoma-1); PACE (Paired basic amino acid cleaving enzyme
(furin, membrane associated receptor protein)); PAEP (Progestagen-associated
endometrial protein (placental protein 14, pregnancy-associated endometrial
alpha-2-globulin, alpha uterine protein)); PAFAH (Platelet-activating factor
acetylhydrolase); PAFAH1B1 (Platelet-activating factor acetylhydrolase, isoform
Ib, alpha subunit (45kD)); PAFAH1B2 (Platelet-activating factor
acetylhydrolase, isoform Ib, beta subunit (30kD)); PAFAH2 (Platelet-activating
factor acetylhydrolase 2 (40kD)); PAH (Phenylalanine hydroxylase); PAI1
(Plasminogen activator inhibitor, type I); PAPPA (Pregnancy-associated plasma
protein A); PAR4 (Protease-activated receptor-4 PAWR); PRKC, apoptosis, WT1,
regulator); PAX2 (Paired box gene 2); PAX3 (Paired box gene 3 (Waardenburg
syndrome 1)); PAX8 (Paired box gene 8); PCBD (6-pyruvoyl-tetrahydropterin
synthase/dimerization cofactor of hepatocyte nuclear factor 1 alpha (TCF1));
PCCA (Propionyl Coenzyme A carboxylase, alpha polypeptide); PCCB (Propionyl
Coenzyme A carboxylase, beta polypeptide); PCI (Protein C inhibitor
(plasminogen activator inhibitor III)); PCK1 (Phosphoenolpyruvate carboxykinase
1 (soluble)); PCM1 (Pericentriolar material 1); PCNT (Pericentrin); PCTK1
(PCTAIRE protein kinase 1); PCYT2 (Phosphate cytidylyltransferase 2,
ethanolamine); PDB2); PDCD2 (Programmed cell death 2); PDE3B (Phosphodiesterase
3B, cGMP-inhibited); PDE4A (Phosphodiesterase 4A, cAMP-specific (dunce
(Drosophila)-homolog phosphodiesterase E2)); PDE4B (Phosphodiesterase 4B,
cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E4)); PDE7A
(Phosphodiesterase 7A); PDES1B (Phosphodiesterase IB); PDGFA (Platelet-derived
growth factor alpha polypeptide); PDGFB (Platelet-derived growth factor beta
polypeptide (simian sarcoma viral (v-sis) oncogene homolog)); PDGFRA
(Platelet-derived growth factor receptor, alpha polypeptide); PDGFRB
(Platelet-derived growth factor receptor, beta polypeptide); PDHA1 (Pyruvate
dehydrogenase (lipoamide) alpha 1); PDX1 (Pyruvate dehydrogenase complex,
lipoyl-containing component X; E3-binding protein); PECAM1 (Platelet/endothelial
cell adhesion molecule (CD31 antigen)); PEPC (Peptidase C); PEPD (Peptidase D);
PEX10 (Peroxisome biogenesis factor 10); PF4 (Platelet factor 4); PF4V1
(Platelet factor 4 variant 1); PFBI (Plasmodium falciparum blood infection
levels); PFC (Properdin P factor, complement); PFKL (Phosphofructokinase,
liver); PFKM (Phosphofructokinase, muscle); PFKP (Phosphofructokinase,
platelet); PFN1 (Profilin 1); PGA3 (Pepsinogen 3, group I (pepsinogen A)); PGC
(Progastricsin (pepsinogen C)); PGD (Phosphogluconate dehydrogenase); PGF
(Placental growth factor, vascular endothelial growth factor-related protein);
PGK1 (Phosphoglycerate kinase 1); PGK2 (Phosphoglycerate kinase 2); PGL1
(Paraganglioma or familial glomus tumors 1); PGM1 (Phosphoglucomutase 1); PGM3
(Phosphoglucomutase 3); PGP (Phosphoglycolate phosphatase); PGY1 (P
glycoprotein 1/multiple drug resistance 1); PHAP1 (Putative human HLA class II
associated protein I); PHB (Prohibitin); PI (Protease inhibitor 1
(anti-elastase), alpha-1-antitrypsin); PI3 (Protease inhibitor 3, skin-derived
(SKALP)); PI6 (Protease inhibitor 6 (placental thrombin inhibitor)); PI8
(Protease inhibitor 8 (ovalbumin type)); PI9 (Protease inhibitor 9 (ovalbumin
type)); PIGA (Phosphatidylinositol glycan, class A (paroxysmal nocturnal hemoglobinuria));
PIGF (Phosphatidylinositol glycan, class F); PIGR (Polymeric immunoglobulin
receptor); PIK3CA (Phosphoinositide-3-kinase, catalytic, alpha polypeptide);
PIK3CB (Phosphoinositide-3-kinase, catalytic, beta polypeptide); PIK3R1
(Phosphoinositide-3-kinase, regulatory subunit, polypeptide 1 (p85 alpha)); PIL
(Protease inhibitor 1 (alpha-1-antitrypsin)-like); PIN (Dynein, cytoplasmic,
light polypeptide); PKLR (Pyruvate kinase, liver and RBC); PLAGL1 (Pleomorphic
adenoma gene-like 1); PLAT (Plasminogen activator, tissue); PLCD1
(Phospholipase C, delta 1); PLCG1 (Phospholipase C, gamma 1 (formerly subtype
148)); PLEK (Pleckstrin); PLG (Plasminogen); PLOD (Procollagen-lysine,
2-oxoglutarate 5-dioxygenase (lysine hydroxylase, Ehlers-Danlos syndrome type VI));
PLP (Proteolipid protein (Pelizaeus-Merzbacher disease, spastic paraplegia 2,
uncomplicated)); PLT1 (Primed lymphocyte test-1); PML (Promyelocytic leukemia);
PMP22 (Peripheral myelin protein 22); PMS2 (Postmeiotic segregation increased
(S. cerevisiae) 2); PNMT (Phenylethanolamine N-methyltransferase); PNUTL1
(Peanut (Drosophila)-like 1); POLB (Polymerase (DNA directed), beta); POMC
(Proopiomelanocortin (adrenocorticotropin/beta-lipotropin/ alpha-melanocyte
stimulating hormone/beta-melanocyte stimulating hormone/ beta-endorphin)); PON1
(Paraoxonase 1); PON2 (Paraoxonase 2); PORC (Porphyria, acute; Chester type);
POU2AF1 (POU domain, class 2, associating factor 1); POU5F1 (POU domain, class
5, transcription factor 1); PPBP (Pro-platelet basic protein (includes platelet
basic protein, beta-thromboglobulin, connective tissue-activating peptide III,
neutrophil-activating peptide-2)); PPCD (Posterior polymorphous corneal
dystrophy); PPH1 (Primary pulmonary hypertension 1); PPIB (Peptidylprolyl
isomerase B (cyclophilin B)); PPOX (Protoporphyrinogen oxidase); PPP1R8
(Protein phosphatase 1, regulatory (inhibitor) subunit 8); PRB1 (Proline-rich
protein BstNI subfamily 1); PRB2 (Proline-rich protein BstNI subfamily 2); PRB3
(Proline-rich protein BstNI subfamily 3); PRB4 (Proline-rich protein BstNI
subfamily 4); PREP (Prolyl endopeptidase); PRF1 (Perforin 1 (preforming
protein)); PRG1 (Proteoglycan 1, secretory granule); PRH1 (Proline-rich protein
HaeIII subfamily 1); PRH2 (Proline-rich protein HaeIII subfamily 2); PRKCQ
(Protein kinase C, theta); PRKDC (Protein kinase, DNA-activated, catalytic
polypeptide); PRKG1 (Protein kinase, cGMP-dependent, type I); PRKM10 (Protein
kinase mitogen-activated 10 (MAP kinase)); PRKM9 (Protein kinase
mitogen-activated 9 (MAP kinase)); PRL (Prolactin); PRLR (Prolactin receptor);
PRNP (Prion protein (p27-30) (Creutzfeld-Jakob disease,
Gerstmann-Strausler-Scheinker syndrome, fatal familial insomnia)); PROC
(Protein C (inactivator of coagulation factors Va and VIIIa) ); PROP1 (Prophet
of Pit1, paired-like homeodomain transcription factor); PROS1 (Protein S
(alpha)); PRPH (Peripherin); PRSS1 (Protease, serine, 1 (trypsin 1)); PRSS2
(Protease, serine, 2 (trypsin 2)); PRSS7 (Protease, serine, 7 (enterokinase));
PRSS8 (Protease, serine, 8 (prostasin)); PRTN3 (Proteinase 3 (serine
proteinase, neutrophil, Wegener granulomatosis autoantigen)); PSAP (Prosaposin
(variant Gaucher disease and variant metachromatic leukodystrophy)); PSD
(Pleckstrin and Sec7 domain protein); PSMB8 (Proteasome (prosome, macropain)
subunit, beta type, 8 (large multifunctional protease 7)); PSORS1 (Psoriasis
susceptibility 1); PSORS2 (Psoriasis susceptibility 2); PSORS3 (Psoriasis
susceptibility 3); PTAFR (Platelet-activating factor receptor); PTC
(Phenylthiocarbamide tasting); PTCH (Patched (Drosophila) homolog); PTEN
(Phosphatase and tensin homolog (mutated in multiple advanced cancers 1));
PTGDS (Prostaglandin D2 synthase (21kD, brain)); PTGER3 (Prostaglandin E
receptor 3 (subtype EP3)); PTGIR (Prostaglandin I2 (prostacyclin) receptor
(IP)); PTGS1 (Prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase
and cyclooxygenase)); PTGS2 (Prostaglandin-endoperoxide synthase 2
(prostaglandin G/H synthase and cyclooxygenase)); PTK2B (Protein tyrosine
kinase 2 beta); PTN (Pleiotrophin (heparin binding growth factor 8, neurite
growth-promoting factor 1)); PTPN13 (Protein tyrosine phosphatase, non-receptor
type 13 (APO-1/CD95 (Fas)-associated phosphatase)); PTPN6 (Protein tyrosine
phosphatase, non-receptor type 6); PTPRC (Protein tyrosine phosphatase,
receptor type, c polypeptide); PTPRCAP (Protein tyrosine phosphatase, receptor
type, c polypeptide-associated protein); PTPRD (Protein tyrosine phosphatase,
receptor type, D); PTPRF (Protein tyrosine phosphatase, receptor type, F); PTPRG
(Protein tyrosine phosphatase, receptor type, gamma polypeptide); PTX3
(Pentaxin-related gene, rapidly induced by IL-1 beta PUJO ); PVR (Poliovirus
receptor); PVRL1 (Poliovirus receptor-like 1); PVRL2 (Poliovirus receptor-like
2); PXE (Pseudoxanthoma elasticum); PXMP1 (Peroxisomal membrane protein 1
(70kD, Zellweger syndrome)); PXN (Paxillin); PYCR1 (Pyrroline-5-carboxylate
reductase 1); PYGM (Phosphorylase, glycogen; muscle (McArdle syndrome, glycogen
storage disease type V)); QDPR (Quinoid dihydropteridine reductase); RAC2
(Ras-related C3 botulinum toxin substrate 2 (rho family, small GTP binding
protein Rac2)); RAC3 (Ras-related C3 botulinum toxin substrate 3 (rho family,
small GTP binding protein Rac3)); RAD17 (RAD17 (S. pombe) homolog); RAD51L3 (RAD51
(S. cerevisiae)-like 3); RAF1 (V-raf-1 murine leukemia viral oncogene homolog
1); RAG1 (Recombination activating gene 1); RAG2 (Recombination activating gene
2); RANBP3 (RAN binding protein 3); RAP1A (RAP1A, member of RAS oncogene
family); RB1 (Retinoblastoma 1 (including osteosarcoma)); RBP4 (Retinol-binding
protein 4, interstitial); RBS (Roberts syndrome); RCN2 (Reticulocalbin 2,
EF-hand calcium binding domain); RCP (Red cone pigment (color blindness,
protan)); RCV1 (Recoverin); RDBP (RD RNA-binding protein); RDS (Retinal
degeneration, slow (retinitis pigmentosa 7)); RELA (V-rel avian
reticuloendotheliosis viral oncogene homolog A (nuclear factor of kappa light
polypeptide gene enhancer in B-cells 3 (p65))); REN (Renin); RENBP
(Renin-binding protein); REQ (Requiem, apoptosis response zinc finger gene);
RFX1 (Regulatory factor X, 1 (influences HLA class II expression)); RFX2
(Regulatory factor X, 2 (influences HLA class II expression)); RFX3 (Regulatory
factor X, 3 (influences HLA class II expression)); RFX4 (Regulatory factor X, 4
(influences HLA class II expression)); RFX5 (Regulatory factor X, 5 (influences
HLA class II expression)); RFXAP (Regulatory factor X-associated protein); RGS2
(Regulator of G-protein signalling 2, 24kD); RHCE (Rhesus blood group, CcEe
antigens); RHD (Rhesus blood group, D antigen); RHO (Rhodopsin (retinitis
pigmentosa 4, autosomal dominant)); RMSA1 (Regulator of mitotic spindle
assembly 1); RN5S1@ (RNA, 5S cluster 1); RNR1 (RNA, ribosomal 1); RNU1A (RNA,
U1A small nuclear); RNU2 (RNA, U2 small nuclear); ROM1 (Retinal outer segment
membrane protein 1); RP2 (Retinitis pigmentosa 2 (X-linked recessive)); RPE65
(Retinal pigment epithelium-specific protein (65kD)); RPL7A (Ribosomal protein
L7a); RPS4X (Ribosomal protein S4, X-linked); RRAD (Ras-related associated with
diabetes); RRM1 (Ribonucleotide reductase M1 polypeptide); RSN (Restin
(Reed-Steinberg cell-expressed intermediate filament-associated protein)); RTS
(Rothmund-Thomson syndrome); RXRB (Retinoid X receptor, beta); RYR1 (Ryanodine
receptor 1 (skeletal)); S100A4 (S100 calcium-binding protein A4 (calcium
protein, calvasculin, metastasin, murine placental homolog)); S100A7 (S100
calcium-binding protein A7 (psoriasin 1)); S100A8 (S100 calcium-binding protein
A8 (calgranulin A)); SAA1 (Serum amyloid A1); SAG (S-antigen; retina and pineal
gland (arrestin)); SAR1 (RasGAP-like with IQ motifs); SCLC1); SCN1B (Sodium
channel, voltage-gated, type I, beta polypeptide); SCN4A (Sodium channel,
voltage-gated, type IV, alpha polypeptide); SCN5A (Sodium channel,
voltage-gated, type V, alpha polypeptide (long (electrocardiographic) QT
syndrome 3)); SCNN1G (Sodium channel, nonvoltage-gated 1, gamma); SCYA1 (Small
inducible cytokine A1 (I-309, homologous to mouse Tca-3)); SCYA11 (Small inducible
cytokine subfamily A (Cys-Cys), member 11 (eotaxin)); SCYA13 (Small inducible
cytokine subfamily A (Cys-Cys), member 13); SCYA14 (Small inducible cytokine
subfamily A (Cys-Cys), member 14); SCYA15 (Small inducible cytokine subfamily A
(Cys-Cys), member 15); SCYA16 (Small inducible cytokine subfamily A (Cys-Cys),
member 16); SCYA17 (Small inducible cytokine subfamily A (Cys-Cys), member 17);
SCYA18 (Small inducible cytokine subfamily A (Cys-Cys), member 18, pulmonary
and activation-regulated); SCYA19 (Small inducible cytokine subfamily A
(Cys-Cys), member 19); SCYA2 (Small inducible cytokine A2 (monocyte chemotactic
protein 1, homologous to mouse Sig-je)); SCYA20 (Small inducible cytokine
subfamily A (Cys-Cys), member 20); SCYA21 (Small inducible cytokine subfamily A
(Cys-Cys), member 21); SCYA22 (Small inducible cytokine subfamily A (Cys-Cys),
member 22); SCYA23 (Small inducible cytokine subfamily A (Cys-Cys), member 23);
SCYA24 (Small inducible cytokine subfamily A (Cys-Cys), member 24); SCYA25
(Small inducible cytokine subfamily A (Cys-Cys), member 25); SCYA3 (Small
inducible cytokine A3 (homologous to mouse Mip-1a)); SCYA3L1 (Small inducible
cytokine A3-like 1); SCYA4 (Small inducible cytokine A4 (homologous to mouse
Mip-1b)); SCYA5 (Small inducible cytokine A5 (RANTES)); SCYA7 (Small inducible
cytokine A7 (monocyte chemotactic protein 3)); SCYA8 (Small inducible cytokine
subfamily A (Cys-Cys), member 8 (monocyte chemotactic protein 2)); SCYB5 (Small
inducible cytokine subfamily B (Cys-X-Cys), member 5 (epithelial-derived
neutrophil-activating peptide 78)); SCYB6 (Small inducible cytokine subfamily B
(Cys-X-Cys), member 6 (granulocyte chemotactic protein 2)); SCYC1 (Small
inducible cytokine subfamily C, member 1 (lymphotactin)); SCYD1 (Small
inducible cytokine subfamily D (Cys-X3-Cys), member 1 (fractalkine,
neurotactin)); SDF1 (Stromal cell-derived factor 1); SDHC (Succinate
dehydrogenase complex, subunit C, integral membrane protein, 15kD); SELE
(Selectin E (endothelial adhesion molecule 1)); SELL (Selectin L (lymphocyte
adhesion molecule 1)); SELP (Selectin P (granule membrane protein 140kD,
antigen CD62)); SELPLG (Selectin P ligand); SERK1 (SAPK/Erk kinase 1); SF
(Stoltzfus blood group); SFTPA1 (Surfactant, pulmonary-associated protein A1);
SFTPA2 (Surfactant, pulmonary-associated protein A2); SFTPB (Surfactant,
pulmonary-associated protein B); SFTPD (Surfactant, pulmonary-associated
protein D); SGCB (Sarcoglycan, beta (43kD dystrophin-associated glycoprotein));
SGCD (Sarcoglycan, delta (35kD dystrophin-associated glycoprotein)); SGSH
(N-sulfoglucosamine sulfohydrolase (sulfamidase)); SH2D1A (SH2 domain protein
1A, Duncan's disease (lymphoproliferative syndrome)); SHH (Sonic hedgehog
(Drosophila) homolog); SHMT2 (Serine hydroxymethyltransferase 2 (mitochondrial));
SHOX (Short stature homeobox); SIAH1 (Seven in absentia (Drosophila) homolog
1); SIPA1 (Signal-induced proliferation-associated gene 1); SKIV2L (Superkiller
viralicidic activity 2 (S. cerevisiae homolog)-like); SLC12A1 (Solute carrier
family 12 (sodium/potassium/chloride transporters), member 1); SLC14A1 (Solute
carrier family 14 (urea transporter), member 1 (Kidd blood group)); SLC18A2
(Solute carrier family 18 (vesicular monoamine), member 2); SLC1A5 (Solute
carrier family 1 (neutral amino acid transporter), member 5); SLC20A1 (Solute
carrier family 20 (phosphate transporter), member 1); SLC20A2 (Solute carrier
family 20 (phosphate transporter), member 2); SLC2A1 (Solute carrier family 2
(facilitated glucose transporter), member 1); SLC2A2 (Solute carrier family 2
(facilitated glucose transporter), member 2); SLC2A4 (Solute carrier family 2
(facilitated glucose transporter), member 4); SLC3A1 (Solute carrier family 3
(cystine, dibasic and neutral amino acid transporters, activator of cystine,
dibasic and neutral amino acid transport), member 1); SLC4A1 (Solute carrier
family 4, anion exchanger, member 1 (erythrocyte membrane protein band 3, Diego
blood group) ); SLC5A5 (Solute carrier family 5 (sodium iodide symporter),
member 5); SLC6A2 (Solute carrier family 6 (neurotransmitter transporter,
noradrenalin), member 2); SLC6A3 (Solute carrier family 6 (neurotransmitter
transporter, dopamine), member 3); SLC6A4 (Solute carrier family 6
(neurotransmitter transporter, serotonin), member 4); SLC7A7 (Solute carrier
family 7 (cationic amino acid transporter, y+ system), member 7); SLC9A1
(Solute carrier family 9 (sodium/hydrogen exchanger), isoform 1 (antiporter,
Na+/H+, amiloride sensitive)); SLEB1 (Systemic lupus erythematosus
susceptibility 1); SLPI (Secretory leukocyte protease inhibitor
(antileukoproteinase)); SM1 (Schistosoma mansoni, susceptibility/resistance
to); SMN1 (Survival of motor neuron 1, telomeric); SNAP23
(Synaptosomal-associated protein, 23kD); SNCG (Synuclein, gamma (breast
cancer-specific protein 1)); SNRP70 (Small nuclear ribonucleoprotein 70kD
polypeptide (RNP antigen)); SNRPB (Small nuclear ribonucleoprotein polypeptides
B and B1); SNRPN (Small nuclear ribonucleoprotein polypeptide N); SOAT1 (Sterol
O-acyltransferase (acyl-Coenzyme A: cholesterol acyltransferase) 1); SOD1
(Superoxide dismutase 1, soluble (amyotrophic lateral sclerosis 1 (adult)));
SOD2 (Superoxide dismutase 2, mitochondrial); SORL1 (Sortilin-related receptor,
L(DLR class) A repeats-containing); SOX10 (SRY (sex-determining region Y)-box
10); SOX4 (SRY (sex determining region Y)-box 4); SPG3A (Spastic paraplegia 3A
(autosomal dominant)); SPN (Sialophorin (gpL115, leukosialin, CD43)); SPN
(Sialophorin (gpL115, leukosialin, CD43)); SPP1 (Secreted phosphoprotein 1
(osteopontin, bone sialoprotein I, early T-lymphocyte activation 1)); SPTA1
(Spectrin, alpha, erythrocytic 1 (elliptocytosis 2)); SRD5A2
(Steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta
4-dehydrogenase alpha 2)); SSA2 (Sjogren syndrome antigen A2 (60kD,
ribonucleoprotein autoantigen SS-A/Ro)); SSB (Sjogren syndrome antigen B
(autoantigen La)); SSTR1 (Somatostatin receptor 1); ST3 (Suppression of
tumorigenicity 3); STAM (Signal transducing adaptor molecule (SH3 domain and
ITAM motif) 1); STAT1 (Signal transducer and activator of transcription 1,
91kD); STAT2 (Signal transducer and activator of transcription 2, 113kD); STAT3
(Signal transducer and activator of transcription 3 (acute-phase response
factor)); STAT4 (Signal transducer and activator of transcription 4); STAT5A
(Signal transducer and activator of transcription 5A); STAT6 (Signal transducer
and activator of transcription 6, interleukin-4 induced); STATH (Statherin);
STATI2 (STAT induced STAT inhibitor-2); STX1B (Syntaxin 1B); SULT1A1 (Sulfotransferase
family 1A, phenol-preferring, member 1); SULT1A3 (Sulfotransferase family 1A,
phenol-preferring, member 3); SULT2A1 (Sulfotransferase family 2A,
dehydroepiandrosterone (DHEA) -preferring, member 1); SUOX (Sulfite oxidase);
SUR (Sulfonylurea receptor (hyperinsulinemia)); SURF1 (Surfeit 1); SW (Swann
blood group); T (T brachyury (mouse) homolog); TAP1 (Transporter 1, ABC (ATP
binding cassette)); TAP2 (Transporter 2, ABC (ATP binding cassette)); TAT
(Tyrosine aminotransferase); TAZ (Tafazzin (cardiomyopathy, dilated 3A
(X-linked), endocardial fibroelastosis 2; Barth syndrome)); TBG
(Thyroxin-binding globulin); TBP (TATA box binding protein); TBX2 (T-box 2);
TBXA2R (Thromboxane A2 receptor); TBXAS1 (Thromboxane A synthase 1 (platelet,
cytochrome P450, subfamily V)); TCF1 (Transcription factor 1, hepatic; LF-B1,
hepatic nuclear factor (HNF1), albumin proximal factor); TCF19 (Transcription
factor 19 (SC1)); TCF3 (Transcription factor 3 (E2A immunoglobulin enhancer
binding factors E12/E47)); TCF7 (Transcription factor 7 (T-cell specific,
HMG-box)); TCF8 (Transcription factor 8 (represses interleukin 2 expression));
TCL1A (T-cell leukemia/lymphoma 1A); TCL4 (T-cell leukemia/lymphoma 4); TCN1
(Transcobalamin I (vitamin B12 binding protein, R binder family)); TCN2
(Transcobalamin II; macrocytic anemia); TCP1 (T-complex 1); TCRA (T-cell
receptor, alpha (V,D,J,C)); TCRB (T-cell receptor, beta cluster); TCRB (T-cell
receptor, beta cluster); TCRG (T-cell receptor, gamma cluster); TCTE1
(T-complex-associated-testis-expressed 1); TDO2 (Tryptophan 2,3-dioxygenase);
TECTA (Tectorin alpha); TERF2 (Telomeric repeat binding factor 2); TF
(Transferrin); TFF2 (Trefoil factor 2 (spasmolytic protein 1)); TFPI (Tissue
factor pathway inhibitor (lipoprotein-associated coagulation inhibitor)); TFPI2
(Tissue factor pathway inhibitor-2); TFRC (Transferrin receptor (p90, CD71));
TG (Thyroglobulin); TGFB1 (Transforming growth factor, beta 1); TGFB2
(Transforming growth factor, beta 2); TGFB3 (Transforming growth factor, beta
3); TGFBI (Transforming growth factor, beta-induced, 68kD); TGFBR3
(Transforming growth factor, beta receptor III (betaglycan, 300kD)); TGM1
(Transglutaminase 1 (K polypeptide epidermal type I,
protein-glutamine-gamma-glutamyltransferase)); TGM2 (Transglutaminase 2 (C
polypeptide, protein-glutamine-gamma-glutamyltransferase)); TH (Tyrosine
hydroxylase); THBS1 (Thrombospondin 1); THBS2 (Thrombospondin 2); THPO
(Thrombopoietin (myeloproliferative leukemia virus oncogene ligand,
megakaryocyte growth and development factor)); THRA (Thyroid hormone receptor,
alpha (avian erythroblastic leukemia viral (v-erb-a) oncogene homolog)); THRB
(Thyroid hormone receptor, beta (avian erythroblastic leukemia viral (v-erb-a)
oncogene homolog 2)); THY1 (Thy-1 cell surface antigen); TIEG (TGFB inducible
early growth response); TIMP3 (Tissue inhibitor of metalloproteinase 3 (Sorsby
fundus dystrophy, pseudoinflammatory)); TK1 (Thymidine kinase 1, soluble); TKT
(Transketolase (Wernicke-Korsakoff syndrome)); TLR1 (Toll-like receptor 1);
TLR2 (Toll-like receptor 2); TLR3 (Toll-like receptor 3); TLR4 (Toll-like
receptor 4); TLR5 (Toll-like receptor 5); TM4SF7 (Transmembrane 4 superfamily
member 7); TMEM1 (Transmembrane protein 1); TNF (Tumor necrosis factor (TNF
superfamily, member 2)); TNFAIP2 (Tumor necrosis factor, alpha-induced protein
2); TNFAIP6 (Tumor necrosis factor, alpha-induced protein 6); TNFRSF11B (Tumor
necrosis factor receptor superfamily, member 11b (osteoprotegerin)); TNFRSF12
(Tumor necrosis factor receptor superfamily, member 12 (translocating
chain-association membrane protein)); TNFRSF14 (Tumor necrosis factor receptor
superfamily, member 14 (herpesvirus entry mediator)); TNFRSF17 (Tumor necrosis
factor receptor superfamily, member 17); TNFRSF1A (Tumor necrosis factor receptor
superfamily, member 1A); TNFRSF1B (Tumor necrosis factor receptor superfamily,
member 1B); TNFRSF5 (Tumor necrosis factor receptor superfamily, member 5);
TNFRSF6 (Tumor necrosis factor receptor superfamily, member 6); TNFRSF6B (Tumor
necrosis factor receptor superfamily, member 6b, decoy); TNFRSF7 (Tumor
necrosis factor receptor superfamily, member 7); TNFRSF9 (Tumor necrosis factor
receptor superfamily, member 9); TNFSF11 (Tumor necrosis factor (ligand)
superfamily, member 11); TNFSF12 (Tumor necrosis factor (ligand) superfamily,
member 12); TNFSF14 (Tumor necrosis factor (ligand) superfamily, member 14);
TNFSF5 (Tumor necrosis factor (ligand) superfamily, member 5); TNFSF6 (Tumor
necrosis factor (ligand) superfamily, member 6); TNNT2 (Troponin T2, cardiac);
TP53 (Tumor protein p53 (Li-Fraumeni syndrome)); TP73 (Tumor protein p73); TPH
(Tryptophan hydroxylase (tryptophan 5-monooxygenase)); TPI1 (Triosephosphate
isomerase 1); TPM1 (Tropomyosin 1 (alpha)); TPMT (Thiopurine
S-methyltransferase); TPO (Thyroid peroxidase); TPT1 (Tumor protein,
translationally-controlled 1); TRAF1 (TNF receptor-associated factor 1); TRAF1
(TNF receptor-associated factor 1); TRAF2 (TNF receptor-associated factor 2);
TRAF3 (TNF receptor-associated factor 3); TRAF4 (TNF receptor-associated factor
4); TRAF5 (TNF receptor-associated factor 5); TRAF6 (TNF receptor-associated
factor 6); TRP1 (TRNA proline 1); TSHB (Thyroid stimulating hormone, beta);
TSHR (Thyroid stimulating hormone receptor); TSSC3 (Tumor suppressing
subtransferable candidate 3); TST (Thiosulfate sulfurtransferase (rhodanese));
TSTA3 (Tissue specific transplantation antigen P35B); TTIM1 (T-cell tumor
invasion and metastasis 1); TTR (Transthyretin (prealbumin, amyloidosis type
I)); TUB (Tubby (mouse) homolog); TUBA3 (Tubulin, alpha, brain-specific);
TUBAL1 (Tubulin, alpha-like 1); TUBB (Tubulin, beta polypeptide); TWIST (Twist
(Drosophila) homolog); TXN (Thioredoxin); U2AF1 (U2(RNU2) small nuclear RNA
auxillary factor 1 (non-standard symbol)); UBC (Ubiquitin C); UBE1
(Ubiquitin-activating enzyme E1 (A1S9T and BN75 temperature sensitivity
complementing)); UBE2B (Ubiquitin-conjugating enzyme E2B (RAD6 homolog)); UBE2I
(Ubiquitin-conjugating enzyme E2I (homologous to yeast UBC9)); UBE2V2
(Ubiquitin-conjugating enzyme E2 variant 2); UBE3A (Ubiquitin protein ligase
E3A (human papilloma virus E6-associated protein, Angelman syndrome)); UBL1
(Ubiquitin-like 1 (sentrin)); UCP2 (Uncoupling protein 2 (mitochondrial, proton
carrier)); UCP3 (Uncoupling protein 3 (mitochondrial, proton carrier)); UFS
(Urofacial syndrome); UGB (Uteroglobin); UGDH (UDP-glucose dehydrogenase); UGT1
(UDP glycosyltransferase 1); UMPK (Uridine monophosphate kinase); UMPS (Uridine
monophosphate synthetase (orotate phosphoribosyl transferase and); orotidine-5'-decarboxylase));
UP (Uridine phosphorylase); UPK1B (Uroplakin 1B); UROD (Uroporphyrinogen
decarboxylase); UROS (Uroporphyrinogen III synthase (congenital erythropoietic
porphyria)); USH2A (Usher syndrome 2A (autosomal recessive, mild)); USP7
(Ubiquitin specific protease 7 (herpes virus-associated)); VASP
(Vasodilator-stimulated phosphoprotein); VCAM1 (Vascular cell adhesion molecule
1); VDAC1 (Voltage-dependent anion channel 1); VDR (Vitamin D (1,25-
dihydroxyvitamin D3) receptor); VHL (Von Hippel-Lindau syndrome); VMD2
(Vitelliform macular dystrophy (Best disease, bestrophin)); VPREB1 (Pre-B
lymphocyte gene 1 (non-standard provisional symbol)); VPREB2 (Pre-B
lymphocyte-specific protein-2); VSD1 (Ventricular septal defect 1); VTN
(Vitronectin (serum spreading factor, somatomedin B, complement S-protein));
VWF (Von Willebrand factor); WAS (Wiskott-Aldrich syndrome
(ecezema-thrombocytopenia)); WEE1 (Wee1+ (S. pombe) homolog); WFS (Wolfram
syndrome); WT1 (Wilms tumor 1); WT3 (Wilms tumor-3); WWS (Wieacker-Wolff
syndrome); XBP1 (X-box binding protein 1); XG (Xg blood group (pseudoautosomal
boundary-divided on the X chromosome)); XGR (Expression of XG and MIC2 on
erythrocytes); XK (Kell blood group precursor (McLeod phenotype)); XPA
(Xeroderma pigmentosum, complementation group A); XPC (Xeroderma pigmentosum,
complementation group C); XPNPEPL (X-prolyl aminopeptidase (aminopeptidase
P)-like); XRCC1 (X-ray repair complementing defective repair in Chinese hamster
cells 1); XRCC2 (X-ray repair complementing defective repair in Chinese hamster
cells 2); XRCC3 (X-ray repair complementing defective repair in Chinese hamster
cells 3); YB1 (Major histocompatibility complex, class II, Y box-binding
protein I; DNA-binding protein B); ZFP161 (Zinc finger protein homologous to
Zfp161 in mouse); ZFP36 (Zinc finger protein homologous to Zfp-36 in mouse);
ZFY (Zinc finger protein, Y-linked); ZNF121 (Zinc finger protein 121 (clone
ZHC32)); ZRK (Zona pellucida receptor tyrosine kinase, 95kD);
【０１１７】
代謝
ACAT1 (Acetyl-Coenzyme A acetyltransferase 1 (acetoacetyl Coenzyme A
thiolase); ACAT2 (Acetyl-Coenzyme A acetyltransferase 2 (acetoacetyl Coenzyme A
thiolase); ACATN (Acetyl-Coenzyme A transporter; BCAT1 (Branched chain
aminotransferase 1, cytosolic; CRAT (Carnitine acetyltransferase; DIA4
(Diaphorase (NADH/NADPH) (cytochrome b-5 reductase); DUSP2 (Dual specificity
phosphatase 2; EPHX1 (Epoxide hydrolase 1, microsomal (xenobiotic); EPHX2
(Epoxide hydrolase 2, cytoplasmic; GATM (Glycine amidinotransferase
(L-arginine:glycine amidinotransferase); GJA4 (Gap junction protein, alpha 4,
37kD (connexin 37); HADHSC (L-3-hydroxyacyl-Coenzyme A dehydrogenase, short
chain; HK1 (Hexokinase 1; HK3 (Hexokinase 3 (white cell); HMBS
(Hydroxymethylbilane synthase; IARS (Isoleucine-tRNA synthetase; NAT1
(N-acetyltransferase 1 (arylamine N-acetyltransferase); OAT (Ornithine
aminotransferase (gyrate atrophy); OTC (Ornithine carbamoyltransferase; PCCA
(Propionyl Coenzyme A carboxylase, alpha polypeptide; PCCB (Propionyl Coenzyme
A carboxylase, beta polypeptide; PDHA1 (Pyruvate dehydrogenase (lipoamide)
alpha 1; QDPR (Quinoid dihydropteridine reductase; SGSH (N-sulfoglucosamine
sulfohydrolase (sulfamidase); SHBG (Sex hormone-binding globulin; SHMT2 (Serine
hydroxymethyltransferase 2 (mitochondrial); SLC7A1 (Solute carrier family 7
(cationic amino acid transporter, y+ system), member 1; SLC7A2 (Solute carrier
family 7 (cationic amino acid transporter, y+ system), member 2; SLC7A4 (Solute
carrier family 7 (cationic amino acid transporter, y+ system), member 4; SOAT1
(Sterol O-acyltransferase (acyl-Coenzyme A: cholesterol acyltransferase) 1;
SOAT2 (Sterol O-acyltransferase 2; SORD (Sorbitol dehydrogenase; TPI1
(Triosephosphate isomerase 1; TYMS (Thymidylate synthetase; TYR (Tyrosinase
(oculocutaneous albinism IA); TYRP1 (Tyrosinase-related protein 1; UGT2B17 (UDP
glycosyltransferase 2 family, polypeptide B17; UGT2B7 (UDP glycosyltransferase
2 family, polypeptide B7; UGTREL1 (UDP-galactose transporter related;
【０１１８】
転移
ACTG1 (Actin, gamma 1); ADD3 (Adducin 3 (gamma)); ALCAM (Activated
leucocyte cell adhesion molecule); ANK1 (Ankyrin 1, erythrocytic); ANPEP
(Alanyl (membrane) aminopeptidase (aminopeptidase N, aminopeptidase M,
microsomal aminopeptidase, CD13, p150)); BTN (Butyrophilin); CD14 (CD14
antigen); CD19 (CD19 antigen); CD1D (CD1D antigen, d polypeptide); CD2 (CD2
antigen (p50), sheep red blood cell receptor); CD20 (CD20 antigen); CD22 (CD22
antigen); CD33 (CD33 antigen (gp67)); CD34 (CD34 antigen); CD37 (CD37 antigen);
CD38 (CD38 antigen (p45)); CD39 (CD39 antigen); CD4 (CD4 antigen (p55)); CD44
(CD44 antigen (homing function and Indian blood group system)); CD47 (CD47
antigen (Rh-related antigen, integrin-associated signal transducer)); CD48
(CD48 antigen (B-cell membrane protein)); CD53 (CD53 antigen); CD58 (CD58
antigen, (lymphocyte function-associated antigen 3)); CD59 (CD59 antigen p18-20
(antigen identified by monoclonal antibodies 16.3A5, EJ16, EJ30, EL32 and
G344)); CD63 (CD63 antigen (melanoma 1 antigen)); CD68 (CD68 antigen); CD7 (CD7
antigen (p41)); CD72 (CD72 antigen); CD8A (CD8 antigen, alpha polypeptide
(p32)); CD9 (CD9 antigen (p24)); CD97 (CD97 antigen); CDH13 (Cadherin 13,
H-cadherin (heart)); CDH17 (Cadherin 17, LI cadherin (liver-intestine)); CDH2
(Cadherin 2, N-cadherin (neuronal)); CDH4 (Cadherin 4, R-cadherin (retinal));
CDH5 (Cadherin 5, VE-cadherin (vascular epithelium)); CDW52 (CDW52 antigen
(CAMPATH-1 antigen)); CLTB (Clathrin, light polypeptide (Lcb)); DAF (Decay
accelerating factor for complement (CD55, Cromer blood group system)); DPP4
(Dipeptidylpeptidase IV (CD26, adenosine deaminase complexing protein 2)); ENG
(Endoglin (Osler-Rendu-Weber syndrome 1)); F3 (Coagulation factor III
(thromboplastin, tissue factor)); FAP (Fibroblast activation protein, alpha);
FAT (FAT tumor suppressor (Drosophila) homolog); FLNA (Filamin A, alpha
(actin-binding protein-280)); FN1 (Fibronectin 1); GJA4 (Gap junction protein,
alpha 4, 37kD (connexin 37)); HMMR (Hyaluronan-mediated motility receptor
(RHAMM)); ICAM1 (Intercellular adhesion molecule 1 (CD54), human rhinovirus
receptor); ICAM2 (Intercellular adhesion molecule 2); ICAM3 (Intercellular
adhesion molecule 3); ITGA2 (Integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2
receptor)); ITGA3 (Integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor));
ITGA4 (Integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor));
ITGA5 (Integrin, alpha 5 (fibronectin receptor, alpha polypeptide)); ITGA6
(Integrin, alpha 6); ITGA7 (Integrin, alpha 7); ITGA9 (Integrin, alpha 9);
ITGAE (Integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1;
alpha polypeptide)); ITGAL (Integrin, alpha L (antigen CD11A (p180), lymphocyte
function-associated antigen 1; alpha polypeptide)); ITGAM (Integrin, alpha M
(complement component receptor 3, alpha; also known as CD11b (p170), macrophage
antigen alpha polypeptide)); ITGAV (Integrin, alpha V (vitronectin receptor,
alpha polypeptide, antigen CD51)); ITGAX (Integrin, alpha X (antigen CD11C
(p150), alpha polypeptide)); ITGB1 (Integrin, beta 1 (fibronectin receptor,
beta polypeptide, antigen CD29 includes MDF2, MSK12)); ITGB2 (Integrin, beta 2
(antigen CD18 (p95), lymphocyte function-associated antigen 1; macrophage
antigen 1 (mac-1) beta subunit)); ITGB3 (Integrin, beta 3 (platelet
glycoprotein IIIa, antigen CD61)); ITGB4 (Integrin, beta 4); ITGB5 (Integrin,
beta 5); ITGB7 (Integrin, beta 7); ITGB8 (Integrin, beta 8); JAG1 (Jagged1
(Alagille syndrome)); JAG2 (Jagged 2); KAI1 (Kangai 1 (suppression of
tumorigenicity 6, prostate; CD82 antigen (R2 leukocyte antigen, antigen
detected by monoclonal and antibody IA4))); KPNB1 (Karyopherin (importin) beta
1); LAG3 (Lymphocyte-activation gene 3); LY64 (Lymphocyte antigen 64 (mouse)
homolog, radioprotective, 105kD); LYZ (Lysozyme (renal amyloidosis)); MAP1B
(Microtubule-associated protein 1B); MDU1 (Antigen identified by monoclonal
antibodies 4F2, TRA1.10, TROP4, and T43); MIC2 (Antigen identified by
monoclonal antibodies 12E7, F21 and O13); MICA (MHC class I polypeptide-related
sequence A); MME (Membrane metallo-endopeptidase (neutral endopeptidase,
enkephalinase, CALLA, CD10)); MYL2 (Myosin, light polypeptide 2, regulatory,
cardiac, slow); MYL3 (Myosin, light polypeptide 3, alkali; ventricular,
skeletal, slow); NCAM1 (Neural cell adhesion molecule 1); NEO1 (Neogenin
(chicken) homolog 1); NME3 (Non-metastatic cells 3, protein expressed in);
PCDH1 (Protocadherin 1 (cadherin-like 1)); PDNP1 (Phosphodiesterase
I/nucleotide pyrophosphatase 1 (homologous to mouse Ly-41 antigen)); PECAM1
(Platelet/endothelial cell adhesion molecule (CD31 antigen)); PKD1 (Polycystic
kidney disease 1 (autosomal dominant)); PTCH (Patched (Drosophila) homolog);
RSN (Restin (Reed-Steinberg cell-expressed intermediate filament-associated
protein)); RTN1 (Reticulon 1); SDC1 (Syndecan 1); SDC2 (Syndecan 2 (heparan
sulfate proteoglycan 1, cell surface-associated, fibroglycan)); SDC4 (Syndecan
4 (amphiglycan, ryudocan)); SELE (Selectin E (endothelial adhesion molecule
1)); SELL (Selectin L (lymphocyte adhesion molecule 1)); SELP (Selectin P
(granule membrane protein 140kD, antigen CD62)); SELPLG (Selectin P ligand);
SIAT1 (Sialyltransferase 1 (beta-galactoside alpha-2,6-sialytransferase)); SLAM
(Signaling lymphocytic activation molecule); SPTA1 (Spectrin, alpha,
erythrocytic 1 (elliptocytosis 2)); SPTB (Spectrin, beta, erythrocytic
(includes sperocytosis, clinical type I)); ST2 (Suppression of tumorigenicity
2); TBCC (Tubulin-specific chaperone c); THBS1 (Thrombospondin 1); TM4SF2
(Transmembrane 4 superfamily member 2); TM4SF3 (Transmembrane 4 superfamily
member 3); TNFSF4 (Tumor necrosis factor (ligand) superfamily, member 4
(tax-transcriptionally activated glycoprotein 1, 34kD)); TNFSF5 (Tumor necrosis
factor (ligand) superfamily, member 5); TNFSF7 (Tumor necrosis factor (ligand)
superfamily, member 7); TTN (Titin); TUBA1 (Tubulin, alpha 1 (testis
specific)); TUBG (Tubulin, gamma polypeptide); VCAM1 (Vascular cell adhesion
molecule 1); VCL (Vinculin); VIM (Vimentin);
【０１１９】
その他（Miscellaneous）
AREG (Amphiregulin (schwannoma-derived growth factor)); BCGF1
(B-cell growth factor 1 (12kD)); CTGF (Connective tissue growth factor); CTGF-L
(Connective tissue growth factor-like protein); ECGF1 (Endothelial cell growth
factor 1 (platelet-derived)); EGF (Epidermal growth factor); EPS15 (Epidermal
growth factor receptor pathway substrate 15); EPS8 (Epidermal growth factor
receptor pathway substrate 8); FGF1 (Fibroblast growth factor 1 (acidic));
FGF10 (Fibroblast growth factor 10); FGF11 (Fibroblast growth factor 11);
FGF12B (Fibroblast growth factor 12B); FGF13 (Fibroblast growth factor 13);
FGF14 (Fibroblast growth factor 14); FGF16 (Fibroblast growth factor 16); FGF6
(Fibroblast growth factor 6); FGF7 (Fibroblast growth factor 7 (keratinocyte
growth factor)); FGF8 (Fibroblast growth factor 8 (androgen-induced)); FGF9
(Fibroblast growth factor 9 (glia-activating factor)); FGFR1 (Fibroblast growth
factor receptor 1 (fms-related tyrosine kinase 2, Pfeiffer syndrome)); FGFR2
(Fibroblast growth factor receptor 2 (bacteria-expressed kinase, keratinocyte
growth factor receptor, craniofacial dysostosis 1, Crouzon syndrome, Pfeiffer
syndrome, Jackson-Weiss syndrome)); FGFR3 (Fibroblast growth factor receptor 3
(achondroplasia, thanatophoric dwarfism)); FGFR4 (Fibroblast growth factor
receptor 4); FIBP (Fibroblast growth factor (acidic) intracellular binding
protein); FIGF (C-fos induced growth factor (vascular endothelial growth factor
D)); HDGF (Hepatoma-derived growth factor (high-mobility group protein
1-like)); IGF1 (Insulin-like growth factor 1 (somatomedin C)); IGF2 (Insulin-like
growth factor 2 (somatomedin A)); IGFALS (Insulin-like growth factor binding
protein, acid labile subunit); NGFB (Nerve growth factor, beta polypeptide);
PDGFA (Platelet-derived growth factor alpha polypeptide); PDGFRB
(Platelet-derived growth factor receptor, beta polypeptide); PGF (Placental
growth factor, vascular endothelial growth factor-related protein); PTN
(Pleiotrophin (heparin binding growth factor 8, neurite growth-promoting factor
1)); QSCN6 (Quiescin Q6); TAK1 (Transforming growth factor beta-activated
kinase 1); TIEG (TGFB inducible early growth response); TIEG2 (TGFB inducible
early growth response 2); VEGF (Vascular endothelial growth factor); VEGFB
(Vascular endothelial growth factor B); VGF (VGF nerve growth factor
inducible); VTN (Vitronectin (serum spreading factor, somatomedin B, complement
S-protein)); A2M (Alpha-2-macroglobulin); ADAM17 (A disintegrin and
metalloproteinase domain 17 (tumor necrosis factor, alpha, converting enzyme));
ADSL (Adenylosuccinate lyase); AOAH (Acyloxyacyl hydrolase (neutrophil)); AOX1
(Aldehyde oxidase 1); ATP5J (ATP synthase, H+ transporting, mitochondrial F0
complex, subunit F6); BCAT2 (Branched chain aminotransferase 2, mitochondrial);
BCKDHA (Branched chain keto acid dehydrogenase E1, alpha polypeptide (maple
syrup urine disease)); BCL6 (B-cell CLL/lymphoma 6 (zinc finger protein 51));
BCL7 (B-cell CLL/lymphoma 7); BHMT (Betaine-homocysteine methyltransferase);
BSG (Basigin); BTG1 (B-cell translocation gene 1, anti-proliferative); C5
(Complement component 5); CAD (Carbamoyl-phosphate synthetase 2, aspartate
transcarbamylase, and dihydroorotase); CATR1 (CATR tumorigenicity conversion
1); CDR1 (Cerebellar degeneration-related protein (34kD)); CHGB (Chromogranin B
(secretogranin 1)); CHIT1 (Chitinase 1); COL9A2 (Collagen, type IX, alpha 2);
COX10 (Cytochrome c oxidase subunit X (heme A: farnesyltransferase)); COX11
(Cytochrome c oxidase subunit 11); COX15 (Cytochrome c oxidase subunit 15);
COX17 (Human homolog of yeast mitochondrial copper recruitment gene); COX5A
(Cytochrome c oxidase subunit Va); COX5B (Cytochrome c oxidase subunit Vb);
COX6A1 (Cytochrome c oxidase subunit VIa polypeptide 1); COX6A2 (Cytochrome c
oxidase subunit VIa polypeptide 2); COX6B (Cytochrome c oxidase subunit VIb);
COX6C (Cytochrome c oxidase subunit VIc); COX7C (Cytochrome c oxidase subunit
VIIc); COX7RP (Cytochrome c oxidase subunit VII-related protein); COX8
(Cytochrome c oxidase subunit VIII); CPA1 (Carboxypeptidase A1 (pancreatic));
CRHBP (Corticotropin releasing hormone-binding protein); CRIP2 (Cysteine-rich
protein 2); CTH (Cystathionase (cystathionine gamma-lyase)); CTSB (Cathepsin
B); CTSL (Cathepsin L); CYP (Clk-associating RS-cyclophilin); DARS
(Aspartyl-tRNA synthetase); DEFA1 (Defensin, alpha 1, myeloid-related sequence);
DSCAM (Down syndrome cell adhesion molecule); DUSP2 (Dual specificity
phosphatase 2); DYT1 (Dystonia 1, torsion (autosomal dominant)); EDN1
(Endothelin 1); EGFL2 (EGF-like-domain, multiple 2); F5 (Coagulation factor V
(proaccelerin, labile factor)); FMO1 (Flavin containing monooxygenase 1); FUS
(Fusion, derived from t(12;16) malignant liposarcoma); FVT1 (Follicular
lymphoma variant translocation 1); GARS (Glycyl-tRNA synthetase); GZMB
(Granzyme B (granzyme 2, cytotoxic T-lymphocyte-associated serine esterase 1));
GZMK (Granzyme K (serine protease, granzyme 3; tryptase II)); HGFAC (HGF
activator); HRMT1L2 (HMT1 (hnRNP methyltransferase, S. cerevisiae)-like 2);
HSJ1 (Heat shock protein, neuronal DNAJ-like 1); HSJ2 (Heat shock protein,
DNAJ-like 2); IDUA (Iduronidase, alpha-L-); IGFBP10 (Insulin-like growth factor
binding protein 10); LDHA (Lactate dehydrogenase A); LDHB (Lactate
dehydrogenase B); LGALS1 (Lectin, galactoside-binding, soluble, 1 (galectin
1)); LMO1 (LIM domain only 1 (rhombotin 1)); LNPEP (Leucyl/cystinyl
aminopeptidase); LPP (LIM domain-containing preferred translocation partner in
lipoma); MANA2 (Mannosidase, alpha type II); MAOA (Monoamine oxidase A); MFNG
(Manic fringe (Drosophila) homolog); MMP-20 (Enamelysin); MMP10 (Matrix
metalloproteinase 10 (stromelysin 2)); MMP19 (Matrix metalloproteinase 19);
MMP8 (Matrix metalloproteinase 8 (neutrophil collagenase)); MT7SDNA (7S DNA);
NB (Neuroblastoma (neuroblastoma suppressor)); NB4S (Neuroblastoma stage 4S
gene); NPAT (Nuclear protein, ataxia-telangiectasia locus); OAS2
(2'-5'oligoadenylate synthetase 2); ORCTL3 (Organic cationic transporter-like
3); PDHA1 (Pyruvate dehydrogenase (lipoamide) alpha 1); PGAM1 (Phosphoglycerate
mutase 1 (brain)); PITX2 (Paired-like homeodomain transcription factor 2); PRNP
(Prion protein (p27-30) (Creutzfeld-Jakob disease,
Gerstmann-Strausler-Scheinker syndrome, fatal familial insomnia)); PRSM1
(Protease, metallo, 1, 33kD); PTGS2 (Prostaglandin-endoperoxide synthase 2
(prostaglandin G/H synthase and cyclooxygenase)); RAD50 (RAD50 (S. cerevisiae)
homolog); RAD51C (RAD51 (S. cerevisiae) homolog C); RCN2 (Reticulocalbin 2,
EF-hand calcium binding domain); SET (SET translocation (myeloid
leukemia-associated)); SIAT4A (Sialyltransferase 4A (beta-galactosidase
alpha-2,3-sialytransferase)); SPARC (Secreted protein, acidic, cysteine-rich
(osteonectin)); TAL1 (T-cell acute lymphocytic leukemia 1); TBG
(Thyroxin-binding globulin); TFF1 (Trefoil factor 1 (breast cancer,
estrogen-inducible sequence expressed in)); TIMP4 (Tissue inhibitor of
metalloproteinase 4); TSC1 (Tuberous sclerosis 1); TSC2 (Tuberous sclerosis 2);
UCP2 (Uncoupling protein 2 (mitochondrial, proton carrier)); UROS
(Uroporphyrinogen III synthase (congenital erythropoietic porphyria)); VWF (Von
Willebrand factor); ANT2 (Adenine nucleotide translocator 2 (fibroblast)); BSEP
(Bile salt export pump (ABC member 16, MDR/TAP subfamily)); GJB1 (Gap junction
protein, beta 1, 32kD (connexin 32, Charcot-Marie-Tooth neuropathy, X-linked));
KCNN3 (Potassium intermediate/small conductance calcium-activated channel,
subfamily N, member 3); OCLN (Occludin); PGY3 (P glycoprotein 3/multiple drug
resistance 3); SLC2A3 (Solute carrier family 2 (facilitated glucose
transporter), member 3); SLC2A5 (Solute carrier family 2 (facilitated glucose
transporter), member 5); TAP1 (Transporter 1, ABC (ATP binding cassette));
TAPBP (TAP binding protein (tapasin)); ARHGDIB (Rho GDP dissociation inhibitor
(GDI) beta); ATRX (Alpha thalassemia/mental retardation syndrome X-linked);
BMZF2 (Zinc finger 2, bone marrow); BMZF3 (Bone marrow zinc finger 3); BPI
(Bactericidal/permeability-increasing protein); CD14 (CD14 antigen); EPB41
(Erythrocyte membrane protein band 4.1 (elliptocytosis 1, RH-linked)); EPB42
(Erythrocyte membrane protein band 4.2); GATA1 (GATA-binding protein 1 (globin
transcription factor 1)); GATA2 (GATA-binding protein 2); GATA3 (GATA-binding
protein 3); GATA4 (GATA-binding protein 4); GATA6 (GATA-binding protein 6);
GZMA (Granzyme A (granzyme 1, cytotoxic T-lymphocyte-associated serine esterase
3)); HBA1 (Hemoglobin, alpha 1); HBB (Hemoglobin, beta); HBG1 (Hemoglobin,
gamma A); HBZ (Hemoglobin, zeta); HCF2 (Heparin cofactor II); HHEX
(Hematopoietically expressed homeobox); HK2 (Hexokinase 2); HP (Haptoglobin);
HPS (Hermansky-Pudlak syndrome); HPX (Hemopexin); LAF4 (Lymphoid nuclear
protein related to AF4); LCP1 (Lymphocyte cytosolic protein 1 (L-plastin));
LRMP (Lymphoid-restricted membrane protein); MAL (Mal, T-cell differentiation
protein); MLL (Myeloid/lymphoid or mixed-lineage leukemia (trithorax
(Drosophila) homolog)); MLL2 (Myeloid/lymphoid or mixed-lineage leukemia 2);
MLLT1 (Myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila)
homolog); translocated to, 1); MLLT2 (Myeloid/lymphoid or mixed-lineage
leukemia (trithorax (Drosophila) homolog); translocated to, 2); MLLT3
(Myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog);
translocated to, 3); MLLT4 (Myeloid/lymphoid or mixed-lineage leukemia
(trithorax (Drosophila) homolog); translocated to, 4); MLLT6 (Myeloid/lymphoid
or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to,
6); MLLT7 (Myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila)
homolog); translocated to, 7); MPO (Myeloperoxidase); MYD88 (Myeloid differentiation
primary response gene (88)); POU2F1 (POU domain, class 2, transcription factor
1); POU2F2 (POU domain, class 2, transcription factor 2); POU3F1 (POU domain,
class 3, transcription factor 1); SCYC1 (Small inducible cytokine subfamily C,
member 1 (lymphotactin)); TNFRSF17 (Tumor necrosis factor receptor superfamily,
member 17); VWF (Von Willebrand factor);
【０１２０】
薬理学
ALDH1 (Aldehyde dehydrogenase 1, soluble); ALDH10 (Aldehyde
dehydrogenase 10 (fatty aldehyde dehydrogenase)); ALDH2 (Aldehyde dehydrogenase
2, mitochondrial); ALDH3 (Aldehyde dehydrogenase 3); ALDH6 (Aldehyde
dehydrogenase 6); ALDH7 (Aldehyde dehydrogenase 7); ALDH8 (Aldehyde
dehydrogenase 8); ANT2 (Adenine nucleotide translocator 2 (fibroblast)); APEX
(APEX nuclease (multifunctional DNA repair enzyme)); BCHE
(Butyrylcholinesterase); BLMH (Bleomycin hydrolase); CAT (Catalase); CDA
(Cytidine deaminase); CYP11A (Cytochrome P450, subfamily XIA (cholesterol side
chain cleavage)); CYP11B1 (Cytochrome P450, subfamily XIB (steroid
11-beta-hydroxylase), polypeptide 1); CYP11B2 (Cytochrome P450, subfamily XIB
(steroid 11-beta-hydroxylase), polypeptide 2); CYP17 (Cytochrome P450,
subfamily XVII (steroid 17-alpha-hydroxylase), adrenal hyperplasia); CYP19
(Cytochrome P450, subfamily XIX (aromatization of androgens)); CYP1A1
(Cytochrome P450, subfamily I (aromatic compound-inducible), polypeptide 1);
CYP1A2 (Cytochrome P450, subfamily I (aromatic compound-inducible), polypeptide
2); CYP1B1 (Cytochrome P450, subfamily I (dioxin-inducible), polypeptide 1 (glaucoma
3, primary infantile)); CYP21 (Cytochrome P450, subfamily XXI (steroid
21-hydroxylase, congenital adrenal hyperplasia)); CYP27A1 (Cytochrome P450,
subfamily XXVIIA (steroid 27-hydroxylase, cerebrotendinous xanthomatosis),
polypeptide 1); CYP2A6 (Cytochrome P450, subfamily IIA
(phenobarbital-inducible), polypeptide 6); CYP2B (Cytochrome P450, subfamily
IIB (phenobarbital-inducible)); CYP2B6 (Cytochrome P450, subfamily IIB
(phenobarbital-inducible), polypeptide 6); CYP2C18 (Cytochrome P450, subfamily
IIC (mephenytoin 4-hydroxylase), polypeptide 18); CYP2C19 (Cytochrome P450,
subfamily IIC (mephenytoin 4-hydroxylase)); CYP2C9 (Cytochrome P450, subfamily
IIC (mephenytoin 4-hydroxylase), polypeptide 9); CYP2D6 (Cytochrome P450,
subfamily IID (debrisoquine, sparteine, etc., -metabolizing), polypeptide 6);
CYP2E (Cytochrome P450, subfamily IIE (ethanol-inducible)); CYP2F1 (Cytochrome
P450, subfamily IIF, polypeptide 1); CYP2J2 (Cytochrome P450, subfamily IIJ
(arachidonic acid epoxygenase) polypeptide 2); CYP3A3 (Cytochrome P450,
subfamily IIIA (niphedipine oxidase), polypeptide 3); CYP3A5 (Cytochrome P450,
subfamily IIIA (niphedipine oxidase), polypeptide 5); CYP3A7 (Cytochrome P450,
subfamily IIIA, polypeptide 7); CYP4A11 (Cytochrome P450, subfamily IVA, polypeptide
11); CYP4F3 (Cytochrome P450, subfamily IVF, polypeptide 3 (leukotriene B4
omega hydroxylase)); CYP51 (Cytochrome P450, 51 (lanosterol
14-alpha-demethylase)); DCK (Deoxycytidine kinase); DGUOK (Deoxyguanosine
kinase); DHFR (Dihydrofolate reductase); DIA4 (Diaphorase (NADH/NADPH)
(cytochrome b-5 reductase)); DPYD (Dihydropyrimidine dehydrogenase); EPHX1
(Epoxide hydrolase 1, microsomal (xenobiotic)); EPHX2 (Epoxide hydrolase 2,
cytoplasmic); GJB1 (Gap junction protein, beta 1, 32kD (connexin 32, Charcot-Marie-Tooth
neuropathy, X-linked)); GLRX (Glutaredoxin (thioltransferase)); GPX1
(Glutathione peroxidase 1); GPX2 (Glutathione peroxidase 2 (gastrointestinal));
GPX3 (Glutathione peroxidase 3 (plasma)); GPX4 (Glutathione peroxidase 4
(phospholipid hydroperoxidase)); GSR (Glutathione reductase); GSS (Glutathione
synthetase); GSTA2 (Glutathione S-transferase A2); GSTA3 (Glutathione
S-transferase A3); GSTM1 (Glutathione S-transferase M1); GSTM2 (Glutathione
S-transferase M2 (muscle)); GSTM3 (Glutathione S-transferase M3 (brain)); GSTM4
(Glutathione S-transferase M4); GSTM5 (Glutathione S-transferase M5); GSTP1
(Glutathione S-transferase pi); GSTT1 (Glutathione S-transferase theta 1);
GSTT2 (Glutathione S-transferase theta 2); GSTTLp28 (Glutathione-S-transferase
like); GSTZ1 (Glutathione S-transferase Zeta 1 (maleylacetoacetate isomerase));
HPRT1 (Hypoxanthine phosphoribosyltransferase 1 (Lesch-Nyhan syndrome)); IMPDH1
(IMP (inosine monophosphate) dehydrogenase 1); IMPDH2 (IMP (inosine
monophosphate) dehydrogenase 2); KCNN3 (Potassium intermediate/small
conductance calcium-activated channel, subfamily N, member 3); MGST1
(Microsomal glutathione S-transferase 1); MGST2 (Microsomal glutathione
S-transferase 2); MGST3 (Microsomal glutathione S-transferase 3); MRP1
(Multiple drug resistance protein 1); NAT1 (N-acetyltransferase 1 (arylamine
N-acetyltransferase)); NMOR2 (NAD(P)H menadione oxidoreductase 2,
dioxin-inducible); OCLN (Occludin); PGY1 (P glycoprotein 1/multiple drug
resistance 1); PGY3 (P glycoprotein 3/multiple drug resistance 3); RRM1
(Ribonucleotide reductase M1 polypeptide); RRM2 (Ribonucleotide reductase M2
polypeptide); SLC2A3 (Solute carrier family 2 (facilitated glucose
transporter), member 3); SLC2A5 (Solute carrier family 2 (facilitated glucose
transporter), member 5); SOD1 (Superoxide dismutase 1, soluble (amyotrophic
lateral sclerosis 1 (adult))); SOD2 (Superoxide dismutase 2, mitochondrial);
SOD3 (Superoxide dismutase 3, extracellular); TAP1 (Transporter 1, ABC (ATP
binding cassette)); TAPBP (TAP binding protein (tapasin)); TK1 (Thymidine
kinase 1, soluble); TPMT (Thiopurine S-methyltransferase); TXNRD1 (Thioredoxin
reductase 1); TYMS (Thymidylate synthetase); UGALT (UDP-galactose
translocator); UGT2B10 (UDP glycosyltransferase 2 family, polypeptide B10);
UGT2B15 (UDP glycosyltransferase 2 family, polypeptide B15); UGT2B4 (UDP
glycosyltransferase 2 family, polypeptide B4); UGT2B7 (UDP glycosyltransferase
2 family, polypeptide B7); UGT8 (UDP glycosyltransferase 8 (UDP-galactose
ceramide galactosyltransferase)); UMPS (Uridine monophosphate synthetase
(orotate phosphoribosyl transferase and orotidine-5'-decarboxylase)); XDH
(Xanthene dehydrogenase);
【０１２１】
シグナル伝達
ABL1 (V-abl Abelson murine leukemia viral oncogene homolog 1); ABL2
(V-abl Abelson murine leukemia viral oncogene homolog 2 (arg, Abelson-related
gene)); ABR (Active BCR-related gene); ACVR1B (Activin A receptor, type IB);
ADK (Adenosine kinase); ADRBK1 (Adrenergic, beta, receptor kinase 1); AK1
(Adenylate kinase 1); AK2 (Adenylate kinase 2); AK3 (Adenylate kinase 3); AKT1
(V-akt murine thymoma viral oncogene homolog 1); AKT2 (V-akt murine thymoma
viral oncogene homolog 2); ALOX12 (Arachidonate 12-lipoxygenase); ALOX5
(Arachidonate 5-lipoxygenase); ARAF1 (V-raf murine sarcoma 3611 viral oncogene
homolog 1); ARHA (Ras homolog gene family, member A); ARHC (Ras homolog gene
family, member C); ARHGDIB (Rho GDP dissociation inhibitor (GDI) beta); BLK (B
lymphoid tyrosine kinase); BMPR2 (Bone morphogenetic protein receptor, type II
(serine/threonine kinase)); BMX (BMX non-receptor tyrosine kinase); BRAF (V-raf
murine sarcoma viral oncogene homolog B1); BTK (Bruton agammaglobulinemia
tyrosine kinase); CAK (Cell adhesion kinase); CALM1 (Calmodulin 1
(phosphorylase kinase, delta)); CAMK4 (Calcium/calmodulin-dependent protein
kinase IV); CBLB (Cas-Br-M (murine) ectropic retroviral transforming sequence
b); CCNH (Cyclin H); CDC2L1 (Cell division cycle 2-like 1 (PITSLRE proteins));
CDC42 (Cell division cycle 42 (GTP-binding protein, 25kD)); CDC42 (Cell division
cycle 42 (GTP-binding protein, 25kD)); CDC7L1 (CDC7 (cell division cycle 7, S.
cerevisiae, homolog)-like 1); CDK2 (Cyclin-dependent kinase 2); CDK5
(Cyclin-dependent kinase 5); CDK6 (Cyclin-dependent kinase 6); CDK7
(Cyclin-dependent kinase 7 (homolog of Xenopus MO15 cdk-activating kinase));
CDK8 (Cyclin-dependent kinase 8); CDKN2B (Cyclin-dependent kinase inhibitor 2B
(p15, inhibits CDK4)); CHEK1 (CHK1 (checkpoint, S.pombe) homolog); CHN1
(Chimerin (chimaerin) 1); CHN2 (Chimerin (chimaerin) 2); CHUK (Conserved
helix-loop-helix ubiquitous kinase); CIS4 (STAT induced STAT inhibitor-4); CKS1
(CDC28 protein kinase 1); CKS2 (CDC28 protein kinase 2); CLGN (Calmegin); CLK2
(CDC-like kinase 2); CLK3 (CDC-like kinase 3); CNK (Cytokine-inducible kinase);
COT (Cot (cancer Osaka thyroid) oncogene); CSK (C-src tyrosine kinase); CSNK1A1
(Casein kinase 1, alpha 1); CSNK1D (Casein kinase 1, delta); CSNK1E (Casein
kinase 1, epsilon); CSNK2A2 (Casein kinase 2, alpha prime polypeptide); CSNK2B
(Casein kinase 2, beta polypeptide); CTNNA1 (Catenin (cadherin-associated
protein), alpha 1 (102kD)); CTNNB1 (Catenin (cadherin-associated protein), beta
1 (88kD)); CTNND2 (Catenin (cadherin-associated protein), delta 2 (neural
plakophilin-related arm-repeat protein)); DGKA (Diacylglycerol kinase, alpha
(80kD)); DGKG (Diacylglycerol kinase, gamma (90kD)); DGKQ (Diacylglycerol
kinase, theta (110kD)); DMPK (Dystrophia myotonica-protein kinase); DRG2
(Developmentally regulated GTP-binding protein 2); DVL3 (Dishevelled 3
(homologous to Drosophila dsh)); DYRK1 (Dual-specificity
tyrosine-(Y)-phosphorylation regulated kinase 1); DYRK1B (Dual-specificity
tyrosine-(Y)-phosphorylation regulated kinase 1B); DYRK2 (Dual-specificity
tyrosine-(Y)-phosphorylation regulated kinase 2); DYRK3 (Dual-specificity
tyrosine-(Y)-phosphorylation regulated kinase 3); DYRK4 (Dual-specificity
tyrosine-(Y)-phosphorylation regulated kinase 4); EFNA1 (Ephrin-A1); EFNA5
(Ephrin-A5); EFNB1 (Ephrin-B1); EFNB2 (Ephrin-B2); EGFR (Epidermal growth
factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene
homolog)); EPHA2 (EphA2); EPHA4 (EphA4); EPHA5 (EphA5); EPHA7 (EphA7); EPHB3
(EphB3); EPHB4 (EphB4); EPHB6 (EphB6); ERBB2 (V-erb-b2 avian erythroblastic
leukemia viral oncogene homolog 2 (neuro/glioblastoma derived oncogene
homolog)); ERBB3 (V-erb-b2 avian erythroblastic leukemia viral oncogene homolog
3); ERBB4 (V-erb-a avian erythroblastic leukemia viral oncogene homolog-like
4); FBL (Fibrillarin); FER (Fer (fps/fes related) tyrosine kinase (phosphoprotein
NCP94)); FES (Feline sarcoma (Snyder-Theilen) viral (v-fes)/Fujinami avian
sarcoma (PRCII) viral (v-fps) oncogene homolog); FGFR1 (Fibroblast growth
factor receptor 1 (fms-related tyrosine kinase 2, Pfeiffer syndrome)); FGFR2
(Fibroblast growth factor receptor 2 (bacteria-expressed kinase, keratinocyte
growth factor receptor, craniofacial dysostosis 1, Crouzon syndrome, Pfeiffer
syndrome, Jackson-Weiss syndrome)); FGR (Gardner-Rasheed feline sarcoma viral
(v-fgr) oncogene homolog); FLT1 (Fms-related tyrosine kinase 1 (vascular
endothelial growth factor/vascular permeability factor receptor)); FLT3LG
(Fms-related tyrosine kinase 3 ligand); FLT4 (Fms-related tyrosine kinase 4);
FRK (Fyn-related kinase); FYB (FYN-binding protein (FYB-120/130)); FYN (FYN
oncogene related to SRC, FGR, YES); GLA (Galactosidase, alpha); GNAI1 (Guanine
nucleotide binding protein (G protein), alpha inhibiting activity polypeptide
1); GNG10 (Guanine nucleotide binding protein 10); GPRK6 (G protein-coupled
receptor kinase 6); GRB2 (Growth factor receptor-bound protein 2); GUCY1B3
(Guanylate cyclase 1, soluble, beta 3); HCK (Hemopoietic cell kinase); HIPK3
(Homeodomain-interacting protein kinase 3); HRK (Harakiri, BCL2-interacting
protein (contains only BH3 domain)); ILK (Integrin-linked kinase); IRAK1
(Interleukin-1 receptor-associated kinase 1); IRAK2 (Interleukin-1
receptor-associated kinase 2); ITPKB (Inositol 1,4,5-trisphosphate 3-kinase B);
JAK1 (Janus kinase 1 (a protein tyrosine kinase)); JAK2 (Janus kinase 2 (a
protein tyrosine kinase)); JAK3 (Janus kinase 3 (a protein tyrosine kinase,
leukocyte)); KDR (Kinase insert domain receptor (a type III receptor tyrosine
kinase)); KIAA0641 (Apoptosis-associated tyrosine kinase); LCAT
(Lecithin-cholesterol acyltransferase); LCK (Lymphocyte-specific protein
tyrosine kinase); LIMK1 (LIM domain kinase 1); LIMK2 (LIM domain kinase 2); LTK
(Leukocyte tyrosine kinase); LYN (V-yes-1 Yamaguchi sarcoma viral related
oncogene homolog); MACS (Myristoylated alanine-rich protein kinase C substrate
(MARCKS, 80K-L)); MADH1 (MAD (mothers against decapentaplegic, Drosophila)
homolog 1); MADH2 (MAD (mothers against decapentaplegic, Drosophila) homolog
2); MADH3 (MAD (mothers against decapentaplegic, Drosophila) homolog 3);
MAPKAPK2 (Mitogen-activated protein kinase-activated protein kinase 2);
MAPKAPK5 (Mitogen-activated protein kinase-activated protein kinase 5); MATK
(Megakaryocyte-associated tyrosine kinase); MEKK3 (MAP/ERK kinase kinase 3);
MEKK4 (MAP/ERK kinase kinase 4); MEKK5 (MAP/ERK kinase kinase 5); MST1R
(Macrophage stimulating 1 receptor (c-met-related tyrosine kinase)); NCK1 (NCK
adaptor protein 1); NEK3 (NIMA (never in mitosis gene a)-related kinase); NME1
(Non-metastatic cells 1, protein (NM23A) expressed in); NME2 (Non-metastatic
cells 2, protein (NM23B) expressed in); NMI (N-myc (and STAT) interactor); NPM1
(Nucleophosmin (nucleolar phosphoprotein B23, numatrin)); NTRK1 (Neurotrophic
tyrosine kinase, receptor, type 1); NTRK2 (Neurotrophic tyrosine kinase,
receptor, type 2); NTRK3 (Neurotrophic tyrosine kinase, receptor, type 3);
NTRKR1 (Neurotrophic tyrosine kinase, receptor-related 1); NTRKR2 (Neurotrophic
tyrosine kinase, receptor-related 2); NTRKR3 (Neurotrophic tyrosine kinase,
receptor-related 3); PCTK3 (PCTAIRE protein kinase 3); PDE4B (Phosphodiesterase
4B, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E4)); PDGFA
(Platelet-derived growth factor alpha polypeptide); PDGFB (Platelet-derived
growth factor beta polypeptide (simian sarcoma viral (v-sis) oncogene
homolog)); PDGFRA (Platelet-derived growth factor receptor, alpha polypeptide);
PDGFRB (Platelet-derived growth factor receptor, beta polypeptide); PDGFRL
(Platelet-derived growth factor receptor-like); PDK2 (Pyruvate dehydrogenase
kinase, isoenzyme 2); PDK4 (Pyruvate dehydrogenase kinase, isoenzyme 4); PDPK1
(3-phosphoinositide dependent protein kinase-1); PHKA2 (Phosphorylase kinase,
alpha 2 (liver), glycogen storage disease IX); PHKG2 (Phosphorylase kinase,
gamma 2 (testis)); PIASX-BETA (Protein inhibitor of activated STAT X); PIK3C3
(Phosphoinositide-3-kinase, class 3); PIK3CA (Phosphoinositide-3-kinase,
catalytic, alpha polypeptide); PIK3CA (Phosphoinositide-3-kinase, catalytic,
alpha polypeptide); PIK3CG (Phosphoinositide-3-kinase, catalytic, gamma
polypeptide); PIM1 (Pim-1 oncogene); PLA2G2A (Phospholipase A2, group IIA
(platelets, synovial fluid)); PLCB4 (Phospholipase C, beta 4); PLCE
(Phospholipase C, epsilon); PLCG2 (Phospholipase C, gamma 2
(phosphatidylinositol-specific)); PPP2R5A (Protein phosphatase 2, regulatory subunit
B (B56), alpha isoform); PPP2R5B (Protein phosphatase 2, regulatory subunit B
(B56), beta isoform); PPP2R5C (Protein phosphatase 2, regulatory subunit B
(B56), gamma isoform); PPP2R5D (Protein phosphatase 2, regulatory subunit B
(B56), delta isoform); PPP2R5E (Protein phosphatase 2, regulatory subunit B
(B56), epsilon isoform); PRKAA2 (Protein kinase, AMP-activated, alpha 2
catalytic subunit); PRKACA (Protein kinase, cAMP-dependent, catalytic, alpha);
PRKACB (Protein kinase, cAMP-dependent, catalytic, beta); PRKACG (Protein
kinase, cAMP-dependent, catalytic, gamma); PRKAG1 (Protein kinase,
AMP-activated, gamma 1 non-catalytic subunit); PRKAR1A (Protein kinase,
cAMP-dependent, regulatory, type I, alpha (tissue specific extinguisher 1));
PRKAR1B (Protein kinase, cAMP-dependent, regulatory, type I, beta); PRKAR2B
(Protein kinase, cAMP-dependent, regulatory, type II, beta); PRKCA (Protein
kinase C, alpha); PRKCB1 (Protein kinase C, beta 1); PRKCG (Protein kinase C,
gamma); PRKCI (Protein kinase C, iota); PRKCL1 (Protein kinase C-like 1);
PRKCL2 (Protein kinase C-like 2); PRKCM (Protein kinase C, mu); PRKCQ (Protein
kinase C, theta); PRKCZ (Protein kinase C, zeta); PRKG1 (Protein kinase,
cGMP-dependent, type I); PRKG2 (Protein kinase, cGMP-dependent, type II); PRKM1
(Protein kinase, mitogen-activated 1 (MAP kinase 1; p40, p41)); PRKM10 (Protein
kinase mitogen-activated 10 (MAP kinase)); PRKM11 (Protein kinase mitogen-
activated 11); PRKM13 (Protein kinase mitogen- activated 13); PRKM3 (Protein
kinase, mitogen-activated 3 (MAP kinase 3; p44)); PRKM4 (Protein kinase,
mitogen-activated 4 (MAP kinase 4; p63)); PRKM6 (Protein kinase,
mitogen-activated 6 (extracellular signal-regulated kinase, p97)); PRKM7
(Protein kinase mitogen-activated 7 (MAP kinase)); PRKM8 (Protein kinase
mitogen-activated 8 (MAP kinase)); PRKM9 (Protein kinase mitogen-activated 9
(MAP kinase)); PRKMK1 (Protein kinase, mitogen-activated, kinase 1 (MAP kinase
kinase 1)); PRKMK1 (Protein kinase, mitogen-activated, kinase 1 (MAP kinase
kinase 1)); PRKMK2 (Protein kinase, mitogen-activated, kinase 2, p45 (MAP
kinase kinase 2)); PRKMK3 (Protein kinase, mitogen-activated, kinase 3 (MAP
kinase kinase 3)); PRKMK5 (Protein kinase, mitogen-activated, kinase 5 (MAP
kinase kinase 5)); PRKMK7 (Protein kinase, mitogen-activated, kinase 7 (MAP
kinase kinase 7)); PRKR (Protein kinase, interferon-inducible double stranded
RNA dependent); PTK2 (PTK2 protein tyrosine kinase 2); PTK2B (Protein tyrosine
kinase 2 beta); PTK7 (PTK7 protein tyrosine kinase 7); PTK9 (Protein tyrosine
kinase 9); RAB8IP (Rab8 interacting protein (GC kinase)); RASA1 (RAS p21
protein activator (GTPase activating protein) 1); RET (Ret proto-oncogene
(multiple endocrine neoplasia MEN2A, MEN2B and medullary thyroid carcinoma 1,
Hirschsprung disease)); RGS1 (Regulator of G-protein signalling 1); RGS16
(Regulator of G-protein signalling 16); RGS7 (Regulator of G-protein signalling
7); RHO7 (GTP-binding protein Rho7); RHOK (Rhodopsin kinase); ROCK1
(Rho-associated, coiled-coil containing protein kinase 1); RPS6KA2 (Ribosomal
protein S6 kinase, 90kD, polypeptide 2); RPS6KB1 (Ribosomal protein S6 kinase,
70kD, polypeptide 1); RYK (RYK receptor-like tyrosine kinase); SAPK3
(Stress-activated protein kinase 3); SERK1 (SAPK/Erk kinase 1); SFN (Stratifin);
SH2D1A (SH2 domain protein 1A, Duncan's disease (lymphoproliferative
syndrome)); SH3D1B (SH3 domain protein 1B); SRC (V-src avian sarcoma
(Schmidt-Ruppin A-2) viral oncogene homolog); SRPK2 (SFRS protein kinase 2);
SSI-1 (JAK binding protein); SSI-3 (STAT induced STAT inhibitor 3); STAT1
(Signal transducer and activator of transcription 1, 91kD); STAT2 (Signal
transducer and activator of transcription 2, 113kD); STAT3 (Signal transducer
and activator of transcription 3 (acute-phase response factor)); STAT4 (Signal
transducer and activator of transcription 4); STAT5A (Signal transducer and
activator of transcription 5A); STAT6 (Signal transducer and activator of
transcription 6, interleukin-4 induced); STATI2 (STAT induced STAT
inhibitor-2); STK11 (Serine/threonine kinase 11 (Peutz-Jeghers syndrome));
STK15 (Serine/threonine kinase 15); STK17A (Serine/threonine kinase 17a
(apoptosis-inducing)); STK17B (Serine/threonine kinase 17b
(apoptosis-inducing)); STK2 (Serine/threonine kinase 2); STK3 (Serine/threonine
kinase 3 (Ste20, yeast homolog)); STK4 (Serine/threonine kinase 4); SUB1.5
(Guanine nucleotide exchange factor; 115-kD; mouse Lsc homolog); SYK (Spleen
tyrosine kinase); TESK1 (Testis-specific kinase 1); TIAM1 (T-cell lymphoma
invasion and metastasis 1); TK2 (Thymidine kinase 2, mitochondrial); TNFAIP1
(Tumor necrosis factor, alpha-induced protein 1 (endothelial)); TRK (Oncogene
TRK); TRK1 (TRNA lysine 1); TTK (TTK protein kinase); TXK (TXK tyrosine
kinase); TYK2 (Tyrosine kinase 2); TYRO3 (TYRO3 protein tyrosine kinase);
TYROBP (TYRO protein tyrosine kinase binding protein); UBE1L
(Ubiquitin-activating enzyme E1, like); UBE2A (Ubiquitin-conjugating enzyme E2A
(RAD6 homolog)); UBE2B (Ubiquitin-conjugating enzyme E2B (RAD6 homolog)); VASP
(Vasodilator-stimulated phosphoprotein); VAV2 (Vav 2 oncogene); VRK2 (Vaccinia
related kinase 2); WAS (Wiskott-Aldrich syndrome (ecezema-thrombocytopenia));
YES1 (V-yes-1 Yamaguchi sarcoma viral oncogene homolog 1); YESP (V-yes-1
Yamaguchi sarcoma viral oncogene homolog pseudogene); ZAP70 (Zeta-chain (TCR)
associated protein kinase (70 kD)); ZPK (Zipper (leucine) protein kinase);
【０１２２】
転写
ADA (Adenosine deaminase); ADPRT (ADP-ribosyltransferase (NAD+; poly
(ADP-ribose) polymerase)); ADSS (Adenylosuccinate synthase); AHR (Aryl
hydrocarbon receptor); ATBF1 (AT-binding transcription factor 1); ATF1
(Activating transcription factor 1); ATF3 (Activating transcription factor 3);
ATF4 (Activating transcription factor 4 (tax-responsive enhancer element B67));
BARD1 (BRCA1 associated RING domain 1); BCL6 (B-cell CLL/lymphoma 6 (zinc
finger protein 51)); BMZF2 (Zinc finger 2, bone marrow); BMZF3 (Bone marrow
zinc finger 3); CBF2 (CCAAT-box-binding transcription factor); CBFA2
(Core-binding factor, runt domain, alpha subunit 2 (acute myeloid leukemia 1;
aml1 oncogene)); CBFA3 (Core-binding factor, runt domain, alpha subunit 3);
CBFB (Core-binding factor, beta subunit); CEBPA (CCAAT/enhancer binding protein
(C/EBP), alpha); CEBPB (CCAAT/enhancer binding protein (C/EBP), beta); CEBPD
(CCAAT/enhancer binding protein (C/EBP), delta); CEBPE (CCAAT/enhancer binding
protein (C/EBP), epsilon); CEBPG (CCAAT/enhancer binding protein (C/EBP),
gamma); CENPE (Centromere protein E (312kD)); CHD1 (Chromodomain helicase DNA
binding protein 1); CHD2 (Chromodomain helicase DNA binding protein 2); CHD3
(Chromodomain helicase DNA binding protein 3); CHD4 (Chromodomain helicase DNA
binding protein 4); CREB2 (CAMP responsive element binding protein 2); CREBBP
(CREB binding protein (Rubinstein-Taybi syndrome)); CSE1L (Chromosome
segregation 1 (yeast homolog)-like); CSTF3 (Cleavage stimulation factor, 3'
pre-RNA, subunit 3, 77kD); CTPS (CTP synthase); DCK (Deoxycytidine kinase);
DCTD (DCMP deaminase); DDIT3 (DNA-damage-inducible transcript 3); DGUOK
(Deoxyguanosine kinase); DR1 (Down-regulator of transcription 1, TBP-binding
(negative cofactor 2)); DUT (DUTP pyrophosphatase); E2F1 (E2F transcription
factor 1); E2F2 (E2F transcription factor 2); E2F5 (E2F transcription factor 5,
p130-binding); EGR1 (Early growth response 1); EIF3S6 (Eukaryotic translation
initiation factor 3, subunit 6 (48kD)); ELF1 (E74-like factor 1 (ets domain
transcription factor)); ELF3 (E74-like factor 3 (ets domain transcription
factor)); ELK4 (ELK4, ETS-domain protein (SRF accessory protein 1) NOTE: Symbol
and name provisional); EP300 (E1A binding protein p300); ERV3 (Endogenous
retroviral sequence 3 (includes zinc finger protein H-plk/HPF9)); ESR1
(Estrogen receptor 1); ETS2 (V-ets avian erythroblastosis virus E26 oncogene
homolog 2); ETV1 (Ets variant gene 1); ETV3 (Ets variant gene 3); ETV4 (Ets
variant gene 4 (E1A enhancer-binding protein, E1AF)); ETV5 (Ets variant gene 5
(ets-related molecule)); EZF (Endothelial Kruppel-like zinc finger protein);
FKHR (Forkhead (Drosophila) homolog 1 (rhabdomyosarcoma)); FLI1 (Friend
leukemia virus integration 1); FSRG1 (Female sterile homeotic-related gene 1
(mouse homolog)); GART (Phosphoribosylglycinamide formyltransferase,
phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase);
GATA1 (GATA-binding protein 1 (globin transcription factor 1)); GATA2
(GATA-binding protein 2); GATA3 (GATA-binding protein 3); GATA4 (GATA-binding
protein 4); GLI (Glioma-associated oncogene homolog (zinc finger protein));
GRSF1 (G-rich RNA sequence binding factor 1); GTF2H2 (General transcription
factor IIH, polypeptide 2 (44kD subunit)); H4FI (H4 histone family, member I);
HHEX (Hematopoietically expressed homeobox); HIF1A (Hypoxia-inducible factor 1,
alpha subunit (basic helix-loop-helix transcription factor)); HIVEP1 (Human
immunodeficiency virus type I enhancer-binding protein 1); HLF (Hepatic
leukemia factor); HMG17 (High-mobility group (nonhistone chromosomal) protein
17); HMG2 (High-mobility group (nonhistone chromosomal) protein 2); HNRPK
(Heterogeneous nuclear ribonucleoprotein K); HZF2 (Zinc finger (C2H2)); ICSBP1
(Interferon consensus sequence binding protein 1); ID1 (Inhibitor of DNA
binding 1, dominant negative helix-loop-helix protein); ID2 (Inhibitor of DNA
binding 2, dominant negative helix-loop-helix protein); ID3 (Inhibitor of DNA
binding 3, dominant negative helix-loop-helix protein); ID4 (Inhibitor of DNA
binding 4, dominant negative helix-loop-helix protein); IRF1 (Interferon
regulatory factor 1); IRF2 (Interferon regulatory factor 2); IRF4 (Interferon
regulatory factor 4); IRF5 (Interferon regulatory factor 5); IRF7 (Interferon
regulatory factor 7); JUN (V-jun avian sarcoma virus 17 oncogene homolog); JUND
(Jun D proto-oncogene); KIAA0646 (C3HC4-type zinc finger protein); LAF4
(Lymphoid nuclear protein related to AF4); LKLF (Lung Kruppel-like zinc finger
transcription factor); LYF1 (Zinc finger protein, subfamily 1A, 1 (Ikaros));
LYL1 (Lymphoblastic leukemia derived sequence 1); MAFG (V-maf
musculoaponeurotic fibrosarcoma (avian) oncogene family, protein G); MAX (MAX
protein); MAZ (MYC-associated zinc finger protein (purine-binding transcription
factor)); MBLL (C3H-type zinc finger protein; similar to D. melanogaster
muscleblind B protein); MDM2 (Mouse double minute 2, human homolog of; p53-binding
protein); MHC2TA (MHC class II transactivator); MKI67 (Antigen identified by
monoclonal antibody Ki-67); MNDA (Myeloid cell nuclear differentiation
antigen); MSX1 (Msh (Drosophila) homeo box homolog 1 (formerly homeo box 7));
MTHFD (5,10-methylenetetrahydrofolate dehydrogenase,
5,10-methylenetetrahydrofolate cyclohydrolase, 10-formyltetrahydrofolate
synthetase); MYC (V-myc avian myelocytomatosis viral oncogene homolog); NCBP
(Nuclear cap binding protein, 80kD); NCBP (Nuclear cap binding protein, 80kD);
NDP52 (Nuclear domain 10 protein); NFE2 (Nuclear factor (erythroid-derived 2),
45kD); NFKB1 (Nuclear factor of kappa light polypeptide gene enhancer in
B-cells 1 (p105)); NFKB2 (Nuclear factor of kappa light polypeptide gene
enhancer in B-cells 2 (p49/p100)); NFYA (Nuclear transcription factor Y,
alpha); NP (Nucleoside phosphorylase); NURR1 (Nuclear receptor related 1
(transcriptionally inducible)); ODC1 (Ornithine decarboxylase 1); PAX3 (Paired
box gene 3 (Waardenburg syndrome 1)); PBX1 (Pre-B-cell leukemia transcription
factor 1); PBX3 (Pre-B-cell leukemia transcription factor 3); PCNA
(Proliferating cell nuclear antigen); PEX6 (Peroxisomal biogenesis factor 6);
PITX2 (Paired-like homeodomain transcription factor 2); PML (Promyelocytic
leukemia); POU1F1 (POU domain, class 1, transcription factor 1 (Pit1, growth
hormone factor 1)); POU2AF1 (POU domain, class 2, associating factor 1); POU2F1
(POU domain, class 2, transcription factor 1); POU2F2 (POU domain, class 2,
transcription factor 2); POU3F1 (POU domain, class 3, transcription factor 1);
POU3F2 (POU domain, class 3, transcription factor 2); POU5F1 (POU domain, class
5, transcription factor 1); PPAT (Phosphoribosyl pyrophosphate
amidotransferase); PROP1 (Prophet of Pit1, paired-like homeodomain transcription
factor); PRPS1 (Phosphoribosyl pyrophosphate synthetase 1); PTB (Polypyrimidine
tract binding protein (heterogeneous nuclear ribonucleoprotein I)); RANBP2 (RAN
binding protein 2); RARB (Retinoic acid receptor, beta); RARG (Retinoic acid
receptor, gamma); RECQL (RecQ protein-like (DNA helicase Q1-like)); RENBP
(Renin-binding protein); RFX1 (Regulatory factor X, 1 (influences HLA class II
expression)); RFX2 (Regulatory factor X, 2 (influences HLA class II
expression)); RFX3 (Regulatory factor X, 3 (influences HLA class II
expression)); RFX4 (Regulatory factor X, 4 (influences HLA class II
expression)); RFX5 (Regulatory factor X, 5 (influences HLA class II
expression)); RFXAP (Regulatory factor X-associated protein); RXRA (Retinoid X
receptor, alpha); SATB1 (Special AT-rich sequence binding protein 1 (binds to
nuclear matrix/scaffold-associating DNA's)); SFRS7 (Splicing factor,
arginine/serine-rich 7 (35kD)); SKIL (SKI-like); SLUG (Slug (chicken homolog),
zinc finger protein); SMARCA2 (SWI/SNF related, matrix associated, actin
dependent regulator of chromatin, subfamily a, member 2); SON (SON DNA binding
protein); SOX4 (SRY (sex determining region Y)-box 4); SP100 (Nuclear antigen
Sp100); SPIB (Spi-B transcription factor (Spi-1/PU.1 related)); SRF (Serum response
factor (c-fos serum response element-binding transcription factor)); STAT3
(Signal transducer and activator of transcription 3 (acute-phase response
factor)); STAT4 (Signal transducer and activator of transcription 4); STAT5A
(Signal transducer and activator of transcription 5A); TAF2C2 (TATA box binding
protein (TBP)-associated factor, RNA polymerase II, C2, 105kD); TAL2 (T-cell
acute lymphocytic leukemia 2); TCEB1L (Transcription elongation factor B
(SIII), polypeptide 1-like); TCF1 (Transcription factor 1, hepatic; LF-B1,
hepatic nuclear factor (HNF1), albumin proximal factor); TCF12 (Transcription
factor 12 (HTF4, helix-loop-helix transcription factors 4)); TCF3
(Transcription factor 3 (E2A immunoglobulin enhancer binding factors E12/E47));
TCF7 (Transcription factor 7 (T-cell specific, HMG-box)); TCF8 (Transcription
factor 8 (represses interleukin 2 expression)); TCF9 (Transcription factor 9
(binds GC-rich sequences)); TEGT (Testis enhanced gene transcript); TFAP2B
(Transcription factor AP-2 beta (activating enhancer-binding protein 2 beta));
TFAP4 (Transcription factor AP-4 (activating enhancer-binding protein 4));
TFDP2 (Transcription factor Dp-2 (E2F dimerization partner 2)); THRA (Thyroid
hormone receptor, alpha (avian erythroblastic leukemia viral (v-erb-a) oncogene
homolog)); TIAL1 (TIA1 cytotoxic granule-associated RNA-binding protein-like
1); TK1 (Thymidine kinase 1, soluble); TOP1 (Topoisomerase (DNA) I); TOP2B
(Topoisomerase (DNA) II beta (180kD)); TP53 (Tumor protein p53 (Li-Fraumeni syndrome));
UBL1 (Ubiquitin-like 1 (sentrin)); WT1 (Wilms tumor 1); WT1 (Wilms tumor 1);
XPO1 (Exportin 1 (CRM1, yeast, homolog)); ZFP103 (Zinc finger protein
homologous to Zfp103 in mouse); ZFP36 (Zinc finger protein homologous to Zfp-36
in mouse); ZFP37 (Zinc finger protein homologous to Zfp37 in mouse); ZFP93
(Zinc finger protein); ZFX (Zinc finger protein, X-linked); ZFY (Zinc finger
protein, Y-linked); ZK1 (Kruppel-type zinc finger (C2H2)); ZNF10 (Zinc finger
protein 10 (KOX 1)); ZNF121 (Zinc finger protein 121 (clone ZHC32)); ZNF124
(Zinc finger protein 124 (HZF-16)); ZNF127 (Zinc finger protein 127); ZNF131
(Zinc finger protein 131 (clone pHZ-10)); ZNF132 (Zinc finger protein 132
(clone pHZ-12)); ZNF133 (Zinc finger protein 133 (clone pHZ-13)); ZNF134 (Zinc
finger protein 134 (clone pHZ-15)); ZNF135 (Zinc finger protein 135 (clone
pHZ-17)); ZNF136 (Zinc finger protein 136 (clone pHZ-20)); ZNF137 (Zinc finger
protein 137 (clone pHZ-30)); ZNF139 (Zinc finger protein 139 (clone pHZ-37));
ZNF140 (Zinc finger protein 140 (clone pHZ-39)); ZNF141 (Zinc finger protein
141 (clone pHZ-44)); ZNF142 (Zinc finger protein 142 (clone pHZ-49)); ZNF143
(Zinc finger protein 143 (clone pHZ-1)); ZNF144 (Zinc finger protein 144
(Mel-18)); ZNF145 (Zinc finger protein 145 (Kruppel-like, expressed in
promyelocytic leukemia)); ZNF147 (Zinc finger protein 147 (estrogen-responsive
finger protein)); ZNF148 (Zinc finger protein 148 (pHZ-52)); ZNF151 (Zinc
finger protein 151 (pHZ-67)); ZNF154 (Zinc finger protein 154 (pHZ-92)); ZNF155
(Zinc finger protein 155 (pHZ-96)); ZNF157 (Zinc finger protein 157 (HZF22));
ZNF162 (Zinc finger protein 162); ZNF165 (Zinc finger protein 165); ZNF169
(Zinc finger protein 169); ZNF173 (Zinc finger protein 173); ZNF177 (Zinc
finger protein 177); ZNF189 (Zinc finger protein 189); ZNF198 (Zinc finger
protein 198); ZNF2 (Zinc finger protein 2); ZNF20 (Zinc finger protein, C2H2,
rapidly turned over); ZNF200 (Zinc finger protein 200); ZNF202 (Zinc finger
protein 202); ZNF204 (Zinc finger protein 204); ZNF205 (Zinc finger protein
205); ZNF206 (Zinc finger protein 206); ZNF207 (Zinc finger protein 207);
ZNF239 (Zinc finger protein 239); ZNF259 (Zinc finger protein 259); ZNF261
(Zinc finger protein 261); ZNF262 (Zinc finger protein 262); ZNF263 (Zinc
finger protein 263); ZNF264 (Zinc finger protein 264); ZNF3 (Zinc finger
protein 3 (A8-51)); ZNF35 (Zinc finger protein 35 (clone HF.10)); ZNF37A (Zinc
finger protein 37a (KOX 21)); ZNF42 (Zinc finger protein 42 (myeloid-specific
retinoic acid- responsive)); ZNF44 (Zinc finger protein 44 (KOX 7)); ZNF45
(Zinc finger protein 45 (a Kruppel-associated box (KRAB) domain polypeptide));
ZNF6 (Zinc finger protein 6 (CMPX1)); ZNF7 (Zinc finger protein 7 (KOX 4, clone
HF.16)); ZNF74 (Zinc finger protein 74 (Cos52)); ZNF76 (Zinc finger protein 76
(expressed in testis)); ZNF8 (Zinc finger protein 8 (clone HF.18)); ZNF84 (Zinc
finger protein 84 (HPF2)); ZNF85 (Zinc finger protein 85); ZNF9 (Zinc finger
protein 9 (a cellular retroviral nucleic acid binding protein)); ZNF91 (Zinc finger
protein 91 (HPF7, HTF10));
【０１２３】
腫瘍抑制／発癌遺伝子
ABL1 (V-abl Abelson murine leukemia viral oncogene homolog 1); ABL2
(V-abl Abelson murine leukemia viral oncogene homolog 2 (arg, Abelson-related
gene)); AKT1 (V-akt murine thymoma viral oncogene homolog 1); AKT2 (V-akt
murine thymoma viral oncogene homolog 2); APC (Adenomatosis polyposis coli);
ARAF1 (V-raf murine sarcoma 3611 viral oncogene homolog 1); ARAF2 (V-raf murine
sarcoma 3611 viral oncogene homolog 2); ARHA (Ras homolog gene family, member
A); ARHB (Ras homolog gene family, member B); ARHC (Ras homolog gene family,
member C); AXL (AXL receptor tyrosine kinase); BCL2 (B-cell CLL/lymphoma 2);
BCL3 (B-cell CLL/lymphoma 3); BCR (Breakpoint cluster region); BLYM (Avian
lymphoma virus-derived transforming sequence); BMI1 (Murine leukemia viral
(bmi-1) oncogene homolog); BRAF (V-raf murine sarcoma viral oncogene homolog
B1); BRAFP (V-raf murine sarcoma viral oncogene homolog B1 pseudogene); CBFA2
(Core-binding factor, runt domain, alpha subunit 2 (acute myeloid leukemia 1;
aml1 oncogene)); CBL (Cas-Br-M (murine) ecotropic retroviral transforming
sequence); CCND1 (Cyclin D1 (PRAD1: parathyroid adenomatosis 1)); CDH1
(Cadherin 1, E-cadherin (epithelial)); CDK4 (Cyclin-dependent kinase 4); CDKN1A
(Cyclin-dependent kinase inhibitor 1A (p21, Cip1)); CDKN1C (Cyclin-dependent
kinase inhibitor 1C (p57, Kip2)); CDKN2A (Cyclin-dependent kinase inhibitor 2A
(melanoma, p16, inhibits CDK4)); CHES1 (Checkpoint suppressor 1); COT (Cot
(cancer Osaka thyroid) oncogene); CRK (V-crk avian sarcoma virus CT10 oncogene
homolog); CRKL (V-crk avian sarcoma virus CT10 oncogene homolog-like); CSF1R
(Colony stimulating factor 1 receptor, formerly McDonough feline sarcoma viral
(v-fms) oncogene homolog); D10S170 (DNA segment, single copy, probe pH4
(transforming sequence, thyroid-1,); DCC (Deleted in colorectal carcinoma);
DDX6 (DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 6 (RNA helicase, 54kD));
E2F1 (E2F transcription factor 1); ECT2 (Epithelial cell transforming sequence
2 oncogene); EGFR (Epidermal growth factor receptor (avian erythroblastic
leukemia viral (v-erb-b) oncogene homolog)); EIF3S6 (Eukaryotic translation
initiation factor 3, subunit 6 (48kD)); ELE1 (RET-activating gene ELE1); ELK1
(ELK1, member of ETS oncogene family); ELK2P1 (ELK2, member of ETS oncogene
family, pseudogene 1); ELK3 (ELK3, ETS-domain protein (SRF accessory protein 2)
NOTE: Symbol and name provisional.); EMP1 (Epithelial membrane protein 1); EMS1
(Ems1 sequence (mammary tumor and squamous cell carcinoma-associated (p80/85
src substrate)); EPHA1 (EphA1); EPHA3 (EphA3); ERBA2L (V-erb-a avian
erythroblastic leukemia viral oncogene homolog 2-like); ERBAL2 (V-erb-a avian
erythroblastic leukemia viral oncogene homolog-like 2); ERBB2 (V-erb-b2 avian
erythroblastic leukemia viral oncogene homolog 2 (neuro/glioblastoma derived
oncogene homolog)); ERBB3 (V-erb-b2 avian erythroblastic leukemia viral
oncogene homolog 3); ERBB4 (V-erb-a avian erythroblastic leukemia viral
oncogene homolog-like 4); ERG (V-ets avian erythroblastosis virus E26 oncogene
related); ETS1 (V-ets avian erythroblastosis virus E26 oncogene homolog 1);
ETS2 (V-ets avian erythroblastosis virus E26 oncogene homolog 2); ETV1 (Ets
variant gene 1); ETV3 (Ets variant gene 3); ETV6 (Ets variant gene 6 (TEL
oncogene)); EVI1 (Ecotropic viral integration site 1); EWSR1 (Ewing sarcoma
breakpoint region 1); FAT (FAT tumor suppressor (Drosophila) homolog); FER (Fer
(fps/fes related) tyrosine kinase (phosphoprotein NCP94)); FES (Feline sarcoma
(Snyder-Theilen) viral (v-fes)/Fujinami avian sarcoma (PRCII) viral (v-fps)
oncogene homolog); FGF3 (Fibroblast growth factor 3 (murine mammary tumor virus
integration site (v-int-2) oncogene homolog)); FGF4 (Fibroblast growth factor 4
(heparin secretory transforming protein 1, Kaposi sarcoma oncogene)); FGF6
(Fibroblast growth factor 6); FGR (Gardner-Rasheed feline sarcoma viral (v-fgr)
oncogene homolog); FKHL1 (Forkhead (Drosophila)-like 1); FLI1 (Friend leukemia
virus integration 1); FLT1 (Fms-related tyrosine kinase 1 (vascular endothelial
growth factor/vascular permeability factor receptor)); FOS (V-fos FBJ murine
osteosarcoma viral oncogene homolog); FOSB (FBJ murine osteosarcoma viral
oncogene homolog B); FOSL1 (FOS-like antigen-1); FOSL2 (FOS-like antigen 2);
FYN (FYN oncogene related to SRC, FGR, YES); GLI (Glioma-associated oncogene
homolog (zinc finger protein)); GLI2 (GLI-Kruppel family member GLI2); GLI3
(GLI-Kruppel family member GLI3 (Greig cephalopolysyndactyly syndrome)); GRF2
(Guanine nucleotide-releasing factor 2 (specific for crk proto-oncogene)); GRO1
(GRO1 oncogene (melanoma growth stimulating activity, alpha)); GRO2 (GRO2
oncogene); GRO3 (GRO3 oncogene); HCK (Hemopoietic cell kinase); HKR3
(GLI-Kruppel family member HKR3); HRAS (V-Ha-ras Harvey rat sarcoma viral
oncogene homolog); HRASP (V-Ha-ras Harvey rat sarcoma viral oncogene homolog
pseudogene); INT6P1 (Murine mammary tumor integration site 6 (oncogene homolog)
pseudogene 1); IRF4 (Interferon regulatory factor 4); JUN (V-jun avian sarcoma
virus 17 oncogene homolog); JUNB (Jun B proto-oncogene); JUND (Jun D
proto-oncogene); KAI1 (Kangai 1 (suppression of tumorigenicity 6, prostate;
CD82 antigen (R2 leukocyte antigen, antigen detected by monoclonal and antibody
IA4))); KIT (V-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog);
KRAS1P (V-Ki-ras1 Kirsten rat sarcoma 1 viral oncogene homolog, processed
pseudogene); KRAS2 (V-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog);
LBC (Lymphoid blast crisis oncogene); LCK (Lymphocyte-specific protein tyrosine
kinase); LCN2 (Lipocalin 2 (oncogene 24p3)); LCO (Liver cancer oncogene); LPSA
(Oncogene liposarcoma (DNA segment, single copy, expressed, probes); LTA
(Lymphotoxin alpha (TNF superfamily, member 1)); LTB (Lymphotoxin beta (TNF
superfamily, member 3)); LYN (V-yes-1 Yamaguchi sarcoma viral related oncogene
homolog); M1S1 (Membrane component, chromosome 1, surface marker 1 (40kD
glycoprotein, identified by monoclonal antibody GA733)); M4S1 (Membrane component,
chromosomal 4, surface marker (35kD glycoprotein)); MADH4 (MAD (mothers against
decapentaplegic, Drosophila) homolog 4); MAF (V-maf musculoaponeurotic
fibrosarcoma (avian) oncogene homolog); MAFG (V-maf musculoaponeurotic
fibrosarcoma (avian) oncogene family, protein G); MAFK (V-maf avian
musculoaponeurotic fibrosarcoma oncogene family, protein K); MAS1 (MAS1
oncogene); MAX (MAX protein); MCC (Mutated in colorectal cancers); MCF2 (MCF.2
cell line derived transforming sequence); MDM2 (Mouse double minute 2, human
homolog of; p53-binding protein); MEL (Mel transforming oncogene (derived from
cell line NK14)- RAB8 homolog); MELL1 (Mel transforming oncogene-like 1); MET
(Met proto-oncogene (hepatocyte growth factor receptor)); MLH1 (MutL (E. coli)
homolog 1 (colon cancer, nonpolyposis type 2)); MOS (V-mos Moloney murine
sarcoma viral oncogene homolog); MPL (Myeloproliferative leukemia virus
oncogene); MSH2 (MutS (E. coli) homolog 2 (colon cancer, nonpolyposis type 1));
MUM1 (Multiple myeloma oncogene 1); MYB (V-myb avian myeloblastosis viral
oncogene homolog); MYBL1 (V-myb avian myeloblastosis viral oncogene
homolog-like 1); MYBL2 (V-myb avian myeloblastosis viral oncogene homolog-like
2); MYC (V-myc avian myelocytomatosis viral oncogene homolog); MYCL1 (V-myc
avian myelocytomatosis viral oncogene homolog 1, lung carcinoma derived); MYCL2
(V-myc avian myelocytomatosis viral oncogene homolog 2); MYCLK1 (V-myc avian
myelocytomatosis viral oncogene homolog-like 1); MYCN (V-myc avian
myelocytomatosis viral related oncogene, neuroblastoma derived); MYCP (V-myc
avian myelocytomatosis viral oncogene homolog pseudogene); NBL1 (Neuroblastoma
candidate region, suppression of tumorigenicity 1); NF1 (Neurofibromin 1
(neurofibromatosis, von Recklinghausen disease, Watson disease)); NF2
(Neurofibromin 2 (bilateral acoustic neuroma)); NFKB2 (Nuclear factor of kappa
light polypeptide gene enhancer in B-cells 2 (p49/p100)); NKTR (Natural
killer-tumor recognition sequence); NOTCH4 (Notch (Drosophila) homolog 4); NOV
(Nephroblastoma overexpressed gene); NRAS (Neuroblastoma RAS viral (v-ras)
oncogene homolog); NRASL1 (Neuroblastoma RAS viral (v-ras) oncogene
homolog-like 1); NRASL2 (Neuroblastoma RAS viral (v-ras) oncogene homolog-like
2); NRASL3 (Neuroblastoma RAS viral (v-ras) oncogene homolog-like 3); NTRK1
(Neurotrophic tyrosine kinase, receptor, type 1); OVC (Oncogene OVC (ovarian
adenocarcinoma oncogene)); PACE (Paired basic amino acid cleaving enzyme
(furin, membrane associated receptor protein)); PDGFB (Platelet-derived growth
factor beta polypeptide (simian sarcoma viral (v-sis) oncogene homolog)); PIM1
(Pim-1 oncogene); PVT1 (Pvt-1 (murine) oncogene homolog, MYC activator); RAB1
(RAB1, member RAS oncogene family); RAB11A (RAB 11A, member oncogene family);
RAB11A (RAB11A, member RAS oncogene family); RAB13 (RAB13, member RAS oncogene
family); RAB2 (RAB2, member RAS oncogene family); RAB27A (RAB27A, member RAS
oncogene family); RAB27B (RAB27B, member RAS oncogene family); RAB2L (RAB2,
member RAS oncogene family-like); RAB3A (RAB3A, member RAS oncogene family);
RAB3B (RAB3B, member RAS oncogene family); RAB4 (RAB4, member RAS oncogene
family); RAB5A (RAB5A, member RAS oncogene family); RAB5B (RAB5B, member RAS
oncogene family); RAB6 (RAB6, member RAS oncogene family); RAB7L1 (RAB7, member
RAS oncogene family-like 1); RABL (RAB, member of RAS oncogene family-like);
RAF1 (V-raf-1 murine leukemia viral oncogene homolog 1); RAF1P1 (V-raf-1 murine
leukemia viral oncogene homolog 1 pseudogene 1); RALA (V-ral simian leukemia
viral oncogene homolog A (ras related)); RALB (V-ral simian leukemia viral
oncogene homolog B (ras related; GTP binding protein)); RAN (RAN, member RAS
oncogene family); RAP1A (RAP1A, member of RAS oncogene family); RAP1AP (RAP1A,
member of RAS oncogene family pseudogene); RAP1B (RAP1B, member of RAS oncogene
family); RAP2A (RAP2A, member of RAS oncogene family); RAP2B (RAP2B, member of
RAS oncogene family); RB1 (Retinoblastoma 1 (including osteosarcoma)); REL
(V-rel avian reticuloendotheliosis viral oncogene homolog); RELA (V-rel avian
reticuloendotheliosis viral oncogene homolog A (nuclear factor of kappa light
polypeptide gene enhancer in B-cells 3 (p65))); RELB (V-rel avian
reticuloendotheliosis viral oncogene homolog B (nuclear factor of kappa light
polypeptide gene enhancer in B-cells 3)); RET (Ret proto-oncogene (multiple
endocrine neoplasia MEN2A, MEN2B and medullary thyroid carcinoma 1,
Hirschsprung disease)); ROS1 (V-ros avian UR2 sarcoma virus oncogene homolog
1); RRAS (Related RAS viral (r-ras) oncogene homolog); SEA (S13 avian
erythroblastosis oncogene homolog); SKI (V-ski avian sarcoma viral oncogene
homolog); SMARCB1 (SWI/SNF related, matrix associated, actin dependent
regulator of chromatin, subfamily b, member 1); SPI1 (Spleen focus forming
virus (SFFV) proviral integration oncogene spi1); SPINK1 (Serine protease
inhibitor, Kazal type 1); SRC (V-src avian sarcoma (Schmidt-Ruppin A-2) viral
oncogene homolog); ST5 (Suppression of tumorigenicity 5); SUPT3H (Suppressor of
Ty (S.cerevisiae) 3 homolog); SUPT5H (Suppressor of Ty (S.cerevisiae) 5
homolog); SUPT6H (Suppressor of Ty (S.cerevisiae) 6 homolog); TAL1 (T-cell
acute lymphocytic leukemia 1); TGFBR2 (Transforming growth factor, beta
receptor II (70-80kD)); THPO (Thrombopoietin (myeloproliferative leukemia virus
oncogene ligand, megakaryocyte growth and development factor)); THRA (Thyroid
hormone receptor, alpha (avian erythroblastic leukemia viral (v-erb-a) oncogene
homolog)); THRB (Thyroid hormone receptor, beta (avian erythroblastic leukemia
viral (v-erb-a) oncogene homolog 2)); TIAM1 (T-cell lymphoma invasion and
metastasis 1); TIM (Oncogene TIM); TM4SF1 (Transmembrane 4 superfamily member
1); TNF (Tumor necrosis factor (TNF superfamily, member 2)); TP53BP2 (Tumor
protein p53-binding protein, 2); TP73 (Tumor protein p73); TPR (Translocated
promoter region (to activated MET oncogene)); TRE17 (Tre-2 oncogene); USP4
(Ubiquitin specific protease 4 (proto-oncogene)); USP6 (Ubiquitin specific
protease 6 (Tre-2 oncogene)); VAV1 (Vav 1 oncogene); VAV2 (Vav 2 oncogene); VHL
(Von Hippel-Lindau syndrome); WNT1 (Wingless-type MMTV integration site family,
member 1); WNT2 (Wingless-type MMTV integration site family member 2); WNT5A
(Wingless-type MMTV integration site family, member 5A); WT1 (Wilms tumor 1);
YES1 (V-yes-1 Yamaguchi sarcoma viral oncogene homolog 1); YESP (V-yes-1
Yamaguchi sarcoma viral oncogene homolog pseudogene); AMPHL (Amphiphysin-like);
APC (Adenomatosis polyposis coli); ARHA (Ras homolog gene family, member A);
ARHB (Ras homolog gene family, member B); ARHC (Ras homolog gene family, member
C); AXL (AXL receptor tyrosine kinase); BCL2 (B-cell CLL/lymphoma 2); BCL3
(B-cell CLL/lymphoma 3); BCR (Breakpoint cluster region); BLYM (Avian lymphoma
virus-derived transforming sequence); BRCA1 (Breast cancer 1, early onset);
BRCA2 (Breast cancer 2, early onset); CBL (Cas-Br-M (murine) ecotropic
retroviral transforming sequence); CCND1 (Cyclin D1 (PRAD1: parathyroid
adenomatosis 1)); CDH1 (Cadherin 1, E-cadherin (epithelial)); CDK4
(Cyclin-dependent kinase 4); CDKN1A (Cyclin-dependent kinase inhibitor 1A (p21,
Cip1)); CDKN1C (Cyclin-dependent kinase inhibitor 1C (p57, Kip2)); CDKN2A
(Cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)); CDKN2B
(Cyclin-dependent kinase inhibitor 2B (p15, inhibits CDK4)); CHES1 (Checkpoint
suppressor 1); D10S170 (DNA segment, single copy, probe pH4 (transforming
sequence, thyroid-1,); DCC (Deleted in colorectal carcinoma); DDX6 (DEAD/H
(Asp-Glu-Ala-Asp/His) box polypeptide 6 (RNA helicase, 54kD)); E2F1 (E2F transcription
factor 1); EIF3S6 (Eukaryotic translation initiation factor 3, subunit 6
(48kD)); ELE1 (RET-activating gene ELE1); ELK3 (ELK3, ETS-domain protein (SRF
accessory protein 2) NOTE: Symbol and name provisional.); EMP1 (Epithelial
membrane protein 1); EMS1 (Ems1 sequence (mammary tumor and squamous cell
carcinoma-associated (p80/85 src substrate)); EPHA1 (EphA1); EPHA3 (EphA3);
ETV3 (Ets variant gene 3); EVI1 (Ecotropic viral integration site 1); EWSR1
(Ewing sarcoma breakpoint region 1); FAT (FAT tumor suppressor (Drosophila)
homolog); FER (Fer (fps/fes related) tyrosine kinase (phosphoprotein NCP94));
FHIT (Fragile histidine triad gene); FKHL1 (Forkhead (Drosophila)-like 1); FLT1
(Fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular
permeability factor receptor)); FOSL1 (FOS-like antigen-1); FOSL2 (FOS-like
antigen 2); GLI2 (GLI-Kruppel family member GLI2); GLI3 (GLI-Kruppel family
member GLI3 (Greig cephalopolysyndactyly syndrome)); HCK (Hemopoietic cell
kinase); HKR3 (GLI-Kruppel family member HKR3); ING1 (Inhibitor of growth 1);
IRF4 (Interferon regulatory factor 4); KAI1 (Kangai 1 (suppression of
tumorigenicity 6, prostate; CD82 antigen (R2 leukocyte antigen, antigen
detected by monoclonal and antibody IA4))); LCK (Lymphocyte-specific protein
tyrosine kinase); LTA (Lymphotoxin alpha (TNF superfamily, member 1)); LTB
(Lymphotoxin beta (TNF superfamily, member 3)); M1S1 (Membrane component,
chromosome 1, surface marker 1 (40kD glycoprotein, identified by monoclonal
antibody GA733)); M4S1 (Membrane component, chromosomal 4, surface marker (35kD
glycoprotein)); MADH4 (MAD (mothers against decapentaplegic, Drosophila)
homolog 4); MAX (MAX protein); MCC (Mutated in colorectal cancers); MEN1
(Multiple endocrine neoplasia I); MLH1 (MutL (E. coli) homolog 1 (colon cancer,
nonpolyposis type 2)); MSH2 (MutS (E. coli) homolog 2 (colon cancer,
nonpolyposis type 1)); NBL1 (Neuroblastoma candidate region, suppression of
tumorigenicity 1); NF1 (Neurofibromin 1 (neurofibromatosis, von Recklinghausen
disease, Watson disease)); NF2 (Neurofibromin 2 (bilateral acoustic neuroma));
NFKB2 (Nuclear factor of kappa light polypeptide gene enhancer in B-cells 2
(p49/p100)); NKTR (Natural killer-tumor recognition sequence); NME1
(Non-metastatic cells 1, protein (NM23A) expressed in); NOV (Nephroblastoma
overexpressed gene); NTRK1 (Neurotrophic tyrosine kinase, receptor, type 1);
PDGFRL (Platelet-derived growth factor receptor-like); PLA2G2A (Phospholipase
A2, group IIA (platelets, synovial fluid)); PTCH (Patched (Drosophila)
homolog); PTEN (Phosphatase and tensin homolog (mutated in multiple advanced
cancers 1)); RB1 (Retinoblastoma 1 (including osteosarcoma)); SMARCB1 (SWI/SNF
related, matrix associated, actin dependent regulator of chromatin, subfamily
b, member 1); SPINK1 (Serine protease inhibitor, Kazal type 1); ST5
(Suppression of tumorigenicity 5); SUPT3H (Suppressor of Ty (S.cerevisiae) 3
homolog); SUPT5H (Suppressor of Ty (S.cerevisiae) 5 homolog); SUPT6H
(Suppressor of Ty (S.cerevisiae) 6 homolog); TAL1 (T-cell acute lymphocytic
leukemia 1); TGFBR2 (Transforming growth factor, beta receptor II (70-80kD));
TIAM1 (T-cell lymphoma invasion and metastasis 1); TIM (Oncogene TIM); TM4SF1
(Transmembrane 4 superfamily member 1); TNF (Tumor necrosis factor (TNF superfamily,
member 2)); TP53 (Tumor protein p53 (Li-Fraumeni syndrome)); TP53BP2 (Tumor
protein p53-binding protein, 2); TP73 (Tumor protein p73); VHL (Von
Hippel-Lindau syndrome); WNT1 (Wingless-type MMTV integration site family,
member 1); WNT2 (Wingless-type MMTV integration site family member 2); WNT5A
(Wingless-type MMTV integration site family, member 5A); WT1 (Wilms tumor 1)