TaoMedAI/RareMedData huggingface dataset:
Rare disease: Achromatopsia (Orphanet code 49382)
Associated genes:
Name: phosphodiesterase 6C
Symbol: PDE6C
Synonyms: lang: en
text: ACHM5
lang: en
text: COD4
lang: en
text: Cone cGMP-specific 3',5'-cyclic phosphodiesterase subunit alpha
lang: en
text: PDEA2
GeneType: Name: gene with protein product
Name: retinitis pigmentosa GTPase regulator
Symbol: RPGR
Synonyms: lang: en
text: CORDX1
GeneType: Name: gene with protein product
Name: cyclic nucleotide gated channel subunit alpha 3
Symbol: CNGA3
Synonyms: lang: en
text: CCNC1
lang: en
text: CCNCa
lang: en
text: CNG3
GeneType: Name: gene with protein product
Name: cyclic nucleotide gated channel subunit beta 3
Symbol: CNGB3
GeneType: Name: gene with protein product
Name: phosphodiesterase 6H
Symbol: PDE6H
Synonyms: lang: en
text: retinal cone rhodopsin-sensitive cGMP 3',5'-cyclic phosphodiesterase subunit gamma
GeneType: Name: gene with protein product
Name: G protein subunit alpha transducin 2
Symbol: GNAT2
Synonyms: lang: en
text: ACHM4
GeneType: Name: gene with protein product
Name: activating transcription factor 6
Symbol: ATF6
Synonyms: lang: en
text: ATF6A
lang: en
text: ATP6alpha
lang: en
text: activating transcription factor 6 alpha
GeneType: Name: gene with protein product
Rare disease: Combined immunodeficiency due to CD70 deficiency (Orphanet code 538958)
Associated genes:
Name: CD70 molecule
Symbol: CD70
Synonyms: lang: en
text: CD27 ligand
lang: en
text: CD27-L
lang: en
text: CD27L
lang: en
text: CD70 antigen
GeneType: Name: gene with protein product
Rare disease: Congenital cataracts-facial dysmorphism-neuropathy syndrome (Orphanet code 48431)
Associated genes:
Name: CTD phosphatase subunit 1
Symbol: CTDP1
Synonyms: lang: en
text: FCP1
GeneType: Name: gene with protein product
Rare disease: Combined immunodeficiency due to ITK deficiency (Orphanet code 538963)
Associated genes:
Name: IL2 inducible T cell kinase
Symbol: ITK
Synonyms: lang: en
text: EMT
lang: en
text: LYK
lang: en
text: PSCTK2
GeneType: Name: gene with protein product
Rare disease: Craniolenticulosutural dysplasia (Orphanet code 50814)
Associated genes:
Name: SEC23 homolog A, COPII coat complex component
Symbol: SEC23A
GeneType: Name: gene with protein product
Rare disease: Thiamine-responsive megaloblastic anemia syndrome (Orphanet code 49827)
Associated genes:
Name: solute carrier family 19 member 2
Symbol: SLC19A2
Synonyms: lang: en
text: THTR1
lang: en
text: ThT1
lang: en
text: Thiamine transporter 1
lang: en
text: thiamine-responsive megaloblastic anaemia
GeneType: Name: gene with protein product
Rare disease: Pleural mesothelioma (Orphanet code 50251)
Associated genes:
Name: BRCA1 associated protein 1
Symbol: BAP1
Synonyms: lang: en
text: KIAA0272
lang: en
text: UCHL2
lang: en
text: hucep-6
lang: en
text: ubiquitin carboxy-terminal hydrolase
GeneType: Name: gene with protein product
Rare disease: Blomstrand lethal chondrodysplasia (Orphanet code 50945)
Associated genes:
Name: parathyroid hormone 1 receptor
Symbol: PTH1R
GeneType: Name: gene with protein product
Rare disease: Schöpf-Schulz-Passarge syndrome (Orphanet code 50944)
Associated genes:
Name: Wnt family member 10A
Symbol: WNT10A
GeneType: Name: gene with protein product
Rare disease: Familial short QT syndrome (Orphanet code 51083)
Associated genes:
Name: solute carrier family 4 member 3
Symbol: SLC4A3
Synonyms: lang: en
text: AE3
lang: en
text: Anion exchanger 3, neuronal
lang: en
text: SLC2C
GeneType: Name: gene with protein product
Name: potassium inwardly rectifying channel subfamily J member 2
Symbol: KCNJ2
Synonyms: lang: en
text: IRK1
lang: en
text: Kir2.1
lang: en
text: LQT7
GeneType: Name: gene with protein product
Name: potassium voltage-gated channel subfamily H member 2
Symbol: KCNH2
Synonyms: lang: en
text: HERG
lang: en
text: Kv11.1
lang: en
text: erg1
lang: en
text: human ether-a-go-go-related gene
lang: en
text: long QT syndrome type 2
GeneType: Name: gene with protein product
Name: potassium voltage-gated channel subfamily Q member 1
Symbol: KCNQ1
Synonyms: lang: en
text: JLNS1
lang: en
text: Jervell and Lange-Nielsen syndrome 1
lang: en
text: KCNA8
lang: en
text: KVLQT1
lang: en
text: Kv7.1
lang: en
text: LQT1
GeneType: Name: gene with protein product
Name: calcium voltage-gated channel auxiliary subunit alpha2delta 1
Symbol: CACNA2D1
Synonyms: lang: en
text: alpha2delta-1
lang: en
text: lncRNA-N3
GeneType: Name: gene with protein product
Rare disease: Keratolytic winter erythema (Orphanet code 50943)
Associated genes:
Name: cathepsin B
Symbol: CTSB
GeneType: Name: gene with protein product
Rare disease: Striate palmoplantar keratoderma (Orphanet code 50942)
Associated genes:
Name: desmoplakin
Symbol: DSP
Synonyms: lang: en
text: DPI
lang: en
text: DPII
lang: en
text: KPPS2
lang: en
text: PPKS2
GeneType: Name: gene with protein product
Name: keratin 1
Symbol: KRT1
Synonyms: lang: en
text: KRT1A
GeneType: Name: gene with protein product
Name: desmoglein 1
Symbol: DSG1
Synonyms: lang: en
text: CDHF4
GeneType: Name: gene with protein product
Rare disease: Potocki-Shaffer syndrome (Orphanet code 52022)
Associated genes:
Name: ALX homeobox 4
Symbol: ALX4
Synonyms: lang: en
text: FPP
lang: en
text: KIAA1788
lang: en
text: PFM
GeneType: Name: gene with protein product
Name: exostosin glycosyltransferase 2
Symbol: EXT2
Synonyms: lang: en
text: Glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase
lang: en
text: N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase
lang: en
text: SOTV
GeneType: Name: gene with protein product
Name: PHD finger protein 21A
Symbol: PHF21A
Synonyms: lang: en
text: BHC80
lang: en
text: BM-006
lang: en
text: KIAA1696
GeneType: Name: gene with protein product
Rare disease: Generalized arterial calcification of infancy (Orphanet code 51608)
Associated genes:
Name: ATP binding cassette subfamily C member 6
Symbol: ABCC6
Synonyms: lang: en
text: EST349056
lang: en
text: MLP1
lang: en
text: MRP6
lang: en
text: URG7
GeneType: Name: gene with protein product
Name: ectonucleotide pyrophosphatase/phosphodiesterase 1
Symbol: ENPP1
Synonyms: lang: en
text: PC-1
lang: en
text: PCA1
GeneType: Name: gene with protein product
Rare disease: Ethylmalonic encephalopathy (Orphanet code 51188)
Associated genes:
Name: ETHE1 persulfide dioxygenase
Symbol: ETHE1
Synonyms: lang: en
text: HSCO
lang: en
text: YF13H12
GeneType: Name: gene with protein product
Rare disease: Growth delay-intellectual disability-hepatopathy syndrome (Orphanet code 541423)
Associated genes:
Name: isoleucyl-tRNA synthetase 1
Symbol: IARS1
Synonyms: lang: en
text: IARS1
lang: en
text: ILRS
lang: en
text: isoleucine tRNA ligase 1, cytoplasmic
GeneType: Name: gene with protein product
Rare disease: Formiminoglutamic aciduria (Orphanet code 51208)
Associated genes:
Name: formimidoyltransferase cyclodeaminase
Symbol: FTCD
GeneType: Name: gene with protein product
Rare disease: WHIM syndrome (Orphanet code 51636)
Associated genes:
Name: C-X-C motif chemokine receptor 4
Symbol: CXCR4
Synonyms: lang: en
text: CD184
lang: en
text: D2S201E
lang: en
text: HM89
lang: en
text: HSY3RR
lang: en
text: LESTR
lang: en
text: NPY3R
lang: en
text: NPYR
lang: en
text: NPYY3R
lang: en
text: fusin
GeneType: Name: gene with protein product
Rare disease: GNB5-related intellectual disability-cardiac arrhythmia syndrome (Orphanet code 542306)
Associated genes:
Name: G protein subunit beta 5
Symbol: GNB5
Synonyms: lang: en
text: GB5
lang: en
text: Guanine nucleotide-binding protein subunit beta-5
lang: en
text: Transducin beta chain 5
GeneType: Name: gene with protein product
Rare disease: Combined immunodeficiency due to CARMIL2 deficiency (Orphanet code 542301)
Associated genes:
Name: capping protein regulator and myosin 1 linker 2
Symbol: CARMIL2
Synonyms: lang: en
text: LRRC16C
lang: en
text: RGD, leucine-rich repeat, tropomodulin and proline-rich containing protein
lang: en
text: leucine rich repeat containing 16C
GeneType: Name: gene with protein product
Rare disease: Leukoencephalopathy with calcifications and cysts (Orphanet code 542310)
Associated genes:
Name: small nucleolar RNA, C/D box 118
Symbol: SNORD118
Synonyms: lang: en
text: U8
GeneType: Name: Non-coding RNA
Rare disease: Tietz syndrome (Orphanet code 42665)
Associated genes:
Name: melanocyte inducing transcription factor
Symbol: MITF
Synonyms: lang: en
text: MI
lang: en
text: bHLHe32
lang: en
text: homolog of mouse microphthalmia
GeneType: Name: gene with protein product
Rare disease: Auditory neuropathy-optic atrophy syndrome (Orphanet code 542585)
Associated genes:
Name: ferredoxin reductase
Symbol: FDXR
Synonyms: lang: en
text: ADR
lang: en
text: AR
lang: en
text: Ferredoxin--NADP(+) reductase
lang: en
text: adrenodoxin reductase
lang: en
text: adrenodoxin-NADP(+) reductase
GeneType: Name: gene with protein product
Rare disease: Hereditary myopathy with lactic acidosis due to ISCU deficiency (Orphanet code 43115)
Associated genes:
Name: iron-sulfur cluster assembly enzyme
Symbol: ISCU
Synonyms: lang: en
text: ISU2
lang: en
text: IscU
lang: en
text: hnifU
GeneType: Name: gene with protein product
Rare disease: Miyoshi myopathy (Orphanet code 45448)
Associated genes:
Name: dysferlin
Symbol: DYSF
Synonyms: lang: en
text: FER1L1
lang: en
text: fer-1-like family member 1
GeneType: Name: gene with protein product
Rare disease: Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome (Orphanet code 543470)
Associated genes:
Name: ferredoxin reductase
Symbol: FDXR
Synonyms: lang: en
text: ADR
lang: en
text: AR
lang: en
text: Ferredoxin--NADP(+) reductase
lang: en
text: adrenodoxin reductase
lang: en
text: adrenodoxin-NADP(+) reductase
GeneType: Name: gene with protein product
Rare disease: Isolated hyperchlorhidrosis (Orphanet code 542657)
Associated genes:
Name: carbonic anhydrase 12
Symbol: CA12
Synonyms: lang: en
text: HsT18816
GeneType: Name: gene with protein product
Rare disease: Gastrointestinal stromal tumor (Orphanet code 44890)
Associated genes:
Name: succinate dehydrogenase complex flavoprotein subunit A
Symbol: SDHA
Synonyms: lang: en
text: FP
lang: en
text: SDHF
lang: en
text: flavoprotein subunit of complex II
lang: en
text: succinate dehydrogenase [ubiquinone] flavoprotein subunit
GeneType: Name: gene with protein product
Name: succinate dehydrogenase complex iron sulfur subunit B
Symbol: SDHB
Synonyms: lang: en
text: iron-sulfur subunit of complex II
lang: en
text: succinate dehydrogenase [ubiquinone] iron-sulfur subunit
GeneType: Name: gene with protein product
Name: succinate dehydrogenase complex subunit C
Symbol: SDHC
Synonyms: lang: en
text: CYB560
lang: en
text: cybL
lang: en
text: large subunit of cytochrome b
lang: en
text: succinate dehydrgenase cytochrome b
lang: en
text: succinate dehydrogenase cytochrome b560 subunit
GeneType: Name: gene with protein product
Name: KIT proto-oncogene, receptor tyrosine kinase
Symbol: KIT
Synonyms: lang: en
text: C-Kit
lang: en
text: CD117
lang: en
text: SCFR
lang: en
text: mast/stem cell growth factor receptor Kit
GeneType: Name: gene with protein product
Name: KIT proto-oncogene, receptor tyrosine kinase
Symbol: KIT
Synonyms: lang: en
text: C-Kit
lang: en
text: CD117
lang: en
text: SCFR
lang: en
text: mast/stem cell growth factor receptor Kit
GeneType: Name: gene with protein product
Name: platelet derived growth factor receptor alpha
Symbol: PDGFRA
Synonyms: lang: en
text: CD140a
lang: en
text: GAS9
lang: en
text: PDGFR2
GeneType: Name: gene with protein product
Rare disease: Congenital fibrosis of extraocular muscles (Orphanet code 45358)
Associated genes:
Name: collagen type XXV alpha 1 chain
Symbol: COL25A1
GeneType: Name: gene with protein product
Name: tubulin alpha 1a
Symbol: TUBA1A
Synonyms: lang: en
text: B-ALPHA-1
lang: en
text: FLJ25113
lang: en
text: TUBA3
lang: en
text: Tubulin, alpha, brain-specific
lang: en
text: tubulin, alpha, brain-specific
GeneType: Name: gene with protein product
Name: paired like homeobox 2A
Symbol: PHOX2A
Synonyms: lang: en
text: CFEOM2
lang: en
text: PMX2A
GeneType: Name: gene with protein product
Name: kinesin family member 21A
Symbol: KIF21A
Synonyms: lang: en
text: FLJ20052
GeneType: Name: gene with protein product
Name: tubulin beta 3 class III
Symbol: TUBB3
Synonyms: lang: en
text: CFEOM3
lang: en
text: CFEOM3A
lang: en
text: beta-4
lang: en
text: class III beta-tubulin
GeneType: Name: gene with protein product
Name: tubulin beta 2B class IIb
Symbol: TUBB2B
Synonyms: lang: en
text: DKFZp566F223
lang: en
text: MGC8685
lang: en
text: bA506K6.1
lang: en
text: class IIb beta-tubulin
GeneType: Name: gene with protein product
Rare disease: SYNGAP1-related developmental and epileptic encephalopathy (Orphanet code 544254)
Associated genes:
Name: synaptic Ras GTPase activating protein 1
Symbol: SYNGAP1
Synonyms: lang: en
text: KIAA1938
lang: en
text: RASA5
lang: en
text: SYNGAP
GeneType: Name: gene with protein product
Rare disease: Paroxysmal extreme pain disorder (Orphanet code 46348)
Associated genes:
Name: sodium voltage-gated channel alpha subunit 10
Symbol: SCN10A
Synonyms: lang: en
text: Nav1.8
lang: en
text: PN3
lang: en
text: SNS
lang: en
text: hPN3
lang: en
text: peripheral nerve sodium channel 3
lang: en
text: sensory neuron sodium channel
GeneType: Name: gene with protein product
Name: sodium voltage-gated channel alpha subunit 11
Symbol: SCN11A
Synonyms: lang: en
text: NaN
lang: en
text: Nav1.9
lang: en
text: SNS-2
GeneType: Name: gene with protein product
Name: sodium voltage-gated channel alpha subunit 9
Symbol: SCN9A
Synonyms: lang: en
text: ETHA
lang: en
text: NE-NA
lang: en
text: NENA
lang: en
text: Nav1.7
lang: en
text: PN1
GeneType: Name: gene with protein product
Rare disease: Lathosterolosis (Orphanet code 46059)
Associated genes:
Name: sterol-C5-desaturase
Symbol: SC5D
Synonyms: lang: en
text: delta(7)-sterol 5(6)-desaturase
lang: en
text: lathosterol oxidase
GeneType: Name: gene with protein product
Rare disease: Hereditary papillary renal cell carcinoma (Orphanet code 47044)
Associated genes:
Name: MET proto-oncogene, receptor tyrosine kinase
Symbol: MET
Synonyms: lang: en
text: DFNB97
lang: en
text: HGFR
lang: en
text: RCCP2
lang: en
text: hepatocyte growth factor receptor
GeneType: Name: gene with protein product
Rare disease: Char syndrome (Orphanet code 46627)
Associated genes:
Name: transcription factor AP-2 beta
Symbol: TFAP2B
Synonyms: lang: en
text: AP-2beta
lang: en
text: AP2-B
GeneType: Name: gene with protein product
Rare disease: Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome (Orphanet code 46532)
Associated genes:
Name: hemoglobin subunit beta
Symbol: HBB
Synonyms: lang: en
text: CD113t-C
lang: en
text: beta-globin
GeneType: Name: gene with protein product
Name: hemoglobin subunit gamma 1
Symbol: HBG1
Synonyms: lang: en
text: HBG-T2
lang: en
text: fetal hemoglobin F subunit gamma 1
GeneType: Name: gene with protein product
Name: hemoglobin subunit gamma 2
Symbol: HBG2
Synonyms: lang: en
text: HBG-T1
lang: en
text: fetal hemoglobin F subunit gamma 2
GeneType: Name: gene with protein product
Name: KLF transcription factor 1
Symbol: KLF1
Synonyms: lang: en
text: EKLF
lang: en
text: erythroid Kruppel-like factor
GeneType: Name: gene with protein product
Rare disease: RNF13-related severe early-onset epileptic encephalopathy (Orphanet code 544503)
Associated genes:
Name: ring finger protein 13
Symbol: RNF13
Synonyms: lang: en
text: RZF
GeneType: Name: gene with protein product
Rare disease: Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome (Orphanet code 544488)
Associated genes:
Name: ornithine decarboxylase 1
Symbol: ODC1
Synonyms: lang: en
text: ODC
GeneType: Name: gene with protein product
Rare disease: PRUNE1-related neurological syndrome (Orphanet code 544469)
Associated genes:
Name: prune exopolyphosphatase 1
Symbol: PRUNE1
Synonyms: lang: en
text: DRES-17
lang: en
text: H-PRUNE
lang: en
text: HTCD37
GeneType: Name: gene with protein product
Rare disease: Atypical hemolytic uremic syndrome with complement gene abnormality (Orphanet code 544472)
Associated genes:
Name: thrombomodulin
Symbol: THBD
Synonyms: lang: en
text: BDCA-3
lang: en
text: CD141
lang: en
text: THRM
lang: en
text: fetomodulin
GeneType: Name: gene with protein product
Name: complement C3
Symbol: C3
Synonyms: lang: en
text: ARMD9
lang: en
text: C3a
lang: en
text: C3a anaphylatoxin
lang: en
text: C3b
lang: en
text: CPAMD1
lang: en
text: complement component C3a
lang: en
text: complement component C3b
lang: en
text: prepro-C3
GeneType: Name: gene with protein product
Name: CD46 molecule
Symbol: CD46
Synonyms: lang: en
text: MGC26544
lang: en
text: TLX
lang: en
text: TRA2.10
lang: en
text: trophoblast-lymphocyte cross-reactive antigen
GeneType: Name: gene with protein product
Name: complement factor B
Symbol: CFB
Synonyms: lang: en
text: H2-Bf
lang: en
text: properdin B
lang: en
text: properdin factor B
GeneType: Name: gene with protein product
Name: complement factor H
Symbol: CFH
Synonyms: lang: en
text: ARMD4
lang: en
text: ARMS1
lang: en
text: FHL1
lang: en
text: H factor 2 (complement)
lang: en
text: HUS
lang: en
text: age-related maculopathy susceptibility 1
lang: en
text: beta-1H
GeneType: Name: gene with protein product
Name: complement factor I
Symbol: CFI
Synonyms: lang: en
text: C3b-INA
lang: en
text: C3b-inactivator
lang: en
text: FI
lang: en
text: KAF
lang: en
text: Konglutinogen-activating factor
GeneType: Name: gene with protein product
Rare disease: Familial cold urticaria (Orphanet code 47045)
Associated genes:
Name: NLR family pyrin domain containing 3
Symbol: NLRP3
Synonyms: lang: en
text: AGTAVPRL
lang: en
text: AII
lang: en
text: AVP
lang: en
text: CLR1.1
lang: en
text: Cryopyrin
lang: en
text: FCAS
lang: en
text: FCU
lang: en
text: MWS
lang: en
text: NALP3
lang: en
text: PYPAF1
lang: en
text: nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 3
GeneType: Name: gene with protein product
Rare disease: Atypical Fanconi syndrome-neonatal hyperinsulinism syndrome (Orphanet code 544628)
Associated genes:
Name: hepatocyte nuclear factor 4 alpha
Symbol: HNF4A
Synonyms: lang: en
text: HNF4
lang: en
text: NR2A1
GeneType: Name: gene with protein product
Rare disease: Congenital myopathy with reduced type 2 muscle fibers (Orphanet code 544602)
Associated genes:
Name: myosin light chain 1
Symbol: MYL1
Synonyms: lang: en
text: MLC-1
lang: en
text: MLC1
lang: en
text: MLC1/3
lang: en
text: MLC1F
lang: en
text: MLC3F
lang: en
text: Myosin light chain 1/3, skeletal muscle isoform
GeneType: Name: gene with protein product
Rare disease: NAD(P)HX dehydratase deficiency (Orphanet code 555402)
Associated genes:
Name: NAD(P)HX dehydratase
Symbol: NAXD
Synonyms: lang: en
text: ATP-dependent NAD(P)H-hydrate dehydratase
lang: en
text: FLJ10769
lang: en
text: LP3298
GeneType: Name: gene with protein product
Rare disease: NAD(P)HX epimerase deficiency (Orphanet code 555407)
Associated genes:
Name: NAD(P)HX epimerase
Symbol: NAXE
Synonyms: lang: en
text: AIBP
lang: en
text: MGC119143
lang: en
text: MGC119144
lang: en
text: MGC119145
lang: en
text: NAD(P)H-hydrate epimerase
lang: en
text: YJEFN1
lang: en
text: apoA-I binding protein
GeneType: Name: gene with protein product
Rare disease: FLNA-related X-linked myxomatous valvular dysplasia (Orphanet code 555877)
Associated genes:
Name: filamin A
Symbol: FLNA
Synonyms: lang: en
text: ABP-280
lang: en
text: actin binding protein 280
lang: en
text: alpha filamin
GeneType: Name: gene with protein product
Rare disease: Early-onset familial hypoaldosteronism (Orphanet code 556030)
Associated genes:
Name: cytochrome P450 family 11 subfamily B member 2
Symbol: CYP11B2
Synonyms: lang: en
text: ALDOS
lang: en
text: CPN2
lang: en
text: CYP11BL
lang: en
text: P-450C18
lang: en
text: P450aldo
lang: en
text: steroid 11-beta-monooxygenase
GeneType: Name: gene with protein product
Rare disease: Early-onset calcifying leukoencephalopathy-skeletal dysplasia (Orphanet code 556985)
Associated genes:
Name: colony stimulating factor 1 receptor
Symbol: CSF1R
Synonyms: lang: en
text: C-FMS
lang: en
text: CD115
lang: en
text: CSFR
GeneType: Name: gene with protein product
Rare disease: Pancreatic agenesis-holoprosencephaly syndrome (Orphanet code 556955)
Associated genes:
Name: CCR4-NOT transcription complex subunit 1
Symbol: CNOT1
Synonyms: lang: en
text: AD-005
lang: en
text: CDC39
lang: en
text: KIAA1007
lang: en
text: NOT1H
GeneType: Name: gene with protein product
Rare disease: Neonatal epileptic encephalopathy due to glutaminase deficiency (Orphanet code 557064)
Associated genes:
Name: glutaminase
Symbol: GLS
Synonyms: lang: en
text: GAC
lang: en
text: GAM
lang: en
text: GLS1
lang: en
text: K-glutaminase
lang: en
text: KGA
lang: en
text: KIAA0838
lang: en
text: glutaminase C
GeneType: Name: gene with protein product
Rare disease: Spastic ataxia-dysarthria due to glutaminase deficiency (Orphanet code 557056)
Associated genes:
Name: glutaminase
Symbol: GLS
Synonyms: lang: en
text: GAC
lang: en
text: GAM
lang: en
text: GLS1
lang: en
text: K-glutaminase
lang: en
text: KGA
lang: en
text: KIAA0838
lang: en
text: glutaminase C
GeneType: Name: gene with protein product
Rare disease: Oculoskeletodental syndrome (Orphanet code 557003)
Associated genes:
Name: phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha
Symbol: PIK3C2A
Synonyms: lang: en
text: PI3K-C2alpha
lang: en
text: Phosphatidylinositol 4-phosphate 3-kinase C2 domain-containing subunit alpha
GeneType: Name: gene with protein product
Rare disease: Autosomal recessive anterior segment dysgenesis (Orphanet code 519388)
Associated genes:
Name: C3 and PZP like alpha-2-macroglobulin domain containing 8
Symbol: CPAMD8
Synonyms: lang: en
text: K-CAP
lang: en
text: KIAA1283
lang: en
text: VIP
GeneType: Name: gene with protein product
Rare disease: Retinopathy of prematurity (Orphanet code 90050)
Associated genes:
Name: LDL receptor related protein 5
Symbol: LRP5
Synonyms: lang: en
text: BMND1
lang: en
text: EVR4
lang: en
text: HBM
lang: en
text: LR3
lang: en
text: OPS
lang: en
text: OPTA1
lang: en
text: VBCH2
GeneType: Name: gene with protein product
Name: frizzled class receptor 4
Symbol: FZD4
Synonyms: lang: en
text: CD344
GeneType: Name: gene with protein product
Name: norrin cystine knot growth factor NDP
Symbol: NDP
Synonyms: lang: en
text: norrin
GeneType: Name: gene with protein product
Rare disease: Hereditary folate malabsorption (Orphanet code 90045)
Associated genes:
Name: solute carrier family 46 member 1
Symbol: SLC46A1
Synonyms: lang: en
text: HCP1
lang: en
text: HsPCFT
lang: en
text: MGC9564
lang: en
text: PCFT
lang: en
text: hPCFT
lang: en
text: heme carrier protein 1
lang: en
text: proton-coupled folate transporter
GeneType: Name: gene with protein product
Rare disease: Hemoglobin D disease (Orphanet code 90039)
Associated genes:
Name: hemoglobin subunit beta
Symbol: HBB
Synonyms: lang: en
text: CD113t-C
lang: en
text: beta-globin
GeneType: Name: gene with protein product
Rare disease: Familial pseudohyperkalemia (Orphanet code 90044)
Associated genes:
Name: ATP binding cassette subfamily B member 6 (LAN blood group)
Symbol: ABCB6
Synonyms: lang: en
text: ATP-binding cassette half-transporter
lang: en
text: EST45597
lang: en
text: MTABC3
lang: en
text: umat
GeneType: Name: gene with protein product
Rare disease: Primary familial polycythemia (Orphanet code 90042)
Associated genes:
Name: erythropoietin receptor
Symbol: EPOR
Synonyms: lang: en
text: EPO-R
GeneType: Name: gene with protein product
Rare disease: Deafness with labyrinthine aplasia, microtia, and microdontia (Orphanet code 90024)
Associated genes:
Name: fibroblast growth factor 3
Symbol: FGF3
Synonyms: lang: en
text: HBGF-3
lang: en
text: INT-2 proto-oncogene protein
lang: en
text: V-INT2 murine mammary tumor virus integration site oncogene homolog
lang: en
text: murine mammary tumor virus integration site 2, mouse
lang: en
text: oncogene INT2
GeneType: Name: gene with protein product