TaoMedAI/RareMedData huggingface dataset:
Rare disease: Localized dystrophic epidermolysis bullosa, nails only (Orphanet code 158676)
Associated genes:
Name: collagen type VII alpha 1 chain
Symbol: COL7A1
Synonyms: lang: en
text: LC collagen
lang: en
text: collagen VII, alpha-1 polypeptide
GeneType: Name: gene with protein product
Rare disease: Localized dystrophic epidermolysis bullosa, acral form (Orphanet code 158673)
Associated genes:
Name: collagen type VII alpha 1 chain
Symbol: COL7A1
Synonyms: lang: en
text: LC collagen
lang: en
text: collagen VII, alpha-1 polypeptide
GeneType: Name: gene with protein product
Rare disease: Ectodermal dysplasia-skin fragility syndrome (Orphanet code 158668)
Associated genes:
Name: plakophilin 1
Symbol: PKP1
Synonyms: lang: en
text: B6P
lang: en
text: ectodermal dysplasia/skin fragility syndrome
GeneType: Name: gene with protein product
Rare disease: Isolated bone marrow mastocytosis (Orphanet code 158778)
Associated genes:
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
Rare disease: Smoldering systemic mastocytosis (Orphanet code 158775)
Associated genes:
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
Rare disease: Nodular urticaria pigmentosa (Orphanet code 158772)
Associated genes:
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
Rare disease: Gollop-Wolfgang complex (Orphanet code 1986)
Associated genes:
Name: basic helix-loop-helix family member a9
Symbol: BHLHA9
Synonyms: lang: en
text: BHLHF42
lang: en
text: Fingerin
lang: en
text: bHLHa9
GeneType: Name: gene with protein product
Rare disease: Bilateral striopallidodentate calcinosis (Orphanet code 1980)
Associated genes:
Name: junctional adhesion molecule 2
Symbol: JAM2
Synonyms: lang: en
text: CD322
lang: en
text: JAM-2
lang: en
text: JAM-B
lang: en
text: JAMB
lang: en
text: VE-JAM
lang: en
text: junctional adhesion molecule B
lang: en
text: vascular endothelial junction-associated molecule
GeneType: Name: gene with protein product
Name: myogenesis regulating glycosidase (putative)
Symbol: MYORG
Synonyms: lang: en
text: NET37
GeneType: Name: gene with protein product
Name: platelet derived growth factor receptor beta
Symbol: PDGFRB
Synonyms: lang: en
text: CD140b
lang: en
text: JTK12
lang: en
text: PDGFR1
GeneType: Name: gene with protein product
Name: platelet derived growth factor subunit B
Symbol: PDGFB
Synonyms: lang: en
text: SSV
lang: en
text: becaplermin
lang: en
text: oncogene SIS
GeneType: Name: gene with protein product
Name: solute carrier family 20 member 2
Symbol: SLC20A2
Synonyms: lang: en
text: Glvr-2
lang: en
text: PIT2
lang: en
text: PiT-2
lang: en
text: Ram-1
lang: en
text: Sodium-dependent phosphate transporter 2
lang: en
text: gibbon ape leukemia virus receptor 2
GeneType: Name: gene with protein product
Name: xenotropic and polytropic retrovirus receptor 1
Symbol: XPR1
Synonyms: lang: en
text: SLC53A1
lang: en
text: SYG1
lang: en
text: X3
lang: en
text: solute carrier family 53 (phosphate exporter), member 1
GeneType: Name: gene with protein product
Rare disease: Blepharo-cheilo-odontic syndrome (Orphanet code 1997)
Associated genes:
Name: catenin delta 1
Symbol: CTNND1
Synonyms: lang: en
text: KIAA0384
lang: en
text: p120
lang: en
text: p120cas
lang: en
text: p120ctn
GeneType: Name: gene with protein product
Name: cadherin 1
Symbol: CDH1
Synonyms: lang: en
text: CD324
lang: en
text: E-Cadherin
lang: en
text: uvomorulin
GeneType: Name: gene with protein product
Rare disease: Familial partial lipodystrophy, Dunnigan type (Orphanet code 2348)
Associated genes:
Name: lamin A/C
Symbol: LMNA
Synonyms: lang: en
text: HGPS
lang: en
text: MADA
lang: en
text: mandibuloacral dysplasia type A
lang: en
text: progerin
GeneType: Name: gene with protein product
Rare disease: Müllerian aplasia and hyperandrogenism (Orphanet code 247768)
Associated genes:
Name: Wnt family member 4
Symbol: WNT4
Synonyms: lang: en
text: WNT-4
GeneType: Name: gene with protein product
Rare disease: Schilbach-Rott syndrome (Orphanet code 2353)
Associated genes:
Name: patched 1
Symbol: PTCH1
Synonyms: lang: en
text: BCNS
GeneType: Name: gene with protein product
Rare disease: FTH1-related iron overload (Orphanet code 247790)
Associated genes:
Name: ferritin heavy chain 1
Symbol: FTH1
Synonyms: lang: en
text: FHC
lang: en
text: FTH
lang: en
text: H-ferritin
lang: en
text: PIG15
lang: en
text: PLIF
lang: en
text: apoferritin
lang: en
text: placenta immunoregulatory factor
lang: en
text: proliferation-inducing protein 15
GeneType: Name: gene with protein product
Rare disease: MUTYH-related attenuated familial adenomatous polyposis (Orphanet code 247798)
Associated genes:
Name: mutY DNA glycosylase
Symbol: MUTYH
Synonyms: lang: en
text: MYH
GeneType: Name: gene with protein product
Rare disease: Juvenile cataract-microcornea-renal glucosuria syndrome (Orphanet code 247794)
Associated genes:
Name: solute carrier family 16 member 12
Symbol: SLC16A12
Synonyms: lang: en
text: CRT2
lang: en
text: MCT12
lang: en
text: creatine transporter 2
lang: en
text: monocarboxylic acid transporter 12
GeneType: Name: gene with protein product
Rare disease: Autosomal recessive ataxia due to PEX10 deficiency (Orphanet code 247815)
Associated genes:
Name: peroxisomal biogenesis factor 10
Symbol: PEX10
Synonyms: lang: en
text: RNF69
GeneType: Name: gene with protein product
Rare disease: APC-related attenuated familial adenomatous polyposis (Orphanet code 247806)
Associated genes:
Name: APC regulator of WNT signaling pathway
Symbol: APC
Synonyms: lang: en
text: DP2
lang: en
text: DP2.5
lang: en
text: DP3
lang: en
text: PPP1R46
lang: en
text: protein phosphatase 1, regulatory subunit 46
GeneType: Name: gene with protein product
Rare disease: Lacrimoauriculodentodigital syndrome (Orphanet code 2363)
Associated genes:
Name: fibroblast growth factor 10
Symbol: FGF10
GeneType: Name: gene with protein product
Name: fibroblast growth factor receptor 3
Symbol: FGFR3
Synonyms: lang: en
text: CD333
lang: en
text: CEK2
lang: en
text: JTK4
GeneType: Name: gene with protein product
Name: fibroblast growth factor receptor 2
Symbol: FGFR2
Synonyms: lang: en
text: CD332
lang: en
text: CEK3
lang: en
text: Crouzon syndrome
lang: en
text: ECT1
lang: en
text: K-SAM
lang: en
text: Pfeiffer syndrome
lang: en
text: TK14
lang: en
text: TK25
GeneType: Name: gene with protein product
Rare disease: Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations (Orphanet code 247691)
Associated genes:
Name: three prime repair exonuclease 1
Symbol: TREX1
Synonyms: lang: en
text: DRN3
GeneType: Name: gene with protein product
Rare disease: Keratosis follicularis spinulosa decalvans (Orphanet code 2340)
Associated genes:
Name: membrane bound transcription factor peptidase, site 2
Symbol: MBTPS2
Synonyms: lang: en
text: S2P
lang: en
text: site-2 protease
lang: en
text: sterol regulatory element-binding proteins intramembrane protease
GeneType: Name: gene with protein product
Name: spermidine/spermine N1-acetyltransferase 1
Symbol: SAT1
Synonyms: lang: en
text: SSAT
lang: en
text: diamine N-acetyltransferase 1
GeneType: Name: gene with protein product
Name: LDL receptor related protein 1
Symbol: LRP1
Synonyms: lang: en
text: APOER
lang: en
text: CD91
lang: en
text: LRP
lang: en
text: LRP1A
lang: en
text: transforming growth factor-alpha receptor type V
GeneType: Name: gene with protein product
Rare disease: Odontohypophosphatasia (Orphanet code 247685)
Associated genes:
Name: alkaline phosphatase, biomineralization associated
Symbol: ALPL
Synonyms: lang: en
text: TNALP
lang: en
text: TNAP
lang: en
text: TNSALP
lang: en
text: tissue non-specific alkaline phosphatase
GeneType: Name: gene with protein product
Rare disease: Haim-Munk syndrome (Orphanet code 2342)
Associated genes:
Name: cathepsin C
Symbol: CTSC
Synonyms: lang: en
text: DPP1
lang: en
text: dipeptidyl peptidase 1
GeneType: Name: gene with protein product
Rare disease: Multiple endocrine neoplasia type 2B (Orphanet code 247709)
Associated genes:
Name: ret proto-oncogene
Symbol: RET
Synonyms: lang: en
text: CDHF12
lang: en
text: CDHR16
lang: en
text: PTC
lang: en
text: RET receptor tyrosine kinase
lang: en
text: RET51
lang: en
text: cadherin-related family member 16
lang: en
text: rearranged during transfection
GeneType: Name: gene with protein product
Rare disease: Multiple endocrine neoplasia type 2A (Orphanet code 247698)
Associated genes:
Name: ret proto-oncogene
Symbol: RET
Synonyms: lang: en
text: CDHF12
lang: en
text: CDHR16
lang: en
text: PTC
lang: en
text: RET receptor tyrosine kinase
lang: en
text: RET51
lang: en
text: cadherin-related family member 16
lang: en
text: rearranged during transfection
GeneType: Name: gene with protein product
Rare disease: Kniest dysplasia (Orphanet code 485)
Associated genes:
Name: collagen type II alpha 1 chain
Symbol: COL2A1
Synonyms: lang: en
text: STL1
GeneType: Name: gene with protein product
Rare disease: Citrullinemia type II (Orphanet code 247585)
Associated genes:
Name: solute carrier family 25 member 13
Symbol: SLC25A13
Synonyms: lang: en
text: ARALAR2
lang: en
text: CITRIN
lang: en
text: Calcium-binding mitochondrial carrier protein Aralar2
lang: en
text: citrullinemia type II
lang: en
text: mitochondrial aspartate glutamate carrier 2
GeneType: Name: gene with protein product
Rare disease: Neonatal intrahepatic cholestasis due to citrin deficiency (Orphanet code 247598)
Associated genes:
Name: solute carrier family 25 member 13
Symbol: SLC25A13
Synonyms: lang: en
text: ARALAR2
lang: en
text: CITRIN
lang: en
text: Calcium-binding mitochondrial carrier protein Aralar2
lang: en
text: citrullinemia type II
lang: en
text: mitochondrial aspartate glutamate carrier 2
GeneType: Name: gene with protein product
Rare disease: KBG syndrome (Orphanet code 2332)
Associated genes:
Name: ankyrin repeat domain containing 11
Symbol: ANKRD11
Synonyms: lang: en
text: ANCO-1
lang: en
text: ANCO1
lang: en
text: LZ16
lang: en
text: T13
lang: en
text: ankyrin repeats containing cofactor 1
GeneType: Name: gene with protein product
Rare disease: Juvenile primary lateral sclerosis (Orphanet code 247604)
Associated genes:
Name: alsin Rho guanine nucleotide exchange factor ALS2
Symbol: ALS2
Synonyms: lang: en
text: alsin
GeneType: Name: gene with protein product
Name: ER lipid raft associated 2
Symbol: ERLIN2
Synonyms: lang: en
text: Erlin-2
lang: en
text: NET32
GeneType: Name: gene with protein product
Rare disease: Perinatal lethal hypophosphatasia (Orphanet code 247623)
Associated genes:
Name: alkaline phosphatase, biomineralization associated
Symbol: ALPL
Synonyms: lang: en
text: TNALP
lang: en
text: TNAP
lang: en
text: TNSALP
lang: en
text: tissue non-specific alkaline phosphatase
GeneType: Name: gene with protein product
Rare disease: Prenatal benign hypophosphatasia (Orphanet code 247638)
Associated genes:
Name: alkaline phosphatase, biomineralization associated
Symbol: ALPL
Synonyms: lang: en
text: TNALP
lang: en
text: TNAP
lang: en
text: TNSALP
lang: en
text: tissue non-specific alkaline phosphatase
GeneType: Name: gene with protein product
Rare disease: Diffuse palmoplantar keratoderma, Bothnian type (Orphanet code 2337)
Associated genes:
Name: aquaporin 5
Symbol: AQP5
GeneType: Name: gene with protein product
Rare disease: Infantile hypophosphatasia (Orphanet code 247651)
Associated genes:
Name: alkaline phosphatase, biomineralization associated
Symbol: ALPL
Synonyms: lang: en
text: TNALP
lang: en
text: TNAP
lang: en
text: TNSALP
lang: en
text: tissue non-specific alkaline phosphatase
GeneType: Name: gene with protein product
Rare disease: Childhood-onset hypophosphatasia (Orphanet code 247667)
Associated genes:
Name: alkaline phosphatase, biomineralization associated
Symbol: ALPL
Synonyms: lang: en
text: TNALP
lang: en
text: TNAP
lang: en
text: TNSALP
lang: en
text: tissue non-specific alkaline phosphatase
GeneType: Name: gene with protein product
Rare disease: Adult hypophosphatasia (Orphanet code 247676)
Associated genes:
Name: alkaline phosphatase, biomineralization associated
Symbol: ALPL
Synonyms: lang: en
text: TNALP
lang: en
text: TNAP
lang: en
text: TNSALP
lang: en
text: tissue non-specific alkaline phosphatase
GeneType: Name: gene with protein product
Rare disease: Keratoderma hereditarium mutilans (Orphanet code 494)
Associated genes:
Name: gap junction protein beta 2
Symbol: GJB2
Synonyms: lang: en
text: CX26
lang: en
text: NSRD1
lang: en
text: connexin 26
GeneType: Name: gene with protein product
Rare disease: Kabuki syndrome (Orphanet code 2322)
Associated genes:
Name: lysine methyltransferase 2D
Symbol: KMT2D
Synonyms: lang: en
text: ALL1-related
lang: en
text: ALR
lang: en
text: CAGL114
lang: en
text: MLL4
lang: en
text: histone-lysine N-methyltransferase 2D
GeneType: Name: gene with protein product
Name: lysine demethylase 6A
Symbol: KDM6A
GeneType: Name: gene with protein product
Rare disease: Autosomal recessive secondary polycythemia not associated with VHL gene (Orphanet code 247378)
Associated genes:
Name: bisphosphoglycerate mutase
Symbol: BPGM
GeneType: Name: gene with protein product
Rare disease: Autosomal dominant secondary polycythemia (Orphanet code 247511)
Associated genes:
Name: erythropoietin
Symbol: EPO
Synonyms: lang: en
text: EP
GeneType: Name: gene with protein product
Name: egl-9 family hypoxia inducible factor 1
Symbol: EGLN1
Synonyms: lang: en
text: HIF prolyl hydroxylase 2
lang: en
text: HIFPH2
lang: en
text: PHD2
lang: en
text: SM-20
lang: en
text: ZMYND6
GeneType: Name: gene with protein product
Name: endothelial PAS domain protein 1
Symbol: EPAS1
Synonyms: lang: en
text: HIF-1 alpha-like factor
lang: en
text: HIF2A
lang: en
text: HLF
lang: en
text: MOP2
lang: en
text: PASD2
lang: en
text: bHLHe73
GeneType: Name: gene with protein product
Name: hemoglobin subunit alpha 1
Symbol: HBA1
Synonyms: lang: en
text: HBA-T3
GeneType: Name: gene with protein product
Name: hemoglobin subunit alpha 2
Symbol: HBA2
Synonyms: lang: en
text: HBA-T2
GeneType: Name: gene with protein product
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: Sanjad-Sakati syndrome (Orphanet code 2323)
Associated genes:
Name: tubulin folding cofactor E
Symbol: TBCE
Synonyms: lang: en
text: KCS1
lang: en
text: pac2
GeneType: Name: gene with protein product
Rare disease: Primary ciliary dyskinesia-retinitis pigmentosa syndrome (Orphanet code 247522)
Associated genes:
Name: retinitis pigmentosa GTPase regulator
Symbol: RPGR
Synonyms: lang: en
text: CORDX1
GeneType: Name: gene with protein product
Rare disease: Acute neonatal citrullinemia type I (Orphanet code 247546)
Associated genes:
Name: argininosuccinate synthase 1
Symbol: ASS1
Synonyms: lang: en
text: CTLN1
GeneType: Name: gene with protein product
Rare disease: Late-onset citrullinemia type I (Orphanet code 247573)
Associated genes:
Name: argininosuccinate synthase 1
Symbol: ASS1
Synonyms: lang: en
text: CTLN1
GeneType: Name: gene with protein product
Rare disease: Laryngo-onycho-cutaneous syndrome (Orphanet code 2407)
Associated genes:
Name: laminin subunit alpha 3
Symbol: LAMA3
Synonyms: lang: en
text: BM600-150kDa
lang: en
text: epiligrin
lang: en
text: kalinin-165kDa
lang: en
text: nicein-150kDa
GeneType: Name: gene with protein product
Rare disease: Familial hypodysfibrinogenemia (Orphanet code 248408)
Associated genes:
Name: fibrinogen alpha chain
Symbol: FGA
GeneType: Name: gene with protein product
Name: fibrinogen beta chain
Symbol: FGB
GeneType: Name: gene with protein product
Name: fibrinogen gamma chain
Symbol: FGG
GeneType: Name: gene with protein product
Rare disease: Encephalocraniocutaneous lipomatosis (Orphanet code 2396)
Associated genes:
Name: fibroblast growth factor receptor 1
Symbol: FGFR1
Synonyms: lang: en
text: BFGFR
lang: en
text: CD331
lang: en
text: CEK
lang: en
text: FLG
lang: en
text: H2
lang: en
text: H3
lang: en
text: H4
lang: en
text: H5
lang: en
text: N-SAM
lang: en
text: Pfeiffer syndrome
GeneType: Name: gene with protein product
Name: KRAS proto-oncogene, GTPase
Symbol: KRAS
Synonyms: lang: en
text: K-Ras4B
lang: en
text: KRAS1
GeneType: Name: gene with protein product
Rare disease: Isolated delta-storage pool disease (Orphanet code 248340)
Associated genes:
Name: Fli-1 proto-oncogene, ETS transcription factor
Symbol: FLI1
Synonyms: lang: en
text: EWSR2
lang: en
text: FLI-1
lang: en
text: SIC-1
GeneType: Name: gene with protein product
Rare disease: Choreoacanthocytosis (Orphanet code 2388)
Associated genes:
Name: vacuolar protein sorting 13 homolog A
Symbol: VPS13A
Synonyms: lang: en
text: BLTP5A
lang: en
text: KIAA0986
lang: en
text: bridge-like lipid transfer protein family member 5A
lang: en
text: chorein
GeneType: Name: gene with protein product
Rare disease: Juvenile Huntington disease (Orphanet code 248111)
Associated genes:
Name: huntingtin
Symbol: HTT
Synonyms: lang: en
text: IT15
GeneType: Name: gene with protein product
Rare disease: Leukonychia totalis (Orphanet code 2387)
Associated genes:
Name: phospholipase C delta 1
Symbol: PLCD1
Synonyms: lang: en
text: 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase delta-1
lang: en
text: Phospholipase C d1
GeneType: Name: gene with protein product
Rare disease: Early-onset parkinsonism-intellectual disability syndrome (Orphanet code 2379)
Associated genes:
Name: RAB39B, member RAS oncogene family
Symbol: RAB39B
GeneType: Name: gene with protein product
Rare disease: Occult macular dystrophy (Orphanet code 247834)
Associated genes:
Name: RP1 like 1
Symbol: RP1L1
Synonyms: lang: en
text: DCDC4B
lang: en
text: doublecortin domain containing 4B
GeneType: Name: gene with protein product
Rare disease: Ectodermal dysplasia-pili torti-cutaneous syndactyly syndrome (Orphanet code 247820)
Associated genes:
Name: nectin cell adhesion molecule 4
Symbol: NECTIN4
Synonyms: lang: en
text: LNIR
lang: en
text: PRR4
lang: en
text: nectin-4
GeneType: Name: gene with protein product
Rare disease: Laurin-Sandrow syndrome (Orphanet code 2378)
Associated genes:
Name: limb development membrane protein 1
Symbol: LMBR1
Synonyms: lang: en
text: ACHP
lang: en
text: FLJ11665
lang: en
text: ZRS
GeneType: Name: gene with protein product
Rare disease: NLRP12-associated hereditary periodic fever syndrome (Orphanet code 247868)
Associated genes:
Name: NLR family pyrin domain containing 12
Symbol: NLRP12
Synonyms: lang: en
text: CLR19.3
lang: en
text: Monarch1
lang: en
text: PAN6
lang: en
text: PYPAF7
lang: en
text: RNO2
lang: en
text: nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 12
GeneType: Name: gene with protein product
Rare disease: Mucocutaneous venous malformations (Orphanet code 2451)
Associated genes:
Name: TEK receptor tyrosine kinase
Symbol: TEK
Synonyms: lang: en
text: CD202b
lang: en
text: TIE-2
lang: en
text: TIE2
lang: en
text: VMCM1
lang: en
text: angiopoietin-1 receptor
GeneType: Name: gene with protein product
Rare disease: Dominant hypophosphatemia with nephrolithiasis or osteoporosis (Orphanet code 244305)
Associated genes:
Name: solute carrier family 34 member 1
Symbol: SLC34A1
Synonyms: lang: en
text: NAPI-3
lang: en
text: NPTIIa
lang: en
text: Na+-phosphate cotransporter type II
lang: en
text: SLC11
lang: en
text: sodium/phosphate co-transporter
lang: en
text: solute carrier family 17 (sodium phosphate), member 2
GeneType: Name: gene with protein product
Name: NHERF family PDZ scaffold protein 1
Symbol: NHERF1
Synonyms: lang: en
text: EBP50
lang: en
text: NHE-RF
lang: en
text: NHERF
lang: en
text: NHERF-1
lang: en
text: Na(+)/H(+) exchange regulatory cofactor 1
lang: en
text: ezrin-radixin-moesin-binding phosphoprotein 50
GeneType: Name: gene with protein product
Rare disease: Biliary atresia with splenic malformation syndrome (Orphanet code 244283)
Associated genes:
Name: cryptic, EGF-CFC family member 1
Symbol: CFC1
Synonyms: lang: en
text: CRYPTIC
GeneType: Name: gene with protein product
Rare disease: Isolated split hand-split foot malformation (Orphanet code 2440)
Associated genes:
Name: distal-less homeobox 6
Symbol: DLX6
GeneType: Name: gene with protein product
Name: epidermal growth factor receptor pathway substrate 15 like 1
Symbol: EPS15L1
Synonyms: lang: en
text: eps15R
GeneType: Name: gene with protein product
Name: tumor protein p63
Symbol: TP63
Synonyms: lang: en
text: EEC3
lang: en
text: KET
lang: en
text: NBP
lang: en
text: OFC8
lang: en
text: SHFM4
lang: en
text: p40
lang: en
text: p51
lang: en
text: p53CP
lang: en
text: p63
lang: en
text: p73H
lang: en
text: p73L
GeneType: Name: gene with protein product
Name: SEM1 26S proteasome subunit
Symbol: SEM1
Synonyms: lang: en
text: DSS1
lang: en
text: ECD
lang: en
text: FLJ42280
lang: en
text: PSMD15
lang: en
text: SHSF1
lang: en
text: Shfdg1
lang: en
text: deleted in split-hand/foot 1
GeneType: Name: gene with protein product
Name: Wnt family member 10B
Symbol: WNT10B
Synonyms: lang: en
text: SHFM6
lang: en
text: WNT-12
GeneType: Name: gene with protein product
Name: distal-less homeobox 5
Symbol: DLX5
GeneType: Name: gene with protein product
Name: beta-transducin repeat containing E3 ubiquitin protein ligase
Symbol: BTRC
Synonyms: lang: en
text: FBXW1A
lang: en
text: Fwd1
lang: en
text: bTrCP
lang: en
text: bTrCP1
lang: en
text: beta-TrCP1
lang: en
text: betaTrCP
GeneType: Name: gene with protein product
Name: F-box and WD repeat domain containing 4
Symbol: FBXW4
Synonyms: lang: en
text: Fbw4
lang: en
text: dactylin
GeneType: Name: gene with protein product
Rare disease: RFT1-CDG (Orphanet code 244310)
Associated genes:
Name: RFT1 homolog
Symbol: RFT1
Synonyms: lang: en
text: CDG1N
lang: en
text: congenital disorder of glycosylation 1N
GeneType: Name: gene with protein product
Rare disease: HELLP syndrome (Orphanet code 244242)
Associated genes:
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 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
Name: HELLP associated long non-coding RNA
Symbol: HELLPAR
Synonyms: lang: en
text: LINC-HELLP
lang: en
text: Long intergenic non-protein coding RNA associated with HELLP syndrome
lang: en
text: long intergenic non-protein coding RNA associated with HELLP syndrome
GeneType: Name: Non-coding RNA
Rare disease: Ollier disease (Orphanet code 296)
Associated genes:
Name: parathyroid hormone 1 receptor
Symbol: PTH1R
GeneType: Name: gene with protein product
Name: isocitrate dehydrogenase (NADP(+)) 2
Symbol: IDH2
Synonyms: lang: en
text: IDH-2
GeneType: Name: gene with protein product
Name: isocitrate dehydrogenase (NADP(+)) 1
Symbol: IDH1
GeneType: Name: gene with protein product
Rare disease: De novo thrombotic microangiopathy after kidney transplantation (Orphanet code 244275)
Associated genes:
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
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