TaoMedAI/RareMedData huggingface dataset:
Rare disease: Large congenital melanocytic nevus (Orphanet code 626)
Associated genes:
Name: zinc finger E-box binding homeobox 2
Symbol: ZEB2
Synonyms: lang: en
text: KIAA0569
lang: en
text: SIP-1
lang: en
text: SIP1
lang: en
text: SMAD interacting protein 1
GeneType: Name: gene with protein product
Name: B-Raf proto-oncogene, serine/threonine kinase
Symbol: BRAF
Synonyms: lang: en
text: BRAF-1
lang: en
text: BRAF1
GeneType: Name: gene with protein product
Name: Raf-1 proto-oncogene, serine/threonine kinase
Symbol: RAF1
Synonyms: lang: en
text: C-Raf proto-oncogene, serine/threonine kinase
lang: en
text: CRAF
lang: en
text: Raf-1
lang: en
text: c-Raf
GeneType: Name: gene with protein product
Name: ALK receptor tyrosine kinase
Symbol: ALK
Synonyms: lang: en
text: ALK1
lang: en
text: CD246
GeneType: Name: gene with protein product
Name: NRAS proto-oncogene, GTPase
Symbol: NRAS
Synonyms: lang: en
text: N-ras
GeneType: Name: gene with protein product
Name: SRY-box transcription factor 5
Symbol: SOX5
Synonyms: lang: en
text: L-SOX5
lang: en
text: MGC35153
GeneType: Name: gene with protein product
Name: B-Raf proto-oncogene, serine/threonine kinase
Symbol: BRAF
Synonyms: lang: en
text: BRAF-1
lang: en
text: BRAF1
GeneType: Name: gene with protein product
Rare disease: Refsum disease (Orphanet code 773)
Associated genes:
Name: phytanoyl-CoA 2-hydroxylase
Symbol: PHYH
Synonyms: lang: en
text: PAHX
lang: en
text: PHYH1
lang: en
text: RD
lang: en
text: Refsum disease
lang: en
text: phytanoyl-CoA dioxygenase
GeneType: Name: gene with protein product
Name: peroxisomal biogenesis factor 7
Symbol: PEX7
Synonyms: lang: en
text: PTS2R
lang: en
text: RD
lang: en
text: Refsum disease
GeneType: Name: gene with protein product
Rare disease: T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency (Orphanet code 169154)
Associated genes:
Name: interleukin 7 receptor
Symbol: IL7R
Synonyms: lang: en
text: CD127
lang: en
text: CDw127
lang: en
text: IL-7Ralpha
lang: en
text: IL7RA
lang: en
text: IL7Ralpha
lang: en
text: Interleukin-7 receptor subunit alpha
lang: en
text: lnc-IL7R
lang: en
text: sIL-7R
lang: en
text: soluble interleukin-7 receptor
GeneType: Name: gene with protein product
Rare disease: Immunodeficiency due to a late component of complement deficiency (Orphanet code 169150)
Associated genes:
Name: complement C5
Symbol: C5
Synonyms: lang: en
text: C5a
lang: en
text: C5a anaphylatoxin
lang: en
text: C5b
lang: en
text: CPAMD4
lang: en
text: prepro-C5
GeneType: Name: gene with protein product
Name: complement C6
Symbol: C6
GeneType: Name: gene with protein product
Name: complement C7
Symbol: C7
GeneType: Name: gene with protein product
Name: complement C8 alpha chain
Symbol: C8A
GeneType: Name: gene with protein product
Name: complement C8 beta chain
Symbol: C8B
GeneType: Name: gene with protein product
Name: complement C8 gamma chain
Symbol: C8G
GeneType: Name: gene with protein product
Name: complement C9
Symbol: C9
GeneType: Name: gene with protein product
Rare disease: T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta (Orphanet code 169160)
Associated genes:
Name: CD3 delta subunit of T-cell receptor complex
Symbol: CD3D
Synonyms: lang: en
text: CD3-DELTA
lang: en
text: CD3DELTA
lang: en
text: T-cell surface glycoprotein CD3 delta chain
GeneType: Name: gene with protein product
Name: CD3 epsilon subunit of T-cell receptor complex
Symbol: CD3E
Synonyms: lang: en
text: CD3-epsilon
lang: en
text: CD3epsilon
lang: en
text: T-cell surface glycoprotein CD3 epsilon chain
GeneType: Name: gene with protein product
Name: CD247 molecule
Symbol: CD247
Synonyms: lang: en
text: CD3-ZETA
lang: en
text: CD3H
lang: en
text: CD3Q
lang: en
text: CD3ZETA
lang: en
text: T-cell surface glycoprotein CD3 zeta chain
lang: en
text: TCRZ
GeneType: Name: gene with protein product
Rare disease: T-B+ severe combined immunodeficiency due to CD45 deficiency (Orphanet code 169157)
Associated genes:
Name: protein tyrosine phosphatase receptor type C
Symbol: PTPRC
Synonyms: lang: en
text: B220
lang: en
text: CD45R
lang: en
text: GP180
lang: en
text: LCA
lang: en
text: LY5
lang: en
text: T200
lang: en
text: glycoprotein 180
lang: en
text: leukocyte-common antigen
GeneType: Name: gene with protein product
Rare disease: Progressive epilepsy-intellectual disability syndrome, Finnish type (Orphanet code 1947)
Associated genes:
Name: CLN8 transmembrane ER and ERGIC protein
Symbol: CLN8
Synonyms: lang: en
text: FLJ39417
lang: en
text: TLCD6
GeneType: Name: gene with protein product
Rare disease: Immunodeficiency due to a classical component pathway complement deficiency (Orphanet code 169147)
Associated genes:
Name: complement C2
Symbol: C2
GeneType: Name: gene with protein product
Name: complement C4A (Chido/Rodgers blood group)
Symbol: C4A
Synonyms: lang: en
text: C4
lang: en
text: C4A2
lang: en
text: C4A3
lang: en
text: C4A4
lang: en
text: C4A6
lang: en
text: C4B
lang: en
text: C4S
lang: en
text: CO4
lang: en
text: CPAMD2
lang: en
text: RG
GeneType: Name: gene with protein product
Name: complement C4B (Chido/Rodgers blood group)
Symbol: C4B
Synonyms: lang: en
text: C4B1
lang: en
text: C4B3
lang: en
text: C4F
lang: en
text: CH
lang: en
text: CO4
lang: en
text: CPAMD3
GeneType: Name: gene with protein product
Name: complement C1q A chain
Symbol: C1QA
GeneType: Name: gene with protein product
Name: complement C1q B chain
Symbol: C1QB
GeneType: Name: gene with protein product
Name: complement C1q C chain
Symbol: C1QC
GeneType: Name: gene with protein product
Name: complement C1s
Symbol: C1S
GeneType: Name: gene with protein product
Name: complement C1r
Symbol: C1R
GeneType: Name: gene with protein product
Rare disease: Recurrent infections due to specific granule deficiency (Orphanet code 169142)
Associated genes:
Name: CCAAT enhancer binding protein epsilon
Symbol: CEBPE
Synonyms: lang: en
text: CRP1
GeneType: Name: gene with protein product
Name: SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 2
Symbol: SMARCD2
Synonyms: lang: en
text: BAF60B
lang: en
text: CRACD2
lang: en
text: PRO2451
lang: en
text: Rsc6p
lang: en
text: SWI/SNF complex 60 kDa subunit B
lang: en
text: Swp73-like protein
lang: en
text: chromatin remodeling complex BAF60B subunit
lang: en
text: mammalian chromatin remodeling complex BRG1-associated factor 60B
GeneType: Name: gene with protein product
Rare disease: X-linked centronuclear myopathy (Orphanet code 596)
Associated genes:
Name: myotubularin 1
Symbol: MTM1
GeneType: Name: gene with protein product
Rare disease: Bethlem muscular dystrophy (Orphanet code 610)
Associated genes:
Name: collagen type VI alpha 1 chain
Symbol: COL6A1
GeneType: Name: gene with protein product
Name: collagen type VI alpha 2 chain
Symbol: COL6A2
GeneType: Name: gene with protein product
Name: collagen type VI alpha 3 chain
Symbol: COL6A3
GeneType: Name: gene with protein product
Name: collagen type XII alpha 1 chain
Symbol: COL12A1
Synonyms: lang: en
text: collagen type XII proteoglycan
GeneType: Name: gene with protein product
Rare disease: Autosomal recessive centronuclear myopathy (Orphanet code 169186)
Associated genes:
Name: titin
Symbol: TTN
Synonyms: lang: en
text: CMH9
lang: en
text: CMPD4
lang: en
text: FLJ32040
lang: en
text: LGMD2J
lang: en
text: MYLK5
lang: en
text: TMD
GeneType: Name: gene with protein product
Name: striated muscle enriched protein kinase
Symbol: SPEG
Synonyms: lang: en
text: BPEG
lang: en
text: KIAA1297
lang: en
text: MGC12676
lang: en
text: MYLK6
lang: en
text: SPEGalpha
lang: en
text: SPEGbeta
lang: en
text: striated muscle preferentially expressed protein kinase
GeneType: Name: gene with protein product
Name: ryanodine receptor 1
Symbol: RYR1
Synonyms: lang: en
text: PPP1R137
lang: en
text: RYR
lang: en
text: protein phosphatase 1, regulatory subunit 137
GeneType: Name: gene with protein product
Name: bridging integrator 1
Symbol: BIN1
Synonyms: lang: en
text: AMPH2
lang: en
text: Myc box-dependent-interacting protein 1
lang: en
text: SH3P9
lang: en
text: amphiphysin 2
lang: en
text: amphiphysin II
GeneType: Name: gene with protein product
Rare disease: Incontinentia pigmenti (Orphanet code 464)
Associated genes:
Name: inhibitor of nuclear factor kappa B kinase regulatory subunit gamma
Symbol: IKBKG
Synonyms: lang: en
text: 14.7K (adenovirus E3 protein) interacting protein 3
lang: en
text: FIP-3
lang: en
text: FIP3
lang: en
text: Fip3p
lang: en
text: I-kappa-B kinase subunit gamma
lang: en
text: IKK-gamma
lang: en
text: IKKAP1
lang: en
text: IKKG
lang: en
text: IkB kinase subunit gamma
lang: en
text: IkB kinase-associated protein 1
lang: en
text: NEMO
lang: en
text: NF-kappa-B essential modulator
lang: en
text: ZC2HC9
GeneType: Name: gene with protein product
Rare disease: Autosomal dominant centronuclear myopathy (Orphanet code 169189)
Associated genes:
Name: ryanodine receptor 1
Symbol: RYR1
Synonyms: lang: en
text: PPP1R137
lang: en
text: RYR
lang: en
text: protein phosphatase 1, regulatory subunit 137
GeneType: Name: gene with protein product
Name: dynamin 2
Symbol: DNM2
Synonyms: lang: en
text: CMT2M
lang: en
text: CMTDI1
lang: en
text: CMTDIB
lang: en
text: DI-CMTB
lang: en
text: DYN2
lang: en
text: DYNII
lang: en
text: cytoskeletal protein
lang: en
text: dynamin II
GeneType: Name: gene with protein product
Name: myogenic factor 6
Symbol: MYF6
Synonyms: lang: en
text: MRF4
lang: en
text: bHLHc4
lang: en
text: herculin
lang: en
text: muscle-specific regulatory factor 4
GeneType: Name: gene with protein product
Name: bridging integrator 1
Symbol: BIN1
Synonyms: lang: en
text: AMPH2
lang: en
text: Myc box-dependent-interacting protein 1
lang: en
text: SH3P9
lang: en
text: amphiphysin 2
lang: en
text: amphiphysin II
GeneType: Name: gene with protein product
Name: myotubularin related protein 14
Symbol: MTMR14
Synonyms: lang: en
text: FLJ22405
lang: en
text: FLJ90311
lang: en
text: egg-derived tyrosine phosphatase homolog (Drosophila)
lang: en
text: hEDTP
lang: en
text: hJumpy
GeneType: Name: gene with protein product
Rare disease: Neonatal adrenoleukodystrophy (Orphanet code 44)
Associated genes:
Name: peroxisomal biogenesis factor 2
Symbol: PEX2
Synonyms: lang: en
text: PAF-1
lang: en
text: PMP35
lang: en
text: RNF72
lang: en
text: ZWS3
lang: en
text: Zellweger syndrome
lang: en
text: peroxin 2
GeneType: Name: gene with protein product
Name: peroxisomal biogenesis factor 1
Symbol: PEX1
GeneType: Name: gene with protein product
Name: peroxisomal biogenesis factor 10
Symbol: PEX10
Synonyms: lang: en
text: RNF69
GeneType: Name: gene with protein product
Name: peroxisomal biogenesis factor 12
Symbol: PEX12
GeneType: Name: gene with protein product
Name: peroxisomal biogenesis factor 13
Symbol: PEX13
GeneType: Name: gene with protein product
Name: peroxisomal biogenesis factor 14
Symbol: PEX14
GeneType: Name: gene with protein product
Name: peroxisomal biogenesis factor 16
Symbol: PEX16
GeneType: Name: gene with protein product
Name: peroxisomal biogenesis factor 19
Symbol: PEX19
Synonyms: lang: en
text: D1S2223E
lang: en
text: HK33
lang: en
text: PMP1
lang: en
text: PMPI
lang: en
text: PXMP1
lang: en
text: housekeeping gene, 33kD
GeneType: Name: gene with protein product
Name: peroxisomal biogenesis factor 26
Symbol: PEX26
Synonyms: lang: en
text: FLJ20695
GeneType: Name: gene with protein product
Name: peroxisomal biogenesis factor 3
Symbol: PEX3
GeneType: Name: gene with protein product
Name: peroxisomal biogenesis factor 5
Symbol: PEX5
Synonyms: lang: en
text: PTS1R
lang: en
text: peroxisomal import receptor 5
lang: en
text: peroxisomal targeting signal 1 receptor
GeneType: Name: gene with protein product
Name: peroxisomal biogenesis factor 6
Symbol: PEX6
Synonyms: lang: en
text: PAF-2
lang: en
text: PXAAA1
GeneType: Name: gene with protein product
Name: peroxisomal biogenesis factor 11 beta
Symbol: PEX11B
Synonyms: lang: en
text: PEX11beta
lang: en
text: Peroxisomal membrane protein 11B
GeneType: Name: gene with protein product
Rare disease: Alkaptonuria (Orphanet code 56)
Associated genes:
Name: homogentisate 1,2-dioxygenase
Symbol: HGD
Synonyms: lang: en
text: HGO
lang: en
text: homogentisate oxidase
GeneType: Name: gene with protein product
Rare disease: Acromegaly (Orphanet code 963)
Associated genes:
Name: aryl hydrocarbon receptor interacting protein
Symbol: AIP
Synonyms: lang: en
text: ARA9
lang: en
text: Ah receptor activated 9
lang: en
text: FK506-binding protein 37
lang: en
text: FKBP prolyl isomerase 16
lang: en
text: FKBP16
lang: en
text: FKBP37
lang: en
text: X-associated protein-2
lang: en
text: XAP2
lang: en
text: aryl hydrocarbon receptor-associated protein 9
lang: en
text: hepatitis B virus X-associated cellular protein 2
GeneType: Name: gene with protein product
Name: G protein-coupled receptor 101
Symbol: GPR101
GeneType: Name: gene with protein product
Rare disease: Blue rubber bleb nevus (Orphanet code 1059)
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: Succinic semialdehyde dehydrogenase deficiency (Orphanet code 22)
Associated genes:
Name: aldehyde dehydrogenase 5 family member A1
Symbol: ALDH5A1
Synonyms: lang: en
text: SSADH
lang: en
text: SSDH
lang: en
text: succinate-semialdehyde dehydrogenase
GeneType: Name: gene with protein product
Rare disease: Mevalonic aciduria (Orphanet code 29)
Associated genes:
Name: mevalonate kinase
Symbol: MVK
Synonyms: lang: en
text: LH receptor mRNA-binding protein
lang: en
text: LRBP
lang: en
text: MK
lang: en
text: mevalonic aciduria
GeneType: Name: gene with protein product
Rare disease: Nager syndrome (Orphanet code 245)
Associated genes:
Name: splicing factor 3b subunit 4
Symbol: SF3B4
Synonyms: lang: en
text: Hsh49
lang: en
text: SAP49
lang: en
text: SF3b49
GeneType: Name: gene with protein product
Rare disease: Hereditary orotic aciduria (Orphanet code 30)
Associated genes:
Name: uridine monophosphate synthetase
Symbol: UMPS
Synonyms: lang: en
text: orotate phosphoribosyl transferase and orotidine-5'-decarboxylase
GeneType: Name: gene with protein product
Rare disease: Acrocallosal syndrome (Orphanet code 36)
Associated genes:
Name: GLI family zinc finger 3
Symbol: GLI3
Synonyms: lang: en
text: ACLS
lang: en
text: DNA-binding protein
lang: en
text: PAP-A
lang: en
text: PAPA
lang: en
text: PAPA1
lang: en
text: PAPB
lang: en
text: PPDIV
lang: en
text: oncogene GLI3
lang: en
text: zinc finger protein GLI3
GeneType: Name: gene with protein product
Name: kinesin family member 7
Symbol: KIF7
Synonyms: lang: en
text: JBTS12
GeneType: Name: gene with protein product
Rare disease: Aarskog-Scott syndrome (Orphanet code 915)
Associated genes:
Name: FYVE, RhoGEF and PH domain containing 1
Symbol: FGD1
Synonyms: lang: en
text: ZFYVE3
GeneType: Name: gene with protein product
Rare disease: Nail-patella syndrome (Orphanet code 2614)
Associated genes:
Name: LIM homeobox transcription factor 1 beta
Symbol: LMX1B
GeneType: Name: gene with protein product
Rare disease: Isovaleric acidemia (Orphanet code 33)
Associated genes:
Name: isovaleryl-CoA dehydrogenase
Symbol: IVD
Synonyms: lang: en
text: ACAD2
lang: en
text: IVDH
GeneType: Name: gene with protein product
Rare disease: Smith-Magenis syndrome (Orphanet code 819)
Associated genes:
Name: DEAF1 transcription factor
Symbol: DEAF1
Synonyms: lang: en
text: NUDR
lang: en
text: SPN
lang: en
text: ZMYND5
GeneType: Name: gene with protein product
Name: retinoic acid induced 1
Symbol: RAI1
Synonyms: lang: en
text: DKFZP434A139
lang: en
text: KIAA1820
lang: en
text: MGC12824
lang: en
text: SMS
GeneType: Name: gene with protein product
Name: FLII actin remodeling protein
Symbol: FLII
Synonyms: lang: en
text: FLI
lang: en
text: FLIL
lang: en
text: Fli1
lang: en
text: MGC39265
GeneType: Name: gene with protein product
Name: IQ motif and Sec7 domain ArfGEF 2
Symbol: IQSEC2
Synonyms: lang: en
text: BRAG1
lang: en
text: IQ-ArfGEF
lang: en
text: KIAA0522
lang: en
text: brefeldin A resistant Arf-guanine nucleotide exchange factor 1
GeneType: Name: gene with protein product
Rare disease: Hereditary persistence of alpha-fetoprotein (Orphanet code 168615)
Associated genes:
Name: alpha fetoprotein
Symbol: AFP
Synonyms: lang: en
text: FETA
lang: en
text: alpha-fetoprotein
GeneType: Name: gene with protein product
Rare disease: Congenital deficiency in alpha-fetoprotein (Orphanet code 168612)
Associated genes:
Name: alpha fetoprotein
Symbol: AFP
Synonyms: lang: en
text: FETA
lang: en
text: alpha-fetoprotein
GeneType: Name: gene with protein product
Rare disease: Cleidocranial dysplasia (Orphanet code 1452)
Associated genes:
Name: RUNX family transcription factor 2
Symbol: RUNX2
Synonyms: lang: en
text: AML3
lang: en
text: PEBP2A1
lang: en
text: PEBP2aA1
GeneType: Name: gene with protein product
Rare disease: Autosomal thrombocytopenia with normal platelets (Orphanet code 168629)
Associated genes:
Name: IKAROS family zinc finger 5
Symbol: IKZF5
Synonyms: lang: en
text: FLJ22973
lang: en
text: Pegasus
GeneType: Name: gene with protein product
Name: microtubule associated serine/threonine kinase like
Symbol: MASTL
Synonyms: lang: en
text: FLJ14813
lang: en
text: Gwl
lang: en
text: THC2
lang: en
text: greatwall kinase homolog
GeneType: Name: gene with protein product
Name: cytochrome c, somatic
Symbol: CYCS
Synonyms: lang: en
text: CYC
lang: en
text: HCS
GeneType: Name: gene with protein product
Name: ankyrin repeat domain containing 26
Symbol: ANKRD26
Synonyms: lang: en
text: KIAA1074
GeneType: Name: gene with protein product
Rare disease: Familial scaphocephaly syndrome, McGillivray type (Orphanet code 168624)
Associated genes:
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: Cohen syndrome (Orphanet code 193)
Associated genes:
Name: vacuolar protein sorting 13 homolog B
Symbol: VPS13B
Synonyms: lang: en
text: BLTP5B
lang: en
text: bridge-like lipid transfer protein family member 5B
GeneType: Name: gene with protein product
Rare disease: Chronic mucocutaneous candidiasis (Orphanet code 1334)
Associated genes:
Name: C-type lectin domain containing 7A
Symbol: CLEC7A
Synonyms: lang: en
text: CD369
lang: en
text: DECTIN-1
lang: en
text: SCARE2
lang: en
text: dectin-1
lang: en
text: hDectin-1
GeneType: Name: gene with protein product
Name: interleukin 17 receptor A
Symbol: IL17RA
Synonyms: lang: en
text: CD217
lang: en
text: CDw217
lang: en
text: IL-17RA
lang: en
text: hIL-17R
GeneType: Name: gene with protein product
Name: interleukin 17F
Symbol: IL17F
Synonyms: lang: en
text: IL-17F
lang: en
text: ML-1
lang: en
text: ML1
GeneType: Name: gene with protein product
Name: TRAF3 interacting protein 2
Symbol: TRAF3IP2
Synonyms: lang: en
text: ACT1
lang: en
text: CIKS
lang: en
text: DKFZP586G0522
GeneType: Name: gene with protein product
Name: interleukin 17 receptor C
Symbol: IL17RC
Synonyms: lang: en
text: IL17-RL
GeneType: Name: gene with protein product
Rare disease: Hereditary North American Indian childhood cirrhosis (Orphanet code 168583)
Associated genes:
Name: UTP4 small subunit processome component
Symbol: UTP4
Synonyms: lang: en
text: CIRHIN
lang: en
text: FLJ14728
lang: en
text: KIAA1988
lang: en
text: NAIC
lang: en
text: TEX292
lang: en
text: UTP4, small subunit (SSU) processome component, homolog (yeast)
GeneType: Name: gene with protein product
Rare disease: Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome (Orphanet code 1369)
Associated genes:
Name: triokinase and FMN cyclase
Symbol: TKFC
Synonyms: lang: en
text: DKFZP586B1621
lang: en
text: FAD-AMP lyase (cyclizing)
lang: en
text: NET45
GeneType: Name: gene with protein product
Name: solute carrier family 25 member 4
Symbol: SLC25A4
Synonyms: lang: en
text: AAC1
lang: en
text: ADP/ATP carrier 1
lang: en
text: ADP/ATP translocase 1
lang: en
text: T1
GeneType: Name: gene with protein product
Name: acylglycerol kinase
Symbol: AGK
Synonyms: lang: en
text: FLJ10842
GeneType: Name: gene with protein product
Rare disease: Hereditary cryohydrocytosis with reduced stomatin (Orphanet code 168577)
Associated genes:
Name: solute carrier family 2 member 1
Symbol: SLC2A1
Synonyms: lang: en
text: DYT18
lang: en
text: DYT9
lang: en
text: GLUT-1
lang: en
text: dystonia gene 18
lang: en
text: dystonia gene 9
GeneType: Name: gene with protein product
Rare disease: Sudden infant death-dysgenesis of the testes syndrome (Orphanet code 168593)
Associated genes:
Name: TSPY like 1
Symbol: TSPYL1
GeneType: Name: gene with protein product
Rare disease: Hyperandrogenism due to cortisone reductase deficiency (Orphanet code 168588)
Associated genes:
Name: hexose-6-phosphate dehydrogenase/glucose 1-dehydrogenase
Symbol: H6PD
Synonyms: lang: en
text: 6-phosphogluconolactonase
lang: en
text: GDH/6PGL endoplasmic bifunctional protein
lang: en
text: H6PDH
GeneType: Name: gene with protein product
Name: hydroxysteroid 11-beta dehydrogenase 1
Symbol: HSD11B1
Synonyms: lang: en
text: SDR26C1
lang: en
text: short chain dehydrogenase/reductase family 26C, member 1
GeneType: Name: gene with protein product
Rare disease: Congenital enteropathy due to enteropeptidase deficiency (Orphanet code 168601)
Associated genes:
Name: transmembrane serine protease 15
Symbol: TMPRSS15
Synonyms: lang: en
text: ENTK
lang: en
text: MGC133046
lang: en
text: enteropeptidase
lang: en
text: proenterokinase
GeneType: Name: gene with protein product
Rare disease: Methionine adenosyltransferase I/III deficiency (Orphanet code 168598)
Associated genes:
Name: methionine adenosyltransferase 1A
Symbol: MAT1A
Synonyms: lang: en
text: MAT
lang: en
text: MAT-I/III
lang: en
text: MATA1
lang: en
text: S-adenosylmethionine synthase isoform type-1
lang: en
text: S-adenosylmethionine synthetase
lang: en
text: SAMS
lang: en
text: SAMS1
lang: en
text: methionine adenosyltransferase I/III
GeneType: Name: gene with protein product
Rare disease: Seborrhea-like dermatitis with psoriasiform elements (Orphanet code 168606)
Associated genes:
Name: zinc finger protein 750
Symbol: ZNF750
Synonyms: lang: en
text: FLJ13841
lang: en
text: Zfp750
GeneType: Name: gene with protein product
Rare disease: Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome (Orphanet code 1154)
Associated genes:
Name: piezo type mechanosensitive ion channel component 2
Symbol: PIEZO2
Synonyms: lang: en
text: FLJ23144
lang: en
text: FLJ23403
lang: en
text: FLJ34907
lang: en
text: HsT748
lang: en
text: HsT771
GeneType: Name: gene with protein product
Rare disease: 46,XY difference of sex development-adrenal insufficiency due to CYP11A1 deficiency (Orphanet code 168558)
Associated genes:
Name: cytochrome P450 family 11 subfamily A member 1
Symbol: CYP11A1
Synonyms: lang: en
text: P450SCC
lang: en
text: cholesterol monooxygenase (side-chain-cleaving)
GeneType: Name: gene with protein product
Rare disease: 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome (Orphanet code 168563)
Associated genes:
Name: desert hedgehog signaling molecule
Symbol: DHH
Synonyms: lang: en
text: HHG-3
lang: en
text: MGC35145
GeneType: Name: gene with protein product
Rare disease: Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 (Orphanet code 168566)
Associated genes:
Name: Ts translation elongation factor, mitochondrial
Symbol: TSFM
Synonyms: lang: en
text: EF-TS
lang: en
text: EF-Tsmt
GeneType: Name: gene with protein product
Rare disease: Caffey disease (Orphanet code 1310)
Associated genes:
Name: collagen type I alpha 1 chain
Symbol: COL1A1
Synonyms: lang: en
text: OI4
GeneType: Name: gene with protein product
Rare disease: H syndrome (Orphanet code 168569)
Associated genes:
Name: solute carrier family 29 member 3
Symbol: SLC29A3
Synonyms: lang: en
text: ENT3
lang: en
text: FLJ11160
lang: en
text: hENT3
GeneType: Name: gene with protein product
Rare disease: Native American myopathy (Orphanet code 168572)
Associated genes:
Name: SH3 and cysteine rich domain 3
Symbol: STAC3
Synonyms: lang: en
text: MGC2793
GeneType: Name: gene with protein product