TaoMedAI/RareMedData huggingface dataset:
Rare disease: Total early-onset cataract (Orphanet code 98994)
Associated genes:
Name: crystallin alpha A
Symbol: CRYAA
Synonyms: lang: en
text: HSPB4
GeneType: Name: gene with protein product
Name: crystallin beta B2
Symbol: CRYBB2
GeneType: Name: gene with protein product
Name: gap junction protein alpha 8
Symbol: GJA8
Synonyms: lang: en
text: CX50
lang: en
text: connexin 50
GeneType: Name: gene with protein product
Name: heat shock transcription factor 4
Symbol: HSF4
GeneType: Name: gene with protein product
Name: major intrinsic protein of lens fiber
Symbol: MIP
Synonyms: lang: en
text: AQP0
lang: en
text: LIM1
lang: en
text: MP26
lang: en
text: aquaporin 0
GeneType: Name: gene with protein product
Name: NHS actin remodeling regulator
Symbol: NHS
GeneType: Name: gene with protein product
Name: lens intrinsic membrane protein 2
Symbol: LIM2
Synonyms: lang: en
text: MP17
lang: en
text: MP19
GeneType: Name: gene with protein product
Name: EPH receptor A2
Symbol: EPHA2
GeneType: Name: gene with protein product
Name: FYVE and coiled-coil domain autophagy adaptor 1
Symbol: FYCO1
Synonyms: lang: en
text: FLJ13335
lang: en
text: ZFYVE7
GeneType: Name: gene with protein product
Name: acylglycerol kinase
Symbol: AGK
Synonyms: lang: en
text: FLJ10842
GeneType: Name: gene with protein product
Name: crystallin gamma B
Symbol: CRYGB
GeneType: Name: gene with protein product
Name: glucosaminyl (N-acetyl) transferase 2 (I blood group)
Symbol: GCNT2
Synonyms: lang: en
text: IGNT
lang: en
text: Ii blood group
lang: en
text: NAGCT1
lang: en
text: ULG3
lang: en
text: bA360O19.2
lang: en
text: bA421M1.1
lang: en
text: unassigned linkage group 3
GeneType: Name: gene with protein product
Name: lanosterol synthase
Symbol: LSS
Synonyms: lang: en
text: OSC
lang: en
text: Oxidosqualene-lanosterol cyclase
GeneType: Name: gene with protein product
Name: progesterone receptor membrane component 1
Symbol: PGRMC1
Synonyms: lang: en
text: HPR6.6
GeneType: Name: gene with protein product
Name: LEM domain nuclear envelope protein 2
Symbol: LEMD2
Synonyms: lang: en
text: LEM2
lang: en
text: NET25
lang: en
text: dJ482C21.1
lang: en
text: lamina-associated polypeptide-emerin-MAN1 domain containing 2
GeneType: Name: gene with protein product
Name: dynamin binding protein
Symbol: DNMBP
Synonyms: lang: en
text: ARHGEF36
lang: en
text: KIAA1010
lang: en
text: Tuba
lang: en
text: scaffold protein TUBA
GeneType: Name: gene with protein product
Name: signal induced proliferation associated 1 like 3
Symbol: SIPA1L3
Synonyms: lang: en
text: KIAA0545
lang: en
text: SPAR3
lang: en
text: spine-associated RapGAP 3
GeneType: Name: gene with protein product
Rare disease: Early-onset posterior polar cataract (Orphanet code 98993)
Associated genes:
Name: paired like homeodomain 3
Symbol: PITX3
GeneType: Name: gene with protein product
Name: crystallin alpha B
Symbol: CRYAB
Synonyms: lang: en
text: HSPB5
GeneType: Name: gene with protein product
Name: crystallin beta A1
Symbol: CRYBA1
Synonyms: lang: en
text: eye lens structural protein
GeneType: Name: gene with protein product
Name: gap junction protein alpha 3
Symbol: GJA3
Synonyms: lang: en
text: CX46
lang: en
text: connexin 46
GeneType: Name: gene with protein product
Name: major intrinsic protein of lens fiber
Symbol: MIP
Synonyms: lang: en
text: AQP0
lang: en
text: LIM1
lang: en
text: MP26
lang: en
text: aquaporin 0
GeneType: Name: gene with protein product
Name: charged multivesicular body protein 4B
Symbol: CHMP4B
Synonyms: lang: en
text: SNF7-2
lang: en
text: Shax1
lang: en
text: VPS32B
lang: en
text: dJ553F4.4
GeneType: Name: gene with protein product
Name: EPH receptor A2
Symbol: EPHA2
GeneType: Name: gene with protein product
Name: pantothenate kinase 4 (inactive)
Symbol: PANK4
Synonyms: lang: en
text: FLJ10782
GeneType: Name: gene with protein product
Rare disease: Butterfly-shaped pigment dystrophy (Orphanet code 99001)
Associated genes:
Name: peripherin 2
Symbol: PRPH2
Synonyms: lang: en
text: CACD2
lang: en
text: TSPAN22
lang: en
text: choroidal dystrophy, central areolar 2
lang: en
text: rd2
lang: en
text: retinal peripherin
lang: en
text: tetraspanin-22
GeneType: Name: gene with protein product
Name: orthodenticle homeobox 2
Symbol: OTX2
GeneType: Name: gene with protein product
Name: catenin alpha 1
Symbol: CTNNA1
Synonyms: lang: en
text: CAP102
lang: en
text: alpha-E-catenin
GeneType: Name: gene with protein product
Rare disease: Reticular dystrophy of the retinal pigment epithelium (Orphanet code 99002)
Associated genes:
Name: RCC1 and BTB domain containing protein 1
Symbol: RCBTB1
Synonyms: lang: en
text: CLLD7
lang: en
text: CLLL7
lang: en
text: FLJ10716
GeneType: Name: gene with protein product
Rare disease: Adult-onset foveomacular vitelliform dystrophy (Orphanet code 99000)
Associated genes:
Name: peripherin 2
Symbol: PRPH2
Synonyms: lang: en
text: CACD2
lang: en
text: TSPAN22
lang: en
text: choroidal dystrophy, central areolar 2
lang: en
text: rd2
lang: en
text: retinal peripherin
lang: en
text: tetraspanin-22
GeneType: Name: gene with protein product
Name: bestrophin 1
Symbol: BEST1
Synonyms: lang: en
text: BEST
lang: en
text: BMD
lang: en
text: Best disease
lang: en
text: RP50
GeneType: Name: gene with protein product
Name: interphotoreceptor matrix proteoglycan 2
Symbol: IMPG2
Synonyms: lang: en
text: IPM200
lang: en
text: RP56
lang: en
text: SPACRCAN
GeneType: Name: gene with protein product
Name: interphotoreceptor matrix proteoglycan 1
Symbol: IMPG1
Synonyms: lang: en
text: GP147
lang: en
text: IPM150
GeneType: Name: gene with protein product
Rare disease: Multifocal pattern dystrophy simulating fundus flavimaculatus (Orphanet code 99003)
Associated genes:
Name: peripherin 2
Symbol: PRPH2
Synonyms: lang: en
text: CACD2
lang: en
text: TSPAN22
lang: en
text: choroidal dystrophy, central areolar 2
lang: en
text: rd2
lang: en
text: retinal peripherin
lang: en
text: tetraspanin-22
GeneType: Name: gene with protein product
Rare disease: Spastic paraplegia type 7 (Orphanet code 99013)
Associated genes:
Name: SPG7 matrix AAA peptidase subunit, paraplegin
Symbol: SPG7
Synonyms: lang: en
text: CAR
lang: en
text: SPG5C
lang: en
text: paraplegin
GeneType: Name: gene with protein product
Rare disease: X-linked Charcot-Marie-Tooth disease type 5 (Orphanet code 99014)
Associated genes:
Name: phosphoribosyl pyrophosphate synthetase 1
Symbol: PRPS1
Synonyms: lang: en
text: CMTX5
lang: en
text: DFNX1
lang: en
text: PPRibP
lang: en
text: PRS I
lang: en
text: PRS-I
lang: en
text: ribose-phosphate diphosphokinase 1
GeneType: Name: gene with protein product
Rare disease: Spastic paraplegia type 2 (Orphanet code 99015)
Associated genes:
Name: proteolipid protein 1
Symbol: PLP1
Synonyms: lang: en
text: GPM6C
lang: en
text: Pelizaeus-Merzbacher disease
GeneType: Name: gene with protein product
Rare disease: B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality (Orphanet code 585877)
Associated genes:
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
Name: forkhead box P1
Symbol: FOXP1
Synonyms: lang: en
text: 12CC4
lang: en
text: HSPC215
lang: en
text: PAX5/FOXP1 fusion protein
lang: en
text: QRF1
lang: en
text: fork head-related protein like B
lang: en
text: glutamine-rich factor 1
lang: en
text: hFKH1B
GeneType: Name: gene with protein product
Rare disease: B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) (Orphanet code 585909)
Associated genes:
Name: cyclin dependent kinase inhibitor 2A
Symbol: CDKN2A
Synonyms: lang: en
text: ARF
lang: en
text: CAI2
lang: en
text: CDK4I
lang: en
text: CDKN2A/ARF Intron 2 lncRNA
lang: en
text: CMM2
lang: en
text: INK4
lang: en
text: INK4a
lang: en
text: MTS1
lang: en
text: P16-INK4A
lang: en
text: cyclin-dependent kinase 4 inhibitor A
lang: en
text: inhibitor of cdk4 A
lang: en
text: multiple tumour suppressor 1
lang: en
text: p14
lang: en
text: p14 alternate open reading frame
lang: en
text: p14ARF
lang: en
text: p16
lang: en
text: p16INK4a
lang: en
text: p19
lang: en
text: p19 alternate open reading frame
lang: en
text: p19Arf
GeneType: Name: gene with protein product
Name: ABL proto-oncogene 1, non-receptor tyrosine kinase
Symbol: ABL1
Synonyms: lang: en
text: JTK7
lang: en
text: c-ABL
lang: en
text: p150
GeneType: Name: gene with protein product
Name: BCR activator of RhoGEF and GTPase
Symbol: BCR
Synonyms: lang: en
text: ALL
lang: en
text: CML
lang: en
text: D22S662
lang: en
text: PHL
GeneType: Name: gene with protein product
Name: IKAROS family zinc finger 1
Symbol: IKZF1
Synonyms: lang: en
text: Hs.54452
lang: en
text: IKAROS
lang: en
text: LyF-1
lang: en
text: PPP1R92
lang: en
text: hIk-1
lang: en
text: protein phosphatase 1, regulatory subunit 92
GeneType: Name: gene with protein product
Name: tumor protein p53
Symbol: TP53
Synonyms: lang: en
text: LFS1
lang: en
text: Li-Fraumeni syndrome
lang: en
text: P53
lang: en
text: p53
GeneType: Name: gene with protein product
Name: fms related receptor tyrosine kinase 3
Symbol: FLT3
Synonyms: lang: en
text: CD135
lang: en
text: FLK2
lang: en
text: STK1
GeneType: Name: gene with protein product
Name: major histocompatibility complex, class I, C
Symbol: HLA-C
GeneType: Name: gene with protein product
Rare disease: B-lymphoblastic leukemia/lymphoma with hyperdiploidy (Orphanet code 585936)
Associated genes:
Name: GATA binding protein 3
Symbol: GATA3
Synonyms: lang: en
text: HDR
GeneType: Name: gene with protein product
Name: phosphatidylinositol-5-phosphate 4-kinase type 2 alpha
Symbol: PIP4K2A
Synonyms: lang: en
text: PIP5KIIA
lang: en
text: PIP5KIIalpha
GeneType: Name: gene with protein product
Rare disease: B-lymphoblastic leukemia/lymphoma with t(v;11q23.3) (Orphanet code 585918)
Associated genes:
Name: lysine methyltransferase 2A
Symbol: KMT2A
Synonyms: lang: en
text: ALL-1
lang: en
text: ALL1
lang: en
text: CXXC7
lang: en
text: HRX
lang: en
text: HTRX
lang: en
text: HTRX1
lang: en
text: Histone-lysine N-methyltransferase 2A
lang: en
text: MLL1
lang: en
text: MLL1A
lang: en
text: TRX1
GeneType: Name: gene with protein product
Rare disease: B-lymphoblastic leukemia/lymphoma with t(12;21)(p13.2;q22.1) (Orphanet code 585929)
Associated genes:
Name: ETS variant transcription factor 6
Symbol: ETV6
Synonyms: lang: en
text: TEL
lang: en
text: TEL oncogene
GeneType: Name: gene with protein product
Rare disease: Adult-onset autosomal dominant leukodystrophy (Orphanet code 99027)
Associated genes:
Name: lamin B1
Symbol: LMNB1
GeneType: Name: gene with protein product
Rare disease: B-lymphoblastic leukemia/lymphoma with t(1;19)(q23;p13.3) (Orphanet code 585956)
Associated genes:
Name: transcription factor 3
Symbol: TCF3
Synonyms: lang: en
text: E2A
lang: en
text: E2A immunoglobulin enhancer-binding factor E12/E47
lang: en
text: E47
lang: en
text: ITF1
lang: en
text: MGC129647
lang: en
text: MGC129648
lang: en
text: VDIR
lang: en
text: VDR interacting repressor
lang: en
text: bHLHb21
lang: en
text: immunoglobulin transcription factor 1
lang: en
text: kappa-E2-binding factor
lang: en
text: p75
lang: en
text: transcription factor E2-alpha
GeneType: Name: gene with protein product
Name: PBX homeobox 1
Symbol: PBX1
GeneType: Name: gene with protein product
Rare disease: B-lymphoblastic leukemia/lymphoma with t(5;14)(q31.1;q32.3) (Orphanet code 585948)
Associated genes:
Name: immunoglobulin heavy locus
Symbol: IGH
GeneType: Name: gene with protein product
Rare disease: Congenitally uncorrected transposition of the great arteries with coarctation (Orphanet code 99042)
Associated genes:
Name: cryptic, EGF-CFC family member 1
Symbol: CFC1
Synonyms: lang: en
text: CRYPTIC
GeneType: Name: gene with protein product
Rare disease: Autosomal recessive isolated optic atrophy (Orphanet code 98676)
Associated genes:
Name: YME1 like 1 ATPase
Symbol: YME1L1
Synonyms: lang: en
text: YME1L
GeneType: Name: gene with protein product
Name: aconitase 2
Symbol: ACO2
Synonyms: lang: en
text: ACONM
lang: en
text: aconitate hydratase, mitochondrial
lang: en
text: mitochondrial aconitase
GeneType: Name: gene with protein product
Name: reticulon 4 interacting protein 1
Symbol: RTN4IP1
Synonyms: lang: en
text: NIMP
GeneType: Name: gene with protein product
Name: malonyl-CoA-acyl carrier protein transacylase
Symbol: MCAT
Synonyms: lang: en
text: FASN2C
lang: en
text: MCT
lang: en
text: MCT1
lang: en
text: MT
lang: en
text: NET62
lang: en
text: [acyl-carrier-protein] S-malonyltransferase
lang: en
text: fabD
GeneType: Name: gene with protein product
Rare disease: Autosomal dominant optic atrophy, classic form (Orphanet code 98673)
Associated genes:
Name: OPA1 mitochondrial dynamin like GTPase
Symbol: OPA1
Synonyms: lang: en
text: Dynamin-like 120 kDa protein, mitochondrial
lang: en
text: FLJ12460
lang: en
text: KIAA0567
lang: en
text: MGM1
lang: en
text: NPG
lang: en
text: NTG
lang: en
text: dynamin-like guanosine triphosphatase
lang: en
text: mitochondrial dynamin-like GTPase
GeneType: Name: gene with protein product
Name: dynamin 1 like
Symbol: DNM1L
Synonyms: lang: en
text: DRP1
lang: en
text: DVLP
lang: en
text: DYMPLE
lang: en
text: HDYNIV
lang: en
text: VPS1
GeneType: Name: gene with protein product
Rare disease: Rare isolated myopia (Orphanet code 98619)
Associated genes:
Name: synthesis of cytochrome C oxidase 2
Symbol: SCO2
Synonyms: lang: en
text: SCO1L
GeneType: Name: gene with protein product
Name: prolyl 3-hydroxylase 2
Symbol: P3H2
Synonyms: lang: en
text: FLJ10718
lang: en
text: MLAT4
lang: en
text: procollagen-proline 3-dioxygenase 2
GeneType: Name: gene with protein product
Name: LDL receptor related protein associated protein 1
Symbol: LRPAP1
Synonyms: lang: en
text: Alpha-2-MRAP
lang: en
text: HBP44
GeneType: Name: gene with protein product
Rare disease: Neu-Laxova syndrome due to phosphoserine aminotransferase deficiency (Orphanet code 583602)
Associated genes:
Name: phosphoserine aminotransferase 1
Symbol: PSAT1
Synonyms: lang: en
text: PSA
lang: en
text: PSAT
lang: en
text: phosphoserine transaminase
GeneType: Name: gene with protein product
Rare disease: Neu-Laxova syndrome due to 3-phosphoglycerate dehydrogenase deficiency (Orphanet code 583607)
Associated genes:
Name: phosphoglycerate dehydrogenase
Symbol: PHGDH
Synonyms: lang: en
text: D-3-phosphoglycerate dehydrogenase
lang: en
text: PDG
lang: en
text: PGDH
lang: en
text: SERA
GeneType: Name: gene with protein product
Rare disease: Neu-Laxova syndrome due to 3-phosphoserine phosphatase deficiency (Orphanet code 583612)
Associated genes:
Name: phosphoserine phosphatase
Symbol: PSPH
GeneType: Name: gene with protein product
Rare disease: Angelman syndrome due to paternal uniparental disomy of chromosome 15 (Orphanet code 98795)
Associated genes:
Name: ubiquitin protein ligase E3A
Symbol: UBE3A
Synonyms: lang: en
text: ANCR
lang: en
text: AS
lang: en
text: Angelman syndrome
lang: en
text: E6-AP
lang: en
text: FLJ26981
GeneType: Name: gene with protein product
Rare disease: Angelman syndrome due to maternal 15q11q13 deletion (Orphanet code 98794)
Associated genes:
Name: ubiquitin protein ligase E3A
Symbol: UBE3A
Synonyms: lang: en
text: ANCR
lang: en
text: AS
lang: en
text: Angelman syndrome
lang: en
text: E6-AP
lang: en
text: FLJ26981
GeneType: Name: gene with protein product
Name: OCA2 melanosomal transmembrane protein
Symbol: OCA2
Synonyms: lang: en
text: BEY
lang: en
text: BEY1
lang: en
text: BEY2
lang: en
text: EYCL
lang: en
text: P-protein
lang: en
text: melanocyte-specific transporter protein
GeneType: Name: gene with protein product
Rare disease: Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16 (Orphanet code 98791)
Associated genes:
Name: hemoglobin subunit alpha 2
Symbol: HBA2
Synonyms: lang: en
text: HBA-T2
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
Rare disease: Primary dystonia, DYT6 type (Orphanet code 98806)
Associated genes:
Name: THAP domain containing 1
Symbol: THAP1
Synonyms: lang: en
text: 4833431A01Rik
lang: en
text: FLJ10477
GeneType: Name: gene with protein product
Rare disease: Primary dystonia, DYT4 type (Orphanet code 98805)
Associated genes:
Name: tubulin beta 4A class IVa
Symbol: TUBB4A
Synonyms: lang: en
text: beta-5
lang: en
text: class IVa beta-tubulin
GeneType: Name: gene with protein product
Rare disease: Autosomal dominant nocturnal frontal lobe epilepsy (Orphanet code 98784)
Associated genes:
Name: cholinergic receptor nicotinic alpha 4 subunit
Symbol: CHRNA4
Synonyms: lang: en
text: BFNC
lang: en
text: acetylcholine receptor, nicotinic, alpha 4 (neuronal)
GeneType: Name: gene with protein product
Name: cholinergic receptor nicotinic alpha 2 subunit
Symbol: CHRNA2
Synonyms: lang: en
text: acetylcholine receptor, nicotinic, alpha 2 (neuronal)
GeneType: Name: gene with protein product
Name: cholinergic receptor nicotinic beta 2 subunit
Symbol: CHRNB2
Synonyms: lang: en
text: acetylcholine receptor, nicotinic, beta 2 (neuronal)
GeneType: Name: gene with protein product
Name: potassium sodium-activated channel subfamily T member 1
Symbol: KCNT1
Synonyms: lang: en
text: KCa4.1
lang: en
text: KIAA1422
lang: en
text: SLACK
lang: en
text: Sequence like a calcium-activated K+ channel
lang: en
text: Slo2.2
GeneType: Name: gene with protein product
Name: DEP domain containing 5, GATOR1 subcomplex subunit
Symbol: DEPDC5
Synonyms: lang: en
text: DEP.5
lang: en
text: KIAA0645
GeneType: Name: gene with protein product
Name: corticotropin releasing hormone
Symbol: CRH
Synonyms: lang: en
text: CRF
lang: en
text: CRH1
lang: en
text: corticoliberin
lang: en
text: corticotropin-releasing factor
GeneType: Name: gene with protein product
Name: calcium binding protein 4
Symbol: CABP4
Synonyms: lang: en
text: CSNB2B
GeneType: Name: gene with protein product
Rare disease: Spinocerebellar ataxia type 27 (Orphanet code 98764)
Associated genes:
Name: fibroblast growth factor 14
Symbol: FGF14
Synonyms: lang: en
text: FHF4
lang: en
text: SCA27
GeneType: Name: gene with protein product
Rare disease: Spinocerebellar ataxia type 14 (Orphanet code 98763)
Associated genes:
Name: protein kinase C gamma
Symbol: PRKCG
Synonyms: lang: en
text: MGC57564
lang: en
text: PKC-gamma
lang: en
text: PKC?
lang: en
text: PKCC
GeneType: Name: gene with protein product
Rare disease: Spinocerebellar ataxia type 5 (Orphanet code 98766)
Associated genes:
Name: spectrin beta, non-erythrocytic 2
Symbol: SPTBN2
GeneType: Name: gene with protein product
Rare disease: Spinocerebellar ataxia type 4 (Orphanet code 98765)
Associated genes:
Name: pleckstrin homology and RhoGEF domain containing G4
Symbol: PLEKHG4
Synonyms: lang: en
text: ARHGEF44
lang: en
text: DKFZP434I216
lang: en
text: puratrophin-1
GeneType: Name: gene with protein product
Rare disease: Spinocerebellar ataxia type 8 (Orphanet code 98760)
Associated genes:
Name: ataxin 8
Symbol: ATXN8
GeneType: Name: gene with protein product
Name: ATXN8 opposite strand lncRNA
Symbol: ATXN8OS
Synonyms: lang: en
text: NCRNA00003
lang: en
text: non-protein coding RNA 3
GeneType: Name: Non-coding RNA
Rare disease: Spinocerebellar ataxia type 17 (Orphanet code 98759)
Associated genes:
Name: TATA-box binding protein
Symbol: TBP
Synonyms: lang: en
text: Spinocerebellar ataxia 17
lang: en
text: TBP1
lang: en
text: TFIID
GeneType: Name: gene with protein product
Rare disease: Spinocerebellar ataxia type 12 (Orphanet code 98762)
Associated genes:
Name: protein phosphatase 2 regulatory subunit Bbeta
Symbol: PPP2R2B
Synonyms: lang: en
text: B55beta
lang: en
text: PP2A subunit B isoform beta
lang: en
text: PR52B
lang: en
text: PR55-BETA
GeneType: Name: gene with protein product
Rare disease: Spinocerebellar ataxia type 10 (Orphanet code 98761)
Associated genes:
Name: ataxin 10
Symbol: ATXN10
Synonyms: lang: en
text: ATX10
lang: en
text: E46L
lang: en
text: FLJ37990
GeneType: Name: gene with protein product
Rare disease: Spinocerebellar ataxia type 19/22 (Orphanet code 98772)
Associated genes:
Name: potassium voltage-gated channel subfamily D member 3
Symbol: KCND3
Synonyms: lang: en
text: KSHIVB
lang: en
text: Kv4.3
GeneType: Name: gene with protein product
Rare disease: Spinocerebellar ataxia type 18 (Orphanet code 98771)
Associated genes:
Name: interferon related developmental regulator 1
Symbol: IFRD1
Synonyms: lang: en
text: PC4
lang: en
text: TIS7
GeneType: Name: gene with protein product
Rare disease: Spinocerebellar ataxia type 21 (Orphanet code 98773)
Associated genes:
Name: transmembrane protein 240
Symbol: TMEM240
GeneType: Name: gene with protein product
Rare disease: Spinocerebellar ataxia type 13 (Orphanet code 98768)
Associated genes:
Name: potassium voltage-gated channel subfamily C member 3
Symbol: KCNC3
Synonyms: lang: en
text: Kv3.3
GeneType: Name: gene with protein product
Rare disease: Spinocerebellar ataxia type 11 (Orphanet code 98767)
Associated genes:
Name: tau tubulin kinase 2
Symbol: TTBK2
Synonyms: lang: en
text: KIAA0847
GeneType: Name: gene with protein product
Rare disease: Spinocerebellar ataxia type 15/16 (Orphanet code 98769)
Associated genes:
Name: inositol 1,4,5-trisphosphate receptor type 1
Symbol: ITPR1
Synonyms: lang: en
text: ACV
lang: en
text: IP3R1
lang: en
text: Insp3r1
lang: en
text: PPP1R94
lang: en
text: protein phosphatase 1, regulatory subunit 94
GeneType: Name: gene with protein product
Rare disease: QRICH1-related intellectual disability-chondrodysplasia syndrome (Orphanet code 580940)
Associated genes:
Name: glutamine rich 1
Symbol: QRICH1
Synonyms: lang: en
text: AB-DIP
lang: en
text: FLJ20259
lang: en
text: VERBRAS
GeneType: Name: gene with protein product
Rare disease: Lethal brain and heart developmental defects (Orphanet code 580933)
Associated genes:
Name: sirtuin 6
Symbol: SIRT6
GeneType: Name: gene with protein product
Rare disease: Spinocerebellar ataxia type 1 (Orphanet code 98755)
Associated genes:
Name: ataxin 1
Symbol: ATXN1
Synonyms: lang: en
text: ATX1
lang: en
text: D6S504E
GeneType: Name: gene with protein product
Rare disease: Spinocerebellar ataxia type 2 (Orphanet code 98756)
Associated genes:
Name: ataxin 2
Symbol: ATXN2
Synonyms: lang: en
text: ATX2
lang: en
text: trinucleotide repeat containing 13
GeneType: Name: gene with protein product
Rare disease: Spinocerebellar ataxia type 6 (Orphanet code 98758)
Associated genes:
Name: calcium voltage-gated channel subunit alpha1 A
Symbol: CACNA1A
Synonyms: lang: en
text: APCA
lang: en
text: Cav2.1
lang: en
text: EA2
lang: en
text: FHM
lang: en
text: HPCA
GeneType: Name: gene with protein product
Rare disease: Cramp-fasciculation syndrome (Orphanet code 581271)
Associated genes:
Name: transient receptor potential cation channel subfamily A member 1
Symbol: TRPA1
GeneType: Name: gene with protein product
Rare disease: Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 (Orphanet code 98754)
Associated genes:
Name: small nuclear ribonucleoprotein polypeptide N
Symbol: SNRPN
Synonyms: lang: en
text: HCERN3
lang: en
text: RT-LI
lang: en
text: SM protein N
lang: en
text: SM-D
lang: en
text: SMN
lang: en
text: SNRNP-N
lang: en
text: SNURF-SNRPN
lang: en
text: small nuclear ribonucleoprotein N
lang: en
text: tissue-specific splicing protein
GeneType: Name: gene with protein product
Name: MAGE family member L2
Symbol: MAGEL2
Synonyms: lang: en
text: nM15
GeneType: Name: gene with protein product
Name: necdin, MAGE family member
Symbol: NDN
Synonyms: lang: en
text: HsT16328
lang: en
text: PWCR
lang: en
text: Prader-Willi syndrome chromosome region
GeneType: Name: gene with protein product
Name: OCA2 melanosomal transmembrane protein
Symbol: OCA2
Synonyms: lang: en
text: BEY
lang: en
text: BEY1
lang: en
text: BEY2
lang: en
text: EYCL
lang: en
text: P-protein
lang: en
text: melanocyte-specific transporter protein
GeneType: Name: gene with protein product
Rare disease: Partial atrioventricular septal defect with ventricular hypoplasia (Orphanet code 576232)
Associated genes:
Name: GATA binding protein 4
Symbol: GATA4
GeneType: Name: gene with protein product
Rare disease: Partial atrioventricular septal defect without ventricular hypoplasia (Orphanet code 576235)
Associated genes:
Name: cysteine rich with EGF like domains 1
Symbol: CRELD1
Synonyms: lang: en
text: CIRRIN
GeneType: Name: gene with protein product