TaoMedAI/RareMedData huggingface dataset:
Rare disease: Hereditary sensory and autonomic neuropathy type 2 (Orphanet code 970)
Associated genes:
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
Name: WNK lysine deficient protein kinase 1
Symbol: WNK1
Synonyms: lang: en
text: HSAN2
lang: en
text: PPP1R167
lang: en
text: protein phosphatase 1, regulatory subunit 167
GeneType: Name: gene with protein product
Name: reticulophagy regulator 1
Symbol: RETREG1
Synonyms: lang: en
text: FLJ20152
lang: en
text: JK1
GeneType: Name: gene with protein product
Name: kinesin family member 1A
Symbol: KIF1A
Synonyms: lang: en
text: UNC104
GeneType: Name: gene with protein product
Rare disease: Acromesomelic dysplasia, Maroteaux type (Orphanet code 40)
Associated genes:
Name: natriuretic peptide receptor 2
Symbol: NPR2
Synonyms: lang: en
text: ANPb
lang: en
text: GC-B
lang: en
text: GUCY2B
lang: en
text: guanylate cyclase 2B
lang: en
text: guanylyl cyclase B
GeneType: Name: gene with protein product
Rare disease: Acromicric dysplasia (Orphanet code 969)
Associated genes:
Name: fibrillin 1
Symbol: FBN1
Synonyms: lang: en
text: MASS
lang: en
text: Marfan syndrome
lang: en
text: OCTD
lang: en
text: SGS
lang: en
text: asprosin
GeneType: Name: gene with protein product
Name: latent transforming growth factor beta binding protein 3
Symbol: LTBP3
GeneType: Name: gene with protein product
Rare disease: Adams-Oliver syndrome (Orphanet code 974)
Associated genes:
Name: notch receptor 1
Symbol: NOTCH1
GeneType: Name: gene with protein product
Name: Rho GTPase activating protein 31
Symbol: ARHGAP31
Synonyms: lang: en
text: CDGAP
GeneType: Name: gene with protein product
Name: dedicator of cytokinesis 6
Symbol: DOCK6
Synonyms: lang: en
text: KIAA1395
lang: en
text: ZIR1
GeneType: Name: gene with protein product
Name: recombination signal binding protein for immunoglobulin kappa J region
Symbol: RBPJ
Synonyms: lang: en
text: CBF1
lang: en
text: IGKJRB
lang: en
text: KBF2
lang: en
text: RBP-J
lang: en
text: RBPJK
lang: en
text: SUH
lang: en
text: suppressor of hairless homolog (Drosophila)
GeneType: Name: gene with protein product
Name: EGF domain specific O-linked N-acetylglucosamine transferase
Symbol: EOGT
Synonyms: lang: en
text: AER61
lang: en
text: AER61 glycosyltransferase
lang: en
text: FLJ33770
GeneType: Name: gene with protein product
Name: delta like canonical Notch ligand 4
Symbol: DLL4
GeneType: Name: gene with protein product
Rare disease: Hereditary continuous muscle fiber activity (Orphanet code 972)
Associated genes:
Name: potassium voltage-gated channel subfamily A member 1
Symbol: KCNA1
Synonyms: lang: en
text: HUK1
lang: en
text: Kv1.1
lang: en
text: MBK1
lang: en
text: RBK1
GeneType: Name: gene with protein product
Rare disease: Acro-renal-ocular syndrome (Orphanet code 959)
Associated genes:
Name: spalt like transcription factor 4
Symbol: SALL4
Synonyms: lang: en
text: ZNF797
lang: en
text: dJ1112F19.1
GeneType: Name: gene with protein product
Rare disease: Acromesomelic dysplasia, Hunter-Thompson type (Orphanet code 968)
Associated genes:
Name: growth differentiation factor 5
Symbol: GDF5
Synonyms: lang: en
text: BMP14
lang: en
text: CDMP1
lang: en
text: cartilage-derived morphogenetic protein-1
GeneType: Name: gene with protein product
Rare disease: Enamel-renal syndrome (Orphanet code 1031)
Associated genes:
Name: FAM20A golgi associated secretory pathway pseudokinase
Symbol: FAM20A
Synonyms: lang: en
text: DKFZp434F2322
GeneType: Name: gene with protein product
Rare disease: Alström syndrome (Orphanet code 64)
Associated genes:
Name: ALMS1 centrosome and basal body associated protein
Symbol: ALMS1
Synonyms: lang: en
text: KIAA0328
GeneType: Name: gene with protein product
Rare disease: X-linked cerebral adrenoleukodystrophy (Orphanet code 139396)
Associated genes:
Name: ATP binding cassette subfamily D member 1
Symbol: ABCD1
Synonyms: lang: en
text: ALDP
lang: en
text: AMN
lang: en
text: adrenoleukodystrophy
GeneType: Name: gene with protein product
Rare disease: Adrenomyeloneuropathy (Orphanet code 139399)
Associated genes:
Name: ATP binding cassette subfamily D member 1
Symbol: ABCD1
Synonyms: lang: en
text: ALDP
lang: en
text: AMN
lang: en
text: adrenoleukodystrophy
GeneType: Name: gene with protein product
Rare disease: Encephalopathy due to prosaposin deficiency (Orphanet code 139406)
Associated genes:
Name: prosaposin
Symbol: PSAP
Synonyms: lang: en
text: precursor of saposins
lang: en
text: saposin-A
lang: en
text: saposin-B
lang: en
text: saposin-C
lang: en
text: saposin-D
lang: en
text: variant Gaucher disease and variant metachromatic leukodystrophy
GeneType: Name: gene with protein product
Rare disease: Alopecia universalis (Orphanet code 701)
Associated genes:
Name: HR lysine demethylase and nuclear receptor corepressor
Symbol: HR
Synonyms: lang: en
text: AU
GeneType: Name: gene with protein product
Rare disease: Autosomal dominant palmoplantar keratoderma and congenital alopecia (Orphanet code 1010)
Associated genes:
Name: gap junction protein alpha 1
Symbol: GJA1
Synonyms: lang: en
text: CX43
lang: en
text: ODD
lang: en
text: ODOD
lang: en
text: SDTY3
lang: en
text: connexin 43
lang: en
text: oculodentodigital dysplasia (syndactyly type III)
GeneType: Name: gene with protein product
Rare disease: 2q37 microdeletion syndrome (Orphanet code 1001)
Associated genes:
Name: histone deacetylase 4
Symbol: HDAC4
Synonyms: lang: en
text: HA6116
lang: en
text: HD4
lang: en
text: HDAC-4
lang: en
text: HDAC-A
lang: en
text: HDACA
lang: en
text: KIAA0288
GeneType: Name: gene with protein product
Rare disease: Allan-Herndon-Dudley syndrome (Orphanet code 59)
Associated genes:
Name: solute carrier family 16 member 2
Symbol: SLC16A2
Synonyms: lang: en
text: DXS128E
lang: en
text: MCT7
lang: en
text: MCT8
lang: en
text: X-linked PEST-containing transporter
lang: en
text: XPCT
lang: en
text: monocarboxylate transporter 8
GeneType: Name: gene with protein product
Rare disease: Borjeson-Forssman-Lehmann syndrome (Orphanet code 127)
Associated genes:
Name: PHD finger protein 6
Symbol: PHF6
Synonyms: lang: en
text: CENP-31
lang: en
text: KIAA1823
lang: en
text: MGC14797
lang: en
text: centromere protein 31
GeneType: Name: gene with protein product
Rare disease: Boomerang dysplasia (Orphanet code 1263)
Associated genes:
Name: filamin B
Symbol: FLNB
Synonyms: lang: en
text: ABP-278
lang: en
text: FH1
lang: en
text: TABP
lang: en
text: TAP
lang: en
text: actin binding protein 278
lang: en
text: beta filamin
GeneType: Name: gene with protein product
Rare disease: Bartsocas-Papas syndrome (Orphanet code 1234)
Associated genes:
Name: receptor interacting serine/threonine kinase 4
Symbol: RIPK4
Synonyms: lang: en
text: ANKK2
lang: en
text: DIK
lang: en
text: PKC-delta-interacting protein kinase
lang: en
text: PKK
lang: en
text: RIP4
lang: en
text: protein kinase C-associated kinase
GeneType: Name: gene with protein product
Rare disease: Barber-Say syndrome (Orphanet code 1231)
Associated genes:
Name: twist family bHLH transcription factor 2
Symbol: TWIST2
Synonyms: lang: en
text: DERMO1
lang: en
text: Dermo-1
lang: en
text: bHLHa39
GeneType: Name: gene with protein product
Rare disease: Congenital intrauterine infection-like syndrome (Orphanet code 1229)
Associated genes:
Name: occludin
Symbol: OCLN
Synonyms: lang: en
text: PPP1R115
lang: en
text: phosphatase 1, regulatory subunit 115
lang: en
text: tight junction protein occludin TM4 minus
GeneType: Name: gene with protein product
Rare disease: Bannayan-Riley-Ruvalcaba syndrome (Orphanet code 109)
Associated genes:
Name: phosphatase and tensin homolog
Symbol: PTEN
Synonyms: lang: en
text: MMAC1
lang: en
text: PTEN1
lang: en
text: Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-specificity protein phosphatase PTEN
lang: en
text: TEP1
lang: en
text: mutated in multiple advanced cancers 1
GeneType: Name: gene with protein product
Rare disease: Behr syndrome (Orphanet code 1239)
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
Rare disease: Congenital contractural arachnodactyly (Orphanet code 115)
Associated genes:
Name: fibrillin 2
Symbol: FBN2
Synonyms: lang: en
text: DA9
lang: en
text: fibrillin 5
GeneType: Name: gene with protein product
Rare disease: Glycogen storage disease due to muscle and heart glycogen synthase deficiency (Orphanet code 137625)
Associated genes:
Name: glycogen synthase 1
Symbol: GYS1
Synonyms: lang: en
text: GSY
GeneType: Name: gene with protein product
Rare disease: Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome (Orphanet code 137608)
Associated genes:
Name: phosphatase and tensin homolog
Symbol: PTEN
Synonyms: lang: en
text: MMAC1
lang: en
text: PTEN1
lang: en
text: Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-specificity protein phosphatase PTEN
lang: en
text: TEP1
lang: en
text: mutated in multiple advanced cancers 1
GeneType: Name: gene with protein product
Rare disease: Branchioskeletogenital syndrome (Orphanet code 1299)
Associated genes:
Name: cadherin 11
Symbol: CDH11
Synonyms: lang: en
text: CAD11
lang: en
text: OB
lang: en
text: OB-Cadherin
GeneType: Name: gene with protein product
Rare disease: Autosomal dominant popliteal pterygium syndrome (Orphanet code 1300)
Associated genes:
Name: interferon regulatory factor 6
Symbol: IRF6
Synonyms: lang: en
text: OFC6
lang: en
text: VWS1
GeneType: Name: gene with protein product
Rare disease: Capillary malformation-arteriovenous malformation (Orphanet code 137667)
Associated genes:
Name: RAS p21 protein activator 1
Symbol: RASA1
Synonyms: lang: en
text: CM-AVM
lang: en
text: GAP
lang: en
text: Ras GTPase-activating protein 1
lang: en
text: capillary malformation-arteriovenous malformation
lang: en
text: p120
lang: en
text: p120 RAS GTPase activating protein
lang: en
text: p120GAP
lang: en
text: p120RASGAP
GeneType: Name: gene with protein product
Name: EPH receptor B4
Symbol: EPHB4
Synonyms: lang: en
text: Tyro11
GeneType: Name: gene with protein product
Rare disease: Overgrowth-macrocephaly-facial dysmorphism syndrome (Orphanet code 137634)
Associated genes:
Name: ring finger protein 135
Symbol: RNF135
Synonyms: lang: en
text: MGC13061
lang: en
text: riplet
GeneType: Name: gene with protein product
Rare disease: Branchio-oculo-facial syndrome (Orphanet code 1297)
Associated genes:
Name: transcription factor AP-2 alpha
Symbol: TFAP2A
Synonyms: lang: en
text: AP-2
lang: en
text: AP-2alpha
GeneType: Name: gene with protein product
Rare disease: Hypomyelinating leukodystrophy-ataxia-hypodontia-hypomyelination syndrome (Orphanet code 137639)
Associated genes:
Name: RNA polymerase III subunit A
Symbol: POLR3A
Synonyms: lang: en
text: C160
lang: en
text: RPC1
lang: en
text: RPC155
lang: en
text: hRPC155
GeneType: Name: gene with protein product
Rare disease: Brachydactyly-arterial hypertension syndrome (Orphanet code 1276)
Associated genes:
Name: phosphodiesterase 3A
Symbol: PDE3A
Synonyms: lang: en
text: CGI-PDE
lang: en
text: cGMP-inhibited 3',5'-cyclic phosphodiesterase A
GeneType: Name: gene with protein product
Rare disease: Brachydactyly-elbow wrist dysplasia syndrome (Orphanet code 1275)
Associated genes:
Name: macroH2A.1 histone
Symbol: MACROH2A1
Synonyms: lang: en
text: macroH2A1.2
GeneType: Name: gene with protein product
Name: paired like homeodomain 1
Symbol: PITX1
Synonyms: lang: en
text: POTX
lang: en
text: PTX1
GeneType: Name: gene with protein product
Rare disease: Bowen-Conradi syndrome (Orphanet code 1270)
Associated genes:
Name: EMG1 N1-specific pseudouridine methyltransferase
Symbol: EMG1
Synonyms: lang: en
text: C2F
lang: en
text: Grcc2f
lang: en
text: NEP1
GeneType: Name: gene with protein product
Rare disease: Legius syndrome (Orphanet code 137605)
Associated genes:
Name: sprouty related EVH1 domain containing 1
Symbol: SPRED1
Synonyms: lang: en
text: FLJ33903
lang: en
text: PPP1R147
lang: en
text: SPRED-1
lang: en
text: protein phosphatase 1, regulatory subunit 147
GeneType: Name: gene with protein product
Rare disease: Ataxia-oculomotor apraxia type 1 (Orphanet code 1168)
Associated genes:
Name: aprataxin
Symbol: APTX
Synonyms: lang: en
text: AOA
lang: en
text: AOA1
lang: en
text: EAOH
lang: en
text: EOAHA
lang: en
text: FLJ20157
GeneType: Name: gene with protein product
Rare disease: Frank-Ter Haar syndrome (Orphanet code 137834)
Associated genes:
Name: SH3 and PX domains 2B
Symbol: SH3PXD2B
Synonyms: lang: en
text: FLJ20831
GeneType: Name: gene with protein product
Rare disease: X-linked intellectual disability-cerebellar hypoplasia syndrome (Orphanet code 137831)
Associated genes:
Name: oligophrenin 1
Symbol: OPHN1
Synonyms: lang: en
text: ARHGAP41
lang: en
text: OPN1
GeneType: Name: gene with protein product
Rare disease: Autosomal recessive cerebelloparenchymal disorder type 3 (Orphanet code 1170)
Associated genes:
Name: peptidase, mitochondrial processing subunit alpha
Symbol: PMPCA
Synonyms: lang: en
text: Alpha-MPP
lang: en
text: KIAA0123
lang: en
text: MAS2
GeneType: Name: gene with protein product
Rare disease: X-linked progressive cerebellar ataxia (Orphanet code 1175)
Associated genes:
Name: gap junction protein beta 1
Symbol: GJB1
Synonyms: lang: en
text: CX32
lang: en
text: Charcot-Marie-Tooth neuropathy, X-linked
lang: en
text: connexin 32
GeneType: Name: gene with protein product
Rare disease: Ataxia-hypogonadism-choroidal dystrophy syndrome (Orphanet code 1180)
Associated genes:
Name: patatin like phospholipase domain containing 6
Symbol: PNPLA6
Synonyms: lang: en
text: NTE
lang: en
text: SPG39
lang: en
text: SWS
lang: en
text: iPLA2delta
lang: en
text: neuropathy target esterase
lang: en
text: sws
GeneType: Name: gene with protein product
Rare disease: Cerebellar ataxia-hypogonadism syndrome (Orphanet code 1173)
Associated genes:
Name: patatin like phospholipase domain containing 6
Symbol: PNPLA6
Synonyms: lang: en
text: NTE
lang: en
text: SPG39
lang: en
text: SWS
lang: en
text: iPLA2delta
lang: en
text: neuropathy target esterase
lang: en
text: sws
GeneType: Name: gene with protein product
Name: ring finger protein 216
Symbol: RNF216
Synonyms: lang: en
text: TRIAD3
lang: en
text: UBCE7IP1
lang: en
text: ZIN
GeneType: Name: gene with protein product
Rare disease: Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 (Orphanet code 137681)
Associated genes:
Name: G elongation factor mitochondrial 1
Symbol: GFM1
Synonyms: lang: en
text: EFGM
lang: en
text: EGF1
lang: en
text: GFM
lang: en
text: mtEF-G1
GeneType: Name: gene with protein product
Rare disease: Histiocytoid cardiomyopathy (Orphanet code 137675)
Associated genes:
Name: mitochondrially encoded cytochrome b
Symbol: MT-CYB
Synonyms: lang: en
text: COB
lang: en
text: CYTB
lang: en
text: UQCR3
GeneType: Name: gene with protein product
Rare disease: Spondyloepiphyseal dysplasia with metatarsal shortening (Orphanet code 137678)
Associated genes:
Name: collagen type II alpha 1 chain
Symbol: COL2A1
Synonyms: lang: en
text: STL1
GeneType: Name: gene with protein product
Rare disease: Aminoacylase 1 deficiency (Orphanet code 137754)
Associated genes:
Name: aminoacylase 1
Symbol: ACY1
GeneType: Name: gene with protein product
Rare disease: Infantile-onset X-linked spinal muscular atrophy (Orphanet code 1145)
Associated genes:
Name: ubiquitin like modifier activating enzyme 1
Symbol: UBA1
Synonyms: lang: en
text: CFAP124
lang: en
text: POC20
lang: en
text: POC20 centriolar protein homolog (Chlamydomonas)
lang: en
text: UBA1, ubiquitin-activating enzyme E1 homolog (yeast)
lang: en
text: UBE1X
GeneType: Name: gene with protein product
Rare disease: Lethal congenital contracture syndrome type 2 (Orphanet code 137776)
Associated genes:
Name: erb-b2 receptor tyrosine kinase 3
Symbol: ERBB3
Synonyms: lang: en
text: HER3
lang: en
text: human epidermal growth factor receptor 3
GeneType: Name: gene with protein product
Rare disease: Kuskokwim syndrome (Orphanet code 1149)
Associated genes:
Name: FKBP prolyl isomerase 10
Symbol: FKBP10
Synonyms: lang: en
text: FKBP6
lang: en
text: FKBP65
lang: en
text: FLJ20683
lang: en
text: FLJ22041
lang: en
text: FLJ23833
lang: en
text: hFKBP65
GeneType: Name: gene with protein product
Rare disease: Progressive pseudorheumatoid arthropathy of childhood (Orphanet code 1159)
Associated genes:
Name: cellular communication network factor 6
Symbol: CCN6
Synonyms: lang: en
text: CCN6
lang: en
text: WISP-3
GeneType: Name: gene with protein product
Rare disease: Lethal congenital contracture syndrome type 3 (Orphanet code 137783)
Associated genes:
Name: phosphatidylinositol-4-phosphate 5-kinase type 1 gamma
Symbol: PIP5K1C
Synonyms: lang: en
text: KIAA0589
lang: en
text: LCCS3
lang: en
text: PIP5Kgamma
GeneType: Name: gene with protein product
Name: myosin binding protein C1
Symbol: MYBPC1
Synonyms: lang: en
text: slow skeletal-type muscle myosin-binding-protein C
lang: en
text: ssMyBP-C
GeneType: Name: gene with protein product
Rare disease: Autosomal dominant optic atrophy plus syndrome (Orphanet code 1215)
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
Rare disease: Autosomal dominant congenital benign spinal muscular atrophy (Orphanet code 1216)
Associated genes:
Name: transient receptor potential cation channel subfamily V member 4
Symbol: TRPV4
Synonyms: lang: en
text: CMT2C
lang: en
text: OTRPC4
lang: en
text: TRP12
lang: en
text: VR-OAC
lang: en
text: VRL-2
lang: en
text: VROAC
lang: en
text: osmosensitive transient receptor potential channel 4
GeneType: Name: gene with protein product
Rare disease: Baller-Gerold syndrome (Orphanet code 1225)
Associated genes:
Name: RecQ like helicase 4
Symbol: RECQL4
Synonyms: lang: en
text: RecQ4
GeneType: Name: gene with protein product
Rare disease: Bamforth-Lazarus syndrome (Orphanet code 1226)
Associated genes:
Name: forkhead box E1
Symbol: FOXE1
Synonyms: lang: en
text: HFKH4
lang: en
text: TTF-2
lang: en
text: thyroid transcription factor 2
GeneType: Name: gene with protein product
Rare disease: Auriculocondylar syndrome (Orphanet code 137888)
Associated genes:
Name: G protein subunit alpha i3
Symbol: GNAI3
Synonyms: lang: en
text: 87U6
lang: en
text: Guanine nucleotide-binding protein G(k) subunit alpha
GeneType: Name: gene with protein product
Name: phospholipase C beta 4
Symbol: PLCB4
GeneType: Name: gene with protein product
Name: endothelin 1
Symbol: EDN1
Synonyms: lang: en
text: ET1
GeneType: Name: gene with protein product
Rare disease: Male infertility due to large-headed multiflagellar polyploid spermatozoa (Orphanet code 137893)
Associated genes:
Name: aurora kinase C
Symbol: AURKC
Synonyms: lang: en
text: ARK3
lang: en
text: AurC
GeneType: Name: gene with protein product
Name: dynein heavy chain domain 1
Symbol: DNHD1
Synonyms: lang: en
text: DKFZp686J0796
lang: en
text: FLJ32752
lang: en
text: FLJ35709
lang: en
text: FLJ46184
GeneType: Name: gene with protein product
Name: cilia and flagella associated protein 47
Symbol: CFAP47
Synonyms: lang: en
text: FLJ36601
lang: en
text: MGC34831
lang: en
text: RP13-11B7.1
GeneType: Name: gene with protein product
Name: dynein axonemal heavy chain 10
Symbol: DNAH10
Synonyms: lang: en
text: FLJ43808
GeneType: Name: gene with protein product
Name: A-kinase anchoring protein 3
Symbol: AKAP3
Synonyms: lang: en
text: AKAP110
lang: en
text: CT82
lang: en
text: FSP95
lang: en
text: Fibrous Sheath Protein of 95 kDa
lang: en
text: SOB1
lang: en
text: cancer/testis antigen 82
GeneType: Name: gene with protein product
Name: cilia and flagella associated protein 61
Symbol: CFAP61
Synonyms: lang: en
text: CaM-IP3
lang: en
text: DKFZP434K156
lang: en
text: dJ1002M8.3
lang: en
text: hypothetical protein LOC26074
GeneType: Name: gene with protein product
Name: armadillo repeat containing 12
Symbol: ARMC12
Synonyms: lang: en
text: FLJ25390
GeneType: Name: gene with protein product
Name: intraflagellar transport 74
Symbol: IFT74
Synonyms: lang: en
text: CMG-1
lang: en
text: CMG1
lang: en
text: FLJ22621
lang: en
text: capillary morphogenesis protein 1
GeneType: Name: gene with protein product
Rare disease: Infantile-onset spinocerebellar ataxia (Orphanet code 1186)
Associated genes:
Name: twinkle mtDNA helicase
Symbol: TWNK
Synonyms: lang: en
text: FLJ21832
lang: en
text: PEO
lang: en
text: PEO1
lang: en
text: T7 helicase-related protein with intramitochondrial nucleoid localization
lang: en
text: TWINKLE
lang: en
text: TWINL
GeneType: Name: gene with protein product
Rare disease: Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome (Orphanet code 137898)
Associated genes:
Name: aspartyl-tRNA synthetase 2, mitochondrial
Symbol: DARS2
Synonyms: lang: en
text: Aspartate tRNA ligase 2, mitochondrial
lang: en
text: FLJ10514
lang: en
text: aspartate tRNA ligase 2, mitochondrial
lang: en
text: mtAspRS
GeneType: Name: gene with protein product
Rare disease: Lethal ataxia with deafness and optic atrophy (Orphanet code 1187)
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: Atelosteogenesis type I (Orphanet code 1190)
Associated genes:
Name: filamin B
Symbol: FLNB
Synonyms: lang: en
text: ABP-278
lang: en
text: FH1
lang: en
text: TABP
lang: en
text: TAP
lang: en
text: actin binding protein 278
lang: en
text: beta filamin
GeneType: Name: gene with protein product
Rare disease: Hypotonia with lactic acidemia and hyperammonemia (Orphanet code 137908)
Associated genes:
Name: mitochondrial ribosomal protein S22
Symbol: MRPS22
Synonyms: lang: en
text: C3orf5
lang: en
text: GIBT
lang: en
text: GK002
lang: en
text: MRP-S22
lang: en
text: mS22
GeneType: Name: gene with protein product
Rare disease: Burn-McKeown syndrome (Orphanet code 1200)
Associated genes:
Name: RNA polymerase I subunit A
Symbol: POLR1A
Synonyms: lang: en
text: DKFZP586M0122
lang: en
text: FLJ21915
lang: en
text: RPA1
lang: en
text: RPA190
lang: en
text: RPO1-4
GeneType: Name: gene with protein product
Name: thioredoxin like 4A
Symbol: TXNL4A
Synonyms: lang: en
text: DIB1
lang: en
text: DIM1
lang: en
text: HsT161
lang: en
text: SNRNP15
lang: en
text: U5-15kD
lang: en
text: similar to S. pombe dim1+
GeneType: Name: gene with protein product
Rare disease: Tessier number 4 facial cleft (Orphanet code 141258)
Associated genes:
Name: sperm antigen with calponin homology and coiled-coil domains 1 like
Symbol: SPECC1L
Synonyms: lang: en
text: CYTSA
lang: en
text: KIAA0376
lang: en
text: cytokinesis and spindle organization A
GeneType: Name: gene with protein product
Rare disease: CODAS syndrome (Orphanet code 1458)
Associated genes:
Name: lon peptidase 1, mitochondrial
Symbol: LONP1
Synonyms: lang: en
text: LonHS
lang: en
text: Mitochondrial ATP-dependent protease Lon
lang: en
text: PIM1
lang: en
text: hLON
GeneType: Name: gene with protein product