TaoMedAI/RareMedData huggingface dataset:
Rare disease: Polyglucosan body myopathy type 2 (Orphanet code 456369)
Associated genes:
Name: glycogenin 1
Symbol: GYG1
Synonyms: lang: en
text: glycogenin glucosyltransferase
GeneType: Name: gene with protein product
Rare disease: Autosomal dominant mitochondrial myopathy with exercise intolerance (Orphanet code 457050)
Associated genes:
Name: coiled-coil-helix-coiled-coil-helix domain containing 10
Symbol: CHCHD10
Synonyms: lang: en
text: MIX17 homolog A
lang: en
text: MIX17A
lang: en
text: N27C7-4
GeneType: Name: gene with protein product
Rare disease: Erythrokeratodermia variabilis (Orphanet code 317)
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
Name: gap junction protein beta 4
Symbol: GJB4
Synonyms: lang: en
text: CX30.3
lang: en
text: connexin 30.3
GeneType: Name: gene with protein product
Name: gap junction protein beta 3
Symbol: GJB3
Synonyms: lang: en
text: CX31
lang: en
text: connexin 31
GeneType: Name: gene with protein product
Name: 3-ketodihydrosphingosine reductase
Symbol: KDSR
Synonyms: lang: en
text: 3-dehydrosphinganine reductase
lang: en
text: DHSR
lang: en
text: SDR35C1
lang: en
text: short chain dehydrogenase/reductase family 35C, member 1
GeneType: Name: gene with protein product
Rare disease: Short stature due to growth hormone qualitative anomaly (Orphanet code 629)
Associated genes:
Name: growth hormone 1
Symbol: GH1
Synonyms: lang: en
text: GH
lang: en
text: GH-N
lang: en
text: GHN
lang: en
text: hGH-N
lang: en
text: pituitary growth hormone
lang: en
text: somatotropin
GeneType: Name: gene with protein product
Rare disease: Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia (Orphanet code 632)
Associated genes:
Name: Bruton tyrosine kinase
Symbol: BTK
Synonyms: lang: en
text: ATK
lang: en
text: Bruton's tyrosine kinase
lang: en
text: PSCTK1
lang: en
text: XLA
GeneType: Name: gene with protein product
Name: E74 like ETS transcription factor 4
Symbol: ELF4
Synonyms: lang: en
text: ELFR
lang: en
text: MEF
GeneType: Name: gene with protein product
Rare disease: Autosomal recessive hypohidrotic ectodermal dysplasia (Orphanet code 248)
Associated genes:
Name: ectodysplasin A receptor
Symbol: EDAR
Synonyms: lang: en
text: ED1R
lang: en
text: ED5
lang: en
text: EDA1R
lang: en
text: EDA3
lang: en
text: Edar
lang: en
text: Tumor necrosis factor receptor superfamily member EDAR
lang: en
text: ectodysplasin A1 receptor
GeneType: Name: gene with protein product
Name: EDAR associated via death domain
Symbol: EDARADD
Synonyms: lang: en
text: CR
lang: en
text: Ectodysplasin-A receptor-associated adapter protein
lang: en
text: crinkled
GeneType: Name: gene with protein product
Name: Wnt family member 10A
Symbol: WNT10A
GeneType: Name: gene with protein product
Name: cystatin B
Symbol: CSTB
Synonyms: lang: en
text: CST6
lang: en
text: Epilepsy, progressive myoclonic 1
lang: en
text: PME
lang: en
text: stefin B
GeneType: Name: gene with protein product
Rare disease: Autosomal dominant hypohidrotic ectodermal dysplasia (Orphanet code 1810)
Associated genes:
Name: ectodysplasin A receptor
Symbol: EDAR
Synonyms: lang: en
text: ED1R
lang: en
text: ED5
lang: en
text: EDA1R
lang: en
text: EDA3
lang: en
text: Edar
lang: en
text: Tumor necrosis factor receptor superfamily member EDAR
lang: en
text: ectodysplasin A1 receptor
GeneType: Name: gene with protein product
Name: EDAR associated via death domain
Symbol: EDARADD
Synonyms: lang: en
text: CR
lang: en
text: Ectodysplasin-A receptor-associated adapter protein
lang: en
text: crinkled
GeneType: Name: gene with protein product
Name: TNF receptor associated factor 6
Symbol: TRAF6
Synonyms: lang: en
text: RING finger protein 85
lang: en
text: RNF85
GeneType: Name: gene with protein product
Name: keratinocyte differentiation factor 1
Symbol: KDF1
Synonyms: lang: en
text: FLJ34633
lang: en
text: RP11-344H11.3
GeneType: Name: gene with protein product
Rare disease: Vogt-Koyanagi-Harada disease (Orphanet code 3437)
Associated genes:
Name: Fas cell surface death receptor
Symbol: FAS
Synonyms: lang: en
text: APO-1
lang: en
text: CD95
lang: en
text: TNF receptor superfamily member 6
GeneType: Name: gene with protein product
Name: protein tyrosine phosphatase non-receptor type 22
Symbol: PTPN22
Synonyms: lang: en
text: Lyp
lang: en
text: Lyp1
lang: en
text: Lyp2
GeneType: Name: gene with protein product
Rare disease: Idiopathic pulmonary fibrosis (Orphanet code 2032)
Associated genes:
Name: surfactant protein A1
Symbol: SFTPA1
Synonyms: lang: en
text: COLEC4
lang: en
text: SP-A
lang: en
text: SP-A1
lang: en
text: surfactant, pulmonary-associated protein A1A
GeneType: Name: gene with protein product
Name: desmoplakin
Symbol: DSP
Synonyms: lang: en
text: DPI
lang: en
text: DPII
lang: en
text: KPPS2
lang: en
text: PPKS2
GeneType: Name: gene with protein product
Name: telomerase reverse transcriptase
Symbol: TERT
Synonyms: lang: en
text: EST2
lang: en
text: TCS1
lang: en
text: TP2
lang: en
text: TRT
lang: en
text: hEST2
GeneType: Name: gene with protein product
Name: telomerase RNA component
Symbol: TERC
Synonyms: lang: en
text: SCARNA19
lang: en
text: TER
lang: en
text: TR
lang: en
text: TRC3
lang: en
text: hTR
lang: en
text: small Cajal body-specific RNA 19
GeneType: Name: Non-coding RNA
Name: mucin 5B, oligomeric mucus/gel-forming
Symbol: MUC5B
Synonyms: lang: en
text: MG1
lang: en
text: MUC-5B
lang: en
text: mucin MG1
GeneType: Name: gene with protein product
Name: surfactant protein A2
Symbol: SFTPA2
Synonyms: lang: en
text: COLEC5
lang: en
text: SP-A2
lang: en
text: surfactant, pulmonary-associated protein A2A
GeneType: Name: gene with protein product
Name: regulator of telomere elongation helicase 1
Symbol: RTEL1
Synonyms: lang: en
text: DKFZP434C013
lang: en
text: KIAA1088
lang: en
text: NHL
lang: en
text: RTEL
lang: en
text: bK3184A7.3
GeneType: Name: gene with protein product
Name: family with sequence similarity 13 member A
Symbol: FAM13A
Synonyms: lang: en
text: ARHGAP48
lang: en
text: KIAA0914
GeneType: Name: gene with protein product
Name: STN1 subunit of CST complex
Symbol: STN1
Synonyms: lang: en
text: FLJ22559
lang: en
text: bA541N10.2
GeneType: Name: gene with protein product
Name: ATPase phospholipid transporting 11A
Symbol: ATP11A
Synonyms: lang: en
text: ATPIH
lang: en
text: ATPIS
lang: en
text: KIAA1021
lang: en
text: Phospholipid-translocating ATPase
lang: en
text: Potential phospholipid-transporting ATPase IH
lang: en
text: phospholipid-translocating ATPase
lang: en
text: potential phospholipid-transporting ATPase IH
GeneType: Name: gene with protein product
Name: dipeptidyl peptidase 9
Symbol: DPP9
GeneType: Name: gene with protein product
Name: poly(A)-specific ribonuclease
Symbol: PARN
Synonyms: lang: en
text: DAN
lang: en
text: deadenylation nuclease
GeneType: Name: gene with protein product
Name: surfactant protein C
Symbol: SFTPC
Synonyms: lang: en
text: BRICD6
lang: en
text: BRICHOS domain containing 6
lang: en
text: PSP-C
lang: en
text: SMDP2
lang: en
text: SP-C
GeneType: Name: gene with protein product
Name: ATP binding cassette subfamily A member 3
Symbol: ABCA3
Synonyms: lang: en
text: ABC-C
lang: en
text: EST111653
lang: en
text: LBM180
GeneType: Name: gene with protein product
Rare disease: Occipital horn syndrome (Orphanet code 198)
Associated genes:
Name: ATPase copper transporting alpha
Symbol: ATP7A
Synonyms: lang: en
text: copper pump 1
lang: en
text: copper-transporting ATPase 1
GeneType: Name: gene with protein product
Rare disease: Familial exudative vitreoretinopathy (Orphanet code 891)
Associated genes:
Name: catenin beta 1
Symbol: CTNNB1
Synonyms: lang: en
text: armadillo
lang: en
text: beta-catenin
GeneType: Name: gene with protein product
Name: frizzled class receptor 4
Symbol: FZD4
Synonyms: lang: en
text: CD344
GeneType: Name: gene with protein product
Name: LDL receptor related protein 5
Symbol: LRP5
Synonyms: lang: en
text: BMND1
lang: en
text: EVR4
lang: en
text: HBM
lang: en
text: LR3
lang: en
text: OPS
lang: en
text: OPTA1
lang: en
text: VBCH2
GeneType: Name: gene with protein product
Name: norrin cystine knot growth factor NDP
Symbol: NDP
Synonyms: lang: en
text: norrin
GeneType: Name: gene with protein product
Name: tetraspanin 12
Symbol: TSPAN12
Synonyms: lang: en
text: NET-2
GeneType: Name: gene with protein product
Name: zinc finger protein 408
Symbol: ZNF408
Synonyms: lang: en
text: FLJ12827
GeneType: Name: gene with protein product
Rare disease: Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome (Orphanet code 466688)
Associated genes:
Name: FERM domain containing 4A
Symbol: FRMD4A
Synonyms: lang: en
text: FLJ10210
lang: en
text: KIAA1294
lang: en
text: bA295P9.4
GeneType: Name: gene with protein product
Rare disease: Exercise-induced malignant hyperthermia (Orphanet code 466650)
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
Rare disease: SMARCA4-deficient sarcoma of thorax (Orphanet code 466962)
Associated genes:
Name: SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4
Symbol: SMARCA4
Synonyms: lang: en
text: ATP-dependent helicase SMARCA4
lang: en
text: BAF190
lang: en
text: BRG1
lang: en
text: BRM/SWI2-related gene 1
lang: en
text: FLJ39786
lang: en
text: SNF2
lang: en
text: SNF2-BETA
lang: en
text: SNF2-like 4
lang: en
text: SNF2LB
lang: en
text: SWI2
lang: en
text: brahma protein-like 1
lang: en
text: global transcription activator homologous sequence
lang: en
text: hSNF2b
lang: en
text: homeotic gene regulator
lang: en
text: mitotic growth and transcription activator
lang: en
text: nuclear protein GRB1
lang: en
text: sucrose nonfermenting-like 4
GeneType: Name: gene with protein product
Rare disease: Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation (Orphanet code 466950)
Associated genes:
Name: WW domain containing adaptor with coiled-coil
Symbol: WAC
Synonyms: lang: en
text: BM-016
lang: en
text: FLJ31290
lang: en
text: MGC10753
lang: en
text: PRO1741
lang: en
text: Wwp4
GeneType: Name: gene with protein product
Rare disease: Seizures-scoliosis-macrocephaly syndrome (Orphanet code 466926)
Associated genes:
Name: exostosin glycosyltransferase 2
Symbol: EXT2
Synonyms: lang: en
text: Glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase
lang: en
text: N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase
lang: en
text: SOTV
GeneType: Name: gene with protein product
Rare disease: VPS11-related autosomal recessive hypomyelinating leukodystrophy (Orphanet code 466934)
Associated genes:
Name: VPS11 core subunit of CORVET and HOPS complexes
Symbol: VPS11
Synonyms: lang: en
text: PEP5
lang: en
text: RNF108
GeneType: Name: gene with protein product
Rare disease: Childhood-onset progressive contractures-limb-girdle weakness-muscle dystrophy syndrome (Orphanet code 466921)
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
Rare disease: Autosomal dominant thrombocytopenia with platelet secretion defect (Orphanet code 466806)
Associated genes:
Name: schlafen family member 14
Symbol: SLFN14
GeneType: Name: gene with protein product
Rare disease: Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome (Orphanet code 466794)
Associated genes:
Name: SCY1 like pseudokinase 1
Symbol: SCYL1
Synonyms: lang: en
text: GKLP
lang: en
text: HT019
lang: en
text: MGC78454
lang: en
text: NKTL
lang: en
text: P105
lang: en
text: TAPK
lang: en
text: TEIF
lang: en
text: TRAP
lang: en
text: telomerase regulation-associated protein
lang: en
text: telomerase transcriptional elements-interacting factor
lang: en
text: teratoma-associated tyrosine kinase
GeneType: Name: gene with protein product
Rare disease: Macrocephaly-intellectual disability-left ventricular non compaction syndrome (Orphanet code 466791)
Associated genes:
Name: non-POU domain containing octamer binding
Symbol: NONO
Synonyms: lang: en
text: NMT55
lang: en
text: NRB54
lang: en
text: Nuclear RNA-binding protein, 54-kD
lang: en
text: P54
lang: en
text: P54NRB
lang: en
text: PPP1R114
lang: en
text: non-Pou domain-containing octamer (ATGCAAAT) binding protein
lang: en
text: protein phosphatase 1, regulatory subunit 114
GeneType: Name: gene with protein product
Rare disease: Neonatal severe cardiopulmonary failure due to mitochondrial methylation defect (Orphanet code 466784)
Associated genes:
Name: solute carrier family 25 member 26
Symbol: SLC25A26
Synonyms: lang: en
text: S-adenosylmethionine mitochondrial carrier protein
lang: en
text: SAMC
GeneType: Name: gene with protein product
Rare disease: Autosomal recessive Charcot-Marie-Tooth disease type 2X (Orphanet code 466775)
Associated genes:
Name: SPG11 vesicle trafficking associated, spatacsin
Symbol: SPG11
Synonyms: lang: en
text: FLJ21439
lang: en
text: spatacsin
GeneType: Name: gene with protein product
Rare disease: Autosomal dominant Charcot-Marie-Tooth disease type 2Z (Orphanet code 466768)
Associated genes:
Name: MORC family CW-type zinc finger 2
Symbol: MORC2
Synonyms: lang: en
text: AC004542.C22.1
lang: en
text: KIAA0852
lang: en
text: ZCW3
GeneType: Name: gene with protein product
Rare disease: Familial patent arterial duct (Orphanet code 466729)
Associated genes:
Name: transcription factor AP-2 beta
Symbol: TFAP2B
Synonyms: lang: en
text: AP-2beta
lang: en
text: AP2-B
GeneType: Name: gene with protein product
Name: PR/SET domain 6
Symbol: PRDM6
Synonyms: lang: en
text: KMT8C
lang: en
text: PRISM
GeneType: Name: gene with protein product
Rare disease: Autosomal recessive spastic paraplegia type 77 (Orphanet code 466722)
Associated genes:
Name: phenylalanyl-tRNA synthetase 2, mitochondrial
Symbol: FARS2
Synonyms: lang: en
text: Phenylalanine tRNA ligase 2, mitochondrial
lang: en
text: dJ236A3.1
lang: en
text: mtPheRS
lang: en
text: phenylalanine tRNA ligase 2, mitochondrial
GeneType: Name: gene with protein product
Rare disease: Martinique crinkled retinal pigment epitheliopathy (Orphanet code 466718)
Associated genes:
Name: MAPK activated protein kinase 3
Symbol: MAPKAPK3
Synonyms: lang: en
text: 3PK
lang: en
text: 3pK
lang: en
text: MAPKAP3
lang: en
text: MK-3
lang: en
text: MK3
GeneType: Name: gene with protein product
Rare disease: TMEM199-CDG (Orphanet code 466703)
Associated genes:
Name: transmembrane protein 199
Symbol: TMEM199
Synonyms: lang: en
text: MGC45714
lang: en
text: VMA12
lang: en
text: VPH2
GeneType: Name: gene with protein product
Rare disease: Fetal encasement syndrome (Orphanet code 465824)
Associated genes:
Name: component of inhibitor of nuclear factor kappa B kinase complex
Symbol: CHUK
Synonyms: lang: en
text: I-kappa-B kinase
lang: en
text: IKK-alpha
lang: en
text: IKK1
lang: en
text: IKKA
lang: en
text: IkBKA
lang: en
text: NFKBIKA
lang: en
text: inhibitor of nuclear factor kappa-B kinase subunit alpha
GeneType: Name: gene with protein product
Rare disease: Class I glucose-6-phosphate dehydrogenase deficiency (Orphanet code 466026)
Associated genes:
Name: glucose-6-phosphate dehydrogenase
Symbol: G6PD
Synonyms: lang: en
text: G6PD1
GeneType: Name: gene with protein product
Rare disease: Intellectual disability-epilepsy-extrapyramidal syndrome (Orphanet code 468620)
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
Rare disease: Microcephalic cortical malformations-short stature due to RTTN deficiency (Orphanet code 468631)
Associated genes:
Name: rotatin
Symbol: RTTN
Synonyms: lang: en
text: DKFZP434G145
GeneType: Name: gene with protein product
Rare disease: Tubulinopathy-associated dysgyria (Orphanet code 467166)
Associated genes:
Name: tubulin alpha 1a
Symbol: TUBA1A
Synonyms: lang: en
text: B-ALPHA-1
lang: en
text: FLJ25113
lang: en
text: TUBA3
lang: en
text: Tubulin, alpha, brain-specific
lang: en
text: tubulin, alpha, brain-specific
GeneType: Name: gene with protein product
Name: tubulin beta 2B class IIb
Symbol: TUBB2B
Synonyms: lang: en
text: DKFZp566F223
lang: en
text: MGC8685
lang: en
text: bA506K6.1
lang: en
text: class IIb beta-tubulin
GeneType: Name: gene with protein product
Name: tubulin beta 3 class III
Symbol: TUBB3
Synonyms: lang: en
text: CFEOM3
lang: en
text: CFEOM3A
lang: en
text: beta-4
lang: en
text: class III beta-tubulin
GeneType: Name: gene with protein product
Rare disease: Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome (Orphanet code 467176)
Associated genes:
Name: coiled-coil domain containing 174
Symbol: CCDC174
Synonyms: lang: en
text: FLJ33839
lang: en
text: ctr1
GeneType: Name: gene with protein product
Rare disease: Cryptogenic multifocal ulcerous stenosing enteritis (Orphanet code 468635)
Associated genes:
Name: phospholipase A2 group IVA
Symbol: PLA2G4A
Synonyms: lang: en
text: cPLA2-alpha
GeneType: Name: gene with protein product
Rare disease: Chronic enteropathy associated with SLCO2A1 gene (Orphanet code 468641)
Associated genes:
Name: solute carrier organic anion transporter family member 2A1
Symbol: SLCO2A1
Synonyms: lang: en
text: OATP2A1
lang: en
text: PGT
lang: en
text: prostaglandin transporter
GeneType: Name: gene with protein product
Rare disease: Autosomal recessive spastic paraplegia type 74 (Orphanet code 468661)
Associated genes:
Name: iron-sulfur cluster assembly factor IBA57
Symbol: IBA57
Synonyms: lang: en
text: FLJ12734
lang: en
text: iron-sulfur cluster assembly factor for biotin synthase- and aconitase-like mitochondrial proteins, with a mass of 57kDa
GeneType: Name: gene with protein product
Rare disease: Isolated generalized anhidrosis with normal sweat glands (Orphanet code 468666)
Associated genes:
Name: inositol 1,4,5-trisphosphate receptor type 2
Symbol: ITPR2
Synonyms: lang: en
text: CFAP48
lang: en
text: IP3R2
lang: en
text: cilia and flagella associated protein 48
GeneType: Name: gene with protein product
Rare disease: White-Sutton syndrome (Orphanet code 468678)
Associated genes:
Name: pogo transposable element derived with ZNF domain
Symbol: POGZ
Synonyms: lang: en
text: KIAA0461
lang: en
text: ZNF280E
lang: en
text: ZNF635
lang: en
text: ZNF635m
lang: en
text: putative protein product of Nbla00003
lang: en
text: zinc finger protein 280E
GeneType: Name: gene with protein product
Rare disease: CCDC115-CDG (Orphanet code 468684)
Associated genes:
Name: coiled-coil domain containing 115
Symbol: CCDC115
Synonyms: lang: en
text: FLJ30131
lang: en
text: MGC12981
lang: en
text: ccp1
GeneType: Name: gene with protein product
Rare disease: Colobomatous macrophthalmia-microcornea syndrome (Orphanet code 468672)
Associated genes:
Name: cysteine rich transmembrane BMP regulator 1
Symbol: CRIM1
GeneType: Name: gene with protein product
Rare disease: Severe primary trimethylaminuria (Orphanet code 468726)
Associated genes:
Name: flavin containing dimethylaniline monoxygenase 3
Symbol: FMO3
Synonyms: lang: en
text: Dimethylaniline monooxygenase [N-oxide-forming] 3
lang: en
text: FMOII
GeneType: Name: gene with protein product
Rare disease: SLC39A8-CDG (Orphanet code 468699)
Associated genes:
Name: solute carrier family 39 member 8
Symbol: SLC39A8
Synonyms: lang: en
text: BCG-induced integral membrane protein in monocyte clone 103
lang: en
text: BIGM103
lang: en
text: Metal cation symporter ZIP8
lang: en
text: ZIP-8
lang: en
text: ZIP8
lang: en
text: ZRT/IRT-like protein 8
lang: en
text: Zinc transporter ZIP8
GeneType: Name: gene with protein product
Rare disease: Rhizomelic chondrodysplasia punctata type 5 (Orphanet code 468717)
Associated genes:
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
Rare disease: Autosomal recessive spastic paraplegia type 62 (Orphanet code 401785)
Associated genes:
Name: ER lipid raft associated 1
Symbol: ERLIN1
Synonyms: lang: en
text: Band_7 23-211 Keo4 (Interim) similar to C.elegans protein C42C1.9
lang: en
text: Erlin-1
lang: en
text: KE04
lang: en
text: SPG62
GeneType: Name: gene with protein product
Rare disease: Autosomal recessive spastic paraplegia type 61 (Orphanet code 401780)
Associated genes:
Name: ADP ribosylation factor like GTPase 6 interacting protein 1
Symbol: ARL6IP1
Synonyms: lang: en
text: AIP1
lang: en
text: ARMER
lang: en
text: KIAA0069
lang: en
text: SPG61
GeneType: Name: gene with protein product
Rare disease: Autosomal recessive spastic paraplegia type 60 (Orphanet code 401800)
Associated genes:
Name: WD repeat domain 48
Symbol: WDR48
Synonyms: lang: en
text: Bun62
lang: en
text: KIAA1449
lang: en
text: P80
lang: en
text: SPG60
GeneType: Name: gene with protein product
Rare disease: Autosomal recessive spastic paraplegia type 59 (Orphanet code 401795)
Associated genes:
Name: ubiquitin specific peptidase 8
Symbol: USP8
Synonyms: lang: en
text: HumORF8
lang: en
text: KIAA0055
lang: en
text: SPG59
lang: en
text: UBPY
lang: en
text: Ubiquitin carboxyl-terminal hydrolase 8
lang: en
text: Ubiquitin isopeptidase Y
GeneType: Name: gene with protein product
Rare disease: Proximal myopathy with extrapyramidal signs (Orphanet code 401768)
Associated genes:
Name: mitochondrial calcium uptake 1
Symbol: MICU1
Synonyms: lang: en
text: CALC
lang: en
text: EFHA3
lang: en
text: FLJ12684
GeneType: Name: gene with protein product
Rare disease: Pancytopenia-developmental delay syndrome (Orphanet code 401764)
Associated genes:
Name: ERCC excision repair 6 like 2
Symbol: ERCC6L2
Synonyms: lang: en
text: FLJ37706
lang: en
text: HEBO
lang: en
text: RAD26L
GeneType: Name: gene with protein product
Rare disease: Optic atrophy-intellectual disability syndrome (Orphanet code 401777)
Associated genes:
Name: nuclear receptor subfamily 2 group F member 1
Symbol: NR2F1
Synonyms: lang: en
text: COUP-TFI
lang: en
text: COUPTF1
lang: en
text: EAR-3
lang: en
text: SVP44
lang: en
text: TCFCOUP1
GeneType: Name: gene with protein product
Rare disease: Autosomal recessive spastic paraplegia type 69 (Orphanet code 401830)
Associated genes:
Name: RAB3 GTPase activating non-catalytic protein subunit 2
Symbol: RAB3GAP2
Synonyms: lang: en
text: DKFZP434D245
lang: en
text: KIAA0839
lang: en
text: RAB3-GAP150
lang: en
text: SPG69
GeneType: Name: gene with protein product
Rare disease: Autosomal recessive spastic paraplegia type 70 (Orphanet code 401835)
Associated genes:
Name: methionyl-tRNA synthetase 1
Symbol: MARS1
Synonyms: lang: en
text: CMT2U
lang: en
text: MetRS
lang: en
text: Methionine--tRNA ligase, cytoplasmic
lang: en
text: SPG70
lang: en
text: methionine tRNA ligase 1, cytoplasmic
GeneType: Name: gene with protein product
Rare disease: Autosomal recessive spastic paraplegia type 71 (Orphanet code 401840)
Associated genes:
Name: zinc finger RNA binding protein
Symbol: ZFR
Synonyms: lang: en
text: SPG71
lang: en
text: ZFR1
GeneType: Name: gene with protein product
Rare disease: Autosomal recessive spastic paraplegia type 63 (Orphanet code 401805)
Associated genes:
Name: adenosine monophosphate deaminase 2
Symbol: AMPD2
Synonyms: lang: en
text: AMPD isoform L
lang: en
text: SPG63
GeneType: Name: gene with protein product
Rare disease: Autosomal recessive spastic paraplegia type 64 (Orphanet code 401810)
Associated genes:
Name: ectonucleoside triphosphate diphosphohydrolase 1
Symbol: ENTPD1
Synonyms: lang: en
text: ATPDase
lang: en
text: NTPDase-1
lang: en
text: SPG64
GeneType: Name: gene with protein product
Rare disease: Autosomal recessive spastic paraplegia type 66 (Orphanet code 401815)
Associated genes:
Name: arylsulfatase family member I
Symbol: ARSI
Synonyms: lang: en
text: FLJ16069
lang: en
text: SPG66
GeneType: Name: gene with protein product