TaoMedAI/RareMedData huggingface dataset:
Rare disease: Niemann-Pick disease type C, severe perinatal form (Orphanet code 216972)
Associated genes:
Name: NPC intracellular cholesterol transporter 1
Symbol: NPC1
Synonyms: lang: en
text: SLC65A1
GeneType: Name: gene with protein product
Name: NPC intracellular cholesterol transporter 2
Symbol: NPC2
Synonyms: lang: en
text: EDDM1
lang: en
text: HE1
lang: en
text: NP-C2
lang: en
text: epididymal protein 1
GeneType: Name: gene with protein product
Rare disease: Niemann-Pick disease type C, late infantile neurologic onset (Orphanet code 216978)
Associated genes:
Name: NPC intracellular cholesterol transporter 1
Symbol: NPC1
Synonyms: lang: en
text: SLC65A1
GeneType: Name: gene with protein product
Name: NPC intracellular cholesterol transporter 2
Symbol: NPC2
Synonyms: lang: en
text: EDDM1
lang: en
text: HE1
lang: en
text: NP-C2
lang: en
text: epididymal protein 1
GeneType: Name: gene with protein product
Rare disease: Familial glucocorticoid deficiency (Orphanet code 361)
Associated genes:
Name: steroidogenic acute regulatory protein
Symbol: STAR
Synonyms: lang: en
text: STARD1
lang: en
text: StAR
lang: en
text: StAR related lipid transfer (START) domain containing 1
GeneType: Name: gene with protein product
Name: melanocortin 2 receptor
Symbol: MC2R
Synonyms: lang: en
text: ACTHR
lang: en
text: adrenocorticotropic hormone receptor
GeneType: Name: gene with protein product
Name: melanocortin 2 receptor accessory protein
Symbol: MRAP
Synonyms: lang: en
text: B27
lang: en
text: FALP
lang: en
text: MRAP1
GeneType: Name: gene with protein product
Name: thioredoxin reductase 2
Symbol: TXNRD2
Synonyms: lang: en
text: SELZ
lang: en
text: Selenoprotein Z
lang: en
text: TR
lang: en
text: TR3
lang: en
text: TRXR2
lang: en
text: TXNR2
lang: en
text: Thioredoxin reductase beta
lang: en
text: selenoprotein Z
lang: en
text: thioredoxin reductase beta
GeneType: Name: gene with protein product
Name: nicotinamide nucleotide transhydrogenase
Symbol: NNT
GeneType: Name: gene with protein product
Rare disease: Niemann-Pick disease type C, severe early infantile neurologic onset (Orphanet code 216975)
Associated genes:
Name: NPC intracellular cholesterol transporter 1
Symbol: NPC1
Synonyms: lang: en
text: SLC65A1
GeneType: Name: gene with protein product
Name: NPC intracellular cholesterol transporter 2
Symbol: NPC2
Synonyms: lang: en
text: EDDM1
lang: en
text: HE1
lang: en
text: NP-C2
lang: en
text: epididymal protein 1
GeneType: Name: gene with protein product
Rare disease: Niemann-Pick disease type C, adult neurologic onset (Orphanet code 216986)
Associated genes:
Name: NPC intracellular cholesterol transporter 1
Symbol: NPC1
Synonyms: lang: en
text: SLC65A1
GeneType: Name: gene with protein product
Name: NPC intracellular cholesterol transporter 2
Symbol: NPC2
Synonyms: lang: en
text: EDDM1
lang: en
text: HE1
lang: en
text: NP-C2
lang: en
text: epididymal protein 1
GeneType: Name: gene with protein product
Rare disease: Niemann-Pick disease type C, juvenile neurologic onset (Orphanet code 216981)
Associated genes:
Name: NPC intracellular cholesterol transporter 1
Symbol: NPC1
Synonyms: lang: en
text: SLC65A1
GeneType: Name: gene with protein product
Name: NPC intracellular cholesterol transporter 2
Symbol: NPC2
Synonyms: lang: en
text: EDDM1
lang: en
text: HE1
lang: en
text: NP-C2
lang: en
text: epididymal protein 1
GeneType: Name: gene with protein product
Rare disease: Spinocerebellar ataxia type 31 (Orphanet code 217012)
Associated genes:
Name: brain expressed associated with NEDD4 1
Symbol: BEAN1
GeneType: Name: gene with protein product
Rare disease: Fanconi-Bickel syndrome (Orphanet code 2088)
Associated genes:
Name: solute carrier family 2 member 2
Symbol: SLC2A2
Synonyms: lang: en
text: GLUT-2
GeneType: Name: gene with protein product
Rare disease: BNAR syndrome (Orphanet code 217266)
Associated genes:
Name: FRAS1 related extracellular matrix 1
Symbol: FREM1
Synonyms: lang: en
text: C9orf143
lang: en
text: C9orf145
lang: en
text: DKFZp686M16108
lang: en
text: FLJ25461
lang: en
text: TILRR
GeneType: Name: gene with protein product
Rare disease: Birdshot chorioretinopathy (Orphanet code 179)
Associated genes:
Name: major histocompatibility complex, class I, A
Symbol: HLA-A
GeneType: Name: gene with protein product
Rare disease: Classic mycosis fungoides (Orphanet code 2584)
Associated genes:
Name: cytotoxic T-lymphocyte associated protein 4
Symbol: CTLA4
Synonyms: lang: en
text: CD
lang: en
text: CD152
lang: en
text: CTLA-4
lang: en
text: GSE
lang: en
text: celiac disease
lang: en
text: gluten-sensitive enteropathy
GeneType: Name: gene with protein product
Name: TNF receptor superfamily member 1B
Symbol: TNFRSF1B
Synonyms: lang: en
text: CD120b
lang: en
text: TNF-R-II
lang: en
text: TNF-R75
lang: en
text: TNFBR
lang: en
text: TNFR80
lang: en
text: p75
GeneType: Name: gene with protein product
Name: CD28 molecule
Symbol: CD28
Synonyms: lang: en
text: T-cell-specific surface glycoprotein
GeneType: Name: gene with protein product
Rare disease: Mucopolysaccharidosis type 2, attenuated form (Orphanet code 217093)
Associated genes:
Name: iduronate 2-sulfatase
Symbol: IDS
Synonyms: lang: en
text: Hunter syndrome
lang: en
text: ID2S
GeneType: Name: gene with protein product
Rare disease: Sézary syndrome (Orphanet code 3162)
Associated genes:
Name: cytotoxic T-lymphocyte associated protein 4
Symbol: CTLA4
Synonyms: lang: en
text: CD
lang: en
text: CD152
lang: en
text: CTLA-4
lang: en
text: GSE
lang: en
text: celiac disease
lang: en
text: gluten-sensitive enteropathy
GeneType: Name: gene with protein product
Name: TNF receptor superfamily member 1B
Symbol: TNFRSF1B
Synonyms: lang: en
text: CD120b
lang: en
text: TNF-R-II
lang: en
text: TNF-R75
lang: en
text: TNFBR
lang: en
text: TNFR80
lang: en
text: p75
GeneType: Name: gene with protein product
Name: CD28 molecule
Symbol: CD28
Synonyms: lang: en
text: T-cell-specific surface glycoprotein
GeneType: Name: gene with protein product
Rare disease: Mucopolysaccharidosis type 2, severe form (Orphanet code 217085)
Associated genes:
Name: iduronate 2-sulfatase
Symbol: IDS
Synonyms: lang: en
text: Hunter syndrome
lang: en
text: ID2S
GeneType: Name: gene with protein product
Rare disease: CINCA syndrome (Orphanet code 1451)
Associated genes:
Name: NLR family pyrin domain containing 3
Symbol: NLRP3
Synonyms: lang: en
text: AGTAVPRL
lang: en
text: AII
lang: en
text: AVP
lang: en
text: CLR1.1
lang: en
text: Cryopyrin
lang: en
text: FCAS
lang: en
text: FCU
lang: en
text: MWS
lang: en
text: NALP3
lang: en
text: PYPAF1
lang: en
text: nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 3
GeneType: Name: gene with protein product
Rare disease: Isolated nail clubbing (Orphanet code 217059)
Associated genes:
Name: 15-hydroxyprostaglandin dehydrogenase
Symbol: HPGD
Synonyms: lang: en
text: 15-hydroxyprostaglandin dehydrogenase (NAD(+))
lang: en
text: SDR36C1
lang: en
text: short chain dehydrogenase/reductase family 36C, member 1
GeneType: Name: gene with protein product
Rare disease: Autosomal recessive intermediate Charcot-Marie-Tooth disease type A (Orphanet code 217055)
Associated genes:
Name: ganglioside induced differentiation associated protein 1
Symbol: GDAP1
Synonyms: lang: en
text: CMT2K
lang: en
text: CMT4
GeneType: Name: gene with protein product
Rare disease: RIN2 syndrome (Orphanet code 217335)
Associated genes:
Name: Ras and Rab interactor 2
Symbol: RIN2
Synonyms: lang: en
text: RASSF4
GeneType: Name: gene with protein product
Rare disease: Opitz GBBB syndrome (Orphanet code 2745)
Associated genes:
Name: midline 1
Symbol: MID1
Synonyms: lang: en
text: FXY
lang: en
text: OS
lang: en
text: Opitz/BBB syndrome
lang: en
text: RNF59
lang: en
text: TRIM18
GeneType: Name: gene with protein product
Rare disease: REN-related autosomal dominant tubulointerstitial kidney disease (Orphanet code 217330)
Associated genes:
Name: renin
Symbol: REN
GeneType: Name: gene with protein product
Rare disease: Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome (Orphanet code 1171)
Associated genes:
Name: ATPase Na+/K+ transporting subunit alpha 3
Symbol: ATP1A3
Synonyms: lang: en
text: sodium pump subunit alpha-3
lang: en
text: sodium-potassium ATPase catalytic subunit alpha-3
lang: en
text: sodium/potassium-transporting ATPase subunit alpha-3
GeneType: Name: gene with protein product
Rare disease: Chronic respiratory distress with surfactant metabolism deficiency (Orphanet code 217566)
Associated genes:
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
Rare disease: Neonatal acute respiratory distress due to SP-B deficiency (Orphanet code 217563)
Associated genes:
Name: surfactant protein B
Symbol: SFTPB
Synonyms: lang: en
text: SP-B
GeneType: Name: gene with protein product
Rare disease: Hereditary hypotrichosis with recurrent skin vesicles (Orphanet code 217407)
Associated genes:
Name: desmocollin 3
Symbol: DSC3
Synonyms: lang: en
text: CDHF3
lang: en
text: DSC
lang: en
text: DSC1
lang: en
text: DSC2
GeneType: Name: gene with protein product
Rare disease: Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency (Orphanet code 217467)
Associated genes:
Name: histidine rich glycoprotein
Symbol: HRG
Synonyms: lang: en
text: HPRG
lang: en
text: HRGP
lang: en
text: histidine-proline rich glycoprotein
lang: en
text: thrombophilia due to elevated HRG
GeneType: Name: gene with protein product
Rare disease: Combined immunodeficiency due to DOCK8 deficiency (Orphanet code 217390)
Associated genes:
Name: dedicator of cytokinesis 8
Symbol: DOCK8
Synonyms: lang: en
text: FLJ00026
lang: en
text: FLJ00152
lang: en
text: FLJ00346
lang: en
text: ZIR8
GeneType: Name: gene with protein product
Rare disease: 17p13.3 microduplication syndrome (Orphanet code 217385)
Associated genes:
Name: platelet activating factor acetylhydrolase 1b regulatory subunit 1
Symbol: PAFAH1B1
Synonyms: lang: en
text: LIS1
lang: en
text: NudF
lang: en
text: PAFAH
lang: en
text: lissencephaly-1
GeneType: Name: gene with protein product
Name: tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon
Symbol: YWHAE
Synonyms: lang: en
text: 14-3-3 epsilon
lang: en
text: FLJ45465
GeneType: Name: gene with protein product
Rare disease: Progressive polyneuropathy with bilateral striatal necrosis (Orphanet code 217396)
Associated genes:
Name: solute carrier family 25 member 19
Symbol: SLC25A19
Synonyms: lang: en
text: DNC
lang: en
text: Deoxynucleotide carrier
lang: en
text: MUP1
lang: en
text: Mitochondrial thiamine pyrophosphate carrier
lang: en
text: TPC
lang: en
text: mitochondrial uncoupling protein 1
GeneType: Name: gene with protein product
Rare disease: Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins (Orphanet code 217371)
Associated genes:
Name: tRNA mitochondrial 2-thiouridylase
Symbol: TRMU
Synonyms: lang: en
text: FLJ10140
lang: en
text: MTO2
lang: en
text: MTU1
lang: en
text: mitochondrial tRNA-specific 2-thiouridylase 1
GeneType: Name: gene with protein product
Rare disease: Neurodegenerative syndrome due to cerebral folate transport deficiency (Orphanet code 217382)
Associated genes:
Name: folate receptor 1
Symbol: FOLR1
Synonyms: lang: en
text: FRa
lang: en
text: folate receptor alpha
GeneType: Name: gene with protein product
Rare disease: Microduplication Xp11.22p11.23 syndrome (Orphanet code 217377)
Associated genes:
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: Sensorineural deafness with dilated cardiomyopathy (Orphanet code 217622)
Associated genes:
Name: EYA transcriptional coactivator and phosphatase 4
Symbol: EYA4
GeneType: Name: gene with protein product
Rare disease: Congenital factor XIII deficiency (Orphanet code 331)
Associated genes:
Name: coagulation factor XIII A chain
Symbol: F13A1
GeneType: Name: gene with protein product
Name: coagulation factor XIII B chain
Symbol: F13B
Synonyms: lang: en
text: FXIIIB
GeneType: Name: gene with protein product
Rare disease: Carnitine-acylcarnitine translocase deficiency (Orphanet code 159)
Associated genes:
Name: solute carrier family 25 member 20
Symbol: SLC25A20
Synonyms: lang: en
text: CAC
lang: en
text: Mitochondrial carnitine/acylcarnitine carrier protein
lang: en
text: carnitine-acylcarnitine carrier
lang: en
text: carnitine/acylcarnitine translocase
GeneType: Name: gene with protein product
Rare disease: Congenital alpha2-antiplasmin deficiency (Orphanet code 79)
Associated genes:
Name: serpin family F member 2
Symbol: SERPINF2
Synonyms: lang: en
text: A2AP
lang: en
text: AAP
lang: en
text: ALPHA-2-PI
lang: en
text: API
lang: en
text: alpha-2-antiplasmin
lang: en
text: alpha-2-plasmin inhibitor
lang: en
text: alpha2AP
GeneType: Name: gene with protein product
Rare disease: Histidinemia (Orphanet code 2157)
Associated genes:
Name: histidine ammonia-lyase
Symbol: HAL
GeneType: Name: gene with protein product
Rare disease: Limited cutaneous systemic sclerosis (Orphanet code 220402)
Associated genes:
Name: caveolin 1
Symbol: CAV1
GeneType: Name: gene with protein product
Name: major histocompatibility complex, class II, DR beta 1
Symbol: HLA-DRB1
GeneType: Name: gene with protein product
Name: cellular communication network factor 2
Symbol: CCN2
Synonyms: lang: en
text: CCN2
lang: en
text: IGFBP8
GeneType: Name: gene with protein product
Name: interferon regulatory factor 5
Symbol: IRF5
Synonyms: lang: en
text: IRF-5
GeneType: Name: gene with protein product
Name: KIAA0319 like
Symbol: KIAA0319L
Synonyms: lang: en
text: AAV receptor
lang: en
text: AAVR
lang: en
text: KIAA1837
GeneType: Name: gene with protein product
Name: C-C motif chemokine receptor 6
Symbol: CCR6
Synonyms: lang: en
text: BN-1
lang: en
text: CD196
lang: en
text: CKR-L3
lang: en
text: CMKBR6
lang: en
text: DCR2
lang: en
text: DRY-6
lang: en
text: GPR-CY4
lang: en
text: GPR29
GeneType: Name: gene with protein product
Rare disease: Saccharopinuria (Orphanet code 3124)
Associated genes:
Name: aminoadipate-semialdehyde synthase
Symbol: AASS
Synonyms: lang: en
text: LKRSDH
lang: en
text: LORSDH
lang: en
text: alpha-aminoadipic semialdehyde synthase
lang: en
text: lysine ketoglutarate reductase/saccharopine dehydrogenase
GeneType: Name: gene with protein product
Rare disease: Limited systemic sclerosis (Orphanet code 220407)
Associated genes:
Name: major histocompatibility complex, class II, DR beta 1
Symbol: HLA-DRB1
GeneType: Name: gene with protein product
Rare disease: Hyperlysinemia (Orphanet code 2203)
Associated genes:
Name: aminoadipate-semialdehyde synthase
Symbol: AASS
Synonyms: lang: en
text: LKRSDH
lang: en
text: LORSDH
lang: en
text: alpha-aminoadipic semialdehyde synthase
lang: en
text: lysine ketoglutarate reductase/saccharopine dehydrogenase
GeneType: Name: gene with protein product
Rare disease: Diffuse cutaneous systemic sclerosis (Orphanet code 220393)
Associated genes:
Name: caveolin 1
Symbol: CAV1
GeneType: Name: gene with protein product
Name: major histocompatibility complex, class II, DR beta 1
Symbol: HLA-DRB1
GeneType: Name: gene with protein product
Name: cellular communication network factor 2
Symbol: CCN2
Synonyms: lang: en
text: CCN2
lang: en
text: IGFBP8
GeneType: Name: gene with protein product
Name: interferon regulatory factor 5
Symbol: IRF5
Synonyms: lang: en
text: IRF-5
GeneType: Name: gene with protein product
Name: C-C motif chemokine receptor 6
Symbol: CCR6
Synonyms: lang: en
text: BN-1
lang: en
text: CD196
lang: en
text: CKR-L3
lang: en
text: CMKBR6
lang: en
text: DCR2
lang: en
text: DRY-6
lang: en
text: GPR-CY4
lang: en
text: GPR29
GeneType: Name: gene with protein product
Rare disease: Congenital intrinsic factor deficiency (Orphanet code 332)
Associated genes:
Name: cobalamin binding intrinsic factor
Symbol: CBLIF
Synonyms: lang: en
text: IF
lang: en
text: IFMH
lang: en
text: INF
lang: en
text: TCN3
GeneType: Name: gene with protein product
Rare disease: Quebec platelet disorder (Orphanet code 220436)
Associated genes:
Name: plasminogen activator, urokinase
Symbol: PLAU
Synonyms: lang: en
text: UPA
lang: en
text: URK
GeneType: Name: gene with protein product
Rare disease: Dicarboxylic aminoaciduria (Orphanet code 2195)
Associated genes:
Name: solute carrier family 1 member 1
Symbol: SLC1A1
Synonyms: lang: en
text: EAAC1
lang: en
text: EAAT3
lang: en
text: Excitatory amino acid transporter 3
lang: en
text: excitatory amino acid carrier 1
lang: en
text: hEAAC1
GeneType: Name: gene with protein product
Rare disease: Bleeding diathesis due to thromboxane synthesis deficiency (Orphanet code 220443)
Associated genes:
Name: thromboxane A2 receptor
Symbol: TBXA2R
GeneType: Name: gene with protein product
Rare disease: Methylcobalamin deficiency type cblG (Orphanet code 2170)
Associated genes:
Name: 5-methyltetrahydrofolate-homocysteine methyltransferase
Symbol: MTR
Synonyms: lang: en
text: Methionine synthase
lang: en
text: cblG
GeneType: Name: gene with protein product
Rare disease: Xeroderma pigmentosum-Cockayne syndrome complex (Orphanet code 220295)
Associated genes:
Name: ERCC excision repair 5, endonuclease
Symbol: ERCC5
Synonyms: lang: en
text: Cockayne syndrome
GeneType: Name: gene with protein product
Name: ERCC excision repair 4, endonuclease catalytic subunit
Symbol: ERCC4
Synonyms: lang: en
text: FANCQ
lang: en
text: RAD1
lang: en
text: xeroderma pigmentosum, complementation group F
GeneType: Name: gene with protein product
Name: ERCC excision repair 2, TFIIH core complex helicase subunit
Symbol: ERCC2
Synonyms: lang: en
text: EM9
lang: en
text: MAG
lang: en
text: MGC102762
lang: en
text: MGC126218
lang: en
text: MGC126219
lang: en
text: TFIIH
lang: en
text: TFIIH basal transcription factor complex helicase XPB subunit
lang: en
text: excision repair cross-complementing rodent repair deficiency, complementation group 2 protein
GeneType: Name: gene with protein product
Name: ERCC excision repair 3, TFIIH core complex helicase subunit
Symbol: ERCC3
Synonyms: lang: en
text: BTF2
lang: en
text: GTF2H
lang: en
text: RAD25
lang: en
text: Ssl2
lang: en
text: TFIIH
lang: en
text: XPB
lang: en
text: xeroderma pigmentosum group B complementing
GeneType: Name: gene with protein product
Rare disease: Gyrate atrophy of choroid and retina (Orphanet code 414)
Associated genes:
Name: ornithine aminotransferase
Symbol: OAT
Synonyms: lang: en
text: HOGA
lang: en
text: Ornithine aminotransferase
lang: en
text: gyrate atrophy
lang: en
text: ornithine aminotransferase precursor
GeneType: Name: gene with protein product
Rare disease: Hyperammonemia due to N-acetylglutamate synthase deficiency (Orphanet code 927)
Associated genes:
Name: N-acetylglutamate synthase
Symbol: NAGS
Synonyms: lang: en
text: AGAS
lang: en
text: ARGA
lang: en
text: NAT7
GeneType: Name: gene with protein product
Rare disease: Phosphoenolpyruvate carboxykinase deficiency (Orphanet code 2880)
Associated genes:
Name: phosphoenolpyruvate carboxykinase 1
Symbol: PCK1
Synonyms: lang: en
text: PEPCK-C
GeneType: Name: gene with protein product
Name: phosphoenolpyruvate carboxykinase 2, mitochondrial
Symbol: PCK2
Synonyms: lang: en
text: PEPCK
lang: en
text: PEPCK2
GeneType: Name: gene with protein product
Rare disease: D-glyceric aciduria (Orphanet code 941)
Associated genes:
Name: glycerate kinase
Symbol: GLYCTK
Synonyms: lang: en
text: HBEBP2
lang: en
text: HBEBP4
GeneType: Name: gene with protein product
Rare disease: Laron syndrome with immunodeficiency (Orphanet code 220465)
Associated genes:
Name: signal transducer and activator of transcription 5B
Symbol: STAT5B
GeneType: Name: gene with protein product
Rare disease: Pentosuria (Orphanet code 2843)
Associated genes:
Name: dicarbonyl and L-xylulose reductase
Symbol: DCXR
Synonyms: lang: en
text: DCR
lang: en
text: HCR2
lang: en
text: KIDCR
lang: en
text: P34H
lang: en
text: SDR20C1
lang: en
text: human carbonyl reductase 2
lang: en
text: kidney dicarbonyl reductase
lang: en
text: short chain dehydrogenase/reductase family 20C, member 1
lang: en
text: sperm surface protein P34H
GeneType: Name: gene with protein product
Rare disease: Joubert syndrome with renal defect (Orphanet code 220497)
Associated genes:
Name: nephrocystin 1
Symbol: NPHP1
Synonyms: lang: en
text: JBTS4
lang: en
text: SLSN1
GeneType: Name: gene with protein product
Name: RPGRIP1 like
Symbol: RPGRIP1L
Synonyms: lang: en
text: CORS3
lang: en
text: FTM
lang: en
text: JBTS7
lang: en
text: KIAA1005
lang: en
text: MKS5
lang: en
text: Meckel syndrome, type 5
lang: en
text: NPHP8
lang: en
text: PPP1R134
lang: en
text: fantom homolog
lang: en
text: protein phosphatase 1, regulatory subunit 134
GeneType: Name: gene with protein product
Name: transmembrane protein 237
Symbol: TMEM237
Synonyms: lang: en
text: JBTS14
GeneType: Name: gene with protein product
Rare disease: Cystathioninuria (Orphanet code 212)
Associated genes:
Name: cystathionine gamma-lyase
Symbol: CTH
Synonyms: lang: en
text: CSE
GeneType: Name: gene with protein product
Rare disease: Joubert syndrome with ocular defect (Orphanet code 220493)
Associated genes:
Name: Abelson helper integration site 1
Symbol: AHI1
Synonyms: lang: en
text: FLJ20069
lang: en
text: JBTS3
lang: en
text: Jouberin
lang: en
text: ORF1
GeneType: Name: gene with protein product
Name: MKS transition zone complex subunit 1
Symbol: MKS1
Synonyms: lang: en
text: BBS13
lang: en
text: FLJ20345
lang: en
text: POC12
lang: en
text: POC12 centriolar protein homolog (Chlamydomonas)
GeneType: Name: gene with protein product
Name: inositol polyphosphate-5-phosphatase E
Symbol: INPP5E
Synonyms: lang: en
text: CORS1
lang: en
text: PPI5PIV
lang: en
text: Phosphatidylinositol polyphosphate 5-phosphatase type IV
lang: en
text: pharbin
GeneType: Name: gene with protein product
Name: centrosomal protein 41
Symbol: CEP41
Synonyms: lang: en
text: DKFZp762H1311
lang: en
text: FLJ22445
lang: en
text: JBTS15
GeneType: Name: gene with protein product
Name: centrosomal protein 120
Symbol: CEP120
Synonyms: lang: en
text: FLJ36090
GeneType: Name: gene with protein product
Rare disease: Lysinuric protein intolerance (Orphanet code 470)
Associated genes:
Name: solute carrier family 7 member 7
Symbol: SLC7A7
Synonyms: lang: en
text: Y+L amino acid transporter 1
lang: en
text: Y+LAT1
lang: en
text: y+LAT-1
GeneType: Name: gene with protein product