TaoMedAI/RareMedData huggingface dataset:
Rare disease: Familial papillary or follicular thyroid carcinoma (Orphanet code 319487)
Associated genes:
Name: multiple inositol-polyphosphate phosphatase 1
Symbol: MINPP1
Synonyms: lang: en
text: MIPP
GeneType: Name: gene with protein product
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
Name: hyaluronan binding protein 2
Symbol: HABP2
Synonyms: lang: en
text: FSAP
lang: en
text: HABP
lang: en
text: HGFAL
lang: en
text: PHBP
lang: en
text: factor VII activating protein
lang: en
text: plasma hyaluronan binding protein
GeneType: Name: gene with protein product
Rare disease: Acute myeloid leukemia with CEBPA somatic mutations (Orphanet code 319480)
Associated genes:
Name: CCAAT enhancer binding protein alpha
Symbol: CEBPA
Synonyms: lang: en
text: C/EBP-alpha
GeneType: Name: gene with protein product
Rare disease: Combined oxidative phosphorylation defect type 8 (Orphanet code 319504)
Associated genes:
Name: alanyl-tRNA synthetase 2, mitochondrial
Symbol: AARS2
Synonyms: lang: en
text: KIAA1270
lang: en
text: alanine tRNA ligase 2, mitochondrial
lang: en
text: bA444E17.1
GeneType: Name: gene with protein product
Rare disease: Inherited acute myeloid leukemia (Orphanet code 319465)
Associated genes:
Name: CCAAT enhancer binding protein alpha
Symbol: CEBPA
Synonyms: lang: en
text: C/EBP-alpha
GeneType: Name: gene with protein product
Name: transglutaminase 6
Symbol: TGM6
Synonyms: lang: en
text: SCA35
lang: en
text: TGY
lang: en
text: dJ734P14.3
lang: en
text: protein-glutamine gamma-glutamyltransferase 6
lang: en
text: spinocerebellar ataxia 35
GeneType: Name: gene with protein product
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
Name: GATA binding protein 2
Symbol: GATA2
Synonyms: lang: en
text: NFE1B
GeneType: Name: gene with protein product
Rare disease: Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations (Orphanet code 319462)
Associated genes:
Name: BRCA2 DNA repair associated
Symbol: BRCA2
Synonyms: lang: en
text: BRCA1/BRCA2-containing complex, subunit 2
lang: en
text: BRCC2
lang: en
text: FAD
lang: en
text: FAD1
lang: en
text: XRCC11
GeneType: Name: gene with protein product
Rare disease: Autosomal recessive spastic paraplegia type 53 (Orphanet code 319199)
Associated genes:
Name: VPS37A subunit of ESCRT-I
Symbol: VPS37A
Synonyms: lang: en
text: FLJ32642
lang: en
text: HCRP1
lang: en
text: SPG53
lang: en
text: hepatocellular carcinoma related protein 1
GeneType: Name: gene with protein product
Rare disease: Congenital myopathy with internal nuclei and atypical cores (Orphanet code 319160)
Associated genes:
Name: coiled-coil domain containing 78
Symbol: CCDC78
Synonyms: lang: en
text: FLJ34512
GeneType: Name: gene with protein product
Rare disease: Familial cortical myoclonus (Orphanet code 319189)
Associated genes:
Name: nucleolar protein 3
Symbol: NOL3
Synonyms: lang: en
text: ARC
lang: en
text: CARD2
lang: en
text: MYP
lang: en
text: NOP30
GeneType: Name: gene with protein product
Rare disease: Diencephalic-mesencephalic junction dysplasia (Orphanet code 319192)
Associated genes:
Name: GS homeobox 2
Symbol: GSX2
Synonyms: lang: en
text: Gsh2
GeneType: Name: gene with protein product
Name: protocadherin 12
Symbol: PCDH12
Synonyms: lang: en
text: VE-cadherin-2
GeneType: Name: gene with protein product
Rare disease: Wiedemann-Steiner syndrome (Orphanet code 319182)
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: Combined immunodeficiency due to ORAI1 deficiency (Orphanet code 317428)
Associated genes:
Name: ORAI calcium release-activated calcium modulator 1
Symbol: ORAI1
Synonyms: lang: en
text: CRACM1
lang: en
text: FLJ14466
lang: en
text: calcium release-activated calcium modulator 1
GeneType: Name: gene with protein product
Rare disease: Severe combined immunodeficiency due to DNA-PKcs deficiency (Orphanet code 317425)
Associated genes:
Name: protein kinase, DNA-activated, catalytic subunit
Symbol: PRKDC
Synonyms: lang: en
text: DNA-PKC
lang: en
text: DNA-PKcs
lang: en
text: DNA-dependent protein kinase
lang: en
text: DNA-dependent protein kinase catalytic subunit
lang: en
text: DNAPK
lang: en
text: DNAPKc
lang: en
text: DNPK1
lang: en
text: XRCC7
lang: en
text: p350
lang: en
text: p460
GeneType: Name: gene with protein product
Rare disease: Combined immunodeficiency due to STIM1 deficiency (Orphanet code 317430)
Associated genes:
Name: stromal interaction molecule 1
Symbol: STIM1
Synonyms: lang: en
text: D11S4896E
lang: en
text: GOK
GeneType: Name: gene with protein product
Rare disease: Pancytopenia due to IKZF1 mutations (Orphanet code 317473)
Associated genes:
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
Rare disease: XMEN (Orphanet code 317476)
Associated genes:
Name: magnesium transporter 1
Symbol: MAGT1
Synonyms: lang: en
text: DKFZp564K142
lang: en
text: IAP
lang: en
text: MRX95
lang: en
text: OST3B
lang: en
text: SLC58A1
lang: en
text: oligosaccharyltransferase 3 homolog B (S. cerevisiae)
GeneType: Name: gene with protein product
Rare disease: Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form (Orphanet code 315311)
Associated genes:
Name: cytochrome P450 family 21 subfamily A member 2
Symbol: CYP21A2
Synonyms: lang: en
text: CA21H
lang: en
text: CAH1
lang: en
text: CPS1
lang: en
text: P450c21B
lang: en
text: Steroid 21-monooxygenase
GeneType: Name: gene with protein product
Rare disease: Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form (Orphanet code 315306)
Associated genes:
Name: cytochrome P450 family 21 subfamily A member 2
Symbol: CYP21A2
Synonyms: lang: en
text: CA21H
lang: en
text: CAH1
lang: en
text: CPS1
lang: en
text: P450c21B
lang: en
text: Steroid 21-monooxygenase
GeneType: Name: gene with protein product
Rare disease: X-linked non progressive cerebellar ataxia (Orphanet code 314978)
Associated genes:
Name: ATPase plasma membrane Ca2+ transporting 3
Symbol: ATP2B3
Synonyms: lang: en
text: CFAP39
lang: en
text: PMCA3
lang: en
text: Plasma membrane calcium-transporting ATPase 3
lang: en
text: cilia and flagella associated protein 39
lang: en
text: plasma membrane calcium-transporting ATPase 3
GeneType: Name: gene with protein product
Rare disease: Primary hypereosinophilic syndrome (Orphanet code 314950)
Associated genes:
Name: fibroblast growth factor receptor 1
Symbol: FGFR1
Synonyms: lang: en
text: BFGFR
lang: en
text: CD331
lang: en
text: CEK
lang: en
text: FLG
lang: en
text: H2
lang: en
text: H3
lang: en
text: H4
lang: en
text: H5
lang: en
text: N-SAM
lang: en
text: Pfeiffer syndrome
GeneType: Name: gene with protein product
Name: factor interacting with PAPOLA and CPSF1
Symbol: FIP1L1
Synonyms: lang: en
text: DKFZp586K0717
lang: en
text: FIP1
lang: en
text: hFip1
GeneType: Name: gene with protein product
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: platelet derived growth factor receptor beta
Symbol: PDGFRB
Synonyms: lang: en
text: CD140b
lang: en
text: JTK12
lang: en
text: PDGFR1
GeneType: Name: gene with protein product
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: Mild Canavan disease (Orphanet code 314918)
Associated genes:
Name: aspartoacylase
Symbol: ASPA
Synonyms: lang: en
text: ACY2
lang: en
text: ASP
lang: en
text: Canavan disease
lang: en
text: aminoacylase 2
GeneType: Name: gene with protein product
Rare disease: Severe Canavan disease (Orphanet code 314911)
Associated genes:
Name: aspartoacylase
Symbol: ASPA
Synonyms: lang: en
text: ACY2
lang: en
text: ASP
lang: en
text: Canavan disease
lang: en
text: aminoacylase 2
GeneType: Name: gene with protein product
Rare disease: Cerebrofacioarticular syndrome (Orphanet code 314679)
Associated genes:
Name: dachsous cadherin-related 1
Symbol: DCHS1
Synonyms: lang: en
text: CDHR6
lang: en
text: FIB1
lang: en
text: FLJ11790
lang: en
text: KIAA1773
lang: en
text: cadherin-related family member 6
GeneType: Name: gene with protein product
Name: FAT atypical cadherin 4
Symbol: FAT4
Synonyms: lang: en
text: CDHF14
lang: en
text: CDHR11
lang: en
text: FAT-J
lang: en
text: cadherin-related family member 11
GeneType: Name: gene with protein product
Rare disease: TMEM165-CDG (Orphanet code 314667)
Associated genes:
Name: transmembrane protein 165
Symbol: TMEM165
Synonyms: lang: en
text: GDT1
lang: en
text: SLC64A1
lang: en
text: TMPT27
lang: en
text: TPA regulated locus
lang: en
text: TPARL
GeneType: Name: gene with protein product
Rare disease: Combined immunodeficiency due to STK4 deficiency (Orphanet code 314689)
Associated genes:
Name: serine/threonine kinase 4
Symbol: STK4
Synonyms: lang: en
text: KRS2
lang: en
text: Kinase responsive to stress 2
lang: en
text: MST1
lang: en
text: Mammalian sterile 20-like 1
lang: en
text: YSK3
lang: en
text: Yeast Ste20-like
lang: en
text: hippo (Drosophila) homolog
lang: en
text: kinase responsive to stress 2
lang: en
text: mammalian sterile 20-like 1
lang: en
text: yeast Ste20-like
GeneType: Name: gene with protein product
Rare disease: Variant ABeta2M amyloidosis (Orphanet code 314652)
Associated genes:
Name: beta-2-microglobulin
Symbol: B2M
GeneType: Name: gene with protein product
Rare disease: Non-progressive cerebellar ataxia with intellectual disability (Orphanet code 314647)
Associated genes:
Name: calmodulin binding transcription activator 1
Symbol: CAMTA1
Synonyms: lang: en
text: KIAA0833
GeneType: Name: gene with protein product
Name: POU class 4 homeobox 1
Symbol: POU4F1
Synonyms: lang: en
text: RDC-1
GeneType: Name: gene with protein product
Rare disease: Segmental progressive overgrowth syndrome with fibroadipose hyperplasia (Orphanet code 314662)
Associated genes:
Name: phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha
Symbol: PIK3CA
Synonyms: lang: en
text: PI3K
GeneType: Name: gene with protein product
Rare disease: Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion (Orphanet code 314655)
Associated genes:
Name: purine rich element binding protein A
Symbol: PURA
Synonyms: lang: en
text: PUR-ALPHA
lang: en
text: PUR1
lang: en
text: PURALPHA
GeneType: Name: gene with protein product
Rare disease: CLN11 disease (Orphanet code 314629)
Associated genes:
Name: granulin precursor
Symbol: GRN
Synonyms: lang: en
text: CLN11
lang: en
text: PCDGF
lang: en
text: PGRN
lang: en
text: progranulin
GeneType: Name: gene with protein product
Rare disease: Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency (Orphanet code 314637)
Associated genes:
Name: mitochondrial tRNA translation optimization 1
Symbol: MTO1
GeneType: Name: gene with protein product
Rare disease: CLN12 disease (Orphanet code 314632)
Associated genes:
Name: ATPase cation transporting 13A2
Symbol: ATP13A2
Synonyms: lang: en
text: CLN12
lang: en
text: HSA9947
GeneType: Name: gene with protein product
Rare disease: Short stature due to partial GHR deficiency (Orphanet code 314802)
Associated genes:
Name: growth hormone receptor
Symbol: GHR
Synonyms: lang: en
text: GHBP
lang: en
text: growth hormone binding protein
GeneType: Name: gene with protein product
Rare disease: Short stature due to GHSR deficiency (Orphanet code 314811)
Associated genes:
Name: growth hormone secretagogue receptor
Symbol: GHSR
Synonyms: lang: en
text: GHS-R
lang: en
text: GHS-R1a
lang: en
text: GHSR-1a
lang: en
text: ghrelin receptor
GeneType: Name: gene with protein product
Rare disease: Familial isolated pituitary adenoma (Orphanet code 314777)
Associated genes:
Name: cadherin related 23
Symbol: CDH23
Synonyms: lang: en
text: CDHR23
lang: en
text: cadherin-related family member 23
GeneType: Name: gene with protein product
Name: aryl hydrocarbon receptor interacting protein
Symbol: AIP
Synonyms: lang: en
text: ARA9
lang: en
text: Ah receptor activated 9
lang: en
text: FK506-binding protein 37
lang: en
text: FKBP prolyl isomerase 16
lang: en
text: FKBP16
lang: en
text: FKBP37
lang: en
text: X-associated protein-2
lang: en
text: XAP2
lang: en
text: aryl hydrocarbon receptor-associated protein 9
lang: en
text: hepatitis B virus X-associated cellular protein 2
GeneType: Name: gene with protein product
Rare disease: Silent pituitary adenoma (Orphanet code 314786)
Associated genes:
Name: menin 1
Symbol: MEN1
Synonyms: lang: en
text: menin
GeneType: Name: gene with protein product
Name: aryl hydrocarbon receptor interacting protein
Symbol: AIP
Synonyms: lang: en
text: ARA9
lang: en
text: Ah receptor activated 9
lang: en
text: FK506-binding protein 37
lang: en
text: FKBP prolyl isomerase 16
lang: en
text: FKBP16
lang: en
text: FKBP37
lang: en
text: X-associated protein-2
lang: en
text: XAP2
lang: en
text: aryl hydrocarbon receptor-associated protein 9
lang: en
text: hepatitis B virus X-associated cellular protein 2
GeneType: Name: gene with protein product
Rare disease: Null pituitary adenoma (Orphanet code 314790)
Associated genes:
Name: menin 1
Symbol: MEN1
Synonyms: lang: en
text: menin
GeneType: Name: gene with protein product
Name: aryl hydrocarbon receptor interacting protein
Symbol: AIP
Synonyms: lang: en
text: ARA9
lang: en
text: Ah receptor activated 9
lang: en
text: FK506-binding protein 37
lang: en
text: FKBP prolyl isomerase 16
lang: en
text: FKBP16
lang: en
text: FKBP37
lang: en
text: X-associated protein-2
lang: en
text: XAP2
lang: en
text: aryl hydrocarbon receptor-associated protein 9
lang: en
text: hepatitis B virus X-associated cellular protein 2
GeneType: Name: gene with protein product
Rare disease: SHOX-related short stature (Orphanet code 314795)
Associated genes:
Name: SHOX homeobox
Symbol: SHOX
Synonyms: lang: en
text: GCFX
lang: en
text: PHOG
lang: en
text: SHOX1
lang: en
text: SHOXY
lang: en
text: SS
lang: en
text: pseudoautosomal homeobox-containing osteogenic gene
GeneType: Name: gene with protein product
Rare disease: Lethal arteriopathy syndrome due to fibulin-4 deficiency (Orphanet code 314718)
Associated genes:
Name: EGF containing fibulin extracellular matrix protein 2
Symbol: EFEMP2
Synonyms: lang: en
text: FBLN4
lang: en
text: UPH1
lang: en
text: fibulin 4
GeneType: Name: gene with protein product
Rare disease: Atypical dentin dysplasia due to SMOC2 deficiency (Orphanet code 314721)
Associated genes:
Name: SPARC related modular calcium binding 2
Symbol: SMOC2
Synonyms: lang: en
text: SMAP2
GeneType: Name: gene with protein product
Rare disease: Ataxia-telangiectasia variant (Orphanet code 370109)
Associated genes:
Name: ATM serine/threonine kinase
Symbol: ATM
Synonyms: lang: en
text: TEL1
lang: en
text: TEL1, telomere maintenance 1, homolog (S. cerevisiae)
lang: en
text: TELO1
GeneType: Name: gene with protein product
Rare disease: Primary dystonia, DYT17 type (Orphanet code 370103)
Associated genes:
Name: dystonia 17
Symbol: DYT17
GeneType: Name: Disorder-associated locus
Rare disease: Oculocutaneous albinism type 6 (Orphanet code 370097)
Associated genes:
Name: solute carrier family 24 member 5
Symbol: SLC24A5
Synonyms: lang: en
text: JSX
lang: en
text: NCKX5
lang: en
text: Na/Ca-K exchanger 5
lang: en
text: OCA6
lang: en
text: oculocutaneous albinism 6 (autosomal recessive)
GeneType: Name: gene with protein product
Rare disease: Small cell carcinoma of the ovary (Orphanet code 370396)
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: Peripheral primitive neuroectodermal tumor (Orphanet code 370348)
Associated genes:
Name: Fli-1 proto-oncogene, ETS transcription factor
Symbol: FLI1
Synonyms: lang: en
text: EWSR2
lang: en
text: FLI-1
lang: en
text: SIC-1
GeneType: Name: gene with protein product
Rare disease: Extraskeletal Ewing sarcoma (Orphanet code 370334)
Associated genes:
Name: ETS transcription factor ERG
Symbol: ERG
Synonyms: lang: en
text: ETS-related gene
lang: en
text: TMPRSS2-ERG prostate cancer specific
lang: en
text: erg-3
lang: en
text: p55
lang: en
text: transcriptional regulator ERG (transforming protein ERG)
lang: en
text: v-ets erythroblastosis virus E26 oncogene like
GeneType: Name: gene with protein product
Name: EWS RNA binding protein 1
Symbol: EWSR1
Synonyms: lang: en
text: EWS
GeneType: Name: gene with protein product
Name: Fli-1 proto-oncogene, ETS transcription factor
Symbol: FLI1
Synonyms: lang: en
text: EWSR2
lang: en
text: FLI-1
lang: en
text: SIC-1
GeneType: Name: gene with protein product
Name: SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5
Symbol: SMARCA5
Synonyms: lang: en
text: ISWI
lang: en
text: hISWI
lang: en
text: hSNF2H
GeneType: Name: gene with protein product
Rare disease: Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome (Orphanet code 370022)
Associated genes:
Name: laminin subunit alpha 1
Symbol: LAMA1
GeneType: Name: gene with protein product
Rare disease: Acute myeloid leukemia with t(8;16)(p11;p13) translocation (Orphanet code 370026)
Associated genes:
Name: CREB binding protein
Symbol: CREBBP
Synonyms: lang: en
text: CBP
lang: en
text: KAT3A
lang: en
text: RTS
GeneType: Name: gene with protein product
Name: lysine acetyltransferase 6A
Symbol: KAT6A
Synonyms: lang: en
text: MOZ
lang: en
text: Monocytic leukemia zinc finger protein
lang: en
text: ZC2HC6A
GeneType: Name: gene with protein product
Rare disease: Spondyloepimetaphyseal dysplasia, Isidor-Toutain type (Orphanet code 370015)
Associated genes:
Name: ribosomal protein L13
Symbol: RPL13
Synonyms: lang: en
text: BBC1
lang: en
text: D16S444E
lang: en
text: L13
lang: en
text: breast basic conserved 1
lang: en
text: eL13
GeneType: Name: gene with protein product
Rare disease: Acute infantile liver failure-multisystemic involvement syndrome (Orphanet code 370088)
Associated genes:
Name: leucyl-tRNA synthetase 1
Symbol: LARS1
Synonyms: lang: en
text: FLJ10595
lang: en
text: FLJ21788
lang: en
text: HSPC192
lang: en
text: LARS1
lang: en
text: LEUS
lang: en
text: RNTLS
lang: en
text: leucine tRNA ligase 1, cytoplasmic
GeneType: Name: gene with protein product
Rare disease: Muscle-eye-brain disease with bilateral multicystic leucodystrophy (Orphanet code 370997)
Associated genes:
Name: dystroglycan 1
Symbol: DAG1
Synonyms: lang: en
text: 156DAG
lang: en
text: A3a
lang: en
text: AGRNR
lang: en
text: DAG
lang: en
text: alpha-dystroglycan
lang: en
text: beta-dystroglycan
lang: en
text: dystrophin-associated glycoprotein-1
GeneType: Name: gene with protein product
Rare disease: STT3A-CDG (Orphanet code 370921)
Associated genes:
Name: STT3 oligosaccharyltransferase complex catalytic subunit A
Symbol: STT3A
Synonyms: lang: en
text: MGC9042
lang: en
text: STT3-A
lang: en
text: TMC
lang: en
text: dolichyl-diphosphooligosaccharide protein glycotransferase
GeneType: Name: gene with protein product
Rare disease: STT3B-CDG (Orphanet code 370924)
Associated genes:
Name: STT3 oligosaccharyltransferase complex catalytic subunit B
Symbol: STT3B
Synonyms: lang: en
text: Dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit STT3B
lang: en
text: FLJ90106
lang: en
text: SIMP
lang: en
text: STT3-B
lang: en
text: dolichyl-diphosphooligosaccharide protein glycotransferase
lang: en
text: source of immunodominant MHC associated peptides
GeneType: Name: gene with protein product
Rare disease: SSR4-CDG (Orphanet code 370927)
Associated genes:
Name: signal sequence receptor subunit 4
Symbol: SSR4
Synonyms: lang: en
text: TRAPD
lang: en
text: translocon-associated protein delta
GeneType: Name: gene with protein product
Rare disease: XYLT1-CDG (Orphanet code 370930)
Associated genes:
Name: xylosyltransferase 1
Symbol: XYLT1
Synonyms: lang: en
text: PXYLT1
lang: en
text: XT-I
lang: en
text: protein xylosyltransferase 1
GeneType: Name: gene with protein product
Rare disease: Congenital muscular dystrophy with cerebellar involvement (Orphanet code 370959)
Associated genes:
Name: protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
Symbol: POMGNT1
Synonyms: lang: en
text: FLJ20277
lang: en
text: LGMD2O
lang: en
text: MGAT1.2
lang: en
text: protein O-mannose beta-1,2-N-acetylglucosaminyltransferase
GeneType: Name: gene with protein product
Name: protein O-mannosyltransferase 1
Symbol: POMT1
Synonyms: lang: en
text: LGMD2K
lang: en
text: dolichyl-phosphate-mannose-protein mannosyltransferase
GeneType: Name: gene with protein product
Name: protein O-mannosyltransferase 2
Symbol: POMT2
Synonyms: lang: en
text: Dolichyl-phosphate-mannose--protein mannosyltransferase
lang: en
text: LGMD2N
GeneType: Name: gene with protein product
Name: fukutin related protein
Symbol: FKRP
Synonyms: lang: en
text: FKTR
lang: en
text: LGMD2I
lang: en
text: MDC1C
lang: en
text: Ribitol 5-phosphate transferase
GeneType: Name: gene with protein product
Name: protein O-mannose kinase
Symbol: POMK
Synonyms: lang: en
text: FLJ23356
lang: en
text: SGK196
lang: en
text: SgK196
GeneType: Name: gene with protein product
Name: GDP-mannose pyrophosphorylase B
Symbol: GMPPB
Synonyms: lang: en
text: KIAA1851
lang: en
text: mannose-1-phosphate guanyltransferase beta
GeneType: Name: gene with protein product
Rare disease: Congenital muscular dystrophy with intellectual disability (Orphanet code 370968)
Associated genes:
Name: protein O-mannosyltransferase 1
Symbol: POMT1
Synonyms: lang: en
text: LGMD2K
lang: en
text: dolichyl-phosphate-mannose-protein mannosyltransferase
GeneType: Name: gene with protein product
Name: protein O-mannosyltransferase 2
Symbol: POMT2
Synonyms: lang: en
text: Dolichyl-phosphate-mannose--protein mannosyltransferase
lang: en
text: LGMD2N
GeneType: Name: gene with protein product
Name: fukutin related protein
Symbol: FKRP
Synonyms: lang: en
text: FKTR
lang: en
text: LGMD2I
lang: en
text: MDC1C
lang: en
text: Ribitol 5-phosphate transferase
GeneType: Name: gene with protein product
Name: LARGE xylosyl- and glucuronyltransferase 1
Symbol: LARGE1
Synonyms: lang: en
text: KIAA0609
lang: en
text: like-acetylglucosaminyltransferase
GeneType: Name: gene with protein product
Name: GDP-mannose pyrophosphorylase B
Symbol: GMPPB
Synonyms: lang: en
text: KIAA1851
lang: en
text: mannose-1-phosphate guanyltransferase beta
GeneType: Name: gene with protein product