TaoMedAI/RareMedData huggingface dataset:
Rare disease: Congenital short bowel syndrome (Orphanet code 2301)
Associated genes:
Name: filamin A
Symbol: FLNA
Synonyms: lang: en
text: ABP-280
lang: en
text: actin binding protein 280
lang: en
text: alpha filamin
GeneType: Name: gene with protein product
Name: CXADR like membrane protein
Symbol: CLMP
Synonyms: lang: en
text: ACAM
lang: en
text: ASAM
lang: en
text: Adipocyte adhesion molecule
lang: en
text: Adipocyte-specific adhesion molecule
lang: en
text: Coxsackie- and adenovirus receptor-like membrane protein
lang: en
text: FLJ22415
lang: en
text: adipocyte adhesion molecule
lang: en
text: adipocyte-specific adhesion molecule
lang: en
text: coxsackie- and adenovirus receptor-like membrane protein
GeneType: Name: gene with protein product
Rare disease: Hereditary fructose intolerance (Orphanet code 469)
Associated genes:
Name: aldolase, fructose-bisphosphate B
Symbol: ALDOB
GeneType: Name: gene with protein product
Rare disease: Jacobsen syndrome (Orphanet code 2308)
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: Joubert syndrome with oculorenal defect (Orphanet code 2318)
Associated genes:
Name: centrosomal protein 290
Symbol: CEP290
Synonyms: lang: en
text: 3H11Ag
lang: en
text: BBS14
lang: en
text: Bardet-Biedl syndrome 14
lang: en
text: CT87
lang: en
text: FLJ13615
lang: en
text: JBTS5
lang: en
text: Joubert syndrome 5
lang: en
text: KIAA0373
lang: en
text: LCA10
lang: en
text: MKS4
lang: en
text: Meckel syndrome, type 4
lang: en
text: NPHP6
lang: en
text: POC3
lang: en
text: POC3 centriolar protein homolog (Chlamydomonas)
lang: en
text: SLSN6
lang: en
text: cancer/testis antigen 87
lang: en
text: nephrocystin-6
lang: en
text: rd16
GeneType: Name: gene with protein product
Name: coiled-coil and C2 domain containing 2A
Symbol: CC2D2A
Synonyms: lang: en
text: JBTS9
lang: en
text: KIAA1345
lang: en
text: MKS6
lang: en
text: Meckel syndrome, type 6
GeneType: Name: gene with protein product
Name: transmembrane protein 216
Symbol: TMEM216
Synonyms: lang: en
text: HSPC244
lang: en
text: JBTS2
lang: en
text: MGC13379
GeneType: Name: gene with protein product
Name: transmembrane protein 237
Symbol: TMEM237
Synonyms: lang: en
text: JBTS14
GeneType: Name: gene with protein product
Name: transmembrane protein 138
Symbol: TMEM138
Synonyms: lang: en
text: HSPC196
lang: en
text: JBTS16
GeneType: Name: gene with protein product
Name: zinc finger protein 423
Symbol: ZNF423
Synonyms: lang: en
text: Early B-cell factor associated zinc finger protein
lang: en
text: Ebfaz
lang: en
text: JBTS19
lang: en
text: KIAA0760
lang: en
text: NPHP14
lang: en
text: OAZ
lang: en
text: OLF-1/EBF associated zinc finger gene
lang: en
text: Roaz
lang: en
text: Smad- and Olf-interacting zinc finger protein
lang: en
text: Zfp104
lang: en
text: early B-cell factor associated zinc finger protein
lang: en
text: hOAZ
GeneType: Name: gene with protein product
Name: transmembrane protein 231
Symbol: TMEM231
Synonyms: lang: en
text: ALYE870
lang: en
text: FLJ22167
lang: en
text: JBTS20
lang: en
text: MKS11
lang: en
text: PRO1886
GeneType: Name: gene with protein product
Rare disease: Foveal hypoplasia-presenile cataract syndrome (Orphanet code 2253)
Associated genes:
Name: paired box 6
Symbol: PAX6
Synonyms: lang: en
text: AN
lang: en
text: Aniridia 1
lang: en
text: Aniridia 2
lang: en
text: D11S812E
lang: en
text: WAGR
lang: en
text: aniridia, keratitis
GeneType: Name: gene with protein product
Rare disease: Isolated congenital breast hypoplasia/aplasia (Orphanet code 180188)
Associated genes:
Name: protein tyrosine phosphatase receptor type F
Symbol: PTPRF
Synonyms: lang: en
text: leukocyte antigen-related tyrosine phosphatase
lang: en
text: leukocyte common antigen related
GeneType: Name: gene with protein product
Rare disease: Multiple intestinal atresia (Orphanet code 2300)
Associated genes:
Name: tetratricopeptide repeat domain 7A
Symbol: TTC7A
Synonyms: lang: en
text: KIAA1140
GeneType: Name: gene with protein product
Rare disease: Trichorhinophalangeal syndrome type 2 (Orphanet code 502)
Associated genes:
Name: RAD21 cohesin complex component
Symbol: RAD21
Synonyms: lang: en
text: KIAA0078
lang: en
text: SCC1
lang: en
text: hHR21
lang: en
text: kleisin
lang: en
text: sister chromatid cohesion 1
GeneType: Name: gene with protein product
Name: transcriptional repressor GATA binding 1
Symbol: TRPS1
Synonyms: lang: en
text: GC79
lang: en
text: LGCR
GeneType: Name: gene with protein product
Name: exostosin glycosyltransferase 1
Symbol: EXT1
Synonyms: lang: en
text: Glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase
lang: en
text: N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase
lang: en
text: ttv
GeneType: Name: gene with protein product
Rare disease: KID syndrome (Orphanet code 477)
Associated genes:
Name: gap junction protein beta 2
Symbol: GJB2
Synonyms: lang: en
text: CX26
lang: en
text: NSRD1
lang: en
text: connexin 26
GeneType: Name: gene with protein product
Name: gap junction protein beta 6
Symbol: GJB6
Synonyms: lang: en
text: CX30
lang: en
text: EDH
lang: en
text: HED
lang: en
text: connexin 30
GeneType: Name: gene with protein product
Rare disease: Laurence-Moon syndrome (Orphanet code 2377)
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: MASA syndrome (Orphanet code 2466)
Associated genes:
Name: L1 cell adhesion molecule
Symbol: L1CAM
Synonyms: lang: en
text: CAML1
lang: en
text: CD171
lang: en
text: NCAM-L1
lang: en
text: neural cell adhesion molecule L1
GeneType: Name: gene with protein product
Rare disease: Marshall syndrome (Orphanet code 560)
Associated genes:
Name: collagen type XI alpha 1 chain
Symbol: COL11A1
Synonyms: lang: en
text: CO11A1
lang: en
text: STL2
lang: en
text: collagen XI, alpha-1 polypeptide
GeneType: Name: gene with protein product
Rare disease: Moebius syndrome (Orphanet code 570)
Associated genes:
Name: plexin D1
Symbol: PLXND1
Synonyms: lang: en
text: KIAA0620
GeneType: Name: gene with protein product
Name: REV3 like, DNA directed polymerase zeta catalytic subunit
Symbol: REV3L
Synonyms: lang: en
text: POLZ
lang: en
text: REV3
lang: en
text: polymerase, DNA, zeta
GeneType: Name: gene with protein product
Rare disease: Obesity due to leptin receptor gene deficiency (Orphanet code 179494)
Associated genes:
Name: leptin receptor
Symbol: LEPR
Synonyms: lang: en
text: CD295
lang: en
text: OBR
GeneType: Name: gene with protein product
Rare disease: Classical Ehlers-Danlos syndrome (Orphanet code 287)
Associated genes:
Name: collagen type V alpha 2 chain
Symbol: COL5A2
Synonyms: lang: en
text: AB collagen
GeneType: Name: gene with protein product
Name: collagen type V alpha 1 chain
Symbol: COL5A1
Synonyms: lang: en
text: alpha 1 type V collagen
GeneType: Name: gene with protein product
Name: collagen type I alpha 1 chain
Symbol: COL1A1
Synonyms: lang: en
text: OI4
GeneType: Name: gene with protein product
Rare disease: Early-onset autosomal dominant Alzheimer disease (Orphanet code 1020)
Associated genes:
Name: ATP binding cassette subfamily A member 7
Symbol: ABCA7
Synonyms: lang: en
text: ABCX
GeneType: Name: gene with protein product
Name: triggering receptor expressed on myeloid cells 2
Symbol: TREM2
Synonyms: lang: en
text: TREM-2
lang: en
text: Trem2a
lang: en
text: Trem2b
lang: en
text: Trem2c
GeneType: Name: gene with protein product
Name: presenilin 1
Symbol: PSEN1
Synonyms: lang: en
text: FAD
lang: en
text: PS-1
lang: en
text: PS1
lang: en
text: PSNL1
lang: en
text: S182
lang: en
text: familial Alzheimer Disease
GeneType: Name: gene with protein product
Name: presenilin 2
Symbol: PSEN2
Synonyms: lang: en
text: AD3L
lang: en
text: Alzheimer disease 3-like
lang: en
text: E5-1
lang: en
text: PS-2
lang: en
text: PS2
lang: en
text: STM2
GeneType: Name: gene with protein product
Name: amyloid beta precursor protein
Symbol: APP
Synonyms: lang: en
text: alpha-sAPP
lang: en
text: peptidase nexin-II
GeneType: Name: gene with protein product
Name: sortilin related receptor 1
Symbol: SORL1
Synonyms: lang: en
text: LDLR relative with 11 ligand-binding repeats
lang: en
text: LR11
lang: en
text: LRP9
lang: en
text: SorLA
lang: en
text: SorLA-1
lang: en
text: gp250
GeneType: Name: gene with protein product
Name: translocase of outer mitochondrial membrane 40
Symbol: TOMM40
Synonyms: lang: en
text: C19orf1
lang: en
text: D19S1177E
lang: en
text: PER-EC1
lang: en
text: PEREC1
lang: en
text: TOM40
GeneType: Name: gene with protein product
Rare disease: X-linked recessive ocular albinism (Orphanet code 54)
Associated genes:
Name: adaptor related protein complex 3 subunit delta 1
Symbol: AP3D1
Synonyms: lang: en
text: ADTD
GeneType: Name: gene with protein product
Name: G protein-coupled receptor 143
Symbol: GPR143
Synonyms: lang: en
text: ocular albinism 1
GeneType: Name: gene with protein product
Rare disease: Sjögren-Larsson syndrome (Orphanet code 816)
Associated genes:
Name: aldehyde dehydrogenase 3 family member A2
Symbol: ALDH3A2
Synonyms: lang: en
text: FALDH
lang: en
text: fatty aldehyde dehydrogenase
GeneType: Name: gene with protein product
Rare disease: Sotos syndrome (Orphanet code 821)
Associated genes:
Name: nuclear receptor binding SET domain protein 1
Symbol: NSD1
Synonyms: lang: en
text: ARA267
lang: en
text: FLJ22263
lang: en
text: KMT3B
GeneType: Name: gene with protein product
Name: APC regulator of WNT signaling pathway 2
Symbol: APC2
Synonyms: lang: en
text: APCL
lang: en
text: adenomatous polyposis coli like
GeneType: Name: gene with protein product
Rare disease: Stormorken-Sjaastad-Langslet syndrome (Orphanet code 3204)
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
Name: stromal interaction molecule 1
Symbol: STIM1
Synonyms: lang: en
text: D11S4896E
lang: en
text: GOK
GeneType: Name: gene with protein product
Rare disease: Sturge-Weber syndrome (Orphanet code 3205)
Associated genes:
Name: G protein subunit alpha q
Symbol: GNAQ
Synonyms: lang: en
text: G-ALPHA-q
lang: en
text: GAQ
GeneType: Name: gene with protein product
Rare disease: Thrombocytopenia-absent radius syndrome (Orphanet code 3320)
Associated genes:
Name: RNA binding motif protein 8A
Symbol: RBM8A
Synonyms: lang: en
text: BOV-1A
lang: en
text: BOV-1B
lang: en
text: BOV-1C
lang: en
text: Y14
lang: en
text: ZNRP
lang: en
text: binder of OVCA1
lang: en
text: exon junction complex core component Y14
GeneType: Name: gene with protein product
Rare disease: VACTERL/VATER association (Orphanet code 887)
Associated genes:
Name: homeobox D13
Symbol: HOXD13
Synonyms: lang: en
text: synpolydactyly
GeneType: Name: gene with protein product
Rare disease: Cerebrotendinous xanthomatosis (Orphanet code 909)
Associated genes:
Name: cytochrome P450 family 27 subfamily A member 1
Symbol: CYP27A1
Synonyms: lang: en
text: CP27
lang: en
text: CTX
lang: en
text: cerebrotendinous xanthomatosis
GeneType: Name: gene with protein product
Rare disease: Weaver syndrome (Orphanet code 3447)
Associated genes:
Name: nuclear receptor binding SET domain protein 1
Symbol: NSD1
Synonyms: lang: en
text: ARA267
lang: en
text: FLJ22263
lang: en
text: KMT3B
GeneType: Name: gene with protein product
Name: enhancer of zeste 2 polycomb repressive complex 2 subunit
Symbol: EZH2
Synonyms: lang: en
text: ENX-1
lang: en
text: EZH1
lang: en
text: KMT6
lang: en
text: KMT6A
GeneType: Name: gene with protein product
Name: SUZ12 polycomb repressive complex 2 subunit
Symbol: SUZ12
Synonyms: lang: en
text: CHET9
lang: en
text: JJAZ1
lang: en
text: KIAA0160
GeneType: Name: gene with protein product
Rare disease: Chondrodysplasia-difference of sex development syndrome (Orphanet code 1422)
Associated genes:
Name: hedgehog acyltransferase
Symbol: HHAT
Synonyms: lang: en
text: FLJ10724
lang: en
text: GUP2
lang: en
text: MART-2
lang: en
text: MART2
lang: en
text: Skn
lang: en
text: protein-cysteine N-palmitoyltransferase HHAT
lang: en
text: rasp
lang: en
text: sit
lang: en
text: ski
GeneType: Name: gene with protein product
Rare disease: X-linked myopathy with postural muscle atrophy (Orphanet code 178461)
Associated genes:
Name: four and a half LIM domains 1
Symbol: FHL1
Synonyms: lang: en
text: FHL1B
lang: en
text: FLH1A
lang: en
text: Four-and-a-half LIM domains 1
lang: en
text: KYO-T
lang: en
text: LIM protein SLIMMER
lang: en
text: MGC111107
lang: en
text: SLIM1
lang: en
text: XMPMA
lang: en
text: bA535K18.1
GeneType: Name: gene with protein product
Rare disease: Hereditary myopathy with early respiratory failure (Orphanet code 178464)
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: Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation (Orphanet code 178396)
Associated genes:
Name: serpin family A member 1
Symbol: SERPINA1
Synonyms: lang: en
text: A1A
lang: en
text: A1AT
lang: en
text: AAT
lang: en
text: PI1
lang: en
text: alpha-1 antitrypsin
lang: en
text: alpha-1 proteinase inhibitor
lang: en
text: alpha-1-antitrypsin
lang: en
text: alpha1AT
lang: en
text: anti-elastase
lang: en
text: protease inhibitor 1
lang: en
text: protease inhibitor 1 (anti-elastase), alpha-1-antitrypsin
GeneType: Name: gene with protein product
Rare disease: Distal myopathy with anterior tibial onset (Orphanet code 178400)
Associated genes:
Name: dysferlin
Symbol: DYSF
Synonyms: lang: en
text: FER1L1
lang: en
text: fer-1-like family member 1
GeneType: Name: gene with protein product
Rare disease: Osteopetrosis-hypogammaglobulinemia syndrome (Orphanet code 178389)
Associated genes:
Name: TNF receptor superfamily member 11a
Symbol: TNFRSF11A
Synonyms: lang: en
text: CD265
lang: en
text: FEO
lang: en
text: ODFR
lang: en
text: RANK
lang: en
text: TRANCE receptor
lang: en
text: TRANCE-R
lang: en
text: familial expansile osteolysis
lang: en
text: osteoclast differentiation factor receptor
lang: en
text: receptor activator of nuclear factor kappa B
GeneType: Name: gene with protein product
Rare disease: Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3 (Orphanet code 62)
Associated genes:
Name: sarcoglycan alpha
Symbol: SGCA
Synonyms: lang: en
text: 50kD DAG
lang: en
text: A2
lang: en
text: DMDA2
lang: en
text: LGMD2D
lang: en
text: SCARMD1
lang: en
text: adhalin
lang: en
text: limb girdle muscular dystrophy 2D
GeneType: Name: gene with protein product
Rare disease: Syndromic microphthalmia type 5 (Orphanet code 178364)
Associated genes:
Name: orthodenticle homeobox 2
Symbol: OTX2
GeneType: Name: gene with protein product
Rare disease: Glycogen storage disease due to muscle phosphorylase kinase deficiency (Orphanet code 715)
Associated genes:
Name: phosphorylase kinase regulatory subunit alpha 1
Symbol: PHKA1
GeneType: Name: gene with protein product
Name: phosphorylase kinase catalytic subunit gamma 1
Symbol: PHKG1
GeneType: Name: gene with protein product
Rare disease: Osteosclerosis-developmental delay-craniosynostosis syndrome (Orphanet code 178377)
Associated genes:
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
Rare disease: Fructose-1,6-bisphosphatase deficiency (Orphanet code 348)
Associated genes:
Name: fructose-bisphosphatase 1
Symbol: FBP1
GeneType: Name: gene with protein product
Rare disease: Aromatase excess syndrome (Orphanet code 178345)
Associated genes:
Name: cytochrome P450 family 19 subfamily A member 1
Symbol: CYP19A1
Synonyms: lang: en
text: ARO
lang: en
text: ARO1
lang: en
text: CPV1
lang: en
text: CYAR
lang: en
text: P-450AROM
lang: en
text: aromatase
GeneType: Name: gene with protein product
Rare disease: Smith-McCort dysplasia (Orphanet code 178355)
Associated genes:
Name: dymeclin
Symbol: DYM
Synonyms: lang: en
text: DMC
lang: en
text: FLJ20071
lang: en
text: SMC
GeneType: Name: gene with protein product
Name: RAB33B, member RAS oncogene family
Symbol: RAB33B
Synonyms: lang: en
text: DKFZP434G099
GeneType: Name: gene with protein product
Rare disease: UV-sensitive syndrome (Orphanet code 178338)
Associated genes:
Name: ERCC excision repair 6, chromatin remodeling factor
Symbol: ERCC6
Synonyms: lang: en
text: ARMD5
lang: en
text: CSB
lang: en
text: Cockayne syndrome B protein
lang: en
text: RAD26
GeneType: Name: gene with protein product
Name: ERCC excision repair 8, CSA ubiquitin ligase complex subunit
Symbol: ERCC8
Synonyms: lang: en
text: CSA
GeneType: Name: gene with protein product
Name: UV stimulated scaffold protein A
Symbol: UVSSA
GeneType: Name: gene with protein product
Rare disease: Inflammatory myofibroblastic tumor (Orphanet code 178342)
Associated genes:
Name: tropomyosin 3
Symbol: TPM3
Synonyms: lang: en
text: TRK
GeneType: Name: gene with protein product
Name: ALK receptor tyrosine kinase
Symbol: ALK
Synonyms: lang: en
text: ALK1
lang: en
text: CD246
GeneType: Name: gene with protein product
Name: RAN binding protein 2
Symbol: RANBP2
Synonyms: lang: en
text: ADANE
lang: en
text: NUP358
lang: en
text: nucleoporin 358
GeneType: Name: gene with protein product
Name: clathrin heavy chain
Symbol: CLTC
Synonyms: lang: en
text: Hc
GeneType: Name: gene with protein product
Name: cysteinyl-tRNA synthetase 1
Symbol: CARS1
Synonyms: lang: en
text: CARS1
lang: en
text: Cysteine tRNA ligase 1, cytoplasmic
lang: en
text: cysteine tRNA ligase 1, cytoplasmic
GeneType: Name: gene with protein product
Name: tropomyosin 4
Symbol: TPM4
GeneType: Name: gene with protein product
Rare disease: Behçet disease (Orphanet code 117)
Associated genes:
Name: interleukin 10
Symbol: IL10
Synonyms: lang: en
text: CSIF
lang: en
text: IL-10
lang: en
text: IL10A
lang: en
text: T-cell growth inhibitory factor
lang: en
text: TGIF
lang: en
text: cytokine synthesis inhibitory factor
GeneType: Name: gene with protein product
Name: major histocompatibility complex, class I, B
Symbol: HLA-B
GeneType: Name: gene with protein product
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: UBA domain containing 2
Symbol: UBAC2
Synonyms: lang: en
text: FLJ30548
lang: en
text: RP11-178C10.1
GeneType: Name: gene with protein product
Name: interleukin 23 receptor
Symbol: IL23R
Synonyms: lang: en
text: IL-23R
GeneType: Name: gene with protein product
Name: MEFV innate immunity regulator, pyrin
Symbol: MEFV
Synonyms: lang: en
text: FMF
lang: en
text: TRIM20
lang: en
text: marenostrin
GeneType: Name: gene with protein product
Name: signal transducer and activator of transcription 4
Symbol: STAT4
GeneType: Name: gene with protein product
Name: complement C4A (Chido/Rodgers blood group)
Symbol: C4A
Synonyms: lang: en
text: C4
lang: en
text: C4A2
lang: en
text: C4A3
lang: en
text: C4A4
lang: en
text: C4A6
lang: en
text: C4B
lang: en
text: C4S
lang: en
text: CO4
lang: en
text: CPAMD2
lang: en
text: RG
GeneType: Name: gene with protein product
Name: interleukin 12A
Symbol: IL12A
Synonyms: lang: en
text: CLMF
lang: en
text: IL-12, subunit p35
lang: en
text: IL-12A
lang: en
text: IL35 subunit
lang: en
text: NF cell stimulatory factor chain 1
lang: en
text: NFSK
lang: en
text: cytotoxic lymphocyte maturation factor 1, p35
lang: en
text: interleukin 12, p35
lang: en
text: interleukin-12 alpha chain
lang: en
text: natural killer cell stimulatory factor 1, 35 kD subunit
lang: en
text: p35
GeneType: Name: gene with protein product
Name: toll like receptor 4
Symbol: TLR4
Synonyms: lang: en
text: ARMD10
lang: en
text: CD284
lang: en
text: TLR-4
lang: en
text: hToll
GeneType: Name: gene with protein product
Name: C-C motif chemokine receptor 1
Symbol: CCR1
Synonyms: lang: en
text: CD191
lang: en
text: CKR-1
lang: en
text: MIP1aR
GeneType: Name: gene with protein product
Name: killer cell lectin like receptor C4
Symbol: KLRC4
Synonyms: lang: en
text: NKG2-F
GeneType: Name: gene with protein product
Name: IL12A antisense RNA 1
Symbol: IL12A-AS1
Synonyms: lang: en
text: ILAS1-AS1
GeneType: Name: Non-coding RNA
Name: endoplasmic reticulum aminopeptidase 1
Symbol: ERAP1
Synonyms: lang: en
text: A-LAP
lang: en
text: ARTS-1
lang: en
text: ERAAP1
lang: en
text: KIAA0525
lang: en
text: PILS-AP
lang: en
text: adipocyte-derived leucine aminopeptidase
lang: en
text: aminopeptidase regulator of TNFR1 shedding
lang: en
text: puromycin-insensitive leucyl-specific aminopeptidase
GeneType: Name: gene with protein product
Name: interferon gamma receptor 1
Symbol: IFNGR1
Synonyms: lang: en
text: CD119
GeneType: Name: gene with protein product
Rare disease: Perry syndrome (Orphanet code 178509)
Associated genes:
Name: dynactin subunit 1
Symbol: DCTN1
Synonyms: lang: en
text: p150 glued homolog (Drosophila)
GeneType: Name: gene with protein product
Rare disease: Brain calcification, Rajab type (Orphanet code 178506)
Associated genes:
Name: phenylalanyl-tRNA synthetase subunit beta
Symbol: FARSB
Synonyms: lang: en
text: FRSB
lang: en
text: PheHB
lang: en
text: phenylalanine tRNA ligase 1, beta, cytoplasmic
GeneType: Name: gene with protein product
Rare disease: Bleeding disorder in hemophilia A carriers (Orphanet code 177926)
Associated genes:
Name: coagulation factor VIII
Symbol: F8
Synonyms: lang: en
text: DXS1253E
lang: en
text: FVIII
lang: en
text: Factor VIIIF8B
lang: en
text: HEMA
lang: en
text: hemophilia A
GeneType: Name: gene with protein product
Rare disease: Bleeding disorder in hemophilia B carriers (Orphanet code 177929)
Associated genes:
Name: coagulation factor IX
Symbol: F9
Synonyms: lang: en
text: Christmas disease
lang: en
text: FIX
lang: en
text: Factor IX
lang: en
text: hemophilia B
lang: en
text: plasma thromboplastic component
GeneType: Name: gene with protein product
Rare disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 (Orphanet code 177901)
Associated genes:
Name: small nucleolar RNA, C/D box 115 cluster
Symbol: SNORD115@
Synonyms: lang: en
text: HBII-52
GeneType: Name: Non-coding RNA
Name: small nuclear ribonucleoprotein polypeptide N
Symbol: SNRPN
Synonyms: lang: en
text: HCERN3
lang: en
text: RT-LI
lang: en
text: SM protein N
lang: en
text: SM-D
lang: en
text: SMN
lang: en
text: SNRNP-N
lang: en
text: SNURF-SNRPN
lang: en
text: small nuclear ribonucleoprotein N
lang: en
text: tissue-specific splicing protein
GeneType: Name: gene with protein product
Name: MAGE family member L2
Symbol: MAGEL2
Synonyms: lang: en
text: nM15
GeneType: Name: gene with protein product
Name: necdin, MAGE family member
Symbol: NDN
Synonyms: lang: en
text: HsT16328
lang: en
text: PWCR
lang: en
text: Prader-Willi syndrome chromosome region
GeneType: Name: gene with protein product
Name: OCA2 melanosomal transmembrane protein
Symbol: OCA2
Synonyms: lang: en
text: BEY
lang: en
text: BEY1
lang: en
text: BEY2
lang: en
text: EYCL
lang: en
text: P-protein
lang: en
text: melanocyte-specific transporter protein
GeneType: Name: gene with protein product
Name: small nucleolar RNA, C/D box 116 cluster
Symbol: SNORD116@
Synonyms: lang: en
text: HBII-85
lang: en
text: PET1
GeneType: Name: Non-coding RNA
Rare disease: Malignant hyperthermia of anesthesia (Orphanet code 423)
Associated genes:
Name: calcium voltage-gated channel subunit alpha1 S
Symbol: CACNA1S
Synonyms: lang: en
text: Cav1.1
lang: en
text: hypoPP
GeneType: Name: gene with protein product
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