TaoMedAI/RareMedData huggingface dataset:
Rare disease: Uveal melanoma (Orphanet code 39044)
Associated genes:
Name: cysteinyl leukotriene receptor 2
Symbol: CYSLTR2
Synonyms: lang: en
text: CYSLT2R
lang: en
text: CysLT(2)
GeneType: Name: gene with protein product
Name: BRCA1 associated protein 1
Symbol: BAP1
Synonyms: lang: en
text: KIAA0272
lang: en
text: UCHL2
lang: en
text: hucep-6
lang: en
text: ubiquitin carboxy-terminal hydrolase
GeneType: Name: gene with protein product
Name: BRCA1 associated protein 1
Symbol: BAP1
Synonyms: lang: en
text: KIAA0272
lang: en
text: UCHL2
lang: en
text: hucep-6
lang: en
text: ubiquitin carboxy-terminal hydrolase
GeneType: Name: gene with protein product
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
Name: G protein subunit alpha 11
Symbol: GNA11
Synonyms: lang: en
text: FBH
lang: en
text: FBH2
lang: en
text: FHH2
GeneType: Name: gene with protein product
Name: splicing factor 3b subunit 1
Symbol: SF3B1
Synonyms: lang: en
text: Hsh155
lang: en
text: PRPF10
lang: en
text: Prp10
lang: en
text: SAP155
lang: en
text: SF3b155
GeneType: Name: gene with protein product
Rare disease: RELA fusion-positive ependymoma (Orphanet code 530792)
Associated genes:
Name: zinc finger translocation associated
Symbol: ZFTA
Synonyms: lang: en
text: MGC3032
GeneType: Name: gene with protein product
Name: RELA proto-oncogene, NF-kB subunit
Symbol: RELA
Synonyms: lang: en
text: p65
GeneType: Name: gene with protein product
Rare disease: Dihydropyrimidinuria (Orphanet code 38874)
Associated genes:
Name: dihydropyrimidinase
Symbol: DPYS
Synonyms: lang: en
text: DHPase
GeneType: Name: gene with protein product
Rare disease: Progressive dementia with neuroserpin inclusion bodies (Orphanet code 530303)
Associated genes:
Name: serpin family I member 1
Symbol: SERPINI1
Synonyms: lang: en
text: neuroserpin
GeneType: Name: gene with protein product
Rare disease: Episodic ataxia type 1 (Orphanet code 37612)
Associated genes:
Name: potassium voltage-gated channel subfamily A member 1
Symbol: KCNA1
Synonyms: lang: en
text: HUK1
lang: en
text: Kv1.1
lang: en
text: MBK1
lang: en
text: RBK1
GeneType: Name: gene with protein product
Rare disease: Andersen-Tawil syndrome (Orphanet code 37553)
Associated genes:
Name: potassium inwardly rectifying channel subfamily J member 2
Symbol: KCNJ2
Synonyms: lang: en
text: IRK1
lang: en
text: Kir2.1
lang: en
text: LQT7
GeneType: Name: gene with protein product
Name: potassium inwardly rectifying channel subfamily J member 5
Symbol: KCNJ5
Synonyms: lang: en
text: CIR
lang: en
text: G protein-activated inward rectifier potassium channel 4
lang: en
text: GIRK4
lang: en
text: KATP1
lang: en
text: Kir3.4
lang: en
text: LQT13
GeneType: Name: gene with protein product
Rare disease: Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome (Orphanet code 37042)
Associated genes:
Name: forkhead box P3
Symbol: FOXP3
Synonyms: lang: en
text: AIID
lang: en
text: DIETER
lang: en
text: JM2
lang: en
text: PIDX
lang: en
text: SCURFIN
lang: en
text: XPID
GeneType: Name: gene with protein product
Rare disease: Myoclonus-dystonia syndrome (Orphanet code 36899)
Associated genes:
Name: sarcoglycan epsilon
Symbol: SGCE
GeneType: Name: gene with protein product
Name: torsin family 1 member A
Symbol: TOR1A
Synonyms: lang: en
text: DQ2
lang: en
text: torsin A
lang: en
text: torsin-1A
lang: en
text: torsinA
GeneType: Name: gene with protein product
Name: dopamine receptor D2
Symbol: DRD2
Synonyms: lang: en
text: D2R
lang: en
text: dopamine D2 receptor
GeneType: Name: gene with protein product
Name: dystonia 15, myoclonic
Symbol: DYT15
GeneType: Name: Disorder-associated locus
Name: potassium channel tetramerization domain containing 17
Symbol: KCTD17
Synonyms: lang: en
text: FLJ12242
GeneType: Name: gene with protein product
Rare disease: Bietti crystalline dystrophy (Orphanet code 41751)
Associated genes:
Name: cytochrome P450 family 4 subfamily V member 2
Symbol: CYP4V2
Synonyms: lang: en
text: CYP4AH1
GeneType: Name: gene with protein product
Rare disease: Iminoglycinuria (Orphanet code 42062)
Associated genes:
Name: solute carrier family 6 member 20
Symbol: SLC6A20
Synonyms: lang: en
text: IMINO
lang: en
text: SIT1
lang: en
text: XT3
lang: en
text: Xtrp3
lang: en
text: sodium-dependent imino acid transporter 1
GeneType: Name: gene with protein product
Name: solute carrier family 36 member 2
Symbol: SLC36A2
Synonyms: lang: en
text: PAT2
lang: en
text: TRAMD1
lang: en
text: tramdorin
GeneType: Name: gene with protein product
Name: solute carrier family 6 member 18
Symbol: SLC6A18
Synonyms: lang: en
text: FLJ31236
lang: en
text: Xtrp2
GeneType: Name: gene with protein product
Name: solute carrier family 6 member 19
Symbol: SLC6A19
Synonyms: lang: en
text: B0AT1
lang: en
text: Hartnup disease
lang: en
text: Sodium-dependent neutral amino acid transporter B(0)AT1
lang: en
text: broad neutral amino acid transporter 1
GeneType: Name: gene with protein product
Rare disease: Glutaric acidemia type 3 (Orphanet code 35706)
Associated genes:
Name: succinyl-CoA:glutarate-CoA transferase
Symbol: SUGCT
Synonyms: lang: en
text: DERP13
lang: en
text: FLJ11808
lang: en
text: ORF19
lang: en
text: Russel-Silver syndrome candidate
lang: en
text: dermal papilla derived protein 13
lang: en
text: succinate-hydroxymethylglutarate CoA-transferase
GeneType: Name: gene with protein product
Rare disease: L-Arginine:glycine amidinotransferase deficiency (Orphanet code 35704)
Associated genes:
Name: glycine amidinotransferase
Symbol: GATM
Synonyms: lang: en
text: AGAT
lang: en
text: L-arginine:glycine amidinotransferase
GeneType: Name: gene with protein product
Rare disease: Glucose-galactose malabsorption (Orphanet code 35710)
Associated genes:
Name: solute carrier family 5 member 1
Symbol: SLC5A1
Synonyms: lang: en
text: D22S675
lang: en
text: NAGT
lang: en
text: SGLT-1
lang: en
text: sodium/glucose cotransporter 1
GeneType: Name: gene with protein product
Rare disease: Morning glory disc anomaly (Orphanet code 35737)
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: Aromatic L-amino acid decarboxylase deficiency (Orphanet code 35708)
Associated genes:
Name: dopa decarboxylase
Symbol: DDC
Synonyms: lang: en
text: AADC
lang: en
text: aromatic L-amino acid decarboxylase
GeneType: Name: gene with protein product
Rare disease: Primary lateral sclerosis (Orphanet code 35689)
Associated genes:
Name: SPG7 matrix AAA peptidase subunit, paraplegin
Symbol: SPG7
Synonyms: lang: en
text: CAR
lang: en
text: SPG5C
lang: en
text: paraplegin
GeneType: Name: gene with protein product
Rare disease: 3-hydroxy-3-methylglutaryl-CoA synthase deficiency (Orphanet code 35701)
Associated genes:
Name: 3-hydroxy-3-methylglutaryl-CoA synthase 2
Symbol: HMGCS2
GeneType: Name: gene with protein product
Rare disease: Nanophthalmos (Orphanet code 35612)
Associated genes:
Name: membrane frizzled-related protein
Symbol: MFRP
Synonyms: lang: en
text: C1QTNF5
lang: en
text: C1q and TNF related 5
lang: en
text: FLJ30570
lang: en
text: NNO2
lang: en
text: membrane-type frizzled-related protein
lang: en
text: rd6
GeneType: Name: gene with protein product
Name: transmembrane protein 98
Symbol: TMEM98
Synonyms: lang: en
text: DKFZP564K1964
GeneType: Name: gene with protein product
Name: orthodenticle homeobox 2
Symbol: OTX2
GeneType: Name: gene with protein product
Name: SIX homeobox 6
Symbol: SIX6
Synonyms: lang: en
text: Six9
GeneType: Name: gene with protein product
Name: retina and anterior neural fold homeobox
Symbol: RAX
Synonyms: lang: en
text: RAX1
lang: en
text: RX
lang: en
text: retinal homeobox protein Rx
GeneType: Name: gene with protein product
Name: aldehyde dehydrogenase 1 family member A3
Symbol: ALDH1A3
Synonyms: lang: en
text: RALDH3
lang: en
text: Retinaldehyde dehydrogenase 3
lang: en
text: retinaldehyde dehydrogenase 3
GeneType: Name: gene with protein product
Name: serine protease 56
Symbol: PRSS56
GeneType: Name: gene with protein product
Name: SRY-box transcription factor 2
Symbol: SOX2
GeneType: Name: gene with protein product
Name: bestrophin 1
Symbol: BEST1
Synonyms: lang: en
text: BEST
lang: en
text: BMD
lang: en
text: Best disease
lang: en
text: RP50
GeneType: Name: gene with protein product
Name: crumbs cell polarity complex component 1
Symbol: CRB1
Synonyms: lang: en
text: LCA8
GeneType: Name: gene with protein product
Rare disease: X-linked dominant chondrodysplasia punctata (Orphanet code 35173)
Associated genes:
Name: EBP cholestenol delta-isomerase
Symbol: EBP
Synonyms: lang: en
text: 3-beta-hydroxysteroid-delta-8,delta-7-isomerase
lang: en
text: CHO2
lang: en
text: CPX
lang: en
text: CPXD
lang: en
text: Chondrodysplasia punctata-2, X-linked dominant (Happle syndrome)
lang: en
text: sterol 8-isomerase
GeneType: Name: gene with protein product
Rare disease: ALDH18A1-related De Barsy syndrome (Orphanet code 35664)
Associated genes:
Name: aldehyde dehydrogenase 18 family member A1
Symbol: ALDH18A1
Synonyms: lang: en
text: P5CS
lang: en
text: delta-1-pyrroline-5-carboxylate synthase
GeneType: Name: gene with protein product
Rare disease: Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency (Orphanet code 35120)
Associated genes:
Name: 5'-nucleotidase, cytosolic IIIA
Symbol: NT5C3A
Synonyms: lang: en
text: P5'N-1
lang: en
text: PN-I
lang: en
text: POMP
lang: en
text: PSN1
lang: en
text: UMPH
lang: en
text: UMPH1
lang: en
text: cN-III
lang: en
text: hUMP1
lang: en
text: lupin
lang: en
text: p36
GeneType: Name: gene with protein product
Rare disease: Desmosterolosis (Orphanet code 35107)
Associated genes:
Name: 24-dehydrocholesterol reductase
Symbol: DHCR24
Synonyms: lang: en
text: 3beta-hydroxysterol delta24 reductase
lang: en
text: Delta(24)-sterol reductase
lang: en
text: KIAA0018
lang: en
text: seladin-1
GeneType: Name: gene with protein product
Rare disease: Non-syndromic bicoronal craniosynostosis (Orphanet code 35099)
Associated genes:
Name: fibroblast growth factor receptor 3
Symbol: FGFR3
Synonyms: lang: en
text: CD333
lang: en
text: CEK2
lang: en
text: JTK4
GeneType: Name: gene with protein product
Name: Zic family member 1
Symbol: ZIC1
Synonyms: lang: en
text: ZIC
lang: en
text: ZNF201
GeneType: Name: gene with protein product
Name: transcription factor 12
Symbol: TCF12
Synonyms: lang: en
text: HEB
lang: en
text: HTF4
lang: en
text: Helix-loop-helix transcription factor 4
lang: en
text: HsT17266
lang: en
text: bHLHb20
lang: en
text: helix-loop-helix transcription factor 4
lang: en
text: p64
GeneType: Name: gene with protein product
Name: twist family bHLH transcription factor 1
Symbol: TWIST1
Synonyms: lang: en
text: BPES2
lang: en
text: CRS1
lang: en
text: H-twist
lang: en
text: SCS
lang: en
text: Saethre-Chotzen syndrome
lang: en
text: bHLHa38
GeneType: Name: gene with protein product
Rare disease: Congenital sucrase-isomaltase deficiency (Orphanet code 35122)
Associated genes:
Name: sucrase-isomaltase
Symbol: SI
Synonyms: lang: en
text: Alpha-methylglucosidase
lang: en
text: Oligo-1,6-glucosidase
lang: en
text: Oligosaccharide alpha-1,6-glucosidase
lang: en
text: alpha-glucosidase
GeneType: Name: gene with protein product
Rare disease: Generalized epilepsy with febrile seizures-plus (Orphanet code 36387)
Associated genes:
Name: hyperpolarization activated cyclic nucleotide gated potassium channel 1
Symbol: HCN1
Synonyms: lang: en
text: BCNG-1
lang: en
text: HAC-2
GeneType: Name: gene with protein product
Name: fibroblast growth factor 13
Symbol: FGF13
Synonyms: lang: en
text: FGF2
lang: en
text: FHF2
lang: en
text: FLJ30672
lang: en
text: fibroblast growth factor homologous factor 2
GeneType: Name: gene with protein product
Name: sodium voltage-gated channel alpha subunit 1
Symbol: SCN1A
Synonyms: lang: en
text: GEFSP2
lang: en
text: HBSCI
lang: en
text: NAC1
lang: en
text: Nav1.1
lang: en
text: SMEI
GeneType: Name: gene with protein product
Name: sodium voltage-gated channel beta subunit 1
Symbol: SCN1B
GeneType: Name: gene with protein product
Name: sodium voltage-gated channel alpha subunit 2
Symbol: SCN2A
Synonyms: lang: en
text: HBSCI
lang: en
text: HBSCII
lang: en
text: Nav1.2
GeneType: Name: gene with protein product
Name: sodium voltage-gated channel alpha subunit 9
Symbol: SCN9A
Synonyms: lang: en
text: ETHA
lang: en
text: NE-NA
lang: en
text: NENA
lang: en
text: Nav1.7
lang: en
text: PN1
GeneType: Name: gene with protein product
Name: gamma-aminobutyric acid type A receptor subunit delta
Symbol: GABRD
Synonyms: lang: en
text: GABA(A) receptor, delta
lang: en
text: GABAARdelta
GeneType: Name: gene with protein product
Name: gamma-aminobutyric acid type A receptor subunit gamma2
Symbol: GABRG2
Synonyms: lang: en
text: GABA(A) receptor, gamma 2
GeneType: Name: gene with protein product
Name: syntaxin 1B
Symbol: STX1B
GeneType: Name: gene with protein product
Name: proline rich transmembrane protein 2
Symbol: PRRT2
Synonyms: lang: en
text: DKFZp547J199
lang: en
text: DSPB3
lang: en
text: EKD1
lang: en
text: Episodic kinesigenic dyskinesia 1
lang: en
text: FICCA
lang: en
text: FLJ25513
lang: en
text: IFITMD1
lang: en
text: Interferon induced transmembrane protein domain containing 1
lang: en
text: PKC
lang: en
text: Paroxysmal kinesigenic dyskinesia
lang: en
text: dispanin subfamily B member 3
lang: en
text: interferon induced transmembrane protein domain containing 1
GeneType: Name: gene with protein product
Name: adhesion G protein-coupled receptor V1
Symbol: ADGRV1
Synonyms: lang: en
text: DKFZp761P0710
lang: en
text: FEB4
lang: en
text: KIAA0686
lang: en
text: VLGR1
GeneType: Name: gene with protein product
Rare disease: Hypocomplementemic urticarial vasculitis (Orphanet code 36412)
Associated genes:
Name: deoxyribonuclease 1L3
Symbol: DNASE1L3
Synonyms: lang: en
text: D3
lang: en
text: DNAS1L3
lang: en
text: DNase gamma
lang: en
text: DNaseY
lang: en
text: LS-DNase
lang: en
text: LSD
GeneType: Name: gene with protein product
Rare disease: Stevens-Johnson syndrome (Orphanet code 36426)
Associated genes:
Name: major histocompatibility complex, class I, B
Symbol: HLA-B
GeneType: Name: gene with protein product
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: Bleeding disorder due to P2Y12 defect (Orphanet code 36355)
Associated genes:
Name: purinergic receptor P2Y12
Symbol: P2RY12
Synonyms: lang: en
text: HORK3
lang: en
text: P2Y12
lang: en
text: SP1999
GeneType: Name: gene with protein product
Rare disease: Distal deletion 1q (Orphanet code 36367)
Associated genes:
Name: zinc finger and BTB domain containing 18
Symbol: ZBTB18
Synonyms: lang: en
text: C2H2-171
lang: en
text: RP58
lang: en
text: TAZ-1
GeneType: Name: gene with protein product
Rare disease: COL4A1/2-related familial vascular leukoencephalopathy (Orphanet code 36383)
Associated genes:
Name: collagen type IV alpha 1 chain
Symbol: COL4A1
GeneType: Name: gene with protein product
Rare disease: Hereditary sensory and autonomic neuropathy type 1 (Orphanet code 36386)
Associated genes:
Name: atlastin GTPase 1
Symbol: ATL1
Synonyms: lang: en
text: AD-FSP
lang: en
text: FSP1
lang: en
text: atlastin
GeneType: Name: gene with protein product
Name: serine palmitoyltransferase long chain base subunit 1
Symbol: SPTLC1
Synonyms: lang: en
text: HSAN1
lang: en
text: LCB1
lang: en
text: SPTI
lang: en
text: hLCB1
GeneType: Name: gene with protein product
Name: serine palmitoyltransferase long chain base subunit 2
Symbol: SPTLC2
Synonyms: lang: en
text: KIAA0526
lang: en
text: LCB2
lang: en
text: LCB2A
lang: en
text: hLCB2a
GeneType: Name: gene with protein product
Name: atlastin GTPase 3
Symbol: ATL3
Synonyms: lang: en
text: DKFZP564J0863
GeneType: Name: gene with protein product
Rare disease: Hyperinsulinism-hyperammonemia syndrome (Orphanet code 35878)
Associated genes:
Name: glutamate dehydrogenase 1
Symbol: GLUD1
Synonyms: lang: en
text: GDH
lang: en
text: GDH1
lang: en
text: hGDH1
GeneType: Name: gene with protein product
Rare disease: Imerslund-Gräsbeck syndrome (Orphanet code 35858)
Associated genes:
Name: amnion associated transmembrane protein
Symbol: AMN
Synonyms: lang: en
text: amnionless
GeneType: Name: gene with protein product
Name: cubilin
Symbol: CUBN
Synonyms: lang: en
text: IFCR
lang: en
text: gp280
lang: en
text: intrinsic factor-cobalamin receptor
GeneType: Name: gene with protein product
Rare disease: Combined deficiency of factor V and factor VIII (Orphanet code 35909)
Associated genes:
Name: multiple coagulation factor deficiency 2, ER cargo receptor complex subunit
Symbol: MCFD2
Synonyms: lang: en
text: F5F8D
lang: en
text: LMAN1IP
lang: en
text: SDNSF
GeneType: Name: gene with protein product
Name: lectin, mannose binding 1
Symbol: LMAN1
Synonyms: lang: en
text: ERGIC-53
lang: en
text: ERGIC53
lang: en
text: FMFD1
lang: en
text: MCFD1
lang: en
text: MR60
lang: en
text: endoplasmic reticulum-golgi intermediate compartment protein 53
lang: en
text: gp58
GeneType: Name: gene with protein product
Rare disease: 5-oxoprolinase deficiency (Orphanet code 33572)
Associated genes:
Name: 5-oxoprolinase, ATP-hydrolysing
Symbol: OPLAH
Synonyms: lang: en
text: 5-Opase
lang: en
text: OPLA
GeneType: Name: gene with protein product
Rare disease: Kleine-Levin syndrome (Orphanet code 33543)
Associated genes:
Name: tetratricopeptide repeat and ankyrin repeat containing 1
Symbol: TRANK1
Synonyms: lang: en
text: KIAA0342
lang: en
text: LBA1
lang: en
text: lupus brain antigen 1
GeneType: Name: gene with protein product
Rare disease: Neuroectodermal melanolysosomal disease (Orphanet code 33445)
Associated genes:
Name: myosin VA
Symbol: MYO5A
Synonyms: lang: en
text: GS1
lang: en
text: MYO5
lang: en
text: MYR12
lang: en
text: Unconventional myosin-Va
lang: en
text: myosin V
lang: en
text: myosin heavy chain 12
lang: en
text: myosin, heavy polypeptide kinase
lang: en
text: myoxin
GeneType: Name: gene with protein product
Rare disease: Familial GPIHBP1 deficiency (Orphanet code 535458)
Associated genes:
Name: glycosylphosphatidylinositol anchored high density lipoprotein binding protein 1
Symbol: GPIHBP1
Synonyms: lang: en
text: GPI-HBP1
lang: en
text: LOC338328
lang: en
text: endothelial cell LPL transporter
GeneType: Name: gene with protein product
Rare disease: Pediatric hepatocellular carcinoma (Orphanet code 33402)
Associated genes:
Name: MET proto-oncogene, receptor tyrosine kinase
Symbol: MET
Synonyms: lang: en
text: DFNB97
lang: en
text: HGFR
lang: en
text: RCCP2
lang: en
text: hepatocyte growth factor receptor
GeneType: Name: gene with protein product
Name: catenin beta 1
Symbol: CTNNB1
Synonyms: lang: en
text: armadillo
lang: en
text: beta-catenin
GeneType: Name: gene with protein product
Rare disease: Naxos disease (Orphanet code 34217)
Associated genes:
Name: junction plakoglobin
Symbol: JUP
Synonyms: lang: en
text: DP3
lang: en
text: DPIII
lang: en
text: PDGB
lang: en
text: PG
lang: en
text: PKGB
lang: en
text: desmosomal protein 3
GeneType: Name: gene with protein product
Rare disease: Glutamate-cysteine ligase deficiency (Orphanet code 33574)
Associated genes:
Name: glutamate-cysteine ligase catalytic subunit
Symbol: GCLC
Synonyms: lang: en
text: GCS
GeneType: Name: gene with protein product
Rare disease: Gamma-glutamyl transpeptidase deficiency (Orphanet code 33573)
Associated genes:
Name: gamma-glutamyltransferase 1
Symbol: GGT1
Synonyms: lang: en
text: CD224
lang: en
text: D22S672
lang: en
text: D22S732
GeneType: Name: gene with protein product
Rare disease: Autosomal agammaglobulinemia (Orphanet code 33110)
Associated genes:
Name: solute carrier family 39 member 7
Symbol: SLC39A7
Synonyms: lang: en
text: D6S2244E
lang: en
text: H2-KE4
lang: en
text: KE4
lang: en
text: RING5
lang: en
text: ZIP7
lang: en
text: ZRT/IRT-like protein 7
lang: en
text: zinc transporter 7
GeneType: Name: gene with protein product
Name: Spi-1 proto-oncogene
Symbol: SPI1
Synonyms: lang: en
text: 31 kDa transforming protein
lang: en
text: OF
lang: en
text: PU.1
lang: en
text: SFPI1
lang: en
text: SPI-1
lang: en
text: SPI-A
lang: en
text: hematopoietic transcription factor PU.1
GeneType: Name: gene with protein product
Name: immunoglobulin heavy constant mu
Symbol: IGHM
GeneType: Name: gene with protein product
Name: immunoglobulin lambda like polypeptide 1
Symbol: IGLL1
Synonyms: lang: en
text: 14.1
lang: en
text: CD179B
lang: en
text: IGL5
lang: en
text: IGVPB
lang: en
text: lambda 5
GeneType: Name: gene with protein product
Name: leucine rich repeat containing 8 VRAC subunit A
Symbol: LRRC8A
Synonyms: lang: en
text: FLJ10337
lang: en
text: KIAA1437
lang: en
text: SWELL1
GeneType: Name: gene with protein product
Name: transcription factor 3
Symbol: TCF3
Synonyms: lang: en
text: E2A
lang: en
text: E2A immunoglobulin enhancer-binding factor E12/E47
lang: en
text: E47
lang: en
text: ITF1
lang: en
text: MGC129647
lang: en
text: MGC129648
lang: en
text: VDIR
lang: en
text: VDR interacting repressor
lang: en
text: bHLHb21
lang: en
text: immunoglobulin transcription factor 1
lang: en
text: kappa-E2-binding factor
lang: en
text: p75
lang: en
text: transcription factor E2-alpha
GeneType: Name: gene with protein product
Name: CD79a molecule
Symbol: CD79A
Synonyms: lang: en
text: B-cell antigen receptor complex-associated protein alpha chain
lang: en
text: IGAlpha
lang: en
text: Ig-alpha
lang: en
text: MB-1
lang: en
text: MB1
GeneType: Name: gene with protein product
Name: CD79b molecule
Symbol: CD79B
Synonyms: lang: en
text: B-cell antigen receptor complex-associated protein beta chain
lang: en
text: B29
lang: en
text: Ig-beta
lang: en
text: Igbeta
GeneType: Name: gene with protein product
Name: B cell linker
Symbol: BLNK
Synonyms: lang: en
text: B cell adaptor containing SH2 domain
lang: en
text: B-cell activation
lang: en
text: B-cell adapter containing a SH2 domain protein
lang: en
text: BASH
lang: en
text: BLNK-s
lang: en
text: Ly57
lang: en
text: SLP-65
lang: en
text: SLP65
lang: en
text: Src homology [SH2] domain-containing leukocyte protein of 65 kD
lang: en
text: bca
GeneType: Name: gene with protein product
Name: phosphoinositide-3-kinase regulatory subunit 1
Symbol: PIK3R1
Synonyms: lang: en
text: GRB1
lang: en
text: PI3 kinase-associated p85
lang: en
text: growth factor receptor bound 1
lang: en
text: p85
lang: en
text: p85-ALPHA
lang: en
text: p85alpha
lang: en
text: phosphoinositide-3-kinase regulatory subunit alpha
GeneType: Name: gene with protein product
Rare disease: Lethal multiple pterygium syndrome (Orphanet code 33108)
Associated genes:
Name: nebulin
Symbol: NEB
Synonyms: lang: en
text: NEB177D
lang: en
text: nemaline myopathy type 2
GeneType: Name: gene with protein product
Name: receptor associated protein of the synapse
Symbol: RAPSN
Synonyms: lang: en
text: CMS1D
lang: en
text: CMS1E
lang: en
text: RNF205
lang: en
text: rapsyn
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
Name: cholinergic receptor nicotinic alpha 1 subunit
Symbol: CHRNA1
Synonyms: lang: en
text: acetylcholine receptor, nicotinic, alpha 1 (muscle)
GeneType: Name: gene with protein product
Name: cholinergic receptor nicotinic delta subunit
Symbol: CHRND
Synonyms: lang: en
text: acetylcholine receptor, nicotinic, delta (muscle)
GeneType: Name: gene with protein product
Name: cholinergic receptor nicotinic gamma subunit
Symbol: CHRNG
Synonyms: lang: en
text: acetylcholine receptor, nicotinic, gamma (muscle)
GeneType: Name: gene with protein product
Rare disease: Metaphyseal chondrodysplasia, Jansen type (Orphanet code 33067)
Associated genes:
Name: parathyroid hormone 1 receptor
Symbol: PTH1R
GeneType: Name: gene with protein product