TaoMedAI/RareMedData huggingface dataset:
Rare disease: Keutel syndrome (Orphanet code 85202)
Associated genes:
Name: matrix Gla protein
Symbol: MGP
GeneType: Name: gene with protein product
Rare disease: Fetal Gaucher disease (Orphanet code 85212)
Associated genes:
Name: glucosylceramidase beta 1
Symbol: GBA1
Synonyms: lang: en
text: GBA1
lang: en
text: glucocerebrosidase
GeneType: Name: gene with protein product
Rare disease: X-linked intellectual disability, Cantagrel type (Orphanet code 85277)
Associated genes:
Name: neurite extension and migration factor
Symbol: NEXMIF
Synonyms: lang: en
text: KIDLIA
lang: en
text: MRX98
lang: en
text: XLMR-related protein, neurite extension
lang: en
text: XPN
GeneType: Name: gene with protein product
Rare disease: Christianson syndrome (Orphanet code 85278)
Associated genes:
Name: solute carrier family 9 member A6
Symbol: SLC9A6
Synonyms: lang: en
text: KIAA0267
lang: en
text: NHE-6
lang: en
text: NHE6
lang: en
text: Sodium/hydrogen exchanger 6
GeneType: Name: gene with protein product
Rare disease: KDM5C-related syndromic X-linked intellectual disability (Orphanet code 85279)
Associated genes:
Name: lysine demethylase 5C
Symbol: KDM5C
Synonyms: lang: en
text: DXS1272E
lang: en
text: XE169
GeneType: Name: gene with protein product
Rare disease: MEHMO syndrome (Orphanet code 85282)
Associated genes:
Name: eukaryotic translation initiation factor 2 subunit gamma
Symbol: EIF2S3
Synonyms: lang: en
text: EIF2
lang: en
text: EIF2gamma
lang: en
text: eukaryotic translation initiation factor 2G
GeneType: Name: gene with protein product
Rare disease: BRESEK syndrome (Orphanet code 85284)
Associated genes:
Name: membrane bound transcription factor peptidase, site 2
Symbol: MBTPS2
Synonyms: lang: en
text: S2P
lang: en
text: site-2 protease
lang: en
text: sterol regulatory element-binding proteins intramembrane protease
GeneType: Name: gene with protein product
Rare disease: X-linked intellectual disability, Shashi type (Orphanet code 85286)
Associated genes:
Name: RNA binding motif protein X-linked
Symbol: RBMX
GeneType: Name: gene with protein product
Rare disease: X-linked intellectual disability, Siderius type (Orphanet code 85287)
Associated genes:
Name: PHD finger protein 8
Symbol: PHF8
Synonyms: lang: en
text: JHDM1F
lang: en
text: KDM7B
lang: en
text: KIAA1111
lang: en
text: ZNF422
lang: en
text: histone lysine demethylase PHF8
lang: en
text: jumonji C domain-containing histone demethylase 1F
lang: en
text: lysine demethylase 7B
lang: en
text: zinc finger protein 422
GeneType: Name: gene with protein product
Rare disease: X-linked intellectual disability, Stocco Dos Santos type (Orphanet code 85288)
Associated genes:
Name: shroom family member 4
Symbol: SHROOM4
Synonyms: lang: en
text: KIAA1202
lang: en
text: Protein Shroom4
lang: en
text: SHAP
lang: en
text: Second homolog of apical protein
lang: en
text: Shrm4
GeneType: Name: gene with protein product
Rare disease: X-linked intellectual disability, Cabezas type (Orphanet code 85293)
Associated genes:
Name: cullin 4B
Symbol: CUL4B
GeneType: Name: gene with protein product
Rare disease: HSD10 disease, atypical type (Orphanet code 85295)
Associated genes:
Name: hydroxysteroid 17-beta dehydrogenase 10
Symbol: HSD17B10
Synonyms: lang: en
text: 17b-HSD10
lang: en
text: AB-binding alcohol dehydrogenase
lang: en
text: ABAD
lang: en
text: CAMR
lang: en
text: ERAB
lang: en
text: MHBD
lang: en
text: MRPP2
lang: en
text: SDR5C1
lang: en
text: mitochondrial RNase P subunit 2
lang: en
text: short chain dehydrogenase/reductase family 5C, member 1
lang: en
text: type 10 17b-HSD
lang: en
text: type 10 17beta-hydroxysteroid dehydrogenase
GeneType: Name: gene with protein product
Rare disease: X-linked epilepsy-learning disabilities-behavior disorders syndrome (Orphanet code 85294)
Associated genes:
Name: synapsin I
Symbol: SYN1
Synonyms: lang: en
text: Synapsin-1
GeneType: Name: gene with protein product
Rare disease: X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome (Orphanet code 85329)
Associated genes:
Name: adaptor related protein complex 1 subunit sigma 2
Symbol: AP1S2
Synonyms: lang: en
text: SIGMA1B
GeneType: Name: gene with protein product
Rare disease: Fried syndrome (Orphanet code 85335)
Associated genes:
Name: adaptor related protein complex 1 subunit sigma 2
Symbol: AP1S2
Synonyms: lang: en
text: SIGMA1B
GeneType: Name: gene with protein product
Rare disease: Oligoarticular juvenile idiopathic arthritis (Orphanet code 85410)
Associated genes:
Name: protein tyrosine phosphatase non-receptor type 22
Symbol: PTPN22
Synonyms: lang: en
text: Lyp
lang: en
text: Lyp1
lang: en
text: Lyp2
GeneType: Name: gene with protein product
Name: signal transducer and activator of transcription 4
Symbol: STAT4
GeneType: Name: gene with protein product
Name: interleukin 2 receptor subunit alpha
Symbol: IL2RA
Synonyms: lang: en
text: CD25
GeneType: Name: gene with protein product
Name: CD247 molecule
Symbol: CD247
Synonyms: lang: en
text: CD3-ZETA
lang: en
text: CD3H
lang: en
text: CD3Q
lang: en
text: CD3ZETA
lang: en
text: T-cell surface glycoprotein CD3 zeta chain
lang: en
text: TCRZ
GeneType: Name: gene with protein product
Name: protein tyrosine phosphatase non-receptor type 2
Symbol: PTPN2
Synonyms: lang: en
text: TC-PTP
lang: en
text: TC45
lang: en
text: TC48
lang: en
text: TCELLPTP
lang: en
text: TCPTP
GeneType: Name: gene with protein product
Name: ankyrin repeat domain 55
Symbol: ANKRD55
Synonyms: lang: en
text: FLJ11795
GeneType: Name: gene with protein product
Name: interleukin 2 receptor subunit beta
Symbol: IL2RB
Synonyms: lang: en
text: CD122
GeneType: Name: gene with protein product
Rare disease: Systemic-onset juvenile idiopathic arthritis (Orphanet code 85414)
Associated genes:
Name: major histocompatibility complex, class II, DR beta 1
Symbol: HLA-DRB1
GeneType: Name: gene with protein product
Name: macrophage migration inhibitory factor
Symbol: MIF
Synonyms: lang: en
text: GIF
lang: en
text: glycosylation-inhibiting factor
lang: en
text: phenylpyruvate tautomerase
GeneType: Name: gene with protein product
Name: interleukin 6
Symbol: IL6
Synonyms: lang: en
text: BSF2
lang: en
text: HGF
lang: en
text: HSF
lang: en
text: IL-6
lang: en
text: interferon, beta 2
GeneType: Name: gene with protein product
Name: laccase domain containing 1
Symbol: LACC1
Synonyms: lang: en
text: FAMIN
lang: en
text: FLJ38725
lang: en
text: fatty acid metabolismimmunity nexus
GeneType: Name: gene with protein product
Rare disease: Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis (Orphanet code 85408)
Associated genes:
Name: protein tyrosine phosphatase non-receptor type 22
Symbol: PTPN22
Synonyms: lang: en
text: Lyp
lang: en
text: Lyp1
lang: en
text: Lyp2
GeneType: Name: gene with protein product
Name: signal transducer and activator of transcription 4
Symbol: STAT4
GeneType: Name: gene with protein product
Name: interleukin 2 receptor subunit alpha
Symbol: IL2RA
Synonyms: lang: en
text: CD25
GeneType: Name: gene with protein product
Name: CD247 molecule
Symbol: CD247
Synonyms: lang: en
text: CD3-ZETA
lang: en
text: CD3H
lang: en
text: CD3Q
lang: en
text: CD3ZETA
lang: en
text: T-cell surface glycoprotein CD3 zeta chain
lang: en
text: TCRZ
GeneType: Name: gene with protein product
Name: protein tyrosine phosphatase non-receptor type 2
Symbol: PTPN2
Synonyms: lang: en
text: TC-PTP
lang: en
text: TC45
lang: en
text: TC48
lang: en
text: TCELLPTP
lang: en
text: TCPTP
GeneType: Name: gene with protein product
Name: ankyrin repeat domain 55
Symbol: ANKRD55
Synonyms: lang: en
text: FLJ11795
GeneType: Name: gene with protein product
Name: interleukin 2 receptor subunit beta
Symbol: IL2RB
Synonyms: lang: en
text: CD122
GeneType: Name: gene with protein product
Rare disease: Short stature-pituitary and cerebellar defects-small sella turcica syndrome (Orphanet code 85442)
Associated genes:
Name: LIM homeobox 4
Symbol: LHX4
Synonyms: lang: en
text: Gsh4
GeneType: Name: gene with protein product
Rare disease: AA amyloidosis (Orphanet code 85445)
Associated genes:
Name: serum amyloid A1
Symbol: SAA1
Synonyms: lang: en
text: PIG4
lang: en
text: TP53I4
GeneType: Name: gene with protein product
Rare disease: X-linked reticulate pigmentary disorder (Orphanet code 85453)
Associated genes:
Name: DNA polymerase alpha 1, catalytic subunit
Symbol: POLA1
Synonyms: lang: en
text: p180
GeneType: Name: gene with protein product
Rare disease: X-linked severe congenital neutropenia (Orphanet code 86788)
Associated genes:
Name: WASP actin nucleation promoting factor
Symbol: WAS
Synonyms: lang: en
text: WASP
lang: en
text: WASPA
lang: en
text: eczema-thrombocytopenia
GeneType: Name: gene with protein product
Rare disease: DPAGT1-CDG (Orphanet code 86309)
Associated genes:
Name: dolichyl-phosphate N-acetylglucosaminephosphotransferase 1
Symbol: DPAGT1
Synonyms: lang: en
text: ALG7
lang: en
text: CDG-Ij
lang: en
text: D11S366
lang: en
text: DGPT
lang: en
text: GPT
lang: en
text: GlcNAc-1-P transferase 1
lang: en
text: UDP-N-acetylglucosamine--dolichyl-phosphate N-acetylglucosaminephosphotransferase 1
GeneType: Name: gene with protein product
Rare disease: AGel amyloidosis (Orphanet code 85448)
Associated genes:
Name: gelsolin
Symbol: GSN
Synonyms: lang: en
text: DKFZp313L0718
lang: en
text: amyloidosis, Finnish type
GeneType: Name: gene with protein product
Rare disease: ATTRV30M amyloidosis (Orphanet code 85447)
Associated genes:
Name: transthyretin
Symbol: TTR
Synonyms: lang: en
text: CTS
lang: en
text: HsT2651
GeneType: Name: gene with protein product
Rare disease: ATTRV122I amyloidosis (Orphanet code 85451)
Associated genes:
Name: transthyretin
Symbol: TTR
Synonyms: lang: en
text: CTS
lang: en
text: HsT2651
GeneType: Name: gene with protein product
Rare disease: POMT1-related limb-girdle muscular dystrophy R11 (Orphanet code 86812)
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
Rare disease: Helicoid peripapillary chorioretinal degeneration (Orphanet code 86813)
Associated genes:
Name: TEA domain transcription factor 1
Symbol: TEAD1
Synonyms: lang: en
text: TEF-1
lang: en
text: transcriptional enhancer factor 1
GeneType: Name: gene with protein product
Rare disease: Benign adult familial myoclonic epilepsy (Orphanet code 86814)
Associated genes:
Name: sterile alpha motif domain containing 12
Symbol: SAMD12
Synonyms: lang: en
text: FLJ39458
GeneType: Name: gene with protein product
Name: YEATS domain containing 2
Symbol: YEATS2
Synonyms: lang: en
text: FLJ10201
lang: en
text: FLJ12841
lang: en
text: FLJ13308
lang: en
text: KIAA1197
GeneType: Name: gene with protein product
Name: catenin delta 2
Symbol: CTNND2
Synonyms: lang: en
text: GT24
lang: en
text: NPRAP
lang: en
text: neural plakophilin-related arm-repeat protein
lang: en
text: neurojungin
GeneType: Name: gene with protein product
Name: contactin 2
Symbol: CNTN2
Synonyms: lang: en
text: TAG-1
lang: en
text: TAX1
GeneType: Name: gene with protein product
Name: adrenoceptor alpha 2B
Symbol: ADRA2B
Synonyms: lang: en
text: ADRARL1
GeneType: Name: gene with protein product
Name: membrane associated ring-CH-type finger 6
Symbol: MARCHF6
Synonyms: lang: en
text: E3 ubiquitin-protein ligase MARCHF6
lang: en
text: MARCH-VI
lang: en
text: RNF176
lang: en
text: TEB4
lang: en
text: ring finger protein 176
GeneType: Name: gene with protein product
Rare disease: Aplasia of lacrimal and salivary glands (Orphanet code 86815)
Associated genes:
Name: fibroblast growth factor 10
Symbol: FGF10
GeneType: Name: gene with protein product
Rare disease: Familial avascular necrosis of femoral head (Orphanet code 86820)
Associated genes:
Name: transient receptor potential cation channel subfamily V member 4
Symbol: TRPV4
Synonyms: lang: en
text: CMT2C
lang: en
text: OTRPC4
lang: en
text: TRP12
lang: en
text: VR-OAC
lang: en
text: VRL-2
lang: en
text: VROAC
lang: en
text: osmosensitive transient receptor potential channel 4
GeneType: Name: gene with protein product
Name: collagen type II alpha 1 chain
Symbol: COL2A1
Synonyms: lang: en
text: STL1
GeneType: Name: gene with protein product
Rare disease: Congenital analbuminemia (Orphanet code 86816)
Associated genes:
Name: albumin
Symbol: ALB
GeneType: Name: gene with protein product
Rare disease: Chronic lymphoproliferative disorder of natural killer cells (Orphanet code 512017)
Associated genes:
Name: signal transducer and activator of transcription 3
Symbol: STAT3
Synonyms: lang: en
text: APRF
GeneType: Name: gene with protein product
Rare disease: Hemolytic anemia due to adenylate kinase deficiency (Orphanet code 86817)
Associated genes:
Name: adenylate kinase 1
Symbol: AK1
GeneType: Name: gene with protein product
Rare disease: Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome (Orphanet code 86818)
Associated genes:
Name: potassium voltage-gated channel subfamily E regulatory subunit 5
Symbol: KCNE5
GeneType: Name: gene with protein product
Name: AMMECR nuclear protein 1
Symbol: AMMECR1
GeneType: Name: gene with protein product
Name: acyl-CoA synthetase long chain family member 4
Symbol: ACSL4
Synonyms: lang: en
text: ACS4
lang: en
text: LACS4
lang: en
text: lignoceroyl-CoA synthase
lang: en
text: long-chain fatty-acid-Coenzyme A ligase 4
GeneType: Name: gene with protein product
Name: AMMECR nuclear protein 1
Symbol: AMMECR1
GeneType: Name: gene with protein product
Rare disease: Atrichia with papular lesions (Orphanet code 86819)
Associated genes:
Name: HR lysine demethylase and nuclear receptor corepressor
Symbol: HR
Synonyms: lang: en
text: AU
GeneType: Name: gene with protein product
Rare disease: Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality (Orphanet code 86841)
Associated genes:
Name: ribosomal protein S14
Symbol: RPS14
Synonyms: lang: en
text: 40S ribosomal protein S14
lang: en
text: EMTB
lang: en
text: S14
lang: en
text: emetine resistance
lang: en
text: uS11
GeneType: Name: gene with protein product
Rare disease: Autosomal recessive epidermolytic ichthyosis (Orphanet code 512103)
Associated genes:
Name: keratin 10
Symbol: KRT10
Synonyms: lang: en
text: CK10
lang: en
text: K10
lang: en
text: cytokeratin 10
lang: en
text: epidermolytic hyperkeratosis
GeneType: Name: gene with protein product
Rare disease: Juvenile myelomonocytic leukemia (Orphanet code 86834)
Associated genes:
Name: RAS related
Symbol: RRAS
Synonyms: lang: en
text: Oncogene RRAS
lang: en
text: R-Ras
lang: en
text: RRAS1
GeneType: Name: gene with protein product
Name: protein tyrosine phosphatase non-receptor type 11
Symbol: PTPN11
Synonyms: lang: en
text: BPTP3
lang: en
text: PTP2C
lang: en
text: SH-PTP2
lang: en
text: SH2 domain-containing protein tyrosine phosphatase 2
lang: en
text: SHP-2
lang: en
text: SHP2
GeneType: Name: gene with protein product
Name: KRAS proto-oncogene, GTPase
Symbol: KRAS
Synonyms: lang: en
text: K-Ras4B
lang: en
text: KRAS1
GeneType: Name: gene with protein product
Name: neurofibromin 1
Symbol: NF1
Synonyms: lang: en
text: Watson disease
lang: en
text: neurofibromatosis
lang: en
text: von Recklinghausen disease
GeneType: Name: gene with protein product
Name: NRAS proto-oncogene, GTPase
Symbol: NRAS
Synonyms: lang: en
text: N-ras
GeneType: Name: gene with protein product
Name: Cbl proto-oncogene
Symbol: CBL
Synonyms: lang: en
text: RNF55
lang: en
text: c-Cbl
lang: en
text: oncogene CBL2
GeneType: Name: gene with protein product
Rare disease: Chronic myeloproliferative disease, unclassifiable (Orphanet code 86830)
Associated genes:
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
Rare disease: Chronic neutrophilic leukemia (Orphanet code 86829)
Associated genes:
Name: colony stimulating factor 3 receptor
Symbol: CSF3R
Synonyms: lang: en
text: G-CSF-R
lang: en
text: GCSFR
lang: en
text: granulocyte colony-stimulating factor receptor
GeneType: Name: gene with protein product
Rare disease: Congenital cerebellar ataxia due to RNU12 mutation (Orphanet code 512260)
Associated genes:
Name: RNA, U12 small nuclear
Symbol: RNU12
Synonyms: lang: en
text: RNA, U12 small nuclear 1
lang: en
text: RNU12-1
GeneType: Name: Non-coding RNA
Rare disease: Acute basophilic leukemia (Orphanet code 86849)
Associated genes:
Name: MYB proto-oncogene, transcription factor
Symbol: MYB
Synonyms: lang: en
text: c-myb
GeneType: Name: gene with protein product
Name: GATA binding protein 1
Symbol: GATA1
Synonyms: lang: en
text: ERYF1
lang: en
text: GATA-1
lang: en
text: NF-E1
lang: en
text: NFE1
lang: en
text: nuclear factor, erythroid 1
GeneType: Name: gene with protein product
Rare disease: Acute myeloid leukaemia with myelodysplasia-related features (Orphanet code 86845)
Associated genes:
Name: tet methylcytosine dioxygenase 2
Symbol: TET2
Synonyms: lang: en
text: FLJ20032
lang: en
text: ten-eleven translocation 2
GeneType: Name: gene with protein product
Name: isocitrate dehydrogenase (NADP(+)) 1
Symbol: IDH1
GeneType: Name: gene with protein product
Name: isocitrate dehydrogenase (NADP(+)) 2
Symbol: IDH2
Synonyms: lang: en
text: IDH-2
GeneType: Name: gene with protein product
Name: ASXL transcriptional regulator 1
Symbol: ASXL1
Synonyms: lang: en
text: KIAA0978
GeneType: Name: gene with protein product
Name: DNA methyltransferase 3 alpha
Symbol: DNMT3A
GeneType: Name: gene with protein product
Rare disease: T-cell large granular lymphocyte leukemia (Orphanet code 86872)
Associated genes:
Name: signal transducer and activator of transcription 3
Symbol: STAT3
Synonyms: lang: en
text: APRF
GeneType: Name: gene with protein product
Rare disease: Subcutaneous panniculitis-like T-cell lymphoma (Orphanet code 86884)
Associated genes:
Name: hepatitis A virus cellular receptor 2
Symbol: HAVCR2
Synonyms: lang: en
text: CD366
lang: en
text: FLJ14428
lang: en
text: T-cell immunoglobulin mucin family member 3
lang: en
text: TIM3
lang: en
text: TIMD3
lang: en
text: Tim-3
GeneType: Name: gene with protein product
Rare disease: Ichthyosis hystrix of Curth-Macklin (Orphanet code 79503)
Associated genes:
Name: keratin 1
Symbol: KRT1
Synonyms: lang: en
text: KRT1A
GeneType: Name: gene with protein product
Rare disease: Cholesterol-ester transfer protein deficiency (Orphanet code 79506)
Associated genes:
Name: cholesteryl ester transfer protein
Symbol: CETP
Synonyms: lang: en
text: BPI fold containing family F
lang: en
text: BPIFF
GeneType: Name: gene with protein product
Rare disease: X-linked congenital generalized hypertrichosis (Orphanet code 79495)
Associated genes:
Name: SRY-box transcription factor 3
Symbol: SOX3
GeneType: Name: gene with protein product
Rare disease: Autosomal dominant deafness-onychodystrophy syndrome (Orphanet code 79499)
Associated genes:
Name: ATPase H+ transporting V1 subunit B2
Symbol: ATP6V1B2
Synonyms: lang: en
text: HO57
lang: en
text: V-ATPase subunit B2
lang: en
text: VATB
lang: en
text: Vma2
GeneType: Name: gene with protein product
Rare disease: DOORS syndrome (Orphanet code 79500)
Associated genes:
Name: ATPase H+ transporting V1 subunit B2
Symbol: ATP6V1B2
Synonyms: lang: en
text: HO57
lang: en
text: V-ATPase subunit B2
lang: en
text: VATB
lang: en
text: Vma2
GeneType: Name: gene with protein product
Name: TBC1 domain family member 24
Symbol: TBC1D24
Synonyms: lang: en
text: DFNA65
lang: en
text: KIAA1171
lang: en
text: TBC/LysM-associated domain containing 6
lang: en
text: TLDC6
lang: en
text: deafness, autosomal dominant 65
lang: en
text: skywalker homolog (Drosophila)
GeneType: Name: gene with protein product
Rare disease: Punctate palmoplantar keratoderma type 1 (Orphanet code 79501)
Associated genes:
Name: collagen type XIV alpha 1 chain
Symbol: COL14A1
GeneType: Name: gene with protein product
Name: alpha and gamma adaptin binding protein
Symbol: AAGAB
Synonyms: lang: en
text: FLJ11506
lang: en
text: p34
GeneType: Name: gene with protein product
Rare disease: Gardner syndrome (Orphanet code 79665)
Associated genes:
Name: APC regulator of WNT signaling pathway
Symbol: APC
Synonyms: lang: en
text: DP2
lang: en
text: DP2.5
lang: en
text: DP3
lang: en
text: PPP1R46
lang: en
text: protein phosphatase 1, regulatory subunit 46
GeneType: Name: gene with protein product
Rare disease: Autosomal recessive hyperinsulinism due to SUR1 deficiency (Orphanet code 79643)
Associated genes:
Name: ATP binding cassette subfamily C member 8
Symbol: ABCC8
Synonyms: lang: en
text: ABC36
lang: en
text: HHF1
lang: en
text: HI
lang: en
text: MRP8
lang: en
text: PHHI
lang: en
text: SUR1
lang: en
text: TNDM2
lang: en
text: sulfonylurea receptor (hyperinsulinemia)
GeneType: Name: gene with protein product
Rare disease: Mild hyperphenylalaninemia (Orphanet code 79651)
Associated genes:
Name: phenylalanine hydroxylase
Symbol: PAH
Synonyms: lang: en
text: PH
lang: en
text: phenylalanine 4-monooxygenase
GeneType: Name: gene with protein product
Rare disease: Autosomal recessive hyperinsulinism due to Kir6.2 deficiency (Orphanet code 79644)
Associated genes:
Name: potassium inwardly rectifying channel subfamily J member 11
Symbol: KCNJ11
Synonyms: lang: en
text: ATP-sensitive inward rectifier potassium channel 11
lang: en
text: BIR
lang: en
text: Kir6.2
lang: en
text: beta-cell inward rectifier
GeneType: Name: gene with protein product
Rare disease: Proximal spinal muscular atrophy type 1 (Orphanet code 83330)
Associated genes:
Name: survival of motor neuron 2, centromeric
Symbol: SMN2
Synonyms: lang: en
text: BCD541
lang: en
text: GEMIN1
lang: en
text: SMNC
lang: en
text: TDRD16B
lang: en
text: tudor domain containing 16B
GeneType: Name: gene with protein product
Name: NLR family apoptosis inhibitory protein
Symbol: NAIP
Synonyms: lang: en
text: NLR family, BIR domain containing 1
lang: en
text: NLRB1
lang: en
text: nucleotide-binding oligomerization domain, leucine rich repeat and BIR domain containing 1
GeneType: Name: gene with protein product
Name: survival of motor neuron 1, telomeric
Symbol: SMN1
Synonyms: lang: en
text: BCD541
lang: en
text: GEMIN1
lang: en
text: SMA1
lang: en
text: SMA2
lang: en
text: SMA3
lang: en
text: SMNT
lang: en
text: TDRD16A
lang: en
text: gemin-1
lang: en
text: tudor domain containing 16A
GeneType: Name: gene with protein product
Rare disease: Proximal spinal muscular atrophy type 3 (Orphanet code 83419)
Associated genes:
Name: survival of motor neuron 2, centromeric
Symbol: SMN2
Synonyms: lang: en
text: BCD541
lang: en
text: GEMIN1
lang: en
text: SMNC
lang: en
text: TDRD16B
lang: en
text: tudor domain containing 16B
GeneType: Name: gene with protein product
Name: NLR family apoptosis inhibitory protein
Symbol: NAIP
Synonyms: lang: en
text: NLR family, BIR domain containing 1
lang: en
text: NLRB1
lang: en
text: nucleotide-binding oligomerization domain, leucine rich repeat and BIR domain containing 1
GeneType: Name: gene with protein product
Name: survival of motor neuron 1, telomeric
Symbol: SMN1
Synonyms: lang: en
text: BCD541
lang: en
text: GEMIN1
lang: en
text: SMA1
lang: en
text: SMA2
lang: en
text: SMA3
lang: en
text: SMNT
lang: en
text: TDRD16A
lang: en
text: gemin-1
lang: en
text: tudor domain containing 16A
GeneType: Name: gene with protein product
Rare disease: Proximal spinal muscular atrophy type 4 (Orphanet code 83420)
Associated genes:
Name: survival of motor neuron 2, centromeric
Symbol: SMN2
Synonyms: lang: en
text: BCD541
lang: en
text: GEMIN1
lang: en
text: SMNC
lang: en
text: TDRD16B
lang: en
text: tudor domain containing 16B
GeneType: Name: gene with protein product
Name: survival of motor neuron 1, telomeric
Symbol: SMN1
Synonyms: lang: en
text: BCD541
lang: en
text: GEMIN1
lang: en
text: SMA1
lang: en
text: SMA2
lang: en
text: SMA3
lang: en
text: SMNT
lang: en
text: TDRD16A
lang: en
text: gemin-1
lang: en
text: tudor domain containing 16A
GeneType: Name: gene with protein product