TaoMedAI/RareMedData huggingface dataset:
Rare disease: Complete atrioventricular septal defect without ventricular hypoplasia (Orphanet code 576227)
Associated genes:
Name: myocyte enhancer factor 2C
Symbol: MEF2C
GeneType: Name: gene with protein product
Rare disease: Cathepsin A-related arteriopathy-strokes-leukoencephalopathy (Orphanet code 575553)
Associated genes:
Name: cathepsin A
Symbol: CTSA
Synonyms: lang: en
text: carboxypeptidase C
lang: en
text: carboxypeptidase Y-like kininase
lang: en
text: carboxypeptidase-L
lang: en
text: deamidase
lang: en
text: lysosomal carboxypeptidase A
lang: en
text: lysosomal protective protein
lang: en
text: urinary kininase
GeneType: Name: gene with protein product
Rare disease: NLRC4-related familial cold autoinflammatory syndrome (Orphanet code 576349)
Associated genes:
Name: NLR family CARD domain containing 4
Symbol: NLRC4
Synonyms: lang: en
text: CLAN
lang: en
text: CLAN1
lang: en
text: CLANA
lang: en
text: CLANB
lang: en
text: CLANC
lang: en
text: CLAND
lang: en
text: CLR2.1
lang: en
text: NOD-like receptor C4
lang: en
text: ipaf
lang: en
text: nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 4
GeneType: Name: gene with protein product
Rare disease: SATB2-associated syndrome due to a pathogenic variant (Orphanet code 576283)
Associated genes:
Name: SATB homeobox 2
Symbol: SATB2
Synonyms: lang: en
text: FLJ21474
lang: en
text: KIAA1034
GeneType: Name: gene with protein product
Rare disease: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial JAK1 deficiency (Orphanet code 574957)
Associated genes:
Name: Janus kinase 1
Symbol: JAK1
Synonyms: lang: en
text: JAK1A
lang: en
text: JTK3
GeneType: Name: gene with protein product
Rare disease: Predisposition to severe viral infection due to IRF7 deficiency (Orphanet code 574918)
Associated genes:
Name: interferon regulatory factor 7
Symbol: IRF7
GeneType: Name: gene with protein product
Rare disease: Brachydactyly type B1 (Orphanet code 572385)
Associated genes:
Name: receptor tyrosine kinase like orphan receptor 2
Symbol: ROR2
GeneType: Name: gene with protein product
Rare disease: Blepharophimosis-ptosis-epicanthus inversus syndrome type 2 (Orphanet code 572361)
Associated genes:
Name: forkhead box L2
Symbol: FOXL2
Synonyms: lang: en
text: BPES1
GeneType: Name: gene with protein product
Rare disease: Infantile-onset pulmonary alveolar proteinosis-hypogammaglobulinemia (Orphanet code 572428)
Associated genes:
Name: 2'-5'-oligoadenylate synthetase 1
Symbol: OAS1
Synonyms: lang: en
text: 2'-5' oligoadenylate synthase 1
lang: en
text: IFI-4
lang: en
text: OIASI
GeneType: Name: gene with protein product
Rare disease: Hereditary combined deficiency of vitamin K-dependent clotting factors (Orphanet code 98434)
Associated genes:
Name: gamma-glutamyl carboxylase
Symbol: GGCX
Synonyms: lang: en
text: VKCFD1
lang: en
text: peptidyl-glutamate 4-carboxylase
lang: en
text: vitamin K-dependent gamma-carboxylase
GeneType: Name: gene with protein product
Name: vitamin K epoxide reductase complex subunit 1
Symbol: VKORC1
GeneType: Name: gene with protein product
Rare disease: RFVT2-related riboflavin transporter deficiency (Orphanet code 572543)
Associated genes:
Name: solute carrier family 52 member 2
Symbol: SLC52A2
Synonyms: lang: en
text: D15Ertd747e
lang: en
text: FLJ11856
lang: en
text: G-protein coupled receptor 41
lang: en
text: GPCR41
lang: en
text: HuPAR-1
lang: en
text: PAR1
lang: en
text: RFT3
lang: en
text: RFVT2
lang: en
text: hRFT3
lang: en
text: human porcine endogenous retrovirus subgroup A receptor 1
GeneType: Name: gene with protein product
Rare disease: RFVT3-related riboflavin transporter deficiency (Orphanet code 572550)
Associated genes:
Name: solute carrier family 52 member 3
Symbol: SLC52A3
Synonyms: lang: en
text: RFT2
lang: en
text: RFVT3
lang: en
text: bA371L19.1
lang: en
text: hRFT2
lang: en
text: hypothetical protein LOC113278
GeneType: Name: gene with protein product
Rare disease: Microcephaly-short stature-limb abnormalities syndrome (Orphanet code 572773)
Associated genes:
Name: DNA replication fork stabilization factor DONSON
Symbol: DONSON
Synonyms: lang: en
text: B17
lang: en
text: C2TA
lang: en
text: DKFZP434M035
GeneType: Name: gene with protein product
Rare disease: WARS2-related combined oxidative phosphorylation defect (Orphanet code 572798)
Associated genes:
Name: tryptophanyl tRNA synthetase 2, mitochondrial
Symbol: WARS2
Synonyms: lang: en
text: TrpRS
lang: en
text: mtTrpRS
lang: en
text: tryptophan tRNA ligase 2, mitochondrial
GeneType: Name: gene with protein product
Rare disease: Microcephaly-micromelia syndrome (Orphanet code 572768)
Associated genes:
Name: DNA replication fork stabilization factor DONSON
Symbol: DONSON
Synonyms: lang: en
text: B17
lang: en
text: C2TA
lang: en
text: DKFZP434M035
GeneType: Name: gene with protein product
Rare disease: Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome (Orphanet code 572013)
Associated genes:
Name: microtubule actin crosslinking factor 1
Symbol: MACF1
Synonyms: lang: en
text: 620 kDa actin binding protein
lang: en
text: ABP620
lang: en
text: ACF7
lang: en
text: FLJ45612
lang: en
text: FLJ46776
lang: en
text: KIAA0465
lang: en
text: KIAA1251
lang: en
text: Lnc-PMIF
lang: en
text: MACF
lang: en
text: actin cross-linking factor
lang: en
text: actin cross-linking family protein 7
lang: en
text: macrophin 1
lang: en
text: postulated migration inhibitory factor
lang: en
text: trabeculin-alpha
GeneType: Name: gene with protein product
Name: centrosomal protein 85 like
Symbol: CEP85L
Synonyms: lang: en
text: NY-BR-15
lang: en
text: bA57K17.2
GeneType: Name: gene with protein product
Rare disease: Blepharophimosis-ptosis-epicanthus inversus syndrome plus (Orphanet code 572333)
Associated genes:
Name: forkhead box L2
Symbol: FOXL2
Synonyms: lang: en
text: BPES1
GeneType: Name: gene with protein product
Rare disease: Blepharophimosis-ptosis-epicanthus inversus syndrome type 1 (Orphanet code 572354)
Associated genes:
Name: forkhead box L2
Symbol: FOXL2
Synonyms: lang: en
text: BPES1
GeneType: Name: gene with protein product
Rare disease: QRSL1-related combined oxidative phosphorylation defect (Orphanet code 570491)
Associated genes:
Name: glutaminyl-tRNA amidotransferase subunit QRSL1
Symbol: QRSL1
Synonyms: lang: en
text: DKFZP564C1278
lang: en
text: FLJ10989
lang: en
text: FLJ12189
lang: en
text: FLJ13447
lang: en
text: GATA
lang: en
text: GatA
lang: en
text: glutamyl-tRNA(Gln) amidotransferase, subunit A
GeneType: Name: gene with protein product
Rare disease: Galactose mutarotase deficiency (Orphanet code 570422)
Associated genes:
Name: galactose mutarotase
Symbol: GALM
Synonyms: lang: en
text: aldose 1-epimerase
lang: en
text: aldose mutarotase
lang: en
text: galactomutarotase
GeneType: Name: gene with protein product
Rare disease: Bartter syndrome type 5 (Orphanet code 570371)
Associated genes:
Name: MAGE family member D2
Symbol: MAGED2
Synonyms: lang: en
text: 11B6
lang: en
text: BCG1
lang: en
text: HCA10
lang: en
text: JCL-1
lang: en
text: MAGE-D2
lang: en
text: MAGED
lang: en
text: MGC8386
lang: en
text: breast cancer associated gene 1
lang: en
text: hepatocellular carcinoma associated protein
lang: en
text: hepatocellular carcinoma-associated protein HCA10
lang: en
text: melanoma-associated antigen D2
GeneType: Name: gene with protein product
Rare disease: Myopathic intestinal pseudoobstruction (Orphanet code 104077)
Associated genes:
Name: actin gamma 2, smooth muscle
Symbol: ACTG2
Synonyms: lang: en
text: ACTSG
GeneType: Name: gene with protein product
Rare disease: Tropical pancreatitis (Orphanet code 103918)
Associated genes:
Name: serine peptidase inhibitor Kazal type 1
Symbol: SPINK1
Synonyms: lang: en
text: PCTT
lang: en
text: PSTI
lang: en
text: Spink3
lang: en
text: TATI
GeneType: Name: gene with protein product
Name: chymotrypsin C
Symbol: CTRC
Synonyms: lang: en
text: CLCR
lang: en
text: ELA4
lang: en
text: caldecrin
lang: en
text: chymotrypsinogen C
lang: en
text: elastase 4
GeneType: Name: gene with protein product
Rare disease: Congenital sodium diarrhea (Orphanet code 103908)
Associated genes:
Name: guanylate cyclase 2C
Symbol: GUCY2C
Synonyms: lang: en
text: GC-C
lang: en
text: GCC
lang: en
text: Guanylyl cyclase C
lang: en
text: HSER
lang: en
text: STA receptor
lang: en
text: STAR
lang: en
text: heat stable enterotoxin receptor
GeneType: Name: gene with protein product
Name: solute carrier family 9 member A3
Symbol: SLC9A3
Synonyms: lang: en
text: NHE-3
lang: en
text: Sodium/hydrogen exchanger 3
GeneType: Name: gene with protein product
Rare disease: Trehalase deficiency (Orphanet code 103909)
Associated genes:
Name: trehalase
Symbol: TREH
Synonyms: lang: en
text: MGC129621
lang: en
text: TRE
lang: en
text: TREA
lang: en
text: alpha,alpha-trehalase
lang: en
text: alpha,alpha-trehalose glucohydrolase
GeneType: Name: gene with protein product
Rare disease: Acute myeloid leukemia with t(8;21)(q22;q22) translocation (Orphanet code 102724)
Associated genes:
Name: RUNX family transcription factor 1
Symbol: RUNX1
Synonyms: lang: en
text: AMLCR1
lang: en
text: PEBP2A2
lang: en
text: aml1 oncogene
GeneType: Name: gene with protein product
Name: fms related receptor tyrosine kinase 3
Symbol: FLT3
Synonyms: lang: en
text: CD135
lang: en
text: FLK2
lang: en
text: STK1
GeneType: Name: gene with protein product
Name: CCAAT enhancer binding protein alpha
Symbol: CEBPA
Synonyms: lang: en
text: C/EBP-alpha
GeneType: Name: gene with protein product
Name: RUNX1 partner transcriptional co-repressor 1
Symbol: RUNX1T1
Synonyms: lang: en
text: CDR
lang: en
text: ETO
lang: en
text: MTG8
lang: en
text: ZMYND2
GeneType: Name: gene with protein product
Name: KIT proto-oncogene, receptor tyrosine kinase
Symbol: KIT
Synonyms: lang: en
text: C-Kit
lang: en
text: CD117
lang: en
text: SCFR
lang: en
text: mast/stem cell growth factor receptor Kit
GeneType: Name: gene with protein product
Rare disease: Classic lissencephaly (Orphanet code 102009)
Associated genes:
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: Familial isolated congenital asplenia (Orphanet code 101351)
Associated genes:
Name: NK2 homeobox 5
Symbol: NKX2-5
Synonyms: lang: en
text: CSX1
lang: en
text: NKX2.5
lang: en
text: NKX4-1
lang: en
text: tinman (Drosophila) homolog
lang: en
text: tinman paralog (Drosophila)
GeneType: Name: gene with protein product
Name: ribosomal protein SA
Symbol: RPSA
Synonyms: lang: en
text: 37LRP
lang: en
text: LRP
lang: en
text: SA
lang: en
text: p40
lang: en
text: uS2
GeneType: Name: gene with protein product
Rare disease: Early-onset severe Hermansky-Pudlak syndrome with hearing loss, due to AP3D1 deficiency (Orphanet code 664511)
Associated genes:
Name: adaptor related protein complex 3 subunit delta 1
Symbol: AP3D1
Synonyms: lang: en
text: ADTD
GeneType: Name: gene with protein product
Rare disease: Autosomal recessive dopa-responsive dystonia (Orphanet code 101150)
Associated genes:
Name: tyrosine hydroxylase
Symbol: TH
Synonyms: lang: en
text: DYT5b
lang: en
text: tyrosine 3-monooxygenase
GeneType: Name: gene with protein product
Name: TSPO associated protein 1
Symbol: TSPOAP1
Synonyms: lang: en
text: KIAA0612
lang: en
text: PRAX-1
lang: en
text: RIM-BP1
lang: en
text: RIMBP1
GeneType: Name: gene with protein product
Rare disease: Hermansky-Pudlak syndrome due to AP3B1 deficiency (Orphanet code 664500)
Associated genes:
Name: adaptor related protein complex 3 subunit beta 1
Symbol: AP3B1
Synonyms: lang: en
text: ADTB3A
lang: en
text: HPS2
lang: en
text: beta-3A
GeneType: Name: gene with protein product
Rare disease: Spinocerebellar ataxia type 25 (Orphanet code 101111)
Associated genes:
Name: spinocerebellar ataxia 25
Symbol: SCA25
GeneType: Name: Disorder-associated locus
Name: polyribonucleotide nucleotidyltransferase 1
Symbol: PNPT1
Synonyms: lang: en
text: 3'-5' RNA exonuclease
lang: en
text: OLD35
lang: en
text: PNPase
lang: en
text: Polynucleotide phosphorylase
lang: en
text: old-35
lang: en
text: polynucleotide phosphorylase
GeneType: Name: gene with protein product
Rare disease: Spinocerebellar ataxia type 26 (Orphanet code 101112)
Associated genes:
Name: eukaryotic translation elongation factor 2
Symbol: EEF2
Synonyms: lang: en
text: EEF-2
lang: en
text: Polypeptidyl-tRNA translocase
lang: en
text: polypeptidyl-tRNA translocase
GeneType: Name: gene with protein product
Rare disease: Spinocerebellar ataxia type 28 (Orphanet code 101109)
Associated genes:
Name: AFG3 like matrix AAA peptidase subunit 2
Symbol: AFG3L2
Synonyms: lang: en
text: SPAX5
GeneType: Name: gene with protein product
Rare disease: Gingival fibromatosis-aortic root dilatation-facial dysmorphism-intellectual disability syndrome (Orphanet code 664438)
Associated genes:
Name: potassium calcium-activated channel subfamily M alpha 1
Symbol: KCNMA1
Synonyms: lang: en
text: BK channel alpha subunit
lang: en
text: KCa1.1
lang: en
text: big potassium channel alpha subunit
lang: en
text: mSLO1
lang: en
text: maxiK channel
GeneType: Name: gene with protein product
Rare disease: Spinocerebellar ataxia type 20 (Orphanet code 101110)
Associated genes:
Name: spinocerebellar ataxia 20
Symbol: SCA20
GeneType: Name: Disorder-associated locus
Rare disease: Spinocerebellar ataxia type 23 (Orphanet code 101108)
Associated genes:
Name: prodynorphin
Symbol: PDYN
Synonyms: lang: en
text: ADCA
lang: en
text: PENKB
lang: en
text: beta-neoendorphin
lang: en
text: dynorphin
lang: en
text: leu-enkephalin
lang: en
text: leumorphin
lang: en
text: neoendorphin-dynorphin-enkephalin prepropeptide
lang: en
text: preproenkephalin B
lang: en
text: rimorphin
GeneType: Name: gene with protein product
Rare disease: Neurodevelopmental disorder-slit-like lateral ventricles-intellectual disability syndrome (Orphanet code 664430)
Associated genes:
Name: solute carrier family 4 member 10
Symbol: SLC4A10
Synonyms: lang: en
text: NBCn2
lang: en
text: NCBE
GeneType: Name: gene with protein product
Rare disease: Brain abnormalities-severe developmental delay-facial dysmorphism-intellectual disability syndrome due to MEF2C mutation (Orphanet code 664416)
Associated genes:
Name: myocyte enhancer factor 2C
Symbol: MEF2C
GeneType: Name: gene with protein product
Rare disease: EBV-induced lymphoproliferative disease due to TET2 deficiency (Orphanet code 664729)
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
Rare disease: EBV-induced lymphoproliferative disease due to CD137 deficiency (Orphanet code 664726)
Associated genes:
Name: TNF receptor superfamily member 9
Symbol: TNFRSF9
Synonyms: lang: en
text: 4-1BB
lang: en
text: CD137
GeneType: Name: gene with protein product
Rare disease: EBV-induced lymphoproliferative disease due to PRKCD deficiency (Orphanet code 664711)
Associated genes:
Name: protein kinase C delta
Symbol: PRKCD
GeneType: Name: gene with protein product
Rare disease: EBV-induced lymphoproliferative disease due to RASGRP1 deficiency (Orphanet code 664699)
Associated genes:
Name: RAS guanyl releasing protein 1
Symbol: RASGRP1
Synonyms: lang: en
text: CalDAG-GEFII
lang: en
text: RASGRP
lang: en
text: calcium- and diacylglycerol-regulated guanine nucleotide exchange factor II
GeneType: Name: gene with protein product
Rare disease: Charcot-Marie-Tooth disease type 1F (Orphanet code 101085)
Associated genes:
Name: neurofilament light chain
Symbol: NEFL
Synonyms: lang: en
text: CMT1F
lang: en
text: CMT2E
lang: en
text: NF68
lang: en
text: NFL
lang: en
text: PPP1R110
lang: en
text: protein phosphatase 1, regulatory subunit 110
GeneType: Name: gene with protein product
Rare disease: X-linked hyper-IgM syndrome (Orphanet code 101088)
Associated genes:
Name: CD40 ligand
Symbol: CD40LG
Synonyms: lang: en
text: CD154
lang: en
text: CD40 antigen ligand
lang: en
text: CD40-L
lang: en
text: CD40L
lang: en
text: T-B cell-activating molecule
lang: en
text: T-BAM
lang: en
text: TNF-related activation protein
lang: en
text: TRAP
lang: en
text: gp39
lang: en
text: hCD40L
lang: en
text: hyper-IgM syndrome
lang: en
text: tumor necrosis factor (ligand) superfamily member 5
GeneType: Name: gene with protein product
Rare disease: Charcot-Marie-Tooth disease type 1A (Orphanet code 101081)
Associated genes:
Name: peripheral myelin protein 22
Symbol: PMP22
Synonyms: lang: en
text: GAS3
lang: en
text: HMSNIA
lang: en
text: HNPP
lang: en
text: Sp110
GeneType: Name: gene with protein product
Rare disease: Charcot-Marie-Tooth disease type 1B (Orphanet code 101082)
Associated genes:
Name: myelin protein zero
Symbol: MPZ
Synonyms: lang: en
text: CMT2I
lang: en
text: CMT2J
lang: en
text: HMSNIB
lang: en
text: P0
GeneType: Name: gene with protein product
Rare disease: Charcot-Marie-Tooth disease type 1C (Orphanet code 101083)
Associated genes:
Name: lipopolysaccharide induced TNF factor
Symbol: LITAF
Synonyms: lang: en
text: FLJ38636
lang: en
text: PIG7
lang: en
text: SIMPLE
lang: en
text: TP53I7
GeneType: Name: gene with protein product
Rare disease: Charcot-Marie-Tooth disease type 1D (Orphanet code 101084)
Associated genes:
Name: early growth response 2
Symbol: EGR2
Synonyms: lang: en
text: Krox-20 homolog, Drosophila
GeneType: Name: gene with protein product
Rare disease: X-linked Charcot-Marie-Tooth disease type 4 (Orphanet code 101078)
Associated genes:
Name: apoptosis inducing factor mitochondria associated 1
Symbol: AIFM1
Synonyms: lang: en
text: AIF
lang: en
text: CMTX4
lang: en
text: DFNX5
GeneType: Name: gene with protein product
Rare disease: Neurodevelopmental delay-congenital heart defects-intellectual disability syndrome (Orphanet code 662234)
Associated genes:
Name: spen family transcriptional repressor
Symbol: SPEN
Synonyms: lang: en
text: KIAA0929
lang: en
text: MINT
lang: en
text: RBM15C
lang: en
text: SHARP
GeneType: Name: gene with protein product
Rare disease: NESCAV syndrome (Orphanet code 662367)
Associated genes:
Name: kinesin family member 1A
Symbol: KIF1A
Synonyms: lang: en
text: UNC104
GeneType: Name: gene with protein product
Rare disease: Mucopolysaccharidosis type 10 (Orphanet code 662216)
Associated genes:
Name: arylsulfatase family member K
Symbol: ARSK
Synonyms: lang: en
text: DKFZp313G1735
lang: en
text: TSULF
GeneType: Name: gene with protein product
Rare disease: Neurodevelopmental delay-brain malformations-skeletal defects-intellectual disability syndrome (Orphanet code 662207)
Associated genes:
Name: heterogeneous nuclear ribonucleoprotein H1
Symbol: HNRNPH1
Synonyms: lang: en
text: Heterogeneous nuclear ribonucleoprotein H
lang: en
text: hnRNPH
GeneType: Name: gene with protein product
Rare disease: X-linked Charcot-Marie-Tooth disease type 1 (Orphanet code 101075)
Associated genes:
Name: gap junction protein beta 1
Symbol: GJB1
Synonyms: lang: en
text: CX32
lang: en
text: Charcot-Marie-Tooth neuropathy, X-linked
lang: en
text: connexin 32
GeneType: Name: gene with protein product
Rare disease: Charcot-Marie-Tooth disease type 2H (Orphanet code 101102)
Associated genes:
Name: ganglioside induced differentiation associated protein 1
Symbol: GDAP1
Synonyms: lang: en
text: CMT2K
lang: en
text: CMT4
GeneType: Name: gene with protein product
Rare disease: Cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome due to TAB2 mutation (Orphanet code 664401)
Associated genes:
Name: TGF-beta activated kinase 1 (MAP3K7) binding protein 2
Symbol: TAB2
Synonyms: lang: en
text: KIAA0733
lang: en
text: TAK1 binding protein 2
GeneType: Name: gene with protein product
Rare disease: Charcot-Marie-Tooth disease type 2B2 (Orphanet code 101101)
Associated genes:
Name: polynucleotide kinase 3'-phosphatase
Symbol: PNKP
Synonyms: lang: en
text: PNK
GeneType: Name: gene with protein product
Rare disease: 6q25.1 microdeletion syndrome (Orphanet code 664404)
Associated genes:
Name: TGF-beta activated kinase 1 (MAP3K7) binding protein 2
Symbol: TAB2
Synonyms: lang: en
text: KIAA0733
lang: en
text: TAK1 binding protein 2
GeneType: Name: gene with protein product
Rare disease: Autosomal recessive Charcot-Marie-Tooth disease with hoarseness (Orphanet code 101097)
Associated genes:
Name: ganglioside induced differentiation associated protein 1
Symbol: GDAP1
Synonyms: lang: en
text: CMT2K
lang: en
text: CMT4
GeneType: Name: gene with protein product
Rare disease: Motor delay-microcephaly-speech impairment-ocular abnormalities syndrome (Orphanet code 662762)
Associated genes:
Name: actin related protein 2/3 complex subunit 4
Symbol: ARPC4
Synonyms: lang: en
text: ARC20
lang: en
text: Arp2/3 protein complex subunit p20
lang: en
text: actin related protein 2/3 complex, subunit 4 (20 kD)
lang: en
text: p20-Arc
GeneType: Name: gene with protein product
Rare disease: Hyper-IgM syndrome type 3 (Orphanet code 101090)
Associated genes:
Name: CD40 molecule
Symbol: CD40
Synonyms: lang: en
text: Bp50
lang: en
text: p50
GeneType: Name: gene with protein product
Rare disease: Hyper-IgM syndrome type 2 (Orphanet code 101089)
Associated genes:
Name: activation induced cytidine deaminase
Symbol: AICDA
Synonyms: lang: en
text: AID
lang: en
text: ARP2
lang: en
text: CDA2
lang: en
text: HIGM2
GeneType: Name: gene with protein product
Rare disease: Intellectual disability-speech delay-dysmorphic features-T cell abnormalities syndrome (Orphanet code 662829)
Associated genes:
Name: BCL11 transcription factor B
Symbol: BCL11B
Synonyms: lang: en
text: CTIP-2
lang: en
text: CTIP2
lang: en
text: SMARCM2
lang: en
text: hRIT1-alpha
GeneType: Name: gene with protein product
Rare disease: Hyper-IgM syndrome type 5 (Orphanet code 101092)
Associated genes:
Name: uracil DNA glycosylase
Symbol: UNG
Synonyms: lang: en
text: HIGM4
lang: en
text: UDG
lang: en
text: UNG1
lang: en
text: UNG2
lang: en
text: uracil-DNA glycosylase 1, uracil-DNA glycosylase 2
GeneType: Name: gene with protein product
Rare disease: Anastomosing haemangioma (Orphanet code 675359)
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
Name: G protein subunit alpha 14
Symbol: GNA14
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
Rare disease: Spinocerebellar ataxia type 27B (Orphanet code 675216)
Associated genes:
Name: fibroblast growth factor 14
Symbol: FGF14
Synonyms: lang: en
text: FHF4
lang: en
text: SCA27
GeneType: Name: gene with protein product
Rare disease: Familial hypocalciuric hypercalcemia type 2 (Orphanet code 101049)
Associated genes:
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
Rare disease: Familial hypocalciuric hypercalcemia type 3 (Orphanet code 101050)
Associated genes:
Name: adaptor related protein complex 2 subunit sigma 1
Symbol: AP2S1
Synonyms: lang: en
text: FBH3
lang: en
text: FBHOk
lang: en
text: sigma-2
GeneType: Name: gene with protein product
Rare disease: Familial hypofibrinogenemia (Orphanet code 101041)
Associated genes:
Name: fibrinogen alpha chain
Symbol: FGA
GeneType: Name: gene with protein product
Name: fibrinogen beta chain
Symbol: FGB
GeneType: Name: gene with protein product
Name: fibrinogen gamma chain
Symbol: FGG
GeneType: Name: gene with protein product
Rare disease: Autosomal dominant epilepsy with auditory features (Orphanet code 101046)
Associated genes:
Name: reelin
Symbol: RELN
Synonyms: lang: en
text: PRO1598
lang: en
text: RL
GeneType: Name: gene with protein product
Name: leucine rich glioma inactivated 1
Symbol: LGI1
Synonyms: lang: en
text: EPITEMPIN
lang: en
text: ETL1
lang: en
text: Epitempin-1
lang: en
text: IB1099
GeneType: Name: gene with protein product
Name: DEP domain containing 5, GATOR1 subcomplex subunit
Symbol: DEPDC5
Synonyms: lang: en
text: DEP.5
lang: en
text: KIAA0645
GeneType: Name: gene with protein product