autoimmunity Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0002960
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Genes

79 genes associated with the autoimmunity phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ACP5 acid phosphatase 5, tartrate resistant
ADA adenosine deaminase
AIRE autoimmune regulator
ANKRD55 ankyrin repeat domain 55
ARVCF armadillo repeat gene deleted in velocardiofacial syndrome
BTK Bruton agammaglobulinemia tyrosine kinase
C1GALT1C1 C1GALT1-specific chaperone 1
C1QA complement component 1, q subcomponent, A chain
C1QB complement component 1, q subcomponent, B chain
C1QC complement component 1, q subcomponent, C chain
C1R complement component 1, r subcomponent
C1S complement component 1, s subcomponent
C2 complement component 2
C4A complement component 4A (Rodgers blood group)
C8A complement component 8, alpha polypeptide
CASP10 caspase 10, apoptosis-related cysteine peptidase
CAV1 caveolin 1, caveolae protein, 22kDa
CCR6 chemokine (C-C motif) receptor 6
CD247 CD247 molecule
CD3G CD3g molecule, gamma (CD3-TCR complex)
CECR1 cat eye syndrome chromosome region, candidate 1
CHD7 chromodomain helicase DNA binding protein 7
COMT catechol-O-methyltransferase
CTGF connective tissue growth factor
CTLA4 cytotoxic T-lymphocyte-associated protein 4
DCLRE1C DNA cross-link repair 1C
DNASE1L3 deoxyribonuclease I-like 3
FAS Fas cell surface death receptor
FASLG Fas ligand (TNF superfamily, member 6)
FCGR2C Fc fragment of IgG, low affinity IIc, receptor for (CD32) (gene/pseudogene)
FOXP3 forkhead box P3
GALC galactosylceramidase
GP1BB glycoprotein Ib (platelet), beta polypeptide
HIRA histone cell cycle regulator
HLA-DPB1 major histocompatibility complex, class II, DP beta 1
HLA-DQB1 major histocompatibility complex, class II, DQ beta 1
HLA-DRB1 major histocompatibility complex, class II, DR beta 1
ICOS inducible T-cell co-stimulator
IL2RA interleukin 2 receptor, alpha
IL2RB interleukin 2 receptor, beta
IL2RG interleukin 2 receptor, gamma
IL6 interleukin 6
IL7R interleukin 7 receptor
IRF5 interferon regulatory factor 5
ITGAM integrin, alpha M (complement component 3 receptor 3 subunit)
ITK IL2-inducible T-cell kinase
KIAA0319L KIAA0319-like
KMT2D lysine (K)-specific methyltransferase 2D
LCK LCK proto-oncogene, Src family tyrosine kinase
LIG4 ligase IV, DNA, ATP-dependent
LMNB2 lamin B2
LRBA LPS-responsive vesicle trafficking, beach and anchor containing
MIF macrophage migration inhibitory factor (glycosylation-inhibiting factor)
MMP2 matrix metallopeptidase 2
NBN nibrin
NHEJ1 nonhomologous end-joining factor 1
PAX4 paired box 4
PEPD peptidase D
PLCG2 phospholipase C, gamma 2 (phosphatidylinositol-specific)
PNP purine nucleoside phosphorylase
PRKCD protein kinase C, delta
PRTN3 proteinase 3
PTEN phosphatase and tensin homolog
PTPN2 protein tyrosine phosphatase, non-receptor type 2
PTPN22 protein tyrosine phosphatase, non-receptor type 22 (lymphoid)
RAG1 recombination activating gene 1
RAG2 recombination activating gene 2
RMRP RNA component of mitochondrial RNA processing endoribonuclease
SERPING1 serpin peptidase inhibitor, clade G (C1 inhibitor), member 1
STAT4 signal transducer and activator of transcription 4
STIM1 stromal interaction molecule 1
TBX1 T-box 1
TNFRSF13B tumor necrosis factor receptor superfamily, member 13B
TRAC T cell receptor alpha constant
TREX1 three prime repair exonuclease 1
TYK2 tyrosine kinase 2
UFD1L ubiquitin fusion degradation 1 like (yeast)
WAS Wiskott-Aldrich syndrome
WIPF1 WAS/WASL interacting protein family, member 1