Severe combined immunodeficiency disease

Disease Term Disease ID Gene Symbol Classification References Source
Combined immunodeficiency C0494261 PNP Causal Pathogenic evidence from ClinVar - ClinVar
RAG1 Causal Pathogenic evidence from ClinVar - ClinVar
RAG2 Causal Pathogenic evidence from ClinVar - ClinVar
STIM1 Causal Pathogenic evidence from ClinVar 26560041 ClinVar
ZAP70 Causal Pathogenic evidence from ClinVar - ClinVar
ACP5 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
ADA2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 29564582 -
BUB1B Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
CTLA4 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 25329329 -
DOCK8 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 25724123 -
ICOS Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 29226301 -
IL21R Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 12700598 -
IL2RA Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 24116927 -
ITK Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 21109689 -
MAGT1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 21983175 -
MALT1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 25627829 -
MSN Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 29556235 -
MYH7 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
MYOC Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
MYOCOS Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
PIK3CD Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 24136356 -
PIK3R1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 25488983 -
PLAA Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
PRKDC Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 25842288 -
RAC2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
Severe Combined Immunodeficiency C0085110 RAG1 Causal Pathogenic evidence from ClinVar 11213808, 11971977, 17572155, 18463379, 18768869, 20956421, 25869295, 27484032 ClinVar
RAG2 Causal Pathogenic evidence from ClinVar 11213808, 11971977, 17572155, 18463379, 18768869, 20956421, 25869295, 27484032 ClinVar
ZAP70 Causal Pathogenic evidence from ClinVar 8202713, 27288531 ClinVar
CD3D Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 15546002 -
CD3E Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 1370449, 1828760, 7937778, 8490660, 15546002, 24515816 -
CHD7 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
IL21R Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 12700598 -
MTHFD1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
MYH7 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
MYOC Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
MYOCOS Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
PKIG Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 19179314 -
PRKDC Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 25842288 -
PTPRC Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 22689986 -
Severe combined immunodeficiency due to complete RAG1/2 deficiency 331206 RAG1 Causal Pathogenic evidence from ClinVar - ClinVar
RAG2 Causal Pathogenic evidence from ClinVar - ClinVar
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, NK Cell-Positive C1832322 RAG1 Causal Pathogenic evidence from ClinVar 8810255, 9630231, 10701853, 11133745, 11313270, 17075247, 17572155, 18056378, 18442948, 18701881, 18822103, 19064334, 19458910, 19830075, 19912631, 20489056, 21131235, 24290284, 25516070 ClinVar
RAG2 Causal Pathogenic evidence from ClinVar 8810255, 10891502, 11133745, 11313270, 15025726, 16111638, 16960852, 17572155, 18033247, 18442948, 18701881, 19458910, 21624848, 23243423, 24290284, 25707801, 26186701, 26692406 ClinVar
Combined immunodeficiency due to STIM1 deficiency 317430 STIM1 Causal Pathogenic evidence from ClinVar - ClinVar
Combined immunodeficiency due to ZAP70 deficiency 911 ZAP70 Causal Pathogenic evidence from ClinVar - ClinVar
Severe combined immunodeficiency, atypical C1849236 ZAP70 Causal Pathogenic evidence from ClinVar - ClinVar
T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta 169160 CD3D Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
CD3E Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
SCID Due to ADA Deficiency, Early-Onset C1863236 PKIG Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 1284479, 1346349, 1680289, 1974554, 2166947, 2773932, 3182793, 3475710, 7554472, 8051429, 8258146, 8401541, 8614422, 9108404, 9361033, 9414266, 9758612, 11160213, 11313286, 14499267, 16276484, 17185467, 19179314, 20544538, 21624848, 23260757, 26255240, 26376800, 27095930, 27129325, 28266921 -
Severe combined immunodeficiency due to adenosine deaminase deficiency C0392607 PKIG Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -