CTPS1, CTP synthase 1, 1503

N. diseases: 21; N. variants: 3
Disease: IMMUNODEFICIENCY 24 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs145092287
rs145092287
Entrez Id: 1503
Gene Symbol: CTPS1
CTPS1
CUI: C4014617
Disease:
IMMUNODEFICIENCY 24 		C 0.700 CausalMutation CLINVAR CTP Synthase 1 Deficiency in Successfully Transplanted Siblings with Combined Immune Deficiency and Chronic Active EBV Infection. 27638562 2016
dbSNP: rs145092287
rs145092287
Entrez Id: 1503
Gene Symbol: CTPS1
CTPS1
CUI: C4014617
Disease:
IMMUNODEFICIENCY 24 		C 0.700 CausalMutation CLINVAR CTP synthase 1 deficiency in humans reveals its central role in lymphocyte proliferation. 24870241 2014