CTPS1, CTP synthase 1, 1503

N. diseases: 21; N. variants: 3
Disease: IMMUNODEFICIENCY 24 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4014617
Disease: IMMUNODEFICIENCY 24
IMMUNODEFICIENCY 24 		0.700 CausalMutation disease CLINVAR CTP Synthase 1 Deficiency in Successfully Transplanted Siblings with Combined Immune Deficiency and Chronic Active EBV Infection. 27638562 2016
CUI: C4014617
Disease: IMMUNODEFICIENCY 24
IMMUNODEFICIENCY 24 		0.700 CausalMutation disease CLINVAR CTP synthase 1 deficiency in humans reveals its central role in lymphocyte proliferation. 24870241 2014
CUI: C4014617
Disease: IMMUNODEFICIENCY 24
IMMUNODEFICIENCY 24 		0.700 GermlineCausalMutation disease ORPHANET CTP synthase 1 deficiency in humans reveals its central role in lymphocyte proliferation. 24870241 2014
CUI: C4014617
Disease: IMMUNODEFICIENCY 24
IMMUNODEFICIENCY 24 		0.700 Biomarker disease GENOMICS_ENGLAND Statistical features of human exons and their flanking regions. 9536098 1998
CUI: C4014617
Disease: IMMUNODEFICIENCY 24
IMMUNODEFICIENCY 24 		0.700 Biomarker disease CTD_human