GGT1, gamma-glutamyltransferase 1, 2678

N. diseases: 209; N. variants: 14
Disease: gamma-Glutamyltransferase deficiency ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0268524
Disease: gamma-Glutamyltransferase deficiency
gamma-Glutamyltransferase deficiency 		0.600 GermlineCausalMutation disease ORPHANET γ-glutamyl transpeptidase deficiency caused by a large homozygous intragenic deletion in GGT1. 29483667 2018
CUI: C0268524
Disease: gamma-Glutamyltransferase deficiency
gamma-Glutamyltransferase deficiency 		0.600 Biomarker disease GENOMICS_ENGLAND An atlas of genetic influences on human blood metabolites. 24816252 2014
CUI: C0268524
Disease: gamma-Glutamyltransferase deficiency
gamma-Glutamyltransferase deficiency 		0.600 Biomarker disease CTD_human