AGK, acylglycerol kinase, 55750

N. diseases: 60; N. variants: 15
Disease: Congenital cataract ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		0.310 GeneticVariation disease BEFREE Mutation screening of AGK in further individuals with congenital cataracts and cardiomyopathy identified numerous loss-of-function mutations in an additional eight families, confirming the causal nature of AGK deficiency in Sengers syndrome. 22284826 2012
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		0.310 Biomarker disease GENOMICS_ENGLAND