Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 55750
Gene Symbol: AGK
AGK
CUI: C1859317
Disease: Cataract and cardiomyopathy
Cataract and cardiomyopathy 		0.780 CausalMutation CLINVAR Molecular diagnostic experience of whole-exome sequencing in adult patients. 26633545

2016
Entrez Id: 55750
Gene Symbol: AGK
AGK
CUI: C1859317
Disease: Cataract and cardiomyopathy
Cataract and cardiomyopathy 		0.780 CausalMutation CLINVAR Identification of a truncation mutation of acylglycerol kinase (AGK) gene in a novel autosomal recessive cataract locus. 22415731

2012
Entrez Id: 55750
Gene Symbol: AGK
AGK
CUI: C1859317
Disease: Cataract and cardiomyopathy
Cataract and cardiomyopathy 		0.780 GeneticVariation CLINVAR