AKAP12, A-kinase anchoring protein 12, 9590

N. diseases: 99; N. variants: 8
Disease: Congenital heart disease ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0152021
Disease: Congenital heart disease
Congenital heart disease 		0.010 GeneticVariation group BEFREE Recently, loss of function mutation of A-kinase anchoring protein 12 (AKAP12) is reported as a high-risk gene in congenital heart disease patients. 31383248 2019