AKAP9, A-kinase anchoring protein 9, 10142

N. diseases: 60; N. variants: 18
Disease: Long QT Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.110 GeneticVariation disease BEFREE Members of a South African LQTS-type 1 founder population (181 noncarriers and 168 mutation carriers) carrying the identical-by-descent KCNQ1 p.Ala341Val (A341V) mutation were evaluated for modifying effects of AKAP9 variants on heart rate-corrected QT interval (QTc), cardiac events, and disease severity. 25087618 2014
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.110 GeneticVariation disease CLINVAR