AKAP9, A-kinase anchoring protein 9, 10142

N. diseases: 60; N. variants: 18
Disease: Long Qt Syndrome 11 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2678483
Disease: Long Qt Syndrome 11
Long Qt Syndrome 11 		0.700 Biomarker disease GENOMICS_ENGLAND AKAP9 is a genetic modifier of congenital long-QT syndrome type 1. 25087618 2014
CUI: C2678483
Disease: Long Qt Syndrome 11
Long Qt Syndrome 11 		0.700 GeneticVariation disease UNIPROT Mutation of an A-kinase-anchoring protein causes long-QT syndrome. 18093912 2007
CUI: C2678483
Disease: Long Qt Syndrome 11
Long Qt Syndrome 11 		0.700 Biomarker disease CLINGEN Mutation of an A-kinase-anchoring protein causes long-QT syndrome. 18093912 2007
CUI: C2678483
Disease: Long Qt Syndrome 11
Long Qt Syndrome 11 		0.700 Biomarker disease GENOMICS_ENGLAND Short QT syndrome. 16301704 2005
CUI: C2678483
Disease: Long Qt Syndrome 11
Long Qt Syndrome 11 		0.700 Biomarker disease CLINGEN Requirement of a macromolecular signaling complex for beta adrenergic receptor modulation of the KCNQ1-KCNE1 potassium channel. 11799244 2002
CUI: C2678483
Disease: Long Qt Syndrome 11
Long Qt Syndrome 11 		0.700 Biomarker disease GENOMICS_ENGLAND Requirement of a macromolecular signaling complex for beta adrenergic receptor modulation of the KCNQ1-KCNE1 potassium channel. 11799244 2002
CUI: C2678483
Disease: Long Qt Syndrome 11
Long Qt Syndrome 11 		0.700 GeneticVariation disease CLINVAR
CUI: C2678483
Disease: Long Qt Syndrome 11
Long Qt Syndrome 11 		0.700 Biomarker disease CTD_human