Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome
0.200 CausalMutation disease CLINVAR The Timothy syndrome mutation differentially affects voltage- and calcium-dependent inactivation of CaV1.2 L-type calcium channels. 18250309 2008
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome
0.200 CausalMutation disease CLINVAR Severe arrhythmia disorder caused by cardiac L-type calcium channel mutations. 15863612 2005
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome
0.200 CausalMutation disease CLINVAR Ca(V)1.2 calcium channel dysfunction causes a multisystem disorder including arrhythmia and autism. 15454078 2004