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 		0.200 GeneticVariation disease BEFREE Subsequent mutational analysis identified 3 additional variants within CACNA1C in our cohort of 102 unrelated cases of genotype-negative/phenotype-positive LQTS. 23677916 2013
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome 		0.200 GeneticVariation disease BEFREE Mutations in CACNA1C that increase current through the CaV1.2 L-type Ca2+ channel underlie rare forms of long QT syndrome (LQTS), and Timothy syndrome (TS). 25184293 2014
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