Disease: Familial (FPAH) ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.030 GeneticVariation disease BEFREE Patients with this congenital electrical abnormality are characterized by rate-corrected QT intervals<320 ms. Missense mutations in KCNH2 (HERG) linked to a gain-of-function of the rapidly activating delayed-rectifier current I(Kr) have been identified in the first two reported families with familial sudden cardiac death. 15890322 2005
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.030 GeneticVariation disease BEFREE We previously performed a nationwide analysis of familial long QT syndrome (LQTS) in Japan and identified 32 mutations in the KCNQ1 and KCNH2 genes. 11289718 2001
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.030 GeneticVariation disease BEFREE Genomic organization and mutational analysis of HERG, a gene responsible for familial long QT syndrome. 9600240 1998