Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
0.410 GermlineCausalMutation disease ORPHANET Genotype- and phenotype-guided management of congenital long QT syndrome. 24093767 2013
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
0.410 CausalMutation disease CLINVAR Identification of six novel SCN5A mutations in Japanese patients with Brugada syndrome. 21321465 2011
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
0.410 GeneticVariation disease CLINVAR A homozygous SCN5A mutation in a severe, recessive type of cardiac conduction disease. 20564468 2010
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
0.410 CausalMutation disease CLINVAR Sudden arrhythmic death syndrome: familial evaluation identifies inheritable heart disease in the majority of families. 18508782 2008
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
0.410 CausalMutation disease CLINVAR Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing. 15840476 2005
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
0.410 CausalMutation disease CLINVAR Electrophysiological characterization of SCN5A mutations causing long QT (E1784K) and Brugada (R1512W and R1432G) syndromes. 10727653 2000
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
0.410 CausalMutation disease CLINVAR Congenital long-QT syndrome caused by a novel mutation in a conserved acidic domain of the cardiac Na+ channel. 10377081 1999
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
0.410 GeneticVariation disease BEFREE We have examined the SCN5A gene in 88 index cases with LQTS, including four with Jervell and Lange-Nielsen syndrome and the remainder with Romano-Ward syndrome. 10508990 1999