Gene: SCN5A ×
Source: CURATED ×
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A 		0.980 GeneticVariation disease UNIPROT MOG1 rescues defective trafficking of Na(v)1.5 mutations in Brugada syndrome and sick sinus syndrome. 23420830 2013
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A 		0.980 GermlineCausalMutation disease ORPHANET Identification of a strong genetic background for progressive cardiac conduction defect by epidemiological approach. 22717692 2012
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A 		0.980 Biomarker disease GENOMICS_ENGLAND Concomitant Brugada-like and short QT electrocardiogram linked to SCN5A mutation. 22490985 2012
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A 		0.980 GeneticVariation disease UNIPROT Type of SCN5A mutation determines clinical severity and degree of conduction slowing in loss-of-function sodium channelopathies. 19251209 2009
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A 		0.980 GermlineCausalMutation disease ORPHANET Type of SCN5A mutation determines clinical severity and degree of conduction slowing in loss-of-function sodium channelopathies. 19251209 2009
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A 		0.980 GeneticVariation disease UNIPROT A common SCN5A polymorphism modulates the biophysical effects of an SCN5A mutation. 12569159 2003
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A 		0.980 GeneticVariation disease UNIPROT Compound heterozygosity for mutations (W156X and R225W) in SCN5A associated with severe cardiac conduction disturbances and degenerative changes in the conduction system. 12574143 2003
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A 		0.980 GermlineCausalMutation disease ORPHANET In a French family, we have identified a splicing mutation in the SCN5A gene leading to hereditary progressive cardiac conduction defect. 12598077 2003
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A 		0.980 GeneticVariation disease UNIPROT Clinical, genetic, and biophysical characterization of SCN5A mutations associated with atrioventricular conduction block. 11804990 2002
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A 		0.980 GeneticVariation disease UNIPROT A sodium-channel mutation causes isolated cardiac conduction disease. 11234013 2001
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A 		0.980 Biomarker disease GENOMICS_ENGLAND SCN5A mutations associated with an inherited cardiac arrhythmia, long QT syndrome. 7889574 1995
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A 		0.980 Biomarker disease CTD_human