Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 287
Gene Symbol: ANK2
ANK2
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder)
0.300 Biomarker CLINGEN Phenotypic Variability of ANK2 Mutations in Patients With Inherited Primary Arrhythmia Syndromes. 27784853

2016

Entrez Id: 287
Gene Symbol: ANK2
ANK2
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder)
0.300 Biomarker CLINGEN Genetic Analysis of Arrhythmogenic Diseases in the Era of NGS: The Complexity of Clinical Decision-Making in Brugada Syndrome. 26230511

2015

Entrez Id: 287
Gene Symbol: ANK2
ANK2
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder)
0.300 Biomarker CLINGEN "Defining the cellular phenotype of ""ankyrin-B syndrome"" variants: human ANK2 variants associated with clinical phenotypes display a spectrum of activities in cardiomyocytes." 17242276

2007

Entrez Id: 287
Gene Symbol: ANK2
ANK2
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder)
0.300 Biomarker CLINGEN Nav1.5 E1053K mutation causing Brugada syndrome blocks binding to ankyrin-G and expression of Nav1.5 on the surface of cardiomyocytes. 15579534

2004