Source: CURATED

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3757
Gene Symbol: KCNH2
KCNH2
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		0.450 Biomarker CLINGEN Additional next generation sequencing analyses revealed the p.R25W mutation in KCNH2 gene in SCN5A-negative BrS patients. 25626866

2015
Entrez Id: 3757
Gene Symbol: KCNH2
KCNH2
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		0.450 Biomarker CLINGEN We identified 4 KCNH2 mutations, T152I, R164C, W927G, and R1135H, in 236 consecutive probands with BrS or Brugada-like ECG. 24400717

2014
Entrez Id: 3757
Gene Symbol: KCNH2
KCNH2
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		0.450 Biomarker CLINGEN Rescue of aberrant gating by a genetically encoded PAS (Per-Arnt-Sim) domain in several long QT syndrome mutant human ether-á-go-go-related gene potassium channels. 21536673

2011
Entrez Id: 3757
Gene Symbol: KCNH2
KCNH2
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		0.450 Biomarker CLINGEN A novel KCNH2 mutation as a modifier for short QT interval. 18692916

2009
Entrez Id: 3757
Gene Symbol: KCNH2
KCNH2
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		0.450 Biomarker CLINGEN Role of sequence variations in the human ether-a-go-go-related gene (HERG, KCNH2) in the Brugada syndrome. 16043162

2005
Entrez Id: 3757
Gene Symbol: KCNH2
KCNH2
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		0.450 Biomarker CLINGEN Selective knockout of mouse ERG1 B potassium channel eliminates I(Kr) in adult ventricular myocytes and elicits episodes of abrupt sinus bradycardia. 12612061

2003