Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1834144
Disease: Sick Sinus Syndrome 2, Autosomal Dominant
Sick Sinus Syndrome 2, Autosomal Dominant 		0.700 Biomarker disease GENOMICS_ENGLAND Genetics of Brugada syndrome. 27761167 2016
CUI: C1834144
Disease: Sick Sinus Syndrome 2, Autosomal Dominant
Sick Sinus Syndrome 2, Autosomal Dominant 		0.700 GeneticVariation disease UNIPROT Local and global interpretations of a disease-causing mutation near the ligand entry path in hyperpolarization-activated cAMP-gated channel. 23103389 2012
CUI: C1834144
Disease: Sick Sinus Syndrome 2, Autosomal Dominant
Sick Sinus Syndrome 2, Autosomal Dominant 		0.700 GeneticVariation disease UNIPROT A novel mutation in the HCN4 gene causes symptomatic sinus bradycardia in Moroccan Jews. 20662977 2010
CUI: C1834144
Disease: Sick Sinus Syndrome 2, Autosomal Dominant
Sick Sinus Syndrome 2, Autosomal Dominant 		0.700 Biomarker disease GENOMICS_ENGLAND Point mutation in the HCN4 cardiac ion channel pore affecting synthesis, trafficking, and functional expression is associated with familial asymptomatic sinus bradycardia. 17646576 2007
CUI: C1834144
Disease: Sick Sinus Syndrome 2, Autosomal Dominant
Sick Sinus Syndrome 2, Autosomal Dominant 		0.700 GeneticVariation disease UNIPROT Familial sinus bradycardia associated with a mutation in the cardiac pacemaker channel. 16407510 2006
CUI: C1834144
Disease: Sick Sinus Syndrome 2, Autosomal Dominant
Sick Sinus Syndrome 2, Autosomal Dominant 		0.700 Biomarker disease GENOMICS_ENGLAND Short QT syndrome. 16301704 2005
CUI: C1834144
Disease: Sick Sinus Syndrome 2, Autosomal Dominant
Sick Sinus Syndrome 2, Autosomal Dominant 		0.700 GeneticVariation disease UNIPROT Functional characterization of a trafficking-defective HCN4 mutation, D553N, associated with cardiac arrhythmia. 15123648 2004
CUI: C1834144
Disease: Sick Sinus Syndrome 2, Autosomal Dominant
Sick Sinus Syndrome 2, Autosomal Dominant 		0.700 Biomarker disease CTD_human
CUI: C1834144
Disease: Sick Sinus Syndrome 2, Autosomal Dominant
Sick Sinus Syndrome 2, Autosomal Dominant 		0.700 CausalMutation disease CLINVAR
CUI: C2751083
Disease: Brugada Syndrome 8
Brugada Syndrome 8 		0.600 Biomarker disease GENOMICS_ENGLAND Genetics of Brugada syndrome. 27761167 2016
CUI: C2751083
Disease: Brugada Syndrome 8
Brugada Syndrome 8 		0.600 CausalMutation disease CLINVAR HCN4 mutation as a molecular explanation on patients with bradycardia and non-compaction cardiomyopathy. 26206080 2015
CUI: C2751083
Disease: Brugada Syndrome 8
Brugada Syndrome 8 		0.600 CausalMutation disease CLINVAR HCN4 mutations in multiple families with bradycardia and left ventricular noncompaction cardiomyopathy. 25145517 2014
CUI: C2751083
Disease: Brugada Syndrome 8
Brugada Syndrome 8 		0.600 CausalMutation disease CLINVAR The symptom complex of familial sinus node dysfunction and myocardial noncompaction is associated with mutations in the HCN4 channel. 25145518 2014
CUI: C2751083
Disease: Brugada Syndrome 8
Brugada Syndrome 8 		0.600 Biomarker disease GENOMICS_ENGLAND Point mutation in the HCN4 cardiac ion channel pore affecting synthesis, trafficking, and functional expression is associated with familial asymptomatic sinus bradycardia. 17646576 2007
CUI: C2751083
Disease: Brugada Syndrome 8
Brugada Syndrome 8 		0.600 Biomarker disease GENOMICS_ENGLAND Short QT syndrome. 16301704 2005
CUI: C2751083
Disease: Brugada Syndrome 8
Brugada Syndrome 8 		0.600 Biomarker disease CTD_human
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.500 Biomarker disease CLINGEN Dilation of the Aorta Ascendens Forms Part of the Clinical Spectrum of HCN4 Mutations. 27173043 2016
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.500 Biomarker disease CLINGEN HCN4 dynamically marks the first heart field and conduction system precursors. 23743334 2013
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.500 Biomarker disease GENOMICS_ENGLAND
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation 		0.490 GeneticVariation disease BEFREE Together with the common KCNE1 variant S38G, previously proposed as a genetic modifier of AF, HCN4-P883R may provide a substrate for the development of AF and TIC. 31481236 2019
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation 		0.490 Biomarker disease BEFREE In this review, we summarize the current knowledge of the HCN4 channel and ivabradine, including the function of HCN4 in cardiac pacemaking, the mechanism of action of I<sub>f</sub> inhibition by ivabradine, and the pharmacological and clinical effects of ivabradine in cardiac diseases as HF, coronary artery disease, and atrial fibrillation. 30606942 2019
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation 		0.490 Biomarker disease CTD_human Biobank-driven genomic discovery yields new insight into atrial fibrillation biology. 30061737 2018
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation 		0.490 GeneticVariation disease BEFREE Moreover, HCN4 mutation carriers were more frequently associated with AF (43.8%) and LVNC (50%) and with older age at pacemaker implantation (43.5 ± 22.1 years) than were SCN5A mutation carriers (17.8 ± 16.5 years; P <.001). 28104484 2017
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation 		0.490 GeneticVariation disease BEFREE One interaction, between rs7164883 at the HCN4 locus and rs4980345 at the SLC28A1 locus, was found to be significantly associated with AF in the discovery cohorts (interaction OR = 1.44, 95% CI: 1.27-1.65, P = 4.3 × 10<sup>-8</sup>). 27824142 2016
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation 		0.490 Biomarker disease BEFREE Together with the findings that caveolin-1 interacts with potassium channels Kir2.1, KCNH2, and HCN4 and sodium channels Nav1.5 and Nav1.8, CAV1 becomes a strong candidate susceptibility gene for AF across different ethnic populations. 25953654 2015