rs104894485, HCN4

N. diseases: 4
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Sick Sinus Syndrome 2, Autosomal Dominant
CUI: C1834144
Disease: Sick Sinus Syndrome 2, Autosomal Dominant
0.800 GeneticVariation UNIPROT Local and global interpretations of a disease-causing mutation near the ligand entry path in hyperpolarization-activated cAMP-gated channel. 23103389 2012
Sick Sinus Syndrome 2, Autosomal Dominant
CUI: C1834144
Disease: Sick Sinus Syndrome 2, Autosomal Dominant
0.800 GeneticVariation UNIPROT A novel mutation in the HCN4 gene causes symptomatic sinus bradycardia in Moroccan Jews. 20662977 2010
Sick Sinus Syndrome 2, Autosomal Dominant
CUI: C1834144
Disease: Sick Sinus Syndrome 2, Autosomal Dominant
0.800 GeneticVariation UNIPROT Familial sinus bradycardia associated with a mutation in the cardiac pacemaker channel. 16407510 2006
Sick Sinus Syndrome 2, Autosomal Dominant
CUI: C1834144
Disease: Sick Sinus Syndrome 2, Autosomal Dominant
0.800 GeneticVariation UNIPROT Functional characterization of a trafficking-defective HCN4 mutation, D553N, associated with cardiac arrhythmia. 15123648 2004
Sick Sinus Syndrome 2, Autosomal Dominant
CUI: C1834144
Disease: Sick Sinus Syndrome 2, Autosomal Dominant
0.800 CausalMutation CLINVAR
Syncope
CUI: C0039070
Disease: Syncope
0.010 GeneticVariation BEFREE A missense mutation, D553N, was found in a patient with sinus node dysfunction who showed recurrent syncope, QT prolongation in electrocardiogram, and polymorphic ventricular tachycardia, torsade de pointes. 15123648 2004
Sinus Node Dysfunction (disorder)
CUI: C0428908
Disease: Sinus Node Dysfunction (disorder)
0.010 GeneticVariation BEFREE A missense mutation, D553N, was found in a patient with sinus node dysfunction who showed recurrent syncope, QT prolongation in electrocardiogram, and polymorphic ventricular tachycardia, torsade de pointes. 15123648 2004
Ventricular tachycardia, polymorphic
CUI: C0344432
Disease: Ventricular tachycardia, polymorphic
0.010 GeneticVariation BEFREE A missense mutation, D553N, was found in a patient with sinus node dysfunction who showed recurrent syncope, QT prolongation in electrocardiogram, and polymorphic ventricular tachycardia, torsade de pointes. 15123648 2004