Annotation Detail
Information
- Associated Genes
- HCN4
- Associated Variants
-
HCN4 p.Asp553Asn (p.D553N)
(
ENST00000261917.4 )
HCN4 p.Asp553Asn (p.D553N) ( ENST00000261917.4 ) - Associated Disease
- Sick sinus syndrome 2, autosomal dominant
- Source Database
- DisGeNET
- Description
- Functional characterization of a trafficking-defective HCN4 mutation, D553N, associated with cardiac arrhythmia.
- Pubmed
- 15123648
- Original source reporting the Gene Disease association
- UNIPROT
- DisGENET score for the Gene Disease association
- 0.36
- Year of publication
- 2004
Drugs