Annotation Detail
Information
- Associated Genes
- PKP2
- Associated Variants
-
PKP2 p.Arg735Ter (p.R735*)
(
ENST00000340811.9,
ENST00000070846.11,
ENST00000549461.3,
ENST00000700558.2,
ENST00000700559.2 )
PKP2 p.Arg735Ter (p.R735*) ( ENST00000070846.11, ENST00000340811.9, ENST00000549461.3, ENST00000700558.2, ENST00000700559.2 ) - Associated Disease
- Arrhythmogenic Right Ventricular Dysplasia
- Source Database
- DisGeNET
- Description
- The introduction of the PKP2 R735X mutation into mice resulted in an exercise-dependent ARVC phenotype.
- Pubmed
- 25857910
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.163220184922405
- Year of publication
- 2015
Drugs