Annotation Detail
Information
- Associated Genes
- MYH7
- Associated Variants
-
MYH7 p.Arg787His (p.R787H)
(
ENST00000355349.4,
ENST00000713768.1,
ENST00000713769.1 )
MYH7 p.Arg787His (p.R787H) ( ENST00000355349.4, ENST00000713768.1, ENST00000713769.1 ) - Associated Disease
- Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
- Source Database
- DisGeNET
- Description
- Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy.
- Pubmed
- 12707239
- Original source reporting the Gene Disease association
- UNIPROT
- DisGENET score for the Gene Disease association
- 0.36
- Year of publication
- 2003
Drugs