Annotation Detail
Information
- Associated Genes
- MYH7
- Associated Variants
-
MYH7 p.Arg1845Trp (p.R1845W)
(
ENST00000713768.1,
ENST00000355349.4,
ENST00000713769.1 )
MYH7 p.Arg1845= (p.R1845=) ( ENST00000713769.1, ENST00000713768.1, ENST00000355349.4 )
MYH7 p.Arg1845Trp (p.R1845W) ( ENST00000355349.4, ENST00000713768.1, ENST00000713769.1 )
MYH7 p.Arg1845= (p.R1845=) ( ENST00000355349.4, ENST00000713768.1, ENST00000713769.1 ) - Associated Disease
- X-linked Emery-Dreifuss muscular dystrophy
- Source Database
- DisGeNET
- Description
- Myosin storage myopathy associated with a heterozygous missense mutation in MYH7.
- Pubmed
- 14520662
- Original source reporting the Gene Disease association
- UNIPROT
- DisGENET score for the Gene Disease association
- 0.36
- Year of publication
- 2003
Drugs