Annotation Detail
Information
- Associated Genes
- MC4R
- Associated Variants
-
MC4R p.Gly181Asp (p.G181D)
(
ENST00000299766.5 )
MC4R p.Arg165Trp (p.R165W) ( ENST00000299766.5 )
MC4R p.Gly181Asp (p.G181D) ( ENST00000299766.5 )
MC4R p.Arg165Trp (p.R165W) ( ENST00000299766.5 ) - Associated Disease
- obesity
- Source Database
- DisGeNET
- Description
- This study shows a carrier frequency of 2.5% of pathogenic mutations in the MC4R gene in a population-based study of obese men.
- Pubmed
- 15486053
- Original source reporting the Gene Disease association
- UNIPROT
- DisGENET score for the Gene Disease association
- 0.790574886740879
- Year of publication
- 2005
Drugs