Annotation Detail
Information
- Associated Genes
- MC4R
- Associated Variants
-
MC4R p.Ser127Leu (p.S127L)
(
ENST00000299766.5 )
MC4R p.Ser127Leu (p.S127L) ( ENST00000299766.5 ) - Associated Disease
- obesity
- Source Database
- DisGeNET
- Description
- Identification and characterization of melanocortin-4 receptor gene mutations in morbidly obese finnish children and adults.
- Pubmed
- 14764818
- Original source reporting the Gene Disease association
- UNIPROT
- DisGENET score for the Gene Disease association
- 0.790574886740879
- Year of publication
- 2004
Drugs