Annotation Detail
Information
- Associated Genes
- MC4R
- Associated Variants
-
MC4R p.Ile316Ser (p.I316S)
(
ENST00000299766.5 )
MC4R p.Ile316Ser (p.I316S) ( ENST00000299766.5 ) - Associated Disease
- hyperinsulinism
- Source Database
- DisGeNET
- Description
- Homozygous MC4R mutations, M161T and I316S, identified separately in 2 subjects (3.2%), were associated with severe obesity, hyperphagia, hyperleptinemia and hyperinsulinemia.
- Pubmed
- 22463805
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.124267125083164
- Year of publication
- 2012
Drugs