Annotation Detail
Information
- Associated Genes
- LEP
- Associated Variants
-
LEP p.Arg105Trp (p.R105W)
(
ENST00000308868.5 )
LEP p.Arg105Trp (p.R105W) ( ENST00000308868.5 ) - Associated Disease
- LEPTIN DEFICIENCY OR DYSFUNCTION
- Source Database
- DisGeNET
- Description
- A leptin missense mutation associated with hypogonadism and morbid obesity.
- Pubmed
- 9500540
- Original source reporting the Gene Disease association
- UNIPROT
- DisGENET score for the Gene Disease association
- 0.367600372418248
- Year of publication
- 1998
Drugs