Annotation Detail
Information
- Associated Genes
- LEP
- Associated Variants
-
LEP MUTATION
LEP MUTATION - Associated Disease
- Obesity, Morbid
- Source Database
- DisGeNET
- Description
- Among 73 children with severe obesity (BMI SDS > 3.0), we identified 22 probands and 5 relatives, carrying 10 different loss-of-function homozygous mutations in LEP, leptin receptor (LEPR), and MC4R genes, including 4 novel variants.
- Pubmed
- 26179253
- Section of the abstract supporting the evidence
- RESULTS
- Number of the section of the abstract supporting the evidence
- 3
- Number of the sentence supporting the evidence
- 8
- Original source reporting the Gene Disease association
- BeFree,CTD_human,GAD
- DisGENET score for the Gene Disease association
- 0.128338753164369
Drugs