Annotation Detail
Information
- Associated Genes
- LEP
- Associated Variants
-
LEP MUTATION
LEP MUTATION - Associated Disease
- Hyperphagia
- Source Database
- DisGeNET
- Description
- We now describe two siblings, a 9-year-old girl and a 6-year-old boy with severe early-onset obesity and hyperphagia, both homozygous for a c.309C>A substitution in the leptin gene leading to a p.N103K amino acid exchange in the protein and detectable circulating levels of leptin.
- Pubmed
- 26186301
- Section of the abstract supporting the evidence
- CASE DESCRIPTION
- Number of the section of the abstract supporting the evidence
- 2
- Number of the sentence supporting the evidence
- 3
- Original source reporting the Gene Disease association
- BeFree,CTD_human
- DisGENET score for the Gene Disease association
- 0.122442976848723
Drugs