Annotation Detail
Information
- Associated Genes
- INS
- Associated Variants
-
INS MUTATION
INS MUTATION - Associated Disease
- Overweight
- Source Database
- DisGeNET
- Description
- MC4R variants were detected in three patients: the known I169S variant was found in heterozygote state in two patients and a novel heterozygous Y302F mutation was detected in one 12-year-old girl (BMI = 34 kg/m(2), BMI z-score 2.7) who has been overweight since the second year of life and suffered from hyperinsulinemia (at the age of 12: fasting insulin 45 mU/ml, after oral glucose load max.
- Pubmed
- 19214805
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.011672000499453
- Year of publication
- 2009
Drugs