Annotation Detail
Information
- Associated Genes
- ABCC8
- Associated Variants
-
ABCC8 MUTATION
ABCC8 MUTATION - Associated Disease
- hypoglycemia
- Source Database
- DisGeNET
- Description
- Sirolimus therapy in a patient with severe hyperinsulinaemic hypoglycaemia due to a compound heterozygous ABCC8 gene mutation.
- Pubmed
- 25518065
- Section of the abstract supporting the evidence
- TITLE
- Number of the section of the abstract supporting the evidence
- 0
- Number of the sentence supporting the evidence
- 0
- Original source reporting the Gene Disease association
- BeFree,GAD,LHGDN,RGD
- DisGENET score for the Gene Disease association
- 0.0947972762675036
Drugs