Annotation Detail
Information
- Associated Genes
- INS
- Associated Variants
-
INS MUTATION
INS MUTATION - Associated Disease
- Neonatal diabetes mellitus
- Source Database
- DisGeNET
- Description
- We have previously shown that amino acid changes in the human Kruppel-Like Factor (KLF) 11 protein is associated with the development of maturity onset diabetes of the young VII, whereas complete inactivation of this pathway by the -331 human insulin mutation causes neonatal diabetes mellitus.
- Pubmed
- 26248217
- Section of the abstract supporting the evidence
- ALL_TEXT_1/3
- Number of the section of the abstract supporting the evidence
- 1
- Number of the sentence supporting the evidence
- 1
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.0198152566618621
Drugs