Annotation Detail
Information
- Associated Genes
- ENPP1
- Associated Variants
-
ENPP1 p.Lys173Gln (p.K173Q)
(
ENST00000647893.1 )
ENPP1 p.Lys173Gln (p.K173Q) ( ENST00000647893.1 ) - Associated Disease
- Diabetes Mellitus, Non-Insulin-Dependent
- Source Database
- DisGeNET
- Description
- Ectoenzyme nucleotide pyrophosphatase phosphodiesterase 1 (ENPP1) inhibits insulin signaling, and a recent meta-analysis reported a nominal association between the Q allele in the K121Q (rs1044498) single nucleotide polymorphism in its gene ENPP1 and type 2 diabetes.
- Pubmed
- 19017751
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.329598490313025
- Year of publication
- 2009
Drugs