Annotation Detail

Information
Associated Genes
P2RX7
Associated Variants
P2RX7 MUTATION
P2RX7 MUTATION
Associated Disease
Diabetes
Source Database
DisGeNET
Description
In the Prevalence, Prediction, and Prevention of Diabetes in Botnia study, the minor allele in the missense functional variant rs1718119 (rs1718119>A348T) in P2RX7 was associated with increased insulin sensitivity and secretion, consistent with its known effect on increased pore function.
Pubmed
25719930
Section of the abstract supporting the evidence
RESULTS
Number of the section of the abstract supporting the evidence
4
Number of the sentence supporting the evidence
8
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.000542883744160607
Drugs