Annotation Detail

Information
Associated Genes
ABCC8
Associated Variants
ABCC8 MUTATION
ABCC8 MUTATION
Associated Disease
Thyrotoxic periodic paralysis
Source Database
DisGeNET
Description
We suggest that the hyperinsulinaemia that is observed in TPP may be linked to the ATP-sensitive K(+)/SUR1 alanine variant and, therefore, contribute to the major feedforward precipitating factors in the pathophysiology of TPP.
Pubmed
25143473
Section of the abstract supporting the evidence
ALL_TEXT_3/3
Number of the section of the abstract supporting the evidence
3
Number of the sentence supporting the evidence
8
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.000271441872080303
Drugs