Annotation Detail

Information
Associated Genes
SLC22A5
Associated Variants
SLC22A5 MUTATION
SLC22A5 MUTATION
Associated Disease
long QT syndrome
Source Database
DisGeNET
Description
Our results support the use of genetic testing of KCNQ1, KCNH2, and SCN5A as part of the diagnosis of LQTS and to help identify relatives at risk of SCD.
Pubmed
24667783
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
10
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.00135720936040152
Drugs