Annotation Detail

Information
Associated Genes
KCNE1
Associated Variants
KCNE1 p.Asp85Asn (p.D85N) ( ENST00000416357.6, ENST00000399284.1, ENST00000399286.3, ENST00000337385.7, ENST00000399289.7, ENST00000432085.5, ENST00000611936.1, ENST00000621601.4 )
KCNE1 p.Asp85Asn (p.D85N) ( ENST00000337385.7, ENST00000399284.1, ENST00000399286.3, ENST00000399289.7, ENST00000416357.6, ENST00000432085.5, ENST00000611936.1, ENST00000621601.4 )
Associated Disease
cardiac arrest
Source Database
DisGeNET
Description
Aborted cardiac arrest in a patient carrying KCNE1 D85N variant during the postpartum period.
Pubmed
20823649
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.000542883744160607
Year of publication
2010
Drugs