Annotation Detail
Information
- Associated Genes
- KCNE1
- Associated Variants
-
KCNE1 p.Thr7Ile (p.T7I)
(
ENST00000337385.7,
ENST00000399284.1,
ENST00000399286.3,
ENST00000399289.7,
ENST00000416357.6,
ENST00000432085.5,
ENST00000611936.1,
ENST00000621601.4 )
KCNE1 p.Thr7Ile (p.T7I) ( ENST00000337385.7, ENST00000399284.1, ENST00000399286.3, ENST00000399289.7, ENST00000416357.6, ENST00000432085.5, ENST00000611936.1, ENST00000621601.4 ) - Associated Disease
- JERVELL AND LANGE-NIELSEN SYNDROME 2 (disorder)
- Source Database
- DisGeNET
- Description
- Post-translational N-glycosylation of type I transmembrane KCNE1 peptides: implications for membrane protein biogenesis and disease.
- Pubmed
- 21676880
- Original source reporting the Gene Disease association
- UNIPROT
- DisGENET score for the Gene Disease association
- 0.36
- Year of publication
- 2011
Drugs