Annotation Detail
Information
- Associated Genes
- ATP1A3
- Associated Variants
-
ATP1A3 p.Glu831Lys (p.E831K), ENSG00000285505 p.Glu818Lys (p.E818K)
(
ENST00000602133.5,
ENST00000545399.6,
ENST00000543770.5,
ENST00000648268.1 )
ATP1A3 p.Glu831Lys (p.E831K), ENSG00000285505 p.Glu818Lys (p.E818K) ( ENST00000543770.5, ENST00000545399.6, ENST00000602133.5, ENST00000648268.1 ) - Associated Disease
- CAPOS syndrome
- Source Database
- DisGeNET
- Description
- NA
- Original source reporting the Gene Disease association
- CLINVAR
- DisGENET score for the Gene Disease association
- 0.360542883744161
- Year of publication
- NA
Drugs