Annotation Detail
Information
- Associated Genes
- PKD1
- Associated Variants
-
PKD1 p.Cys508Arg (p.C508R)
(
ENST00000423118.5,
ENST00000262304.9 )
PKD1 p.Cys508Arg (p.C508R) ( ENST00000262304.9, ENST00000423118.5 ) - Associated Disease
- polycystic kidney disease 1
- Source Database
- DisGeNET
- Description
- Association of mutation position in polycystic kidney disease 1 (PKD1) gene and development of a vascular phenotype.
- Pubmed
- 12842373
- Original source reporting the Gene Disease association
- UNIPROT
- DisGENET score for the Gene Disease association
- 0.204538566955244
- Year of publication
- 2003
Drugs