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, Autosomal Dominant
- Source Database
- DisGeNET
- Description
- The kidney volumes and the number and size of renal and hepatic cysts were markedly less in a member of this family with ADPKD (PKD1 mutation C508R) and CF (homozygous DeltaF508 mutation) than in her sister with ADPKD alone at comparable ages.
- Pubmed
- 17048214
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.346886184160807
- Year of publication
- 2006
Drugs