Annotation Detail
Information
- Associated Genes
- PKHD1
- Associated Variants
-
PKHD1 p.Ser1664Phe (p.S1664F)
(
ENST00000340994.4,
ENST00000371117.8 )
PKHD1 p.Ser1664Phe (p.S1664F) ( ENST00000340994.4, ENST00000371117.8 ) - Associated Disease
- autosomal recessive polycystic kidney disease
- Source Database
- DisGeNET
- Description
- Spectrum of mutations in the gene for autosomal recessive polycystic kidney disease (ARPKD/PKHD1).
- Pubmed
- 12506140
- Original source reporting the Gene Disease association
- UNIPROT
- DisGENET score for the Gene Disease association
- 0.672904055651701
- Year of publication
- 2003
Drugs