Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137852944
rs137852944
Entrez Id: 5314
Gene Symbol: PKHD1
PKHD1
CUI: C0085548
Disease:
Autosomal Recessive Polycystic Kidney Disease
0.810 GeneticVariation UNIPROT The gene mutated in autosomal recessive polycystic kidney disease encodes a large, receptor-like protein. 11919560 2002