Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5314
Gene Symbol: PKHD1
PKHD1
0.060 Biomarker disease BEFREE Mutation in the Pkhd1 gene that encodes a ciliary protein, fibrocystin, causes multiple cysts in the kidneys and liver in the polycystic kidney (PCK) rat, a model for human autosomal recessive PCK disease. 22647734 2012
Entrez Id: 5314
Gene Symbol: PKHD1
PKHD1
0.060 AlteredExpression disease BEFREE Microarray expression analysis of kidneys from 30-day-old PCK rats revealed increased expression of genes previously identified in PKD renal expression profiles, such as inflammatory response, extracellular matrix synthesis, and cell proliferation genes among others, whereas the FHH.Pkhd1 did not show activation of these common markers of disease. 22669842 2012
Entrez Id: 5314
Gene Symbol: PKHD1
PKHD1
0.060 GeneticVariation disease BEFREE Mutations in PKHD1 (polycystic kidney and hepatic disease gene 1) gene cause the autosomal recessive polycystic kidney disease (ARPKD). 21300060 2011
Entrez Id: 5314
Gene Symbol: PKHD1
PKHD1
0.060 GeneticVariation disease BEFREE Mutations in PKHD1 (polycystic kidney and hepatic disease gene 1) gene cause the autosomal recessive polycystic kidney disease (ARPKD). 20709014 2010
Entrez Id: 5314
Gene Symbol: PKHD1
PKHD1
0.060 Biomarker disease BEFREE Mutation of the polycystic kidney and hepatic disease gene 1 (PKHD1) was identified as the cause of ARPKD. 19524688 2009
Entrez Id: 5314
Gene Symbol: PKHD1
PKHD1
0.060 GeneticVariation disease BEFREE Syndrome of autosomal recessive polycystic kidneys with skeletal and facial anomalies is not linked to the ARPKD gene locus on chromosome 6p. 10607948 2000