Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5314
Gene Symbol: PKHD1
PKHD1
0.320 Biomarker disease BEFREE In patients with ARPKD or other ciliopathies, abdominal US is needed for diagnosis and screening of portal hypertension. 30599104 2019
Entrez Id: 5314
Gene Symbol: PKHD1
PKHD1
0.320 GeneticVariation disease BEFREE We conclude that the homozygous pathogenic mutation in PKHD1 underlies the ciliopathy phenotype in this patient. 25966130 2015
Entrez Id: 5314
Gene Symbol: PKHD1
PKHD1
0.320 Biomarker disease GENOMICS_ENGLAND