Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5314
Gene Symbol: PKHD1
PKHD1
0.100 Biomarker disease BEFREE Kidney cysts can manifest as focal disease (simple and complex kidney cysts), affect a whole kidney (eg, multicystic dysplastic kidney or cystic dysplasia), or manifest as bilateral cystic disease (eg, autosomal recessive polycystic kidney disease [ARPKD] or autosomal dominant polycystic kidney disease [ADPKD]). 30599104 2019
Entrez Id: 5314
Gene Symbol: PKHD1
PKHD1
0.100 GeneticVariation disease BEFREE Autosomal recessive polycystic kidney disease (ARPKD) and autosomal dominant polycystic kidney disease (ADPKD) are genetically distinct, with ADPKD usually caused by the genes <i>PKD1</i> or <i>PKD2</i> (encoding polycystin-1 and polycystin-2, respectively) and ARPKD caused by <i>PKHD1</i> (encoding fibrocystin/polyductin [FPC]). 31427367 2019
Entrez Id: 5314
Gene Symbol: PKHD1
PKHD1
0.100 Biomarker disease BEFREE Based on our earlier finding that glutamine pathways are reprogrammed in ARPKD, and given the connection between arginine and glutamine synthetic pathways via citrulline, we investigated the possibility of arginine reprogramming in ADPKD. 30280600 2018
Entrez Id: 5314
Gene Symbol: PKHD1
PKHD1
0.100 Biomarker disease BEFREE We then determined if inhibiting GLS1 in vivo with CB-839 in the Aqp2-Cre; Pkd1fl/fl and Pkhd1-Cre; Pkd1fl/fl mouse models of ADPKD slowed cyst growth. 29420817 2018
Entrez Id: 5314
Gene Symbol: PKHD1
PKHD1
0.100 GeneticVariation disease BEFREE PLD associated with ADPKD and ARPKD belong to a group of disorders known as cholangiociliopathies since many disease-causative and disease-related proteins are expressed in primary cilia of cholangiocytes. 25915482 2017
Entrez Id: 5314
Gene Symbol: PKHD1
PKHD1
0.100 Biomarker disease BEFREE Pharmacologic inhibition or shRNA knockdown of ILK prevented periostin-induced Akt/mammalian target of rapamycin (mTOR) signaling and ADPKD cell proliferation <i>in vitro</i> Homozygous deletion of ILK in renal collecting ducts (CD) of <i>Ilk<sup>fl/fl</sup></i> ;<i>Pkhd1-Cre</i> mice caused tubule dilations, apoptosis, fibrosis, and organ failure by 10 weeks of age. 28522687 2017
Entrez Id: 5314
Gene Symbol: PKHD1
PKHD1
0.100 Biomarker disease BEFREE In some patients, however, ADPKD and ARPKD can phenotypically overlap with early manifestation in ADPKD and only late onset in ARPKD. 28952822 2017
Entrez Id: 5314
Gene Symbol: PKHD1
PKHD1
0.100 Biomarker disease BEFREE The genetic basis of both ADPKD and ARPKD have been identified, and delineation of the basic molecular and cellular pathophysiology has led to the discovery that abnormal ADPKD and ARPKD gene products interact to create "polycystin complexes" located at multiple sites within affected cells. 24336431 2014
Entrez Id: 5314
Gene Symbol: PKHD1
PKHD1
0.100 Biomarker disease BEFREE Antagonists of relevant Gs protein-coupled and agonists of relevant Gi protein-coupled receptors lower renal cAMP and inhibit growth of renal cysts in animal models of human ARPKD (PCK rat) and/or ADPKD (Pkd2(-/WS25) mouse). 18826972 2009
Entrez Id: 5314
Gene Symbol: PKHD1
PKHD1
0.100 Biomarker disease BEFREE They demonstrate that levels of the miRNA miR15a are decreased in livers of patients with autosomal recessive and autosomal dominant polycystic kidney disease (ARPKD and ADPKD, respectively) and congenital hepatic fibrosis as well as in the PKC rat model of ARPKD. 18949060 2008
Entrez Id: 5314
Gene Symbol: PKHD1
PKHD1
0.100 GeneticVariation disease BEFREE In addition, mice with mutations in both Pkhd1 and Pkd2 had a more severe renal cystic phenotype than mice with single mutations, suggesting that FPC acts as a genetic modifier for disease severity in autosomal dominant polycystic kidney disease that results from Pkd2 mutations. 18235088 2008