Source: MGD

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5314
Gene Symbol: PKHD1
PKHD1
CUI: C0085548
Disease: Autosomal Recessive Polycystic Kidney Disease
Autosomal Recessive Polycystic Kidney Disease 		1.000 Biomarker MGD To determine the molecular mechanism of the cystogenesis in ARPKD, we recently generated a mouse model for ARPKD that carries a targeted mutation in the mouse orthologue of human PKHD1. 20875407

2011
Entrez Id: 5314
Gene Symbol: PKHD1
PKHD1
CUI: C0085548
Disease: Autosomal Recessive Polycystic Kidney Disease
Autosomal Recessive Polycystic Kidney Disease 		1.000 Biomarker MGD Mutations in the PKHD1 gene, which encodes fibrocystin, cause autosomal recessive polycystic kidney disease (ARPKD). 22021705

2011
Entrez Id: 5314
Gene Symbol: PKHD1
PKHD1
CUI: C0085548
Disease: Autosomal Recessive Polycystic Kidney Disease
Autosomal Recessive Polycystic Kidney Disease 		1.000 Biomarker MGD Polycystin-2 expression is regulated by a PC2-binding domain in the intracellular portion of fibrocystin. 18782757

2008
Entrez Id: 5314
Gene Symbol: PKHD1
PKHD1
CUI: C0085548
Disease: Autosomal Recessive Polycystic Kidney Disease
Autosomal Recessive Polycystic Kidney Disease 		1.000 Biomarker MGD For investigation of this, a mouse model with a gene-targeted mutation in Pkhd1 that recapitulates phenotypic characteristics of human autosomal recessive polycystic kidney disease was produced. 18235088

2008
Entrez Id: 5314
Gene Symbol: PKHD1
PKHD1
CUI: C0085548
Disease: Autosomal Recessive Polycystic Kidney Disease
Autosomal Recessive Polycystic Kidney Disease 		1.000 Biomarker MGD We produced a mouse model of ARPKD by replacing exons 1-3 of Pkhd1 with a lacZ reporter gene utilizing homologous recombination. 18286309

2008
Entrez Id: 5314
Gene Symbol: PKHD1
PKHD1
CUI: C0085548
Disease: Autosomal Recessive Polycystic Kidney Disease
Autosomal Recessive Polycystic Kidney Disease 		1.000 Biomarker MGD Genetic interaction studies link autosomal dominant and recessive polycystic kidney disease in a common pathway. 17575307

2007
Entrez Id: 5314
Gene Symbol: PKHD1
PKHD1
CUI: C0085548
Disease: Autosomal Recessive Polycystic Kidney Disease
Autosomal Recessive Polycystic Kidney Disease 		1.000 Biomarker MGD The aim of our study was to produce a mouse model of ARPKD in which there was no functional fibrocystin/polyductin to study the pathophysiology of cystic and fibrocystic disease in renal and non-renal tissues. 17519956

2007