Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5310
Gene Symbol: PKD1
PKD1
Polycystic Kidney, Autosomal Dominant
0.900 Biomarker MGD These models effectively mimic the pathophysiological features of in utero-onset and typical ADPKD, respectively, correlating the level of functional Pkd1 product with disease severity, highlighting the dosage dependence of cystogenesis. 23064367

2012

Entrez Id: 5310
Gene Symbol: PKD1
PKD1
Polycystic Kidney, Autosomal Dominant
0.900 Biomarker MGD A complete loss of Gpsm1 in the Pkd1(V/V) mouse model of ADPKD, which displays a hypomorphic phenotype of polycystin-1, demonstrated increased cyst progression and reduced renal function compared with age-matched cystic Gpsm1(+/+) and Gpsm1(+/-) mice. 23236168

2012

Entrez Id: 5310
Gene Symbol: PKD1
PKD1
Polycystic Kidney, Autosomal Dominant
0.900 Biomarker MGD Pkd1 and Nek8 mutations affect cell-cell adhesion and cilia in cysts formed in kidney organ cultures. 17928412

2008

Entrez Id: 5310
Gene Symbol: PKD1
PKD1
Polycystic Kidney, Autosomal Dominant
0.900 Biomarker MGD A mouse model for polycystic kidney disease through a somatic in-frame deletion in the 5' end of Pkd1. 18385665

2008

Entrez Id: 5310
Gene Symbol: PKD1
PKD1
Polycystic Kidney, Autosomal Dominant
0.900 Biomarker MGD This new line of mice will be invaluable in the study of Pkd1 biology and serve as a powerful new tool that can be used to study the pathogenesis of autosomal dominant polycystic kidney disease. 15579506

2004

Entrez Id: 5310
Gene Symbol: PKD1
PKD1
Polycystic Kidney, Autosomal Dominant
0.900 Biomarker MGD In addition, homozygous Pkd1(nl) mice showed dilatations of pancreatic and liver bile ducts, and the mice had cardiovascular abnormalities, pathogenic features similar to the human ADPKD phenotype. 15496422

2004

Entrez Id: 5310
Gene Symbol: PKD1
PKD1
Polycystic Kidney, Autosomal Dominant
0.900 Biomarker MGD Polycystins 1 and 2 mediate mechanosensation in the primary cilium of kidney cells. 12514735

2003

Entrez Id: 5310
Gene Symbol: PKD1
PKD1
Polycystic Kidney, Autosomal Dominant
0.900 Biomarker MGD Autosomal dominant polycystic kidney disease is characterized by cyst formation in the kidney and other organs and results from mutations of PKD1 or PKD2. 12007403

2002

Entrez Id: 5310
Gene Symbol: PKD1
PKD1
Polycystic Kidney, Autosomal Dominant
0.900 Biomarker MGD We show further that del34 homozygotes continue to produce mutant polycystin-1, thereby providing a possible explanation for increased immunoreactive polycystin-1 in ADPKD cyst epithelia in the context of the two-hit model. 11689485

2001

Entrez Id: 5310
Gene Symbol: PKD1
PKD1
Polycystic Kidney, Autosomal Dominant
0.900 Biomarker MGD Cardiovascular, skeletal, and renal defects in mice with a targeted disruption of the Pkd1 gene. 11593033

2001

Entrez Id: 5310
Gene Symbol: PKD1
PKD1
Polycystic Kidney, Autosomal Dominant
0.900 Biomarker MGD Late onset of renal and hepatic cysts in Pkd1-targeted heterozygotes. 9988265

1999

Entrez Id: 5310
Gene Symbol: PKD1
PKD1
Polycystic Kidney, Autosomal Dominant
0.900 Biomarker MGD We introduced into mice by homologous recombination a Pkd1 truncation mutation, Pkd1-, that mimics a mutation found in ADPKD. 9326937

1997