DisGeNET - a database of gene-disease associations

Source: MGD

Disease: POLYCYSTIC KIDNEY DISEASE 1 ×

Gene: PKD1 ×

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _g

DPI _g

pLI

EI _gda

EL _gda

Score _gda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Gene

Disease

Score _gda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

Entrez Id:	5310
Gene Symbol:	PKD1

PKD1

CUI:	C3149841
Disease:	POLYCYSTIC KIDNEY DISEASE 1

POLYCYSTIC KIDNEY DISEASE 1

1.000

Biomarker

MGD

Functional polycystin-1 dosage governs autosomal dominant polycystic kidney disease severity.

23064367

2012

Entrez Id:	5310
Gene Symbol:	PKD1

PKD1

CUI:	C3149841
Disease:	POLYCYSTIC KIDNEY DISEASE 1

POLYCYSTIC KIDNEY DISEASE 1

1.000

Biomarker

MGD

G-protein signaling modulator 1 deficiency accelerates cystic disease in an orthologous mouse model of autosomal dominant polycystic kidney disease.

23236168

2012

Entrez Id:	5310
Gene Symbol:	PKD1

PKD1

CUI:	C3149841
Disease:	POLYCYSTIC KIDNEY DISEASE 1

POLYCYSTIC KIDNEY DISEASE 1

1.000

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

CUI:	C3149841
Disease:	POLYCYSTIC KIDNEY DISEASE 1

POLYCYSTIC KIDNEY DISEASE 1

1.000

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

CUI:	C3149841
Disease:	POLYCYSTIC KIDNEY DISEASE 1

POLYCYSTIC KIDNEY DISEASE 1

1.000

Biomarker

MGD

A functional floxed allele of Pkd1 that can be conditionally inactivated in vivo.

15579506

2004

Entrez Id:	5310
Gene Symbol:	PKD1

PKD1

CUI:	C3149841
Disease:	POLYCYSTIC KIDNEY DISEASE 1

POLYCYSTIC KIDNEY DISEASE 1

1.000

Biomarker

MGD

Lowering of Pkd1 expression is sufficient to cause polycystic kidney disease.

15496422

2004

Entrez Id:	5310
Gene Symbol:	PKD1

PKD1

CUI:	C3149841
Disease:	POLYCYSTIC KIDNEY DISEASE 1

POLYCYSTIC KIDNEY DISEASE 1

1.000

Biomarker

MGD

Polycystins 1 and 2 mediate mechanosensation in the primary cilium of kidney cells.

12514735

2003

Entrez Id:	5310
Gene Symbol:	PKD1

PKD1

CUI:	C3149841
Disease:	POLYCYSTIC KIDNEY DISEASE 1

POLYCYSTIC KIDNEY DISEASE 1

1.000

Biomarker

MGD

PKD1 induces p21(waf1) and regulation of the cell cycle via direct activation of the JAK-STAT signaling pathway in a process requiring PKD2.

12007403

2002

Entrez Id:	5310
Gene Symbol:	PKD1

PKD1

CUI:	C3149841
Disease:	POLYCYSTIC KIDNEY DISEASE 1

POLYCYSTIC KIDNEY DISEASE 1

1.000

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

CUI:	C3149841
Disease:	POLYCYSTIC KIDNEY DISEASE 1

POLYCYSTIC KIDNEY DISEASE 1

1.000

Biomarker

MGD

Comparison of Pkd1-targeted mutants reveals that loss of polycystin-1 causes cystogenesis and bone defects.

11689485

2001

Entrez Id:	5310
Gene Symbol:	PKD1

PKD1

CUI:	C3149841
Disease:	POLYCYSTIC KIDNEY DISEASE 1

POLYCYSTIC KIDNEY DISEASE 1

1.000

Biomarker

MGD

Late onset of renal and hepatic cysts in Pkd1-targeted heterozygotes.

9988265

1999

Entrez Id:	5310
Gene Symbol:	PKD1

PKD1

CUI:	C3149841
Disease:	POLYCYSTIC KIDNEY DISEASE 1

POLYCYSTIC KIDNEY DISEASE 1

1.000

Biomarker

MGD

Perinatal lethality with kidney and pancreas defects in mice with a targetted Pkd1 mutation.

9326937

1997