DisGeNET - a database of gene-disease associations

Source: CURATED

Disease: Polycystic Kidney - body part ×

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:	C1567435
Disease:	Polycystic Kidney - body part

Polycystic Kidney - body part

0.350

Biomarker

CTD_human

Histone deacetylase 6 inhibition reduces cysts by decreasing cAMP and Ca²⁺ in knock-out mouse models of polycystic kidney disease.

28887310

2017

Entrez Id:	5310
Gene Symbol:	PKD1

PKD1

CUI:	C1567435
Disease:	Polycystic Kidney - body part

Polycystic Kidney - body part

0.350

Biomarker

CTD_human

Therapeutic targeting of BET bromodomain protein, Brd4, delays cyst growth in ADPKD.

25877301

2015

Entrez Id:	5310
Gene Symbol:	PKD1

PKD1

CUI:	C1567435
Disease:	Polycystic Kidney - body part

Polycystic Kidney - body part

0.350

Biomarker

CTD_human

Kidney-specific inactivation of the Pkd1 gene induces rapid cyst formation in developing kidneys and a slow onset of disease in adult mice.

17932118

2007