Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5310
Gene Symbol: PKD1
PKD1
0.350 AlteredExpression disease BEFREE Immunohistochemical studies have shown that polycystin 1 and polycystin 2 are developmentally regulated and are overexpressed in polycystic kidneys. 9529618 1998
Entrez Id: 5310
Gene Symbol: PKD1
PKD1
0.350 Biomarker disease BEFREE A contiguous gene syndrome involving PKD1 and TSC2 should be suspected in children with TSC and enlarged polycystic kidneys at birth. 9631851 1998
Entrez Id: 5310
Gene Symbol: PKD1
PKD1
0.350 Biomarker disease BEFREE Homozygous Pkd1(nl) mice are viable, showing bilaterally enlarged polycystic kidneys. 15496422 2004
Entrez Id: 5310
Gene Symbol: PKD1
PKD1
0.350 Biomarker disease 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
Entrez Id: 5310
Gene Symbol: PKD1
PKD1
0.350 GeneticVariation disease BEFREE Patients with TSC often develop renal cysts and those with inherited co-deletions of the autosomal dominant polycystic kidney disease (ADPKD) 1 gene (PKD1) develop severe, early onset, polycystic kidneys. 19321600 2009
Entrez Id: 5310
Gene Symbol: PKD1
PKD1
0.350 Biomarker disease BEFREE Here, we report a sustained activation of the transcription factor signal transducer and activator of transcription 3 (STAT3) in ischemic injured and uninjured Pkd1 knockout polycystic kidneys and in human ADPKD kidneys. 21821671 2011
Entrez Id: 5310
Gene Symbol: PKD1
PKD1
0.350 Biomarker disease CTD_human Therapeutic targeting of BET bromodomain protein, Brd4, delays cyst growth in ADPKD. 25877301 2015
Entrez Id: 5310
Gene Symbol: PKD1
PKD1
0.350 Biomarker disease CTD_human Histone deacetylase 6 inhibition reduces cysts by decreasing cAMP and Ca2+ in knock-out mouse models of polycystic kidney disease. 28887310 2017