Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5310
Gene Symbol: PKD1
PKD1 		0.900 Biomarker group CLINGEN Expression of PKD1 and PKD2 transcripts and proteins in human embryo and during normal kidney development. 11891195 2002
Entrez Id: 5310
Gene Symbol: PKD1
PKD1 		0.900 Biomarker group CLINGEN Presence of de novo mutations in autosomal dominant polycystic kidney disease patients without family history. 18640754 2008
Entrez Id: 5310
Gene Symbol: PKD1
PKD1 		0.900 Biomarker group CLINGEN Mutations in the PKD1 gene on the short arm of chromosome 16 account for 85%-90% of polycystic kidney disease patients in the Caucasian population. 8792818 1996
Entrez Id: 5310
Gene Symbol: PKD1
PKD1 		0.900 Biomarker group CLINGEN Polycystin-1, the gene product of PKD1, induces resistance to apoptosis and spontaneous tubulogenesis in MDCK cells. 11106764 2000
Entrez Id: 5310
Gene Symbol: PKD1
PKD1 		0.900 Biomarker group CLINGEN Autosomal dominant polycystic kidney disease: comprehensive mutation analysis of PKD1 and PKD2 in 700 unrelated patients. 22508176 2012
Entrez Id: 5310
Gene Symbol: PKD1
PKD1 		0.900 Biomarker group CLINGEN Thirteen novel mutations of the replicated region of PKD1 in an Asian population. 11012875 2000
Entrez Id: 5310
Gene Symbol: PKD1
PKD1 		0.900 Biomarker group CLINGEN The polycystic kidney disease 1 gene encodes a 14 kb transcript and lies within a duplicated region on chromosome 16. The European Polycystic Kidney Disease Consortium. 8004675 1994
Entrez Id: 5310
Gene Symbol: PKD1
PKD1 		0.900 Biomarker group CLINGEN Functional polycystin-1 dosage governs autosomal dominant polycystic kidney disease severity. 23064367 2012
Entrez Id: 5310
Gene Symbol: PKD1
PKD1 		0.900 Biomarker group CLINGEN Identification and localization of polycystin, the PKD1 gene product. 8981910 1996
Entrez Id: 5310
Gene Symbol: PKD1
PKD1 		0.900 Biomarker group CLINGEN PKD1 and PKD2 are two recently identified genes that are responsible for the vast majority of autosomal polycystic kidney disease, a common inherited disease that causes progressive renal failure. 9192675 1997
Entrez Id: 5310
Gene Symbol: PKD1
PKD1 		0.900 Biomarker group CLINGEN Lowering of Pkd1 expression is sufficient to cause polycystic kidney disease. 15496422 2004
Entrez Id: 5311
Gene Symbol: PKD2
PKD2 		0.700 Biomarker group CLINGEN Human polycystin-2 transgene dose-dependently rescues ADPKD phenotypes in Pkd2 mutant mice. 26435415 2015
Entrez Id: 5311
Gene Symbol: PKD2
PKD2 		0.700 Biomarker group CLINGEN Expression of PKD1 and PKD2 transcripts and proteins in human embryo and during normal kidney development. 11891195 2002
Entrez Id: 5311
Gene Symbol: PKD2
PKD2 		0.700 Biomarker group CLINGEN A spectrum of mutations in the second gene for autosomal dominant polycystic kidney disease (PKD2). 9326320 1997
Entrez Id: 5311
Gene Symbol: PKD2
PKD2 		0.700 Biomarker group CLINGEN Somatic inactivation of Pkd2 results in polycystic kidney disease. 9568711 1998
Entrez Id: 5311
Gene Symbol: PKD2
PKD2 		0.700 Biomarker group CLINGEN A novel frameshift mutation induced by an adenosine insertion in the polycystic kidney disease 2 (PKD2) gene. 9573526 1998
Entrez Id: 5311
Gene Symbol: PKD2
PKD2 		0.700 Biomarker group CLINGEN Seven novel mutations of the PKD2 gene in families with autosomal dominant polycystic kidney disease. 10411676 1999
Entrez Id: 5311
Gene Symbol: PKD2
PKD2 		0.700 Biomarker group CLINGEN Novel PKD1 and PKD2 mutations in Taiwanese patients with autosomal dominant polycystic kidney disease. 23985799 2013
Entrez Id: 5311
Gene Symbol: PKD2
PKD2 		0.700 Biomarker group CLINGEN PKD1 and PKD2 are two recently identified genes that are responsible for the vast majority of autosomal polycystic kidney disease, a common inherited disease that causes progressive renal failure. 9192675 1997
Entrez Id: 5311
Gene Symbol: PKD2
PKD2 		0.700 Biomarker group CLINGEN Cellular and subcellular distribution of polycystin-2, the protein product of the PKD2 gene. 10770959 2000
Entrez Id: 5311
Gene Symbol: PKD2
PKD2 		0.700 Biomarker group CLINGEN Novel Mutations in the PKD1 and PKD2 Genes of Chinese Patients with Autosomal Dominant Polycystic Kidney Disease. 29529603 2018
Entrez Id: 5311
Gene Symbol: PKD2
PKD2 		0.700 Biomarker group CLINGEN PKD2, a gene for polycystic kidney disease that encodes an integral membrane protein. 8650545 1996
Entrez Id: 5311
Gene Symbol: PKD2
PKD2 		0.700 Biomarker group CLINGEN PKD2 functions as an epidermal growth factor-activated plasma membrane channel. 16135816 2005
Entrez Id: 5373
Gene Symbol: PMM2
PMM2 		0.300 Biomarker group GENOMICS_ENGLAND Polycystic Kidney Disease with Hyperinsulinemic Hypoglycemia Caused by a Promoter Mutation in Phosphomannomutase 2. 28373276 2017
Entrez Id: 51726
Gene Symbol: DNAJB11
DNAJB11 		0.300 Biomarker group GENOMICS_ENGLAND Monoallelic Mutations to DNAJB11 Cause Atypical Autosomal-Dominant Polycystic Kidney Disease. 29706351 2018