Source: CLINGEN

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5311
Gene Symbol: PKD2
PKD2
CUI: C0085413
Disease: Polycystic Kidney, Autosomal Dominant
Polycystic Kidney, Autosomal Dominant 		1.000 Biomarker CLINGEN A total of 93 mutations in PKD1 and PKD2 were identified in 98 Chinese families with ADPKD inheritance and the detection rate was 81.7% (98/120). 29529603

2018
Entrez Id: 5311
Gene Symbol: PKD2
PKD2
CUI: C0085413
Disease: Polycystic Kidney, Autosomal Dominant
Polycystic Kidney, Autosomal Dominant 		1.000 Biomarker CLINGEN Moreover, Pkd2(-/-) mice with homozygous PKD2(tg)-transgene alleles (Pkd2(-/-);PKD2(tg/tg)) showed significant further amelioration of the cystic severity compared to that in Pkd2(-/-) mice with a hemizygous PKD2(tg) allele (Pkd2(-/-);PKD2(tg)), suggesting that the ADPKD phenotype was improved by increased transgene dosage. 26435415

2015
Entrez Id: 5311
Gene Symbol: PKD2
PKD2
CUI: C0085413
Disease: Polycystic Kidney, Autosomal Dominant
Polycystic Kidney, Autosomal Dominant 		1.000 Biomarker CLINGEN Novel PKD1 and PKD2 mutations in Taiwanese patients with autosomal dominant polycystic kidney disease. 23985799

2013
Entrez Id: 5311
Gene Symbol: PKD2
PKD2
CUI: C0085413
Disease: Polycystic Kidney, Autosomal Dominant
Polycystic Kidney, Autosomal Dominant 		1.000 Biomarker CLINGEN PKD2, or polycystin 2, the product of the gene mutated in type 2 autosomal dominant polycystic kidney disease, belongs to the transient receptor potential channel superfamily and has been shown to function as a nonselective cation channel in the plasma membrane. 16135816

2005
Entrez Id: 5311
Gene Symbol: PKD2
PKD2
CUI: C0085413
Disease: Polycystic Kidney, Autosomal Dominant
Polycystic Kidney, Autosomal Dominant 		1.000 Biomarker 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
CUI: C0085413
Disease: Polycystic Kidney, Autosomal Dominant
Polycystic Kidney, Autosomal Dominant 		1.000 Biomarker CLINGEN Mutations in the PKD1 and PKD2 genes account for 85 and 15% of cases of autosomal dominant polycystic kidney disease, respectively. 10770959

2000
Entrez Id: 5311
Gene Symbol: PKD2
PKD2
CUI: C0085413
Disease: Polycystic Kidney, Autosomal Dominant
Polycystic Kidney, Autosomal Dominant 		1.000 Biomarker CLINGEN We report a systematic screening for mutations covering the 15 exons of the PKD2 gene in eight unrelated families with ADPKD type 2, using the heteroduplex technique. 10411676

1999
Entrez Id: 5311
Gene Symbol: PKD2
PKD2
CUI: C0085413
Disease: Polycystic Kidney, Autosomal Dominant
Polycystic Kidney, Autosomal Dominant 		1.000 Biomarker CLINGEN Germline mutations in PKD2 cause autosomal dominant polycystic kidney disease. 9568711

1998
Entrez Id: 5311
Gene Symbol: PKD2
PKD2
CUI: C0085413
Disease: Polycystic Kidney, Autosomal Dominant
Polycystic Kidney, Autosomal Dominant 		1.000 Biomarker 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
CUI: C0085413
Disease: Polycystic Kidney, Autosomal Dominant
Polycystic Kidney, Autosomal Dominant 		1.000 Biomarker 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
CUI: C0085413
Disease: Polycystic Kidney, Autosomal Dominant
Polycystic Kidney, Autosomal Dominant 		1.000 Biomarker CLINGEN Homo- and heterodimeric interactions between the gene products of PKD1 and PKD2. 9192675

1997
Entrez Id: 5311
Gene Symbol: PKD2
PKD2
CUI: C0085413
Disease: Polycystic Kidney, Autosomal Dominant
Polycystic Kidney, Autosomal Dominant 		1.000 Biomarker CLINGEN PKD2, a gene for polycystic kidney disease that encodes an integral membrane protein. 8650545

1996