Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 23193
Gene Symbol: GANAB
GANAB
0.640 GermlineCausalMutation disease ORPHANET Because PRKCSH encodes GIIβ, GANAB is a strong ADPKD and ADPLD candidate gene. 27259053 2016
Entrez Id: 5311
Gene Symbol: PKD2
PKD2
1.000 CausalMutation disease CLINVAR Polycystin-1 maturation requires polycystin-2 in a dose-dependent manner. 25574838 2015
Entrez Id: 5311
Gene Symbol: PKD2
PKD2
1.000 CausalMutation disease CLINVAR 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
1.000 CausalMutation disease CLINVAR Molecular diagnosis of autosomal dominant polycystic kidney disease using next-generation sequencing. 24374109 2014
Entrez Id: 5311
Gene Symbol: PKD2
PKD2
1.000 CausalMutation disease CLINVAR Epidemiology of autosomal-dominant polycystic kidney disease: an in-depth clinical study for south-western Germany. 23300259 2013
Entrez Id: 5311
Gene Symbol: PKD2
PKD2
1.000 CausalMutation disease CLINVAR PKD2-Related Autosomal Dominant Polycystic Kidney Disease: Prevalence, Clinical Presentation, Mutation Spectrum, and Prognosis. 28356211 2017
Entrez Id: 5311
Gene Symbol: PKD2
PKD2
1.000 CausalMutation disease CLINVAR Novel method for genomic analysis of PKD1 and PKD2 mutations in autosomal dominant polycystic kidney disease. 18837007 2009
Entrez Id: 5311
Gene Symbol: PKD2
PKD2
1.000 CausalMutation disease CLINVAR Location of mutations within the PKD2 gene influences clinical outcome. 10760080 2000
Entrez Id: 5311
Gene Symbol: PKD2
PKD2
1.000 CausalMutation disease CLINVAR Identification of gene mutations in autosomal dominant polycystic kidney disease through targeted resequencing. 22383692 2012
Entrez Id: 5311
Gene Symbol: PKD2
PKD2
1.000 CausalMutation disease CLINVAR PKD2, a gene for polycystic kidney disease that encodes an integral membrane protein. 8650545 1996
Entrez Id: 5311
Gene Symbol: PKD2
PKD2
1.000 CausalMutation disease CLINVAR Diagnosis of autosomal dominant polycystic kidney disease using efficient PKD1 and PKD2 targeted next-generation sequencing. 25333066 2014
Entrez Id: 5311
Gene Symbol: PKD2
PKD2
1.000 CausalMutation disease CLINVAR Autosomal dominant polycystic kidney disease: comprehensive mutation analysis of PKD1 and PKD2 in 700 unrelated patients. 22508176 2012
Entrez Id: 5311
Gene Symbol: PKD2
PKD2
1.000 CausalMutation disease CLINVAR [Mutation detection of PKD2 gene in Chinese by denaturing high-performance liquid chromatograph]. 15192819 2004
Entrez Id: 5311
Gene Symbol: PKD2
PKD2
1.000 CausalMutation disease CLINVAR System analysis of gene mutations and clinical phenotype in Chinese patients with autosomal-dominant polycystic kidney disease. 27782177 2016
Entrez Id: 5311
Gene Symbol: PKD2
PKD2
1.000 CausalMutation disease CLINVAR Clinical utility of PKD2 mutation testing in a polycystic kidney disease cohort attending a specialist nephrology out-patient clinic. 22863349 2012
Entrez Id: 5311
Gene Symbol: PKD2
PKD2
1.000 CausalMutation disease CLINVAR Aberrant splicing in the PKD2 gene as a cause of polycystic kidney disease. 10541293 1999
Entrez Id: 5311
Gene Symbol: PKD2
PKD2
1.000 CausalMutation disease CLINVAR Deciphering Variability of PKD1 and PKD2 in an Italian Cohort of 643 Patients with Autosomal Dominant Polycystic Kidney Disease (ADPKD). 27499327 2016
Entrez Id: 5311
Gene Symbol: PKD2
PKD2
1.000 CausalMutation disease CLINVAR Genetics and phenotypic characteristics of autosomal dominant polycystic kidney disease in Finns. 15772804 2005
Entrez Id: 5311
Gene Symbol: PKD2
PKD2
1.000 CausalMutation disease CLINVAR PKD2 gene mutation analysis in Korean autosomal dominant polycystic kidney disease patients using two-dimensional gene scanning. 17100995 2006
Entrez Id: 5311
Gene Symbol: PKD2
PKD2
1.000 CausalMutation disease CLINVAR Comprehensive molecular diagnostics in autosomal dominant polycystic kidney disease. 17582161 2007
Entrez Id: 5311
Gene Symbol: PKD2
PKD2
1.000 CausalMutation disease CLINVAR Genotype-renal function correlation in type 2 autosomal dominant polycystic kidney disease. 12707387 2003
Entrez Id: 5311
Gene Symbol: PKD2
PKD2
1.000 CausalMutation disease CLINVAR Four novel mutations of the PKD2 gene in Czech families with autosomal dominant polycystic kidney disease. 11968093 2002
Entrez Id: 5311
Gene Symbol: PKD2
PKD2
1.000 CausalMutation disease CLINVAR Increased prevalence of polycystic kidney disease type 2 among elderly polycystic patients. 11007674 2000
Entrez Id: 5311
Gene Symbol: PKD2
PKD2
1.000 CausalMutation disease CLINVAR Tuberous sclerosis complex and polycystic kidney disease together: an exception to the contiguous gene syndrome. 16540757 2006
Entrez Id: 5310
Gene Symbol: PKD1
PKD1
0.900 CausalMutation disease CLINVAR