×
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