rs9936785
×
Entrez Id:
5310
Gene Symbol:
PKD1
PKD1
POLYCYSTIC KIDNEY DISEASE 1
0.700
GeneticVariation
UNIPROT
rs9925969
×
Entrez Id:
5310
Gene Symbol:
PKD1
PKD1
POLYCYSTIC KIDNEY DISEASE 1
0.700
GeneticVariation
UNIPROT
rs886040959
PKD1;MIR1225;LOC105371049
POLYCYSTIC KIDNEY DISEASE 1
TCACTAGCTT
0.700
CausalMutation
CLINVAR
rs886038369
PKD1;MIR3180-5
POLYCYSTIC KIDNEY DISEASE 1
0.700
GeneticVariation
UNIPROT
Novel mutations of the PKD1 gene in Korean patients with autosomal dominant polycystic kidney disease.
10729710
2000
rs886038369
PKD1;MIR3180-5
POLYCYSTIC KIDNEY DISEASE 1
0.700
GeneticVariation
UNIPROT
Mutation analysis in PKD1 of Japanese autosomal dominant polycystic kidney disease patients.
12007219
2002
rs886038369
PKD1;MIR3180-5
POLYCYSTIC KIDNEY DISEASE 1
0.700
GeneticVariation
UNIPROT
Novel and recurrent mutations in the PKD1 (polycystic kidney disease) gene.
9521593
1998
rs886038369
PKD1;MIR3180-5
POLYCYSTIC KIDNEY DISEASE 1
0.700
GeneticVariation
UNIPROT
Cleavage of polycystin-1 requires the receptor for egg jelly domain and is disrupted by human autosomal-dominant polycystic kidney disease 1-associated mutations.
12482949
2002
rs886038369
PKD1;MIR3180-5
POLYCYSTIC KIDNEY DISEASE 1
0.700
GeneticVariation
UNIPROT
Thirteen novel mutations of the replicated region of PKD1 in an Asian population.
11012875
2000
rs886038369
PKD1;MIR3180-5
POLYCYSTIC KIDNEY DISEASE 1
0.700
GeneticVariation
UNIPROT
Novel mutations in the duplicated region of the polycystic kidney disease 1 (PKD1) gene provides supporting evidence for gene conversion.
11216660
2000
rs886038369
PKD1;MIR3180-5
POLYCYSTIC KIDNEY DISEASE 1
0.700
GeneticVariation
UNIPROT
Screening the 3' region of the polycystic kidney disease 1 (PKD1) gene reveals six novel mutations.
8554072
1996
rs886038369
PKD1;MIR3180-5
POLYCYSTIC KIDNEY DISEASE 1
0.700
GeneticVariation
UNIPROT
Mutation detection in the duplicated region of the polycystic kidney disease 1 (PKD1) gene in PKD1-linked Australian families.
11857740
2002
rs886038369
PKD1;MIR3180-5
POLYCYSTIC KIDNEY DISEASE 1
0.700
GeneticVariation
UNIPROT
Three novel mutations of the PKD1 gene in Italian families with autosomal dominant polycystic kidney disease.
9259200
1997
rs886038369
PKD1;MIR3180-5
POLYCYSTIC KIDNEY DISEASE 1
0.700
GeneticVariation
UNIPROT
Mutation screening of the PKD1 transcript by RT-PCR.
12070253
2002
rs886038369
PKD1;MIR3180-5
POLYCYSTIC KIDNEY DISEASE 1
0.700
GeneticVariation
UNIPROT
Three novel mutations of the PKD1 gene in Korean patients with autosomal dominant polycystic kidney disease.
12220456
2002
rs886038369
PKD1;MIR3180-5
POLYCYSTIC KIDNEY DISEASE 1
0.700
GeneticVariation
UNIPROT
Novel mutations in the 3 region of the polycystic kidney disease 1 (PKD1) gene.
10647901
1999
rs886038369
PKD1;MIR3180-5
POLYCYSTIC KIDNEY DISEASE 1
0.700
GeneticVariation
UNIPROT
Mutations of the PKD1 gene among Japanese autosomal dominant polycystic kidney disease patients, including one heterozygous mutation identified in members of the same family.
11558899
2001
rs886038369
PKD1;MIR3180-5
POLYCYSTIC KIDNEY DISEASE 1
0.700
GeneticVariation
UNIPROT
Mutational analysis within the 3' region of the PKD1 gene.
10200984
1999
rs886038369
PKD1;MIR3180-5
POLYCYSTIC KIDNEY DISEASE 1
0.700
GeneticVariation
UNIPROT
A complete mutation screen of the ADPKD genes by DHPLC.
11967008
2002
rs886038369
PKD1;MIR3180-5
POLYCYSTIC KIDNEY DISEASE 1
0.700
GeneticVariation
UNIPROT
Novel PKD1 deletions and missense variants in a cohort of Hellenic polycystic kidney disease families.
11571556
2001
rs886038369
PKD1;MIR3180-5
POLYCYSTIC KIDNEY DISEASE 1
0.700
GeneticVariation
UNIPROT
Mutation detection of PKD1 identifies a novel mutation common to three families with aneurysms and/or very-early-onset disease.
10577909
1999
rs886038369
PKD1;MIR3180-5
POLYCYSTIC KIDNEY DISEASE 1
0.700
GeneticVariation
UNIPROT
DGGE screening of PKD1 gene reveals novel mutations in a large cohort of 146 unrelated patients.
10987650
1999
rs886038369
PKD1;MIR3180-5
POLYCYSTIC KIDNEY DISEASE 1
0.700
GeneticVariation
UNIPROT
Identification of mutations in the repeated part of the autosomal dominant polycystic kidney disease type 1 gene, PKD1, by long-range PCR.
10364515
1999
rs886038369
PKD1;MIR3180-5
POLYCYSTIC KIDNEY DISEASE 1
0.700
GeneticVariation
UNIPROT
Novel method for genomic analysis of PKD1 and PKD2 mutations in autosomal dominant polycystic kidney disease.
18837007
2009
rs79000340
PKD1;LOC105371049
POLYCYSTIC KIDNEY DISEASE 1
0.700
GeneticVariation
UNIPROT
rs781492044
PKD1;LOC105371049
POLYCYSTIC KIDNEY DISEASE 1
0.700
GeneticVariation
UNIPROT
Novel and recurrent mutations in the PKD1 (polycystic kidney disease) gene.
9521593
1998