|
rs1555444468
|
PKD1;MIR1225;LOC105371049
|
Autosomal Recessive Polycystic Kidney Disease
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Refining Genotype-Phenotype Correlation in Autosomal Dominant Polycystic Kidney Disease.
|
26453610 |
2016 |
|
rs1045675831
|
PKD1;TSC2;MIR1225;LOC105371049
|
Autosomal Recessive Polycystic Kidney Disease
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Identification of novel PKD1 and PKD2 mutations in a Chinese population with autosomal dominant polycystic kidney disease.
|
26632257 |
2015 |
|
rs766551411
|
PKD1;MIR1225;LOC105371049
|
Autosomal Recessive Polycystic Kidney Disease
|
A |
0.700 |
CausalMutation |
CLINVAR |
Diagnosis of autosomal dominant polycystic kidney disease using efficient PKD1 and PKD2 targeted next-generation sequencing.
|
25333066 |
2014 |
|
rs1282668884
|
PKD1;MIR1225;LOC105371049
|
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 |
|
rs142768096
|
PKD1;MIR1225;LOC105371049
|
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 |
|
rs1282668884
|
PKD1;MIR1225;LOC105371049
|
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 |
|
rs1282668884
|
PKD1;MIR1225;LOC105371049
|
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 |
|
rs1282668884
|
PKD1;MIR1225;LOC105371049
|
POLYCYSTIC KIDNEY DISEASE 1
|
|
0.700 |
GeneticVariation |
UNIPROT |
Mutation screening of the PKD1 transcript by RT-PCR.
|
12070253 |
2002 |
|
rs1282668884
|
PKD1;MIR1225;LOC105371049
|
POLYCYSTIC KIDNEY DISEASE 1
|
|
0.700 |
GeneticVariation |
UNIPROT |
Mutation analysis in PKD1 of Japanese autosomal dominant polycystic kidney disease patients.
|
12007219 |
2002 |
|
rs1282668884
|
PKD1;MIR1225;LOC105371049
|
POLYCYSTIC KIDNEY DISEASE 1
|
|
0.700 |
GeneticVariation |
UNIPROT |
A complete mutation screen of the ADPKD genes by DHPLC.
|
11967008 |
2002 |
|
rs1282668884
|
PKD1;MIR1225;LOC105371049
|
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 |
|
rs142768096
|
PKD1;MIR1225;LOC105371049
|
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 |
|
rs142768096
|
PKD1;MIR1225;LOC105371049
|
POLYCYSTIC KIDNEY DISEASE 1
|
|
0.700 |
GeneticVariation |
UNIPROT |
Mutation analysis in PKD1 of Japanese autosomal dominant polycystic kidney disease patients.
|
12007219 |
2002 |
|
rs142768096
|
PKD1;MIR1225;LOC105371049
|
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 |
|
rs142768096
|
PKD1;MIR1225;LOC105371049
|
POLYCYSTIC KIDNEY DISEASE 1
|
|
0.700 |
GeneticVariation |
UNIPROT |
A complete mutation screen of the ADPKD genes by DHPLC.
|
11967008 |
2002 |
|
rs142768096
|
PKD1;MIR1225;LOC105371049
|
POLYCYSTIC KIDNEY DISEASE 1
|
|
0.700 |
GeneticVariation |
UNIPROT |
Mutation screening of the PKD1 transcript by RT-PCR.
|
12070253 |
2002 |
|
rs142768096
|
PKD1;MIR1225;LOC105371049
|
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 |
|
rs1282668884
|
PKD1;MIR1225;LOC105371049
|
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 |
|
rs1282668884
|
PKD1;MIR1225;LOC105371049
|
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 |
|
rs142768096
|
PKD1;MIR1225;LOC105371049
|
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 |
|
rs142768096
|
PKD1;MIR1225;LOC105371049
|
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 |
|
rs1282668884
|
PKD1;MIR1225;LOC105371049
|
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 |
|
rs1282668884
|
PKD1;MIR1225;LOC105371049
|
POLYCYSTIC KIDNEY DISEASE 1
|
|
0.700 |
GeneticVariation |
UNIPROT |
Thirteen novel mutations of the replicated region of PKD1 in an Asian population.
|
11012875 |
2000 |
|
rs1282668884
|
PKD1;MIR1225;LOC105371049
|
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 |
|
rs142768096
|
PKD1;MIR1225;LOC105371049
|
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 |