DisGeNET - a database of gene-disease associations

Autosomal Recessive Polycystic Kidney Disease, C0085548

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs199568593

PKHD1

0.700

GeneticVariation

CLINVAR

[Genetic diagnosis of Caroli syndrome with autosomal recessive polycystic kidney disease: a case report and literature review].

29643536

2018

dbSNP:

rs199568593

PKHD1

0.700

GeneticVariation

CLINVAR

Prevalence of Rare Genetic Variations and Their Implications in NGS-data Interpretation.

28851938

2017

dbSNP:

rs747322128

PKHD1

0.700

GeneticVariation

CLINVAR

Debunking Occam's razor: Diagnosing multiple genetic diseases in families by whole-exome sequencing.

28170084

2017

dbSNP:

rs1057517158

PKHD1

0.700

GeneticVariation

CLINVAR

Expanding the mutation spectrum in 130 probands with ARPKD: identification of 62 novel PKHD1 mutations by sanger sequencing and MLPA analysis.

27225849

2016

dbSNP:

rs141103838

PKHD1

0.700

GeneticVariation

CLINVAR

Large-scale targeted sequencing comparison highlights extreme genetic heterogeneity in nephronophthisis-related ciliopathies.

26673778

2016

dbSNP:

rs1554198717

PKHD1

0.700

CausalMutation

CLINVAR

Expanding the mutation spectrum in 130 probands with ARPKD: identification of 62 novel PKHD1 mutations by sanger sequencing and MLPA analysis.

27225849

2016

dbSNP:

rs1554200780

PKHD1

0.700

CausalMutation

CLINVAR

Expanding the mutation spectrum in 130 probands with ARPKD: identification of 62 novel PKHD1 mutations by sanger sequencing and MLPA analysis.

27225849

2016

dbSNP:

rs1554271235

PKHD1

0.700

GeneticVariation

CLINVAR

Expanding the mutation spectrum in 130 probands with ARPKD: identification of 62 novel PKHD1 mutations by sanger sequencing and MLPA analysis.

27225849

2016

dbSNP:

rs1555444468

PKD1 ; MIR1225 ; LOC105371049

0.700

GeneticVariation

CLINVAR

Refining Genotype-Phenotype Correlation in Autosomal Dominant Polycystic Kidney Disease.

26453610

2016

dbSNP:

rs199568593

PKHD1

0.700

GeneticVariation

CLINVAR

Targeted exome sequencing resolves allelic and the genetic heterogeneity in the genetic diagnosis of nephronophthisis-related ciliopathy.

27491411

2016

dbSNP:

rs199839578

PKHD1 ; LOC105375087

0.700

CausalMutation

CLINVAR

[Analysis of PKHD1 gene mutation in a family affected with infantile polycystic kidney disease].

27577217

2016

dbSNP:

rs199839578

PKHD1 ; LOC105375087

0.700

CausalMutation

CLINVAR

Expanding the mutation spectrum in 130 probands with ARPKD: identification of 62 novel PKHD1 mutations by sanger sequencing and MLPA analysis.

27225849

2016

dbSNP:

rs201082169

PKHD1 ; LOC105375087

0.700

CausalMutation

CLINVAR

Large-scale targeted sequencing comparison highlights extreme genetic heterogeneity in nephronophthisis-related ciliopathies.

26673778

2016

dbSNP:

rs267601070

PKHD1

0.700

GeneticVariation

CLINVAR

Expanding the mutation spectrum in 130 probands with ARPKD: identification of 62 novel PKHD1 mutations by sanger sequencing and MLPA analysis.

27225849

2016

dbSNP:

rs376987651

PKHD1

0.700

CausalMutation

CLINVAR

Expanding the mutation spectrum in 130 probands with ARPKD: identification of 62 novel PKHD1 mutations by sanger sequencing and MLPA analysis.

27225849

2016

dbSNP:

rs398124484

PKHD1

0.700

CausalMutation

CLINVAR

An Ashkenazi founder mutation in the PKHD1 gene.

26721323

2016

dbSNP:

rs727504096

PKHD1

0.700

CausalMutation

CLINVAR

Expanding the mutation spectrum in 130 probands with ARPKD: identification of 62 novel PKHD1 mutations by sanger sequencing and MLPA analysis.

27225849

2016

dbSNP:

rs746838237

PKHD1

0.700

CausalMutation

CLINVAR

Expanding the mutation spectrum in 130 probands with ARPKD: identification of 62 novel PKHD1 mutations by sanger sequencing and MLPA analysis.

27225849

2016

dbSNP:

rs753307105

PKHD1

0.700

GeneticVariation

CLINVAR

Expanding the mutation spectrum in 130 probands with ARPKD: identification of 62 novel PKHD1 mutations by sanger sequencing and MLPA analysis.

27225849

2016

dbSNP:

rs765390756

PKHD1 ; LOC105375087

0.700

GeneticVariation

CLINVAR

Genetic analysis of the PKHD1 gene with long-rang PCR sequencing.

27752906

2016

dbSNP:

rs770461067

PKHD1 ; LOC105375087

0.700

CausalMutation

CLINVAR

Genetic analysis of the PKHD1 gene with long-rang PCR sequencing.

27752906

2016

dbSNP:

rs770522674

PKHD1

0.700

CausalMutation

CLINVAR

Expanding the mutation spectrum in 130 probands with ARPKD: identification of 62 novel PKHD1 mutations by sanger sequencing and MLPA analysis.

27225849

2016

dbSNP:

rs1045675831

PKD1 ; TSC2 ; MIR1225 ; LOC105371049

0.700

GeneticVariation

CLINVAR

Identification of novel PKD1 and PKD2 mutations in a Chinese population with autosomal dominant polycystic kidney disease.

26632257

2015

dbSNP:

rs1057516345

PKHD1 ; LOC105375087

0.700

GeneticVariation

CLINVAR

RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.

25525159

2015

dbSNP:

rs1057517158

PKHD1

0.700

GeneticVariation

CLINVAR

Molecular genetic analysis of PKHD1 by next-generation sequencing in Czech families with autosomal recessive polycystic kidney disease.

26695994

2015