DisGeNET - a database of gene-disease associations

Autosomal Recessive Polycystic Kidney Disease, C0085548

Variant: rs142107837 ×

Source: CLINVAR ×

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:

rs142107837

PKHD1

0.800

GeneticVariation

CLINVAR

Case Report: Whole-exome analysis of a child with polycystic kidney disease and ventriculomegaly.

25966130

2015

dbSNP:

rs142107837

PKHD1

0.800

GeneticVariation

CLINVAR

Intragenic motifs regulate the transcriptional complexity of Pkhd1/PKHD1.

24984783

2014

dbSNP:

rs142107837

PKHD1

0.800

GeneticVariation

CLINVAR

Algorithm for efficient PKHD1 mutation screening in autosomal recessive polycystic kidney disease (ARPKD).

15706593

2005

dbSNP:

rs142107837

PKHD1

0.800

GeneticVariation

CLINVAR

Clinical consequences of PKHD1 mutations in 164 patients with autosomal-recessive polycystic kidney disease (ARPKD).

15698423

2005

dbSNP:

rs142107837

PKHD1

0.800

GeneticVariation

CLINVAR

Comprehensive genomic analysis of PKHD1 mutations in ARPKD cohorts.

15805161

2005

dbSNP:

rs142107837

PKHD1

0.800

GeneticVariation

CLINVAR

Molecular genetics of autosomal recessive polycystic kidney disease.

14741187

2004

dbSNP:

rs142107837

PKHD1

0.800

GeneticVariation

CLINVAR

Milder presentation of recessive polycystic kidney disease requires presence of amino acid substitution mutations.

12874454

2003

dbSNP:

rs142107837

PKHD1

0.800

GeneticVariation

CLINVAR

Spectrum of mutations in the gene for autosomal recessive polycystic kidney disease (ARPKD/PKHD1).

12506140

2003