DisGeNET - a database of gene-disease associations

Autosomal Recessive Polycystic Kidney Disease, C0085548

Variant: rs1210846081 ×

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:

rs1210846081

PKHD1

0.800

GeneticVariation

CLINVAR

Clinical and molecular characterization defines a broadened spectrum of autosomal recessive polycystic kidney disease (ARPKD).

16523049

2006

dbSNP:

rs1210846081

PKHD1

0.800

GeneticVariation

CLINVAR

G8: a novel domain associated with polycystic kidney disease and non-syndromic hearing loss.

16632497

2006

dbSNP:

rs1210846081

PKHD1

0.800

GeneticVariation

CLINVAR

Comprehensive genomic analysis of PKHD1 mutations in ARPKD cohorts.

15805161

2005

dbSNP:

rs1210846081

PKHD1

0.800

GeneticVariation

CLINVAR

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

12874454

2003

dbSNP:

rs1210846081

PKHD1

0.800

GeneticVariation

CLINVAR

A complete mutation screen of PKHD1 in autosomal-recessive polycystic kidney disease (ARPKD) pedigrees.

12846734

2003

dbSNP:

rs1210846081

PKHD1

0.800

CausalMutation

CLINVAR