DisGeNET - a database of gene-disease associations

Autosomal Recessive Polycystic Kidney Disease, C0085548

Variant: rs770522674 ×

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:

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:

rs770522674

PKHD1

0.700

CausalMutation

CLINVAR

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

26695994

2015

dbSNP:

rs770522674

PKHD1

0.700

CausalMutation

CLINVAR

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

15698423

2005