DisGeNET - a database of gene-disease associations

Autosomal Recessive Polycystic Kidney Disease, C0085548

Variant: rs267601070 ×

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:

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:

rs267601070

PKHD1

0.700

GeneticVariation

CLINVAR

Pseudoexon activation in the PKHD1 gene: a French founder intronic mutation IVS46+653A>G causing severe autosomal recessive polycystic kidney disease.

19021639

2009

dbSNP:

rs267601070

PKHD1

0.700

CausalMutation

CLINVAR