DisGeNET - a database of gene-disease associations

Autosomal Recessive Polycystic Kidney Disease, C0085548

Variant: rs780182068 ×

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:

rs780182068

PKHD1 ; LOC105375087

0.700

CausalMutation

CLINVAR

Cost-effective PKHD1 genetic testing for autosomal recessive polycystic kidney disease.

24162162

2014

dbSNP:

rs780182068

PKHD1 ; LOC105375087

0.700

CausalMutation

CLINVAR

Analysis of missense variants in the PKHD1-gene in patients with autosomal recessive polycystic kidney disease (ARPKD).

16133180

2005

dbSNP:

rs780182068

PKHD1 ; LOC105375087

0.700

CausalMutation

CLINVAR

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

15698423

2005

dbSNP:

rs780182068

PKHD1 ; LOC105375087

0.700

CausalMutation

CLINVAR

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

12874454

2003