DisGeNET - a database of gene-disease associations

Autosomal Recessive Polycystic Kidney Disease, C0085548

Variant: rs398124502 ×

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:

rs398124502

PKHD1

0.700

CausalMutation

CLINVAR

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

24162162

2014

dbSNP:

rs398124502

PKHD1

0.700

CausalMutation

CLINVAR

Genotype-phenotype correlations in fetuses and neonates with autosomal recessive polycystic kidney disease.

19940839

2010

dbSNP:

rs398124502

PKHD1

0.700

CausalMutation

CLINVAR

Comprehensive genomic analysis of PKHD1 mutations in ARPKD cohorts.

15805161

2005

dbSNP:

rs398124502

PKHD1

0.700

CausalMutation

CLINVAR

Haplotype analysis improves molecular diagnostics of autosomal recessive polycystic kidney disease.

15696446

2005

dbSNP:

rs398124502

PKHD1

0.700

CausalMutation

CLINVAR

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

12846734

2003