DisGeNET - a database of gene-disease associations

PKHD1, PKHD1 ciliary IPT domain containing fibrocystin/polyductin, 5314

N. diseases: 115; N. variants: 324

Disease: Autosomal Recessive Polycystic Kidney Disease ×

Variant: rs148617572 ×

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

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs148617572

Entrez Id:	5314;105375087
Gene Symbol:	PKHD1;LOC105375087

PKHD1;LOC105375087

CUI:	C0085548
Disease:

Autosomal Recessive Polycystic Kidney Disease

0.800

CausalMutation

CLINVAR

An Ashkenazi founder mutation in the PKHD1 gene.

26721323

2016

dbSNP:

rs148617572

Entrez Id:	5314;105375087
Gene Symbol:	PKHD1;LOC105375087

PKHD1;LOC105375087

CUI:	C0085548
Disease:

Autosomal Recessive Polycystic Kidney Disease

0.800

CausalMutation

CLINVAR

Compound heterozygous PKHD1 variants cause a wide spectrum of ductal plate malformations.

26385851

2015

dbSNP:

rs148617572

Entrez Id:	5314;105375087
Gene Symbol:	PKHD1;LOC105375087

PKHD1;LOC105375087

CUI:	C0085548
Disease:

Autosomal Recessive Polycystic Kidney Disease

0.800

GeneticVariation

CLINVAR

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

19940839

2010

dbSNP:

rs148617572

Entrez Id:	5314;105375087
Gene Symbol:	PKHD1;LOC105375087

PKHD1;LOC105375087

CUI:	C0085548
Disease:

Autosomal Recessive Polycystic Kidney Disease

0.800

CausalMutation

CLINVAR

Comprehensive genomic analysis of PKHD1 mutations in ARPKD cohorts.

15805161

2005

dbSNP:

rs148617572

Entrez Id:	5314;105375087
Gene Symbol:	PKHD1;LOC105375087

PKHD1;LOC105375087

CUI:	C0085548
Disease:

Autosomal Recessive Polycystic Kidney Disease

0.800

GeneticVariation

CLINVAR

Comprehensive genomic analysis of PKHD1 mutations in ARPKD cohorts.

15805161

2005

dbSNP:

rs148617572

Entrez Id:	5314;105375087
Gene Symbol:	PKHD1;LOC105375087

PKHD1;LOC105375087

CUI:	C0085548
Disease:

Autosomal Recessive Polycystic Kidney Disease

0.800

GeneticVariation

CLINVAR

PKHD1 mutations in families requesting prenatal diagnosis for autosomal recessive polycystic kidney disease (ARPKD).

15108281

2004

dbSNP:

rs148617572

Entrez Id:	5314;105375087
Gene Symbol:	PKHD1;LOC105375087

PKHD1;LOC105375087

CUI:	C0085548
Disease:

Autosomal Recessive Polycystic Kidney Disease

0.800

CausalMutation

CLINVAR

PKHD1 mutations in families requesting prenatal diagnosis for autosomal recessive polycystic kidney disease (ARPKD).

15108281

2004

dbSNP:

rs148617572

Entrez Id:	5314;105375087
Gene Symbol:	PKHD1;LOC105375087

PKHD1;LOC105375087

CUI:	C0085548
Disease:

Autosomal Recessive Polycystic Kidney Disease

0.800

GeneticVariation

CLINVAR

Spectrum of mutations in the gene for autosomal recessive polycystic kidney disease (ARPKD/PKHD1).

12506140

2003

dbSNP:

rs148617572

Entrez Id:	5314;105375087
Gene Symbol:	PKHD1;LOC105375087

PKHD1;LOC105375087

CUI:	C0085548
Disease:

Autosomal Recessive Polycystic Kidney Disease

0.800

CausalMutation

CLINVAR

Spectrum of mutations in the gene for autosomal recessive polycystic kidney disease (ARPKD/PKHD1).

12506140

2003

dbSNP:

rs148617572

Entrez Id:	5314;105375087
Gene Symbol:	PKHD1;LOC105375087

PKHD1;LOC105375087

CUI:	C0085548
Disease:

Autosomal Recessive Polycystic Kidney Disease

0.800

GeneticVariation

UNIPROT