DisGeNET - a database of gene-disease associations

Polycystic liver disease, C0158683

The Variant filter does not apply in GDA tabs

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _g

DPI _g

pLI

EI _gda

EL _gda

Score _gda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Gene

Score _gda

Association Type

Type

Original DB

Sentence supporting the association

PMID

PMID Year

Entrez Id:	11231
Gene Symbol:	SEC63

SEC63

0.700

Biomarker

disease

HPO

Entrez Id:	5589
Gene Symbol:	PRKCSH

PRKCSH

0.700

Biomarker

disease

HPO

Entrez Id:	4041
Gene Symbol:	LRP5

LRP5

0.400

Biomarker

disease

HPO

Entrez Id:	5311
Gene Symbol:	PKD2

PKD2

0.130

CausalMutation

disease

CLINVAR

Entrez Id:	5310
Gene Symbol:	PKD1

PKD1

0.130

CausalMutation

disease

CLINVAR

Entrez Id:	23193
Gene Symbol:	GANAB

GANAB

0.120

GeneticVariation

disease

CLINVAR

Entrez Id:	23193
Gene Symbol:	GANAB

GANAB

0.120

CausalMutation

disease

CLINVAR

Entrez Id:	91147
Gene Symbol:	TMEM67

TMEM67

0.100

Biomarker

disease

HPO

Entrez Id:	23322
Gene Symbol:	RPGRIP1L

RPGRIP1L

0.100

Biomarker

disease

HPO

Entrez Id:	51259
Gene Symbol:	TMEM216

TMEM216

0.100

Biomarker

disease

HPO

Entrez Id:	57545
Gene Symbol:	CC2D2A

CC2D2A

0.100

Biomarker

disease

HPO

Entrez Id:	79848
Gene Symbol:	CSPP1

CSPP1

0.100

Biomarker

disease

HPO

Entrez Id:	2200
Gene Symbol:	FBN1

FBN1

0.100

GeneticVariation

disease

CLINVAR

Entrez Id:	55165
Gene Symbol:	CEP55

CEP55

0.100

Biomarker

disease

HPO

Entrez Id:	51057
Gene Symbol:	WDPCP

WDPCP

0.100

Biomarker

disease

HPO

Entrez Id:	79867
Gene Symbol:	TCTN2

TCTN2

0.100

Biomarker

disease

HPO

Entrez Id:	80776
Gene Symbol:	B9D2

B9D2

0.100

Biomarker

disease

HPO

Entrez Id:	84314
Gene Symbol:	TMEM107

TMEM107

0.100

Biomarker

disease

HPO

Entrez Id:	79583
Gene Symbol:	TMEM231

TMEM231

0.100

Biomarker

disease

HPO

Entrez Id:	80184
Gene Symbol:	CEP290

CEP290

0.100

Biomarker

disease

HPO

Entrez Id:	57096
Gene Symbol:	RPGRIP1

RPGRIP1

0.100

Biomarker

disease

HPO

Entrez Id:	27077
Gene Symbol:	B9D1

B9D1

0.100

Biomarker

disease

HPO

Entrez Id:	54903
Gene Symbol:	MKS1

MKS1

0.100

Biomarker

disease

HPO

Entrez Id:	79796
Gene Symbol:	ALG9

ALG9

0.300

Biomarker

disease

GENOMICS_ENGLAND

ALG9 Mutation Carriers Develop Kidney and Liver Cysts.

2019

Entrez Id:	5589
Gene Symbol:	PRKCSH

PRKCSH

0.700

GeneticVariation

disease

BEFREE

Polycystic liver disease is genetically linked to protein kinase C substrate 80K-H (PRKCSH).

2004