DisGeNET - a database of gene-disease associations

Biliary cirrhosis, C0023892

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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:	7040
Gene Symbol:	TGFB1

TGFB1

0.400

Biomarker

disease

HPO

Entrez Id:	6689
Gene Symbol:	SPIB

SPIB

0.400

Biomarker

disease

HPO

Entrez Id:	79258
Gene Symbol:	MMEL1

MMEL1

0.400

Biomarker

disease

HPO

Entrez Id:	3592
Gene Symbol:	IL12A

IL12A

0.400

Biomarker

disease

HPO

Entrez Id:	3594
Gene Symbol:	IL12RB1

IL12RB1

0.300

Biomarker

disease

HPO

Entrez Id:	10891
Gene Symbol:	PPARGC1A

PPARGC1A

0.200

Biomarker

disease

RGD

Entrez Id:	1080
Gene Symbol:	CFTR

CFTR

0.100

CausalMutation

disease

CLINVAR

Entrez Id:	1080
Gene Symbol:	CFTR

CFTR

0.100

Biomarker

disease

HPO

Entrez Id:	57539
Gene Symbol:	WDR35

WDR35

0.100

Biomarker

disease

HPO

Entrez Id:	51164
Gene Symbol:	DCTN4

DCTN4

0.100

Biomarker

disease

HPO

Entrez Id:	9966
Gene Symbol:	TNFSF15

TNFSF15

0.100

Biomarker

disease

HPO

Entrez Id:	51473
Gene Symbol:	DCDC2

DCDC2

0.100

Biomarker

disease

HPO

Entrez Id:	6804
Gene Symbol:	STX1A

STX1A

0.100

Biomarker

disease

HPO

Entrez Id:	3930
Gene Symbol:	LBR

LBR

0.100

Biomarker

disease

HPO

Entrez Id:	22802
Gene Symbol:	CLCA4

CLCA4

0.100

Biomarker

disease

HPO

Entrez Id:	23534
Gene Symbol:	TNPO3

TNPO3

0.100

Biomarker

disease

HPO

Entrez Id:	5450
Gene Symbol:	POU2AF1

POU2AF1

0.100

Biomarker

disease

HPO

Entrez Id:	2212
Gene Symbol:	FCGR2A

FCGR2A

0.100

Biomarker

disease

HPO

Entrez Id:	3663
Gene Symbol:	IRF5

IRF5

0.100

Biomarker

disease

HPO

Entrez Id:	27031
Gene Symbol:	NPHP3

NPHP3

0.100

Biomarker

disease

HPO

Entrez Id:	1906
Gene Symbol:	EDN1

EDN1

0.010

Biomarker

disease

BEFREE

We conclude that plasma endothelin-1 levels are high in patients with severe biliary cirrhosis and that endothelin-1 may partially contribute to development of renal injury in cirrhosis.

7472910

1995

Entrez Id:	9020
Gene Symbol:	MAP3K14

MAP3K14

0.200

Biomarker

disease

MGD

T-cell receptor repertoire of infiltrating T cells in lachrymal glands, salivary glands and kidneys from alymphoplasia (aly) mutant mice: a new model for Sjögren's syndrome.

9010048

1996

Entrez Id:	5244
Gene Symbol:	ABCB4

ABCB4

0.330

AlteredExpression

disease

BEFREE

Using this method we determined the MDR3 mRNA levels in 52 liver specimens from primary biliary cirrhosis (n=11), chronic hepatitis B (n=5), chronic hepatitis C (n=14), non-cholestatic cirrhosis (n=9) and controls (n=13).

9126799

1997