Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 53347
Gene Symbol: UBASH3A
UBASH3A
CUI: C0008313
Disease: Cholangitis, Sclerosing
Cholangitis, Sclerosing
0.400 Biomarker CTD_human Genome-wide association study of primary sclerosing cholangitis identifies new risk loci and quantifies the genetic relationship with inflammatory bowel disease. 27992413

2017

Entrez Id: 4485
Gene Symbol: MST1
MST1
CUI: C0008313
Disease: Cholangitis, Sclerosing
Cholangitis, Sclerosing
0.400 GeneticVariation GWASCAT Genome-wide association study of primary sclerosing cholangitis identifies new risk loci and quantifies the genetic relationship with inflammatory bowel disease. 27992413

2017

Entrez Id: 53347
Gene Symbol: UBASH3A
UBASH3A
CUI: C0008313
Disease: Cholangitis, Sclerosing
Cholangitis, Sclerosing
0.400 GeneticVariation GWASCAT Genome-wide association study of primary sclerosing cholangitis identifies new risk loci and quantifies the genetic relationship with inflammatory bowel disease. 27992413

2017

Entrez Id: 53347
Gene Symbol: UBASH3A
UBASH3A
CUI: C0008313
Disease: Cholangitis, Sclerosing
Cholangitis, Sclerosing
0.400 GeneticVariation GWASCAT Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci. 26974007

2016

Entrez Id: 4843
Gene Symbol: NOS2
NOS2
CUI: C0008313
Disease: Cholangitis, Sclerosing
Cholangitis, Sclerosing
0.400 GeneticVariation GWASCAT Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci. 26974007

2016

Entrez Id: 4485
Gene Symbol: MST1
MST1
CUI: C0008313
Disease: Cholangitis, Sclerosing
Cholangitis, Sclerosing
0.400 GeneticVariation GWASCAT Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci. 26974007

2016

Entrez Id: 4485
Gene Symbol: MST1
MST1
CUI: C0008313
Disease: Cholangitis, Sclerosing
Cholangitis, Sclerosing
0.400 GeneticVariation GWASCAT Dense genotyping of immune-related disease regions identifies nine new risk loci for primary sclerosing cholangitis. 23603763

2013

Entrez Id: 4485
Gene Symbol: MST1
MST1
CUI: C0008313
Disease: Cholangitis, Sclerosing
Cholangitis, Sclerosing
0.400 Biomarker CTD_human Genome-wide association analysis in primary sclerosing cholangitis identifies two non-HLA susceptibility loci. 21151127

2011

Entrez Id: 4485
Gene Symbol: MST1
MST1
CUI: C0008313
Disease: Cholangitis, Sclerosing
Cholangitis, Sclerosing
0.400 GeneticVariation GWASCAT Genome-wide association analysis in primary sclerosing cholangitis identifies two non-HLA susceptibility loci. 21151127

2011

Entrez Id: 4843
Gene Symbol: NOS2
NOS2
CUI: C0008313
Disease: Cholangitis, Sclerosing
Cholangitis, Sclerosing
0.400 Biomarker CTD_human Cytokine-stimulated nitric oxide production inhibits adenylyl cyclase and cAMP-dependent secretion in cholangiocytes. 12612912

2003

Entrez Id: 5244
Gene Symbol: ABCB4
ABCB4
CUI: C0008313
Disease: Cholangitis, Sclerosing
Cholangitis, Sclerosing
0.320 GeneticVariation BEFREE To generalize these observations, we suppressed β-catenin in Mdr2 knockout (KO) mice, which develop sclerosing cholangitis due to regurgitation of BA from leaky ducts. 31489648

2019

Entrez Id: 5244
Gene Symbol: ABCB4
ABCB4
CUI: C0008313
Disease: Cholangitis, Sclerosing
Cholangitis, Sclerosing
0.320 Biomarker CTD_human Galunisertib modifies the liver fibrotic composition in the Abcb4Ko mouse model. 29808285

2018

Entrez Id: 5244
Gene Symbol: ABCB4
ABCB4
CUI: C0008313
Disease: Cholangitis, Sclerosing
Cholangitis, Sclerosing
0.320 Biomarker BEFREE Because MDR2 (rodent orthologue of human MDR3) knockout mice develop sclerosing cholangitis, it is attractive to speculate that MDR3 defects could also play an important role in cholangiopathies in humans. 17295178

2007

Entrez Id: 5244
Gene Symbol: ABCB4
ABCB4
CUI: C0008313
Disease: Cholangitis, Sclerosing
Cholangitis, Sclerosing
0.320 Biomarker CTD_human Multidrug resistance gene 2 knockout mice (Mdr2(-/-)) represent a well-characterized model for sclerosing cholangitis. 16472600

2006

Entrez Id: 3091
Gene Symbol: HIF1A
HIF1A
CUI: C0008313
Disease: Cholangitis, Sclerosing
Cholangitis, Sclerosing
0.300 Biomarker CTD_human Consistent with a role for HIFs in liver fibrosis in cholestatic liver disease, nuclear HIF-1α protein was present in macrophages, hepatocytes, and fibroblasts in the livers from patients with primary biliary cirrhosis and primary sclerosing cholangitis. 22271822

2012

Entrez Id: 10018
Gene Symbol: BCL2L11
BCL2L11
CUI: C0008313
Disease: Cholangitis, Sclerosing
Cholangitis, Sclerosing
0.300 Biomarker CTD_human Genome-wide association analysis in primary sclerosing cholangitis identifies two non-HLA susceptibility loci. 21151127

2011

Entrez Id: 8209
Gene Symbol: GATD3A
GATD3A
CUI: C0008313
Disease: Cholangitis, Sclerosing
Cholangitis, Sclerosing
0.110 GeneticVariation GWASCAT Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci. 26974007

2016

Entrez Id: 8209
Gene Symbol: GATD3A
GATD3A
CUI: C0008313
Disease: Cholangitis, Sclerosing
Cholangitis, Sclerosing
0.110 Biomarker BEFREE PDX-1/Hes-1 interactions determine cholangiocyte proliferative response to injury in rodents: possible implications for sclerosing cholangitis. 23207146

2013

Entrez Id: 3119
Gene Symbol: HLA-DQB1
HLA-DQB1
CUI: C0008313
Disease: Cholangitis, Sclerosing
Cholangitis, Sclerosing
0.100 GeneticVariation GWASCAT Genetic association analysis identifies variants associated with disease progression in primary sclerosing cholangitis. 28779025

2018

Entrez Id: 30820
Gene Symbol: KCNIP1
KCNIP1
CUI: C0008313
Disease: Cholangitis, Sclerosing
Cholangitis, Sclerosing
0.100 GeneticVariation GWASCAT Genetic association analysis identifies variants associated with disease progression in primary sclerosing cholangitis. 28779025

2018

Entrez Id: 3431
Gene Symbol: SP110
SP110
CUI: C0008313
Disease: Cholangitis, Sclerosing
Cholangitis, Sclerosing
0.100 GeneticVariation GWASCAT Genetic association analysis identifies variants associated with disease progression in primary sclerosing cholangitis. 28779025

2018

Entrez Id: 107986041
Gene Symbol: LINC01967
LINC01967
CUI: C0008313
Disease: Cholangitis, Sclerosing
Cholangitis, Sclerosing
0.100 GeneticVariation GWASCAT Genetic association analysis identifies variants associated with disease progression in primary sclerosing cholangitis. 28779025

2018

Entrez Id: 51164
Gene Symbol: DCTN4
DCTN4
CUI: C0008313
Disease: Cholangitis, Sclerosing
Cholangitis, Sclerosing
0.100 GeneticVariation GWASCAT Genetic association analysis identifies variants associated with disease progression in primary sclerosing cholangitis. 28779025

2018

Entrez Id: 11262
Gene Symbol: SP140
SP140
CUI: C0008313
Disease: Cholangitis, Sclerosing
Cholangitis, Sclerosing
0.100 GeneticVariation GWASCAT Genetic association analysis identifies variants associated with disease progression in primary sclerosing cholangitis. 28779025

2018

Entrez Id: 6311
Gene Symbol: ATXN2
ATXN2
CUI: C0008313
Disease: Cholangitis, Sclerosing
Cholangitis, Sclerosing
0.100 GeneticVariation GWASCAT Genome-wide association study of primary sclerosing cholangitis identifies new risk loci and quantifies the genetic relationship with inflammatory bowel disease. 27992413

2017