Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 84324
Gene Symbol: SARNP
SARNP
0.010 Biomarker disease BEFREE Eight patients had died at the time of their entry into the Registry; 2 of pneumonia (1 P. carinii and 1 cytomegalovirus), 2 of encephalitis (1 ECHO virus and 1 cytomegalovirus), 2 of malignancy (both hepatocellular carcinoma), 1 of sclerosing cholangitis caused by Cryptosporidium, and 1 of hemolytic uremic syndrome. 14663287 2003
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
0.010 GeneticVariation disease LHGDN p16INK4a promoter mutations are frequent in primary sclerosing cholangitis (PSC) and PSC-associated cholangiocarcinoma. 12360471 2002
Entrez Id: 412
Gene Symbol: STS
STS
0.020 Biomarker disease BEFREE We aimed to describe the characteristics of children with AILD (autoimmune hepatitis, AIH, and autoimmune sclerosing cholangitis, ASC) focusing on the prevalence and type of biliary abnormalities on initial biopsy to see whether ASC was predictable on histological ground. 31069759 2019
Entrez Id: 29108
Gene Symbol: PYCARD
PYCARD
0.020 Biomarker disease BEFREE We aimed to describe the characteristics of children with AILD (autoimmune hepatitis, AIH, and autoimmune sclerosing cholangitis, ASC) focusing on the prevalence and type of biliary abnormalities on initial biopsy to see whether ASC was predictable on histological ground. 31069759 2019
Entrez Id: 29108
Gene Symbol: PYCARD
PYCARD
0.020 Biomarker disease BEFREE There is limited literature on the spectrum of pediatric autoimmune liver disease (AILD, encompassing both autoimmune hepatitis/AIH and autoimmune sclerosing cholangitis [ASC]) in Asian populations and its diagnostic scores similarly require further validation. 29901555 2018
Entrez Id: 3558
Gene Symbol: IL2
IL2
0.020 Biomarker disease BEFREE Interleukin 2 Promotes Hepatic Regulatory T Cell Responses and Protects From Biliary Fibrosis in Murine Sclerosing Cholangitis. 29698570 2018
Entrez Id: 412
Gene Symbol: STS
STS
0.020 Biomarker disease BEFREE There is limited literature on the spectrum of pediatric autoimmune liver disease (AILD, encompassing both autoimmune hepatitis/AIH and autoimmune sclerosing cholangitis [ASC]) in Asian populations and its diagnostic scores similarly require further validation. 29901555 2018
Entrez Id: 3558
Gene Symbol: IL2
IL2
0.020 Biomarker disease BEFREE Here, we explored whether treatment with IL-2/IL-2 monoclonal antibody complex (IL-2/IL-2Ab complex) could provide in vivo Treg expansion and treatment of experimental sclerosing cholangitis. 27965154 2017
Entrez Id: 3123
Gene Symbol: HLA-DRB1
HLA-DRB1
0.020 GeneticVariation disease BEFREE HLA-DRB1 alleles of 76 children with pAILD (autoimmune hepatitis [AIH], autoimmune sclerosing cholangitis [AISC], primary sclerosing cholangitis [PSC]) and of 50 healthy blood donors as control group were analyzed retrospectively. 26567543 2016
Entrez Id: 3123
Gene Symbol: HLA-DRB1
HLA-DRB1
0.020 Biomarker disease LHGDN The association of HLA-DR13 with lower graft survival rates in hepatitis B and primary sclerosing cholangitis Caucasian patients receiving a liver transplant. 16555323 2006
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
0.040 Biomarker disease LHGDN Cystic fibrosis transmembrane conductance regulator gene polymorphisms in patients with primary sclerosing cholangitis. 18992954 2009
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
0.040 Biomarker disease LHGDN Primary sclerosing cholangitis in childhood is associated with abnormalities in cystic fibrosis-mediated chloride channel function. 17719933 2007
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
0.040 GeneticVariation disease LHGDN What is the role of cystic fibrosis transmembrane conductance regulator dysfunction in primary sclerosing cholangitis? 17719926 2007
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
0.040 Biomarker disease LHGDN Increased prevalence of CFTR mutations and variants and decreased chloride secretion in primary sclerosing cholangitis. 12783301 2003
Entrez Id: 3119
Gene Symbol: HLA-DQB1
HLA-DQB1
0.100 GeneticVariation disease GWASCAT Genetic association analysis identifies variants associated with disease progression in primary sclerosing cholangitis. 28779025 2018
Entrez Id: 30820
Gene Symbol: KCNIP1
KCNIP1
0.100 GeneticVariation disease GWASCAT Genetic association analysis identifies variants associated with disease progression in primary sclerosing cholangitis. 28779025 2018
Entrez Id: 3431
Gene Symbol: SP110
SP110
0.100 GeneticVariation disease GWASCAT Genetic association analysis identifies variants associated with disease progression in primary sclerosing cholangitis. 28779025 2018
Entrez Id: 107986041
Gene Symbol: LINC01967
LINC01967
0.100 GeneticVariation disease GWASCAT Genetic association analysis identifies variants associated with disease progression in primary sclerosing cholangitis. 28779025 2018
Entrez Id: 51164
Gene Symbol: DCTN4
DCTN4
0.100 GeneticVariation disease GWASCAT Genetic association analysis identifies variants associated with disease progression in primary sclerosing cholangitis. 28779025 2018
Entrez Id: 11262
Gene Symbol: SP140
SP140
0.100 GeneticVariation disease GWASCAT Genetic association analysis identifies variants associated with disease progression in primary sclerosing cholangitis. 28779025 2018
Entrez Id: 6311
Gene Symbol: ATXN2
ATXN2
0.100 GeneticVariation disease 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: 10666
Gene Symbol: CD226
CD226
0.100 GeneticVariation disease 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: 23235
Gene Symbol: SIK2
SIK2
0.100 GeneticVariation disease 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: 3632
Gene Symbol: INPP5A
INPP5A
0.100 GeneticVariation disease 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: 79258
Gene Symbol: MMEL1
MMEL1
0.100 GeneticVariation disease GWASCAT Genome-wide association study of primary sclerosing cholangitis identifies new risk loci and quantifies the genetic relationship with inflammatory bowel disease. 27992413 2017