Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4316
Gene Symbol: MMP7
MMP7
0.060 AlteredExpression disease BEFREE The median serum MMP-7 levels were 38.89 ng/mL (interquartile range: 22.96-56.46) for the BA group and 4.4 ng/mL (interquartile range: 2.73-6.56) for the non-BA group (<i>P</i> < .001). 31604829 2019
Entrez Id: 182
Gene Symbol: JAG1
JAG1
0.060 AlteredExpression disease BEFREE GATA6 expression in BA livers correlates with expression of known regulators of cholangiocyte differentiation ( JAGGED1, HNF1β, and HNF6). 29388792 2018
Entrez Id: 182
Gene Symbol: JAG1
JAG1
0.060 GeneticVariation disease BEFREE They carried 29 BA-private CNVs, including 3 CNVs underpinning the carriers' immunity comorbidity and one JAG1 micro-deletion. 28416017 2017
Entrez Id: 120
Gene Symbol: ADD3
ADD3
0.060 AlteredExpression disease BEFREE Moreover, in bioinformatics and in vivo genotype-expression investigations, the BA-associated potentially regulatory SNPs correlated with ADD3 gene expression (n=36; p=0.0030). 23872602 2013
Entrez Id: 182
Gene Symbol: JAG1
JAG1
0.060 GeneticVariation disease BEFREE We analysed 30 subjects with Alagille syndrome, nine with incomplete Alagille syndrome and 17 with biliary atresia and detected pathogenic mutations in JAG1 or NOTCH2 in 24/30 subjects with Alagille syndrome and in 4/9 subjects with incomplete Alagille syndrome. 28695677 2017
Entrez Id: 92086
Gene Symbol: GGTLC1
GGTLC1
0.050 Biomarker disease BEFREE Parameters showing a significant difference between BA (n = 166) and non-BA (n = 316) patients were analyzed by logistic regression to predict the occurrence of BA, and then a nomogram scoring system was designed and validated in another cohort that included 190 cases of NC.A prediction diagnostic criterion with parameters including direct bilirubin, total bilirubin, globulin, albumin, gamma glutamyl transpeptidase, cholesterol, total bile acid, hepatobiliary scintigraphy, birth weight, and stool color was established; the sensitivity and specificity of this diagnostic criterion was 89% and 84%, respectively. 30732123 2019
Entrez Id: 102724197
Gene Symbol: LOC102724197
LOC102724197
0.050 Biomarker disease BEFREE Parameters showing a significant difference between BA (n = 166) and non-BA (n = 316) patients were analyzed by logistic regression to predict the occurrence of BA, and then a nomogram scoring system was designed and validated in another cohort that included 190 cases of NC.A prediction diagnostic criterion with parameters including direct bilirubin, total bilirubin, globulin, albumin, gamma glutamyl transpeptidase, cholesterol, total bile acid, hepatobiliary scintigraphy, birth weight, and stool color was established; the sensitivity and specificity of this diagnostic criterion was 89% and 84%, respectively. 30732123 2019
Entrez Id: 102724197
Gene Symbol: LOC102724197
LOC102724197
0.050 Biomarker disease BEFREE The patient decided to terminate the pregnancy and fetal blood sample was obtained at feticide.GGTP was 573 IU/L.Fetal necropsy confirmed BA. 28402981 2017
Entrez Id: 92086
Gene Symbol: GGTLC1
GGTLC1
0.050 GeneticVariation disease BEFREE Markers for high index of clinical suspicion for BA are: a "usually" well thriving infant with conjugated hyperbilirubinemia, raised gamma glutamyl transpeptidase, persistently "acholic" stools, firm hepatomegaly with dysmorphic, hypoplastic gall bladder. 28687948 2017
Entrez Id: 92086
Gene Symbol: GGTLC1
GGTLC1
0.050 Biomarker disease BEFREE Fiver predictors, including gender, weight, direct bilirubin (DB), alkaline phosphatase (ALP), and gamma-glutamyl transpeptidase (GGT) were significantly different between the BA and non-BA groups (P < .05), from which DT, RF, and nomogram models were developed. 30077722 2018
Entrez Id: 92086
Gene Symbol: GGTLC1
GGTLC1
0.050 Biomarker disease BEFREE The patient decided to terminate the pregnancy and fetal blood sample was obtained at feticide.GGTP was 573 IU/L.Fetal necropsy confirmed BA. 28402981 2017
Entrez Id: 102724197
Gene Symbol: LOC102724197
LOC102724197
0.050 Biomarker disease BEFREE Using a CART predictive model of BA versus Non-BA (significant factors: gamma-glutamyl transpeptidase, acholic stools, weight), the receiver operating characteristic area under the curve (ROC AUC) was 0.83. 28493866 2017
Entrez Id: 102724197
Gene Symbol: LOC102724197
LOC102724197
0.050 GeneticVariation disease BEFREE Markers for high index of clinical suspicion for BA are: a "usually" well thriving infant with conjugated hyperbilirubinemia, raised gamma glutamyl transpeptidase, persistently "acholic" stools, firm hepatomegaly with dysmorphic, hypoplastic gall bladder. 28687948 2017
Entrez Id: 102724197
Gene Symbol: LOC102724197
LOC102724197
0.050 Biomarker disease BEFREE Fiver predictors, including gender, weight, direct bilirubin (DB), alkaline phosphatase (ALP), and gamma-glutamyl transpeptidase (GGT) were significantly different between the BA and non-BA groups (P < .05), from which DT, RF, and nomogram models were developed. 30077722 2018
Entrez Id: 92086
Gene Symbol: GGTLC1
GGTLC1
0.050 Biomarker disease BEFREE Using a CART predictive model of BA versus Non-BA (significant factors: gamma-glutamyl transpeptidase, acholic stools, weight), the receiver operating characteristic area under the curve (ROC AUC) was 0.83. 28493866 2017
Entrez Id: 7422
Gene Symbol: VEGFA
VEGFA
0.040 Biomarker disease BEFREE Paradoxically, VEGFR2, the main target of VEGFA-induced angiogenesis, was underexpressed in BA, and VEGFA was decreased in most BA patients. 26510548 2015
Entrez Id: 8842
Gene Symbol: PROM1
PROM1
0.040 AlteredExpression disease BEFREE Intriguingly, CD133 expression was strongly related with the survival of BA patients (p = 0.0061), but not with age at Kasai procedure (p = 0.36) and the presence of cirrhosis (p = 0.77). 31549181 2020
Entrez Id: 90865
Gene Symbol: IL33
IL33
0.040 Biomarker disease BEFREE Since immune dysregulation is a contributor to BA pathogenesis, we aimed to investigate the role of IL-33/ST2 receptor in the progression of liver fibrosis in BA patients. 31632941 2019
Entrez Id: 7422
Gene Symbol: VEGFA
VEGFA
0.040 GeneticVariation disease BEFREE These results suggest that VEGFA gene polymorphism (rs3025039) may not be associated with the risk of BA in the Southern Chinese Han population. 29251369 2018
Entrez Id: 90865
Gene Symbol: IL33
IL33
0.040 Biomarker disease BEFREE Here, we determined that the Th2-activating cytokine IL-33 is elevated in biliary atresia patient serum and in the livers and bile ducts of mice with experimental biliary atresia. 24892809 2014
Entrez Id: 7422
Gene Symbol: VEGFA
VEGFA
0.040 GeneticVariation disease BEFREE Association of common genetic variants in VEGFA with biliary atresia susceptibility in Northwestern Han Chinese. 28710035 2017
Entrez Id: 90865
Gene Symbol: IL33
IL33
0.040 AlteredExpression disease BEFREE Furthermore, the elevated serum levels of IL-33 in BA infants were correlated with gamma-glutamyl transferase (GGT) levels. 23178147 2013
Entrez Id: 8842
Gene Symbol: PROM1
PROM1
0.040 GeneticVariation disease BEFREE Liver samples collected from BA infants at Kasai portoenterostomy and age-matched controls, as well as from wild-type and Prom1 knockout mice with 3,5-diethoxycarbonyl-1,4-dihydrocollidine (DDC)-induced experimental cholestasis were analyzed histologically using immunofluorescence and by quantitative polymerase chain reaction. 28688656 2017
Entrez Id: 90865
Gene Symbol: IL33
IL33
0.040 Biomarker disease BEFREE Serum IL-33 at a cut-off value of 20.8 pg/ml can detect biliary atresia with a specificity of 95% and a sensitivity of 96.7%. 31764415 2020
Entrez Id: 7422
Gene Symbol: VEGFA
VEGFA
0.040 GeneticVariation disease BEFREE The VEGF +936 C/T polymorphism and particularly the C allele are associated with BA, possibly conferring increased susceptibility to the disease. 19713864 2010