Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2817
Gene Symbol: GPC1
GPC1
0.320 GeneticVariation disease BEFREE Common variants of GPC1 gene were genetically involved in BA risk. 27373597 2016
Entrez Id: 2817
Gene Symbol: GPC1
GPC1
0.320 SusceptibilityMutation disease ORPHANET Evidence from human and zebrafish that GPC1 is a biliary atresia susceptibility gene. 23336978 2013
Entrez Id: 2817
Gene Symbol: GPC1
GPC1
0.320 GeneticVariation disease BEFREE We observed a statistically significant increase in deletions at 2q37.3 in patients with BA that resulted in deletion of one copy of GPC1, which encodes glypican 1, a heparan sulfate proteoglycan that regulates Hedgehog signaling and inflammation. 23336978 2013
Entrez Id: 57817
Gene Symbol: HAMP
HAMP
0.320 GeneticVariation disease BEFREE The study demonstrates that C allele of rs916145 in USF2 gene has more frequency for developing BA, and decreased USF2 protein nuclear translocation might partly play a role in the decreased hepcidin expression in the cholestatic liver injury of the late stage of BA. 18970934 2008
Entrez Id: 57817
Gene Symbol: HAMP
HAMP
0.320 AlteredExpression disease BEFREE Significantly weaker liver hepcidin immunostaining and lower plasma hepcidin levels were found in late-stage BA than in the early stage. 16627878 2006
Entrez Id: 57817
Gene Symbol: HAMP
HAMP
0.320 Biomarker disease CTD_human Liver hepcidin and stainable iron expression in biliary atresia. 16627878 2006
Entrez Id: 406937
Gene Symbol: MIR145
MIR145
0.210 Biomarker disease RGD Downregulation of microRNA-145 may contribute to liver fibrosis in biliary atresia by targeting ADD3. 28902846 2017
Entrez Id: 406937
Gene Symbol: MIR145
MIR145
0.210 AlteredExpression disease BEFREE ADD3, verified as a target of miR-145-5p, was shown to be overexpressed in infants with BA at the mRNA level (p = 0.0118). 28902846 2017
Entrez Id: 64321
Gene Symbol: SOX17
SOX17
0.200 Biomarker disease MGD Embryonic cholecystitis and defective gallbladder contraction in the Sox17-haploinsufficient mouse model of biliary atresia. 28432216 2017
Entrez Id: 64321
Gene Symbol: SOX17
SOX17
0.200 Biomarker disease MGD Our results suggest that Sox17 plays a dosage-dependent function in the morphogenesis and maturation of gallbladder and bile duct epithelia during the late-organogenic stages, highlighting a novel entry point to the understanding of the etiology and pathogenesis of human congenital biliary atresia. 23293295 2013
Entrez Id: 2202
Gene Symbol: EFEMP1
EFEMP1
0.110 GeneticVariation disease GWASCAT A genome-wide association study identifies a susceptibility locus for biliary atresia on 2p16.1 within the gene EFEMP1. 30102696 2018
Entrez Id: 100505933
Gene Symbol: ADD3-AS1
ADD3-AS1
0.110 GeneticVariation disease BEFREE ADD3 and ADD3-AS1 variants increased susceptibility to BA, suggesting that these genes may play an additive role in the pathogenesis of the disease. 29508064 2018
Entrez Id: 2202
Gene Symbol: EFEMP1
EFEMP1
0.110 Biomarker disease BEFREE The identification of a novel BA-associated locus, and implication of EFEMP1 as a new BA candidate susceptibility gene, could provide new insights to understanding the mechanisms underlying this severe pediatric disorder. 30102696 2018
Entrez Id: 2627
Gene Symbol: GATA6
GATA6
0.110 AlteredExpression disease BEFREE In conclusion, GATA6 is a novel marker and a putative driver of hepatocyte-cholangiocyte metaplasia in BA, and its expression in hepatocytes is downregulated after successful PE. 29388792 2018
Entrez Id: 100505933
Gene Symbol: ADD3-AS1
ADD3-AS1
0.110 GeneticVariation disease GWASCAT Genome-wide association study identifies a susceptibility locus for biliary atresia on 10q24.2. 20460270 2010
Entrez Id: 100505933
Gene Symbol: ADD3-AS1
ADD3-AS1
0.110 GeneticVariation disease GWASDB Genome-wide association study identifies a susceptibility locus for biliary atresia on 10q24.2. 20460270 2010
Entrez Id: 2627
Gene Symbol: GATA6
GATA6
0.110 Biomarker disease HPO
Entrez Id: 285780
Gene Symbol: LY86-AS1
LY86-AS1
0.100 GeneticVariation disease GWASDB Genome-wide association study identifies a susceptibility locus for biliary atresia on 10q24.2. 20460270 2010
Entrez Id: 54715
Gene Symbol: RBFOX1
RBFOX1
0.100 GeneticVariation disease GWASDB Genome-wide association study identifies a susceptibility locus for biliary atresia on 10q24.2. 20460270 2010
Entrez Id: 106479781
Gene Symbol: RNU6-484P
RNU6-484P
0.100 GeneticVariation disease GWASDB Genome-wide association study identifies a susceptibility locus for biliary atresia on 10q24.2. 20460270 2010
Entrez Id: 3241
Gene Symbol: HPCAL1
HPCAL1
0.100 GeneticVariation disease GWASDB Genome-wide association study identifies a susceptibility locus for biliary atresia on 10q24.2. 20460270 2010
Entrez Id: 55100
Gene Symbol: WDR70
WDR70
0.100 GeneticVariation disease GWASDB Genome-wide association study identifies a susceptibility locus for biliary atresia on 10q24.2. 20460270 2010
Entrez Id: 100506272
Gene Symbol: LINC02492
LINC02492
0.100 GeneticVariation disease GWASDB Genome-wide association study identifies a susceptibility locus for biliary atresia on 10q24.2. 20460270 2010
Entrez Id: 84869
Gene Symbol: CBR4
CBR4
0.100 GeneticVariation disease GWASDB Genome-wide association study identifies a susceptibility locus for biliary atresia on 10q24.2. 20460270 2010
Entrez Id: 222546
Gene Symbol: RFX6
RFX6
0.100 Biomarker disease HPO