×
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
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
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
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