Biliary Atresia Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description A cholestasis characterized by blockage of the ducts that carry bile from the liver to the gallbladder. (Human Disease Ontology, DOID_13608)
External Link https://www.disgenet.org/browser/0/1/0/C0005411
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Genes

165 genes associated with the disease Biliary Atresia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
ABCB11 ATP-binding cassette, sub-family B (MDR/TAP), member 11
ADD3 adducin 3 (gamma)
ADIPOQ adiponectin, C1Q and collagen domain containing
ALB albumin
ANGPT1 angiopoietin 1
ANGPT2 angiopoietin 2
ANXA2 annexin A2
ARF6 ADP-ribosylation factor 6
ARID3B AT rich interactive domain 3B (BRIGHT-like)
BBS1 Bardet-Biedl syndrome 1
CASP1 caspase 1, apoptosis-related cysteine peptidase
CBR4 carbonyl reductase 4
CCL2 chemokine (C-C motif) ligand 2
CCL20 chemokine (C-C motif) ligand 20
CCN2 cellular communication network factor 2
CD14 CD14 molecule
CD163 CD163 molecule
CD274 CD274 molecule
CD68 CD68 molecule
CDKN1B cyclin-dependent kinase inhibitor 1B (p27, Kip1)
CFC1 cripto, FRL-1, cryptic family 1
CHP1 calcineurin-like EF-hand protein 1
CREB1 cAMP responsive element binding protein 1
CTNNB1 catenin (cadherin-associated protein), beta 1, 88kDa
CX3CL1 chemokine (C-X3-C motif) ligand 1
CX3CR1 chemokine (C-X3-C motif) receptor 1
CXCL10 chemokine (C-X-C motif) ligand 10
CXCL8 chemokine (C-X-C motif) ligand 8
CXCR2 chemokine (C-X-C motif) receptor 2
CYBB cytochrome b-245, beta polypeptide
CYP7A1 cytochrome P450, family 7, subfamily A, polypeptide 1
DCTN6 dynactin 6
DNMT1 DNA (cytosine-5-)-methyltransferase 1
DNMT3A DNA (cytosine-5-)-methyltransferase 3 alpha
DNMT3B DNA (cytosine-5-)-methyltransferase 3 beta
EFEMP1 EGF containing fibulin-like extracellular matrix protein 1
EGF epidermal growth factor
EGFR epidermal growth factor receptor
ENPP2 ectonucleotide pyrophosphatase/phosphodiesterase 2
EPAS1 endothelial PAS domain protein 1
EPCAM epithelial cell adhesion molecule
EPHB2 EPH receptor B2
ERCC4 excision repair cross-complementation group 4
F2 coagulation factor II (thrombin)
FCGR3A Fc fragment of IgG, low affinity IIIa, receptor (CD16a)
FCGR3B Fc fragment of IgG, low affinity IIIb, receptor (CD16b)
FGF19 fibroblast growth factor 19
FGF21 fibroblast growth factor 21
FGFR4 fibroblast growth factor receptor 4
FOXA2 forkhead box A2
FOXA3 forkhead box A3
FOXP3 forkhead box P3
GATA6 GATA binding protein 6
GGT1 gamma-glutamyltransferase 1
GGTLC1 gamma-glutamyltransferase light chain 1
GGTLC3 gamma-glutamyltransferase light chain 3
GHR growth hormone receptor
GLI2 GLI family zinc finger 2
GPC1 glypican 1
GPT glutamic-pyruvate transaminase (alanine aminotransferase)
GSTA1 glutathione S-transferase alpha 1
HAMP hepcidin antimicrobial peptide
HES1 hes family bHLH transcription factor 1
HGF hepatocyte growth factor (hepapoietin A; scatter factor)
HGFAC HGF activator
HIF1A hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)
HLA-A major histocompatibility complex, class I, A
HMGB1 high mobility group box 1
HNF1B HNF1 homeobox B
HPCAL1 hippocalcin-like 1
HSP90AA1 heat shock protein 90kDa alpha (cytosolic), class A member 1
HSPA4 heat shock 70kDa protein 4
ICAM1 intercellular adhesion molecule 1
IFI27 interferon, alpha-inducible protein 27
IFNG interferon, gamma
IGF1 insulin-like growth factor 1 (somatomedin C)
IGFBP1 insulin-like growth factor binding protein 1
IGFBP3 insulin-like growth factor binding protein 3
IL10 interleukin 10
IL13 interleukin 13
IL18 interleukin 18
IL32 interleukin 32
IL33 interleukin 33
IL4 interleukin 4
IL6 interleukin 6
INVS inversin
IRF5 interferon regulatory factor 5
IRF7 interferon regulatory factor 7
ITGAL integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)
ITGB2 integrin, beta 2 (complement component 3 receptor 3 and 4 subunit)
ITGB5 integrin, beta 5
ITGB8 integrin, beta 8
IVNS1ABP influenza virus NS1A binding protein
JAG1 jagged 1
KRT19 keratin 19, type I
KRT7 keratin 7, type II
LAMC2 laminin, gamma 2
LGALS3BP lectin, galactoside-binding, soluble, 3 binding protein
LMLN leishmanolysin-like (metallopeptidase M8 family)
LOC102724197 inactive gamma-glutamyltranspeptidase 2-like
LOXL2 lysyl oxidase-like 2
MAPK1 mitogen-activated protein kinase 1
MAPK3 mitogen-activated protein kinase 3
MBD1 methyl-CpG binding domain protein 1
MBD4 methyl-CpG binding domain protein 4
MIF macrophage migration inhibitory factor (glycosylation-inhibiting factor)
MMP2 matrix metallopeptidase 2
MMP7 matrix metallopeptidase 7
MTG1 mitochondrial ribosome-associated GTPase 1
MX1 MX dynamin-like GTPase 1
NCAM1 neural cell adhesion molecule 1
NOC2L nucleolar complex associated 2 homolog (S. cerevisiae)
NODAL nodal growth differentiation factor
NOTCH2 notch 2
NR0B2 nuclear receptor subfamily 0, group B, member 2
ONECUT1 one cut homeobox 1
PCK1 phosphoenolpyruvate carboxykinase 1 (soluble)
PDCD1LG2 programmed cell death 1 ligand 2
PDGFA platelet-derived growth factor alpha polypeptide
PPM1K protein phosphatase, Mg2+/Mn2+ dependent, 1K
PROM1 prominin 1
PSMD9 proteasome (prosome, macropain) 26S subunit, non-ATPase, 9
PTPN11 protein tyrosine phosphatase, non-receptor type 11
RBFOX1 RNA binding protein, fox-1 homolog (C. elegans) 1
RDX radixin
RFX6 regulatory factor X, 6
RHOV ras homolog family member V
RRAS related RAS viral (r-ras) oncogene homolog
SELE selectin E
SHH sonic hedgehog
SLC26A6 solute carrier family 26 (anion exchanger), member 6
SMAD3 SMAD family member 3
SMG1 SMG1 phosphatidylinositol 3-kinase-related kinase
SOX17 SRY (sex determining region Y)-box 17
SOX9 SRY (sex determining region Y)-box 9
SPINT1 serine peptidase inhibitor, Kunitz type 1
SPP1 secreted phosphoprotein 1
SPRY2 sprouty homolog 2 (Drosophila)
SRL sarcalumenin
SSSCA1 Sjogren syndrome/scleroderma autoantigen 1
STAT1 signal transducer and activator of transcription 1, 91kDa
STAT3 signal transducer and activator of transcription 3 (acute-phase response factor)
STAT6 signal transducer and activator of transcription 6, interleukin-4 induced
STX3 syntaxin 3
TEK TEK tyrosine kinase, endothelial
TGFB1 transforming growth factor, beta 1
TGFB2 transforming growth factor, beta 2
TICAM2 toll-like receptor adaptor molecule 2
TIMP1 TIMP metallopeptidase inhibitor 1
TLR2 toll-like receptor 2
TLR3 toll-like receptor 3
TLR7 toll-like receptor 7
TLR8 toll-like receptor 8
TMED7 transmembrane emp24 protein transport domain containing 7
TMED7-TICAM2 TMED7-TICAM2 readthrough
TNF tumor necrosis factor
TNFRSF12A tumor necrosis factor receptor superfamily, member 12A
TNFSF10 tumor necrosis factor (ligand) superfamily, member 10
USF2 upstream transcription factor 2, c-fos interacting
VEGFA vascular endothelial growth factor A
VIM vimentin
WDR70 WD repeat domain 70
XPNPEP1 X-prolyl aminopeptidase (aminopeptidase P) 1, soluble
ZDHHC24 zinc finger, DHHC-type containing 24
ZIC3 Zic family member 3