Primary Biliary Cirrhosis Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description A liver cirrhosis characterized by chronic and slow progressive destruction of intrahepatic bile ducts. (Human Disease Ontology, DOID_12236)
External Link https://www.disgenet.org/browser/0/1/0/C0008312
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Genes

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

Symbol Name
ABCA1 ATP-binding cassette, sub-family A (ABC1), member 1
ABCB1 ATP-binding cassette, sub-family B (MDR/TAP), member 1
ABCB11 ATP-binding cassette, sub-family B (MDR/TAP), member 11
ABCB4 ATP-binding cassette, sub-family B (MDR/TAP), member 4
ABCC1 ATP-binding cassette, sub-family C (CFTR/MRP), member 1
ABCC2 ATP-binding cassette, sub-family C (CFTR/MRP), member 2
ABCC3 ATP-binding cassette, sub-family C (CFTR/MRP), member 3
ABCC4 ATP-binding cassette, sub-family C (CFTR/MRP), member 4
ABCC6 ATP-binding cassette, sub-family C (CFTR/MRP), member 6
ABCG2 ATP-binding cassette, sub-family G (WHITE), member 2 (Junior blood group)
ABO ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase)
ACE angiotensin I converting enzyme
ACE2 angiotensin I converting enzyme 2
ACTB actin, beta
AGBL2 ATP/GTP binding protein-like 2
AGO2 argonaute RISC catalytic component 2
AGT angiotensinogen (serpin peptidase inhibitor, clade A, member 8)
AIRE autoimmune regulator
ALB albumin
ALPP alkaline phosphatase, placental
ANXA11 annexin A11
ANXA2 annexin A2
APEX1 APEX nuclease (multifunctional DNA repair enzyme) 1
APOE apolipoprotein E
AQP4 aquaporin 4
AREG amphiregulin
ARHGAP31 Rho GTPase activating protein 31
ARID3A AT rich interactive domain 3A (BRIGHT-like)
ASRGL1 asparaginase like 1
ATM ATM serine/threonine kinase
ATN1 atrophin 1
ATRNL1 attractin-like 1
ATXN2 ataxin 2
B3GAT1 beta-1,3-glucuronyltransferase 1
BCL2 B-cell CLL/lymphoma 2
BCL3 B-cell CLL/lymphoma 3
BCR breakpoint cluster region
BHMT betaine--homocysteine S-methyltransferase
BRCA1 breast cancer 1, early onset
BTG3 BTG family, member 3
C4A complement component 4A (Rodgers blood group)
C4B complement component 4B (Chido blood group)
C4B_2 complement component 4B (Chido blood group), copy 2
C6ORF10 chromosome 6 open reading frame 10
CALCOCO2 calcium binding and coiled-coil domain 2
CCDC88B coiled-coil domain containing 88B
CCL11 chemokine (C-C motif) ligand 11
CCL20 chemokine (C-C motif) ligand 20
CCL24 chemokine (C-C motif) ligand 24
CCL26 chemokine (C-C motif) ligand 26
CCL27 chemokine (C-C motif) ligand 27
CCL5 chemokine (C-C motif) ligand 5
CCN2 cellular communication network factor 2
CCR5 chemokine (C-C motif) receptor 5 (gene/pseudogene)
CCR7 chemokine (C-C motif) receptor 7
CD14 CD14 molecule
CD180 CD180 molecule
CD19 CD19 molecule
CD1C CD1c molecule
CD1D CD1d molecule
CD207 CD207 molecule, langerin
CD274 CD274 molecule
CD28 CD28 molecule
CD3D CD3d molecule, delta (CD3-TCR complex)
CD40 CD40 molecule, TNF receptor superfamily member 5
CD40LG CD40 ligand
CD58 CD58 molecule
CD74 CD74 molecule, major histocompatibility complex, class II invariant chain
CD79A CD79a molecule, immunoglobulin-associated alpha
CD80 CD80 molecule
CD86 CD86 molecule
CD99 CD99 molecule
CDH5 cadherin 5, type 2 (vascular endothelium)
CDK12 cyclin-dependent kinase 12
CDK2AP1 cyclin-dependent kinase 2 associated protein 1
CDKN1A cyclin-dependent kinase inhibitor 1A (p21, Cip1)
CDKN1B cyclin-dependent kinase inhibitor 1B (p27, Kip1)
CDKN2A cyclin-dependent kinase inhibitor 2A
CFTR cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)
CHRM3 cholinergic receptor, muscarinic 3
CHUK conserved helix-loop-helix ubiquitous kinase
CIB1 calcium and integrin binding 1 (calmyrin)
CLDN14 claudin 14
CLEC16A C-type lectin domain family 16, member A
CNGB1 cyclic nucleotide gated channel beta 1
CNTN5 contactin 5
COG6 component of oligomeric golgi complex 6
COL17A1 collagen, type XVII, alpha 1
COL1A1 collagen, type I, alpha 1
COL9A3 collagen, type IX, alpha 3
CPEB1 cytoplasmic polyadenylation element binding protein 1
CTHRC1 collagen triple helix repeat containing 1
CTLA4 cytotoxic T-lymphocyte-associated protein 4
CTSZ cathepsin Z
CX3CR1 chemokine (C-X3-C motif) receptor 1
CXCL10 chemokine (C-X-C motif) ligand 10
CXCL12 chemokine (C-X-C motif) ligand 12
CXCL8 chemokine (C-X-C motif) ligand 8
CXCL9 chemokine (C-X-C motif) ligand 9
CXCR3 chemokine (C-X-C motif) receptor 3
CXCR5 chemokine (C-X-C motif) receptor 5
CYGB cytoglobin
CYP21A2 cytochrome P450, family 21, subfamily A, polypeptide 2
CYP2D6 cytochrome P450, family 2, subfamily D, polypeptide 6
CYP3A4 cytochrome P450, family 3, subfamily A, polypeptide 4
CYP7A1 cytochrome P450, family 7, subfamily A, polypeptide 1
DAG1 dystroglycan 1 (dystrophin-associated glycoprotein 1)
DBT dihydrolipoamide branched chain transacylase E2
DCTN4 dynactin 4 (p62)
DCTN6 dynactin 6
DDR1 discoidin domain receptor tyrosine kinase 1
DDR2 discoidin domain receptor tyrosine kinase 2
DDX6 DEAD (Asp-Glu-Ala-Asp) box helicase 6
DEFB1 defensin, beta 1
DEFB4A defensin, beta 4A
DEFB4B defensin, beta 4B
DENND1B DENN/MADD domain containing 1B
DGCR2 DiGeorge syndrome critical region gene 2
DGKQ diacylglycerol kinase, theta 110kDa
DLAT dihydrolipoamide S-acetyltransferase
DLST dihydrolipoamide S-succinyltransferase (E2 component of 2-oxo-glutarate complex)
DMBT1 deleted in malignant brain tumors 1
DNASE1 deoxyribonuclease I
DNMT1 DNA (cytosine-5-)-methyltransferase 1
DPP8 dipeptidyl-peptidase 8
DPP9 dipeptidyl-peptidase 9
EBAG9 estrogen receptor binding site associated, antigen, 9
EBI3 Epstein-Barr virus induced 3
EIF4E eukaryotic translation initiation factor 4E
ELMO1 engulfment and cell motility 1
ENTPD2 ectonucleoside triphosphate diphosphohydrolase 2
ESR1 estrogen receptor 1
ESR2 estrogen receptor 2 (ER beta)
EXOC3L4 exocyst complex component 3-like 4
FAS Fas cell surface death receptor
FASLG Fas ligand (TNF superfamily, member 6)
FBL fibrillarin
FBXL20 F-box and leucine-rich repeat protein 20
FCRL3 Fc receptor-like 3
FGF19 fibroblast growth factor 19
FH fumarate hydratase
FOSL1 FOS-like antigen 1
FOXO1 forkhead box O1
FOXO3 forkhead box O3
FOXP3 forkhead box P3
GABPA GA binding protein transcription factor, alpha subunit 60kDa
GATM glycine amidinotransferase (L-arginine:glycine amidinotransferase)
GGT1 gamma-glutamyltransferase 1
GGTLC1 gamma-glutamyltransferase light chain 1
GGTLC3 gamma-glutamyltransferase light chain 3
GLB1 galactosidase, beta 1
GLI3 GLI family zinc finger 3
GNLY granulysin
GPBAR1 G protein-coupled bile acid receptor 1
GPT glutamic-pyruvate transaminase (alanine aminotransferase)
GRIK1 glutamate receptor, ionotropic, kainate 1
GSDMB gasdermin B
GSTM1 glutathione S-transferase mu 1
GSTM2 glutathione S-transferase mu 2 (muscle)
GTF2H1 general transcription factor IIH, polypeptide 1, 62kDa
GZMB granzyme B (granzyme 2, cytotoxic T-lymphocyte-associated serine esterase 1)
HAMP hepcidin antimicrobial peptide
HAP1 huntingtin-associated protein 1
HDAC9 histone deacetylase 9
HGF hepatocyte growth factor (hepapoietin A; scatter factor)
HHIP hedgehog interacting protein
HIF1A hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)
HK1 hexokinase 1
HLA-A major histocompatibility complex, class I, A
HLA-B major histocompatibility complex, class I, B
HLA-DOA major histocompatibility complex, class II, DO alpha
HLA-DPA1 major histocompatibility complex, class II, DP alpha 1
HLA-DPB1 major histocompatibility complex, class II, DP beta 1
HLA-DQA1 major histocompatibility complex, class II, DQ alpha 1
HLA-DQB1 major histocompatibility complex, class II, DQ beta 1
HLA-DRA major histocompatibility complex, class II, DR alpha
HLA-DRB1 major histocompatibility complex, class II, DR beta 1
HLA-DRB3 major histocompatibility complex, class II, DR beta 3
HMGB1 high mobility group box 1
HMOX1 heme oxygenase 1
HNF4A hepatocyte nuclear factor 4, alpha
HPGDS hematopoietic prostaglandin D synthase
HSPD1 heat shock 60kDa protein 1 (chaperonin)
ICAM1 intercellular adhesion molecule 1
ICAM3 intercellular adhesion molecule 3
ICOS inducible T-cell co-stimulator
ICOSLG inducible T-cell co-stimulator ligand
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
IKZF3 IKAROS family zinc finger 3 (Aiolos)
IL10 interleukin 10
IL12A interleukin 12A
IL12B interleukin 12B
IL12RB1 interleukin 12 receptor, beta 1
IL12RB2 interleukin 12 receptor, beta 2
IL13 interleukin 13
IL16 interleukin 16
IL17A interleukin 17A
IL18 interleukin 18
IL18R1 interleukin 18 receptor 1
IL1A interleukin 1, alpha
IL1B interleukin 1, beta
IL1RN interleukin 1 receptor antagonist
IL2 interleukin 2
IL21 interleukin 21
IL21R interleukin 21 receptor
IL23A interleukin 23, alpha subunit p19
IL2RA interleukin 2 receptor, alpha
IL37 interleukin 37
IL4 interleukin 4
IL5 interleukin 5
IL6 interleukin 6
IL7 interleukin 7
IL7R interleukin 7 receptor
INTU inturned planar cell polarity protein
IRF5 interferon regulatory factor 5
ISG20 interferon stimulated exonuclease gene 20kDa
ITGA1 integrin, alpha 1
ITGA5 integrin, alpha 5 (fibronectin receptor, alpha polypeptide)
ITGAL integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)
ITGAV integrin, alpha V
ITGB2 integrin, beta 2 (complement component 3 receptor 3 and 4 subunit)
ITIH4 inter-alpha-trypsin inhibitor heavy chain family, member 4
ITLN1 intelectin 1 (galactofuranose binding)
JAK2 Janus kinase 2
JAM3 junctional adhesion molecule 3
JPH3 junctophilin 3
KANSL1 KAT8 regulatory NSL complex subunit 1
KEAP1 kelch-like ECH-associated protein 1
KHDRBS1 KH domain containing, RNA binding, signal transduction associated 1
KLF4 Kruppel-like factor 4 (gut)
KLHL1 kelch-like family member 1
KLHL12 kelch-like family member 12
KLRG1 killer cell lectin-like receptor subfamily G, member 1
KMT2B lysine (K)-specific methyltransferase 2B
KMT2D lysine (K)-specific methyltransferase 2D
KRT18 keratin 18, type I
KRT20 keratin 20, type I
KRT7 keratin 7, type II
L1CAM L1 cell adhesion molecule
LAMP1 lysosomal-associated membrane protein 1
LEP leptin
LGALS3 lectin, galactoside-binding, soluble, 3
LGALS3BP lectin, galactoside-binding, soluble, 3 binding protein
LOC102723407 putative V-set and immunoglobulin domain-containing-like protein IGHV4OR15-8
LOC102724197 inactive gamma-glutamyltranspeptidase 2-like
LOC102724971 putative V-set and immunoglobulin domain-containing-like protein IGHV4OR15-8
LOR loricrin
LOX lysyl oxidase
LOXL2 lysyl oxidase-like 2
LPA lipoprotein, Lp(a)
LRG1 leucine-rich alpha-2-glycoprotein 1
LRP1 low density lipoprotein receptor-related protein 1
LRRC32 leucine rich repeat containing 32
LTA lymphotoxin alpha
LTBR lymphotoxin beta receptor (TNFR superfamily, member 3)
MANBA mannosidase, beta A, lysosomal
MAP3K14 mitogen-activated protein kinase kinase kinase 14
MAPK14 mitogen-activated protein kinase 14
MAPT microtubule-associated protein tau
MARCKSL1 MARCKS-like 1
MAS1 MAS1 proto-oncogene, G protein-coupled receptor
MBL2 mannose-binding lectin (protein C) 2, soluble
MED1 mediator complex subunit 1
MGC57346-CRHR1 MGC57346-CRHR1 readthrough
MIF macrophage migration inhibitory factor (glycosylation-inhibiting factor)
MMEL1 membrane metallo-endopeptidase-like 1
MMP13 matrix metallopeptidase 13
MMP2 matrix metallopeptidase 2
MMP3 matrix metallopeptidase 3
MMP9 matrix metallopeptidase 9
MS4A1 membrane-spanning 4-domains, subfamily A, member 1
MYD88 myeloid differentiation primary response 88
NAB1 NGFI-A binding protein 1 (EGR1 binding protein 1)
NAT10 N-acetyltransferase 10 (GCN5-related)
NBPF3 neuroblastoma breakpoint family, member 3
NELFCD negative elongation factor complex member C/D
NFE2L2 nuclear factor, erythroid 2-like 2
NFKB1 nuclear factor of kappa light polypeptide gene enhancer in B-cells 1
NFYA nuclear transcription factor Y, alpha
NOS2 nitric oxide synthase 2, inducible
NOS3 nitric oxide synthase 3 (endothelial cell)
NOTCH1 notch 1
NQO1 NAD(P)H dehydrogenase, quinone 1
NR0B2 nuclear receptor subfamily 0, group B, member 2
NR1H4 nuclear receptor subfamily 1, group H, member 4
NR1I2 nuclear receptor subfamily 1, group I, member 2
NR1I3 nuclear receptor subfamily 1, group I, member 3
NR3C1 nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)
NRAS neuroblastoma RAS viral (v-ras) oncogene homolog
NSA2 NSA2 ribosome biogenesis homolog (S. cerevisiae)
NSF N-ethylmaleimide-sensitive factor
NTN1 netrin 1
NUP210 nucleoporin 210kDa
NUP62 nucleoporin 62kDa
OGDH oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)
OPRM1 opioid receptor, mu 1
ORMDL3 ORMDL sphingolipid biosynthesis regulator 3
PAX3 paired box 3
PDC phosducin
PDCD1 programmed cell death 1
PDCD1LG2 programmed cell death 1 ligand 2
PDE5A phosphodiesterase 5A, cGMP-specific
PDGFB platelet-derived growth factor beta polypeptide
PDHX pyruvate dehydrogenase complex, component X
PDK4 pyruvate dehydrogenase kinase, isozyme 4
PDLIM3 PDZ and LIM domain 3
PDP1 pyruvate dehyrogenase phosphatase catalytic subunit 1
PDZD2 PDZ domain containing 2
PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
PLCB1 phospholipase C, beta 1 (phosphoinositide-specific)
PLCL2 phospholipase C-like 2
PML promyelocytic leukemia
PNPLA3 patatin-like phospholipase domain containing 3
POGLUT1 protein O-glucosyltransferase 1
POLR2G polymerase (RNA) II (DNA directed) polypeptide G
POU2AF1 POU class 2 associating factor 1
POU2F1 POU class 2 homeobox 1
PPARA peroxisome proliferator-activated receptor alpha
PPARG peroxisome proliferator-activated receptor gamma
PPARGC1A peroxisome proliferator-activated receptor gamma, coactivator 1 alpha
PPP1R2P9 protein phosphatase 1, regulatory (inhibitor) subunit 2 pseudogene 9
PRAM1 PML-RARA regulated adaptor molecule 1
PRDM16 PR domain containing 16
PRF1 perforin 1 (pore forming protein)
PRICKLE1 prickle homolog 1 (Drosophila)
PRKCB protein kinase C, beta
PRPF40A PRP40 pre-mRNA processing factor 40 homolog A (S. cerevisiae)
PRRC2A proline-rich coiled-coil 2A
PSMA4 proteasome (prosome, macropain) subunit, alpha type, 4
PSMD3 proteasome (prosome, macropain) 26S subunit, non-ATPase, 3
PSMD9 proteasome (prosome, macropain) 26S subunit, non-ATPase, 9
PSMG4 proteasome (prosome, macropain) assembly chaperone 4
PTGS2 prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)
PTPN22 protein tyrosine phosphatase, non-receptor type 22 (lymphoid)
RAD51B RAD51 paralog B
RBFOX1 RNA binding protein, fox-1 homolog (C. elegans) 1
RBM45 RNA binding motif protein 45
RDX radixin
RELA v-rel avian reticuloendotheliosis viral oncogene homolog A
REN renin
RIPK3 receptor-interacting serine-threonine kinase 3
RMI2 RecQ mediated genome instability 2
RNASET2 ribonuclease T2
RPL3 ribosomal protein L3
RPS6KA4 ribosomal protein S6 kinase, 90kDa, polypeptide 4
RPS6KB1 ribosomal protein S6 kinase, 70kDa, polypeptide 1
S100A12 S100 calcium binding protein A12
SCHIP1 schwannomin interacting protein 1
SCTR secretin receptor
SDK1 sidekick cell adhesion molecule 1
SERPINA1 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1
SERPINB3 serpin peptidase inhibitor, clade B (ovalbumin), member 3
SH2B3 SH2B adaptor protein 3
SIAE sialic acid acetylesterase
SKIV2L superkiller viralicidic activity 2-like (S. cerevisiae)
SLC10A1 solute carrier family 10 (sodium/bile acid cotransporter), member 1
SLC10A2 solute carrier family 10 (sodium/bile acid cotransporter), member 2
SLC12A9 solute carrier family 12, member 9
SLC17A8 solute carrier family 17 (vesicular glutamate transporter), member 8
SLC22A1 solute carrier family 22 (organic cation transporter), member 1
SLC22A23 solute carrier family 22, member 23
SLC25A1 solute carrier family 25 (mitochondrial carrier; citrate transporter), member 1
SLC44A1 solute carrier family 44 (choline transporter), member 1
SLC4A2 solute carrier family 4 (anion exchanger), member 2
SLC51A solute carrier family 51, alpha subunit
SLC51B solute carrier family 51, beta subunit
SLCO1B1 solute carrier organic anion transporter family, member 1B1
SLCO1B3 solute carrier organic anion transporter family, member 1B3
SLCO1C1 solute carrier organic anion transporter family, member 1C1
SLIT2 slit homolog 2 (Drosophila)
SLPI secretory leukocyte peptidase inhibitor
SMAD2 SMAD family member 2
SMAD3 SMAD family member 3
SOAT1 sterol O-acyltransferase 1
SOCS1 suppressor of cytokine signaling 1
SOST sclerostin
SP100 SP100 nuclear antigen
SP140L SP140 nuclear body protein-like
SPATA31A3 SPATA31 subfamily A, member 3
SPIB Spi-B transcription factor (Spi-1/PU.1 related)
SPINT1 serine peptidase inhibitor, Kunitz type 1
SPP1 secreted phosphoprotein 1
SPPL2C signal peptide peptidase like 2C
SQSTM1 sequestosome 1
SRY sex determining region Y
SS18L1 synovial sarcoma translocation gene on chromosome 18-like 1
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)
STAT4 signal transducer and activator of transcription 4
STAT5A signal transducer and activator of transcription 5A
STAT5B signal transducer and activator of transcription 5B
STH saitohin
SULT2A1 sulfotransferase family, cytosolic, 2A, dehydroepiandrosterone (DHEA)-preferring, member 1
SYCE1L synaptonemal complex central element protein 1-like
SYNGR1 synaptogyrin 1
TBC1D9 TBC1 domain family, member 9 (with GRAM domain)
TBX21 T-box 21
TFF3 trefoil factor 3 (intestinal)
TGFB1 transforming growth factor, beta 1
TGFBR2 transforming growth factor, beta receptor II (70/80kDa)
TGM2 transglutaminase 2
TICAM2 toll-like receptor adaptor molecule 2
TIMMDC1 translocase of inner mitochondrial membrane domain containing 1
TIPE2 TNF alpha induced protein 8 like 2
TLR2 toll-like receptor 2
TLR3 toll-like receptor 3
TLR4 toll-like receptor 4
TLR9 toll-like receptor 9
TMED7 transmembrane emp24 protein transport domain containing 7
TMED7-TICAM2 TMED7-TICAM2 readthrough
TMEM39A transmembrane protein 39A
TNF tumor necrosis factor
TNFRSF11A tumor necrosis factor receptor superfamily, member 11a, NFKB activator
TNFRSF11B tumor necrosis factor receptor superfamily, member 11b
TNFRSF1A tumor necrosis factor receptor superfamily, member 1A
TNFSF10 tumor necrosis factor (ligand) superfamily, member 10
TNFSF11 tumor necrosis factor (ligand) superfamily, member 11
TNFSF13B tumor necrosis factor (ligand) superfamily, member 13b
TNFSF15 tumor necrosis factor (ligand) superfamily, member 15
TNFSF4 tumor necrosis factor (ligand) superfamily, member 4
TNFSF8 tumor necrosis factor (ligand) superfamily, member 8
TNFSF9 tumor necrosis factor (ligand) superfamily, member 9
TNPO3 transportin 3
TP53 tumor protein p53
TP63 tumor protein p63
TPMT thiopurine S-methyltransferase
TRIM21 tripartite motif containing 21
TYK2 tyrosine kinase 2
UBD ubiquitin D
UGT2B4 UDP glucuronosyltransferase 2 family, polypeptide B4
VCAM1 vascular cell adhesion molecule 1
VDR vitamin D (1,25- dihydroxyvitamin D3) receptor
VEGFA vascular endothelial growth factor A
VTCN1 V-set domain containing T cell activation inhibitor 1
WASF1 WAS protein family, member 1
WDR11 WD repeat domain 11
WLS wntless Wnt ligand secretion mediator
WNT2B wingless-type MMTV integration site family, member 2B
WNT3 wingless-type MMTV integration site family, member 3
XPR1 xenotropic and polytropic retrovirus receptor 1
ZPBP2 zona pellucida binding protein 2