Primary Sclerosing Cholangitis Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
External Link https://www.disgenet.org/browser/0/1/0/C0566602
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Genes

250 genes associated with the disease Primary Sclerosing Cholangitis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
ABCA4 ATP-binding cassette, sub-family A (ABC1), member 4
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
ABCD1 ATP-binding cassette, sub-family D (ALD), member 1
ACAD8 acyl-CoA dehydrogenase family, member 8
ADGRB3 adhesion G protein-coupled receptor B3
AFP alpha-fetoprotein
AGA aspartylglucosaminidase
AGBL2 ATP/GTP binding protein-like 2
AHSA1 AHA1, activator of heat shock 90kDa protein ATPase homolog 1 (yeast)
AICDA activation-induced cytidine deaminase
AIMP2 aminoacyl tRNA synthetase complex-interacting multifunctional protein 2
AIRE autoimmune regulator
AKT1 v-akt murine thymoma viral oncogene homolog 1
ALB albumin
ANXA2 annexin A2
AOC3 amine oxidase, copper containing 3
AREG amphiregulin
ARID1A AT rich interactive domain 1A (SWI-like)
ARSA arylsulfatase A
ATXN2 ataxin 2
B3GAT1 beta-1,3-glucuronyltransferase 1
BCL2 B-cell CLL/lymphoma 2
BCL2L1 BCL2-like 1
BCL2L11 BCL2-like 11 (apoptosis facilitator)
BCL3 B-cell CLL/lymphoma 3
BSN bassoon presynaptic cytomatrix protein
BTG3 BTG family, member 3
C21ORF33 chromosome 21 open reading frame 33
C3 complement component 3
CASP3 caspase 3, apoptosis-related cysteine peptidase
CCBE1 collagen and calcium binding EGF domains 1
CCL20 chemokine (C-C motif) ligand 20
CCL21 chemokine (C-C motif) ligand 21
CCL25 chemokine (C-C motif) ligand 25
CCR2 chemokine (C-C motif) receptor 2
CCR5 chemokine (C-C motif) receptor 5 (gene/pseudogene)
CCR9 chemokine (C-C motif) receptor 9
CD14 CD14 molecule
CD226 CD226 molecule
CD274 CD274 molecule
CD28 CD28 molecule
CD40LG CD40 ligand
CD47 CD47 molecule
CD68 CD68 molecule
CDKN2A cyclin-dependent kinase inhibitor 2A
CEACAM3 carcinoembryonic antigen-related cell adhesion molecule 3
CEACAM5 carcinoembryonic antigen-related cell adhesion molecule 5
CEACAM7 carcinoembryonic antigen-related cell adhesion molecule 7
CFB complement factor B
CFLAR CASP8 and FADD-like apoptosis regulator
CFTR cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)
CHRM3 cholinergic receptor, muscarinic 3
COX2
CRK v-crk avian sarcoma virus CT10 oncogene homolog
CTHRC1 collagen triple helix repeat containing 1
CTLA4 cytotoxic T-lymphocyte-associated protein 4
CTNNB1 catenin (cadherin-associated protein), beta 1, 88kDa
CUZD1 CUB and zona pellucida-like domains 1
CX3CR1 chemokine (C-X3-C motif) receptor 1
CXCL8 chemokine (C-X-C motif) ligand 8
DCT dopachrome tautomerase
DDC dopa decarboxylase (aromatic L-amino acid decarboxylase)
DDR2 discoidin domain receptor tyrosine kinase 2
DEFB1 defensin, beta 1
DEFB104A defensin, beta 104A
DEFB104B defensin, beta 104B
DEFB4A defensin, beta 4A
DEFB4B defensin, beta 4B
DLAT dihydrolipoamide S-acetyltransferase
DLG5 discs, large homolog 5 (Drosophila)
DNASE1 deoxyribonuclease I
EGFR epidermal growth factor receptor
ELK1 ELK1, member of ETS oncogene family
ENTPD1 ectonucleoside triphosphate diphosphohydrolase 1
ERBB2 erb-b2 receptor tyrosine kinase 2
ETS1 v-ets avian erythroblastosis virus E26 oncogene homolog 1
F3 coagulation factor III (thromboplastin, tissue factor)
FBL fibrillarin
FBN2 fibrillin 2
FGF19 fibroblast growth factor 19
FOXO1 forkhead box O1
FOXO3 forkhead box O3
FOXP3 forkhead box P3
FUT2 fucosyltransferase 2 (secretor status included)
FUT3 fucosyltransferase 3 (galactoside 3(4)-L-fucosyltransferase, Lewis blood group)
GABPA GA binding protein transcription factor, alpha subunit 60kDa
GCLC glutamate-cysteine ligase, catalytic subunit
GCLM glutamate-cysteine ligase, modifier subunit
GGTLC1 gamma-glutamyltransferase light chain 1
GP2 glycoprotein 2 (zymogen granule membrane)
GPBAR1 G protein-coupled bile acid receptor 1
GPR35 G protein-coupled receptor 35
GPT glutamic-pyruvate transaminase (alanine aminotransferase)
GRAP2 GRB2-related adaptor protein 2
GSTT1 glutathione S-transferase theta 1
HAMP hepcidin antimicrobial peptide
HCLS1 hematopoietic cell-specific Lyn substrate 1
HDAC7 histone deacetylase 7
HES1 hes family bHLH transcription factor 1
HIF1A hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)
HLA-A major histocompatibility complex, class I, A
HLA-B major histocompatibility complex, class I, B
HLA-C major histocompatibility complex, class I, C
HLA-DOA major histocompatibility complex, class II, DO alpha
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-DRB1 major histocompatibility complex, class II, DR beta 1
HLA-DRB3 major histocompatibility complex, class II, DR beta 3
HLA-DRB5 major histocompatibility complex, class II, DR beta 5
HP haptoglobin
HSPB3 heat shock 27kDa protein 3
ICAM1 intercellular adhesion molecule 1
ICOS inducible T-cell co-stimulator
IFNG interferon, gamma
IL10 interleukin 10
IL12A interleukin 12A
IL13 interleukin 13
IL15 interleukin 15
IL17A interleukin 17A
IL1A interleukin 1, alpha
IL1B interleukin 1, beta
IL1RN interleukin 1 receptor antagonist
IL2 interleukin 2
IL21 interleukin 21
IL22 interleukin 22
IL23A interleukin 23, alpha subunit p19
IL2RA interleukin 2 receptor, alpha
IL6 interleukin 6
INSRR insulin receptor-related receptor
ISG20 interferon stimulated exonuclease gene 20kDa
JAG1 jagged 1
JAM3 junctional adhesion molecule 3
KCNH4 potassium channel, voltage gated eag related subfamily H, member 4
KCNH8 potassium channel, voltage gated eag related subfamily H, member 8
KIAA1109 KIAA1109
KIF12 kinesin family member 12
KLRC4-KLRK1 KLRC4-KLRK1 readthrough
KLRK1 killer cell lectin-like receptor subfamily K, member 1
KMT2A lysine (K)-specific methyltransferase 2A
KMT2B lysine (K)-specific methyltransferase 2B
KRT20 keratin 20, type I
LGALS3BP lectin, galactoside-binding, soluble, 3 binding protein
LOC102724023 ES1 protein homolog, mitochondrial
LOC102724197 inactive gamma-glutamyltranspeptidase 2-like
LOXL2 lysyl oxidase-like 2
LSS lanosterol synthase (2,3-oxidosqualene-lanosterol cyclase)
MADCAM1 mucosal vascular addressin cell adhesion molecule 1
MAPK1 mitogen-activated protein kinase 1
MAPK14 mitogen-activated protein kinase 14
MAPK3 mitogen-activated protein kinase 3
MCL1 myeloid cell leukemia 1
MEFV Mediterranean fever
MEN1 multiple endocrine neoplasia I
MET MET proto-oncogene, receptor tyrosine kinase
MGLL monoglyceride lipase
MICA MHC class I polypeptide-related sequence A
MICB MHC class I polypeptide-related sequence B
MME membrane metallo-endopeptidase
MMEL1 membrane metallo-endopeptidase-like 1
MMP1 matrix metallopeptidase 1
MMP14 matrix metallopeptidase 14 (membrane-inserted)
MMP2 matrix metallopeptidase 2
MMP3 matrix metallopeptidase 3
MMP9 matrix metallopeptidase 9
MPO myeloperoxidase
MS4A1 membrane-spanning 4-domains, subfamily A, member 1
MST1 macrophage stimulating 1
NANOS2 nanos homolog 2 (Drosophila)
NCAM1 neural cell adhesion molecule 1
NEIL1 nei endonuclease VIII-like 1 (E. coli)
NEUROG3 neurogenin 3
NFE2L2 nuclear factor, erythroid 2-like 2
NLRP3 NLR family, pyrin domain containing 3
NOD1 nucleotide-binding oligomerization domain containing 1
NOD2 nucleotide-binding oligomerization domain containing 2
NOL3 nucleolar protein 3 (apoptosis repressor with CARD domain)
NOS2 nitric oxide synthase 2, inducible
NOTCH1 notch 1
NOTCH3 notch 3
NR1H4 nuclear receptor subfamily 1, group H, member 4
NR1I2 nuclear receptor subfamily 1, group I, member 2
NR3C1 nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)
NRAS neuroblastoma RAS viral (v-ras) oncogene homolog
ORM2 orosomucoid 2
PAEP progestagen-associated endometrial protein
PDZD2 PDZ domain containing 2
PDZK1 PDZ domain containing 1
PHLDB1 pleckstrin homology-like domain, family B, member 1
PIK3CD phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta
PNPLA3 patatin-like phospholipase domain containing 3
POLDIP2 polymerase (DNA-directed), delta interacting protein 2
POLR2G polymerase (RNA) II (DNA directed) polypeptide G
PPARA peroxisome proliferator-activated receptor alpha
PRKD2 protein kinase D2
PSG2 pregnancy specific beta-1-glycoprotein 2
PTGES prostaglandin E synthase
PTGS2 prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)
PTK2B protein tyrosine kinase 2 beta
PUS10 pseudouridylate synthase 10
PYCARD PYD and CARD domain containing
RBM45 RNA binding motif protein 45
RETN resistin
RIC8B RIC8 guanine nucleotide exchange factor B
RLN2 relaxin 2
RMI2 RecQ mediated genome instability 2
RNF19A ring finger protein 19A, RBR E3 ubiquitin protein ligase
RSPO3 R-spondin 3
S100A12 S100 calcium binding protein A12
S100A8 S100 calcium binding protein A8
SARNP SAP domain containing ribonucleoprotein
SDC1 syndecan 1
SH2B3 SH2B adaptor protein 3
SIK2 salt-inducible kinase 2
SLC10A2 solute carrier family 10 (sodium/bile acid cotransporter), member 2
SLC17A5 solute carrier family 17 (acidic sugar transporter), member 5
SLC26A3 solute carrier family 26 (anion exchanger), member 3
SLC9A3R1 solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 regulator 1
SOCS1 suppressor of cytokine signaling 1
SOD2 superoxide dismutase 2, mitochondrial
SPP1 secreted phosphoprotein 1
SPTBN1 spectrin, beta, non-erythrocytic 1
SRY sex determining region Y
STAT4 signal transducer and activator of transcription 4
STS steroid sulfatase (microsomal), isozyme S
SULT2A1 sulfotransferase family, cytosolic, 2A, dehydroepiandrosterone (DHEA)-preferring, member 1
TBC1D9 TBC1 domain family, member 9 (with GRAM domain)
TCF4 transcription factor 4
TFF3 trefoil factor 3 (intestinal)
TLR4 toll-like receptor 4
TLR9 toll-like receptor 9
TM6SF2 transmembrane 6 superfamily member 2
TNF tumor necrosis factor
TNFRSF25 tumor necrosis factor receptor superfamily, member 25
TNFSF10 tumor necrosis factor (ligand) superfamily, member 10
TP53 tumor protein p53
TXN thioredoxin
TXN2 thioredoxin 2
TXNIP thioredoxin interacting protein
TXNRD1 thioredoxin reductase 1
UBASH3A ubiquitin associated and SH3 domain containing A
UBE2Z ubiquitin-conjugating enzyme E2Z
USE1 unconventional SNARE in the ER 1 homolog (S. cerevisiae)
VDR vitamin D (1,25- dihydroxyvitamin D3) receptor
VIM vimentin
WDR11 WD repeat domain 11
WWC1 WW and C2 domain containing 1
XPR1 xenotropic and polytropic retrovirus receptor 1