Bullous Pemphigoid Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description An autoimmune disease of skin and connective tissue characterized by large blisters. (Human Disease Ontology, DOID_8506)
External Link https://www.disgenet.org/browser/0/1/0/C0030805
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Genes

123 genes associated with the disease Bullous Pemphigoid in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
ABCB1 ATP-binding cassette, sub-family B (MDR/TAP), member 1
ABCC11 ATP-binding cassette, sub-family C (CFTR/MRP), member 11
ABCC8 ATP-binding cassette, sub-family C (CFTR/MRP), member 8
ADAM10 ADAM metallopeptidase domain 10
AQP3 aquaporin 3 (Gill blood group)
BCL2 B-cell CLL/lymphoma 2
BDNF brain-derived neurotrophic factor
C3 complement component 3
C5AR2 complement component 5a receptor 2
C9ORF72 chromosome 9 open reading frame 72
CASP3 caspase 3, apoptosis-related cysteine peptidase
CCL11 chemokine (C-C motif) ligand 11
CCL17 chemokine (C-C motif) ligand 17
CCL18 chemokine (C-C motif) ligand 18 (pulmonary and activation-regulated)
CCL22 chemokine (C-C motif) ligand 22
CCL26 chemokine (C-C motif) ligand 26
CD163 CD163 molecule
CD22 CD22 molecule
CD274 CD274 molecule
CD40 CD40 molecule, TNF receptor superfamily member 5
CD46 CD46 molecule, complement regulatory protein
CD55 CD55 molecule, decay accelerating factor for complement (Cromer blood group)
COL17A1 collagen, type XVII, alpha 1
CSF2 colony stimulating factor 2 (granulocyte-macrophage)
CXCL10 chemokine (C-X-C motif) ligand 10
CXCL5 chemokine (C-X-C motif) ligand 5
CXCL8 chemokine (C-X-C motif) ligand 8
CYP2B6 cytochrome P450, family 2, subfamily B, polypeptide 6
CYP2D6 cytochrome P450, family 2, subfamily D, polypeptide 6
DOCK3 dedicator of cytokinesis 3
DPP4 dipeptidyl-peptidase 4
DPP7 dipeptidyl-peptidase 7
DPP9 dipeptidyl-peptidase 9
DSG1 desmoglein 1
DSG3 desmoglein 3
DSP desmoplakin
DSPP dentin sialophosphoprotein
DST dystonin
EPHB2 EPH receptor B2
FAS Fas cell surface death receptor
FCGR3A Fc fragment of IgG, low affinity IIIa, receptor (CD16a)
FOXP3 forkhead box P3
GLB1 galactosidase, beta 1
GLP1R glucagon-like peptide 1 receptor
GPT glutamic-pyruvate transaminase (alanine aminotransferase)
HLA-C major histocompatibility complex, class I, C
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
HSD17B6 hydroxysteroid (17-beta) dehydrogenase 6
HSP90AA1 heat shock protein 90kDa alpha (cytosolic), class A member 1
ICAM1 intercellular adhesion molecule 1
IFNA1 interferon, alpha 1
IFNA13 interferon, alpha 13
IFNG interferon, gamma
IL10 interleukin 10
IL13 interleukin 13
IL17A interleukin 17A
IL17B interleukin 17B
IL17RA interleukin 17 receptor A
IL17RB interleukin 17 receptor B
IL17RC interleukin 17 receptor C
IL1A interleukin 1, alpha
IL1B interleukin 1, beta
IL1RN interleukin 1 receptor antagonist
IL22 interleukin 22
IL23A interleukin 23, alpha subunit p19
IL24 interleukin 24
IL2RA interleukin 2 receptor, alpha
IL31 interleukin 31
IL4 interleukin 4
IL5 interleukin 5
ISG20 interferon stimulated exonuclease gene 20kDa
ITGA6 integrin, alpha 6
ITGAM integrin, alpha M (complement component 3 receptor 3 subunit)
ITGB1 integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12)
ITGB3 integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)
ITGB4 integrin, beta 4
KRT20 keratin 20, type I
LAD1 ladinin 1
MAPK1 mitogen-activated protein kinase 1
MED1 mediator complex subunit 1
MIF macrophage migration inhibitory factor (glycosylation-inhibiting factor)
MMP12 matrix metallopeptidase 12
MMP3 matrix metallopeptidase 3
MMP9 matrix metallopeptidase 9
MRC1 mannose receptor, C type 1
MS4A1 membrane-spanning 4-domains, subfamily A, member 1
MUC1 mucin 1, cell surface associated
NR3C1 nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)
PDCD1 programmed cell death 1
PEBP1 phosphatidylethanolamine binding protein 1
PKD1 polycystic kidney disease 1 (autosomal dominant)
PLEC plectin
PLG plasminogen
POSTN periostin, osteoblast specific factor
PPBP pro-platelet basic protein (chemokine (C-X-C motif) ligand 7)
PRPF6 pre-mRNA processing factor 6
RAC1 ras-related C3 botulinum toxin substrate 1 (rho family, small GTP binding protein Rac1)
RBM45 RNA binding motif protein 45
RNASE2 ribonuclease, RNase A family, 2 (liver, eosinophil-derived neurotoxin)
RNASE3 ribonuclease, RNase A family, 3
S100A8 S100 calcium binding protein A8
S100A9 S100 calcium binding protein A9
SELE selectin E
SELL selectin L
SELP selectin P (granule membrane protein 140kDa, antigen CD62)
SELPLG selectin P ligand
SEMA4D sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4D
SEMA6A sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A
SLC5A2 solute carrier family 5 (sodium/glucose cotransporter), member 2
SOAT1 sterol O-acyltransferase 1
TGFB1 transforming growth factor, beta 1
TIMM8A translocase of inner mitochondrial membrane 8 homolog A (yeast)
TNF tumor necrosis factor
TNFRSF12A tumor necrosis factor receptor superfamily, member 12A
TNFSF12 tumor necrosis factor (ligand) superfamily, member 12
TNFSF12-TNFSF13 TNFSF12-TNFSF13 readthrough
TSLP thymic stromal lymphopoietin
TXNRD1 thioredoxin reductase 1
VCAM1 vascular cell adhesion molecule 1
VEGFA vascular endothelial growth factor A
ZAP70 zeta-chain (TCR) associated protein kinase 70kDa