bullous skin disease Gene Set

Dataset DISEASES Text-mining Gene-Disease Assocation Evidence Scores
Category disease or phenotype associations
Type disease
Description An autoimmune disease of skin and connective tissue that is characterized by blisters filled with a watery fluid, located_in skin. The disease is associated with the amount of gluten ingested. (Human Disease Ontology, DOID_8502)
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Genes

221 genes co-occuring with the disease bullous skin disease in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

Symbol Name Standardized Value
COL17A1 collagen, type XVII, alpha 1 3.54288
CD79A CD79a molecule, immunoglobulin-associated alpha 2.63349
DSG3 desmoglein 3 2.3613
COL7A1 collagen, type VII, alpha 1 2.30085
DSG1 desmoglein 1 2.14378
DST dystonin 2.04236
DSP desmoplakin 1.93515
PPL periplakin 1.87791
DSC1 desmocollin 1 1.72456
EVPL envoplakin 1.46056
ITGA6 integrin, alpha 6 1.43376
DSC3 desmocollin 3 1.3241
MACF1 microtubule-actin crosslinking factor 1 1.22605
FN1 fibronectin 1 1.18152
SRRM1 serine/arginine repetitive matrix 1 1.10678
A2ML1 alpha-2-macroglobulin-like 1 1.07656
ITGB4 integrin, beta 4 1.0362
HLA-DRB1 major histocompatibility complex, class II, DR beta 1 1.0071
TGM2 transglutaminase 2 0.990644
TGM3 transglutaminase 3 0.924626
LAMA3 laminin, alpha 3 0.920085
LAMC2 laminin, gamma 2 0.916375
CGREF1 cell growth regulator with EF-hand domain 1 0.902799
TMIGD2 transmembrane and immunoglobulin domain containing 2 0.902799
LAMB2 laminin, beta 2 (laminin S) 0.888029
TPSB2 tryptase beta 2 (gene/pseudogene) 0.883111
KRT3 keratin 3, type II 0.8741
NID1 nidogen 1 0.854449
IVL involucrin 0.828229
C3 complement component 3 0.818796
FLG filaggrin 0.808129
LAMB3 laminin, beta 3 0.768801
HLA-C major histocompatibility complex, class I, C 0.766759
CD4 CD4 molecule 0.743141
DSC2 desmocollin 2 0.740299
PLG plasminogen 0.737865
IL5 interleukin 5 0.724098
FRMD4B FERM domain containing 4B 0.688291
HSPG2 heparan sulfate proteoglycan 2 0.679499
TNFRSF1B tumor necrosis factor receptor superfamily, member 1B 0.673917
MMP9 matrix metallopeptidase 9 0.650903
SYNE3 spectrin repeat containing, nuclear envelope family member 3 0.634742
NCKIPSD NCK interacting protein with SH3 domain 0.613574
CFP complement factor properdin 0.610838
HLA-DQB3 major histocompatibility complex, class II, DQ beta 3 0.60225
RNASE3 ribonuclease, RNase A family, 3 0.587833
CCL26 chemokine (C-C motif) ligand 26 0.585887
HOXC8 homeobox C8 0.58005
CD44 CD44 molecule (Indian blood group) 0.579272
KRT13 keratin 13, type I 0.574605
GALNT6 polypeptide N-acetylgalactosaminyltransferase 6 0.574217
LAMC1 laminin, gamma 1 (formerly LAMB2) 0.570718
LAMB4 laminin, beta 4 0.556732
TPSAB1 tryptase alpha/beta 1 0.549359
BHLHE23 basic helix-loop-helix family, member e23 0.541605
ELANE elastase, neutrophil expressed 0.526904
HLA-DQB1 major histocompatibility complex, class II, DQ beta 1 0.526132
PITPNB phosphatidylinositol transfer protein, beta 0.521502
C5AR1 complement component 5a receptor 1 0.513033
PLAU plasminogen activator, urokinase 0.508424
CDSN corneodesmosin 0.50689
LPP LIM domain containing preferred translocation partner in lipoma 0.497321
MED10 mediator complex subunit 10 0.492359
IL1A interleukin 1, alpha 0.491215
TGM6 transglutaminase 6 0.485505
IL2RA interleukin 2 receptor, alpha 0.47753
KRT14 keratin 14, type I 0.47753
HLA-DQA1 major histocompatibility complex, class II, DQ alpha 1 0.465416
DHODH dihydroorotate dehydrogenase (quinone) 0.456732
TNF tumor necrosis factor 0.451454
TGFB1 transforming growth factor, beta 1 0.439034
CD200 CD200 molecule 0.437906
CXCL8 chemokine (C-X-C motif) ligand 8 0.43753
HLA-DPB1 major histocompatibility complex, class II, DP beta 1 0.427765
MMP10 matrix metallopeptidase 10 0.426265
RAB12 RAB12, member RAS oncogene family 0.42364
CCL17 chemokine (C-C motif) ligand 17 0.42214
SELE selectin E 0.416896
COL4A3 collagen, type IV, alpha 3 (Goodpasture antigen) 0.410909
GSTA3 glutathione S-transferase alpha 3 0.409787
GSTA2 glutathione S-transferase alpha 2 0.408666
GSTA4 glutathione S-transferase alpha 4 0.407545
MMP3 matrix metallopeptidase 3 0.403064
GSTA1 glutathione S-transferase alpha 1 0.401572
TNFSF13B tumor necrosis factor (ligand) superfamily, member 13b 0.397843
CMA1 chymase 1, mast cell 0.393746
SEC23A Sec23 homolog A (S. cerevisiae) 0.390769
KIF27 kinesin family member 27 0.379626
PLEC plectin 0.37555
BCKDHB branched chain keto acid dehydrogenase E1, beta polypeptide 0.375179
FCER2 Fc fragment of IgE, low affinity II, receptor for (CD23) 0.372958
F8 coagulation factor VIII, procoagulant component 0.368149
BASP1 brain abundant, membrane attached signal protein 1 0.367779
MMP7 matrix metallopeptidase 7 0.365562
ICAM1 intercellular adhesion molecule 1 0.357814
FCGR2B Fc fragment of IgG, low affinity IIb, receptor (CD32) 0.353027
C4A complement component 4A (Rodgers blood group) 0.35082
FCGRT Fc fragment of IgG, receptor, transporter, alpha 0.341639
KRT4 keratin 4, type II 0.334681
KITLG KIT ligand 0.325916
DHX15 DEAH (Asp-Glu-Ala-His) box helicase 15 0.324094
ITGA3 integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor) 0.309928
SERPINH1 serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1) 0.307757
PRLH prolactin releasing hormone 0.30631
PKP3 plakophilin 3 0.30631
HAND2 heart and neural crest derivatives expressed 2 0.305587
GALNT1 polypeptide N-acetylgalactosaminyltransferase 1 0.303059
MPO myeloperoxidase 0.296931
MUC16 mucin 16, cell surface associated 0.286519
TRAC T cell receptor alpha constant 0.28151
DGAT2L6 diacylglycerol O-acyltransferase 2-like 6 0.279367
ITGB2 integrin, beta 2 (complement component 3 receptor 3 and 4 subunit) 0.278297
IL13 interleukin 13 0.277227
NISCH nischarin 0.27687
ADAM9 ADAM metallopeptidase domain 9 0.274376
F3 coagulation factor III (thromboplastin, tissue factor) 0.268687
GOSR2 golgi SNAP receptor complex member 2 0.267977
AHNAK AHNAK nucleoprotein 0.26514
HSD11B1 hydroxysteroid (11-beta) dehydrogenase 1 0.261599
FOXP3 forkhead box P3 0.259124
CD40 CD40 molecule, TNF receptor superfamily member 5 0.258417
CCL13 chemokine (C-C motif) ligand 13 0.256299
COL4A3BP collagen, type IV, alpha 3 (Goodpasture antigen) binding protein 0.255946
TPMT thiopurine S-methyltransferase 0.252774
PA2G4 proliferation-associated 2G4, 38kDa 0.251718
MMP1 matrix metallopeptidase 1 0.23666
FRK fyn-related Src family tyrosine kinase 0.236312
MIF macrophage migration inhibitory factor (glycosylation-inhibiting factor) 0.23492
PTGER3 prostaglandin E receptor 3 (subtype EP3) 0.232836
SEBOX SEBOX homeobox 0.230063
IGKV1D-42 immunoglobulin kappa variable 1D-42 (non-functional) 0.228333
IL4I1 interleukin 4 induced 1 0.227297
WARS tryptophanyl-tRNA synthetase 0.225917
VCL vinculin 0.225917
ADAM19 ADAM metallopeptidase domain 19 0.222136
CCL11 chemokine (C-C motif) ligand 11 0.220424
IL2 interleukin 2 0.214297
LAMA5 laminin, alpha 5 0.212945
PPP2R1B protein phosphatase 2, regulatory subunit A, beta 0.211934
CTSG cathepsin G 0.208579
HDAC4 histone deacetylase 4 0.20658
ALB albumin 0.200006
TIMP1 TIMP metallopeptidase inhibitor 1 0.199033
CCL18 chemokine (C-C motif) ligand 18 (pulmonary and activation-regulated) 0.198709
HLA-DRB4 major histocompatibility complex, class II, DR beta 4 0.198386
CD40LG CD40 ligand 0.198386
NID2 nidogen 2 (osteonidogen) 0.198064
SERPINF2 serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 2 0.197742
HLA-A major histocompatibility complex, class I, A 0.196779
CTBS chitobiase, di-N-acetyl- 0.190168
GPR135 G protein-coupled receptor 135 0.188326
LIM2 lens intrinsic membrane protein 2, 19kDa 0.187113
MMP12 matrix metallopeptidase 12 0.18651
LOR loricrin 0.183541
TRAF5 TNF receptor-associated factor 5 0.18151
MYO9B myosin IXB 0.180084
LCT lactase 0.179802
JUP junction plakoglobin 0.175679
IL1B interleukin 1, beta 0.167224
CFH complement factor H 0.165655
DPP4 dipeptidyl-peptidase 4 0.165001
FSTL1 follistatin-like 1 0.164786
HP haptoglobin 0.164359
HPR haptoglobin-related protein 0.161139
COL4A2 collagen, type IV, alpha 2 0.13943
CMKLR1 chemerin chemokine-like receptor 1 0.137614
PEG3 paternally expressed 3 0.137065
GLS2 glutaminase 2 (liver, mitochondrial) 0.136312
PTH parathyroid hormone 0.134239
KERA keratocan 0.132552
B4GALNT1 beta-1,4-N-acetyl-galactosaminyl transferase 1 0.131003
MUC7 mucin 7, secreted 0.129856
COL4A6 collagen, type IV, alpha 6 0.129574
MED28 mediator complex subunit 28 0.12781
MUC5B mucin 5B, oligomeric mucus/gel-forming 0.127152
GIF gastric intrinsic factor (vitamin B synthesis) 0.12563
RPS6 ribosomal protein S6 0.125488
PTGER4 prostaglandin E receptor 4 (subtype EP4) 0.124559
HECA headcase homolog (Drosophila) 0.123596
FUT2 fucosyltransferase 2 (secretor status included) 0.123154
COL4A4 collagen, type IV, alpha 4 0.122129
COL4A1 collagen, type IV, alpha 1 0.122104
PTGFR prostaglandin F receptor (FP) 0.121311
PRTN3 proteinase 3 0.121258
IFNG interferon, gamma 0.120726
IFI16 interferon, gamma-inducible protein 16 0.120672
P2RY2 purinergic receptor P2Y, G-protein coupled, 2 0.120645
GAST gastrin 0.118599
GNG8 guanine nucleotide binding protein (G protein), gamma 8 0.116929
HLA-B major histocompatibility complex, class I, B 0.1168
TNFRSF21 tumor necrosis factor receptor superfamily, member 21 0.116735
CD8A CD8a molecule 0.115242
LUM lumican 0.111332
IL10 interleukin 10 0.111021
HYLS1 hydrolethalus syndrome 1 0.109899
TSPO translocator protein (18kDa) 0.109776
LAG3 lymphocyte-activation gene 3 0.109489
TLR5 toll-like receptor 5 0.109161
SH3BP5 SH3-domain binding protein 5 (BTK-associated) 0.108783
PRODH proline dehydrogenase (oxidase) 1 0.107676
ALPI alkaline phosphatase, intestinal 0.107676
CD68 CD68 molecule 0.107026
TIMP2 TIMP metallopeptidase inhibitor 2 0.107026
LAX1 lymphocyte transmembrane adaptor 1 0.106893
TGM1 transglutaminase 1 0.106225
LAD1 ladinin 1 0.106091
SLC17A5 solute carrier family 17 (acidic sugar transporter), member 5 0.106091
PCDH8 protocadherin 8 0.105639
GPHA2 glycoprotein hormone alpha 2 0.105273
PSAT1 phosphoserine aminotransferase 1 0.104817
F2 coagulation factor II (thrombin) 0.104348
LTF lactotransferrin 0.104114
IGH immunoglobulin heavy locus 0.103549
CD22 CD22 molecule 0.103549
CKAP5 cytoskeleton associated protein 5 0.103453
CD1B CD1b molecule 0.103164
CFB complement factor B 0.102876
DCXR dicarbonyl/L-xylulose reductase 0.102876
ZNF436 zinc finger protein 436 0.102245
ITGAE integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide) 0.102245
SIX1 SIX homeobox 1 0.102098