epidermolysis bullosa Gene Set

Dataset DISEASES Text-mining Gene-Disease Assocation Evidence Scores
Category disease or phenotype associations
Type disease
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Genes

180 genes co-occuring with the disease epidermolysis bullosa in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

Symbol Name Standardized Value
COL7A1 collagen, type VII, alpha 1 4.09685
LAMB3 laminin, beta 3 2.85126
LAMC2 laminin, gamma 2 2.58279
COL17A1 collagen, type XVII, alpha 1 2.48
KRT14 keratin 14, type I 2.42583
PLEC plectin 2.20043
KRT5 keratin 5, type II 2.14226
ITGB4 integrin, beta 4 2.11388
ITGA6 integrin, alpha 6 1.9178
LAMA3 laminin, alpha 3 1.60815
CD79A CD79a molecule, immunoglobulin-associated alpha 1.58492
KRT81 keratin 81, type II 1.58225
KRT9 keratin 9, type I 1.48472
KRT86 keratin 86, type II 1.47989
EXPH5 exophilin 5 1.37905
FERMT1 fermitin family member 1 1.35986
KRT1 keratin 1, type II 1.32236
LAMB2 laminin, beta 2 (laminin S) 1.2813
DSP desmoplakin 1.08454
FN1 fibronectin 1 1.0837
DSG1 desmoglein 1 1.0711
DST dystonin 1.0606
FLII flightless I homolog (Drosophila) 1.05387
KRT10 keratin 10, type I 1.01976
MED10 mediator complex subunit 10 0.988957
NID1 nidogen 1 0.985585
FLG filaggrin 0.978006
LAMC1 laminin, gamma 1 (formerly LAMB2) 0.97254
KRT2 keratin 2, type II 0.944521
ASB14 ankyrin repeat and SOCS box containing 14 0.918436
TGM5 transglutaminase 5 0.900335
DES desmin 0.856905
KRT16 keratin 16, type I 0.816745
ELMO2 engulfment and cell motility 2 0.805257
SPINK6 serine peptidase inhibitor, Kazal type 6 0.801974
MMP1 matrix metallopeptidase 1 0.786394
FREM1 FRAS1 related extracellular matrix 1 0.766759
CDSN corneodesmosin 0.766351
COL16A1 collagen, type XVI, alpha 1 0.761454
SPINK9 serine peptidase inhibitor, Kazal type 9 0.742329
BMP1 bone morphogenetic protein 1 0.72329
MATN1 matrilin 1, cartilage matrix protein 0.716425
KRTAP11-1 keratin associated protein 11-1 0.703536
KRT6A keratin 6A, type II 0.70233
DSC2 desmocollin 2 0.695504
DSG3 desmoglein 3 0.681096
STS steroid sulfatase (microsomal), isozyme S 0.660404
JUP junction plakoglobin 0.646165
APLF aprataxin and PNKP like factor 0.64577
KRT17 keratin 17, type I 0.643797
FREM3 FRAS1 related extracellular matrix 3 0.642615
TGFBI transforming growth factor, beta-induced, 68kDa 0.629635
KRT6B keratin 6B, type II 0.60069
PKP1 plakophilin 1 0.592506
TMIE transmembrane inner ear 0.583941
ERBB2IP erbb2 interacting protein 0.572273
PCP2 Purkinje cell protein 2 0.552463
AFP alpha-fetoprotein 0.548195
NPNT nephronectin 0.547032
CD1B CD1b molecule 0.51919
IVL involucrin 0.503441
GPC6 glypican 6 0.449571
GFAP glial fibrillary acidic protein 0.446182
ITGA3 integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor) 0.446182
DAPK3 death-associated protein kinase 3 0.434899
C1ORF167 chromosome 1 open reading frame 167 0.422515
ACHE acetylcholinesterase (Yt blood group) 0.422515
CPSF4 cleavage and polyadenylation specific factor 4, 30kDa 0.41465
SLCO1B3 solute carrier organic anion transporter family, member 1B3 0.400453
LAMB1 laminin, beta 1 0.399334
SNX9 sorting nexin 9 0.395608
MMP7 matrix metallopeptidase 7 0.388909
FREM2 FRAS1 related extracellular matrix protein 2 0.388538
KRT15 keratin 15, type I 0.387794
STUB1 STIP1 homology and U-box containing protein 1, E3 ubiquitin protein ligase 0.386679
GRIP1 glutamate receptor interacting protein 1 0.386679
WARS tryptophanyl-tRNA synthetase 0.386679
LPP LIM domain containing preferred translocation partner in lipoma 0.379997
G0S2 G0/G1 switch 2 0.377773
NHS Nance-Horan syndrome (congenital cataracts and dental anomalies) 0.371847
CD151 CD151 molecule (Raph blood group) 0.371847
LINC00207 long intergenic non-protein coding RNA 207 0.371107
DUSP10 dual specificity phosphatase 10 0.337975
HNMT histamine N-methyltransferase 0.32993
MMP14 matrix metallopeptidase 14 (membrane-inserted) 0.326281
BHLHE22 basic helix-loop-helix family, member e22 0.31464
VCL vinculin 0.313915
UROS uroporphyrinogen III synthase 0.30848
CTNND1 catenin (cadherin-associated protein), delta 1 0.305226
DDN dendrin 0.294053
CLEC2A C-type lectin domain family 2, member A 0.293334
C3 complement component 3 0.289386
AMELY amelogenin, Y-linked 0.287593
GPT2 glutamic pyruvate transaminase (alanine aminotransferase) 2 0.285444
SRRM2 serine/arginine repetitive matrix 2 0.285086
MMP3 matrix metallopeptidase 3 0.281153
FRAS1 Fraser extracellular matrix complex subunit 1 0.274732
TMPRSS13 transmembrane protease, serine 13 0.270108
EPRS glutamyl-prolyl-tRNA synthetase 0.268687
HBEGF heparin-binding EGF-like growth factor 0.267267
AMELX amelogenin, X-linked 0.258064
FCGR2B Fc fragment of IgG, low affinity IIb, receptor (CD32) 0.256652
BFSP2 beaded filament structural protein 2, phakinin 0.255594
CELSR3 cadherin, EGF LAG seven-pass G-type receptor 3 0.247852
AMBN ameloblastin (enamel matrix protein) 0.240148
LYZ lysozyme 0.237009
KRT12 keratin 12, type I 0.226952
DUSP5 dual specificity phosphatase 5 0.220424
DMD dystrophin 0.21974
GPR148 G protein-coupled receptor 148 0.216332
CD44 CD44 molecule (Indian blood group) 0.213959
TGM1 transglutaminase 1 0.212945
CHRNE cholinergic receptor, nicotinic, epsilon (muscle) 0.192031
COL4A2 collagen, type IV, alpha 2 0.189551
TDG thymine-DNA glycosylase 0.18591
SOX18 SRY (sex determining region Y)-box 18 0.177851
CKAP5 cytoskeleton associated protein 5 0.176757
RAET1E retinoic acid early transcript 1E 0.172291
ZNF436 zinc finger protein 436 0.170299
COL4A5 collagen, type IV, alpha 5 0.169812
GPR83 G protein-coupled receptor 83 0.168854
CFP complement factor properdin 0.167452
COL4A6 collagen, type IV, alpha 6 0.166319
MBD4 methyl-CpG binding domain protein 4 0.164786
SRRM1 serine/arginine repetitive matrix 1 0.164359
MMP9 matrix metallopeptidase 9 0.163523
HSPA8 heat shock 70kDa protein 8 0.163111
MMP13 matrix metallopeptidase 13 0.161716
GLB1 galactosidase, beta 1 0.158605
PPL periplakin 0.157765
KLK11 kallikrein-related peptidase 11 0.143553
C5AR1 complement component 5a receptor 1 0.1367
LAMA2 laminin, alpha 2 0.136388
NCF1 neutrophil cytosolic factor 1 0.136275
FCGRT Fc fragment of IgG, receptor, transporter, alpha 0.136031
KRT3 keratin 3, type II 0.135857
GBE1 glucan (1,4-alpha-), branching enzyme 1 0.135406
ACP1 acid phosphatase 1, soluble 0.13511
KRT4 keratin 4, type II 0.134941
GPT glutamic-pyruvate transaminase (alanine aminotransferase) 0.134916
PLOD1 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1 0.134866
DYNC1I2 dynein, cytoplasmic 1, intermediate chain 2 0.134767
TRADD TNFRSF1A-associated via death domain 0.134076
RAPGEF1 Rap guanine nucleotide exchange factor (GEF) 1 0.134076
HSPA1B heat shock 70kDa protein 1B 0.133815
DUSP6 dual specificity phosphatase 6 0.1334
GZMM granzyme M (lymphocyte met-ase 1) 0.132951
AMPD1 adenosine monophosphate deaminase 1 0.132782
COL4A4 collagen, type IV, alpha 4 0.132561
COL4A1 collagen, type IV, alpha 1 0.132529
FBN1 fibrillin 1 0.131798
EEF1A1P6 eukaryotic translation elongation factor 1 alpha 1 pseudogene 6 0.131678
DCN decorin 0.131626
ID3 inhibitor of DNA binding 3, dominant negative helix-loop-helix protein 0.131573
GREM2 gremlin 2, DAN family BMP antagonist 0.131123
NEFM neurofilament, medium polypeptide 0.130519
PEPD peptidase D 0.130124
NHLRC1 NHL repeat containing E3 ubiquitin protein ligase 1 0.128761
LOR loricrin 0.127204
ATP2A2 ATPase, Ca++ transporting, cardiac muscle, slow twitch 2 0.125924
PGM1 phosphoglucomutase 1 0.125924
CD81 CD81 molecule 0.125414
MBL2 mannose-binding lectin (protein C) 2, soluble 0.124975
RXRA retinoid X receptor, alpha 0.124185
HSPA1A heat shock 70kDa protein 1A 0.123996
GLI2 GLI family zinc finger 2 0.123933
RICTOR RPTOR independent companion of MTOR, complex 2 0.123776
CCL19 chemokine (C-C motif) ligand 19 0.123712
EEF1A1 eukaryotic translation elongation factor 1 alpha 1 0.12368
MAPK8 mitogen-activated protein kinase 8 0.123223
ANO1 anoctamin 1, calcium activated chloride channel 0.122889
FDPS farnesyl diphosphate synthase 0.122889
COL4A3 collagen, type IV, alpha 3 (Goodpasture antigen) 0.121419
COL3A1 collagen, type III, alpha 1 0.120976
HSP90AA1 heat shock protein 90kDa alpha (cytosolic), class A member 1 0.120563
P4HB prolyl 4-hydroxylase, beta polypeptide 0.120486
LUM lumican 0.119468
FURIN furin (paired basic amino acid cleaving enzyme) 0.119186
ARG1 arginase 1 0.118898
F8 coagulation factor VIII, procoagulant component 0.118652