epidermolysis bullosa simplex Gene Set

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

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

Symbol Name Standardized Value
KRT14 keratin 14, type I 2.87701
KRT5 keratin 5, type II 2.5391
PLEC plectin 2.33394
KRT81 keratin 81, type II 1.90893
KRT9 keratin 9, type I 1.81781
KRT86 keratin 86, type II 1.80788
EXPH5 exophilin 5 1.75777
KRT1 keratin 1, type II 1.66465
KRT10 keratin 10, type I 1.38472
KRT2 keratin 2, type II 1.30663
TGM5 transglutaminase 5 1.25994
DES desmin 1.21392
COL17A1 collagen, type XVII, alpha 1 1.17249
KRT16 keratin 16, type I 1.17164
SPINK6 serine peptidase inhibitor, Kazal type 6 1.15624
SPINK9 serine peptidase inhibitor, Kazal type 9 1.09461
KRTAP11-1 keratin associated protein 11-1 1.05429
KRT6A keratin 6A, type II 1.05303
KRT17 keratin 17, type I 0.991065
KRT6B keratin 6B, type II 0.944938
DSC2 desmocollin 2 0.801154
GFAP glial fibrillary acidic protein 0.779841
CPSF4 cleavage and polyadenylation specific factor 4, 30kDa 0.745578
STUB1 STIP1 homology and U-box containing protein 1, E3 ubiquitin protein ligase 0.715215
FLG filaggrin 0.698313
DUSP10 dual specificity phosphatase 10 0.662387
ITGB4 integrin, beta 4 0.645375
CTNND1 catenin (cadherin-associated protein), delta 1 0.626888
GPT2 glutamic pyruvate transaminase (alanine aminotransferase) 2 0.605372
BFSP2 beaded filament structural protein 2, phakinin 0.572662
PKP1 plakophilin 1 0.550911
KRT12 keratin 12, type I 0.541217
DUSP5 dual specificity phosphatase 5 0.533475
FERMT1 fermitin family member 1 0.523045
DSP desmoplakin 0.512648
STS steroid sulfatase (microsomal), isozyme S 0.502292
CDSN corneodesmosin 0.491597
CHRNE cholinergic receptor, nicotinic, epsilon (muscle) 0.46655
DST dystonin 0.431894
KRT3 keratin 3, type II 0.42739
VCL vinculin 0.421016
ACP1 acid phosphatase 1, soluble 0.403064
KRT4 keratin 4, type II 0.397843
GPT glutamic-pyruvate transaminase (alanine aminotransferase) 0.397098
KLK11 kallikrein-related peptidase 11 0.393374
TRADD TNFRSF1A-associated via death domain 0.372958
ITGA6 integrin, alpha 6 0.366301
HSPA1B heat shock 70kDa protein 1B 0.365932
IVL involucrin 0.357814
DUSP6 dual specificity phosphatase 6 0.355235
COL7A1 collagen, type VII, alpha 1 0.352659
KRT15 keratin 15, type I 0.348246
GZMM granzyme M (lymphocyte met-ase 1) 0.344207
LPP LIM domain containing preferred translocation partner in lipoma 0.340539
GREM2 gremlin 2, DAN family BMP antagonist 0.304503
NEFM neurofilament, medium polypeptide 0.292975
PEPD peptidase D 0.285802
NID1 nidogen 1 0.248905
LOR loricrin 0.240148
JUP junction plakoglobin 0.230755
PGM1 phosphoglucomutase 1 0.223509
ATP2A2 ATPase, Ca++ transporting, cardiac muscle, slow twitch 2 0.223509
HSPA1A heat shock 70kDa protein 1A 0.201635
GLI2 GLI family zinc finger 2 0.200982
RICTOR RPTOR independent companion of MTOR, complex 2 0.199356
CCL19 chemokine (C-C motif) ligand 19 0.198709
MAPK8 mitogen-activated protein kinase 8 0.193915
DMD dystrophin 0.185016
DSG1 desmoglein 1 0.169812