Edpidermolysis Bullosa Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
External Link https://www.disgenet.org/browser/0/1/0/C1275114
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Genes

114 genes associated with the disease Edpidermolysis Bullosa in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
ABCC11 ATP-binding cassette, sub-family C (CFTR/MRP), member 11
ABCC8 ATP-binding cassette, sub-family C (CFTR/MRP), member 8
ACTB actin, beta
ATG5 autophagy related 5
ATG7 autophagy related 7
ATP6AP2 ATPase, H+ transporting, lysosomal accessory protein 2
B3GAT1 beta-1,3-glucuronyltransferase 1
BEST1 bestrophin 1
BHLHE23 basic helix-loop-helix family, member e23
BMP1 bone morphogenetic protein 1
C5AR1 complement component 5a receptor 1
CARD9 caspase recruitment domain family, member 9
CCL21 chemokine (C-C motif) ligand 21
CD151 CD151 molecule (Raph blood group)
CD160 CD160 molecule
CEACAM5 carcinoembryonic antigen-related cell adhesion molecule 5
COL17A1 collagen, type XVII, alpha 1
COL1A1 collagen, type I, alpha 1
COL2A1 collagen, type II, alpha 1
COL7A1 collagen, type VII, alpha 1
CPSF4 cleavage and polyadenylation specific factor 4, 30kDa
CXCL12 chemokine (C-X-C motif) ligand 12
CXCL8 chemokine (C-X-C motif) ligand 8
DCTN4 dynactin 4 (p62)
DES desmin
DMD dystrophin
DSC2 desmocollin 2
DSC3 desmocollin 3
DSP desmoplakin
DST dystonin
EGFR epidermal growth factor receptor
ERBIN erbb2 interacting protein
EXPH5 exophilin 5
FERMT1 fermitin family member 1
FLG filaggrin
FLII flightless I homolog (Drosophila)
FN1 fibronectin 1
GALK1 galactokinase 1
GFAP glial fibrillary acidic protein
GPT glutamic-pyruvate transaminase (alanine aminotransferase)
GRIP1 glutamate receptor interacting protein 1
GTF2H1 general transcription factor IIH, polypeptide 1, 62kDa
HLA-DRB1 major histocompatibility complex, class II, DR beta 1
HMGB1 high mobility group box 1
HSP90AA1 heat shock protein 90kDa alpha (cytosolic), class A member 1
HSPA4 heat shock 70kDa protein 4
HSPG2 heparan sulfate proteoglycan 2
IFNG interferon, gamma
IGFBP3 insulin-like growth factor binding protein 3
IL1A interleukin 1, alpha
IL1B interleukin 1, beta
IL1RN interleukin 1 receptor antagonist
IL2 interleukin 2
IL6 interleukin 6
ITGA3 integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor)
ITGA6 integrin, alpha 6
ITGAM integrin, alpha M (complement component 3 receptor 3 subunit)
ITGB4 integrin, beta 4
IVL involucrin
JUP junction plakoglobin
KHDRBS1 KH domain containing, RNA binding, signal transduction associated 1
KLHL24 kelch-like family member 24
KRT1 keratin 1, type II
KRT10 keratin 10, type I
KRT14 keratin 14, type I
KRT17 keratin 17, type I
KRT18 keratin 18, type I
KRT20 keratin 20, type I
KRT5 keratin 5, type II
KRT9 keratin 9, type I
LAD1 ladinin 1
LAMA3 laminin, alpha 3
LAMB3 laminin, beta 3
LAMC1 laminin, gamma 1 (formerly LAMB2)
LAMC2 laminin, gamma 2
LDLR low density lipoprotein receptor
MAPK8 mitogen-activated protein kinase 8
MATN1 matrilin 1, cartilage matrix protein
MMP1 matrix metallopeptidase 1
MMP13 matrix metallopeptidase 13
MMP14 matrix metallopeptidase 14 (membrane-inserted)
MMP9 matrix metallopeptidase 9
MS4A1 membrane-spanning 4-domains, subfamily A, member 1
NAT9 N-acetyltransferase 9 (GCN5-related, putative)
NECTIN1 nectin cell adhesion molecule 1
NHS Nance-Horan syndrome (congenital cataracts and dental anomalies)
NR1I2 nuclear receptor subfamily 1, group I, member 2
NUP62 nucleoporin 62kDa
PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
PIK3CB phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta
PIK3CD phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta
PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma
PLEC plectin
PLOD3 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3
RPS27A ribosomal protein S27a
S100A8 S100 calcium binding protein A8
S100A9 S100 calcium binding protein A9
SDC2 syndecan 2
SELL selectin L
SERPINH1 serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1)
SLCO1B3 solute carrier organic anion transporter family, member 1B3
SQSTM1 sequestosome 1
STS steroid sulfatase (microsomal), isozyme S
SYK spleen tyrosine kinase
TBX1 T-box 1
TGFB1 transforming growth factor, beta 1
TGM3 transglutaminase 3
TGM5 transglutaminase 5
TIMP1 TIMP metallopeptidase inhibitor 1
TIMP3 TIMP metallopeptidase inhibitor 3
TMSB4X thymosin beta 4, X-linked
TNF tumor necrosis factor
TP53 tumor protein p53
VIM vimentin