Keloid Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description A tough heaped-up scar that rises quite abruptly above the rest of the skin. It is irregularly shaped and tends to enlarge progressively. Keloids arise when there is too much collagen formed in the dermis during the repair of connective tissue. (BRENDA Tissue and Enzyme Source Ontology, BTO_0003669)
External Link https://www.disgenet.org/browser/0/1/0/C0022548
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Genes

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

Symbol Name
ACE angiotensin I converting enzyme
ACTB actin, beta
ACTRT2 actin-related protein T2
ADAM33 ADAM metallopeptidase domain 33
AGT angiotensinogen (serpin peptidase inhibitor, clade A, member 8)
AKT1 v-akt murine thymoma viral oncogene homolog 1
ALB albumin
APC adenomatous polyposis coli
APOL1 apolipoprotein L, 1
ARG1 arginase 1
ARHGDIA Rho GDP dissociation inhibitor (GDI) alpha
ASPN asporin
ATP6AP2 ATPase, H+ transporting, lysosomal accessory protein 2
ATP7A ATPase, Cu++ transporting, alpha polypeptide
BGN biglycan
BMP1 bone morphogenetic protein 1
CALCA calcitonin-related polypeptide alpha
CAPG capping protein (actin filament), gelsolin-like
CAV1 caveolin 1, caveolae protein, 22kDa
CCK cholecystokinin
CCN2 cellular communication network factor 2
CCND1 cyclin D1
CDH11 cadherin 11, type 2, OB-cadherin (osteoblast)
CDK11B cyclin-dependent kinase 11B
CDKN2A cyclin-dependent kinase inhibitor 2A
CLIC1 chloride intracellular channel 1
COL10A1 collagen, type X, alpha 1
COL1A1 collagen, type I, alpha 1
COL3A1 collagen, type III, alpha 1
COL5A1 collagen, type V, alpha 1
COMP cartilage oligomeric matrix protein
CRABP1 cellular retinoic acid binding protein 1
CREBBP CREB binding protein
CTHRC1 collagen triple helix repeat containing 1
CTNNB1 catenin (cadherin-associated protein), beta 1, 88kDa
CTSB cathepsin B
CTSD cathepsin D
CTSG cathepsin G
CXCL12 chemokine (C-X-C motif) ligand 12
CXCR1 chemokine (C-X-C motif) receptor 1
DCN decorin
DDR1 discoidin domain receptor tyrosine kinase 1
DDR2 discoidin domain receptor tyrosine kinase 2
DPP4 dipeptidyl-peptidase 4
EDN1 endothelin 1
EGFR epidermal growth factor receptor
EIF5A eukaryotic translation initiation factor 5A
EP300 E1A binding protein p300
FAP fibroblast activation protein, alpha
FBN2 fibrillin 2
FGF2 fibroblast growth factor 2 (basic)
FGG fibrinogen gamma chain
FLNA filamin A, alpha
FN1 fibronectin 1
FOXL2 forkhead box L2
FOXM1 forkhead box M1
FTH1 ferritin, heavy polypeptide 1
FTL ferritin, light polypeptide
GDF9 growth differentiation factor 9
GLB1 galactosidase, beta 1
GSK3B glycogen synthase kinase 3 beta
HAS1 hyaluronan synthase 1
HBD hemoglobin, delta
HGF hepatocyte growth factor (hepapoietin A; scatter factor)
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
HMGB1 high mobility group box 1
HNRNPH3 heterogeneous nuclear ribonucleoprotein H3 (2H9)
HSPA4 heat shock 70kDa protein 4
HSPA9 heat shock 70kDa protein 9 (mortalin)
HSPB1 heat shock 27kDa protein 1
HSPB2 heat shock 27kDa protein 2
HSPB3 heat shock 27kDa protein 3
HTRA1 HtrA serine peptidase 1
HUS1B HUS1 checkpoint homolog b (S. pombe)
IGF1R insulin-like growth factor 1 receptor
IL10 interleukin 10
IL17A interleukin 17A
IL22 interleukin 22
IL6 interleukin 6
ITGA5 integrin, alpha 5 (fibronectin receptor, alpha polypeptide)
KLF10 Kruppel-like factor 10
LAMA1 laminin, alpha 1
LGALS1 lectin, galactoside-binding, soluble, 1
MIF macrophage migration inhibitory factor (glycosylation-inhibiting factor)
MMP1 matrix metallopeptidase 1
MMP13 matrix metallopeptidase 13
MMP19 matrix metallopeptidase 19
MMP2 matrix metallopeptidase 2
MT1A metallothionein 1A
MYDGF myeloid-derived growth factor
MYH8 myosin, heavy chain 8, skeletal muscle, perinatal
MYH9 myosin, heavy chain 9, non-muscle
MYL6B myosin, light chain 6B, alkali, smooth muscle and non-muscle
NEDD4 neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase
NLRC5 NLR family, CARD domain containing 5
NR3C1 nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)
NRG1 neuregulin 1
OSM oncostatin M
PDGFA platelet-derived growth factor alpha polypeptide
PFN1 profilin 1
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
POSTN periostin, osteoblast specific factor
PPARG peroxisome proliferator-activated receptor gamma
PRDX1 peroxiredoxin 1
PRDX2 peroxiredoxin 2
PTEN phosphatase and tensin homolog
PTGS1 prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase)
PTN pleiotrophin
RAN RAN, member RAS oncogene family
REN renin
RTTN rotatin
RUNX2 runt-related transcription factor 2
S100A10 S100 calcium binding protein A10
S100A12 S100 calcium binding protein A12
S100A4 S100 calcium binding protein A4
S100A8 S100 calcium binding protein A8
S100A9 S100 calcium binding protein A9
SERPINB2 serpin peptidase inhibitor, clade B (ovalbumin), member 2
SERPINB5 serpin peptidase inhibitor, clade B (ovalbumin), member 5
SERPINE1 serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1
SERPINF1 serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 1
SERPINH1 serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1)
SFN stratifin
SFRP1 secreted frizzled-related protein 1
SIRT3 sirtuin 3
SKOR1 SKI family transcriptional corepressor 1
SMAD2 SMAD family member 2
SMAD3 SMAD family member 3
SMAD4 SMAD family member 4
SMAD7 SMAD family member 7
SMN1 survival of motor neuron 1, telomeric
SMN2 survival of motor neuron 2, centromeric
SMUG1 single-strand-selective monofunctional uracil-DNA glycosylase 1
SPP1 secreted phosphoprotein 1
STAT3 signal transducer and activator of transcription 3 (acute-phase response factor)
TAGLN transgelin
TGFB1 transforming growth factor, beta 1
TGFBI transforming growth factor, beta-induced, 68kDa
TIMP1 TIMP metallopeptidase inhibitor 1
TINAGL1 tubulointerstitial nephritis antigen-like 1
TNC tenascin C
TNF tumor necrosis factor
TNFAIP6 tumor necrosis factor, alpha-induced protein 6
TP53 tumor protein p53
TP63 tumor protein p63
TPM1 tropomyosin 1 (alpha)
TPSB2 tryptase beta 2 (gene/pseudogene)
VDR vitamin D (1,25- dihydroxyvitamin D3) receptor
VEGFA vascular endothelial growth factor A
VIM vimentin
WNT2 wingless-type MMTV integration site family member 2
YAP1 Yes-associated protein 1