Familial Multiple Trichoepitheliomata Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
External Link https://www.disgenet.org/browser/0/1/0/C1275122
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Genes

277 genes associated with the disease Familial Multiple Trichoepitheliomata in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
ADAM10 ADAM metallopeptidase domain 10
ADAM12 ADAM metallopeptidase domain 12
ADAM9 ADAM metallopeptidase domain 9
ADIPOQ adiponectin, C1Q and collagen domain containing
AGT angiotensinogen (serpin peptidase inhibitor, clade A, member 8)
AHR aryl hydrocarbon receptor
AHSA1 AHA1, activator of heat shock 90kDa protein ATPase homolog 1 (yeast)
AIMP2 aminoacyl tRNA synthetase complex-interacting multifunctional protein 2
AKAP12 A kinase (PRKA) anchor protein 12
AKR1B10 aldo-keto reductase family 1, member B10 (aldose reductase)
AKT1 v-akt murine thymoma viral oncogene homolog 1
ALDH1A2 aldehyde dehydrogenase 1 family, member A2
ANXA1 annexin A1
APC adenomatous polyposis coli
APEX1 APEX nuclease (multifunctional DNA repair enzyme) 1
APOB apolipoprotein B
AR androgen receptor
ARID1A AT rich interactive domain 1A (SWI-like)
ATM ATM serine/threonine kinase
ATN1 atrophin 1
AXL AXL receptor tyrosine kinase
BARX1 BARX homeobox 1
BCL2 B-cell CLL/lymphoma 2
BECN1 beclin 1, autophagy related
BMI1 BMI1 proto-oncogene, polycomb ring finger
BMP4 bone morphogenetic protein 4
BNC2 basonuclin 2
BRCA1 breast cancer 1, early onset
BRCA2 breast cancer 2, early onset
BTG3 BTG family, member 3
C12ORF49 chromosome 12 open reading frame 49
C6ORF120 chromosome 6 open reading frame 120
C9 complement component 9
CA12 carbonic anhydrase XII
CA2 carbonic anhydrase II
CA9 carbonic anhydrase IX
CAMK2G calcium/calmodulin-dependent protein kinase II gamma
CASP3 caspase 3, apoptosis-related cysteine peptidase
CASP7 caspase 7, apoptosis-related cysteine peptidase
CCKBR cholecystokinin B receptor
CCN1 cellular communication network factor 1
CCND1 cyclin D1
CD274 CD274 molecule
CD34 CD34 molecule
CD55 CD55 molecule, decay accelerating factor for complement (Cromer blood group)
CD80 CD80 molecule
CDH1 cadherin 1, type 1, E-cadherin (epithelial)
CDH13 cadherin 13
CDK2AP2 cyclin-dependent kinase 2 associated protein 2
CDK4 cyclin-dependent kinase 4
CDK6 cyclin-dependent kinase 6
CDK9 cyclin-dependent kinase 9
CDKN2A cyclin-dependent kinase inhibitor 2A
CDKN2B cyclin-dependent kinase inhibitor 2B (p15, inhibits CDK4)
CDX2 caudal type homeobox 2
CLDN2 claudin 2
COL11A2 collagen, type XI, alpha 2
COL1A1 collagen, type I, alpha 1
COMMD3-BMI1 COMMD3-BMI1 readthrough
COX1
COX2
COX5A cytochrome c oxidase subunit Va
COX8A cytochrome c oxidase subunit VIIIA (ubiquitous)
CPOX coproporphyrinogen oxidase
CRK v-crk avian sarcoma virus CT10 oncogene homolog
CRNKL1 crooked neck pre-mRNA splicing factor 1
CTHRC1 collagen triple helix repeat containing 1
CTNNB1 catenin (cadherin-associated protein), beta 1, 88kDa
CTSB cathepsin B
CTSE cathepsin E
CX3CR1 chemokine (C-X3-C motif) receptor 1
CXCL8 chemokine (C-X-C motif) ligand 8
CYLD cylindromatosis (turban tumor syndrome)
CYP17A1 cytochrome P450, family 17, subfamily A, polypeptide 1
DAD1 defender against cell death 1
DKK1 dickkopf WNT signaling pathway inhibitor 1
DMD dystrophin
DUSP6 dual specificity phosphatase 6
E2F3 E2F transcription factor 3
EGF epidermal growth factor
EGFR epidermal growth factor receptor
EIF1 eukaryotic translation initiation factor 1
EIF4A2 eukaryotic translation initiation factor 4A2
EIF4E eukaryotic translation initiation factor 4E
EIF4G1 eukaryotic translation initiation factor 4 gamma, 1
ELANE elastase, neutrophil expressed
ELMO1 engulfment and cell motility 1
EMX2 empty spiracles homeobox 2
ENG endoglin
EPC1 enhancer of polycomb homolog 1 (Drosophila)
EPC2 enhancer of polycomb homolog 2 (Drosophila)
EPCAM epithelial cell adhesion molecule
EPHB2 EPH receptor B2
EPS8L3 EPS8-like 3
ERBB2 erb-b2 receptor tyrosine kinase 2
ERBB3 erb-b2 receptor tyrosine kinase 3
ERCC1 excision repair cross-complementation group 1
ERCC2 excision repair cross-complementation group 2
ERCC4 excision repair cross-complementation group 4
ESR1 estrogen receptor 1
ESR2 estrogen receptor 2 (ER beta)
FABP1 fatty acid binding protein 1, liver
FABP12 fatty acid binding protein 12
FABP6 fatty acid binding protein 6, ileal
FBLN1 fibulin 1
FGFR2 fibroblast growth factor receptor 2
FGFR3 fibroblast growth factor receptor 3
FHIT fragile histidine triad
FKBP4 FK506 binding protein 4, 59kDa
FKBP5 FK506 binding protein 5
FOXF1 forkhead box F1
FOXR2 forkhead box R2
FUT4 fucosyltransferase 4 (alpha (1,3) fucosyltransferase, myeloid-specific)
GAB2 GRB2-associated binding protein 2
GDF7 growth differentiation factor 7
GHR growth hormone receptor
GHRL ghrelin/obestatin prepropeptide
GJC2 gap junction protein, gamma 2, 47kDa
GLI1 GLI family zinc finger 1
GPBAR1 G protein-coupled bile acid receptor 1
GPX2 glutathione peroxidase 2
GRAP2 GRB2-related adaptor protein 2
GSN gelsolin
GSTP1 glutathione S-transferase pi 1
GSTT2 glutathione S-transferase theta 2 (gene/pseudogene)
HGD homogentisate 1,2-dioxygenase
HLA-B major histocompatibility complex, class I, B
HLA-C major histocompatibility complex, class I, C
HMGA2 high mobility group AT-hook 2
HNF4A hepatocyte nuclear factor 4, alpha
HOMER2 homer scaffolding protein 2
HSP90B1 heat shock protein 90kDa beta (Grp94), member 1
HSPA4 heat shock 70kDa protein 4
HSPB1 heat shock 27kDa protein 1
HSPB2 heat shock 27kDa protein 2
HSPB3 heat shock 27kDa protein 3
IDO1 indoleamine 2,3-dioxygenase 1
IFNG interferon, gamma
IGF1 insulin-like growth factor 1 (somatomedin C)
IGF1R insulin-like growth factor 1 receptor
IGF2 insulin-like growth factor 2
IGFBP2 insulin-like growth factor binding protein 2, 36kDa
IGFBP3 insulin-like growth factor binding protein 3
IL17A interleukin 17A
IL18 interleukin 18
IL18RAP interleukin 18 receptor accessory protein
IL1A interleukin 1, alpha
IL1B interleukin 1, beta
IL23R interleukin 23 receptor
IL6 interleukin 6
INHBA inhibin, beta A
INSIG2 insulin induced gene 2
ITK IL2-inducible T-cell kinase
JMJD1C jumonji domain containing 1C
JUN jun proto-oncogene
KLF4 Kruppel-like factor 4 (gut)
KLK7 kallikrein-related peptidase 7
LAMTOR2 late endosomal/lysosomal adaptor, MAPK and MTOR activator 2
LCE1E late cornified envelope 1E
LEP leptin
LGALS9 lectin, galactoside-binding, soluble, 9
LTA lymphotoxin alpha
MAGEA6 melanoma antigen family A6
MAP1LC3B microtubule-associated protein 1 light chain 3 beta
MAPK1 mitogen-activated protein kinase 1
MAPK14 mitogen-activated protein kinase 14
MAPK8 mitogen-activated protein kinase 8
MCL1 myeloid cell leukemia 1
MCM5 minichromosome maintenance complex component 5
MDM2 MDM2 proto-oncogene, E3 ubiquitin protein ligase
MEGF8 multiple EGF-like-domains 8
MELK maternal embryonic leucine zipper kinase
MET MET proto-oncogene, receptor tyrosine kinase
METTL7B methyltransferase like 7B
MGMT O-6-methylguanine-DNA methyltransferase
MLH1 mutL homolog 1
MMP1 matrix metallopeptidase 1
MMP3 matrix metallopeptidase 3
MPG N-methylpurine-DNA glycosylase
MPO myeloperoxidase
MRPL28 mitochondrial ribosomal protein L28
MSH2 mutS homolog 2
MSI1 musashi RNA-binding protein 1
MSR1 macrophage scavenger receptor 1
MTDH metadherin
MTHFR methylenetetrahydrofolate reductase (NAD(P)H)
MTOR mechanistic target of rapamycin (serine/threonine kinase)
MUC6 mucin 6, oligomeric mucus/gel-forming
MUS81 MUS81 structure-specific endonuclease subunit
MYC v-myc avian myelocytomatosis viral oncogene homolog
MYO9B myosin IXB
NELL1 NEL-like 1 (chicken)
NOC2L nucleolar complex associated 2 homolog (S. cerevisiae)
NXT1 nuclear transport factor 2-like export factor 1
OLFM4 olfactomedin 4
OMA1 OMA1 zinc metallopeptidase
PARP1 poly (ADP-ribose) polymerase 1
PECAM1 platelet/endothelial cell adhesion molecule 1
PGR progesterone receptor
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
PKP1 plakophilin 1
PLCE1 phospholipase C, epsilon 1
POLDIP2 polymerase (DNA-directed), delta interacting protein 2
PPARG peroxisome proliferator-activated receptor gamma
PPIE peptidylprolyl isomerase E (cyclophilin E)
PRKDC protein kinase, DNA-activated, catalytic polypeptide
PTEN phosphatase and tensin homolog
PTGS1 prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase)
PTGS2 prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)
PTPRC protein tyrosine phosphatase, receptor type, C
RABGEF1 RAB guanine nucleotide exchange factor (GEF) 1
RAC1 ras-related C3 botulinum toxin substrate 1 (rho family, small GTP binding protein Rac1)
RAP1A RAP1A, member of RAS oncogene family
RAP1GAP RAP1 GTPase activating protein
RBM3 RNA binding motif (RNP1, RRM) protein 3
RFC3 replication factor C (activator 1) 3, 38kDa
RIN2 Ras and Rab interactor 2
RNF128 ring finger protein 128, E3 ubiquitin protein ligase
RNF141 ring finger protein 141
RNF19A ring finger protein 19A, RBR E3 ubiquitin protein ligase
RORC RAR-related orphan receptor C
RPP14 ribonuclease P/MRP 14kDa subunit
RPS6KB1 ribosomal protein S6 kinase, 70kDa, polypeptide 1
RRAD Ras-related associated with diabetes
RUNX1 runt-related transcription factor 1
RUNX3 runt-related transcription factor 3
S100A9 S100 calcium binding protein A9
SAFB scaffold attachment factor B
SEC14L3 SEC14-like 3 (S. cerevisiae)
SERPINB3 serpin peptidase inhibitor, clade B (ovalbumin), member 3
SERPINB4 serpin peptidase inhibitor, clade B (ovalbumin), member 4
SERPINF1 serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 1
SF3B6 splicing factor 3b, subunit 6, 14kDa
SLC10A2 solute carrier family 10 (sodium/bile acid cotransporter), member 2
SLC22A18 solute carrier family 22, member 18
SLC22A3 solute carrier family 22 (organic cation transporter), member 3
SLC35A2 solute carrier family 35 (UDP-galactose transporter), member A2
SLC52A3 solute carrier family 52 (riboflavin transporter), member 3
SMAD4 SMAD family member 4
SMO smoothened, frizzled class receptor
SMUG1 single-strand-selective monofunctional uracil-DNA glycosylase 1
SOX2 SRY (sex determining region Y)-box 2
SOX4 SRY (sex determining region Y)-box 4
SOX9 SRY (sex determining region Y)-box 9
SPP1 secreted phosphoprotein 1
SRR serine racemase
STAT3 signal transducer and activator of transcription 3 (acute-phase response factor)
STK11 serine/threonine kinase 11
SUB1 SUB1 homolog (S. cerevisiae)
TAC1 tachykinin, precursor 1
TAP2 transporter 2, ATP-binding cassette, sub-family B (MDR/TAP)
TBX5 T-box 5
TERF2IP telomeric repeat binding factor 2, interacting protein
TERT telomerase reverse transcriptase
TFF1 trefoil factor 1
TIMP1 TIMP metallopeptidase inhibitor 1
TIMP3 TIMP metallopeptidase inhibitor 3
TLR4 toll-like receptor 4
TNF tumor necrosis factor
TNFRSF12A tumor necrosis factor receptor superfamily, member 12A
TNNT1 troponin T type 1 (skeletal, slow)
TP53 tumor protein p53
TRIM31 tripartite motif containing 31
TXNIP thioredoxin interacting protein
UHRF1 ubiquitin-like with PHD and ring finger domains 1
VDR vitamin D (1,25- dihydroxyvitamin D3) receptor
VEGFA vascular endothelial growth factor A
VSIR V-set immunoregulatory receptor
VTA1 vesicle (multivesicular body) trafficking 1
WIF1 WNT inhibitory factor 1
WNT3A wingless-type MMTV integration site family, member 3A
WWOX WW domain containing oxidoreductase
XIAP X-linked inhibitor of apoptosis, E3 ubiquitin protein ligase
XRCC1 X-ray repair complementing defective repair in Chinese hamster cells 1