Adenoid Cystic Carcinoma Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description Carcinoma characterized by bands or cylinders of hyalinized or mucinous stroma separating or surrounded by nests or cords of small epithelial cells. When the cylinders occur within masses of epithelial cells, they give the tissue a perforated, sievelike, or cribriform appearance. Such tumors occur in the mammary glands, the mucous glands of the upper and lower respiratory tract, and the salivary glands. They are malignant but slow-growing, and tend to spread locally via the nerves. (Dorland, 27th ed)|A malignant tumor arising from the epithelial cells. Microscopically, the neoplastic epithelial cells form cylindrical spatial configurations (cribriform or classic type of adenoid cystic carcinoma), cordlike structures (tubular type of adenoid cystic carcinoma), or solid structures (basaloid variant of adenoid cystic carcinoma). Adenoid cystic carcinomas mostly occur in the salivary glands. Other primary sites of involvement include the lacrimal gland, the larynx, and the lungs. Adenoid cystic carcinomas spread along nerve sheaths, resulting in severe pain, and they tend to recur. Lymph node metastases are unusual; hematogenous tumor spread is characteristic. (Experimental Factor Ontology, EFO_0000231)
External Link https://www.disgenet.org/browser/0/1/0/C1266007
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Genes

321 genes associated with the disease Adenoid Cystic Carcinoma in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
ACACA acetyl-CoA carboxylase alpha
ACACB acetyl-CoA carboxylase beta
ACCS 1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)
ACKR3 atypical chemokine receptor 3
ADAM10 ADAM metallopeptidase domain 10
ADAM9 ADAM metallopeptidase domain 9
ADK adenosine kinase
AGR2 anterior gradient 2
AKT3 v-akt murine thymoma viral oncogene homolog 3
ALCAM activated leukocyte cell adhesion molecule
ALK anaplastic lymphoma receptor tyrosine kinase
ANO1 anoctamin 1, calcium activated chloride channel
AQP1 aquaporin 1 (Colton blood group)
AQP3 aquaporin 3 (Gill blood group)
AQP5 aquaporin 5
ARHGEF2 Rho/Rac guanine nucleotide exchange factor (GEF) 2
ARID1A AT rich interactive domain 1A (SWI-like)
ARID2 AT rich interactive domain 2 (ARID, RFX-like)
ARID4B AT rich interactive domain 4B (RBP1-like)
ARID5B AT rich interactive domain 5B (MRF1-like)
ASIC1 acid sensing (proton gated) ion channel 1
ASPM asp (abnormal spindle) homolog, microcephaly associated (Drosophila)
ATF1 activating transcription factor 1
ATG5 autophagy related 5
ATM ATM serine/threonine kinase
ATRX alpha thalassemia/mental retardation syndrome X-linked
BBC3 BCL2 binding component 3
BCL11A B-cell CLL/lymphoma 11A (zinc finger protein)
BCL2 B-cell CLL/lymphoma 2
BCL2A1 BCL2-related protein A1
BCOR BCL6 corepressor
BCORL1 BCL6 corepressor-like 1
BECN1 beclin 1, autophagy related
BMS1 BMS1 ribosome biogenesis factor
BNIP3 BCL2/adenovirus E1B 19kDa interacting protein 3
BRCA1 breast cancer 1, early onset
BRD1 bromodomain containing 1
BSG basigin (Ok blood group)
BTBD7 BTB (POZ) domain containing 7
BUB1 BUB1 mitotic checkpoint serine/threonine kinase
C1ORF228 chromosome 1 open reading frame 228
CALM1 calmodulin 1 (phosphorylase kinase, delta)
CALM2 calmodulin 2 (phosphorylase kinase, delta)
CALM3 calmodulin 3 (phosphorylase kinase, delta)
CAMKMT calmodulin-lysine N-methyltransferase
CCL28 chemokine (C-C motif) ligand 28
CCN1 cellular communication network factor 1
CCND1 cyclin D1
CCR5 chemokine (C-C motif) receptor 5 (gene/pseudogene)
CD274 CD274 molecule
CD276 CD276 molecule
CD44 CD44 molecule (Indian blood group)
CDH1 cadherin 1, type 1, E-cadherin (epithelial)
CDH4 cadherin 4, type 1, R-cadherin (retinal)
CDH5 cadherin 5, type 2 (vascular endothelium)
CDK2 cyclin-dependent kinase 2
CDKN2A cyclin-dependent kinase inhibitor 2A
CENPF centromere protein F, 350/400kDa
CFAP251 cilia and flagella associated protein 251
CKAP4 cytoskeleton-associated protein 4
CMTR2 cap methyltransferase 2
CNTN6 contactin 6
CREBBP CREB binding protein
CTAG1A cancer/testis antigen 1A
CTAG1B cancer/testis antigen 1B
CTNNB1 catenin (cadherin-associated protein), beta 1, 88kDa
CTSB cathepsin B
CTSD cathepsin D
CTTN cortactin
CXCR4 chemokine (C-X-C motif) receptor 4
CYLD cylindromatosis (turban tumor syndrome)
DAPK1 death-associated protein kinase 1
DCTN6 dynactin 6
DDX23 DEAD (Asp-Glu-Ala-Asp) box polypeptide 23
DHCR24 24-dehydrocholesterol reductase
DKK2 dickkopf WNT signaling pathway inhibitor 2
DNMT1 DNA (cytosine-5-)-methyltransferase 1
DTL denticleless E3 ubiquitin protein ligase homolog (Drosophila)
DTX4 deltex 4, E3 ubiquitin ligase
EBNA1BP2 EBNA1 binding protein 2
EFHD1 EF-hand domain family, member D1
EGFR epidermal growth factor receptor
EN1 engrailed homeobox 1
EP300 E1A binding protein p300
EPCAM epithelial cell adhesion molecule
EPHA2 EPH receptor A2
ERBB2 erb-b2 receptor tyrosine kinase 2
ERBB3 erb-b2 receptor tyrosine kinase 3
ERBIN erbb2 interacting protein
ESPL1 extra spindle pole bodies homolog 1 (S. cerevisiae)
ESR1 estrogen receptor 1
EWSR1 EWS RNA-binding protein 1
FABP7 fatty acid binding protein 7, brain
FAM188B family with sequence similarity 188, member B
FANCA Fanconi anemia, complementation group A
FAT1 FAT atypical cadherin 1
FBXW7 F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase
FGF16 fibroblast growth factor 16
FGF2 fibroblast growth factor 2 (basic)
FGFR1 fibroblast growth factor receptor 1
FGFR4 fibroblast growth factor receptor 4
FHIT fragile histidine triad
FN1 fibronectin 1
FOLH1 folate hydrolase (prostate-specific membrane antigen) 1
FOXO3 forkhead box O3
FOXP2 forkhead box P2
FZD2 frizzled class receptor 2
GAS2 growth arrest-specific 2
GAS6 growth arrest-specific 6
GATA1 GATA binding protein 1 (globin transcription factor 1)
GEMIN2 gem (nuclear organelle) associated protein 2
GINS2 GINS complex subunit 2 (Psf2 homolog)
GJA1 gap junction protein, alpha 1, 43kDa
GPC3 glypican 3
GUCY1A3 guanylate cyclase 1, soluble, alpha 3
HES1 hes family bHLH transcription factor 1
HIF1A hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)
HIST1H1E histone cluster 1, H1e
HIST1H2AL histone cluster 1, H2al
HOMER3 homer scaffolding protein 3
HOXB13 homeobox B13
HOXB7 homeobox B7
HRAS Harvey rat sarcoma viral oncogene homolog
HSPB1 heat shock 27kDa protein 1
HSPB2 heat shock 27kDa protein 2
HSPB3 heat shock 27kDa protein 3
HSPG2 heparan sulfate proteoglycan 2
ICAM5 intercellular adhesion molecule 5, telencephalin
ID1 inhibitor of DNA binding 1, dominant negative helix-loop-helix protein
IDH1 isocitrate dehydrogenase 1 (NADP+), soluble
IFI27 interferon, alpha-inducible protein 27
IGF1R insulin-like growth factor 1 receptor
IGFBP2 insulin-like growth factor binding protein 2, 36kDa
IL17RD interleukin 17 receptor D
IL2 interleukin 2
IL9 interleukin 9
ILK integrin-linked kinase
INSRR insulin receptor-related receptor
IRX4 iroquois homeobox 4
ISYNA1 inositol-3-phosphate synthase 1
ITGB4 integrin, beta 4
JAG1 jagged 1
JAK2 Janus kinase 2
JMJD1C jumonji domain containing 1C
KANSL1 KAT8 regulatory NSL complex subunit 1
KAT6A K(lysine) acetyltransferase 6A
KDM6A lysine (K)-specific demethylase 6A
KDM6B lysine (K)-specific demethylase 6B
KIF22 kinesin family member 22
KIT v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
KMT2C lysine (K)-specific methyltransferase 2C
KRAS Kirsten rat sarcoma viral oncogene homolog
KRIT1 KRIT1, ankyrin repeat containing
KRT14 keratin 14, type I
KRT15 keratin 15, type I
KRT17 keratin 17, type I
KRT5 keratin 5, type II
KRT7 keratin 7, type II
LANCL1 LanC lantibiotic synthetase component C-like 1 (bacterial)
LEF1 lymphoid enhancer-binding factor 1
LGALS3 lectin, galactoside-binding, soluble, 3
LHX2 LIM homeobox 2
LMNA lamin A/C
LONP1 lon peptidase 1, mitochondrial
LYZ lysozyme
MACC1 metastasis associated in colon cancer 1
MAGI1 membrane associated guanylate kinase, WW and PDZ domain containing 1
MAGI2 membrane associated guanylate kinase, WW and PDZ domain containing 2
MAML2 mastermind-like 2 (Drosophila)
MAML3 mastermind-like 3 (Drosophila)
MAP2K2 mitogen-activated protein kinase kinase 2
MAPK1 mitogen-activated protein kinase 1
MAPK3 mitogen-activated protein kinase 3
MARCKS myristoylated alanine-rich protein kinase C substrate
MARK2 MAP/microtubule affinity-regulating kinase 2
MCAM melanoma cell adhesion molecule
MCM8 minichromosome maintenance complex component 8
MDM2 MDM2 proto-oncogene, E3 ubiquitin protein ligase
MET MET proto-oncogene, receptor tyrosine kinase
MFN2 mitofusin 2
MGA MGA, MAX dimerization protein
MIER2 mesoderm induction early response 1, family member 2
MIF macrophage migration inhibitory factor (glycosylation-inhibiting factor)
MLC1 megalencephalic leukoencephalopathy with subcortical cysts 1
MLLT11 myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 11
MMP15 matrix metallopeptidase 15 (membrane-inserted)
MMP2 matrix metallopeptidase 2
MMP7 matrix metallopeptidase 7
MMP9 matrix metallopeptidase 9
MORF4L1 mortality factor 4 like 1
MTOR mechanistic target of rapamycin (serine/threonine kinase)
MTUS1 microtubule associated tumor suppressor 1
MYB v-myb avian myeloblastosis viral oncogene homolog
MYBL1 v-myb avian myeloblastosis viral oncogene homolog-like 1
MYC v-myc avian myelocytomatosis viral oncogene homolog
MYCBP MYC binding protein
MYCN v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog
NCAM1 neural cell adhesion molecule 1
NDRG2 NDRG family member 2
NETO2 neuropilin (NRP) and tolloid (TLL)-like 2
NFIB nuclear factor I/B
NFKB1 nuclear factor of kappa light polypeptide gene enhancer in B-cells 1
NGF nerve growth factor (beta polypeptide)
NNMT nicotinamide N-methyltransferase
NOS1 nitric oxide synthase 1 (neuronal)
NOS2 nitric oxide synthase 2, inducible
NOTCH1 notch 1
NOTCH2 notch 2
NOTCH4 notch 4
NPM1 nucleophosmin (nucleolar phosphoprotein B23, numatrin)
NRP2 neuropilin 2
NSD1 nuclear receptor binding SET domain protein 1
NSD2 nuclear receptor binding SET domain protein 2
NTF3 neurotrophin 3
NTRK1 neurotrophic tyrosine kinase, receptor, type 1
NTRK3 neurotrophic tyrosine kinase, receptor, type 3
OBP2A odorant binding protein 2A
PA2G4 proliferation-associated 2G4, 38kDa
PAX3 paired box 3
PCNA proliferating cell nuclear antigen
PCSK1N proprotein convertase subtilisin/kexin type 1 inhibitor
PDCD1LG2 programmed cell death 1 ligand 2
PDPN podoplanin
PDZK1 PDZ domain containing 1
PECAM1 platelet/endothelial cell adhesion molecule 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
PIM1 Pim-1 proto-oncogene, serine/threonine kinase
PIN1 peptidylprolyl cis/trans isomerase, NIMA-interacting 1
PLAG1 pleiomorphic adenoma gene 1
PPM1D protein phosphatase, Mg2+/Mn2+ dependent, 1D
PPP2R2B protein phosphatase 2, regulatory subunit B, beta
PRKD1 protein kinase D1
PRKDC protein kinase, DNA-activated, catalytic polypeptide
PROM1 prominin 1
PROX1 prospero homeobox 1
PRRX1 paired related homeobox 1
PSMD7 proteasome (prosome, macropain) 26S subunit, non-ATPase, 7
PSMD9 proteasome (prosome, macropain) 26S subunit, non-ATPase, 9
PTCH1 patched 1
PTEN phosphatase and tensin homolog
PTGS2 prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)
PTP4A3 protein tyrosine phosphatase type IVA, member 3
PTPA protein phosphatase 2 phosphatase activator
PYGB phosphorylase, glycogen; brain
RABEPK Rab9 effector protein with kelch motifs
RAC1 ras-related C3 botulinum toxin substrate 1 (rho family, small GTP binding protein Rac1)
RASSF1 Ras association (RalGDS/AF-6) domain family member 1
RBFOX2 RNA binding protein, fox-1 homolog (C. elegans) 2
RECK reversion-inducing-cysteine-rich protein with kazal motifs
REG4 regenerating islet-derived family, member 4
RPE65 retinal pigment epithelium-specific protein 65kDa
RPL39 ribosomal protein L39
RPSA ribosomal protein SA
RUNX3 runt-related transcription factor 3
S100A1 S100 calcium binding protein A1
S100B S100 calcium binding protein B
SBSN suprabasin
SCAF11 SR-related CTD-associated factor 11
SDC1 syndecan 1
SERPINF1 serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 1
SETD2 SET domain containing 2
SF3B1 splicing factor 3b, subunit 1, 155kDa
SFN stratifin
SGTA small glutamine-rich tetratricopeptide repeat (TPR)-containing, alpha
SKA1 spindle and kinetochore associated complex subunit 1
SKP2 S-phase kinase-associated protein 2, E3 ubiquitin protein ligase
SLC24A3 solute carrier family 24 (sodium/potassium/calcium exchanger), member 3
SLC2A1 solute carrier family 2 (facilitated glucose transporter), member 1
SLC9A3R2 solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 regulator 2
SMAD4 SMAD family member 4
SMARCA1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1
SMARCA2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2
SMARCE1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1
SMC1A structural maintenance of chromosomes 1A
SMR3B submaxillary gland androgen regulated protein 3B
SMUG1 single-strand-selective monofunctional uracil-DNA glycosylase 1
SNAI1 snail family zinc finger 1
SON SON DNA binding protein
SOX10 SRY (sex determining region Y)-box 10
SOX11 SRY (sex determining region Y)-box 11
SOX2 SRY (sex determining region Y)-box 2
SOX4 SRY (sex determining region Y)-box 4
SPN sialophorin
SRCAP Snf2-related CREBBP activator protein
SRY sex determining region Y
SSSCA1 Sjogren syndrome/scleroderma autoantigen 1
ST3GAL4 ST3 beta-galactoside alpha-2,3-sialyltransferase 4
STAT3 signal transducer and activator of transcription 3 (acute-phase response factor)
SULT4A1 sulfotransferase family 4A, member 1
TBX1 T-box 1
TFE3 transcription factor binding to IGHM enhancer 3
TGFB1 transforming growth factor, beta 1
TICAM2 toll-like receptor adaptor molecule 2
TLK1 tousled-like kinase 1
TMED7 transmembrane emp24 protein transport domain containing 7
TMED7-TICAM2 TMED7-TICAM2 readthrough
TMPRSS4 transmembrane protease, serine 4
TNF tumor necrosis factor
TNFSF10 tumor necrosis factor (ligand) superfamily, member 10
TOP2A topoisomerase (DNA) II alpha 170kDa
TP53 tumor protein p53
TP63 tumor protein p63
TRAF6 TNF receptor-associated factor 6, E3 ubiquitin protein ligase
TXN thioredoxin
TYMS thymidylate synthetase
UBA2 ubiquitin-like modifier activating enzyme 2
UHRF1 ubiquitin-like with PHD and ring finger domains 1
USP22 ubiquitin specific peptidase 22
UVRAG UV radiation resistance associated
VCAN versican
VEGFA vascular endothelial growth factor A
VEGFC vascular endothelial growth factor C
VIM vimentin
WNT5B wingless-type MMTV integration site family, member 5B
WWOX WW domain containing oxidoreductase
XAGE1A X antigen family member 1A
ZEB2 zinc finger E-box binding homeobox 2
ZIM2 zinc finger, imprinted 2