Hamartoma Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description A disordered proliferation of mature tissues that is native to the site of origin - eg, exostoses, nevi and soft tissue hamartomas. Although most hamartomas are benign, some histologic subtypes - eg, neuromuscular hamartoma, may proliferate aggressively such as mesenchymal cystic hamartoma, Sclerosing epithelial hamartoma, Sclerosing metanephric hamartoma. (Human Phenotype Ontology, HP_0010566)
External Link https://www.disgenet.org/browser/0/1/0/C0018552
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Genes

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

Symbol Name
ABCA4 ATP-binding cassette, sub-family A (ABC1), member 4
ABCB1 ATP-binding cassette, sub-family B (MDR/TAP), member 1
ABCB6 ATP-binding cassette, sub-family B (MDR/TAP), member 6 (Langereis blood group)
ACAD8 acyl-CoA dehydrogenase family, member 8
ACAT1 acetyl-CoA acetyltransferase 1
ACE angiotensin I converting enzyme
ACHE acetylcholinesterase (Yt blood group)
ACTB actin, beta
ACVR1 activin A receptor, type I
ADA adenosine deaminase
ADAM17 ADAM metallopeptidase domain 17
AHSA1 AHA1, activator of heat shock 90kDa protein ATPase homolog 1 (yeast)
AIMP2 aminoacyl tRNA synthetase complex-interacting multifunctional protein 2
AKT1 v-akt murine thymoma viral oncogene homolog 1
AKT1S1 AKT1 substrate 1 (proline-rich)
ALB albumin
ALDH1A1 aldehyde dehydrogenase 1 family, member A1
APC adenomatous polyposis coli
AR androgen receptor
ARHGEF2 Rho/Rac guanine nucleotide exchange factor (GEF) 2
ARSD arylsulfatase D
ASPG asparaginase
ATF3 activating transcription factor 3
ATG16L1 autophagy related 16-like 1 (S. cerevisiae)
BAX BCL2-associated X protein
BCL2 B-cell CLL/lymphoma 2
BDNF brain-derived neurotrophic factor
BFSP2 beaded filament structural protein 2, phakinin
BGLAP bone gamma-carboxyglutamate (gla) protein
BMPR1A bone morphogenetic protein receptor, type IA
BRAF B-Raf proto-oncogene, serine/threonine kinase
BRCA1 breast cancer 1, early onset
BRCA2 breast cancer 2, early onset
C1ORF228 chromosome 1 open reading frame 228
C7ORF49 chromosome 7 open reading frame 49
CAMP cathelicidin antimicrobial peptide
CASP3 caspase 3, apoptosis-related cysteine peptidase
CAT catalase
CAV1 caveolin 1, caveolae protein, 22kDa
CCL11 chemokine (C-C motif) ligand 11
CCL2 chemokine (C-C motif) ligand 2
CCL20 chemokine (C-C motif) ligand 20
CCN2 cellular communication network factor 2
CCNH cyclin H
CCR9 chemokine (C-C motif) receptor 9
CD34 CD34 molecule
CD40 CD40 molecule, TNF receptor superfamily member 5
CD6 CD6 molecule
CD86 CD86 molecule
CDC73 cell division cycle 73
CDH2 cadherin 2, type 1, N-cadherin (neuronal)
CDK7 cyclin-dependent kinase 7
CDKN1A cyclin-dependent kinase inhibitor 1A (p21, Cip1)
CDKN2A cyclin-dependent kinase inhibitor 2A
CDX2 caudal type homeobox 2
CEACAM6 carcinoembryonic antigen-related cell adhesion molecule 6 (non-specific cross reacting antigen)
CLCN7 chloride channel, voltage-sensitive 7
CLOCK clock circadian regulator
COMP cartilage oligomeric matrix protein
COX2
CRK v-crk avian sarcoma virus CT10 oncogene homolog
CRP C-reactive protein, pentraxin-related
CSH1 chorionic somatomammotropin hormone 1 (placental lactogen)
CSH2 chorionic somatomammotropin hormone 2
CTNNB1 catenin (cadherin-associated protein), beta 1, 88kDa
CYBB cytochrome b-245, beta polypeptide
CYP11A1 cytochrome P450, family 11, subfamily A, polypeptide 1
CYP1A1 cytochrome P450, family 1, subfamily A, polypeptide 1
DCTN6 dynactin 6
DDR1 discoidin domain receptor tyrosine kinase 1
DEFB4A defensin, beta 4A
DEFB4B defensin, beta 4B
DGCR2 DiGeorge syndrome critical region gene 2
DICER1 dicer 1, ribonuclease type III
DKK1 dickkopf WNT signaling pathway inhibitor 1
DMBT1 deleted in malignant brain tumors 1
DNAJC6 DnaJ (Hsp40) homolog, subfamily C, member 6
DSC2 desmocollin 2
DSG2 desmoglein 2
DYNC2LI1 dynein, cytoplasmic 2, light intermediate chain 1
EBNA1BP2 EBNA1 binding protein 2
EGF epidermal growth factor
EGFR epidermal growth factor receptor
EPCAM epithelial cell adhesion molecule
ERCC2 excision repair cross-complementation group 2
ERCC3 excision repair cross-complementation group 3
ERCC5 excision repair cross-complementation group 5
ERCC6 excision repair cross-complementation group 6
ERCC8 excision repair cross-complementation group 8
EREG epiregulin
ESR2 estrogen receptor 2 (ER beta)
EYA1 EYA transcriptional coactivator and phosphatase 1
EYA2 EYA transcriptional coactivator and phosphatase 2
FAP fibroblast activation protein, alpha
FBLIM1 filamin binding LIM protein 1
FBXW7 F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase
FFAR2 free fatty acid receptor 2
FGF2 fibroblast growth factor 2 (basic)
FGFR2 fibroblast growth factor receptor 2
FKBP5 FK506 binding protein 5
FLCN folliculin
FN1 fibronectin 1
FOXO3 forkhead box O3
FSTL1 follistatin-like 1
GABPA GA binding protein transcription factor, alpha subunit 60kDa
GAPDH glyceraldehyde-3-phosphate dehydrogenase
GCH1 GTP cyclohydrolase 1
GDF15 growth differentiation factor 15
GH1 growth hormone 1
GHSR growth hormone secretagogue receptor
GLI3 GLI family zinc finger 3
GLS glutaminase
GNAS GNAS complex locus
GOPC golgi-associated PDZ and coiled-coil motif containing
GORASP1 golgi reassembly stacking protein 1, 65kDa
GPR68 G protein-coupled receptor 68
GPX1 glutathione peroxidase 1
GRAP2 GRB2-related adaptor protein 2
GREM1 gremlin 1, DAN family BMP antagonist
GRM1 glutamate receptor, metabotropic 1
GSTK1 glutathione S-transferase kappa 1
GSTM1 glutathione S-transferase mu 1
GSTM2 glutathione S-transferase mu 2 (muscle)
GSTT1 glutathione S-transferase theta 1
GTF2H1 general transcription factor IIH, polypeptide 1, 62kDa
GTF2H2 general transcription factor IIH, polypeptide 2, 44kDa
GTF2H3 general transcription factor IIH, polypeptide 3, 34kDa
GTF2H4 general transcription factor IIH, polypeptide 4, 52kDa
GTF2H5 general transcription factor IIH, polypeptide 5
HAMP hepcidin antimicrobial peptide
HAVCR1 hepatitis A virus cellular receptor 1
HEPH hephaestin
HFE hemochromatosis
HIF1A hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)
HLA-DPB1 major histocompatibility complex, class II, DP beta 1
HLA-DQA1 major histocompatibility complex, class II, DQ alpha 1
HLA-DQA2 major histocompatibility complex, class II, DQ alpha 2
HLA-DQB1 major histocompatibility complex, class II, DQ beta 1
HLA-DRB4 major histocompatibility complex, class II, DR beta 4
HMGA1 high mobility group AT-hook 1
HMGA2 high mobility group AT-hook 2
HSP90B1 heat shock protein 90kDa beta (Grp94), member 1
HSPA9 heat shock 70kDa protein 9 (mortalin)
IFI27 interferon, alpha-inducible protein 27
IFNA1 interferon, alpha 1
IFNA13 interferon, alpha 13
IFNG interferon, gamma
IGF2 insulin-like growth factor 2
IL10 interleukin 10
IL15 interleukin 15
IL15RA interleukin 15 receptor, alpha
IL17A interleukin 17A
IL17D interleukin 17D
IL17F interleukin 17F
IL19 interleukin 19
IL1B interleukin 1, beta
IL23A interleukin 23, alpha subunit p19
IL23R interleukin 23 receptor
IL26 interleukin 26
IL27 interleukin 27
IL4 interleukin 4
IL6 interleukin 6
IL9 interleukin 9
JAK2 Janus kinase 2
KAT8 K(lysine) acetyltransferase 8
KCNN4 potassium channel, calcium activated intermediate/small conductance subfamily N alpha, member 4
KIAA2018 KIAA2018
KIF3A kinesin family member 3A
KLK3 kallikrein-related peptidase 3
KLLN killin, p53-regulated DNA replication inhibitor
KRT20 keratin 20, type I
LAMA4 laminin, alpha 4
LANCL1 LanC lantibiotic synthetase component C-like 1 (bacterial)
LBR lamin B receptor
LCN2 lipocalin 2
LGR5 leucine-rich repeat containing G protein-coupled receptor 5
LHFP lipoma HMGIC fusion partner
LMLN leishmanolysin-like (metallopeptidase M8 family)
LPP LIM domain containing preferred translocation partner in lipoma
LTA lymphotoxin alpha
LYPD1 LY6/PLAUR domain containing 1
MAOA monoamine oxidase A
MAP3K5 mitogen-activated protein kinase kinase kinase 5
MAPK1 mitogen-activated protein kinase 1
MAPK14 mitogen-activated protein kinase 14
MAPK8 mitogen-activated protein kinase 8
MAT1A methionine adenosyltransferase I, alpha
MBL2 mannose-binding lectin (protein C) 2, soluble
MDM2 MDM2 proto-oncogene, E3 ubiquitin protein ligase
MMP9 matrix metallopeptidase 9
MOGS mannosyl-oligosaccharide glucosidase
MPC1 mitochondrial pyruvate carrier 1
MSH3 mutS homolog 3
MSH6 mutS homolog 6
MSMB microseminoprotein, beta-
MST1 macrophage stimulating 1
MTOR mechanistic target of rapamycin (serine/threonine kinase)
MUC4 mucin 4, cell surface associated
MUTYH mutY homolog
MYCN v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog
MYDGF myeloid-derived growth factor
NEK9 NIMA-related kinase 9
NFE2L2 nuclear factor, erythroid 2-like 2
NGFR nerve growth factor receptor
NOD2 nucleotide-binding oligomerization domain containing 2
NPEPPS aminopeptidase puromycin sensitive
NR1I2 nuclear receptor subfamily 1, group I, member 2
NR3C1 nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)
NTRK2 neurotrophic tyrosine kinase, receptor, type 2
OCLN occludin
OSR1 odd-skipped related transciption factor 1
OSTM1 osteopetrosis associated transmembrane protein 1
P2RY12 purinergic receptor P2Y, G-protein coupled, 12
PGF placental growth factor
PGRMC1 progesterone receptor membrane component 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
PLAG1 pleiomorphic adenoma gene 1
PMS2 PMS2 postmeiotic segregation increased 2 (S. cerevisiae)
POLDIP2 polymerase (DNA-directed), delta interacting protein 2
POMC proopiomelanocortin
POU5F1 POU class 5 homeobox 1
PPIA peptidylprolyl isomerase A (cyclophilin A)
PROS1 protein S (alpha)
PROX1 prospero homeobox 1
PRRX1 paired related homeobox 1
PSAT1 phosphoserine aminotransferase 1
PSMD7 proteasome (prosome, macropain) 26S subunit, non-ATPase, 7
PSMD9 proteasome (prosome, macropain) 26S subunit, non-ATPase, 9
PTEN phosphatase and tensin homolog
PTGS2 prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)
PTK2B protein tyrosine kinase 2 beta
PTPN22 protein tyrosine phosphatase, non-receptor type 22 (lymphoid)
RABEPK Rab9 effector protein with kelch motifs
RAD51B RAD51 paralog B
RAP1A RAP1A, member of RAS oncogene family
RASAL1 RAS protein activator like 1 (GAP1 like)
RELA v-rel avian reticuloendotheliosis viral oncogene homolog A
RET ret proto-oncogene
RNF19A ring finger protein 19A, RBR E3 ubiquitin protein ligase
RPE ribulose-5-phosphate-3-epimerase
RPSA ribosomal protein SA
SARDH sarcosine dehydrogenase
SCD stearoyl-CoA desaturase (delta-9-desaturase)
SDC1 syndecan 1
SDHB succinate dehydrogenase complex, subunit B, iron sulfur (Ip)
SDHC succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa
SDHD succinate dehydrogenase complex, subunit D, integral membrane protein
SDS serine dehydratase
SEC23B Sec23 homolog B (S. cerevisiae)
SEMA4D sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4D
SERPINH1 serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1)
SGCE sarcoglycan, epsilon
SHH sonic hedgehog
SIRPA signal-regulatory protein alpha
SLC11A1 solute carrier family 11 (proton-coupled divalent metal ion transporter), member 1
SLC12A3 solute carrier family 12 (sodium/chloride transporter), member 3
SLC12A9 solute carrier family 12, member 9
SLC16A3 solute carrier family 16 (monocarboxylate transporter), member 3
SLC16A4 solute carrier family 16, member 4
SLC29A2 solute carrier family 29 (equilibrative nucleoside transporter), member 2
SLC2A1 solute carrier family 2 (facilitated glucose transporter), member 1
SLC38A2 solute carrier family 38, member 2
SLC6A4 solute carrier family 6 (neurotransmitter transporter), member 4
SLCO6A1 solute carrier organic anion transporter family, member 6A1
SLURP1 secreted LY6/PLAUR domain containing 1
SMAD2 SMAD family member 2
SMAD4 SMAD family member 4
SMAD7 SMAD family member 7
SMAD9 SMAD family member 9
SMARCB1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1
SMO smoothened, frizzled class receptor
SMUG1 single-strand-selective monofunctional uracil-DNA glycosylase 1
SORD sorbitol dehydrogenase
SPRED1 sprouty-related, EVH1 domain containing 1
SQSTM1 sequestosome 1
SSSCA1 Sjogren syndrome/scleroderma autoantigen 1
SST somatostatin
STAT3 signal transducer and activator of transcription 3 (acute-phase response factor)
STAT5A signal transducer and activator of transcription 5A
STAT5B signal transducer and activator of transcription 5B
STK11 serine/threonine kinase 11
SUCNR1 succinate receptor 1
SUFU suppressor of fused homolog (Drosophila)
SYT1 synaptotagmin I
TAGAP T-cell activation RhoGTPase activating protein
TBC1D9 TBC1 domain family, member 9 (with GRAM domain)
TCERG1L transcription elongation regulator 1-like
TCTN3 tectonic family member 3
TEP1 telomerase-associated protein 1
TESC tescalcin
TFAP2A transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)
TFF3 trefoil factor 3 (intestinal)
TG thyroglobulin
TGFB1 transforming growth factor, beta 1
TGFBI transforming growth factor, beta-induced, 68kDa
TGM2 transglutaminase 2
TICAM2 toll-like receptor adaptor molecule 2
TIMP1 TIMP metallopeptidase inhibitor 1
TLR2 toll-like receptor 2
TLR4 toll-like receptor 4
TMED7 transmembrane emp24 protein transport domain containing 7
TMED7-TICAM2 TMED7-TICAM2 readthrough
TMPRSS13 transmembrane protease, serine 13
TMPRSS6 transmembrane protease, serine 6
TNF tumor necrosis factor
TNFRSF11B tumor necrosis factor receptor superfamily, member 11b
TNFRSF1A tumor necrosis factor receptor superfamily, member 1A
TNFSF15 tumor necrosis factor (ligand) superfamily, member 15
TNNI3 troponin I type 3 (cardiac)
TOR1A torsin family 1, member A (torsin A)
TP53 tumor protein p53
TP63 tumor protein p63
TPMT thiopurine S-methyltransferase
TSC1 tuberous sclerosis 1
TSC2 tuberous sclerosis 2
TXNIP thioredoxin interacting protein
UBC ubiquitin C
USP8 ubiquitin specific peptidase 8
VEGFA vascular endothelial growth factor A
VIM vimentin
VWF von Willebrand factor
WDPCP WD repeat containing planar cell polarity effector
WNK1 WNK lysine deficient protein kinase 1