Neurofibroma Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description A moderately firm, benign, encapsulated tumor resulting from proliferation of SCHWANN CELLS and FIBROBLASTS that includes portions of nerve fibers. The tumors usually develop along peripheral or cranial nerves and are a central feature of NEUROFIBROMATOSIS 1, where they may occur intracranially or involve spinal roots. Pathologic features include fusiform enlargement of the involved nerve. Microscopic examination reveals a disorganized and loose cellular pattern with elongated nuclei intermixed with fibrous strands. (From Adams et al., Principles of Neurology, 6th ed, p1016)|An intraneural or extraneural neoplasm arising from nerve tissues and neural sheaths. It is composed of perineurial-like fibroblasts and Schwann cells. It usually presents as a localized cutaneous lesion and less often as a circumscribed peripheral nerve mass. Patients with neurofibromatosis type 1 present with multiple masses. Neurofibromas which arise from major nerves and plexiform neurofibromas are precursor lesions to malignant peripheral nerve sheath tumors.|A moderately firm, benign, encapsulated tumor resulting from proliferation of SCHWANN CELLS and FIBROBLASTS that includes portions of nerve fibers. The tumors usually develop along peripheral or cranial nerves and are a central feature of NEUROFIBROMATOSIS 1, where they may occur intracranially or involve spinal roots. Pathologic features include fusiform enlargement of the involved nerve. Microscopic examination reveals a disorganized and loose cellular pattern with elongated nuclei intermixed with fibrous strands (MeSH). (Experimental Factor Ontology, EFO_0000622)
External Link https://www.disgenet.org/browser/0/1/0/C0027830
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Genes

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

Symbol Name
ADAP2 ArfGAP with dual PH domains 2
ALDH1A1 aldehyde dehydrogenase 1 family, member A1
AR androgen receptor
ARID1B AT rich interactive domain 1B (SWI1-like)
ATM ATM serine/threonine kinase
ATRX alpha thalassemia/mental retardation syndrome X-linked
AURKA aurora kinase A
AZIN2 antizyme inhibitor 2
BRAF B-Raf proto-oncogene, serine/threonine kinase
BRD4 bromodomain containing 4
CCL2 chemokine (C-C motif) ligand 2
CCND1 cyclin D1
CCR2 chemokine (C-C motif) receptor 2
CD274 CD274 molecule
CD38 CD38 molecule
CD44 CD44 molecule (Indian blood group)
CDK4 cyclin-dependent kinase 4
CDKN1B cyclin-dependent kinase inhibitor 1B (p27, Kip1)
CDKN2A cyclin-dependent kinase inhibitor 2A
CDKN2B cyclin-dependent kinase inhibitor 2B (p15, inhibits CDK4)
CIB1 calcium and integrin binding 1 (calmyrin)
CNP 2',3'-cyclic nucleotide 3' phosphodiesterase
CNTN2 contactin 2 (axonal)
COL3A1 collagen, type III, alpha 1
CSF1 colony stimulating factor 1 (macrophage)
CTNNB1 catenin (cadherin-associated protein), beta 1, 88kDa
CXCL10 chemokine (C-X-C motif) ligand 10
CXCL12 chemokine (C-X-C motif) ligand 12
CXCR3 chemokine (C-X-C motif) receptor 3
CXCR4 chemokine (C-X-C motif) receptor 4
DCTN6 dynactin 6
DCX doublecortin
DUSP5 dual specificity phosphatase 5
EED embryonic ectoderm development
EFNA3 ephrin-A3
EGF epidermal growth factor
EGFR epidermal growth factor receptor
EPHB2 EPH receptor B2
ERBB2 erb-b2 receptor tyrosine kinase 2
EVI2B ecotropic viral integration site 2B
EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit
FGF2 fibroblast growth factor 2 (basic)
FGF23 fibroblast growth factor 23
FN1 fibronectin 1
FOLH1 folate hydrolase (prostate-specific membrane antigen) 1
GADL1 glutamate decarboxylase-like 1
GEM GTP binding protein overexpressed in skeletal muscle
GHSR growth hormone secretagogue receptor
GSTP1 glutathione S-transferase pi 1
HGF hepatocyte growth factor (hepapoietin A; scatter factor)
HMGA2 high mobility group AT-hook 2
IFI27 interferon, alpha-inducible protein 27
IFNA2 interferon, alpha 2
KANK1 KN motif and ankyrin repeat domains 1
KIT v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
LEP leptin
MAPK1 mitogen-activated protein kinase 1
MAPK3 mitogen-activated protein kinase 3
MDK midkine (neurite growth-promoting factor 2)
MDM2 MDM2 proto-oncogene, E3 ubiquitin protein ligase
MLANA melan-A
MMP13 matrix metallopeptidase 13
MVD mevalonate (diphospho) decarboxylase
NES nestin
NF1 neurofibromin 1
NF2 neurofibromin 2 (merlin)
NGF nerve growth factor (beta polypeptide)
NKX2-1 NK2 homeobox 1
NRG1 neuregulin 1
PDCD4 programmed cell death 4 (neoplastic transformation inhibitor)
PDGFA platelet-derived growth factor alpha polypeptide
PDGFB platelet-derived growth factor beta polypeptide
PDGFRA platelet-derived growth factor receptor, alpha polypeptide
PDGFRB platelet-derived growth factor receptor, beta polypeptide
PGR progesterone receptor
PLG plasminogen
PMP22 peripheral myelin protein 22
PPARD peroxisome proliferator-activated receptor delta
PRKAR1A protein kinase, cAMP-dependent, regulatory, type I, alpha
PSMD9 proteasome (prosome, macropain) 26S subunit, non-ATPase, 9
PTEN phosphatase and tensin homolog
PTN pleiotrophin
PTPN11 protein tyrosine phosphatase, non-receptor type 11
RASA1 RAS p21 protein activator (GTPase activating protein) 1
RGS6 regulator of G-protein signaling 6
RUNX1 runt-related transcription factor 1
S100A1 S100 calcium binding protein A1
S100B S100 calcium binding protein B
SDHB succinate dehydrogenase complex, subunit B, iron sulfur (Ip)
SDHC succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa
SERPINE1 serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1
SMARCA2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2
SMARCB1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1
SMUG1 single-strand-selective monofunctional uracil-DNA glycosylase 1
SNF8 SNF8, ESCRT-II complex subunit
SOAT1 sterol O-acyltransferase 1
SOX9 SRY (sex determining region Y)-box 9
SPRED1 sprouty-related, EVH1 domain containing 1
SPRY1 sprouty homolog 1, antagonist of FGF signaling (Drosophila)
SSSCA1 Sjogren syndrome/scleroderma autoantigen 1
SST somatostatin
STAT3 signal transducer and activator of transcription 3 (acute-phase response factor)
SUFU suppressor of fused homolog (Drosophila)
SUZ12 SUZ12 polycomb repressive complex 2 subunit
SYK spleen tyrosine kinase
TGFA transforming growth factor, alpha
TGFB1 transforming growth factor, beta 1
THSD7A thrombospondin, type I, domain containing 7A
TICAM2 toll-like receptor adaptor molecule 2
TLE1 transducin-like enhancer of split 1 (E(sp1) homolog, Drosophila)
TMED7 transmembrane emp24 protein transport domain containing 7
TMED7-TICAM2 TMED7-TICAM2 readthrough
TOP2A topoisomerase (DNA) II alpha 170kDa
TP53 tumor protein p53
VDR vitamin D (1,25- dihydroxyvitamin D3) receptor
VEGFA vascular endothelial growth factor A
WT1 Wilms tumor 1