neurofibroma Gene Set

Dataset DISEASES Text-mining Gene-Disease Association Evidence Scores
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)
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Genes

133 genes co-occuring with the disease neurofibroma in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

Symbol Name Standardized Value
NF1 neurofibromin 1 3.16933
NF2 neurofibromin 2 (merlin) 1.76456
NFIC nuclear factor I/C (CCAAT-binding transcription factor) 1.69042
NFIX nuclear factor I/X (CCAAT-binding transcription factor) 1.6877
CD34 CD34 molecule 1.49833
COPRS coordinator of PRMT5, differentiation stimulator 1.33545
B3GAT1 beta-1,3-glucuronyltransferase 1 1.18152
CLDN1 claudin 1 1.11057
CLDN7 claudin 7 1.09545
ENO2 enolase 2 (gamma, neuronal) 1.06312
ADAP2 ArfGAP with dual PH domains 2 1.06312
TEFM transcription elongation factor, mitochondrial 1.0585
UTP6 UTP6, small subunit (SSU) processome component, homolog (yeast) 0.9839
RAB11FIP4 RAB11 family interacting protein 4 (class II) 0.948269
LRRC37B leucine rich repeat containing 37B 0.908142
NGFR nerve growth factor receptor 0.882292
DHH desert hedgehog 0.856905
TP53 tumor protein p53 0.826999
CRLF3 cytokine receptor-like factor 3 0.820437
MLANA melan-A 0.784755
INSRR insulin receptor-related receptor 0.783936
SLC2A1 solute carrier family 2 (facilitated glucose transporter), member 1 0.770027
MITF microphthalmia-associated transcription factor 0.753306
SEMA4F sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4F 0.742329
HAVCR1 hepatitis A virus cellular receptor 1 0.685891
ATAD5 ATPase family, AAA domain containing 5 0.679499
EVI2A ecotropic viral integration site 2A 0.670732
EVI2B ecotropic viral integration site 2B 0.650113
MDK midkine (neurite growth-promoting factor 2) 0.649718
NID1 nidogen 1 0.59913
MIB1 mindbomb E3 ubiquitin protein ligase 1 0.594454
GFAP glial fibrillary acidic protein 0.591337
PRKG2 protein kinase, cGMP-dependent, type II 0.581606
CDKN2B cyclin-dependent kinase inhibitor 2B (p15, inhibits CDK4) 0.568386
RARRES1 retinoic acid receptor responder (tazarotene induced) 1 0.549359
CDKN2A cyclin-dependent kinase inhibitor 2A 0.521888
KIT v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog 0.507657
MSH4 mutS homolog 4 0.494266
NGF nerve growth factor (beta polypeptide) 0.489311
ZHX2 zinc fingers and homeoboxes 2 0.488549
SST somatostatin 0.487407
KRTAP1-3 keratin associated protein 1-3 0.454847
KRTAP1-1 keratin associated protein 1-1 0.454847
CD68 CD68 molecule 0.454093
PAAF1 proteasomal ATPase-associated factor 1 0.452962
PRNT prion protein (testis specific) 0.436402
CALB2 calbindin 2 0.431519
LIMK2 LIM domain kinase 2 0.431144
TAP1 transporter 1, ATP-binding cassette, sub-family B (MDR/TAP) 0.42739
CREB3L2 cAMP responsive element binding protein 3-like 2 0.419892
NRG1 neuregulin 1 0.413901
CLEC2A C-type lectin domain family 2, member A 0.392629
S100A6 S100 calcium binding protein A6 0.389653
KDM6B lysine (K)-specific demethylase 6B 0.382594
ASIC2 acid sensing (proton gated) ion channel 2 0.377402
SMUG1 single-strand-selective monofunctional uracil-DNA glycosylase 1 0.369997
S100P S100 calcium binding protein P 0.36741
ILF3 interleukin enhancer binding factor 3, 90kDa 0.362609
SYP synaptophysin 0.361502
NUMBL numb homolog (Drosophila)-like 0.357814
FBXO42 F-box protein 42 0.357446
PDGFRA platelet-derived growth factor receptor, alpha polypeptide 0.357077
WISP2 WNT1 inducible signaling pathway protein 2 0.34384
FGF2 fibroblast growth factor 2 (basic) 0.340173
SPA17 sperm autoantigenic protein 17 0.336144
ANK3 ankyrin 3, node of Ranvier (ankyrin G) 0.332487
NNAT neuronatin 0.325187
BMP3 bone morphogenetic protein 3 0.324823
MBP myelin basic protein 0.322273
MXI1 MAX interactor 1, dimerization protein 0.320454
SOX10 SRY (sex determining region Y)-box 10 0.307757
GLI1 GLI family zinc finger 1 0.300894
DSP desmoplakin 0.296931
TPD52 tumor protein D52 0.296931
AP3B1 adaptor-related protein complex 3, beta 1 subunit 0.295132
S100A9 S100 calcium binding protein A9 0.293334
NEK2 NIMA-related kinase 2 0.29118
XRCC5 X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining) 0.290103
FN1 fibronectin 1 0.279724
SPRED1 sprouty-related, EVH1 domain containing 1 0.27687
SMARCB1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 0.257711
KRT3 keratin 3, type II 0.248203
NOV nephroblastoma overexpressed 0.243295
S100A1 S100 calcium binding protein A1 0.237357
RB1 retinoblastoma 1 0.23666
PDPN podoplanin 0.230755
WISP1 WNT1 inducible signaling pathway protein 1 0.220766
MB myoglobin 0.217012
MT3 metallothionein 3 0.214636
MTOR mechanistic target of rapamycin (serine/threonine kinase) 0.212608
PROS1 protein S (alpha) 0.210253
CNP 2',3'-cyclic nucleotide 3' phosphodiesterase 0.207578
AGO2 argonaute RISC catalytic component 2 0.205254
OMG oligodendrocyte myelin glycoprotein 0.203933
SHC2 SHC (Src homology 2 domain containing) transforming protein 2 0.201635
PTEN phosphatase and tensin homolog 0.200982
PPP3R1 protein phosphatase 3, regulatory subunit B, alpha 0.186811
SDHD succinate dehydrogenase complex, subunit D, integral membrane protein 0.185612
KITLG KIT ligand 0.184424
SOX9 SRY (sex determining region Y)-box 9 0.183835
DCD dermcidin 0.180367
PBK PDZ binding kinase 0.178682
ACOT7 acyl-CoA thioesterase 7 0.176757
SUZ12 SUZ12 polycomb repressive complex 2 subunit 0.169091
F8 coagulation factor VIII, procoagulant component 0.168854
MET MET proto-oncogene, receptor tyrosine kinase 0.167224
CUL1 cullin 1 0.165001
CXADR coxsackie virus and adenovirus receptor 0.161912
CKMT1A creatine kinase, mitochondrial 1A 0.161523
HRAS Harvey rat sarcoma viral oncogene homolog 0.159838
CKMT2 creatine kinase, mitochondrial 2 (sarcomeric) 0.158434
PDGFRB platelet-derived growth factor receptor, beta polypeptide 0.136301
FES FES proto-oncogene, tyrosine kinase 0.130775
FGR FGR proto-oncogene, Src family tyrosine kinase 0.130596
THRA thyroid hormone receptor, alpha 0.12951
ROS1 ROS proto-oncogene 1 , receptor tyrosine kinase 0.12609
DCK deoxycytidine kinase 0.123949
HLA-E major histocompatibility complex, class I, E 0.121694
BUB1B BUB1 mitotic checkpoint serine/threonine kinase B 0.120962
MYB v-myb avian myeloblastosis viral oncogene homolog 0.11747
MAG myelin associated glycoprotein 0.115057
CYR61 cysteine-rich, angiogenic inducer, 61 0.11208
PIDD1 p53-induced death domain protein 1 0.111066
FBN2 fibrillin 2 0.110822
CDC42 cell division cycle 42 0.109371
TNFRSF10B tumor necrosis factor receptor superfamily, member 10b 0.109047
FLT4 fms-related tyrosine kinase 4 0.108678
DAPK1 death-associated protein kinase 1 0.106403
PTPRC protein tyrosine phosphatase, receptor type, C 0.105776
ERBB3 erb-b2 receptor tyrosine kinase 3 0.103164
WDFY2 WD repeat and FYVE domain containing 2 0.100712
NRAS neuroblastoma RAS viral (v-ras) oncogene homolog 0.099284
PPY pancreatic polypeptide 0.098969