neurofibromatosis Gene Set

Dataset DISEASES Text-mining Gene-Disease Association Evidence Scores
Category disease or phenotype associations
Type disease
Description The presence of multiple cutaneous neurofibromas. (Human Phenotype Ontology, HP_0001067)
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Genes

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

Symbol Name Standardized Value
NF1 neurofibromin 1 4.73999
NF2 neurofibromin 2 (merlin) 3.56225
RASA1 RAS p21 protein activator (GTPase activating protein) 1 1.989
RDX radixin 1.91967
MSN moesin 1.84863
SPRED1 sprouty-related, EVH1 domain containing 1 1.68816
SDHB succinate dehydrogenase complex, subunit B, iron sulfur (Ip) 1.64756
EZR ezrin 1.63097
SDHD succinate dehydrogenase complex, subunit D, integral membrane protein 1.59742
NFIX nuclear factor I/X (CCAAT-binding transcription factor) 1.51853
NFIC nuclear factor I/C (CCAAT-binding transcription factor) 1.50272
SDHC succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa 1.46012
EPB41 erythrocyte membrane protein band 4.1 1.41972
EVI2A ecotropic viral integration site 2A 1.38559
OMG oligodendrocyte myelin glycoprotein 1.33327
EVI2B ecotropic viral integration site 2B 1.2765
RET ret proto-oncogene 1.26255
PGLS 6-phosphogluconolactonase 1.23863
TMEM127 transmembrane protein 127 1.22779
PDGFRA platelet-derived growth factor receptor, alpha polypeptide 1.22215
LRRC37B leucine rich repeat containing 37B 1.16949
HRAS Harvey rat sarcoma viral oncogene homolog 1.10343
TP53 tumor protein p53 1.08621
SDHAF2 succinate dehydrogenase complex assembly factor 2 1.05597
ZHX2 zinc fingers and homeoboxes 2 1.05009
MTOR mechanistic target of rapamycin (serine/threonine kinase) 1.03914
SLC1A7 solute carrier family 1 (glutamate transporter), member 7 1.01301
SDHA succinate dehydrogenase complex, subunit A, flavoprotein (Fp) 0.977165
SMARCB1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 0.960797
AKT1 v-akt murine thymoma viral oncogene homolog 1 0.944938
KIT v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog 0.942858
COPRS coordinator of PRMT5, differentiation stimulator 0.915963
SUZ12 SUZ12 polycomb repressive complex 2 subunit 0.908965
BLVRB biliverdin reductase B 0.905265
BEX5 brain expressed, X-linked 5 0.897872
SPRY1 sprouty homolog 1, antagonist of FGF signaling (Drosophila) 0.874509
PTPN11 protein tyrosine phosphatase, non-receptor type 11 0.868368
PTEN phosphatase and tensin homolog 0.85404
MLH1 mutL homolog 1 0.842573
NXPH3 neurexophilin 3 0.832738
CDC42 cell division cycle 42 0.796232
PMS2 PMS2 postmeiotic segregation increased 2 (S. cerevisiae) 0.787623
MEN1 multiple endocrine neoplasia I 0.787213
CRYBB2 crystallin, beta B2 0.785165
CD34 CD34 molecule 0.774932
MSH6 mutS homolog 6 0.758601
SLC9A3R1 solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 regulator 1 0.729762
PAK1 p21 protein (Cdc42/Rac)-activated kinase 1 0.723694
CDKN2A cyclin-dependent kinase inhibitor 2A 0.720865
PKN1 protein kinase N1 0.715215
SLC1A5 solute carrier family 1 (neutral amino acid transporter), member 5 0.710378
RAC1 ras-related C3 botulinum toxin substrate 1 (rho family, small GTP binding protein Rac1) 0.70233
NAT14 N-acetyltransferase 14 (GCN5-related, putative) 0.691495
LIMK2 LIM domain kinase 2 0.683493
RASL10B RAS-like, family 10, member B 0.677105
SGSM3 small G protein signaling modulator 3 0.676308
RAC3 ras-related C3 botulinum toxin substrate 3 (rho family, small GTP binding protein Rac3) 0.670333
FABP7 fatty acid binding protein 7, brain 0.670333
ADAP2 ArfGAP with dual PH domains 2 0.658026
TEFM transcription elongation factor, mitochondrial 0.653671
EGFR epidermal growth factor receptor 0.652484
CCDC85A coiled-coil domain containing 85A 0.651298
YAP1 Yes-associated protein 1 0.647743
HFM1 HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae) 0.64577
MSH2 mutS homolog 2 0.642615
TSC2 tuberous sclerosis 2 0.635528
SLIT3 slit homolog 3 (Drosophila) 0.631991
ASIC2 acid sensing (proton gated) ion channel 2 0.626103
MAP2K2 mitogen-activated protein kinase kinase 2 0.616703
IKBKG inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma 0.610838
SUPT6H suppressor of Ty 6 homolog (S. cerevisiae) 0.593285
UTP6 UTP6, small subunit (SSU) processome component, homolog (yeast) 0.58433
RAB11FIP4 RAB11 family interacting protein 4 (class II) 0.551298
BLMH bleomycin hydrolase 0.550522
KRAS Kirsten rat sarcoma viral oncogene homolog 0.550134
ATP6V0B ATPase, H+ transporting, lysosomal 21kDa, V0 subunit b 0.545481
ADCY2 adenylate cyclase 2 (brain) 0.544705
GFAP glial fibrillary acidic protein 0.54393
ERBB3 erb-b2 receptor tyrosine kinase 3 0.540442
COL22A1 collagen, type XXII, alpha 1 0.533088
WASF1 WAS protein family, member 1 0.531928
ENO2 enolase 2 (gamma, neuronal) 0.531154
MAP3K11 mitogen-activated protein kinase kinase kinase 11 0.529994
CBX1 chromobox homolog 1 0.526132
RIT1 Ras-like without CAAX 1 0.521502
MDK midkine (neurite growth-promoting factor 2) 0.507273
OLIG2 oligodendrocyte lineage transcription factor 2 0.504207
ELAVL2 ELAV like neuron-specific RNA binding protein 2 0.499231
NRAS neuroblastoma RAS viral (v-ras) oncogene homolog 0.497703
NES nestin 0.497321
NIPSNAP1 nipsnap homolog 1 (C. elegans) 0.495793
RGL2 ral guanine nucleotide dissociation stimulator-like 2 0.49274
LAYN layilin 0.480945
NGF nerve growth factor (beta polypeptide) 0.479427
DHH desert hedgehog 0.477151
RB1 retinoblastoma 1 0.473361
SST somatostatin 0.469954
CDKN2B cyclin-dependent kinase inhibitor 2B (p15, inhibits CDK4) 0.468063
KITLG KIT ligand 0.467684
RAC2 ras-related C3 botulinum toxin substrate 2 (rho family, small GTP binding protein Rac2) 0.465416
SMUG1 single-strand-selective monofunctional uracil-DNA glycosylase 1 0.463149
TTC28 tetratricopeptide repeat domain 28 0.462394
RASA2 RAS p21 protein activator 2 0.460129
PXN paxillin 0.455978
RALGDS ral guanine nucleotide dissociation stimulator 0.452208
IGKV1D-42 immunoglobulin kappa variable 1D-42 (non-functional) 0.451078
ARHGAP1 Rho GTPase activating protein 1 0.449571
PRKAR1A protein kinase, cAMP-dependent, regulatory, type I, alpha 0.448817
VPRBP Vpr (HIV-1) binding protein 0.448441
MAX MYC associated factor X 0.448064
LIMK1 LIM domain kinase 1 0.44129
KIAA1549 KIAA1549 0.435275
CRLF3 cytokine receptor-like factor 3 0.432646
PLEK pleckstrin 0.42814
WSB1 WD repeat and SOCS box containing 1 0.424389
CRTAC1 cartilage acidic protein 1 0.424014
FAF2 Fas associated factor family member 2 0.421016
POU3F1 POU class 3 homeobox 1 0.411657
CLDN1 claudin 1 0.410535
APOBEC3C apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3C 0.40904
NRG1 neuregulin 1 0.40904
DPYSL2 dihydropyrimidinase-like 2 0.407545
EGLN1 egl-9 family hypoxia-inducible factor 1 0.406051
TYRO3 TYRO3 protein tyrosine kinase 0.405678
GLI1 GLI family zinc finger 1 0.401572
PARK2 parkin RBR E3 ubiquitin protein ligase 0.399334
CLDN7 claudin 7 0.397098
SEMA4F sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4F 0.394491
CCND1 cyclin D1 0.392257
AK3 adenylate kinase 3 0.386308
ERBB2 erb-b2 receptor tyrosine kinase 2 0.382966
B3GAT1 beta-1,3-glucuronyltransferase 1 0.377031
STAM signal transducing adaptor molecule (SH3 domain and ITAM motif) 1 0.374438
RRAS related RAS viral (r-ras) oncogene homolog 0.364085
RICTOR RPTOR independent companion of MTOR, complex 2 0.363347
RNF135 ring finger protein 135 0.362239
RHEB Ras homolog enriched in brain 0.361133
VHL von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase 0.360026
ADGRB3 adhesion G protein-coupled receptor B3 0.359657
NEFH neurofilament, heavy polypeptide 0.359289
PDGFRL platelet-derived growth factor receptor-like 0.35892
CD44 CD44 molecule (Indian blood group) 0.358183
PITPNB phosphatidylinositol transfer protein, beta 0.357814
ELAVL1 ELAV like RNA binding protein 1 0.348246
APIP APAF1 interacting protein 0.347144
SLK STE20-like kinase 0.345675
RPRM reprimo, TP53 dependent G2 arrest mediator candidate 0.344574
RASD1 RAS, dexamethasone-induced 1 0.336144
SHOC2 soc-2 suppressor of clear homolog (C. elegans) 0.332852
RANBP9 RAN binding protein 9 0.331391
GAP43 growth associated protein 43 0.32701
DPH2 DPH2 homolog (S. cerevisiae) 0.321909
LATS2 large tumor suppressor kinase 2 0.314278
SOX10 SRY (sex determining region Y)-box 10 0.313552
MEOX1 mesenchyme homeobox 1 0.312102
ATAD5 ATPase family, AAA domain containing 5 0.304503
PTCH2 patched 2 0.303781
TSC1 tuberous sclerosis 1 0.301976
SOX9 SRY (sex determining region Y)-box 9 0.301615
SEMA3F sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3F 0.298731
RNF7 ring finger protein 7 0.290103
S100A5 S100 calcium binding protein A5 0.277227
HAVCR2 hepatitis A virus cellular receptor 2 0.276514
SNX1 sorting nexin 1 0.271886
METAP2 methionyl aminopeptidase 2 0.270108
CYP4F22 cytochrome P450, family 4, subfamily F, polypeptide 22 0.266558
HMMR hyaluronan-mediated motility receptor (RHAMM) 0.25983
IGF1R insulin-like growth factor 1 receptor 0.254536
CA8 carbonic anhydrase VIII 0.250663
TEAD4 TEA domain family member 4 0.24996
ANO1 anoctamin 1, calcium activated chloride channel 0.249257
PTER phosphotriesterase related 0.24715
MAP2K1 mitogen-activated protein kinase kinase 1 0.245747
NGFR nerve growth factor receptor 0.245396
CPD carboxypeptidase D 0.241196
NMUR2 neuromedin U receptor 2 0.235268
MATN2 matrilin 2 0.22937
NLK nemo-like kinase 0.225229
TOP2A topoisomerase (DNA) II alpha 170kDa 0.222822
CNNM4 cyclin and CBS domain divalent metal cation transport mediator 4 0.220081
NFATC4 nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4 0.215992
PPP1R14A protein phosphatase 1, regulatory (inhibitor) subunit 14A 0.215992
ARHGAP26 Rho GTPase activating protein 26 0.214636
FAXDC2 fatty acid hydroxylase domain containing 2 0.214636
RAB40AL RAB40A, member RAS oncogene family-like 0.210925
SIK2 salt-inducible kinase 2 0.204923
RALA v-ral simian leukemia viral oncogene homolog A (ras related) 0.203933
EYA2 EYA transcriptional coactivator and phosphatase 2 0.203604
SYT7 synaptotagmin VII 0.202618
KRT83 keratin 83, type II 0.201962
MPZ myelin protein zero 0.198709
MLANA melan-A 0.198386
TYR tyrosinase 0.198064
BNIP2 BCL2/adenovirus E1B 19kDa interacting protein 2 0.19742
MIR10B microRNA 10b 0.197099
CHGA chromogranin A 0.196779
CALCA calcitonin-related polypeptide alpha 0.195183
PPP1R12A protein phosphatase 1, regulatory subunit 12A 0.193915
PDGFB platelet-derived growth factor beta polypeptide 0.191719
MIB1 mindbomb E3 ubiquitin protein ligase 1 0.191719
MITF microphthalmia-associated transcription factor 0.189244
WWC1 WW and C2 domain containing 1 0.181798
CRYBB3 crystallin, beta B3 0.180652
CUL1 cullin 1 0.180367
UNC119 unc-119 homolog (C. elegans) 0.17952
HGS hepatocyte growth factor-regulated tyrosine kinase substrate 0.178126
NBR1 neighbor of BRCA1 gene 1 0.175679
FOS FBJ murine osteosarcoma viral oncogene homolog 0.166995
NEXN nexilin (F actin binding protein) 0.166768
MBNL2 muscleblind-like splicing regulator 2 0.166544
STRADA STE20-related kinase adaptor alpha 0.165435
SOS1 son of sevenless homolog 1 (Drosophila) 0.165001
SAV1 salvador family WW domain containing protein 1 0.162505
SRC SRC proto-oncogene, non-receptor tyrosine kinase 0.162109
TP53AIP1 tumor protein p53 regulated apoptosis inducing protein 1 0.161523
BEST3 bestrophin 3 0.160574
MLST8 MTOR associated protein, LST8 homolog (S. cerevisiae) 0.160387
EREG epiregulin 0.160021
KIF1B kinesin family member 1B 0.159124
RRAS2 related RAS viral (r-ras) oncogene homolog 2 0.158434
PDGFRB platelet-derived growth factor receptor, beta polypeptide 0.158266