Neurofibromatosis Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
External Link https://www.disgenet.org/browser/0/1/0/C0677781
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Genes

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

Symbol Name
ACKR3 atypical chemokine receptor 3
ACTB actin, beta
ADAP2 ArfGAP with dual PH domains 2
ADCY8 adenylate cyclase 8 (brain)
ADM adrenomedullin
AGO2 argonaute RISC catalytic component 2
AJUBA ajuba LIM protein
AKT1 v-akt murine thymoma viral oncogene homolog 1
ALDH1L1 aldehyde dehydrogenase 1 family, member L1
ALK anaplastic lymphoma receptor tyrosine kinase
AMOT angiomotin
AMPD1 adenosine monophosphate deaminase 1
ANPEP alanyl (membrane) aminopeptidase
APOB apolipoprotein B
APOBEC1 apolipoprotein B mRNA editing enzyme, catalytic polypeptide 1
APP amyloid beta (A4) precursor protein
APRT adenine phosphoribosyltransferase
AR androgen receptor
AREG amphiregulin
ASIC2 acid sensing (proton gated) ion channel 2
ATAD5 ATPase family, AAA domain containing 5
ATM ATM serine/threonine kinase
ATN1 atrophin 1
ATRX alpha thalassemia/mental retardation syndrome X-linked
AURKA aurora kinase A
BAP1 BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)
BCL11A B-cell CLL/lymphoma 11A (zinc finger protein)
BCL2 B-cell CLL/lymphoma 2
BCR breakpoint cluster region
BIN2 bridging integrator 2
BIRC5 baculoviral IAP repeat containing 5
BLVRB biliverdin reductase B
BMP2 bone morphogenetic protein 2
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
CABIN1 calcineurin binding protein 1
CADM1 cell adhesion molecule 1
CALM1 calmodulin 1 (phosphorylase kinase, delta)
CALM2 calmodulin 2 (phosphorylase kinase, delta)
CALM3 calmodulin 3 (phosphorylase kinase, delta)
CAMP cathelicidin antimicrobial peptide
CAPN5 calpain 5
CCL5 chemokine (C-C motif) ligand 5
CCN1 cellular communication network factor 1
CCN2 cellular communication network factor 2
CCND1 cyclin D1
CD14 CD14 molecule
CD19 CD19 molecule
CD274 CD274 molecule
CD38 CD38 molecule
CD44 CD44 molecule (Indian blood group)
CDC42 cell division cycle 42
CDK4 cyclin-dependent kinase 4
CDKN1B cyclin-dependent kinase inhibitor 1B (p27, Kip1)
CDKN2A cyclin-dependent kinase inhibitor 2A
CEBPD CCAAT/enhancer binding protein (C/EBP), delta
CEL carboxyl ester lipase
CELF1 CUGBP, Elav-like family member 1
CFTR cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)
CGA glycoprotein hormones, alpha polypeptide
CHEK2 checkpoint kinase 2
CHPT1 choline phosphotransferase 1
CIB1 calcium and integrin binding 1 (calmyrin)
CIC capicua transcriptional repressor
CITED2 Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2
CNNM4 cyclin and CBS domain divalent metal cation transport mediator 4
CNTN2 contactin 2 (axonal)
COQ6 coenzyme Q6 monooxygenase
COX2
COX8A cytochrome c oxidase subunit VIIIA (ubiquitous)
CRABP2 cellular retinoic acid binding protein 2
CREB1 cAMP responsive element binding protein 1
CRTAC1 cartilage acidic protein 1
CRYBA1 crystallin, beta A1
CRYBB2 crystallin, beta B2
CRYBB3 crystallin, beta B3
CSF3 colony stimulating factor 3 (granulocyte)
CTNNB1 catenin (cadherin-associated protein), beta 1, 88kDa
CXCL10 chemokine (C-X-C motif) ligand 10
CXCL12 chemokine (C-X-C motif) ligand 12
CXCR4 chemokine (C-X-C motif) receptor 4
CYP19A1 cytochrome P450, family 19, subfamily A, polypeptide 1
DACH1 dachshund family transcription factor 1
DCAF1 DDB1 and CUL4 associated factor 1
DHDDS dehydrodolichyl diphosphate synthase
DIAPH2 diaphanous-related formin 2
DNAJB7 DnaJ (Hsp40) homolog, subfamily B, member 7
DNER delta/notch-like EGF repeat containing
DNMT1 DNA (cytosine-5-)-methyltransferase 1
DNMT3A DNA (cytosine-5-)-methyltransferase 3 alpha
DPYSL2 dihydropyrimidinase-like 2
DUSP1 dual specificity phosphatase 1
DUSP6 dual specificity phosphatase 6
DUX4 double homeobox 4
EED embryonic ectoderm development
EGF epidermal growth factor
EGFR epidermal growth factor receptor
EIF3C eukaryotic translation initiation factor 3, subunit C
EIF4EBP1 eukaryotic translation initiation factor 4E binding protein 1
ELF4 E74-like factor 4 (ets domain transcription factor)
ELK3 ELK3, ETS-domain protein (SRF accessory protein 2)
ENG endoglin
ENO2 enolase 2 (gamma, neuronal)
EPAS1 endothelial PAS domain protein 1
EPB41L3 erythrocyte membrane protein band 4.1-like 3
EPCAM epithelial cell adhesion molecule
EPHA1 EPH receptor A1
EPHB1 EPH receptor B1
EPHB2 EPH receptor B2
EPO erythropoietin
ERBB2 erb-b2 receptor tyrosine kinase 2
ERBB4 erb-b2 receptor tyrosine kinase 4
EREG epiregulin
ESCO1 establishment of sister chromatid cohesion N-acetyltransferase 1
ESR1 estrogen receptor 1
ETV5 ets variant 5
EVI2A ecotropic viral integration site 2A
EVI2B ecotropic viral integration site 2B
EZR ezrin
FAP fibroblast activation protein, alpha
FASN fatty acid synthase
FBLIM1 filamin binding LIM protein 1
FBXW7 F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase
FGF23 fibroblast growth factor 23
FGFR1 fibroblast growth factor receptor 1
FH fumarate hydratase
FHDC1 FH2 domain containing 1
FLT1 fms-related tyrosine kinase 1
FMR1 fragile X mental retardation 1
FN1 fibronectin 1
FOLH1 folate hydrolase (prostate-specific membrane antigen) 1
FOXG1 forkhead box G1
G6PD glucose-6-phosphate dehydrogenase
GC group-specific component (vitamin D binding protein)
GDNF glial cell derived neurotrophic factor
GFAP glial fibrillary acidic protein
GH1 growth hormone 1
GHR growth hormone receptor
GHSR growth hormone secretagogue receptor
GLI1 GLI family zinc finger 1
GNA12 guanine nucleotide binding protein (G protein) alpha 12
GNRH1 gonadotropin-releasing hormone 1 (luteinizing-releasing hormone)
GOPC golgi-associated PDZ and coiled-coil motif containing
GRN granulin
GSTP1 glutathione S-transferase pi 1
HAND1 heart and neural crest derivatives expressed 1
HARS1 histidyl-tRNA synthetase 1
HGF hepatocyte growth factor (hepapoietin A; scatter factor)
HGS hepatocyte growth factor-regulated tyrosine kinase substrate
HIPK2 homeodomain interacting protein kinase 2
HOXB1 homeobox B1
HOXB2 homeobox B2
HOXB3 homeobox B3
HOXB4 homeobox B4
HOXB5 homeobox B5
HOXB6 homeobox B6
HOXB7 homeobox B7
HOXB8 homeobox B8
HOXB9 homeobox B9
HRAS Harvey rat sarcoma viral oncogene homolog
HSD17B6 hydroxysteroid (17-beta) dehydrogenase 6
HSF1 heat shock transcription factor 1
IDH1 isocitrate dehydrogenase 1 (NADP+), soluble
IDH2 isocitrate dehydrogenase 2 (NADP+), mitochondrial
IGF1R insulin-like growth factor 1 receptor
IGLL5 immunoglobulin lambda-like polypeptide 5
IKBKG inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma
IL10 interleukin 10
IL17RA interleukin 17 receptor A
IL1B interleukin 1, beta
IMMT inner membrane protein, mitochondrial
INSL4 insulin-like 4 (placenta)
IQGAP1 IQ motif containing GTPase activating protein 1
JAK2 Janus kinase 2
KDR kinase insert domain receptor
KIAA1549 KIAA1549
KIR2DL5A killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 5A
KIR2DL5B killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 5B
KIT v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
KITLG KIT ligand
KMT2C lysine (K)-specific methyltransferase 2C
KMT2D lysine (K)-specific methyltransferase 2D
KRAS Kirsten rat sarcoma viral oncogene homolog
LATS2 large tumor suppressor kinase 2
LBR lamin B receptor
LGALS1 lectin, galactoside-binding, soluble, 1
LIF leukemia inhibitory factor
LIMK1 LIM domain kinase 1
LIMK2 LIM domain kinase 2
LRP6 low density lipoprotein receptor-related protein 6
LRRC37A leucine rich repeat containing 37A
LRRC37A2 leucine rich repeat containing 37, member A2
LRRC37A3 leucine rich repeat containing 37, member A3
LRRC37B leucine rich repeat containing 37B
LSM2 LSM2 homolog, U6 small nuclear RNA associated (S. cerevisiae)
LZTR1 leucine-zipper-like transcription regulator 1
MAF v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog
MAGEB2 melanoma antigen family B2
MAP2K1 mitogen-activated protein kinase kinase 1
MAP2K2 mitogen-activated protein kinase kinase 2
MAP2K7 mitogen-activated protein kinase kinase 7
MAP3K14 mitogen-activated protein kinase kinase kinase 14
MAPK1 mitogen-activated protein kinase 1
MAPK3 mitogen-activated protein kinase 3
MAPK8 mitogen-activated protein kinase 8
MATN2 matrilin 2
MCAM melanoma cell adhesion molecule
MDK midkine (neurite growth-promoting factor 2)
MDM2 MDM2 proto-oncogene, E3 ubiquitin protein ligase
MEFV Mediterranean fever
MEN1 multiple endocrine neoplasia I
METAP2 methionyl aminopeptidase 2
MEX3D mex-3 RNA binding family member D
MFAP1 microfibrillar-associated protein 1
MGMT O-6-methylguanine-DNA methyltransferase
MIB1 mindbomb E3 ubiquitin protein ligase 1
MKI67 marker of proliferation Ki-67
MLH1 mutL homolog 1
MMP13 matrix metallopeptidase 13
MMP8 matrix metallopeptidase 8
MN1 meningioma (disrupted in balanced translocation) 1
MORC2 MORC family CW-type zinc finger 2
MPZ myelin protein zero
MRC1 mannose receptor, C type 1
MRVI1 murine retrovirus integration site 1 homolog
MSC musculin
MSH2 mutS homolog 2
MSH6 mutS homolog 6
MSN moesin
MTAP methylthioadenosine phosphorylase
MTOR mechanistic target of rapamycin (serine/threonine kinase)
MXD1 MAX dimerization protein 1
MYH2 myosin, heavy chain 2, skeletal muscle, adult
NEDD8 neural precursor cell expressed, developmentally down-regulated 8
NEFH neurofilament, heavy polypeptide
NF1 neurofibromin 1
NF2 neurofibromin 2 (merlin)
NFIA nuclear factor I/A
NFIB nuclear factor I/B
NFIC nuclear factor I/C (CCAAT-binding transcription factor)
NFIX nuclear factor I/X (CCAAT-binding transcription factor)
NGF nerve growth factor (beta polypeptide)
NGFR nerve growth factor receptor
NHS Nance-Horan syndrome (congenital cataracts and dental anomalies)
NME1 NME/NM23 nucleoside diphosphate kinase 1
NMS neuromedin S
NOV nephroblastoma overexpressed
NPR3 natriuretic peptide receptor 3
NRAS neuroblastoma RAS viral (v-ras) oncogene homolog
NTRK3 neurotrophic tyrosine kinase, receptor, type 3
OLIG2 oligodendrocyte lineage transcription factor 2
OMG oligodendrocyte myelin glycoprotein
PAK1 p21 protein (Cdc42/Rac)-activated kinase 1
PAX6 paired box 6
PAX7 paired box 7
PDGFRA platelet-derived growth factor receptor, alpha polypeptide
PDLIM5 PDZ and LIM domain 5
PEBP1 phosphatidylethanolamine binding protein 1
PGD phosphogluconate dehydrogenase
PGF placental growth factor
PGR progesterone receptor
PICALM phosphatidylinositol binding clathrin assembly protein
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
PKD1 polycystic kidney disease 1 (autosomal dominant)
PLAT plasminogen activator, tissue
PLG plasminogen
PMP22 peripheral myelin protein 22
PMS2 PMS2 postmeiotic segregation increased 2 (S. cerevisiae)
PNMT phenylethanolamine N-methyltransferase
POMC proopiomelanocortin
POSTN periostin, osteoblast specific factor
PRKAR1A protein kinase, cAMP-dependent, regulatory, type I, alpha
PROM1 prominin 1
PRPF31 pre-mRNA processing factor 31
PTCH1 patched 1
PTEN phosphatase and tensin homolog
PTGDS prostaglandin D2 synthase 21kDa (brain)
PTGS2 prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)
PTN pleiotrophin
PTPA protein phosphatase 2 phosphatase activator
PTPN11 protein tyrosine phosphatase, non-receptor type 11
PTPRC protein tyrosine phosphatase, receptor type, C
PTPRJ protein tyrosine phosphatase, receptor type, J
PXN paxillin
RAC1 ras-related C3 botulinum toxin substrate 1 (rho family, small GTP binding protein Rac1)
RAF1 Raf-1 proto-oncogene, serine/threonine kinase
RASA1 RAS p21 protein activator (GTPase activating protein) 1
RASA2 RAS p21 protein activator 2
RASSF1 Ras association (RalGDS/AF-6) domain family member 1
RDX radixin
RET ret proto-oncogene
RGS6 regulator of G-protein signaling 6
RHEB Ras homolog enriched in brain
RNF135 ring finger protein 135
RNF213 ring finger protein 213
RNMT RNA (guanine-7-) methyltransferase
RPS6KA1 ribosomal protein S6 kinase, 90kDa, polypeptide 1
RPS6KB1 ribosomal protein S6 kinase, 70kDa, polypeptide 1
RPTOR regulatory associated protein of MTOR, complex 1
RUNX1 runt-related transcription factor 1
RYR1 ryanodine receptor 1 (skeletal)
S100A1 S100 calcium binding protein A1
S100B S100 calcium binding protein B
SARDH sarcosine dehydrogenase
SAV1 salvador family WW domain containing protein 1
SCN5A sodium channel, voltage gated, type V alpha subunit
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
SEMA3F sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3F
SERPINE1 serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1
SERPINF2 serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 2
SGK1 serum/glucocorticoid regulated kinase 1
SGSM3 small G protein signaling modulator 3
SH3BP2 SH3-domain binding protein 2
SHANK3 SH3 and multiple ankyrin repeat domains 3
SHROOM2 shroom family member 2
SIRT2 sirtuin 2
SKI SKI proto-oncogene
SLC17A6 solute carrier family 17 (vesicular glutamate transporter), member 6
SLC5A8 solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8
SLC6A2 solute carrier family 6 (neurotransmitter transporter), member 2
SLC6A4 solute carrier family 6 (neurotransmitter transporter), member 4
SMAD1 SMAD family member 1
SMAD4 SMAD family member 4
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
SMARCE1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1
SMS spermine synthase
SMUG1 single-strand-selective monofunctional uracil-DNA glycosylase 1
SNAP91 synaptosomal-associated protein, 91kDa
SOCS2 suppressor of cytokine signaling 2
SORD sorbitol dehydrogenase
SOS1 son of sevenless homolog 1 (Drosophila)
SOX10 SRY (sex determining region Y)-box 10
SOX9 SRY (sex determining region Y)-box 9
SPP1 secreted phosphoprotein 1
SPRED1 sprouty-related, EVH1 domain containing 1
SPRY1 sprouty homolog 1, antagonist of FGF signaling (Drosophila)
SRC SRC proto-oncogene, non-receptor tyrosine kinase
SRSF5 serine/arginine-rich splicing factor 5
SRY sex determining region Y
SST somatostatin
STAT3 signal transducer and activator of transcription 3 (acute-phase response factor)
SUZ12 SUZ12 polycomb repressive complex 2 subunit
SYK spleen tyrosine kinase
TAZ tafazzin
TBL1XR1 transducin (beta)-like 1 X-linked receptor 1
TBX1 T-box 1
TCHP trichoplein, keratin filament binding
TCP1 t-complex 1
TEAD2 TEA domain family member 2
TERT telomerase reverse transcriptase
TFPI tissue factor pathway inhibitor (lipoprotein-associated coagulation inhibitor)
TG thyroglobulin
TGFB1 transforming growth factor, beta 1
THRA thyroid hormone receptor, alpha
THSD7A thrombospondin, type I, domain containing 7A
THY1 Thy-1 cell surface antigen
TIA1 TIA1 cytotoxic granule-associated RNA binding protein
TIAL1 TIA1 cytotoxic granule-associated RNA binding protein-like 1
TIMP3 TIMP metallopeptidase inhibitor 3
TLK2 tousled-like kinase 2
TMEM206 transmembrane protein 206
TNC tenascin C
TNF tumor necrosis factor
TNFRSF11B tumor necrosis factor receptor superfamily, member 11b
TNXB tenascin XB
TOP1 topoisomerase (DNA) I
TOP2A topoisomerase (DNA) II alpha 170kDa
TP53 tumor protein p53
TPT1 tumor protein, translationally-controlled 1
TSC2 tuberous sclerosis 2
TTN titin
TYK2 tyrosine kinase 2
UBD ubiquitin D
USF1 upstream transcription factor 1
UTP6 UTP6, small subunit (SSU) processome component, homolog (yeast)
VARS valyl-tRNA synthetase
VCP valosin containing protein
VDR vitamin D (1,25- dihydroxyvitamin D3) receptor
VEGFA vascular endothelial growth factor A
VEGFB vascular endothelial growth factor B
VHL von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase
VTN vitronectin
WASF1 WAS protein family, member 1
WISP2 WNT1 inducible signaling pathway protein 2
WWC1 WW and C2 domain containing 1
YAP1 Yes-associated protein 1
ZHX2 zinc fingers and homeoboxes 2
ZMYM2 zinc finger, MYM-type 2