MCID: NRF007
MIFTS: 53

Neurofibroma malady

Categories: Rare diseases, Neuronal diseases, Cancer diseases

Aliases & Classifications for Neurofibroma

Aliases & Descriptions for Neurofibroma:

Name: Neurofibroma 12 50 56 29 52 42 14 69

Classifications:

Orphanet: 56  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:962
MeSH 42 D009455
NCIt 47 C3272
Orphanet 56 ORPHA252183
UMLS via Orphanet 70 C0027830
UMLS 69 C0027830

Summaries for Neurofibroma

NIH Rare Diseases : 50 a neurofibroma is a non-cancerous (benign) tumor that develops from the cells and tissues that cover nerves. some people who develop neurofibromas have a genetic condition known as neurofibromatosis (nf). there are different types of nf, but type 1 is the most common. last updated: 7/20/2015

MalaCards based summary : Neurofibroma is related to watson syndrome and myxopapillary ependymoma, and has symptoms including back pain, headache and pain. An important gene associated with Neurofibroma is NF1 (Neurofibromin 1), and among its related pathways/superpathways are Neuroscience and Glioblastoma Multiforme. The drugs Dopamine and Methylphenidate have been mentioned in the context of this disorder. Affiliated tissues include bone, tongue and skin, and related phenotypes are integument and neoplasm

Wikipedia : 71 A neurofibroma is a benign nerve sheath tumor in the peripheral nervous system. In 90% of cases they\'re... more...

Related Diseases for Neurofibroma

Diseases related to Neurofibroma via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 268)
id Related Disease Score Top Affiliating Genes
1 watson syndrome 31.9 NF1 NF2
2 myxopapillary ependymoma 29.5 NF2 SYP
3 glomus tumor 29.3 MITF SYP
4 gastrointestinal stromal tumor 28.9 CD34 CDKN2A KITLG NF1 S100B SYP
5 plexiform neurofibroma 12.1
6 cellular neurofibroma 11.9
7 atypical neurofibroma 11.9
8 neurofibroma of the heart 11.9
9 neurofibroma of the esophagus 11.8
10 epithelioid neurofibroma 11.8
11 painful orbital and systemic neurofibromas-marfanoid habitus syndrome 11.8
12 neurofibroma of gallbladder 11.7
13 mediastinum neurofibroma 11.7
14 neurofibroma of spinal cord 11.7
15 malignant peripheral nerve sheath tumor 11.3
16 neurofibromatosis, type 1 11.2
17 legius syndrome 10.9
18 chromosome 17q11.2 deletion syndrome, 1.4-mb 10.8
19 intraneural perineurioma 10.8
20 pacinian tumor 10.7
21 neurofibromatosis 10.5
22 cavernous hemangioma of colon 10.3 CD34 NF2
23 pleuropneumonia 10.3 CD34 CDKN2A
24 demyelinating disease 10.3 CD34 NF2
25 lateral medullary syndrome 10.3 NF1 NF2
26 intrahepatic bile duct cystadenoma 10.3 NF1 S100B
27 spinal meninges cancer 10.3 CD34 NF2
28 diffuse pulmonary fibrosis 10.3 CDKN2A NF2
29 anorectal stricture 10.3 NF1 NF2
30 postgastrectomy syndrome 10.3 NF1 SYP
31 epilepsy, familial focal, with variable foci 10.2 NF1 NF2
32 jejunal somatostatinoma 10.2 CD34 NF1 NF2
33 jejunal neuroendocrine tumor 10.2 S100B SYP
34 ritscher-schinzel syndrome 1 10.2 CD34 F13A1
35 central neurocytoma 10.2 NF1 SYP
36 typical urticaria pigmentosa 10.2 F13A1 S100B
37 hypoparathyroidism-intellectual disability-dysmorphism syndrome 10.2 S100B SYP
38 adenofibroma 10.2 S100B SYP
39 pleomorphic xanthoastrocytoma 10.2 NF2 SYP
40 monkeypox 10.2 S100B SYP
41 c-p angle neurinoma 10.2 NF1 NF2 S100B
42 breast mucoepidermoid carcinoma 10.2 CD34 SYP
43 movement disease 10.2 S100B SYP
44 early-onset parkinson disease 10.2 S100B SYP
45 bone deterioration disease 10.2 S100B SYP
46 paraphimosis 10.2 CDKN2A SYP
47 cavernous sinus meningioma 10.2 F13A1 S100B
48 leukoencephalopathy palmoplantar keratoderma 10.2 MITF S100B
49 verrucous papilloma 10.2 MITF NF1
50 hypogonadotropic hypogonadism-retinitis pigmentosa syndrome 10.2 S100B SYP

Graphical network of the top 20 diseases related to Neurofibroma:



Diseases related to Neurofibroma

Symptoms & Phenotypes for Neurofibroma

UMLS symptoms related to Neurofibroma:


back pain, headache, pain, sciatica, seizures, syncope, tremor, chronic pain, vertigo/dizziness, sleeplessness

MGI Mouse Phenotypes related to Neurofibroma:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 integument MP:0010771 9.7 CD34 CDKN2A KITLG MITF NF1 NF2
2 neoplasm MP:0002006 9.35 CD34 CDKN2A KITLG NF1 NF2
3 pigmentation MP:0001186 8.92 CDKN2A KITLG MITF NF1

Drugs & Therapeutics for Neurofibroma

Drugs for Neurofibroma (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 202)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dopamine Approved Phase 4 51-61-6, 62-31-7 681
2
Methylphenidate Approved, Investigational Phase 4 113-45-1 4158
3
Bupivacaine Approved, Investigational Phase 4 2180-92-9, 38396-39-3 2474
4
Triamcinolone Approved, Vet_approved Phase 4 124-94-7 31307
5
Mepivacaine Approved, Vet_approved Phase 4 96-88-8 4062
6 Anesthetics Phase 4,Phase 1,Early Phase 1
7 Peripheral Nervous System Agents Phase 4,Phase 2,Phase 1,Early Phase 1
8 Anesthetics, Local Phase 4,Phase 1,Early Phase 1
9 Anti-Bacterial Agents Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
10 Anti-Infective Agents Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
11 Central Nervous System Depressants Phase 4,Phase 1,Early Phase 1
12 Neurotransmitter Agents Phase 4,Phase 2,Phase 3
13 Gentamicins Phase 4
14 Neurotransmitter Uptake Inhibitors Phase 4
15 Dopamine Agents Phase 4
16 Dopamine Uptake Inhibitors Phase 4
17 Immunosuppressive Agents Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
18 Anti-Inflammatory Agents Phase 4,Phase 2,Phase 1
19 Central Nervous System Stimulants Phase 4
20 triamcinolone acetonide Phase 4
21 glucocorticoids Phase 4
22 Hormone Antagonists Phase 4
23 Triamcinolone diacetate Phase 4
24 Triamcinolone hexacetonide Phase 4
25 Hormones Phase 4
26 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4
27
Doxorubicin Approved, Investigational Phase 3,Phase 2,Phase 1 23214-92-8 31703
28
Ifosfamide Approved Phase 3,Phase 2 3778-73-2 3690
29
Mechlorethamine Approved Phase 3,Phase 2 51-75-2 4033
30
Etoposide Approved Phase 3,Phase 2 33419-42-0 36462
31
Dacarbazine Approved, Investigational Phase 3,Phase 2,Phase 1 4342-03-4 5351166
32
Lamotrigine Approved, Investigational Phase 2, Phase 3 84057-84-1 3878
33
Cyclophosphamide Approved, Investigational Phase 2, Phase 3 50-18-0, 6055-19-2 2907
34
Gemcitabine Approved Phase 3,Phase 2,Phase 1 95058-81-4 60750
35
Chlorhexidine Approved, Vet_approved Phase 2, Phase 3 55-56-1 9552079 2713
36
Epirubicin Approved Phase 3 56420-45-2 41867
37
Trabectedin Approved, Investigational Phase 3 114899-77-3 108150
38
Doxil Approved June 1999 Phase 3,Phase 2,Phase 1 31703
39
Docetaxel Approved May 1996, Investigational Phase 3,Phase 1,Phase 2 114977-28-5 148124 9877265
40 Alkylating Agents Phase 3,Phase 2,Phase 1
41 Sodium Channel Blockers Phase 2, Phase 3,Phase 1,Early Phase 1
42 Topoisomerase Inhibitors Phase 3,Phase 2,Phase 1
43 Diuretics, Potassium Sparing Phase 2, Phase 3,Phase 1,Early Phase 1
44 Protein Kinase Inhibitors Phase 2, Phase 3,Phase 1,Early Phase 1
45 Isophosphamide mustard Phase 3,Phase 2
46 Antibiotics, Antitubercular Phase 3,Phase 2,Phase 1,Early Phase 1
47 Antineoplastic Agents, Alkylating Phase 3,Phase 2,Phase 1
48 Imatinib Mesylate Phase 2, Phase 3,Phase 1 123596
49 Etoposide phosphate Phase 3,Phase 2
50 Antimetabolites Phase 3,Phase 2,Phase 1

Interventional clinical trials:

(show top 50) (show all 216)
id Name Status NCT ID Phase
1 NF1-Attention: Study of Children With Neurofibromatosis Type 1 Treated by Methylphenidate Completed NCT00169611 Phase 4
2 Pathophysiology of Post Amputation Pain Completed NCT01632709 Phase 4
3 Blind and Ultrasound Guided Injection in Morton Neuroma Recruiting NCT03046108 Phase 4
4 Gentamicin Treatment Prior to Schwannoma Surgery - No Residual Function Recruiting NCT02415257 Phase 4
5 Gentamicin Treatment Prior to Schwannoma Surgery - Residual Function Recruiting NCT02379754 Phase 4
6 First Clinical Study of Erbium - Yttrium Aluminium Garnet (YAG) Laser Vaporization of Cutaneous Neurofibromas Unknown status NCT00921037 Phase 2, Phase 3
7 Observation, Radiation Therapy, Combination Chemotherapy, and/or Surgery in Treating Young Patients With Soft Tissue Sarcoma Unknown status NCT00346164 Phase 3
8 Stereotactic Radiation in Vestibular Schwannoma Unknown status NCT01449604 Phase 3
9 Acceptance and Commitment Training for Adolescents and Young Adults With Neurofibromatosis Type 1, Plexiform Neurofibromas, and Chronic Pain Recruiting NCT02471339 Phase 3
10 Effect of Lamotrigine on Cognition in NF1 Recruiting NCT02256124 Phase 2, Phase 3
11 Localized High-Risk Soft Tissue Sarcomas Of The Extremities And Trunk Wall In Adults: An Integrating Approach Comprising Standard Vs Histotype-Tailored Neoadjuvant Chemotherapy Recruiting NCT01710176 Phase 3
12 Radiation Therapy With or Without Combination Chemotherapy or Pazopanib Hydrochloride Before Surgery in Treating Patients With Newly Diagnosed Non-Rhabdomyosarcoma Soft Tissue Sarcomas That Can Be Removed by Surgery Recruiting NCT02180867 Phase 2, Phase 3
13 Cyberknife Radiosurgery for Patients With Neurinomas Recruiting NCT02055859 Phase 3
14 Vestibular Schwannoma - Radiosurgery or Expectation: V-REX. Recruiting NCT02249572 Phase 2, Phase 3
15 Imatinib Mesylate Treatment of Patients With Malignant Peripheral Nerve Sheath Tumors Terminated NCT00427583 Phase 2, Phase 3
16 A Phase II Study of the mTOR Inhibitor Sirolimus in Neurofibromatosis Type 1 Related Plexiform Neurofibromas Completed NCT00634270 Phase 2
17 Combination Chemotherapy in Treating Patients With Neurofibromatosis and Progressive Plexiform Neurofibromas Completed NCT00030264 Phase 2
18 Study of PEG-Intron for Plexiform Neurofibromas Completed NCT00396019 Phase 2
19 Pirfenidone in Children and Young Adults With Neurofibromatosis Type I and Progressive Plexiform Neurofibromas Completed NCT00076102 Phase 2
20 R115777 to Treat Children With Neurofibromatosis Type 1 and Progressive Plexiform Neurofibromas Completed NCT00021541 Phase 2
21 Use of RAD001 as Monotherapy in the Treatment of Neurofibromatosis 1 Related Internal Plexiform Neurofibromas Completed NCT01412892 Phase 2
22 Clinical Trial of Pirfenidone in Adult Patients With Neurofibromatosis 1 Completed NCT00754780 Phase 2
23 Phase II Study of Gleevec/Imatinib Mesylate (STI-571, NCS 716051) in Neurofibromatosis (NF1) Patients With Plexiform Neurofibromas Completed NCT01673009 Phase 2
24 Everolimus for Treatment of Disfiguring Cutaneous Lesions in Neurofibromatosis1 CRAD001CUS232T Completed NCT02332902 Phase 2
25 Efficacy and Safety Study of RAD001 in the Growth of the Vestibular Schwannoma(s) in Neurofibromatosis 2 (NF2) Patients Completed NCT01490476 Phase 2
26 Phase II Study of Everolimus (RAD001) in Children and Adults With Neurofibromatosis Type 2 Completed NCT01419639 Phase 2
27 Lapatinib Study for Children and Adults With Neurofibromatosis Type 2 (NF2) and NF2-Related Tumors Completed NCT00973739 Phase 2
28 Combination Chemotherapy in Treating Patients With Stage III or Stage IV Malignant Peripheral Nerve Sheath Tumors Completed NCT00304083 Phase 2
29 Bevacizumab for Symptomatic Vestibular Schwannoma in Neurofibromatosis Type 2 (NF2) Completed NCT01207687 Phase 2
30 Endostatin Study for Patients With Neurofibromatosis Type 2 (NF2) and NF2-Related Tumors Completed NCT02104323 Phase 2
31 S0330 Erlotinib in Treating Patients With Unresectable or Metastatic Malignant Peripheral Nerve Sheath Tumor Completed NCT00068367 Phase 2
32 Phase II Study of the Multichannel Auditory Brain Stem Implant for Deafness Following Surgery for Neurofibromatosis 2 Completed NCT00004437 Phase 2
33 Sorafenib and Dacarbazine in Soft Tissue Sarcoma Completed NCT00837148 Phase 2
34 Phase II Trial of Sunitinib (SU011248) in Patients With Recurrent or Inoperable Meningioma Completed NCT00589784 Phase 2
35 Vismodegib and Gamma-Secretase/Notch Signalling Pathway Inhibitor RO4929097 in Treating Patients With Advanced or Metastatic Sarcoma Completed NCT01154452 Phase 1, Phase 2
36 An Study to Evaluate the Safety and Efficacy of CNTX-4975 in Subjects With Painful Intermetatarsal Neuroma (Morton's Neuroma) Completed NCT02678793 Phase 2
37 ALGRX 4975 in the Treatment of Patients With Morton's Neuroma Completed NCT00130962 Phase 2
38 Safety and Efficacy Study of Torisel and Liposomal Doxorubicin for Patients With Recurrent Sarcoma Completed NCT00949325 Phase 1, Phase 2
39 Sorafenib in Treating Patients With Metastatic, Locally Advanced, or Recurrent Sarcoma Completed NCT00245102 Phase 2
40 Depsipeptide (Romidepsin) in Treating Patients With Metastatic or Unresectable Soft Tissue Sarcoma Completed NCT00112463 Phase 2
41 A Study to Evaluate the Efficacy and Safety of CNTX-4975 in Subjects With Painful Intermetatarsal Neuroma (Morton's Neuroma) Completed NCT02283957 Phase 2
42 Photodynamic Therapy for Benign Dermal Neurofibromas Recruiting NCT02728388 Phase 2
43 Study of Imatinib Mesylate in Neurofibromatosis Type I Patients Aged 2 to 21 With Plexiform Neurofibromas Recruiting NCT02177825 Phase 2
44 Selumetinib in Treating Patients With Neurofibromatosis Type 1 and Plexiform Neurofibromas That Cannot Be Removed by Surgery Recruiting NCT02407405 Phase 2
45 PLX3397 in Children and Young Adults With Refractory Leukemias and Refractory Solid Tumors Including Neurofibromatosis Type 1 (NF1) Associated Plexiform Neurofibromas (PN) Recruiting NCT02390752 Phase 1, Phase 2
46 Study of Axitinib in Patients With Neurofibromatosis Type 2 and Progressive Vestibular Schwannomas Recruiting NCT02129647 Phase 2
47 A Study of Pembrolizumab in Patients With Malignant Peripheral Nerve Sheath Tumor (MPNST), Not Eligible for Curative Surgery Recruiting NCT02691026 Phase 2
48 Mitogen Activated Protein Kinase Kinase (MEK1/2) Inhibitor Selumetinib (AZD6244 Hydrogen Sulfate) in People With Neurofibromatosis Type 1 (NF1) Mutated Gastrointestinal Stromal Tumors (GIST) Recruiting NCT03109301 Phase 2
49 Icotinib Study for Patients With Neurofibromatosis Type 2 (NF2) and NF2-Related Tumors Recruiting NCT02934256 Phase 2
50 AZD6244 Hydrogen Sulfate for Children With Nervous System Tumors Recruiting NCT01362803 Phase 1, Phase 2

Search NIH Clinical Center for Neurofibroma

Cochrane evidence based reviews: neurofibroma

Genetic Tests for Neurofibroma

Genetic tests related to Neurofibroma:

id Genetic test Affiliating Genes
1 Neurofibromas 29

Anatomical Context for Neurofibroma

MalaCards organs/tissues related to Neurofibroma:

39
Bone, Tongue, Skin, Colon, Breast, Thyroid, Salivary Gland

Publications for Neurofibroma

Articles related to Neurofibroma:

(show top 50) (show all 855)
id Title Authors Year
1
A case of eruptive neurofibroma in a woman with neurofibromatosis during treatment with methotrexate. ( 27978608 )
2017
2
The primacy of NF1 loss as the driver of tumorigenesis in neurofibromatosis type 1-associated plexiform neurofibromas. ( 28068329 )
2017
3
Solitary neurofibroma of the jugular foramen with extension to the middle ear: case report. ( 28038780 )
2016
4
Magnetic resonance neurographic confirmation of extensive Plexiform neurofibroma in neurofibromatosis-1 presenting as ambiguous genitalia. ( 27857458 )
2016
5
Isolated Neurofibroma of the Sigmoid Colon: a Case Report and Review of the Literature. ( 27577727 )
2016
6
Improvement of hyperpigmentation within a plexiform neurofibroma after treatment with Q-switched neodymium:yttrium-aluminium-garnet laser. ( 26880255 )
2016
7
Management of Giant Facial Neurofibroma With Intratumoral Hematoma in Neurofibromatosis Type 1 Patient. ( 27603687 )
2016
8
Solitary neurofibroma: a rare occurrence on gingiva. ( 27148653 )
2016
9
Management of iatrogenic vertebral artery injury following cervical neurofibroma excision: a case report. ( 27340929 )
2016
10
Hilar biliary neurofibroma without neurofibromatosis: case report with contrast-enhanced ultrasound findings. ( 27443917 )
2016
11
Minimal change nephrotic syndrome showing complete remission after resection of a neurofibroma in a type I neurofibromatosis patient. ( 26951918 )
2016
12
Initial Exploration on Temporal Branch of Facial Nerve Function Preservation in Plexiform Neurofibroma Resection. ( 27526236 )
2016
13
The Role of [(18)F]FDG-PET/CT in Predicting Malignant Transformation of Plexiform Neurofibromas in Neurofibromatosis-1. ( 28058117 )
2016
14
Molecular Analysis of Hybrid Neurofibroma/Schwannoma Identifies Common Monosomy 22 and I+-T-Catenin/CTNNA3 as a Novel Candidate Tumor Suppressor. ( 27765635 )
2016
15
Solitary Encapsulated Neurofibroma Not Associated with Neurofibromatosis-1 Affecting Tongue in a 73-Year-Old Female. ( 27525129 )
2016
16
Compression of the peroneal nerve by a neurofibroma originating from collaterals of the peroneal nerve: a case report. ( 26837306 )
2016
17
Unusual Case of a Proptosed Eye: Isolated Right Maxillary Neurofibroma. ( 27761273 )
2016
18
Neurofibroma of the Gallbladder Not Associated with Neurofibromatosis. ( 27984597 )
2016
19
Dual mTORC1/2 inhibition induces anti-proliferative effect in NF1-associated plexiform neurofibroma and malignant peripheral nerve sheath tumor cells. ( 26840085 )
2016
20
Trochlear Nerve Neurofibroma in a Clinically NF-1-Negative Patient; A Case Report and Review of Literature. ( 26893044 )
2016
21
Oral and Maxillofacial Pathology Case of the Month. Diagnosis: Neurofibroma. ( 27333701 )
2016
22
Hybrid Neurofibroma-Schwannoma. ( 27158577 )
2016
23
Neurofibroma of the cervical spine in infants: a case-based update. ( 27766466 )
2016
24
Low Rates of Blood Transfusion in Elective Resections of Neurofibromas in a Cohort Study: Neurofibroma Length as a Predictor of Transfusion Requirement. ( 27018698 )
2016
25
Misdiagnosis of plexiform neurofibroma as venous malformation in pediatric patients. ( 26868134 )
2016
26
Neurofibroma with naevus of Ota. ( 27766664 )
2016
27
Neurofibromatosis type 1 (NF1) gene: Beyond cafAc au lait spots and dermal neurofibromas. ( 27622733 )
2016
28
Neurofibroma of the Colon: A Diagnostic Mimicker of Gastrointestinal Stromal Tumor. ( 27920660 )
2016
29
Solitary Non Syndromic Oral Plexiform Neurofibroma: a Case Report and Review of Literature. ( 27840843 )
2016
30
Occult infratemporal fossa neurofibroma presenting with persistent unilateral tinnitus and middle ear effusion: More than meets the eye. ( 27913068 )
2016
31
Plexiform Neurofibroma: A Case Report. ( 26871793 )
2016
32
Insertional Mutagenesis Identifies a STAT3/Arid1b/I^-catenin Pathway Driving Neurofibroma Initiation. ( 26904939 )
2016
33
Plexiform neurofibroma. ( 27824540 )
2016
34
Intestinal ganglioneuromatosis with peri-intestinal neurofibroma limited to the gastrointestinal tract mimicking Crohn's disease. ( 27772903 )
2016
35
A case of portal hypertension by presumed as plexiform neurofibroma at the hepatic hilum. ( 27209645 )
2016
36
Intraparotid Neurofibroma of the Facial Nerve: A Case Report. ( 27602341 )
2016
37
The role of nerve microenvironment for neurofibroma development. ( 27517146 )
2016
38
Neurofibroma around the Ear Canal: Report of Three Cases. ( 27487361 )
2016
39
Isolated Vaginal Neurofibroma Presenting as Vaginal Wall Cyst: A Rare Case Report With Review of Literature. ( 27385974 )
2016
40
Neurofibroma of the cervical spine in infants. ( 27066797 )
2016
41
Isolated plexiform neurofibroma mimicking a vascular lesion. ( 27192529 )
2016
42
Reconstruction with soft tissue free flaps for large defects after the resection of giant facial neurofibroma. ( 27998663 )
2016
43
Neurofibromatosis type 1, presenting as a rare widespread neurofibromas with cord compression. ( 27141278 )
2016
44
EGFR-Stat3 signalling in nerve glial cells modifies neurofibroma initiation. ( 27748759 )
2016
45
Surgically treated solitary giant gluteal and retroperitoneal neurofibroma: a case report. ( 27122017 )
2016
46
Unusual location of a plexiform neurofibroma in the fallopian tube: A case report. ( 27641440 )
2016
47
Sphenoid wing dysplasia and plexiform neurofibroma in neurofibromatosis type 1. ( 27061833 )
2016
48
Multifactorial pathological hip subluxation in neurofibromatosis type-1 (NF1) due to intra-articular plexiform neurofibroma, lumbar radiculopathy and neurofibromatous polyneuropathy. ( 27932436 )
2016
49
An isolated colonic neurofibroma. ( 27366045 )
2016
50
MAGEA3 methylation status is associated with prognosis of malignant peripheral nerve sheath tumor and with neurofibroma type in neurofibromatosis type 1. ( 27422441 )
2016

Variations for Neurofibroma

ClinVar genetic disease variations for Neurofibroma:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 NF1 NM_000267.3(NF1): c.1721+3A> G single nucleotide variant Pathogenic rs1057518904 GRCh38 Chromosome 17, 31221932: 31221932

Expression for Neurofibroma

Search GEO for disease gene expression data for Neurofibroma.

Pathways for Neurofibroma

Pathways related to Neurofibroma according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1 11.43 NF1 NF2 S100B SYP
2 11.18 CDKN2A NF1 NF2

GO Terms for Neurofibroma

Cellular components related to Neurofibroma according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 9.32 ANK3 CD34 CDKN2A F13A1 KITLG MUC1
2 basal plasma membrane GO:0009925 8.96 ANK3 CD34

Biological processes related to Neurofibroma according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 regulation of neuronal synaptic plasticity GO:0048168 9.32 S100B SYP
2 regulation of long-term neuronal synaptic plasticity GO:0048169 9.26 NF1 SYP
3 negative regulation of MAPK cascade GO:0043409 9.16 NF1 NF2
4 negative regulation of protein kinase activity GO:0006469 9.13 CDKN2A NF1 NF2
5 negative regulation of cell-matrix adhesion GO:0001953 8.8 CDKN2A NF1 NF2

Sources for Neurofibroma

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....