NF1
MCID: NRF002
MIFTS: 93

Neurofibromatosis (NF1) malady

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Summaries for Neurofibromatosis

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Sources:
21Genetics Home Reference, 43NIH Rare Diseases, 34MedlinePlus, 44NINDS, 65Wikipedia, 47OMIM, 19GeneReviews, 33MalaCards
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NIH Rare Diseases:43 Neurofibromatosis (nf) is a genetic neurological disorder that can affect the brain, spinal cord, nerves and skin. tumors, or neurofibromas, grow along the body's nerves or on or underneath the skin. there are three types of neurofibromatosis: neurofibromatosis type 1 (nf1) causes skin changes and deformed bones and usually starts at birth. neurofibromatosis type 2 (nf2) causes hearing loss, ringing in the ears and poor balance. it often starts in the teen years. schwannomatosis causes intense pain. it is the rarest type. neurofibromatosis can either be an inherited disorder or the product of a gene mutation. both nf1 and nf2 are caused by two separate abnormal genes and may be inherited from parents who have nf or may be the result of a mutation in the sperm or egg cells. nf is considered an autosomal dominant disorder.the gene for nf1 is located on chromosome 17. the gene for nf2 is located on chromosome 22. there is no cure for neurofibromatosis. treatment is aimed at controlling symptoms. depending on the type of disease and how bad it is, treatment may include surgery to remove tumors, radiation therapy and medicines. last updated: 2/10/2010

MalaCards: Neurofibromatosis, also known as von recklinghausen disease, is related to neurofibroma and malignant peripheral nerve sheath tumor, and has symptoms including lisch nodules/iris hamartomas, proptosis/exophthalmos and arterial stenosis/occlusion. An important gene associated with Neurofibromatosis is NF1 (neurofibromin 1), and among its related pathways are pilocytic astrocytoma and Development VEGF signaling and activation. The compounds Fumaric acid and 3-nitropropionic acid have been mentioned in the context of this disorder. Affiliated tissues include skin, brain and bone, and related mouse phenotypes are pigmentation and craniofacial.

Genetics Home Reference:21 Neurofibromatosis type 1 is a condition characterized by changes in skin coloring (pigmentation) and the growth of tumors along nerves in the skin, brain, and other parts of the body. The signs and symptoms of this condition vary widely among affected people.

MedlinePlus:34 Neurofibromatosis is a genetic disorder of the nervous system. it mainly affects how nerve cells form and grow. it causes tumors to grow on nerves. you can get neurofibromatosis from your parents, or it can happen because of a mutation (change) in your genes. once you have it, you can pass it along to your children. usually the tumors are benign, but sometimes they can become cancerous. there are three types of neurofibromatosis: type 1 (nf1) causes skin changes and deformed bones. it usually starts in childhood. sometimes the symptoms are present at birth. type 2 (nf2) causes hearing loss, ringing in the ears, and poor balance. symptoms often start in the teen years. schwannomatosis causes intense pain. it is the rarest type. doctors diagnose the different types based on the symptoms. genetic testing is also used to diagnose nf1 and nf2. there is no cure. treatment can help control symptoms. depending on the type of disease and how bad it is, treatment may include surgery to remove tumors, radiation therapy, and medicines. nih: national institute of neurological disorders and stroke

NINDS:44 The neurofibromatoses are genetic disorders that cause tumors to grow in the nervous system.

Wikipedia:65 Neurofibromatosis (NF) refers to a number of inherited conditions that are clinically and genetically... more...

Description from OMIM:47 162200,101000,162270,162210,613675

GeneReviews summary for nf2

GeneReviews summary for nf1

Aliases & Classifications for Neurofibromatosis

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8Disease Ontology, 65Wikipedia, 43NIH Rare Diseases, 44NINDS, 10DISEASES, 45Novoseek, 34MedlinePlus, 21Genetics Home Reference, 49Orphanet, 19GeneReviews, 62UMLS, 22GTR, 9diseasecard, 47OMIM, 20GeneTests, 40NCIt, 58SNOMED-CT, 27ICD9CM, 35MeSH, 36MESH via Orphanet, 26ICD10 via Orphanet, 59SNOMED-CT via Orphanet, 63UMLS via Orphanet
See all sources

Classifications:



Characteristics (Orphanet epidemiological data):

49
von recklinghausen disease:
Inheritance: Autosomal dominant; Prevalence: 1-5/10000; Age of onset: Neonatal/infancy
von recklinghausen disease due to nf1 mutation or intragenic deletion:
Inheritance: Autosomal dominant; Prevalence: 1-9/100000; Age of onset: Variable


Aliases & Descriptions:

neurofibromatosis 8 65 43 44 10 45 34
von recklinghausen disease 65 19 43 21 49
neurofibromatosis type 1 8 43 21 45 49
neurofibromatosis type 2 8 43 21 45 49
neurofibromatosis 2 19 20 22 21 62
bilateral acoustic neurofibromatosis 65 19 43 21
neurofibromatosis type ii 65 19 43 21
neurofibromatosis 1 8 19 21 62
nf2 19 43 21 49
nf1 19 43 21 49
peripheral neurofibromatosis 8 65 21
central neurofibromatosis 8 19 21
type 1 neurofibromatosis 43 20 22
neurofibromatosis type 4 8 43 22
schwannoma, acoustic, bilateral 65 21
recklinghausen disease, nerve 65 21
familial acoustic neuromas 21 62
familial acoustic neuroma 65 49
neurofibromatosis, type 2 9 47
neurofibromatosis, type 1 9 47
banf 65 21
von recklinghausen disease due to nf1 mutation or intragenic deletion 49
neurofibromatosis type 1 due to nf1mutation or intragenic deletion 49
von recklinghausen's neurofibromatosis 19
type iv neurofibromatosis of riccardi 8
neurofibromatosis type 4 of riccardi 43
recklinghausen's neurofibromatosis 8
familial vestibular schwannoma 49
neurofibromatosis central type 43
acoustic schwannomas bilateral 43
acoustic neurinoma bilateral 43
von recklinghausen's disease 44
neurofibromatosis, atypical 43
familial acoustic neurinoma 49
acoustic neurofibromatosis 8
multiple neurofibromatosis 65
neurofibromatosis type iv 8
von reklinghausen disease 8
neurofibromatosis type i 65
recklinghausen's disease 43
neurofibromatoses 62


External Ids:

Disease Ontology8 DOID:8712
NCIt40 C3273
ICD9CM27 237.71
MESH via Orphanet36 C538607, D009456, D009464 D016518, more
ICD10 via Orphanet26 Q85.0
SNOMED-CT via Orphanet59 92824003, 126949007, 92503002
UMLS via Orphanet63 C0027831, C0027832, C0027859

Related Diseases for Neurofibromatosis

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Sources:
17GeneCards, 18GeneDecks
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Diseases in the Neurofibromatosis family:

Neurofibromatosis Type 3a Neurofibromatosis Type 3b
Neurofibromatosis Type 5 Neurofibromatosis Type 6

Diseases related to Neurofibromatosis via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 506)
idRelated DiseaseScoreTop Affiliating Genes
1neurofibroma31.3PDGFRA, NF2, NF1
2malignant peripheral nerve sheath tumor31.1PDGFRA, NF2, NF1
3plexiform neurofibroma31.1PDGFRA, NF1
4neurofibromatosis-noonan syndrome30.9PTPN11, NF1
5neurofibrosarcoma30.8NF1, NF2
6noonan syndrome30.8HRAS, KRAS, NF1, PTPN11
7gastrointestinal stromal tumor30.8SDHB, PDGFRA, NF2, NF1
8legius syndrome30.7SPRED1
9astrocytoma30.6VHL, PDGFRA, NF2, NF1, HRAS
10pheochromocytoma30.6SDHB, SDHD, RET, VHL, CREB1, NF1
11leukemia30.5PTPN11, PDGFRA, CREB1, RASA2, NF1, KRAS
12juvenile myelomonocytic leukemia30.5PTPN11, NF1
13piebaldism30.4PDGFRA
14phaeochromocytoma30.4RET, SDHD, SDHB
15learning disability30.3NF1
16glomus tumor30.3SDHB, SDHD, VHL
17ependymoma30.3NF1, NF2, PDGFRA
18neuroma30.3RET
19adenocarcinoma30.3VHL, CREB1, NF2, KRAS, HRAS
20leopard syndrome30.2HRAS, PTPN11
21sarcoma30.2PDGFRA, NF2, NF1, KRAS, HRAS
22cherubism30.2PTPN11
23hyperparathyroidism30.2SDHB, SDHD, RET, NF1
24colorectal cancer30.1PDGFRA, NF2, NF1, KRAS, HRAS
25acoustic neuroma30.1VHL, NF2, NF1
26multiple endocrine neoplasia30.1SDHB, SDHD, RET, VHL, NF2, NF1
27noonan syndrome 130.1PTPN11
28multiple endocrine neoplasia type 2a30.0SDHB, SDHD, RET, VHL, NF1
29neuroendocrine tumor30.0SDHD, RET, PDGFRA, NF1
30myeloproliferative disorder30.0PTPN11, PDGFRA, CREB1, NF1, HRAS
31neurilemmoma30.0NF2, NF1
32breast cancer30.0SDHB, PTPN11, VHL, RASA1, NF2, NF1
33acute leukemia30.0PTPN11, CREB1, NF1, KRAS, HRAS
34chronic myelomonocytic leukemia29.9NF1, PDGFRA, PTPN11
35myeloid leukemia29.9PTPN11, CREB1, NF1, HRAS
36malignant glioma29.9NF1, NF2, PDGFRA
37von hippel-lindau disease29.9NF1, VHL, RET, SDHD, SDHB
38adenoma29.9RET, VHL, CREB1, KRAS, HRAS
39melanoma29.9PTPN11, PDGFRA, CREB1, NF2, NF1, KRAS
40prostate cancer29.8KRAS, NF2, RASA2, CREB1, PDGFRA, PTPN11
41leiomyomatosis29.7VHL, SDHB
42carney triad29.7SDHB, SDHD, PDGFRA
43developmental disabilities29.7PTPN11, RET, HRAS
44costello syndrome29.7PTPN11, KRAS, HRAS
45cystadenoma29.7KRAS, VHL
46myelodysplastic syndromes29.7PTPN11, PDGFRA, NF1, KRAS
47paraganglioma29.6SDHB, SDHD, RET, VHL, NF1
48hemangioma29.6SDHB, SDHD, RET, VHL, NF1
49mental retardation29.6PTPN11, VHL, CREB1, NF1, HRAS
50colon cancer29.6CREB1, NF1, KRAS, HRAS

Graphical network of the top 20 diseases related to Neurofibromatosis:



Diseases related to neurofibromatosis

Symptoms for Neurofibromatosis

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47OMIM, 49Orphanet
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Symptoms by clinical synopsis from OMIM:

101000

Clinical features from OMIM:

162200,101000,162270,162210,613675

Symptoms:

49 (show all 65)
  • lisch nodules/iris hamartomas
  • proptosis/exophthalmos
  • arterial stenosis/occlusion
  • myeloproliferative syndrome/chronic leukemia
  • alexia/agraphia/writing/reading troubles
  • benign tumor of the brain/nervous system
  • skin tumors/lumps/epidermal cysts
  • diffuse/generalised skin hyperpigmentation/melanoderma
  • cutaneous neurofibromas/facial angiofibromas/koenen tumors
  • chronic arterial hypertension
  • meningioma
  • glial tumor/glioblastoma
  • tinnitus
  • soft tissue sarcoma/cancer/tumor/liposarcoma/myosarcoma
  • ureteral/urethral/vesical/bladder neoplasm/tumor/carcinoma/cancer
  • digestive neoplasm/tumor/carcinoma/cancer
  • structural anomalies of the respiratory system and diaphragm
  • excessive freckling
  • central nervous system/peripheral nerves neoplasm/tumor/carcinoma/cancer
  • macrocephaly/macrocrania/megalocephaly/megacephaly
  • hydrocephaly
  • corneal clouding/opacity/vascularisation
  • cataract/lens opacification
  • hearing loss/hypoacusia/deafness
  • dysostosis/chondrodysplasia/osteodysplasia/osteochondrosis/skeletal dysplasia
  • cranial hypertension
  • anomalies of bones/skeletal anomalies
  • restricted joint mobility/joint stiffness/ankylosis
  • mild visual loss/impaired visual acuity
  • sensorineural deafness/hearing loss
  • precocious puberty
  • pigmented naevi/naevus pigmentosus/lentigo
  • scoliosis
  • seizures/epilepsy/absences/spasms/status epilepticus
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • facial palsy
  • kyphosis
  • abnormal gait
  • ataxia/incoordination/trouble of the equilibrium
  • speech troubles/aphasia/dysphasia/echolalia/mutism/logorrhea/dysprosodia
  • autosomal dominant inheritance
  • short stature/dwarfism/nanism
  • cranial nerves palsy
  • subcutaneous nodules/lipomas/tumefaction/swelling
  • paresthesia/dysesthesia/hypoesthesia/anesthesia/numbness
  • retinal vascular anomalies/retinal telangiectasia
  • heterochromia/mixed colouring of iris
  • anomalies of the endocrine glands
  • dizziness
  • glaucoma
  • neoplasms/tumors
  • pheochromocytoma/paraganglioma
  • tall stature/gigantism/growth acceleration
  • cafe-au-lait spot
  • xanthomas/lipomas
  • facial pain/cephalalgia/migraine
  • anomalies of eyes and vision
  • macules
  • follicular/erythematous/edematous papules/milium
  • sensitive trouble/deficit
  • anomalies of ear and hearing
  • irregular/patchy skin hypopigmentation
  • troubles of memory/amnesia/hypermnesia
  • hyperactivity/attention deficit
  • narrowed/gracile diaphysis/diaphyses/long bones/dolichostenomelia

Drugs & Therapeutics for Neurofibromatosis

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Sources:
42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
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Drug clinical trials:

Search ClinicalTrials for Neurofibromatosis

Search NIH Clinical Center for Neurofibromatosis

Genetic Tests for Neurofibromatosis

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Sources:
20GeneTests, 22GTR
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Genetic tests related to Neurofibromatosis:

id Genetic test Affiliating Genes
1 Neurofibromatosis 120 NF1
2 Neurofibromatosis 220 NF2
3 Neurofibromatosis, Type 122
4 Neurofibromatosis, Type 222
5 Neurofibromatosis Type 422

Anatomical Context for Neurofibromatosis

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33MalaCards
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MalaCards organs/tissues related to Neurofibromatosis:

33
Skin, Brain, Bone, Spinal cord, Testes, Breast, Eye, Lung, Thyroid, Colon, Kidney, Myeloid, Endothelial, Retina, Pancreas, Liver, Prostate, Ovary, Bone marrow, Tongue, Smooth muscle, Monocytes, Thalamus, Cortex, Pituitary, Pancreatic islet, Cervix, Globus pallidus, Adrenal gland, Small intestine, B cells, T cells

Animal Models for Neurofibromatosis or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Neurofibromatosis:

37 (show all 24)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011869.5KRAS, NF1, PDGFRA, PTPN11
2MP:00053828.9SPRED1, PTPN11, VHL, PDGFRA, RASA1, NF2
3MP:00053908.9PTPN11, VHL, PDGFRA, CREB1, NF2, NF1
4MP:00053678.9RET, VHL, PDGFRA, NF2, NF1, KRAS
5MP:00107718.8PTPN11, VHL, PDGFRA, NF2, NF1, KRAS
6MP:00030128.8OMG, SDHB, PTPN11, RET, PDGFRA, RASA1
7MP:00053718.8SPRED1, PTPN11, RET, VHL, PDGFRA, RASA1
8MP:00053698.6PTPN11, RET, VHL, PDGFRA, CREB1, RASA1
9MP:00020068.6SDHD, PTPN11, RET, VHL, PDGFRA, NF2
10MP:00053818.5PTPN11, RET, VHL, PDGFRA, RASA1, KRAS
11MP:00053888.5SPRED1, PTPN11, RET, PDGFRA, CREB1, NF2
12MP:00053898.5PTPN11, RET, VHL, PDGFRA, CREB1, NF2
13MP:00053878.4SPRED1, PTPN11, RET, VHL, PDGFRA, RASA1
14MP:00053868.4SPRED1, SDHD, RET, PDGFRA, CREB1, NF2
15MP:00053978.3SPRED1, PTPN11, RET, VHL, PDGFRA, CRLF3
16MP:00053808.3VHL, RET, PTPN11, SDHD, PDGFRA, CREB1
17MP:00053798.2VHL, RET, PTPN11, SDHD, PDGFRA, CREB1
18MP:00053847.8SDHD, PTPN11, RET, VHL, PDGFRA, CRTAC1
19MP:00053857.8SDHD, PTPN11, APOBEC1, RET, VHL, PDGFRA
20MP:00028737.7HRAS, OMG, SDHD, PTPN11, APOBEC1, RET
21MP:00036317.5PDGFRA, RET, PTPN11, SDHD, SPRED1, CRTAC1
22MP:00107687.5VHL, RET, APOBEC1, PTPN11, SDHD, PDGFRA
23MP:00053787.4VHL, RET, PTPN11, SDHD, SPRED1, PDGFRA
24MP:00053767.0RET, APOBEC1, PTPN11, SDHD, OMG, VHL

Publications for Neurofibromatosis

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Sources:
52PubMed
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Articles related to Neurofibromatosis:

(show top 50)    (show all 1485)
idTitleAuthorsYear
1
(18)F-FDG PET/CT for detection of malignant peripheral nerve sheath tumours in neurofibromatosis type 1: tumour-to-liver ratio is superior to an SUVmax cut-off. (24097302)
2014
2
mTORC1 inhibition delays growth of neurofibromatosis type 2 schwannoma. (24414536)
2014
3
Plasma S100I^ is not a useful biomarker for tumor burden in neurofibromatosis. (23261835)
2013
4
Depletion of the novel p53-target gene carnitine palmitoyltransferase 1C delays tumor growth in the neurofibromatosis type I tumor model. (23412344)
2013
5
Mutation spectrum of NF1 and clinical characteristics in 78 Korean patients with neurofibromatosis type 1. (23668869)
2013
6
BRAFV600E mutation in sporadic and neurofibromatosis type 1-related malignant peripheral nerve sheath tumors. (24366910)
2013
7
Epilepsy due to a cortical malformation in a Neurofibromatosis type 1 patient. (23602237)
2013
8
Neurofibroma of the cervix presenting as cervical stenosis in a patient with neurofibromatosis type 1: a case report. (22317879)
2012
9
Growth dynamics of plexiform neurofibromas: a retrospective cohort study of 201 patients with neurofibromatosis 1. (23035791)
2012
10
Spontaneous aortic rupture in a patient with neurofibromatosis type 1. (22493769)
2012
11
Screening for mutation site on the type I neurofibromatosis gene in a family. (22207399)
2012
12
Rare synchronous association of vestibular schwannoma and indolent insular oligodendroglioma in a patient without neurofibromatosis: controversial issue of timing for surgical treatment of asymptomatic low-grade gliomas. (23180968)
2012
13
Role of non-coding RNA ANRIL in the genesis of plexiform neurofibromas in neurofibromatosis type 1]. (22578354)
2012
14
Synchronous double tumor of breast cancer and gastrointestinal stromal tumor in a patient with neurofibromatosis type 1: report of a case. (22199319)
2011
15
Primary actinomycosis of the foot in a patient with neurofibromatosis: a case report. (21571698)
2011
16
Diffuse scalp malignant peripheral nerve sheath tumor with intracranial extension in a patient with neurofibromatosis type 1. (20655235)
2010
17
Decreased expression of neurofibromin contributes to epithelial-mesenchymal transition in neurofibromatosis type 1. (20002172)
2010
18
Neurofibroma of the recurrent laryngeal nerve in a patient with known neurofibromatosis type 1. (19344601)
2009
19
Evolution and origin of HRS, a protein interacting with Merlin, the Neurofibromatosis 2 gene product. (20054405)
2009
20
Plexiform schwannoma of the esophagus in a child with neurofibromatosis type 2. (19573680)
2009
21
Developmental abnormalities and cancer predisposition in neurofibromatosis type 1. (19601812)
2009
22
Diffusion-weighted imaging of retroperitoneal malignant peripheral nerve sheath tumor in a patient with neurofibromatosis type 1. (18460849)
2008
23
Neurofibromatosis type I: genetics and clinical manifestations. (18214791)
2008
24
Parathyroid carcinoma and neurofibromatosis. (19081027)
2008
25
Identification of mutations in the NF2 gene in Polish patients with neurofibromatosis type 2. (18670066)
2008
26
Anesthetic management of a parturient with neurofibromatosis 1 and Charcot-Marie-Tooth disease. (17869996)
2007
27
Glioma formation in neurofibromatosis 1 reflects preferential activation of K-RAS in astrocytes. (15665300)
2005
28
Neurofibromatosis I and unexplained iron deficiency in two patients: is iron depletion related to neurofibroma growth? (16283447)
2005
29
Circulating growth factor levels are associated with tumorigenesis in neurofibromatosis type 1. (15355893)
2004
30
A case of neurofibromatosis-Noonan syndrome with a central giant cell granuloma. (15356469)
2004
31
Neurofibromatosis type 1 tumour suppressor gene expression is deficient in psoriatic skin in vivo and in vitro: a potential link to increased Ras activity. (14996090)
2004
32
Independent NF1 mutations in two large families with spinal neurofibromatosis. (12566521)
2003
33
Quinidine impairs proliferation of neurofibromatosis type 2-deficient human malignant mesothelioma cells. (12673723)
2003
34
Establishing priorities in neurofibromatosis research: a workshop summary. (11388764)
2001
35
Aetiology of spinal deformities in neurofibromatosis 1: new hypotheses. (11359370)
2001
36
An additional case of solitary subungual glomus tumor associated with neurofibromatosis 1. (10920593)
2000
37
Characterization of the Fugu rubripes NLK and FN5 genes flanking the NF1 (Neurofibromatosis type 1) gene in the 5' direction and mapping of the human counterparts. (10863097)
2000
38
Multiple intracranial and intraspinal meningiomas in the neurocristopathy (phacomatosis) type of neurofibromatosis]. (11378907)
2000
39
NF1 gene and neurofibromatosis 1. (10625171)
2000
40
Castleman's disease in a 44-year-old male with neurofibromatosis and pheochromocytoma. (9477139)
1997
41
Prolonged extreme thrombocytosis associated with neurofibromatosis type 1. (9042140)
1997
42
Exclusion of allelism of Noonan syndrome and neurofibromatosis-type 1 in a large family with Noonan syndrome-neurofibromatosis association. (8985499)
1996
43
Neurofibromatosis 2: loss of merlin's protective spell. (8791482)
1996
44
Somatic mutations in the neurofibromatosis type 2 gene in sporadic meningiomas. (7868131)
1995
45
Ras-GTP regulation is not altered in cultured melanocytes with reduced levels of neurofibromin derived from patients with neurofibromatosis 1 (NF1). (7794530)
1995
46
Multiple transcripts of the neurofibromatosis type 1 gene in human brain and in brain tumours. (7874833)
1994
47
An anti-Ras function of neurofibromatosis type 2 gene product (NF2/Merlin). (8089100)
1994
48
Aberrant regulation of ras proteins in malignant tumour cells from type 1 neurofibromatosis patients. (1570015)
1992
49
A small deletion and an adjacent base exchange in a potential stem-loop region of the neurofibromatosis 1 gene. (1937470)
1991
50
Anterolateral cervical meningocele in association with neurofibromatosis: MR and CT studies. (2501361)
1989

Variations for Neurofibromatosis

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Sources:
64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 7dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Neurofibromatosis:

64 (show all 91)
id Symbol AA change Variation ID SNP ID
1NF1p.Gly629ArgVAR_002653rs199474738
2NF1p.Leu844ArgVAR_002654rs137854566
3NF1p.Leu898ProVAR_002655rs199474786
4NF1p.Met1035ArgVAR_002657rs137854553
5NF1p.Lys1440ArgVAR_002658rs199474788
6NF1p.Lys1444GluVAR_002659rs137854550
7NF1p.Arg1611TrpVAR_002660
8NF1p.Trp1952ArgVAR_002662rs199474791
9NF1p.Leu1953ProVAR_002663rs199474792
10NF1p.Leu2164MetVAR_002664rs137854551
11NF1p.Tyr2192AsnVAR_002665
12NF1p.Thr2631AlaVAR_002667rs199474793
13NF1p.Leu1446ProVAR_008129rs199474733
14NF1p.Ile117SerVAR_010989rs199474731
15NF1p.Asp338GlyVAR_010990rs199474773
16NF1p.Leu508ProVAR_010991rs137854558
17NF1p.Leu844PheVAR_010992rs199474785
18NF1p.Gly1166AspVAR_010993rs199474787
19NF1p.Arg1204TrpVAR_010994rs199474732
20NF1p.Arg1276ProVAR_010995rs137854556
21NF1p.Arg1412SerVAR_010996rs137854554
22NF1p.Lys1440GlnVAR_010997rs199474790
23NF1p.Ser1489GlyVAR_010998rs199474743
24NF1p.Cys93TyrVAR_017551rs199474728
25NF1p.Leu604ValVAR_017553rs142712751
26NF1p.Arg1276GlnVAR_017555rs137854556
27NF1p.Ser82PheVAR_021730rs199474729
28NF1p.Ile157AsnVAR_021731rs199474744
29NF1p.Leu216ProVAR_021732rs199474756
30NF1p.Leu357ProVAR_021733rs137854563
31NF1p.Tyr491CysVAR_021734rs199474757
32NF1p.Leu549ProVAR_021735rs199474758
33NF1p.Leu578ArgVAR_021736rs199474774
34NF1p.Ile581ThrVAR_021737rs199474759
35NF1p.Lys583ArgVAR_021738rs199474760
36NF1p.Leu695ProVAR_021740rs199474761
37NF1p.Leu763ProVAR_021741rs199474762
38NF1p.Trp777SerVAR_021743rs199474745
39NF1p.Thr780LysVAR_021744rs199474746
40NF1p.His781ProVAR_021745rs199474763
41NF1p.Trp784CysVAR_021746rs199474778
42NF1p.Trp784ArgVAR_021747rs199474730
43NF1p.Leu847ProVAR_021748rs199474747
44NF1p.Gly848GluVAR_021749rs199474748
45NF1p.Leu920ProVAR_021750rs199474775
46NF1p.Met968ArgVAR_021751rs199474749
47NF1p.Leu1147ProVAR_021752rs199474779
48NF1p.Asn1156SerVAR_021753rs199474764
49NF1p.Phe1193CysVAR_021754rs199474780
50NF1p.Arg1204GlyVAR_021755rs199474732
51NF1p.Arg1250ProVAR_021756rs199474765
52NF1p.Lys1444AsnVAR_021757rs199474750
53NF1p.Lys1444ArgVAR_021758rs199474781
54NF1p.Ile1605ValVAR_021759rs199474766
55NF1p.Ala1785SerVAR_021760rs199474782
56NF1p.Gly2001ArgVAR_021762rs199474751
57NF1p.Asp2012AsnVAR_021763rs199474783
58NF1p.Pro2221AlaVAR_021764rs199474776
59NF1p.Glu2357LysVAR_021765rs199474784
60NF1p.Thr2507IleVAR_021766rs149055633
61NF1p.His31ArgVAR_032459rs199474725
62NF1p.Leu145ProVAR_032460rs199474734
63NF1p.Asp186ValVAR_032461
64NF1p.Cys324ArgVAR_032463rs199474735
65NF1p.Glu337ValVAR_032464rs199474736
66NF1p.Tyr489CysVAR_032465rs137854557
67NF1p.Leu532ProVAR_032466rs199474737
68NF1p.Ser574ArgVAR_032467
69NF1p.Leu844ProVAR_032468rs137854566
70NF1p.Met1073ValVAR_032470rs199474740
71NF1p.Leu1196ArgVAR_032471rs199474741
72NF1p.Leu1243ProVAR_032472rs137854564
73NF1p.Arg1276GlyVAR_032473rs199474742
74NF1p.Lys1430GluVAR_032474
75NF1p.Arg160ThrVAR_065888rs199474752
76NF2p.Phe62SerVAR_000810
77NF2p.Glu106GlyVAR_000813
78NF2p.Asn220TyrVAR_000818
79NF2p.Thr352MetVAR_000821
80NF2p.Leu360ProVAR_000822
81NF2p.Leu535ProVAR_000825
82NF2p.Gln538ProVAR_000826
83NF2p.Leu234ArgVAR_009123
84NF2p.Met77ValVAR_043011
85NF2p.Leu141ProVAR_043012
86NF2p.Gly197CysVAR_043013
87NF2p.Lys413GluVAR_043014
88NF2p.Lys533ThrVAR_043015
89NF2p.Leu539HisVAR_043016
90NF2p.Lys579MetVAR_043017
91NF2p.Cys133ArgVAR_065227

Clinvar genetic disease variations for Neurofibromatosis:

1 (show all 46)
id Gene Name Type Significance SNP ID Assembly Location
1NF2NM_000268.3(NF2): c.1079T> C (p.Leu360Pro)single nucleotide variantPathogenicrs74315492GRCh37Chr 22, 30067894: 30067894
2NF2NM_000268.3(NF2): c.240+1G> Tsingle nucleotide variantPathogenicGRCh37Chr 22, 30032866: 30032866
3NF2NM_000268.3(NF2): c.1604T> C (p.Leu535Pro)single nucleotide variantPathogenicrs74315493GRCh37Chr 22, 30077457: 30077457
4NF2NM_000268.3(NF2): c.1613A> C (p.Gln538Pro)single nucleotide variantPathogenicrs74315494GRCh37Chr 22, 30077466: 30077466
5NF2NM_000268.3(NF2): c.286_288delTTC (p.Phe96del)deletionPathogenicrs121434260GRCh37Chr 22, 30035124: 30035126
6NF2NM_000268.3(NF2): c.544G> T (p.Glu182Ter)single nucleotide variantPathogenicrs74315495GRCh37Chr 22, 30051610: 30051610
7NF2NM_000268.3(NF2): c.784C> T (p.Arg262Ter)single nucleotide variantPathogenicrs74315496GRCh37Chr 22, 30057302: 30057302
8NF2NM_000268.3(NF2): c.958C> T (p.Gln320Ter)single nucleotide variantPathogenicrs74315497GRCh37Chr 22, 30064394: 30064394
9NF2NM_000268.3(NF2): c.1021C> T (p.Arg341Ter)single nucleotide variantPathogenicrs74315499GRCh37Chr 22, 30067836: 30067836
10NF2NM_000268.3(NF2): c.1219C> T (p.Gln407Ter)single nucleotide variantPathogenicrs74315501GRCh37Chr 22, 30069354: 30069354
11NF2NM_000268.3(NF2): c.1387G> T (p.Glu463Ter)single nucleotide variantPathogenicrs74315503GRCh37Chr 22, 30070871: 30070871
12NF2NM_000268.3(NF2): c.1396C> T (p.Arg466Ter)single nucleotide variantPathogenicrs74315504GRCh37Chr 22, 30070880: 30070880
13NF2NM_000268.3(NF2): c.1579G> T (p.Glu527Ter)single nucleotide variantPathogenicrs74315505GRCh37Chr 22, 30077432: 30077432
14NF2NM_000268.3(NF2): c.185T> C (p.Phe62Ser)single nucleotide variantPathogenicrs121434261GRCh37Chr 22, 30032810: 30032810
15NF1NF1, ALU INSinsertionPathogenic
16NF1NF1, 5-BP DELdeletionPathogenic
17NF1NM_000267.3(NF1): c.5795T> C (p.Leu1932Pro)single nucleotide variantPathogenicrs199474792GRCh37Chr 17, 29661901: 29661901
18NF1NM_000267.3(NF1): c.5845A> T (p.Arg1949Ter)single nucleotide variantPathogenicrs267606595GRCh37Chr 17, 29661951: 29661951
19NF1NM_000267.3(NF1): c.4267A> G (p.Lys1423Glu)single nucleotide variantPathogenicrs137854550GRCh37Chr 17, 29585518: 29585518
20NF1NM_000267.3(NF1): c.5448dupC (p.Ser1817Leufs)duplicationPathogenicrs267606596GRCh37Chr 17, 29654759: 29654760
21NF1NM_000267.3(NF1): c.5465_5466insT (p.Lys1823Glnfs)insertionPathogenicrs267606597GRCh37Chr 17, 29654776: 29654777
22NF1NM_000267.3(NF1): c.6427C> A (p.Leu2143Met)single nucleotide variantPathogenicrs137854551GRCh37Chr 17, 29664448: 29664448
23NF1NM_000267.3(NF1): c.6511T> A (p.Tyr2171Asn)single nucleotide variantPathogenicrs267606598GRCh37Chr 17, 29664532: 29664532
24NF1NM_000267.3(NF1): c.5839C> T (p.Arg1947Ter)single nucleotide variantPathogenicrs137854552GRCh37Chr 17, 29661945: 29661945
25NF1NM_000267.3(NF1): c.4084C> T (p.Arg1362Ter)single nucleotide variantPathogenicrs137854560GRCh37Chr 17, 29576111: 29576111
26NF1NM_000267.3(NF1): c.3113+1G> Asingle nucleotide variantPathogenicrs267606599GRCh37Chr 17, 29557401: 29557401
27NF1NM_000267.3(NF1): c.1541_1542delAG (p.Gln514Argfs)deletionPathogenicrs267606600GRCh37Chr 17, 29546036: 29546037
28NF1NM_000267.3(NF1): c.3104T> G (p.Met1035Arg)single nucleotide variantPathogenicrs137854553GRCh37Chr 17, 29557391: 29557391
29NF1NM_000267.3(NF1): c.4173A> T (p.Arg1391Ser)single nucleotide variantPathogenicrs137854554GRCh37Chr 17, 29585424: 29585424
30NF1NM_000267.3(NF1): c.3827G> C (p.Arg1276Pro)single nucleotide variantPathogenicrs137854556GRCh37Chr 17, 29562747: 29562747
31NF1NM_000267.3(NF1): c.1466A> G (p.Tyr489Cys)single nucleotide variantPathogenicrs137854557GRCh37Chr 17, 29541542: 29541542
32NF1NM_000267.3(NF1): c.1523T> C (p.Leu508Pro)single nucleotide variantPathogenicrs137854558GRCh37Chr 17, 29541599: 29541599
33NF1NM_000267.3(NF1): c.1260+1G> Asingle nucleotide variantPathogenicrs267606603GRCh37Chr 17, 29528504: 29528504
34NF1NM_000267.3(NF1): c.4021C> T (p.Gln1341Ter)single nucleotide variantPathogenicrs137854559GRCh37Chr 17, 29576048: 29576048
35NF1NM_000267.3(NF1): c.5944-5A> Gsingle nucleotide variantPathogenicrs267606604GRCh37Chr 17, 29663346: 29663346
36NF1NF1, DELdeletionPathogenic
37NF1NM_000267.3(NF1): c.3721C> T (p.Arg1241Ter)single nucleotide variantPathogenicrs137854562GRCh37Chr 17, 29562641: 29562641
38NF1NM_000267.3(NF1): c.5406dupT (p.Ile1803Tyrfs)duplicationPathogenicrs267606605GRCh37Chr 17, 29654717: 29654718
39NF1NF1, 1-BP DEL, 3775TdeletionPathogenic
40NF1NM_000267.3(NF1): c.1070T> C (p.Leu357Pro)single nucleotide variantPathogenicrs137854563GRCh37Chr 17, 29528062: 29528062
41NF1NF1, 1-BP DEL, 4071CdeletionPathogenic
42NF1NM_000267.3(NF1): c.3728T> C (p.Leu1243Pro)single nucleotide variantPathogenicrs137854564GRCh37Chr 17, 29562648: 29562648
43NF1NM_000267.3(NF1): c.5710G> T (p.Glu1904Ter)single nucleotide variantPathogenicrs137854565GRCh37Chr 17, 29657477: 29657477
44NF1NM_000267.3(NF1): c.2531T> G (p.Leu844Arg)single nucleotide variantPathogenicrs137854566GRCh37Chr 17, 29556164: 29556164
45NF1NF1, IVS27DS, G-C, +1single nucleotide variantPathogenic
46NF1NM_000267.3(NF1): c.574C> T (p.Arg192Ter)single nucleotide variantPathogenicrs397514641GRCh37Chr 17, 29497003: 29497003

Expression for genes affiliated with Neurofibromatosis

About this section
Sources:
2BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Neurofibromatosis

Search GEO for disease gene expression data for Neurofibromatosis.

Pathways for genes affiliated with Neurofibromatosis

About this section
Sources:
50PathCards, 38NCBI BioSystems Database, 60Thomson Reuters, 61Tocris Bioscience, 55Reactome, 53QIAGEN, 30KEGG, 5Cell Signaling Technology, 54R&D Systems, 51PharmGKB
See all sources

Pathways related to Neurofibromatosis according to GeneCards/GeneDecks:

(show top 50)    (show all 72)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
110.1PTPN11, NF1
2
Show member pathways
Development VEGF signaling via VEGFR2 generic cascades60
9.8RASA1, NF1, HRAS
39.8RASA1, NF1, HRAS
49.8HRAS, RASA1, PTPN11
5
Show member pathways
Insulin Pathway38
9.8HRAS, RASA1, PTPN11
6
Show member pathways
EPO Receptor Signaling38
EPO signaling pathway38
9.8PTPN11, RASA1, HRAS
7
Show member pathways
IL-2 Signaling pathway38
9.8PTPN11, RASA1, HRAS
89.7PDGFRA, CREB1, NF1
9
Show member pathways
Development Flt3 signaling60
9.7PTPN11, CREB1, HRAS
109.7PTPN11, CREB1, HRAS
119.7PTPN11, CREB1, HRAS
129.7RET, RASA1, HRAS
13
Show member pathways
9.7HRAS, KRAS, PTPN11
14
Show member pathways
9.7PTPN11, KRAS, HRAS
159.7PTPN11, KRAS, HRAS
169.6HRAS, NF1, NF2, PDGFRA
179.6RET, KRAS, HRAS
18
Show member pathways
Signaling events mediated by Stem cell factor receptor (c-Kit)38
9.6SPRED1, PTPN11, RASA1, HRAS
19
Show member pathways
9.5HRAS, KRAS, CREB1
20
Show member pathways
9.5CREB1, KRAS, HRAS
21
Show member pathways
IL23-mediated signaling events38
Immune response IL 10 signaling pathway60
Angiopoietin receptor Tie2-mediated signaling38
Development PDGF signaling via STATs and NF kB60
Development Angiopoietin Tie2 signaling60
9.5PTPN11, PDGFRA, RASA1, HRAS
22
Show member pathways
VEGFR1 specific signals38
9.5PTPN11, VHL, RASA1, HRAS
239.4RET, VHL, CREB1, NF2
249.4PTPN11, VHL, KRAS, HRAS
25
Show member pathways
Development ERBB family signaling60
Development GDNF family signaling60
9.3RET, CREB1, RASA1, HRAS
26
Show member pathways
Prolactin Signaling Pathway38
Development Prolactin receptor signaling60
Leptin signaling pathway38
9.3HRAS, KRAS, CREB1, PTPN11
27
Show member pathways
IL-9 Signaling Pathway38
Development Thrombopoietin regulated cell processes60
IL-7 Signaling Pathway38
Immune response IL 9 signaling pathway60
9.3HRAS, KRAS, CREB1, PTPN11
28
Show member pathways
MAPK Cascade38
Immune response Oncostatin M signaling via MAPK in human cells60
Oncostatin M Signaling Pathway38
9.3PTPN11, CREB1, KRAS, HRAS
299.3PTPN11, CREB1, KRAS, HRAS
30
Show member pathways
9.3RET, PDGFRA, KRAS, HRAS
319.3HRAS, KRAS, CREB1, PDGFRA
32
Show member pathways
G protein signaling M RAS regulation pathway60
9.2NF1, RASA2, RASA1
33
Show member pathways
Transcription Receptor mediated HIF regulation60
Development CNTF receptor signaling60
Class IB PI3K non-lipid kinase events38
ErbB2/ErbB3 signaling events38
Development Growth hormone signaling via PI3K AKT and MAPK cascades60
Translation Regulation activity of EIF260
Regulation of lipid metabolism Insulin signaling generic cascades60
Transcription PPAR Pathway60
Cell adhesion PLAU signaling60
Translation Regulation activity of EIF4F60
9.2PTPN11, PDGFRA, NF2, KRAS, HRAS
349.1HRAS, RASA1, CREB1, RET, PTPN11
35
Show member pathways
Signaling Pathways in Glioblastoma38
9.1PDGFRA, CREB1, NF1, KRAS, HRAS
36
Show member pathways
BCR signaling pathway38
TCR Signaling Pathway38
9.1HRAS, KRAS, RASA1, CREB1, PTPN11
379.1PTPN11, CREB1, RASA1, KRAS, HRAS
38
Show member pathways
Immune response BCR pathway60
Fc-epsilon receptor I signaling in mast cells38
9.1PTPN11, CREB1, RASA1, KRAS, HRAS
39
Show member pathways
9.1PTPN11, PDGFRA, CREB1, KRAS, HRAS
40
Show member pathways
9.1PTPN11, PDGFRA, CREB1, KRAS, HRAS
419.0HRAS, KRAS, PDGFRA, VHL, RET
42
Show member pathways
8.9VHL, PDGFRA, CREB1, RASA1, NF1, HRAS
43
Show member pathways
Development EGFR signaling via PIP360
Development PDGF signaling via MAPK cascades60
Apoptosis and survival Anti apoptotic action of membrane bound ESR160
Signaling of Hepatocyte Growth Factor Receptor38
Development EGFR signaling via small GTPases60
Development Neurotrophin family signaling60
Apoptosis and survival NGF signaling pathway60
Apoptosis and survival Role of CDK5 in neuronal death and survival60
8.8PTPN11, PDGFRA, CREB1, RASA1, KRAS, HRAS
44
Show member pathways
8.8PTPN11, VHL, PDGFRA, CREB1, KRAS, HRAS
458.7HRAS, KRAS, RASA2, CREB1
46
Show member pathways
Development EDNRB signaling60
Development ACM2 and ACM4 activation of ERK60
Cell adhesion Integrin inside out signaling60
Development G Proteins mediated regulation MARK ERK signaling60
Signal transduction IP3 signaling60
Development Angiotensin signaling via PYK260
Development EPO induced MAPK pathway60
8.5PDGFRA, CREB1, RASA2, KRAS, HRAS
47
Show member pathways
8.5PTPN11, PDGFRA, CREB1, RASA1, KRAS, HRAS
48
Show member pathways
8.5OMG, PTPN11, PDGFRA, CREB1, RASA1, KRAS
49
Show member pathways
MAPK signaling pathway38
8.4PDGFRA, RASA1, RASA2, NF1, KRAS, HRAS
50
Show member pathways
8.2PTPN11, PDGFRA, RASA1, RASA2, NF1, KRAS

Compounds for genes affiliated with Neurofibromatosis

About this section
Sources:
24HMDB, 45Novoseek, 11DrugBank, 51PharmGKB, 61Tocris Bioscience, 29IUPHAR
See all sources

Compounds related to Neurofibromatosis according to GeneCards/GeneDecks:

(show all 44)
idCompoundScoreTop Affiliating Genes
1Fumaric acid2410.3SDHB, SDHD
23-nitropropionic acid4510.2SDHB, CREB1
3fumarate45 1111.1SDHB, SDHD, VHL
4guanosine45 24 1112.1HRAS, NF1, RASA1
5mibg4510.0SDHD, SDHB
6sunitinib45 51 1112.0PDGFRA, VHL, RET
7regorafenib51 1110.9RET, PDGFRA, KRAS
8catecholamine459.9RET, SDHD, SDHB
9methionine459.8HRAS, NF1, RET, PTPN11
10herbimycin a45 6110.7PTPN11, RET, CREB1, HRAS
11imatinib45 51 1111.7KRAS, PDGFRA, RET, PTPN11
12succinate459.7SDHB, SDHD, RET, VHL, NF1
13glycogen45 2410.6SDHB, PTPN11, VHL, CREB1
14ponatinib51 1110.6PDGFRA, RET
15agar459.6NF2, CREB1, RET, PTPN11, HRAS
16phosphoinositide459.5HRAS, KRAS, CREB1, PTPN11
17aspartate459.4HRAS, PDGFRA, RET, SDHB
18wortmannin459.4HRAS, KRAS, CREB1, RET, PTPN11
19arginine459.4SDHB, PTPN11, RET, RASA1, NF1, HRAS
20h2o2459.4SDHB, PTPN11, CREB1, KRAS, HRAS
21alanine459.4SDHB, PTPN11, RET, RASA1, NF1
22paraffin459.4RET, PDGFRA, NF2, NF1, KRAS, HRAS
23dopamine45 29 24 1112.3SDHB, RET, CREB1, NF1
24threonine459.3PTPN11, RET, CREB1, NF2, HRAS
25gdp459.3RASA1, RASA2, NF1, HRAS
26oxygen45 2410.2SDHB, SDHD, PTPN11, VHL, KRAS, HRAS
27cysteine459.2SDHB, PTPN11, RET, CREB1, NF2, NF1
28ly294002459.2PTPN11, RET, VHL, CREB1, KRAS, HRAS
29guanine45 24 1111.2HRAS, RASA2, RASA1, CREB1
30estrogen459.1VHL, PDGFRA, CREB1, NF1, KRAS, HRAS
31retinoic acid45 2410.1RET, PDGFRA, CREB1, NF1, KRAS, HRAS
32atp45 2910.1SDHB, PTPN11, RET, PDGFRA, CREB1, NF1
33arachidonic acid45 29 24 1112.1HRAS, NF1, RASA2, RASA1
34phenylalanine459.0PTPN11, RET, RASA1, RASA2, HRAS
35gtp45 2910.0RASA1, RASA2, NF1, KRAS, HRAS
36rapamycin458.9PTPN11, VHL, PDGFRA, CREB1, NF2, NF1
37phosphotyrosine458.8PTPN11, RET, PDGFRA, RASA1, RASA2, HRAS
38oligonucleotide458.7PTPN11, RET, VHL, PDGFRA, CREB1, NF1
39vegf458.7SDHB, PTPN11, RET, VHL, PDGFRA, CREB1
40serine458.5PTPN11, RET, VHL, CREB1, RASA1, NF2
41lipid457.8SDHB, PTPN11, APOBEC1, RET, CREB1, RASA2
42calcium45 51 24 1110.8SDHB, PTPN11, RET, VHL, PDGFRA, CREB1
43phosphatidylinositol457.7HRAS, PTPN11, RET, VHL, PDGFRA, CREB1
44tyrosine457.3PDGFRA, VHL, RET, PTPN11, SDHB, CREB1

GO Terms for genes affiliated with Neurofibromatosis

About this section
Sources:
16Gene Ontology
See all sources

Cellular components related to Neurofibromatosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1mitochondrial respiratory chain complex IIGO:00574910.0SDHD, SDHB
2intrinsic component of the cytoplasmic side of the plasma membraneGO:0312359.1NF1, RASA2, RASA1
3cytoplasmGO:0057376.8SPRED1, PTPN11, APOBEC1, RNF135, PDGFRA, CRLF3

Biological processes related to Neurofibromatosis according to GeneCards/GeneDecks:

(show all 29)
idNameGO IDScoreTop Affiliating Genes
1negative regulation of MAPK cascadeGO:04340910.3NF1, NF2
2negative regulation of cell-matrix adhesionGO:00195310.2RASA1, NF2, NF1
3positive regulation of hormone secretionGO:04688710.2CREB1, PTPN11
4positive regulation of extrinsic apoptotic signaling pathway in absence of ligandGO:200124110.2NF1, RET
5positive regulation of Rac protein signal transductionGO:03502210.2KRAS, HRAS
6striated muscle cell differentiationGO:05114610.1KRAS, HRAS
7regulation of synaptic transmission, GABAergicGO:03222810.1HRAS, KRAS, NF1
8adrenal gland developmentGO:03032510.0PDGFRA, NF1
9regulation of long-term neuronal synaptic plasticityGO:04816910.0NF1, KRAS, HRAS
10visual learningGO:00854210.0HRAS, KRAS, NF1
11Ras protein signal transductionGO:00726510.0HRAS, KRAS, NF1
12leukocyte migrationGO:0509009.9PTPN11, KRAS, HRAS
13actin cytoskeleton organizationGO:0300369.8NF2, NF1, KRAS, HRAS
14phosphatidylinositol-mediated signalingGO:0480159.8PTPN11, PDGFRA, CREB1
15positive regulation of cell migrationGO:0303359.8HRAS, PDGFRA, RET
16negative regulation of neuron apoptotic processGO:0435249.8RASA1, KRAS, HRAS
17MAPK cascadeGO:0001659.7HRAS, KRAS, NF1, RET
18insulin receptor signaling pathwayGO:0082869.7HRAS, KRAS, PTPN11
19axon guidanceGO:0074119.6HRAS, KRAS, CREB1, PTPN11
20positive regulation of Ras GTPase activityGO:0323209.6NF1, RASA2, RASA1
21negative regulation of Ras protein signal transductionGO:0465809.6RASA1, RASA2, NF1
22regulation of axonogenesisGO:0507709.5OMG, RET
23fibroblast growth factor receptor signaling pathwayGO:0085439.5PTPN11, PDGFRA, CREB1, KRAS, HRAS
24Fc-epsilon receptor signaling pathwayGO:0380959.4PTPN11, PDGFRA, CREB1, KRAS, HRAS
25epidermal growth factor receptor signaling pathwayGO:0071739.4HRAS, KRAS, CREB1, PDGFRA, PTPN11
26innate immune responseGO:0450879.2HRAS, KRAS, CREB1, PDGFRA, RNF135, PTPN11
27positive regulation of transcription, DNA-templatedGO:0458939.1CREB1, CRLF3, VHL, RET
28neurotrophin TRK receptor signaling pathwayGO:0480119.1HRAS, OMG, PTPN11, PDGFRA, CREB1, KRAS
29signal transductionGO:0071658.4HRAS, RASA2, RASA1, CREB1, RET

Molecular functions related to Neurofibromatosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1ubiquinone bindingGO:04803910.0SDHD, SDHB
2Ras GTPase activator activityGO:0050998.9NF1, RASA2, RASA1
3protein bindingGO:0055156.7HRAS, SPRED1, SDHB, PTPN11, APOBEC1, RNF135

Products for genes affiliated with Neurofibromatosis

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Neurofibromatosis

About this section
4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet