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MCID: OPT007
MIFTS: 42

Optic Nerve Glioma

Categories: Cancer diseases, Eye diseases, Neuronal diseases
Genes Variations Tissues Related diseases Publications Pathways Drugs
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Aliases & Classifications for Optic Nerve Glioma

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MalaCards integrated aliases for Optic Nerve Glioma:

Name: Optic Nerve Glioma 12 6 43 15 71
Glioma of the Optic Nerve 12

Classifications:

MalaCards categories:
Global: Cancer diseases
Anatomical: Neuronal diseases Eye diseases
See all MalaCards categories (disease lists)


External Ids:

Disease Ontology 12 DOID:4992
MeSH 43 D020339
NCIt 49 C4537
SNOMED-CT 67 254976006
UMLS 71 C0346326
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Summaries for Optic Nerve Glioma

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MalaCards based summary : Optic Nerve Glioma, also known as glioma of the optic nerve, is related to neurofibromatosis and spinal meningioma. An important gene associated with Optic Nerve Glioma is NF1 (Neurofibromin 1), and among its related pathways/superpathways are Neuroscience and Oncogenic MAPK signaling. The drugs Doxorubicin and Etoposide have been mentioned in the context of this disorder. Affiliated tissues include brain, eye and cerebellum, and related phenotypes are Decreased cell migration and behavior/neurological

Wikipedia : 74 Optic nerve glioma (or optic glioma), a form of glioma which affects the optic nerve, is often one of... more...

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Related Diseases for Optic Nerve Glioma

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Diseases related to Optic Nerve Glioma via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 286)
# Related Disease Score Top Affiliating Genes
1 neurofibromatosis 31.0 RASA2 NF2 NF1
2 spinal meningioma 30.7 NF2 NF1
3 optic nerve sheath meningioma 30.3 NF2 NF1
4 secretory meningioma 30.2 VIM NF2 MUC1
5 fibrillary astrocytoma 29.9 NF1 KIAA1549 GFAP
6 cerebellar astrocytoma 29.9 NF1 KIAA1549
7 juvenile pilocytic astrocytoma 29.7 S100B NF1 NES KIAA1549 GFAP
8 pilomyxoid astrocytoma 29.6 NF1 KIAA1549 GFAP
9 plexiform neurofibroma 29.6 S100B NF2 NF1 FABP7
10 neurofibromatosis, type i 29.6 S100B RASA2 NF2 NF1
11 chondrosarcoma 29.6 VIM S100B MUC1 ENO2
12 meningioma, radiation-induced 29.5 VIM S100B NF2 MUC1 GFAP
13 grade iii astrocytoma 29.4 NF1 NES KIAA1549 GFAP
14 meningioma, familial 29.3 NF2 NF1 KIAA1549 GFAP ENO2
15 oligodendroglioma 29.1 VIM S100B NF1 MBP GFAP ENO2
16 chordoid meningioma 29.0 VIM S100B NF2 MUC1 GFAP
17 neuroma 29.0 S100B NF2 NF1 MUC1 GFAP ENO2
18 ganglioglioma 28.7 S100B NF1 NES KIAA1549 GFAP ENO2
19 neurofibroma 28.5 VIM S100B RASA2 NF2 NF1 MUC1
20 optic nerve neoplasm 28.2 SCARNA20 RASA2 NF2 NF1 KIAA1549
21 neurilemmoma 27.8 VIM S100B NF2 NF1 NES MUC1
22 childhood optic nerve glioma 12.7
23 neurofibromatosis-noonan syndrome 11.4
24 glioma 11.0
25 glial tumor 11.0
26 exophthalmos 10.5
27 astrocytoma 10.5
28 anaplastic ganglioglioma 10.5 NES GFAP
29 central nervous system immature teratoma 10.5 NES GFAP
30 pacinian tumor 10.5 NF1 ENO2
31 hydrocephalus due to congenital stenosis of aqueduct of sylvius 10.5 NES MBP
32 optic nerve astrocytoma 10.4 NF1 ENO2
33 cerebral neuroblastoma 10.4 GFAP ENO2
34 skin granular cell tumor 10.4 NF1 ENO2
35 cerebellopontine angle primitive neuroectodermal tumor 10.4 GFAP ENO2
36 neonatal hypoxic and ischemic brain injury 10.4 MBP ENO2
37 pilomatrix carcinoma 10.4 MUC1 ENO2
38 sinonasal undifferentiated carcinoma 10.4 MUC1 ENO2
39 endobronchial leiomyoma 10.4 GFAP ENO2
40 bile duct mucinous adenocarcinoma 10.4 MUC1 ENO2
41 chiari malformation 10.4 MBP GFAP
42 spindle cell thymoma 10.4 MUC1 ENO2
43 middle ear adenoma 10.4 MUC1 ENO2
44 cerebrovascular benign neoplasm 10.4 GFAP ENO2
45 olfactory nerve neoplasm 10.4 GFAP ENO2
46 cranial nerve malignant neoplasm 10.4 GFAP ENO2
47 head injury 10.4 S100B ENO2
48 cerebellar medulloblastoma 10.4 GFAP ENO2
49 pineal gland cancer 10.4 GFAP ENO2
50 sclerosing perineurioma 10.3 S100B MUC1

Graphical network of the top 20 diseases related to Optic Nerve Glioma:



Diseases related to Optic Nerve Glioma
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Symptoms & Phenotypes for Optic Nerve Glioma

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GenomeRNAi Phenotypes related to Optic Nerve Glioma according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased cell migration GR00055-A-1 8.62 NF2 VIM

MGI Mouse Phenotypes related to Optic Nerve Glioma:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.28 ENO2 FABP7 GFAP KIAA1549 MBP NF1
Sources

Drugs & Therapeutics for Optic Nerve Glioma

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Drugs for Optic Nerve Glioma (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 47)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Doxorubicin Approved, Investigational Phase 2 23214-92-8 31703
2
Etoposide Approved Phase 2 33419-42-0 36462
3
Peginterferon alfa-2b Approved Phase 2 99210-65-8, 215647-85-1
4
Vincristine Approved, Investigational Phase 1, Phase 2 57-22-7, 2068-78-2 5978
5
Sodium citrate Approved, Investigational Phase 1, Phase 2 68-04-2
6
Mebendazole Approved, Vet_approved Phase 1, Phase 2 31431-39-7 4030
7
Irinotecan Approved, Investigational Phase 1, Phase 2 97682-44-5, 100286-90-6 60838
8
Piperazine Approved, Vet_approved Phase 1, Phase 2 110-85-0 4837
9
Bevacizumab Approved, Investigational Phase 1, Phase 2 216974-75-3
10
Trioxsalen Approved Phase 2 3902-71-4 5585
11
Citric acid Approved, Nutraceutical, Vet_approved Phase 1, Phase 2 77-92-9 311
12 Etoposide phosphate Phase 2
13
Liposomal doxorubicin Phase 2 31703
14 Anti-Bacterial Agents Phase 2
15 Antibiotics, Antitubercular Phase 2
16 Interferon alpha-2 Phase 2
17 interferons Phase 2
18 Antiviral Agents Phase 2
19 Interferon-alpha Phase 2
20 Immunologic Factors Phase 2
21 Anti-Infective Agents Phase 2
22 Anthelmintics Phase 1, Phase 2
23 Citrate Phase 1, Phase 2
24 Tubulin Modulators Phase 1, Phase 2
25 Angiogenesis Inhibitors Phase 1, Phase 2
26 DMP 777 Phase 1, Phase 2 157341-41-8
27 Antiparasitic Agents Phase 1, Phase 2
28 Anticonvulsants Phase 1, Phase 2
29 Piperazine citrate Phase 1, Phase 2
30 Antimitotic Agents Phase 1, Phase 2
31 Antineoplastic Agents, Immunological Phase 1, Phase 2
32 topoisomerase I inhibitors Phase 1, Phase 2
33 Photosensitizing Agents Phase 2
34 Dihematoporphyrin Ether Phase 2
35 Dermatologic Agents Phase 2
36 Hematoporphyrin Derivative Phase 2
37 Ether Phase 2
38 Pharmaceutical Solutions Phase 2
39
Entinostat Investigational Phase 1 209783-80-2
40 Histone Deacetylase Inhibitors Phase 1
41
Dopamine Approved 51-61-6, 62-31-7 681
42
Tyrosine Approved, Investigational, Nutraceutical 60-18-4 6057
43 Fluorodeoxyglucose F18
44 Fluorides
45 Neurotransmitter Agents
46 Dihydroxyphenylalanine
47 Dopamine Agents

Interventional clinical trials:

(show all 17)
# Name Status NCT ID Phase Drugs
1 A Randomized Phase 3 Study of Antineoplastons A10 and AS2-1 vs. Temozolomide in Subjects With Recurrent and / or Progressive Optic Pathway Glioma After Carboplatin or Cisplatin Therapy Withdrawn NCT01260103 Phase 3 Temozolomide;ANP Therapy
2 Phase II Study of Antineoplastons A10 and AS2-1 Infusions in Children With Visual Pathway Glioma Completed NCT00003477 Phase 2 Antineoplaston therapy (Atengenal + Astugenal)
3 A Pilot Study of Using MRI-Guided Laser Heat Ablation to Induce Disruption of the Peritumoral Blood Brain Barrier to Enhance Delivery and Efficacy of Treatment of Pediatric Brain Tumors Recruiting NCT02372409 Phase 2 Doxorubicin;Etoposide
4 Pilot Study of the MEK1/2 Inhibitor Selumetinib (AZD6244 Hydrogen Sulfate) for Adults With Neurofibromatosis Type 1 (NF1) and Cutaneous Neurofibromas (CNF) Recruiting NCT02839720 Phase 2 Selumetinib;Selumetinib Sulfate
5 A Phase II Study Of Pegylated Interferon ALFA-2b in Children With Recurrent or Refractory and Radiographically or Clinically Progressive Juvenile Pilocytic Astrocytomas and Optic Pathway Gliomas Recruiting NCT02343224 Phase 2 Pegylated interferon alpha-2b
6 A Paediatric Phase I/II Study Of Intermittent Dosing Of The Mek-1 Inhibitor Selumetinib In Children With Neurofibromatosis Type-1 And Inoperable Plexiform Neurofibroma And/Or Progressive Optic Pathway Glioma Recruiting NCT03326388 Phase 1, Phase 2 Selumetinib
7 A Phase I Study of Mebendazole for the Treatment of Pediatric Gliomas Recruiting NCT01837862 Phase 1, Phase 2 Mebendazole;Vincristine;Carboplatin;Temozolomide;Bevacizumab;Irinotecan
8 A Phase 1 and Phase II and Re-Treatment Study of AZD6244 for Recurrent or Refractory Pediatric Low Grade Glioma Recruiting NCT01089101 Phase 1, Phase 2 Selumetinib
9 A Phase II Study of Photodynamic Therapy (PDT) With Photofrin® (IND 104,613) For Recurrent High Grade Gliomas in Adults Terminated NCT01966809 Phase 2 Photofrin photodynamic therapy.
10 Photodynamic Therapy (PDT) for Poor Prognosis Recurrent/Refractory Malignant Brain Tumors - A Phase I Study Completed NCT01682746 Phase 1 Photofrin (porfimer sodium) & photodynamic therapy.
11 A Phase 1 Study of Entinostat, an Oral Histone Deacetylase Inhibitor, in Pediatric Patients With Recurrent or Refractory Solid Tumors, Including CNS Tumors and Lymphoma Active, not recruiting NCT02780804 Phase 1 Entinostat
12 Establishing Continuous Cell Lines and Xenografts From Pediatric Cancers for Biological and Pre-Clinical Therapeutic Studies Completed NCT00898755
13 Natural History Study and Longitudinal Assessment of Children, Adolescents, and Adults With Neurofibromatosis Type 1 Recruiting NCT00924196
14 Pilot Study of [18F] Fluorodeoxyglucose Positron Emission Tomography- Magnetic Resonance Imaging (FDG-PET-MRI) in CNS and Extra-CNS Tumors of Patients With Neurofibromatosis-1 (NF1) Active, not recruiting NCT01800032
15 18F-FDOPA PET/CT or PET/MRI in Patients With Gliomas Terminated NCT02175745 18F-fluoro-dihydroxyphenylalanine
16 Feasibility of Autologous Stem Cell Collection and Reinfusion in Newly Diagnosed High Grade Gliomas Withdrawn NCT02976441 Early Phase 1 Temozolomide
17 Efficacy of 68Ga-DOTATOC Positron Emission Tomography (PET) CT in Children and Young Adults With Brain Tumors Withdrawn NCT02194452

Search NIH Clinical Center for Optic Nerve Glioma

Cochrane evidence based reviews: optic nerve glioma

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Genetic Tests for Optic Nerve Glioma

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Anatomical Context for Optic Nerve Glioma

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MalaCards organs/tissues related to Optic Nerve Glioma:

40
Brain, Eye, Cerebellum, Retina, Colon, Testes
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Publications for Optic Nerve Glioma

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Articles related to Optic Nerve Glioma:

(show top 50) (show all 298)
# Title Authors PMID Year
1
Microcystic Macular Edema in Optic Nerve Glioma. 61
32564817 2020
2
Visual field fluctuations correlating with the menstrual cycle in a patient with optic pathway glioma. 61
32269049 2020
3
Acute angle plication of optic nerve glioma as a mechanism of rapidly progressive visual loss. 61
32093512 2020
4
En-Bloc Resection Versus Resection After Evacuation and Suction of the Content for Orbital Optic Nerve Glioma Causing Visual Loss and Disfiguring Proptosis. 61
31917767 2020
5
SETD2 Mutation in an Aggressive Optic Nerve Glioma. 61
31697302 2019
6
Visual impairment in children with a brain tumor: a prospective nationwide multicenter study using standard visual testing and optical coherence tomography (CCISS study). 61
31706271 2019
7
Neurofibromatosis type 1 with tarsal conjunctiva thickening: A case report. 61
31374061 2019
8
Neurofibromatosis Type 1: A Population-Based Study. 61
31322715 2019
9
Craniofacial Approaches to Pediatric Orbital Tumors. 61
30865111 2019
10
A giant dermoid cyst of the orbit. 61
29589985 2019
11
Neurofibromatosis Type 1: Description of a Novel Diagnostic Scoring System in Pediatric Optic Nerve Glioma. 61
30741560 2019
12
Optic Nerve Glioma in Two Sisters with Family History of Neurofibromatosis Type 1. 61
29294511 2018
13
Isolated Optic Nerve Glioma in Children With and Without Neurofibromatosis: Retrospective Characterization and Analysis of Outcomes. 61
29502465 2018
14
Progressive optic nerve glioma: orbital biopsy technique using a surgical navigation system. 61
29426453 2018
15
Lateral canthotomy orbitotomy: a rapid approach to the orbit. 61
28862259 2018
16
Transtentorial dissemination of optic nerve glioblastoma: case report. 61
28298017 2018
17
Neurological comorbidity in children with neurofibromatosis type 1. 61
28796925 2018
18
Isolated optic nerve gliomas: a multicenter historical cohort study. 61
28984541 2017
19
Morning glory disc anomaly with an ipsilateral enlargement of the optic nerve pathway. 61
28666648 2017
20
Childhood Optic Nerve Glioma: Vision Loss Due to Biopsy. 61
27046034 2017
21
Increased Tissue Stiffness in Tumors from Mice with Neurofibromatosis-1 Optic Glioma. 61
28445745 2017
22
Revascularization in a 17-Year-Old Girl with Neurofibromatosis and Severe Hypertension Caused by Renal Artery Stenosis. 61
28265213 2017
23
Prechiasmatic transection of the optic nerve in optic nerve glioma: technical description and surgical outcome. 61
27230830 2017
24
Optic nerve glioma with complete intraocular extension. 61
27830210 2016
25
Management of a blinding orbital apex cyst in a 14-year-old girl. 61
27397963 2016
26
Orbital tumours and tumour-like lesions: exploring the armamentarium of multiparametric imaging. 61
26518678 2016
27
Neurofibromatosis: an update of ophthalmic characteristics and applications of optical coherence tomography. 61
27257370 2016
28
Are the methylenetetrahydrofolate reductase 1298 and 677 gene polymorphisms related to optic glioma and hamartoma risk in neurofibromatosis type 1 patients? 61
27976555 2016
29
[Chiasm and optic nerve glioma manifested as hemorrhage (two clinical cases and a literature review)]. 61
28635693 2016
30
Optic disc drusen associated with optic nerve tumors. 61
25811268 2015
31
Teaching neuroimages: optic nerve glioma with perineural arachnoid gliomatosis in a patient with neurofibromatosis-1. 61
25825471 2015
32
[Apropos of 5 cases of optic nerve tumors diagnosed during a 6-year-period]. 61
25542442 2015
33
ISCHEMIC RETINOPATHY IN NEUROFIBROMATOSIS TYPE 1. 61
26252734 2015
34
[Clinical feature of chronic compressive optic neuropathy without optic atrophy]. 61
25619179 2014
35
Optic nerve glioma: case series with review of clinical, radiologic, molecular, and histopathologic characteristics. 61
24762952 2014
36
Optic nerve glioma: an update. 61
24736941 2014
37
Anisometropia in children with neurofibromatosis type 1 and unilateral optic nerve glioma. 61
24924279 2014
38
Long-term visual outcomes in patients with orbitotemporal neurofibromatosis. 61
23926960 2014
39
Concomitant meningioma and glioma within the same optic nerve in neurofibromatosis type 1. 61
23420652 2014
40
[Optic nerve glioma revealed a divergent strabismus]. 61
25309656 2014
41
Optic nerve glioma: A great mimicker. 61
24575324 2014
42
Aggressive Low-Grade Optic Nerve Glioma in Adults. 61
27928317 2014
43
An 80-year experience with optic nerve glioma cases at the Armed Forces Institute of Pathology: evolution from museum to molecular evaluation suggests possibe interventions in the cellular senescence and microglial pathways (an American Ophthalmological Society thesis). 61
25411512 2014
44
Phase I study of bevacizumab plus irinotecan in pediatric patients with recurrent/refractory solid tumors. 61
24002900 2013
45
Accuracy of MRI in defining tumor-free margin in optic nerve glioma surgery. 61
23715516 2013
46
Optic nerve glioma treatment with fractionated stereotactic radiotherapy. 61
23495806 2013
47
Fractionated stereotactic radiotherapy using Novalis for confined intra-orbital optic nerve glioma in pediatric patient. 61
23338672 2013
48
Surgical management of an optic nerve glioma with perineural arachnoidal gliomatosis growth pattern. 61
23149617 2013
49
Malignancies in Chinese patients with neurofibromatosis type 1. 61
23378354 2013
50
Clustering of mutations in the 5' tertile of the NF1 gene in Slovakia patients with optic pathway glioma. 61
23906300 2013
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Variations for Optic Nerve Glioma

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ClinVar genetic disease variations for Optic Nerve Glioma:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 NF1 NM_000267.3(NF1):c.4514+1G>ASNV Pathogenic 439997 rs1279529138 17:29587534-29587534 17:31260516-31260516
2 NF1 NM_001042492.2(NF1):c.2351_2352delinsC (p.Trp784fs)indel Pathogenic 590843 rs1567848147 17:29554566-29554567 17:31227548-31227549
3 NF1 NM_001042492.3(NF1):c.4330A>G (p.Lys1444Glu)SNV Pathogenic 336 rs137854550 17:29585518-29585518 17:31258500-31258500
4 NF1 NM_000267.3(NF1):c.2041C>T (p.Arg681Ter)SNV Pathogenic 188280 rs768638173 17:29553492-29553492 17:31226474-31226474
5 NF1 NM_000267.3(NF1):c.1721+3A>GSNV Pathogenic 374108 rs1057518904 17:29548950-29548950 17:31221932-31221932

Cosmic variations for Optic Nerve Glioma:

9
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)		 Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM150563774 BRAF central nervous system,optic nerve,glioma,NS c.1799T>A p.V600E 7:140753336-140753336 3
2 COSM149385292 central nervous system,optic nerve,glioma,NS c.1919T>A p.V640E 7:140753336-140753336 3
3 COSM118787231 central nervous system,optic nerve,glioma,NS c.1799T>A p.V600E 7:140753336-140753336 3
4 COSM88803061 central nervous system,optic nerve,glioma,NS c.1919T>A p.V640E 7:140753336-140753336 3
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Expression for Optic Nerve Glioma

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Search GEO for disease gene expression data for Optic Nerve Glioma.
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Pathways for Optic Nerve Glioma

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Pathways related to Optic Nerve Glioma according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Neuroscience 4
11.7 S100B NF2 NF1 MBP GFAP FABP7
2
Oncogenic MAPK signaling 65
Show member pathways
 11.63 RASA2 NF1 KIAA1549
3
Spinal Cord Injury 1
11.51 VIM MBP GFAP
4
Cytoskeleton remodeling Neurofilaments 22
Show member pathways
 11.37 VIM NES GFAP
5
Neural Stem Cells and Lineage-specific Markers 64
11.25 VIM S100B NES GFAP FABP7
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GO Terms for Optic Nerve Glioma

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Cellular components related to Optic Nerve Glioma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 neuronal cell body GO:0043025 9.46 S100B MBP FABP7 ENO2
2 cell body GO:0044297 9.13 NF2 GFAP FABP7
3 intermediate filament cytoskeleton GO:0045111 8.8 VIM NES GFAP

Biological processes related to Optic Nerve Glioma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 central nervous system development GO:0007417 9.5 S100B NES MBP
2 negative regulation of Ras protein signal transduction GO:0046580 9.4 RASA2 NF1
3 negative regulation of cell-matrix adhesion GO:0001953 9.37 NF2 NF1
4 intermediate filament organization GO:0045109 9.26 VIM GFAP
5 astrocyte development GO:0014002 9.16 VIM GFAP
6 Bergmann glial cell differentiation GO:0060020 8.96 VIM GFAP
7 intermediate filament-based process GO:0045103 8.62 VIM GFAP
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Sources for Optic Nerve Glioma

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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