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Details
Link-It Detail - Disease - Neurofibromatosis 2
Debug Stats
  • ### Total Build Time: 197 ms 63.926 KB
  • CONCEPT_NAME gt=7 ms Completed: 7 ms rowSize= 336 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
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  • CONCEPT_GENES gt=18 ms Completed: 18 ms rowSize= 11.857 KB
  • CONCEPT_XREFS gt=2 ms Completed: 2 ms rowSize= 1.153 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
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Disease (1)
Neurofibromatosis 2 C0027832
Definition (1)
An autosomal dominant disorder caused by mutations in the NF2 tumor suppressor gene. It is characterized by the development of peripheral and central nervous system tumors including acoustic schwannomas, neurofibromas, gliomas, and meningiomas.
Semantic Types (1)
Neoplastic Process (T191)
Parents (2)
img Neuroma, Acoustic C0027859
img Neurofibromatoses C0162678
Ancestral Roots
RootRoot Plus OneDepthParent
img Neoplasms C0027651img Neoplasms by Histologic Type C00276528img Neuroma, Acoustic C0027859
img Nervous System Diseases C0027765img Neuromuscular Diseases C00278689img Neuroma, Acoustic C0027859
img Neoplasms C0027651img Neoplasms by Site C00276539img Neuroma, Acoustic C0027859
img Nervous System Diseases C0027765img Nervous System Neoplasms C00277668img Neuroma, Acoustic C0027859
img Nervous System Diseases C0027765img Neuromuscular Diseases C00278688img Neuroma, Acoustic C0027859
img Neoplasms C0027651img Neoplasms by Site C00276538img Neuroma, Acoustic C0027859
img Nervous System Diseases C0027765img Nervous System Neoplasms C00277667img Neuroma, Acoustic C0027859
img Neoplasms C0027651img Neoplasms by Histologic Type C00276527img Neuroma, Acoustic C0027859
img Neoplasms C0027651img Neoplasms by Site C00276536img Neuroma, Acoustic C0027859
img Otorhinolaryngologic Diseases C0029896img Otorhinolaryngologic Neoplasms C00298974img Neuroma, Acoustic C0027859
img Nervous System Diseases C0027765img Cranial Nerve Diseases C00102665img Neuroma, Acoustic C0027859
img Nervous System Diseases C0027765img Neuromuscular Diseases C00278687img Neuroma, Acoustic C0027859
img Neoplasms C0027651img Neoplasms by Site C00276537img Neuroma, Acoustic C0027859
img Nervous System Diseases C0027765img Nervous System Neoplasms C00277666img Neuroma, Acoustic C0027859
img Nervous System Diseases C0027765img Nervous System Neoplasms C00277665img Neuroma, Acoustic C0027859
img Otorhinolaryngologic Diseases C0029896img Ear Diseases C00134476img Neuroma, Acoustic C0027859
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Congenital Abnormalities C00007687img Neurofibromatoses C0162678
img Skin and Connective Tissue Diseases C0175166img Skin Diseases C00372747img Neurofibromatoses C0162678
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Genetic Diseases, Inborn C09501237img Neurofibromatoses C0162678
img Nervous System Diseases C0027765img Neurocutaneous Syndromes C02653164img Neurofibromatoses C0162678
img Nervous System Diseases C0027765img Neurodegenerative Diseases C05248515img Neurofibromatoses C0162678
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Genetic Diseases, Inborn C09501235img Neurofibromatoses C0162678
img Neoplasms C0027651img Neoplastic Syndromes, Hereditary C00276724img Neurofibromatoses C0162678
img Nervous System Diseases C0027765img Neuromuscular Diseases C00278688img Neurofibromatoses C0162678
img Neoplasms C0027651img Neoplasms by Site C00276538img Neurofibromatoses C0162678
img Nervous System Diseases C0027765img Nervous System Neoplasms C00277667img Neurofibromatoses C0162678
img Neoplasms C0027651img Neoplasms by Histologic Type C00276527img Neurofibromatoses C0162678
Relationships (42)

Relation Types:
diso_​to_​anat : 1
diso_​to_​chem : 3
diso_​to_​diso : 34
diso_​to_​gene : 2
diso_​to_​phen : 2


Relationships:
none : 18
alias_​of : 2
associated_​with : 1
classifies : 1
gene_​product_​malfunction_​associated_​with_​disease : 1
is_​finding_​of_​disease : 1
location_​of : 1
manifestation_​of : 11
mapped_​to : 2
may_​be_​associated_​disease_​of_​disease : 3
may_​be_​finding_​of_​disease : 1
Page Size
Current 25
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Current 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_PHEN77img genetic aspects C0017399
DISO_to_DISO65img Complication Aspects C1171258
DISO_to_PHEN64img genetic aspects C0017399
DISO_to_DISO47img Complication Aspects C1171258
DISO_to_DISO43img Acoustic Neuroma C0027859
DISO_to_DISO29img Acoustic Neuroma C0027859
DISO_to_DISO25img Neurilemmoma C0027809
DISO_to_DISO23img Neurilemmoma C0027809
DISO_to_DISO18img Neurofibromatosis 1 C0027831
DISO_to_GENE17img Genes, Neurofibromatosis 2 C0085114
DISO_to_DISO16img Neurofibromatosis 1 C0027831
DISO_to_CHEM15img Neurofibromin 2 C0254123
DISO_to_DISO13img Meningioma C0025286
DISO_to_CHEM11img Neurofibromin 2 C0254123
DISO_to_DISO11img Meningioma C0025286
DISO_to_GENE11img Genes, Neurofibromatosis 2 C0085114
DISO_to_DISO8img Central Nervous System Neoplasms C0085136
DISO_to_DISO8img Meningeal Neoplasms C0025284
DISO_to_ANATlocation_ofimg Acoustic Nerve C0001162
DISO_to_CHEMgene_product_malfunction_associated_with_diseaseimg Neurofibromin 2 C0254123
DISO_to_DISOalias_ofimg ACOUSTIC SCHWANNOMAS, BILATERAL C1136043
DISO_to_DISOmanifestation_ofimg Acoustic Neuroma C0027859
DISO_to_DISOmanifestation_ofimg Ataxia C0004134
DISO_to_DISOmanifestation_ofimg Caused by mutations in merlin (NF2, 101000.0001) C1863414
DISO_to_DISOmay_be_finding_of_diseaseimg Cerebral Calcification C0270685
Genes (8)

Species:
human : 7
mouse : 1
SpeciesGeneGeneIdGene NameEvidence
MouseNF24771neurofibromin 2 (merlin)
img NCI, Score=801, Pubmed Id: 10887156, UMLKSK CUI: C0027832
img NCI, Score=801, Pubmed Id: 10887156, UMLKSK CUI: C0027832
HumanIL23A51561interleukin 23, alpha subunit p19
img NCI, Score=801, Pubmed Id: 12352662, UMLKSK CUI: C0027832
HumanSCG27857secretogranin II
img NCI, Score=801, Pubmed Id: 15371954, UMLKSK CUI: C0027832
HumanEZR7430ezrin
img NCI, Score=801, Pubmed Id: 8012352, UMLKSK CUI: C0027832
img NCI, Score=801, Pubmed Id: 9748471, UMLKSK CUI: C0027832
img NCI, Score=801, Pubmed Id: 16532029, UMLKSK CUI: C0027832
HumanSYP6855synaptophysin
img NCI, Score=801, Pubmed Id: 15371954, UMLKSK CUI: C0027832
HumanNF24771neurofibromin 2 (merlin)
Click here to display 51 evidence detail records.
HumanMAP3K114296mitogen-activated protein kinase kinase kinase 11
img NCI, Score=801, Pubmed Id: 16537381, UMLKSK CUI: C0027832
HumanCHGB1114chromogranin B (secretogranin 1)
img NCI, Score=801, Pubmed Id: 15371954, UMLKSK CUI: C0027832
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0027832Neurofibromatosis 20self