MCID: MNN029
MIFTS: 13

Meningioma, Nf2-Related, Somatic malady

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Summaries for Meningioma, Nf2-Related, Somatic

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MalaCards based summary: Meningioma, Nf2-Related, Somatic is related to meningioma and spinal meningioma. An important gene associated with Meningioma, Nf2-Related, Somatic is NF2 (neurofibromin 2 (merlin)). Related mouse phenotypes are craniofacial and tumorigenesis.

Description from OMIM:46 607174

Aliases & Classifications for Meningioma, Nf2-Related, Somatic

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Meningioma, Nf2-Related, Somatic, Aliases & Descriptions:

Name: Meningioma, Nf2-Related, Somatic 46


Related Diseases for Meningioma, Nf2-Related, Somatic

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Diseases related to Meningioma, Nf2-Related, Somatic via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1meningioma10.1NF2
2spinal meningioma10.0NF2, SMARCE1
3familial meningioma9.8SUFU, SMARCE1

Symptoms for Meningioma, Nf2-Related, Somatic

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Clinical features from OMIM:

607174

Drugs & Therapeutics for Meningioma, Nf2-Related, Somatic

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Drug clinical trials:

Search ClinicalTrials for Meningioma, Nf2-Related, Somatic

Search NIH Clinical Center for Meningioma, Nf2-Related, Somatic

Genetic Tests for Meningioma, Nf2-Related, Somatic

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Anatomical Context for Meningioma, Nf2-Related, Somatic

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Animal Models for Meningioma, Nf2-Related, Somatic or affiliated genes

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MGI Mouse Phenotypes related to Meningioma, Nf2-Related, Somatic:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053829.0NF2, SUFU
2MP:00020068.7NF2, SUFU
3MP:00107688.4NF2, SUFU, SMARCE1

Publications for Meningioma, Nf2-Related, Somatic

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Variations for Meningioma, Nf2-Related, Somatic

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Clinvar genetic disease variations for Meningioma, Nf2-Related, Somatic:

6
id Gene Name Type Significance SNP ID Assembly Location
1SUFUNM_016169.3(SUFU): c.367C> T (p.Arg123Cys)single nucleotide variantrisk factorrs202247756GRCh37Chr 10, 104309776: 104309776
2SMARCE1NM_003079.4(SMARCE1): c.715C> T (p.Arg239Ter)single nucleotide variantrisk factorrs397509405GRCh37Chr 17, 38787945: 38787945
3SMARCE1NM_003079.4(SMARCE1): c.237+2T> Csingle nucleotide variantrisk factorrs397509406GRCh37Chr 17, 38793742: 38793742
4SMARCE1NM_003079.4(SMARCE1): c.311G> A (p.Trp104Ter)single nucleotide variantrisk factorrs397509407GRCh37Chr 17, 38792705: 38792705
5SMARCE1NM_003079.4(SMARCE1): c.572dupC (p.Ala192Serfs)duplicationrisk factorrs397509408GRCh37Chr 17, 38788588: 38788589

Expression for genes affiliated with Meningioma, Nf2-Related, Somatic

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Expression patterns in normal tissues for genes affiliated with Meningioma, Nf2-Related, Somatic

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Pathways for genes affiliated with Meningioma, Nf2-Related, Somatic

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Compounds for genes affiliated with Meningioma, Nf2-Related, Somatic

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GO Terms for genes affiliated with Meningioma, Nf2-Related, Somatic

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Cellular components related to Meningioma, Nf2-Related, Somatic according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1nucleusGO:0056348.5NF2, SUFU, SMARCE1
2nucleolusGO:0057308.2NF2, SUFU, SMARCE1

Products for genes affiliated with Meningioma, Nf2-Related, Somatic

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  • Antibodies
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Sources for Meningioma, Nf2-Related, Somatic

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet