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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:meningioma
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Accession:DOID:3565 term browser browse the term
Definition:A central nervous system cancer that are manifested in the central nervous system and arise from the arachnoid cap cells of the arachnoid villi in the meninges. (DO)
Synonyms:exact_synonym: Meningiomatosis;   meningiomas;   meningiomatoses;   meningothelial cell tumor;   multiple meningioma;   multiple meningiomas;   neoplasm of the meninges;   primary meningeal tumor
 primary_id: MESH:D008579
 xref: GARD:7015;   ICD10CM:D32.9;   NCI:C3230;   NCI:C6971;   ORDO:2495
For additional species annotation, visit the Alliance of Genome Resources.


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meningioma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Akt1 AKT serine/threonine kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23334667 NCBI chr 6:137,218,398...137,239,970
Ensembl chr 6:137,218,376...137,236,258
JBrowse link
G Alad aminolevulinate dehydratase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16140629 NCBI chr 5:78,368,867...78,379,206
Ensembl chr 5:78,368,867...78,379,346
JBrowse link
G Bap1 Brca1 associated protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25231345 NCBI chr16:7,336,685...7,345,511
Ensembl chr16:7,336,685...7,345,511
JBrowse link
G Cst3 cystatin C ISO CTD Direct Evidence: marker/mechanism CTD PMID:19747051 NCBI chr 3:143,219,671...143,223,544
Ensembl chr 3:143,219,686...143,223,615
JBrowse link
G Cstb cystatin B ISO CTD Direct Evidence: marker/mechanism CTD PMID:19747051 NCBI chr20:10,966,357...10,968,399
Ensembl chr20:10,966,331...10,968,432
JBrowse link
G Ctsl cathepsin L ISO CTD Direct Evidence: marker/mechanism CTD PMID:19747051 NCBI chr17:1,873,105...1,879,266
Ensembl chr17:1,872,848...1,879,279
JBrowse link
G Dnmt1 DNA methyltransferase 1 ISO ClinVar Annotator: match by term: Meningioma ClinVar NCBI chr 8:21,922,515...21,968,495
Ensembl chr 8:21,922,515...21,968,495
JBrowse link
G Epb41l3 erythrocyte membrane protein band 4.1-like 3 ISO RGD PMID:10888600 RGD:1300356 NCBI chr 9:117,314,935...117,666,408
Ensembl chr 9:117,538,009...117,666,410
JBrowse link
G Gstm3 glutathione S-transferase mu 3 ISO DNA: deletion: intron 6 RGD PMID:16598069 RGD:5688743 NCBI chr 2:210,685,204...210,688,273
Ensembl chr 2:210,685,197...210,688,272
JBrowse link
G Gstm5 glutathione S-transferase, mu 5 ISO DNA: deletion: intron 6 RGD PMID:16598069 RGD:5688743 NCBI chr 2:210,685,338...210,688,133
Ensembl chr 2:210,685,197...210,688,272
JBrowse link
G Hes1 hes family bHLH transcription factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21127729 NCBI chr11:74,312,837...74,315,249
Ensembl chr11:74,312,806...74,315,248
JBrowse link
G Hgf hepatocyte growth factor disease_progression ISO protein:increased expression:brain: RGD PMID:12115353 RGD:8548633 NCBI chr 4:15,435,460...15,505,377
Ensembl chr 4:15,433,295...15,505,362
JBrowse link
G Mllt10 MLLT10, histone lysine methyltransferase DOT1L cofactor ISO CTD Direct Evidence: marker/mechanism CTD PMID:21804547 NCBI chr17:84,847,660...84,981,134
Ensembl chr17:84,881,414...84,979,543
JBrowse link
G Mn1 MN1 proto-oncogene, transcriptional regulator ISO DNA:translocation RGD PMID:16398473, PMID:7731706 RGD:1624321, RGD:1600423 NCBI chr12:51,214,192...51,250,230
Ensembl chr12:51,214,192...51,250,230
JBrowse link
G Mtrr 5-methyltetrahydrofolate-homocysteine methyltransferase reductase susceptibility ISO DNA:SNP: :66A>G, (rs1801394) (human) RGD PMID:18483342 RGD:5508186 NCBI chr 1:37,743,089...37,774,485
Ensembl chr 1:37,743,147...37,774,015
JBrowse link
G Nf2 neurofibromin 2 ISO ClinVar Annotator: match by term: Meningioma
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by null
ClinVar
CTD
PMID:7868131 PMID:8162072 PMID:8379998 PMID:8882871 PMID:9718334 PMID:9884492 PMID:18033041 PMID:22711605 PMID:23334667 PMID:25741868 PMID:26073919 PMID:28492532, PMID:16398473 RGD:1624321 NCBI chr14:84,996,905...85,088,547
Ensembl chr14:84,996,905...85,088,523
JBrowse link
G Pdgfb platelet derived growth factor subunit B ISO ClinVar Annotator: match by null ClinVar PMID:2212004 PMID:3133569 PMID:3969118 NCBI chr 7:121,215,458...121,233,092
Ensembl chr 7:121,214,628...121,232,741
JBrowse link
G Pgr progesterone receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:8008172 PMID:19731987 PMID:19747051 NCBI chr 8:7,128,656...7,187,796
Ensembl chr 8:7,128,656...7,187,796
JBrowse link
G Pten phosphatase and tensin homolog ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Meningioma
CTD
ClinVar
PMID:12085208 PMID:23442912 PMID:25741868 PMID:27535533 PMID:28492532 NCBI chr 1:251,421,814...251,487,634
Ensembl chr 1:251,421,596...251,487,832
JBrowse link
G Smo smoothened, frizzled class receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:23334667 NCBI chr 4:57,019,941...57,041,779
Ensembl chr 4:57,019,941...57,042,770
JBrowse link
cavernous sinus meningioma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dhfr dihydrofolate reductase ISO ClinVar Annotator: match by term: Cavernous Sinus Meningioma ClinVar NCBI chr 2:21,931,887...21,958,927
Ensembl chr 2:21,931,493...21,962,453
JBrowse link
G Kmt2d lysine methyltransferase 2D ISO ClinVar Annotator: match by term: Cavernous Sinus Meningioma ClinVar NCBI chr 7:140,507,137...140,542,479
Ensembl chr 7:140,489,492...140,546,908
JBrowse link
G Msh3 mutS homolog 3 ISO ClinVar Annotator: match by term: Cavernous Sinus Meningioma ClinVar NCBI chr 2:21,790,048...21,931,791
Ensembl chr 2:21,790,044...21,931,720
JBrowse link
familial meningioma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mn1 MN1 proto-oncogene, transcriptional regulator susceptibility ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Meningioma, familial
OMIM
CTD
ClinVar
PMID:25741868 NCBI chr12:51,214,192...51,250,230
Ensembl chr12:51,214,192...51,250,230
JBrowse link
G Nf2 neurofibromin 2 susceptibility ISO ClinVar Annotator: match by term: Meningioma, familial
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:20553997 PMID:25741868 PMID:28492532 NCBI chr14:84,996,905...85,088,547
Ensembl chr14:84,996,905...85,088,523
JBrowse link
G Pdgfb platelet derived growth factor subunit B susceptibility ISO ClinVar Annotator: match by term: Meningioma, familial
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:25741868 NCBI chr 7:121,215,458...121,233,092
Ensembl chr 7:121,214,628...121,232,741
JBrowse link
G Pten phosphatase and tensin homolog susceptibility ISO ClinVar Annotator: match by term: Meningioma, familial
ClinVar Annotator: match by term: Meningioma, familial, susceptibility to
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:9399897 PMID:9425889 PMID:9467011 PMID:10232405 PMID:10353779 PMID:10400993 PMID:10468583 PMID:10555148 PMID:10749983 PMID:10848731 PMID:11685670 PMID:11939587 PMID:14518070 PMID:14566704 PMID:16014636 PMID:16773562 PMID:17392703 PMID:17526801 PMID:17898811 PMID:17942903 PMID:20600018 PMID:21194675 PMID:21659347 PMID:21828076 PMID:21956414 PMID:22381246 PMID:23442912 PMID:23470840 PMID:23475934 PMID:23695273 PMID:24033266 PMID:24052722 PMID:24375884 PMID:24778394 PMID:25022750 PMID:25132236 PMID:25157968 PMID:25326635 PMID:25525159 PMID:25669429 PMID:25741868 PMID:25756585 PMID:25875300 PMID:26468640 PMID:27477328 PMID:27531073 PMID:27959697 PMID:28492532 PMID:28526761 PMID:28677221 PMID:30287823 PMID:30311380 PMID:32238909 NCBI chr 1:251,421,814...251,487,634
Ensembl chr 1:251,421,596...251,487,832
JBrowse link
G Smarce1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 susceptibility ISO ClinVar Annotator: match by OMIM:607174
ClinVar Annotator: match by term: Meningioma, familial
CTD Direct Evidence: marker/mechanism
ClinVar
OMIM
CTD
PMID:9536098 PMID:17576681 PMID:22426308 PMID:23377182 PMID:25169753 PMID:25741868 PMID:28166811 PMID:28492532 NCBI chr10:87,116,827...87,138,890
Ensembl chr10:87,116,827...87,137,965
JBrowse link
G Sufu SUFU negative regulator of hedgehog signaling susceptibility ISO ClinVar Annotator: match by OMIM:607174
ClinVar Annotator: match by term: Meningioma, familial
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:22958902 PMID:25741868 NCBI chr 1:266,143,766...266,241,742
Ensembl chr 1:266,143,818...266,239,016
JBrowse link
meninges sarcoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tp53 tumor protein p53 IMP RGD PMID:27528400 RGD:12738450 NCBI chr10:56,186,299...56,198,449
Ensembl chr10:56,187,020...56,198,449
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16937
    disease of cellular proliferation 6909
      Neoplasms by Histologic Type 4446
        Nerve Tissue Neoplasms 661
          meningioma 27
            Gasserian ganglion meningioma 0
            Hunter-Macdonald Syndrome 0
            Radiation Induced Meningioma 0
            angiomatous meningioma 0
            benign meningioma 0
            bilateral meningioma of optic nerve 0
            brain meningioma + 0
            childhood meningioma + 0
            clear cell meningioma + 0
            ethmoid sinus ectopic meningioma 0
            familial meningioma + 6
            fibrous meningioma 0
            foramen magnum meningioma + 0
            internal auditory canal meningioma 0
            intracranial meningioma 0
            intraorbital meningioma 0
            lung meningioma 0
            lymphoplasmacyte-rich meningioma 0
            malignant leptomeningeal tumor + 0
            meninges hemangiopericytoma 0
            meninges sarcoma + 2
            meningothelial meningioma 0
            microcystic meningioma 0
            parapharyngeal meningioma 0
            periocular meningioma 0
            petrous apex meningioma 0
            pineal region meningioma 0
            pituitary stalk meningioma 0
            posterior cranial fossa meningioma + 0
            psammomatous meningioma 0
            rhabdoid meningioma + 0
            secretory meningioma 0
            skin meningioma 0
            skull base meningioma + 3
            spinal canal and spinal cord meningioma + 0
            spinal meningioma 0
            suprasellar meningioma 0
            supratentorial meningioma 0
            transitional meningioma 0
Path 2
Term Annotations click to browse term
  disease 16937
    disease of cellular proliferation 6909
      cancer 4848
        organ system cancer 4672
          nervous system cancer 1037
            central nervous system cancer 709
              meningioma 27
                Gasserian ganglion meningioma 0
                Hunter-Macdonald Syndrome 0
                Radiation Induced Meningioma 0
                angiomatous meningioma 0
                benign meningioma 0
                bilateral meningioma of optic nerve 0
                brain meningioma + 0
                childhood meningioma + 0
                clear cell meningioma + 0
                ethmoid sinus ectopic meningioma 0
                familial meningioma + 6
                fibrous meningioma 0
                foramen magnum meningioma + 0
                internal auditory canal meningioma 0
                intracranial meningioma 0
                intraorbital meningioma 0
                lung meningioma 0
                lymphoplasmacyte-rich meningioma 0
                malignant leptomeningeal tumor + 0
                meninges hemangiopericytoma 0
                meninges sarcoma + 2
                meningothelial meningioma 0
                microcystic meningioma 0
                parapharyngeal meningioma 0
                periocular meningioma 0
                petrous apex meningioma 0
                pineal region meningioma 0
                pituitary stalk meningioma 0
                posterior cranial fossa meningioma + 0
                psammomatous meningioma 0
                rhabdoid meningioma + 0
                secretory meningioma 0
                skin meningioma 0
                skull base meningioma + 3
                spinal canal and spinal cord meningioma + 0
                spinal meningioma 0
                suprasellar meningioma 0
                supratentorial meningioma 0
                transitional meningioma 0
paths to the root