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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: meningiomas;   meningiomatoses;   meningiomatosis;   meningothelial cell tumor;   multiple meningioma;   multiple meningiomas;   neoplasm of the meninges;   primary meningeal tumor
 narrow_synonym: Metaplastic Meningioma
 primary_id: MESH:D008579
 xref: EFO:0003098;   EFO:1000375;   GARD:7015;   ICD10CM:D32.9;   ICDO:9530/0;   MONDO:0016642;   NCI:C3230;   NCI:C6971;   ORDO:2495
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
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 6:131,713,716...131,735,319
Ensembl chr 6:131,713,720...131,733,921 		JBrowse link
G Alad aminolevulinate dehydratase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16140629 NCBI chr 5:75,961,993...75,972,334
Ensembl chr 5:75,961,993...75,972,474 		JBrowse link
G Arhgap28 Rho GTPase activating protein 28 severity ISO RGD PMID:19885562 RGD:401827824 NCBI chr 9:107,832,584...107,998,030
Ensembl chr 9:107,833,330...107,998,000 		JBrowse link
G Bap1 BRCA1 associated deubiquitinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25231345 NCBI chr16:6,446,709...6,455,535
Ensembl chr16:6,446,709...6,455,535 		JBrowse link
G Cst3 cystatin C ISO CTD Direct Evidence: marker/mechanism CTD PMID:19747051 NCBI chr 3:136,336,923...136,340,796
Ensembl chr 3:136,336,920...136,340,822 		JBrowse link
G Cstb cystatin B ISO CTD Direct Evidence: marker/mechanism CTD PMID:19747051 NCBI chr20:10,245,462...10,247,505
Ensembl chr20:10,245,462...10,247,526 		JBrowse link
G Ctsl cathepsin L ISO CTD Direct Evidence: marker/mechanism CTD PMID:19747051 NCBI chr17:764,370...770,533
Ensembl chr17:764,309...770,548 		JBrowse link
G Dnmt1 DNA methyltransferase 1 ISO ClinVar Annotator: match by term: Meningioma ClinVar NCBI chr 8:19,440,611...19,486,659
Ensembl chr 8:19,440,611...19,486,659 		JBrowse link
G Epb41l3 erythrocyte membrane protein band 4.1-like 3 ISO RGD PMID:10888600 RGD:1300356 NCBI chr 9:109,056,178...109,260,607
Ensembl chr 9:109,016,113...109,260,607 		JBrowse link
G Gpx3 glutathione peroxidase 3 severity ISO RGD PMID:19885562 RGD:401827824 NCBI chr10:39,028,624...39,036,695
Ensembl chr10:39,028,570...39,037,035 		JBrowse link
G Gstm3 glutathione S-transferase mu 3 ISO DNA: deletion: intron 6 RGD PMID:16598069 RGD:5688743 NCBI chr 2:195,590,450...195,612,578
Ensembl chr 2:195,607,289...195,612,475 		JBrowse link
G Gstm5 glutathione S-transferase, mu 5 ISO DNA: deletion: intron 6 RGD PMID:16598069 RGD:5688743 NCBI chr 2:195,531,599...195,534,562
Ensembl chr 2:195,531,495...195,534,553 		JBrowse link
G Hes1 hes family bHLH transcription factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21127729 NCBI chr11:70,705,763...70,708,176
Ensembl chr11:70,705,764...70,708,192 		JBrowse link
G Hgf hepatocyte growth factor disease_progression ISO protein:increased expression:brain: RGD PMID:12115353 RGD:8548633 NCBI chr 4:18,673,736...18,745,582
Ensembl chr 4:18,677,101...18,745,409 		JBrowse link
G Kmt2d lysine methyltransferase 2D disease_progression ISO RGD PMID:26240495 RGD:155582218 NCBI chr 7:129,980,744...130,022,088
Ensembl chr 7:129,962,887...130,020,325 		JBrowse link
G Mllt10 MLLT10, histone lysine methyltransferase DOT1L cofactor ISO CTD Direct Evidence: marker/mechanism CTD PMID:21804547 NCBI chr17:80,821,870...80,949,349
Ensembl chr17:80,822,556...80,949,345 		JBrowse link
G Mn1 MN1 proto-oncogene, transcriptional regulator ISO DNA:translocation RGD PMID:16398473 PMID:7731706 RGD:1624321, RGD:1600423 NCBI chr12:45,181,794...45,220,959
Ensembl chr12:45,183,085...45,221,651 		JBrowse link
G Mtrr 5-methyltetrahydrofolate-homocysteine methyltransferase reductase susceptibility ISO DNA:SNP: :66A>G, (rs1801394) (human) RGD PMID:18483342 RGD:5508186 NCBI chr 1:34,866,991...34,899,425
Ensembl chr 1:34,867,089...34,899,425 		JBrowse link
G Nf2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor ISO ClinVar Annotator: match by term: Meningioma
DNA:loss of heterozygosity
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
RGD		 PMID:7868131 PMID:8162072 PMID:8379998 PMID:8882871 PMID:9643284 More... RGD:1624321, RGD:150530508 NCBI chr14:79,627,399...79,710,709
Ensembl chr14:79,627,399...79,710,667 		JBrowse link
G Pdgfb platelet derived growth factor subunit B ISO ClinVar Annotator: match by term: Meningioma ClinVar PMID:2212004 PMID:3133569 PMID:3969118 NCBI chr 7:111,539,444...111,557,984
Ensembl chr 7:111,540,345...111,557,984 		JBrowse link
G Pgr progesterone receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:8008172 PMID:19731987 PMID:19747051 NCBI chr 8:6,072,673...6,131,552
Ensembl chr 8:6,072,673...6,131,344 		JBrowse link
G Pten phosphatase and tensin homolog ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Meningioma		 CTD
ClinVar		 PMID:792966 PMID:12085208 PMID:17873882 PMID:19340001 PMID:19458356 More... NCBI chr 1:230,630,443...230,697,070
Ensembl chr 1:230,630,338...230,696,838 		JBrowse link
G Smarcb1 SWI/SNF related BAF chromatin remodeling complex subunit B1 ISO DNA:missense mutation, loss of heterozygosity:cds: c.143C>T (human) RGD PMID:22038540 RGD:155804288 NCBI chr20:12,741,164...12,763,616
Ensembl chr20:12,741,477...12,763,620 		JBrowse link
G Smarce1 SWI/SNF related BAF chromatin remodeling complex subunit E1 ISO DNA:multiple:multiple (human)
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:35681054 PMID:29409008 RGD:151708704 NCBI chr10:84,159,270...84,180,547
Ensembl chr10:84,159,275...84,179,989 		JBrowse link
G Smo smoothened, frizzled class receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:23334667 NCBI chr 4:58,343,626...58,373,823
Ensembl chr 4:58,343,529...58,373,829 		JBrowse link
G Spon2 spondin 2 severity ISO RGD PMID:19885562 RGD:401827824 NCBI chr14:77,505,695...77,518,001
Ensembl chr14:77,511,901...77,517,996 		JBrowse link
G Xrcc1 X-ray repair cross complementing 1 susceptibility ISO DNA:SNP:exon 10: p.R399Q (human) RGD PMID:18330515 RGD:401827274 NCBI chr 1:80,140,495...80,168,705
Ensembl chr 1:80,141,207...80,168,701 		JBrowse link
G Xrcc3 X-ray repair cross complementing 3 susceptibility ISO DNA:SNP:exon 8: p.T241M (rs861539) (Human) RGD PMID:18330515 RGD:401827274 NCBI chr 6:130,863,405...130,873,765
Ensembl chr 6:130,863,959...130,872,444 		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 PMID:25741868 PMID:26467025 PMID:28492532 PMID:31371350 PMID:31627758 NCBI chr 2:23,585,876...23,611,199
Ensembl chr 2:23,586,031...23,613,713 		JBrowse link
G Kmt2d lysine methyltransferase 2D ISO ClinVar Annotator: match by term: Cavernous sinus meningioma ClinVar PMID:21671394 PMID:22126750 PMID:28492532 NCBI chr 7:129,980,744...130,022,088
Ensembl chr 7:129,962,887...130,020,325 		JBrowse link
G Msh3 mutS homolog 3 ISO ClinVar Annotator: match by term: Cavernous sinus meningioma ClinVar PMID:25741868 PMID:26467025 PMID:28492532 PMID:31371350 PMID:31627758 NCBI chr 2:23,444,326...23,585,777 JBrowse link
familial meningioma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Klln killin, p53-regulated DNA replication inhibitor ISO ClinVar Annotator: match by term: Meningioma, familial, susceptibility to ClinVar PMID:25741868 PMID:26467025 PMID:27535533
G Lztr1 leucine zipper like post translational regulator 1 ISO ClinVar Annotator: match by term: Familial multiple meningioma ClinVar PMID:25741868 NCBI chr11:83,487,717...83,503,896
Ensembl chr11:83,487,717...83,503,633 		JBrowse link
G Mn1 MN1 proto-oncogene, transcriptional regulator ISO ClinVar Annotator: match by term: Familial meningioma | ClinVar Annotator: match by term: Meningioma, familial, susceptibility to
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:22451504 PMID:22965664 PMID:25741868 PMID:31834374 PMID:32790267 NCBI chr12:45,181,794...45,220,959
Ensembl chr12:45,183,085...45,221,651 		JBrowse link
G Nf2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Familial meningioma | ClinVar Annotator: match by term: Meningioma, familial, susceptibility to		 OMIM
CTD
ClinVar		 PMID:1479598 PMID:7759081 PMID:8012353 PMID:8081368 PMID:9466988 More... NCBI chr14:79,627,399...79,710,709
Ensembl chr14:79,627,399...79,710,667 		JBrowse link
G Pdgfb platelet derived growth factor subunit B ISO ClinVar Annotator: match by term: Familial meningioma
CTD Direct Evidence: marker/mechanism		 ClinVar
OMIM
CTD		 PMID:25741868 NCBI chr 7:111,539,444...111,557,984
Ensembl chr 7:111,540,345...111,557,984 		JBrowse link
G Pten phosphatase and tensin homolog ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Familial meningioma | ClinVar Annotator: match by term: Meningioma, familial, susceptibility to		 CTD
OMIM
ClinVar		 PMID:9259288 PMID:9399897 PMID:9425889 PMID:9467011 PMID:9600246 More... NCBI chr 1:230,630,443...230,697,070
Ensembl chr 1:230,630,338...230,696,838 		JBrowse link
G Schip1 schwannomin interacting protein 1 ISO ClinVar Annotator: match by term: Familial meningioma ClinVar PMID:25741868 NCBI chr 2:152,127,171...152,888,587
Ensembl chr 2:152,126,953...152,888,585 		JBrowse link
G Smarce1 SWI/SNF related BAF chromatin remodeling complex subunit E1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Familial meningioma | ClinVar Annotator: match by term: Meningioma, familial, susceptibility to		 CTD
OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:22426308 PMID:23377182 More... NCBI chr10:84,159,270...84,180,547
Ensembl chr10:84,159,275...84,179,989 		JBrowse link
G Sufu SUFU negative regulator of hedgehog signaling susceptibility ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Familial meningioma | ClinVar Annotator: match by term: Meningioma, familial, susceptibility to		 CTD
OMIM
ClinVar		 PMID:21188540 PMID:22508808 PMID:22958902 PMID:23826113 PMID:24728327 More... NCBI chr 1:245,257,725...245,355,576
Ensembl chr 1:245,257,768...245,355,577 		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 chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19104
    disease of cellular proliferation 7917
      Neoplasms by Histologic Type 5405
        Nerve Tissue Neoplasms 539
          meningioma 36
            Anaplastic Meningioma 0
            Atypical Meningioma 0
            Gasserian ganglion meningioma 0
            Hunter-Macdonald Syndrome 0
            Radiation Induced Meningioma 0
            angiomatous meningioma 0
            anterior optic tract meningioma 0
            benign meningioma 0
            bilateral meningioma of optic nerve 0
            brain meningioma + 0
            childhood meningioma + 0
            chordoid meningioma 0
            clear cell meningioma + 0
            ethmoid sinus ectopic meningioma 0
            familial meningioma + 9
            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 neoplasm + 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
            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 19104
    disease of cellular proliferation 7917
      cancer 5772
        organ system cancer 5532
          nervous system cancer 1001
            central nervous system cancer 804
              meningioma 36
                Anaplastic Meningioma 0
                Atypical Meningioma 0
                Gasserian ganglion meningioma 0
                Hunter-Macdonald Syndrome 0
                Radiation Induced Meningioma 0
                angiomatous meningioma 0
                anterior optic tract meningioma 0
                benign meningioma 0
                bilateral meningioma of optic nerve 0
                brain meningioma + 0
                childhood meningioma + 0
                chordoid meningioma 0
                clear cell meningioma + 0
                ethmoid sinus ectopic meningioma 0
                familial meningioma + 9
                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 neoplasm + 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
                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