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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;   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 thymoma viral proto-oncogene 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23334667 NCBI chr12:112,620,260...112,641,266
Ensembl chr12:112,620,255...112,641,318 		JBrowse link
G Alad aminolevulinate, delta-, dehydratase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16140629 NCBI chr 4:62,422,762...62,438,300
Ensembl chr 4:62,427,406...62,438,155 		JBrowse link
G Bap1 Brca1 associated protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25231345 NCBI chr14:30,973,358...30,981,887
Ensembl chr14:30,973,407...30,981,901 		JBrowse link
G Cst3 cystatin C ISO CTD Direct Evidence: marker/mechanism CTD PMID:19747051 NCBI chr 2:148,713,642...148,717,432
Ensembl chr 2:148,713,642...148,717,612 		JBrowse link
G Cstb cystatin B ISO CTD Direct Evidence: marker/mechanism CTD PMID:19747051 NCBI chr10:78,261,504...78,263,456
Ensembl chr10:78,261,503...78,263,456 		JBrowse link
G Ctsl cathepsin L ISO CTD Direct Evidence: marker/mechanism CTD PMID:19747051 NCBI chr13:64,509,704...64,518,586
Ensembl chr13:64,507,151...64,518,704 		JBrowse link
G Dnmt1 DNA methyltransferase 1 ISO ClinVar Annotator: match by term: Meningioma ClinVar NCBI chr 9:20,818,501...20,871,084
Ensembl chr 9:20,818,505...20,871,184 		JBrowse link
G Epb41l3 erythrocyte membrane protein band 4.1 like 3 ISO RGD PMID:10888600 RGD:1300356 NCBI chr17:69,382,642...69,596,986
Ensembl chr17:69,382,678...69,596,984 		JBrowse link
G Gpx3 glutathione peroxidase 3 severity ISO RGD PMID:19885562 RGD:401827824 NCBI chr11:54,793,680...54,801,213
Ensembl chr11:54,793,279...54,801,203 		JBrowse link
G Gstm3 glutathione S-transferase, mu 3 ISO DNA: deletion: intron 6 RGD PMID:16598069 RGD:5688743 NCBI chr 3:107,871,019...107,876,484
Ensembl chr 3:107,871,012...107,876,599 		JBrowse link
G Gstm5 glutathione S-transferase, mu 5 ISO DNA: deletion: intron 6 RGD PMID:16598069 RGD:5688743 NCBI chr 3:107,803,240...107,806,002
Ensembl chr 3:107,803,137...107,806,002 		JBrowse link
G Hes1 hes family bHLH transcription factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21127729 NCBI chr16:29,883,259...29,886,614
Ensembl chr16:29,883,202...29,886,614 		JBrowse link
G Hgf hepatocyte growth factor disease_progression ISO protein:increased expression:brain: RGD PMID:12115353 RGD:8548633 NCBI chr 5:16,758,493...16,827,448
Ensembl chr 5:16,758,493...16,825,150 		JBrowse link
G Kmt2d lysine (K)-specific methyltransferase 2D disease_progression ISO RGD PMID:26240495 RGD:155582218 NCBI chr15:98,729,550...98,771,958
Ensembl chr15:98,729,550...98,769,085 		JBrowse link
G Mllt10 myeloid/lymphoid or mixed-lineage leukemia; translocated to, 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21804547 NCBI chr 2:18,059,971...18,217,201
Ensembl chr 2:18,060,048...18,217,199 		JBrowse link
G Mn1 meningioma 1 ISO RGD PMID:16398473 PMID:7731706 RGD:1624321, RGD:1600423 NCBI chr 5:111,565,145...111,604,890
Ensembl chr 5:111,565,228...111,604,899 		JBrowse link
G Mtrr 5-methyltetrahydrofolate-homocysteine methyltransferase reductase susceptibility ISO DNA:SNP: :66A>G, (rs1801394) (human) RGD PMID:18483342 RGD:5508186 NCBI chr13:68,708,897...68,730,273
Ensembl chr13:68,708,899...68,730,268 		JBrowse link
G Nf2 neurofibromin 2 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 chr11:4,715,845...4,799,544
Ensembl chr11:4,715,845...4,799,536 		JBrowse link
G Pdgfb platelet derived growth factor, B polypeptide ISO ClinVar Annotator: match by term: Meningioma ClinVar PMID:2212004 PMID:3133569 PMID:3969118 NCBI chr15:79,880,066...79,899,178
Ensembl chr15:79,880,075...79,899,178 		JBrowse link
G Pgr progesterone receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:8008172 PMID:19731987 PMID:19747051 NCBI chr 9:8,890,017...8,968,612
Ensembl chr 9:8,899,834...8,968,612 		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 chr19:32,734,977...32,803,560
Ensembl chr19:32,734,897...32,803,560 		JBrowse link
G Smarcb1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 ISO DNA:missense mutation, loss of heterozygosity:cds: c.143C>T (human) RGD PMID:22038540 RGD:155804288 NCBI chr10:75,732,603...75,757,448
Ensembl chr10:75,732,603...75,757,451 		JBrowse link
G Smarce1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 ISO DNA:multiple:multiple (human)
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:35681054 PMID:29409008 RGD:151708704 NCBI chr11:99,099,873...99,121,843
Ensembl chr11:99,099,873...99,121,843 		JBrowse link
G Smo smoothened, frizzled class receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:23334667 NCBI chr 6:29,735,480...29,761,359
Ensembl chr 6:29,735,502...29,761,364 		JBrowse link
G Xrcc1 X-ray repair complementing defective repair in Chinese hamster cells 1 susceptibility ISO DNA:SNP:exon 10: p.R399Q (human) RGD PMID:18330515 RGD:401827274 NCBI chr 7:24,246,124...24,272,863
Ensembl chr 7:24,245,714...24,272,865 		JBrowse link
G Xrcc3 X-ray repair complementing defective repair in Chinese hamster cells 3 susceptibility ISO DNA:SNP:exon 8: p.T241M (rs861539) (Human) RGD PMID:18330515 RGD:401827274 NCBI chr12:111,769,626...111,780,326
Ensembl chr12:111,769,626...111,780,307 		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 chr13:92,491,291...92,525,561
Ensembl chr13:92,491,234...92,525,561 		JBrowse link
G Kmt2d lysine (K)-specific methyltransferase 2D ISO ClinVar Annotator: match by term: Cavernous sinus meningioma ClinVar PMID:21671394 PMID:22126750 PMID:28492532 NCBI chr15:98,729,550...98,771,958
Ensembl chr15:98,729,550...98,769,085 		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 chr13:92,348,387...92,491,515
Ensembl chr13:92,348,380...92,491,511 		JBrowse link
familial meningioma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gm36566 predicted gene, 36566 ISO ClinVar Annotator: match by term: Meningioma, familial, susceptibility to ClinVar PMID:25741868 PMID:27535533 NCBI chr19:32,731,847...32,734,812 JBrowse link
G Iqschfp Iqcj and Schip1 fusion protein ISO ClinVar Annotator: match by term: Familial meningioma ClinVar PMID:25741915 NCBI chr 3:67,799,553...68,533,815
Ensembl chr 3:67,799,565...68,533,799 		JBrowse link
G Mn1 meningioma 1 ISO ClinVar Annotator: match by term: Familial meningioma
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:25741868 NCBI chr 5:111,565,145...111,604,890
Ensembl chr 5:111,565,228...111,604,899 		JBrowse link
G Nf2 neurofibromin 2 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:7759081 PMID:8012353 PMID:9466988 PMID:9536098 PMID:9931334 More... NCBI chr11:4,715,845...4,799,544
Ensembl chr11:4,715,845...4,799,536 		JBrowse link
G Pdgfb platelet derived growth factor, B polypeptide ISO ClinVar Annotator: match by term: Familial meningioma
CTD Direct Evidence: marker/mechanism		 ClinVar
OMIM
CTD		 PMID:25741868 NCBI chr15:79,880,066...79,899,178
Ensembl chr15:79,880,075...79,899,178 		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
ClinVar
OMIM		 PMID:9259288 PMID:9399897 PMID:9425889 PMID:9467011 PMID:9600246 More... NCBI chr19:32,734,977...32,803,560
Ensembl chr19:32,734,897...32,803,560 		JBrowse link
G Schip1 schwannomin interacting protein 1 ISO ClinVar Annotator: match by term: Familial meningioma ClinVar PMID:25741915 NCBI chr 3:67,972,135...68,533,815
Ensembl chr 3:67,972,135...68,533,814 		JBrowse link
G Smarce1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 susceptibility ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Familial meningioma | ClinVar Annotator: match by term: Meningioma, familial, susceptibility to		 CTD
ClinVar
OMIM		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:22426308 PMID:23377182 More... NCBI chr11:99,099,873...99,121,843
Ensembl chr11:99,099,873...99,121,843 		JBrowse link
G Sufu SUFU negative regulator of hedgehog signaling 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 chr19:46,385,335...46,477,243
Ensembl chr19:46,385,335...46,477,243 		JBrowse link
meninges sarcoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Trp53 transformation related protein 53 ISO RGD PMID:27528400 RGD:12738450 NCBI chr11:69,471,174...69,482,699
Ensembl chr11:69,471,185...69,482,699 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18301
    disease of cellular proliferation 7493
      Neoplasms by Histologic Type 5224
        Nerve Tissue Neoplasms 493
          meningioma 33
            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 + 1
            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 18301
    disease of cellular proliferation 7493
      cancer 5429
        organ system cancer 5193
          nervous system cancer 930
            central nervous system cancer 747
              meningioma 33
                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 + 1
                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