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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:familial meningioma
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Accession:DOID:4586 term browser browse the term
Synonyms:exact_synonym: MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO
 primary_id: MESH:C537443;   RDO:0003286
 alt_id: OMIM:607174
 xref: NCI:C5301
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
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 OMIM
CTD
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, PMID:30311386 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 CTD Direct Evidence: marker/mechanism OMIM
CTD
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, susceptibility to
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:9399897, PMID:9467011, PMID:10232405, PMID:10353779, PMID:10400993, PMID:10468583, PMID:10749983, PMID:10848731, PMID:11238682, PMID:11685670, PMID:12844284, PMID:14518070, PMID:15805158, PMID:17286265, PMID:17392703, PMID:17427195, PMID:19265751, PMID:19668082, PMID:21194675, PMID:21956414, PMID:22252256, PMID:22381246, PMID:23442912, PMID:23470840, PMID:23475934, PMID:23695273, PMID:24033266, PMID:24052722, PMID:24136893, PMID:24778394, PMID:25022750, PMID:25132236, PMID:25157968, PMID:25326635, PMID:25669429, PMID:25741868, PMID:25756585, PMID:27477328, PMID:28492532, PMID:28526761, PMID:30287823, 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:22426308, PMID:23377182, PMID:23906836, PMID:23929686, PMID:25143307, PMID:25169753, PMID:25249420, PMID:25741868, PMID:26114992, PMID:27264197, 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
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:22958902 NCBI chr 1:266,143,766...266,241,742
Ensembl chr 1:266,143,818...266,239,016
JBrowse link
Meningioma, Somatic term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G G6pd glucose-6-phosphate dehydrogenase ISO ClinVar Annotator: match by term: Meningioma, somatic ClinVar PMID:1562739, PMID:2263506, PMID:6714986, PMID:8447319, PMID:8537082, PMID:9299858, PMID:10643148, PMID:11499668, PMID:16143877, PMID:17726510, PMID:20203002, PMID:21446359, PMID:23365477, PMID:25541721, PMID:25775246, PMID:26060661, PMID:26823837, PMID:28492532, PMID:30311386 NCBI chr  X:156,274,800...156,293,935
Ensembl chr  X:156,274,800...156,293,926
JBrowse link
G Scn5a sodium voltage-gated channel alpha subunit 5 ISO ClinVar Annotator: match by term: Meningioma, somatic ClinVar PMID:11710892, PMID:19597050, PMID:20129283, PMID:22581653, PMID:24033266, PMID:24400668, PMID:24613995, PMID:24681144, PMID:25741868, PMID:28492532, PMID:29728395, PMID:30311386 NCBI chr 8:128,169,191...128,266,681
Ensembl chr 8:128,169,191...128,266,639
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16103
    syndrome 6989
      Hereditary Neoplastic Syndromes 815
        familial meningioma 8
          Meningioma, Somatic 2
Path 2
Term Annotations click to browse term
  disease 16103
    disease of cellular proliferation 5912
      Neoplasms by Site 5277
        Nervous System Neoplasms 1664
          Central Nervous System Neoplasms 1340
            Meningeal Neoplasms 27
              meningioma 27
                familial meningioma 8
                  Meningioma, Somatic 2
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.