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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:narrow_synonym: FAMILIAL MULTIPLE MENINGIOMA
 broad_synonym: MN1-RELATED CONDITION
 related_synonym: MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO
 primary_id: MESH:C537443
 alt_id: MIM: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 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 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: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 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 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 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: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
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19134
    syndrome 11370
      Hereditary Neoplastic Syndromes 1526
        familial meningioma 9
          Somatic Meningioma 0
Path 2
Term Annotations click to browse term
  disease 19134
    disease of cellular proliferation 7888
      Neoplasms by Site 7330
        Nervous System Neoplasms 1584
          Central Nervous System Neoplasms 1381
            Meningeal Neoplasms 33
              meningioma 33
                familial meningioma 9
                  Somatic Meningioma 0
paths to the root