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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
 broad_synonym: MN1-RELATED CONDITION
 primary_id: MESH:C537443
 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 IQCJ-SCHIP1 IQCJ-SCHIP1 readthrough IAGP ClinVar Annotator: match by term: Familial meningioma ClinVar PMID:25741915 NCBI chr 3:159,069,319...159,897,359
Ensembl chr 3:158,962,235...159,897,629 		JBrowse link
G KLLN killin, p53 regulated DNA replication inhibitor IAGP ClinVar Annotator: match by term: Meningioma, familial, susceptibility to ClinVar PMID:25741868 PMID:27535533 NCBI chr10:87,859,158...87,863,533
Ensembl chr10:87,859,158...87,863,533 		JBrowse link
G LOC130004614 ATAC-STARR-seq lymphoblastoid silent region 2764 IAGP ClinVar Annotator: match by term: Familial meningioma ClinVar PMID:25741868 PMID:28492532 NCBI chr10:102,503,788...102,504,257 JBrowse link
G MN1 MN1 proto-oncogene, transcriptional regulator IAGP
EXP		 ClinVar Annotator: match by term: Familial meningioma
CTD Direct Evidence: marker/mechanism		 ClinVar
OMIM
CTD		 PMID:25741868 NCBI chr22:27,748,277...27,801,756
Ensembl chr22:27,748,277...27,801,756 		JBrowse link
G NF2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor IAGP
EXP		 ClinVar Annotator: match by term: Familial meningioma
ClinVar Annotator: match by term: Meningioma, familial, susceptibility to
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:7759081 PMID:8012353 PMID:9466988 PMID:9536098 PMID:9931334 More... NCBI chr22:29,603,556...29,698,600
Ensembl chr22:29,603,556...29,698,598 		JBrowse link
G PDGFB platelet derived growth factor subunit B IAGP
EXP		 ClinVar Annotator: match by term: Familial meningioma
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:25741868 NCBI chr22:39,223,359...39,244,982
Ensembl chr22:39,223,359...39,244,982 		JBrowse link
G PTEN phosphatase and tensin homolog IAGP
EXP		 ClinVar Annotator: match by term: Familial meningioma
ClinVar Annotator: match by term: Meningioma, familial, susceptibility to
CTD Direct Evidence: marker/mechanism		 ClinVar
OMIM
CTD		 PMID:9259288 PMID:9399897 PMID:9425889 PMID:9467011 PMID:9600246 More... NCBI chr10:87,863,625...87,971,930
Ensembl chr10:87,862,638...87,971,930 		JBrowse link
G SCHIP1 schwannomin interacting protein 1 IAGP ClinVar Annotator: match by term: Familial meningioma ClinVar PMID:25741915 NCBI chr 3:159,273,244...159,897,359
Ensembl chr 3:159,839,861...159,897,360
Ensembl chr 3:159,839,861...159,897,360 		JBrowse link
G SMARCE1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 susceptibility IAGP
EXP		 ClinVar Annotator: match by term: Familial meningioma
ClinVar Annotator: match by term: Familial meningioma | ClinVar Annotator: match by term: Meningioma, familial, susceptibility to
CTD Direct Evidence: marker/mechanism		 ClinVar
OMIM
CTD		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:22426308 PMID:23377182 More... NCBI chr17:40,624,962...40,647,818
Ensembl chr17:40,624,962...40,648,654 		JBrowse link
G SUFU SUFU negative regulator of hedgehog signaling IAGP
EXP		 ClinVar Annotator: match by term: Familial meningioma
ClinVar Annotator: match by term: Familial meningioma | ClinVar Annotator: match by term: Meningioma, familial, susceptibility to
CTD Direct Evidence: marker/mechanism		 ClinVar
OMIM
CTD		 PMID:21188540 PMID:22508808 PMID:22958902 PMID:23826113 PMID:24728327 More... NCBI chr10:102,502,819...102,633,535
Ensembl chr10:102,503,972...102,633,535 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 41189
    syndrome 18073
      Hereditary Neoplastic Syndromes 1755
        familial meningioma 10
          Somatic Meningioma 0
Path 2
Term Annotations click to browse term
  disease 41189
    disease of cellular proliferation 9736
      Neoplasms by Site 8912
        Nervous System Neoplasms 2194
          Central Nervous System Neoplasms 1972
            Meningeal Neoplasms 33
              meningioma 33
                familial meningioma 10
                  Somatic Meningioma 0
paths to the root