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HUMAN PHENOTYPE - ANNOTATIONS

The Human Phenotype Ontology (HPO) is downloaded weekly from http://compbio.charite.de/hudson/job/hpo/lastStableBuild/artifact/ontology/release/hp.obo. The file downloaded is considered the "last stable build" available for the ontology. For more about the HPO, view their website at http://www.human-phenotype-ontology.org/.
Term:Meningioma
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Accession:HP:0002858 term browser browse the term
Definition:The presence of a meningioma, i.e., a benign tumor originating from the dura mater or arachnoid mater.
Synonyms:broad_synonym: Noncancerous growth of membranes covering brain
 alt_id: HP:0006754
 xref: MESH:D008579;   NCI:C3230;   UMLS:C0025286


show annotations for term's descendants           Sort by:
Meningioma term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AKT1 AKT serine/threonine kinase 1 IAGP HPO NCBI chr14:104,769,349...104,795,748
Ensembl chr14:104,769,349...104,795,751 		JBrowse link
G ARMC5 armadillo repeat containing 5 IAGP HPO NCBI chr16:31,458,304...31,467,167
Ensembl chr16:31,458,080...31,467,166 		JBrowse link
G BAP1 BRCA1 associated protein 1 IAGP HPO NCBI chr 3:52,401,008...52,410,008
Ensembl chr 3:52,401,008...52,410,008 		JBrowse link
G CCM2 CCM2 scaffold protein IAGP HPO NCBI chr 7:44,999,746...45,076,470
Ensembl chr 7:44,999,475...45,076,469 		JBrowse link
G CDKN1A cyclin dependent kinase inhibitor 1A IAGP HPO NCBI chr 6:36,676,463...36,687,332
Ensembl chr 6:36,676,460...36,687,337 		JBrowse link
G CDKN1B cyclin dependent kinase inhibitor 1B IAGP HPO NCBI chr12:12,717,368...12,722,369
Ensembl chr12:12,685,498...12,722,369 		JBrowse link
G CDKN2B cyclin dependent kinase inhibitor 2B IAGP HPO NCBI chr 9:22,002,903...22,009,313
Ensembl chr 9:22,002,903...22,009,305 		JBrowse link
G CDKN2C cyclin dependent kinase inhibitor 2C IAGP HPO NCBI chr 1:50,968,706...50,974,634
Ensembl chr 1:50,960,745...50,974,634 		JBrowse link
G CHEK2 checkpoint kinase 2 IAGP HPO NCBI chr22:28,687,743...28,741,834
Ensembl chr22:28,687,743...28,742,422 		JBrowse link
G CREBBP CREB binding protein IAGP HPO NCBI chr16:3,725,054...3,880,713
Ensembl chr16:3,725,054...3,880,713 		JBrowse link
G DNMT1 DNA methyltransferase 1 IAGP ClinVar Annotator: match by term: Meningioma ClinVar NCBI chr19:10,133,346...10,194,953
Ensembl chr19:10,133,342...10,231,286 		JBrowse link
G EIF3F eukaryotic translation initiation factor 3 subunit F IAGP HPO NCBI chr11:7,987,337...8,001,852
Ensembl chr11:7,970,251...8,001,862 		JBrowse link
G EP300 E1A binding protein p300 IAGP HPO NCBI chr22:41,092,592...41,180,077
Ensembl chr22:41,092,592...41,180,077 		JBrowse link
G GNAS GNAS complex locus IAGP HPO NCBI chr20:58,839,748...58,911,192
Ensembl chr20:58,839,718...58,911,192 		JBrowse link
G KLLN killin, p53 regulated DNA replication inhibitor IAGP HPO NCBI chr10:87,859,158...87,863,533
Ensembl chr10:87,859,158...87,863,533 		JBrowse link
G KRIT1 KRIT1 ankyrin repeat containing IAGP HPO NCBI chr 7:92,198,969...92,246,100
Ensembl chr 7:92,197,498...92,246,166 		JBrowse link
G LMNA lamin A/C IAGP HPO NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,573...156,140,081 		JBrowse link
G MBD4 methyl-CpG binding domain 4, DNA glycosylase IAGP HPO NCBI chr 3:129,430,947...129,439,948
Ensembl chr 3:129,430,947...129,440,179 		JBrowse link
G MEN1 menin 1 IAGP HPO NCBI chr11:64,803,516...64,811,294
Ensembl chr11:64,803,510...64,811,294 		JBrowse link
G MN1 MN1 proto-oncogene, transcriptional regulator IAGP HPO NCBI chr22:27,748,277...27,801,756
Ensembl chr22:27,748,277...27,801,756 		JBrowse link
G NF1 neurofibromin 1 IAGP HPO NCBI chr17:31,094,927...31,377,677
Ensembl chr17:31,094,927...31,382,116 		JBrowse link
G NF2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor IAGP ClinVar Annotator: match by term: Meningioma HPO
ClinVar		 PMID:7868131 PMID:8162072 PMID:8379998 PMID:8882871 PMID:9643284 More... NCBI chr22:29,603,556...29,698,600
Ensembl chr22:29,603,556...29,698,598 		JBrowse link
G NRAS NRAS proto-oncogene, GTPase IAGP HPO NCBI chr 1:114,704,469...114,716,771
Ensembl chr 1:114,704,469...114,716,771 		JBrowse link
G NTHL1 nth like DNA glycosylase 1 IAGP HPO NCBI chr16:2,039,820...2,047,834
Ensembl chr16:2,039,815...2,047,866 		JBrowse link
G PDCD10 programmed cell death 10 IAGP HPO NCBI chr 3:167,683,298...167,734,892
Ensembl chr 3:167,683,298...167,734,939 		JBrowse link
G PDGFB platelet derived growth factor subunit B IAGP ClinVar Annotator: match by term: Meningioma HPO
ClinVar		 PMID:2212004 PMID:3133569 PMID:3969118 NCBI chr22:39,223,359...39,244,982
Ensembl chr22:39,223,359...39,244,982 		JBrowse link
G PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha IAGP HPO NCBI chr 3:179,148,126...179,240,093
Ensembl chr 3:179,148,114...179,240,093 		JBrowse link
G PTEN phosphatase and tensin homolog IAGP ClinVar Annotator: match by term: Meningioma HPO
ClinVar		 PMID:12085208 PMID:17873882 PMID:19340001 PMID:19458356 PMID:19829307 More... NCBI chr10:87,863,625...87,971,930
Ensembl chr10:87,862,563...87,971,930 		JBrowse link
G SDHB succinate dehydrogenase complex iron sulfur subunit B IAGP HPO NCBI chr 1:17,018,722...17,054,032
Ensembl chr 1:17,018,722...17,054,032 		JBrowse link
G SDHC succinate dehydrogenase complex subunit C IAGP HPO NCBI chr 1:161,314,381...161,363,206
Ensembl chr 1:161,314,381...161,363,206 		JBrowse link
G SDHD succinate dehydrogenase complex subunit D IAGP HPO NCBI chr11:112,086,873...112,095,794
Ensembl chr11:112,086,824...112,120,016 		JBrowse link
G SEC23B SEC23 homolog B, COPII coat complex component IAGP HPO NCBI chr20:18,507,548...18,561,415
Ensembl chr20:18,507,520...18,561,415 		JBrowse link
G SMARCB1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 IAGP HPO NCBI chr22:23,786,966...23,838,009
Ensembl chr22:23,786,931...23,838,009 		JBrowse link
G SMARCE1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 IAGP HPO 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 HPO NCBI chr10:102,502,819...102,633,535
Ensembl chr10:102,503,972...102,633,535 		JBrowse link
G USF3 upstream transcription factor family member 3 IAGP HPO NCBI chr 3:113,648,385...113,696,642
Ensembl chr 3:113,648,385...113,696,646 		JBrowse link
G WRN WRN RecQ like helicase IAGP HPO NCBI chr 8:31,033,810...31,176,138
Ensembl chr 8:31,033,788...31,176,138 		JBrowse link
Intracranial meningioma term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AKT1 AKT serine/threonine kinase 1 IAGP HPO NCBI chr14:104,769,349...104,795,748
Ensembl chr14:104,769,349...104,795,751 		JBrowse link
G BAP1 BRCA1 associated protein 1 IAGP HPO NCBI chr 3:52,401,008...52,410,008
Ensembl chr 3:52,401,008...52,410,008 		JBrowse link
G NF2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor IAGP HPO 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 HPO NCBI chr22:39,223,359...39,244,982
Ensembl chr22:39,223,359...39,244,982 		JBrowse link
G PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha IAGP HPO NCBI chr 3:179,148,126...179,240,093
Ensembl chr 3:179,148,114...179,240,093 		JBrowse link
G SMARCB1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 IAGP HPO NCBI chr22:23,786,966...23,838,009
Ensembl chr22:23,786,931...23,838,009 		JBrowse link
G SMARCE1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 IAGP HPO NCBI chr17:40,624,962...40,647,818
Ensembl chr17:40,624,962...40,648,654 		JBrowse link
G SMO smoothened, frizzled class receptor IAGP HPO NCBI chr 7:129,188,633...129,213,545
Ensembl chr 7:129,188,633...129,213,545 		JBrowse link
G SUFU SUFU negative regulator of hedgehog signaling IAGP HPO NCBI chr10:102,502,819...102,633,535
Ensembl chr10:102,503,972...102,633,535 		JBrowse link
G TERT telomerase reverse transcriptase IAGP HPO NCBI chr 5:1,253,167...1,295,068
Ensembl chr 5:1,253,147...1,295,068 		JBrowse link
G TRAF7 TNF receptor associated factor 7 IAGP HPO NCBI chr16:2,155,782...2,178,129
Ensembl chr16:2,155,698...2,178,129 		JBrowse link
Optic nerve sheath meningioma term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NF2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor IAGP HPO NCBI chr22:29,603,556...29,698,600
Ensembl chr22:29,603,556...29,698,598 		JBrowse link
Spinal meningioma term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AKT1 AKT serine/threonine kinase 1 IAGP HPO NCBI chr14:104,769,349...104,795,748
Ensembl chr14:104,769,349...104,795,751 		JBrowse link
G BAP1 BRCA1 associated protein 1 IAGP HPO NCBI chr 3:52,401,008...52,410,008
Ensembl chr 3:52,401,008...52,410,008 		JBrowse link
G NF2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor IAGP HPO 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 HPO NCBI chr22:39,223,359...39,244,982
Ensembl chr22:39,223,359...39,244,982 		JBrowse link
G PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha IAGP HPO NCBI chr 3:179,148,126...179,240,093
Ensembl chr 3:179,148,114...179,240,093 		JBrowse link
G SMARCB1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 IAGP HPO NCBI chr22:23,786,966...23,838,009
Ensembl chr22:23,786,931...23,838,009 		JBrowse link
G SMARCE1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 IAGP HPO NCBI chr17:40,624,962...40,647,818
Ensembl chr17:40,624,962...40,648,654 		JBrowse link
G SMO smoothened, frizzled class receptor IAGP HPO NCBI chr 7:129,188,633...129,213,545
Ensembl chr 7:129,188,633...129,213,545 		JBrowse link
G SUFU SUFU negative regulator of hedgehog signaling IAGP HPO NCBI chr10:102,502,819...102,633,535
Ensembl chr10:102,503,972...102,633,535 		JBrowse link
G TERT telomerase reverse transcriptase IAGP HPO NCBI chr 5:1,253,167...1,295,068
Ensembl chr 5:1,253,147...1,295,068 		JBrowse link
G TRAF7 TNF receptor associated factor 7 IAGP HPO NCBI chr16:2,155,782...2,178,129
Ensembl chr16:2,155,698...2,178,129 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 16463
    Phenotypic abnormality 16461
      Abnormality of the nervous system 11458
        Abnormal nervous system morphology 4266
          Morphological central nervous system abnormality 4119
            Abnormal meningeal morphology 195
              Meningioma 40
                Intracranial meningioma 11
                Multiple meningiomas 0
                Optic nerve sheath meningioma 1
                Spinal meningioma 11
Path 2
Term Annotations click to browse term
  Human phenotype 16463
    Phenotypic abnormality 16461
      Abnormality of the nervous system 11458
        Abnormal nervous system morphology 4266
          Morphological central nervous system abnormality 4119
            Neoplasm of the central nervous system 998
              Benign neoplasm of the central nervous system 98
                Meningioma 40
                  Intracranial meningioma 11
                  Multiple meningiomas 0
                  Optic nerve sheath meningioma 1
                  Spinal meningioma 11
paths to the root