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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:arteriovenous malformations of the brain
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Accession:DOID:0060688 term browser browse the term
Definition:A central nervous system benign neoplasm that derives_from endothelial cells and that is located_in the brain. (DO)
Synonyms:exact_synonym: BAVM;   Cerebral Arteriovenous Malformation;   cerebral arteriovenous malformations;   congenital intracranial arteriovenous malformations;   intracranial AVM (arteriovenous malformation);   intracranial arteriovenous malformation;   intracranial arteriovenous malformations;   ruptured intracranial arteriovenous malformation
 narrow_synonym: CEREBRAL ARTERIOVENOUS MALFORMATIONS INTRACRANIAL HEMORRHAGE IN BRAIN ARTERIOVENOUS MALFORMATIONS, SUSCEPTIBILITY TO
 primary_id: MESH:D002538
 alt_id: OMIM:108010
 xref: EFO:0003916;   ICD10CM:Q28.2;   MONDO:0007154;   ORDO:46724

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arteriovenous malformations of the brain term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acvrl1 activin A receptor like type 1 ISO OMIM:108010 MouseDO NCBI chrNW_004936512:9,364,551...9,379,131
Ensembl chrNW_004936512:9,364,149...9,379,431 		JBrowse link
G Adgrv1 adhesion G protein-coupled receptor V1 ISO ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 NCBI chrNW_004936469:8,653,031...9,209,840 JBrowse link
G Braf B-Raf proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: Arteriovenous malformations of the brain | ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:12068308 PMID:12198537 PMID:12447372 PMID:12460918 PMID:12460919 More... NCBI chrNW_004936592:4,728,371...4,833,830
Ensembl chrNW_004936592:4,737,011...4,834,664 		JBrowse link
G Cacna1h calcium voltage-gated channel subunit alpha1 H ISO ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936694:2,702,224...2,724,574 JBrowse link
G Cdh2 cadherin 2 ISO ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 NCBI chrNW_004936550:6,885,484...7,067,001
Ensembl chrNW_004936550:6,886,706...6,945,056 		JBrowse link
G Egfr epidermal growth factor receptor ISO ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 NCBI chrNW_004936678:365,005...560,546
Ensembl chrNW_004936678:365,834...436,528 		JBrowse link
G Eng endoglin disease_progression ISO DNA:polymorphism: : 207G>A(human)
ClinVar Annotator: match by term: Cerebral arteriovenous malformation		 RGD
ClinVar		 PMID:15879500 PMID:24876084 PMID:25741868 PMID:28492532 PMID:30120215 RGD:11041171 NCBI chrNW_004936487:15,467,165...15,499,180
Ensembl chrNW_004936487:15,467,835...15,477,488 		JBrowse link
G Flt1 fms related receptor tyrosine kinase 1 ISO protein:increased expression:endothelial cell: RGD PMID:11220380 RGD:8551824 NCBI chrNW_004936472:23,442,946...23,617,523
Ensembl chrNW_004936472:23,440,088...23,617,041 		JBrowse link
G Gli2 GLI family zinc finger 2 ISO ClinVar Annotator: match by term: Arteriovenous malformations of the brain ClinVar PMID:25741868 NCBI chrNW_004936469:49,616,552...49,788,760
Ensembl chrNW_004936469:49,617,095...49,673,213 		JBrowse link
G Il17rd interleukin 17 receptor D ISO ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25636053 PMID:25741868 PMID:28492532 PMID:32389901 NCBI chrNW_004936473:7,447,292...7,507,819
Ensembl chrNW_004936473:7,447,292...7,507,830 		JBrowse link
G Il6 interleukin 6 ISO OMIM NCBI chrNW_004936549:7,015,595...7,016,246 JBrowse link
G Kdr kinase insert domain receptor ISO protein:increased expression:endothelial cell: RGD PMID:11220380 RGD:8551824 NCBI chrNW_004936482:17,537,697...17,581,320
Ensembl chrNW_004936482:17,538,864...17,581,002 		JBrowse link
G Kras KRAS proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Arteriovenous malformations of the brain
ClinVar Annotator: match by term: Arteriovenous malformations of the brain | ClinVar Annotator: match by term: Cerebral arteriovenous malformation		 OMIM
ClinVar		 PMID:2278970 PMID:3122217 PMID:7773929 PMID:8439212 PMID:12110640 More... NCBI chrNW_004936548:2,078,568...2,113,877
Ensembl chrNW_004936548:2,079,036...2,110,523 		JBrowse link
G Lemd3 LEM domain containing 3 ISO ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 NCBI chrNW_004936545:3,385,821...3,453,861
Ensembl chrNW_004936545:3,385,062...3,454,243 		JBrowse link
G Map4k4 mitogen-activated protein kinase kinase kinase kinase 4 ISO ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 NCBI chrNW_004936713:515,388...616,024
Ensembl chrNW_004936713:435,238...612,835 		JBrowse link
G Nlrp3 NLR family pyrin domain containing 3 ISO ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar NCBI chrNW_004936864:709,693...732,119
Ensembl chrNW_004936864:709,709...731,718 		JBrowse link
G Notch4 notch receptor 4 ISO ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 PMID:27231971 NCBI chrNW_004936727:1,386,842...1,409,823 JBrowse link
G Pdcd10 programmed cell death 10 ISO ClinVar Annotator: match by term: Arteriovenous malformations of the brain ClinVar PMID:9536098 PMID:16329096 PMID:17576681 PMID:24466005 PMID:25122144 More... NCBI chrNW_004936593:4,650,624...4,693,387
Ensembl chrNW_004936593:4,651,114...4,692,534 		JBrowse link
G Pitpnm3 PITPNM family member 3 ISO ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 NCBI chrNW_004936677:1,451,974...1,528,864
Ensembl chrNW_004936677:1,430,391...1,529,484 		JBrowse link
G Prex2 phosphatidylinositol-3,4,5-trisphosphate dependent Rac exchange factor 2 ISO ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 NCBI chrNW_004936496:6,005,410...6,284,332
Ensembl chrNW_004936496:6,008,277...6,284,346 		JBrowse link
G Sars1 seryl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 NCBI chrNW_004936704:747,109...766,981
Ensembl chrNW_004936704:746,775...771,305 		JBrowse link
G Scube2 signal peptide, CUB domain and EGF like domain containing 2 ISO ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 NCBI chrNW_004936528:8,981,079...9,060,033
Ensembl chrNW_004936528:8,981,077...9,061,261 		JBrowse link
G Syn3 synapsin III ISO ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 NCBI chrNW_004936492:6,836,441...7,253,867
Ensembl chrNW_004936492:6,876,684...7,253,375 		JBrowse link
G Timp3 TIMP metallopeptidase inhibitor 3 ISO ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 NCBI chrNW_004936492:6,996,627...7,046,137
Ensembl chrNW_004936492:6,996,613...7,046,190 		JBrowse link
G Vegfa vascular endothelial growth factor A ISO RGD PMID:16388189 RGD:1580567 NCBI chrNW_004936476:16,245,134...16,261,180
Ensembl chrNW_004936476:16,247,100...16,260,673 		JBrowse link
G Zfyve16 zinc finger FYVE-type containing 16 ISO ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 NCBI chrNW_004936549:8,082,464...8,110,116 JBrowse link
CEREBROFACIAL ARTERIOVENOUS METAMERIC SYNDROME term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC101971412 guanine nucleotide-binding protein subunit alpha-14 ISO ClinVar Annotator: match by term: Cerebrofacial arteriovenous metameric syndrome ClinVar NCBI chrNW_004936503:12,860,296...13,056,880
Ensembl chrNW_004936503:12,859,715...13,056,244 		JBrowse link
Vein of Galen Aneurysm term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cldn14 claudin 14 ISO ClinVar Annotator: match by term: Galen vein aneurysm ClinVar PMID:23991001 PMID:24033266 PMID:25741868 PMID:28492532 PMID:30578106 NCBI chrNW_004936500:6,207,856...6,227,582
Ensembl chrNW_004936500:6,226,618...6,227,337 		JBrowse link
G Ephb4 EPH receptor B4 ISO ClinVar Annotator: match by term: Galen vein aneurysm ClinVar PMID:30578106 NCBI chrNW_004936543:794,837...811,637
Ensembl chrNW_004936543:794,725...811,637 		JBrowse link
G Kat6a lysine acetyltransferase 6A ISO ClinVar Annotator: match by term: Galen vein aneurysm ClinVar PMID:30578106 NCBI chrNW_004936785:602,754...704,504
Ensembl chrNW_004936785:603,478...701,791 		JBrowse link
G Kel Kell metallo-endopeptidase (Kell blood group) ISO ClinVar Annotator: match by term: Galen vein aneurysm ClinVar PMID:30578106 NCBI chrNW_004936527:406,061...431,142
Ensembl chrNW_004936527:406,132...427,186 		JBrowse link
G Kmt2d lysine methyltransferase 2D ISO ClinVar Annotator: match by term: Galen vein aneurysm ClinVar PMID:28492532 PMID:30578106 NCBI chrNW_004936512:6,819,240...6,860,852
Ensembl chrNW_004936512:6,822,057...6,854,451 		JBrowse link
G Smarca2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 ISO ClinVar Annotator: match by term: Galen vein aneurysm ClinVar PMID:30578106 NCBI chrNW_004936503:2,835,512...3,001,365
Ensembl chrNW_004936503:2,835,496...3,001,381 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16465
    disease of anatomical entity 14117
      nervous system disease 12341
        Nervous System Malformations 2280
          Central Nervous System Vascular Malformations 51
            arteriovenous malformations of the brain 33
              CEREBROFACIAL ARTERIOVENOUS METAMERIC SYNDROME 1
              Lymphedema and Cerebral Arteriovenous Anomaly 0
              Vein of Galen Malformations + 6
Path 2
Term Annotations click to browse term
  disease 16465
    Developmental Disease 16381
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 16324
        Congenital Abnormalities 7061
          Cardiovascular Abnormalities 1470
            Vascular Malformations 117
              Central Nervous System Vascular Malformations 51
                arteriovenous malformations of the brain 33
                  CEREBROFACIAL ARTERIOVENOUS METAMERIC SYNDROME 1
                  Lymphedema and Cerebral Arteriovenous Anomaly 0
                  Vein of Galen Malformations + 6
paths to the root