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ONTOLOGY REPORT - ANNOTATIONS


Term:Central Nervous System Vascular Malformations
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Accession:DOID:9003443 term browser browse the term
Definition:Congenital, inherited, or acquired abnormalities involving ARTERIES; VEINS; or venous sinuses in the BRAIN; SPINAL CORD; and MENINGES.
Synonyms:exact_synonym: Brain Capillary Telangiectasia;   Brain Capillary Telangiectasias;   Brain Vascular Malformation;   Brain Vascular Malformations;   Central Nervous System Congenital Vascular Malformations;   Central Nervous System Vascular Anomalies;   Congenital Vascular Malformations, Central Nevous System;   Dural Arteriovenous Fistula;   Dural Arteriovenous Fistulas;   Persistent Cerebral Embryonic Artery;   Pontine Capillary Telangiectasia;   Pontine Capillary Telangiectasias;   Vascular Malformations, Congenital, Nervous System
 primary_id: MESH:D020785;   RDO:0005161
For additional species annotation, visit the Alliance of Genome Resources.


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Central Nervous System Vascular Malformations term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ccm2 CCM2 scaffold protein JBrowse link 14 86,812,728 86,859,408 RGD:1600689
G Col4a1 collagen type IV alpha 1 chain JBrowse link 16 83,522,162 83,632,153 RGD:1581204
arteriovenous malformations of the brain term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Acvrl1 activin A receptor like type 1 JBrowse link 7 142,769,942 142,787,336 RGD:13592920
G Adgrv1 adhesion G protein-coupled receptor V1 JBrowse link 2 8,926,843 9,504,455 RGD:8554872
G Braf B-Raf proto-oncogene, serine/threonine kinase JBrowse link 4 67,389,331 67,520,549 RGD:8554872
G Cacna1h calcium voltage-gated channel subunit alpha1 H JBrowse link 10 14,730,932 14,789,201 RGD:8554872
G Cdh2 cadherin 2 JBrowse link 18 8,146,971 8,366,037 RGD:8554872
G Egfr epidermal growth factor receptor JBrowse link 14 99,919,485 100,104,136 RGD:8554872
G Eng endoglin JBrowse link 3 11,679,530 11,717,486 RGD:11041171
RGD:8554872
RGD:13592920
RGD:11041564
G Flt1 Fms related receptor tyrosine kinase 1 JBrowse link 12 9,033,993 9,205,886 RGD:8551824
G Gli2 GLI family zinc finger 2 JBrowse link 13 34,829,021 35,049,172 RGD:8554872
G Il17rd interleukin 17 receptor D JBrowse link 16 2,670,471 2,737,271 RGD:8554872
G Il6 interleukin 6 JBrowse link 4 3,043,231 3,047,807 RGD:7240710
G Kdr kinase insert domain receptor JBrowse link 14 34,727,677 34,787,127 RGD:8551824
G Kras KRAS proto-oncogene, GTPase JBrowse link 4 179,482,562 179,515,483 RGD:7240710
RGD:8554872
G Lemd3 LEM domain containing 3 JBrowse link 7 62,976,671 63,045,860 RGD:8554872
G Map4k4 mitogen-activated protein kinase kinase kinase kinase 4 JBrowse link 9 46,657,444 46,782,545 RGD:8554872
G Notch4 notch receptor 4 JBrowse link 20 4,329,794 4,353,868 RGD:6480671
RGD:13592920
G Pdcd10 programmed cell death 10 JBrowse link 2 173,966,701 174,012,730 RGD:8554872
G Pitpnm3 PITPNM family member 3 JBrowse link 10 58,618,679 58,722,679 RGD:8554872
G Prex2 phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 JBrowse link 5 7,622,668 7,941,715 RGD:8554872
G Sars1 seryl-tRNA synthetase 1 JBrowse link 2 211,219,743 211,235,475 RGD:8554872
G Scube2 signal peptide, CUB domain and EGF like domain containing 2 JBrowse link 1 174,428,056 174,495,356 RGD:8554872
G Syn3 synapsin III JBrowse link 7 23,403,896 23,808,602 RGD:8554872
G Timp3 TIMP metallopeptidase inhibitor 3 JBrowse link 7 23,543,125 23,594,170 RGD:8554872
G Vegfa vascular endothelial growth factor A JBrowse link 9 17,340,341 17,355,681 RGD:1580567
G Zfyve16 zinc finger FYVE-type containing 16 JBrowse link 2 22,060,879 22,105,822 RGD:8554872
Cavernous Malformations of CNS and Retina term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Krit1 KRIT1, ankyrin repeat containing JBrowse link 4 27,438,609 27,473,150 RGD:8554872
cerebral cavernous malformation term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ankib1 ankyrin repeat and IBR domain containing 1 JBrowse link 4 27,473,477 27,597,206 RGD:8554872
G Ccm2 CCM2 scaffold protein JBrowse link 14 86,812,728 86,859,408 RGD:11554173
RGD:8554872
G Flt1 Fms related receptor tyrosine kinase 1 JBrowse link 12 9,033,993 9,205,886 RGD:8551824
G Kdr kinase insert domain receptor JBrowse link 14 34,727,677 34,787,127 RGD:8551824
G Krit1 KRIT1, ankyrin repeat containing JBrowse link 4 27,438,609 27,473,150 RGD:1358458
RGD:8554872
RGD:7240710
RGD:1598379
G Pdcd10 programmed cell death 10 JBrowse link 2 173,966,701 174,012,730 RGD:8554872
G Pon1 paraoxonase 1 JBrowse link 4 30,249,749 30,276,297 RGD:11552573
G Pten phosphatase and tensin homolog JBrowse link 1 251,421,814 251,487,634 RGD:12859036
G Serpini1 serpin family I member 1 JBrowse link 2 174,013,058 174,111,693 RGD:8554872
cerebral cavernous malformation 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Krit1 KRIT1, ankyrin repeat containing JBrowse link 4 27,438,609 27,473,150 RGD:8554872
RGD:7240710
cerebral cavernous malformation 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ccm2 CCM2 scaffold protein JBrowse link 14 86,812,728 86,859,408 RGD:7240710
RGD:8554872
G Nacad NAC alpha domain containing JBrowse link 14 86,860,607 86,868,605 RGD:8554872
cerebral cavernous malformation 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pdcd10 programmed cell death 10 JBrowse link 2 173,966,701 174,012,730 RGD:7240710
RGD:8554872
Familial Cerebral Cavernous Malformation term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ace angiotensin I converting enzyme JBrowse link 10 94,170,766 94,213,831 RGD:11039024
G Cand2 cullin-associated and neddylation-dissociated 2 (putative) JBrowse link 4 147,686,487 147,714,593 RGD:18899564
Hyperkeratotic Cutaneous Capillary-Venous Malformations Associated with Cerebral Capillary Malformations term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Krit1 KRIT1, ankyrin repeat containing JBrowse link 4 27,438,609 27,473,150 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15608
    disease of anatomical entity 14965
      nervous system disease 10397
        Nervous System Malformations 783
          Central Nervous System Vascular Malformations 35
            Cavernous Malformations of CNS and Retina 1
            Central Nervous System Venous Angioma 0
            Hyperkeratotic Cutaneous Capillary-Venous Malformations Associated with Cerebral Capillary Malformations 1
            Sinus Pericranii 0
            arteriovenous malformations of the brain + 25
            cerebral cavernous malformation + 12
Path 2
Term Annotations click to browse term
  disease 15608
    Developmental Diseases 8985
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7801
        Congenital Abnormalities 3898
          Cardiovascular Abnormalities 1023
            Vascular Malformations 72
              Central Nervous System Vascular Malformations 35
                Cavernous Malformations of CNS and Retina 1
                Central Nervous System Venous Angioma 0
                Hyperkeratotic Cutaneous Capillary-Venous Malformations Associated with Cerebral Capillary Malformations 1
                Sinus Pericranii 0
                arteriovenous malformations of the brain + 25
                cerebral cavernous malformation + 12
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.