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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: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.


show annotations for term's descendants           Sort by:
 
Central Nervous System Vascular Malformations term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CCM2 CCM2 scaffold protein susceptibility IAGP DNA:deletions: ; Cerebral cavernous malformations, OMIM:603284 RGD PMID:17160895 RGD:1600689 NCBI chr 7:44,999,746...45,076,470
Ensembl chr 7:44,999,475...45,076,469
JBrowse link
G COL4A1 collagen type IV alpha 1 chain IAGP DNA:snp:cds:p.G562E (human) RGD PMID:16598045 RGD:1581204 NCBI chr13:110,148,963...110,307,157
Ensembl chr13:110,148,963...110,307,157
JBrowse link
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 ISS OMIM:108010 MouseDO NCBI chr12:51,906,913...51,923,361
Ensembl chr12:51,906,908...51,923,361
JBrowse link
G ADGRV1 adhesion G protein-coupled receptor V1 IAGP ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 NCBI chr 5:90,558,796...91,164,437
Ensembl chr 5:90,529,344...91,164,437
JBrowse link
G BRAF B-Raf proto-oncogene, serine/threonine kinase IAGP ClinVar Annotator: match by term: Cerebral arteriovenous malformation
ClinVar Annotator: match by term: Arteriovenous malformations of the brain
ClinVar PMID:12068308 PMID:12198537 PMID:12447372 PMID:12460918 PMID:12460919 PMID:12619120 PMID:12644542 PMID:12670889 PMID:12794760 PMID:12960123 PMID:14513361 PMID:14602780 PMID:14679157 PMID:15001635 PMID:15035987 PMID:15126572 PMID:15181070 PMID:15342696 PMID:15356022 PMID:15386408 PMID:15687339 PMID:15998781 PMID:16015629 PMID:16174717 PMID:16187918 PMID:16772349 PMID:17374713 PMID:17488796 PMID:17785355 PMID:18398503 PMID:19001320 PMID:19010912 PMID:19018267 PMID:19238210 PMID:19404918 PMID:19537845 PMID:19561230 PMID:20008640 PMID:20350999 PMID:20413299 PMID:20619739 PMID:20630094 PMID:20818844 PMID:20823850 PMID:20857202 PMID:21107320 PMID:21107323 PMID:21129611 PMID:21156289 PMID:21163703 PMID:21426297 PMID:21483012 PMID:21502544 PMID:21639808 PMID:21641636 PMID:21683865 PMID:21975775 PMID:22038996 PMID:22048237 PMID:22113612 PMID:22180495 PMID:22281684 PMID:22351686 PMID:22356324 PMID:22389471 PMID:22448344 PMID:22536370 PMID:22586120 PMID:22608338 PMID:22649091 PMID:22663011 PMID:22735384 PMID:22743296 PMID:22773810 PMID:22805292 PMID:22972589 PMID:22997239 PMID:23020132 PMID:23031422 PMID:23251002 PMID:23302800 PMID:23325582 PMID:23470635 PMID:23524406 PMID:23549875 PMID:23614898 PMID:23685455 PMID:23812671 PMID:23833300 PMID:23845441 PMID:23918947 PMID:24107445 PMID:24112392 PMID:24163374 PMID:24388723 PMID:24508103 PMID:24512911 PMID:24576830 PMID:24583796 PMID:24586605 PMID:24594804 PMID:24670642 PMID:24717435 PMID:25024077 PMID:25037139 PMID:25079330 PMID:25157968 PMID:25265492 PMID:25265494 PMID:25370471 PMID:25399551 PMID:25741868 PMID:25950823 PMID:25989278 PMID:26619011 PMID:26678033 PMID:27404270 PMID:27480103 PMID:28854169 PMID:28891408 PMID:29925953 PMID:31779674 PMID:31891627 NCBI chr 7:140,713,328...140,924,929
Ensembl chr 7:140,719,327...140,924,929
Ensembl chr 7:140,719,327...140,924,929
JBrowse link
G CACNA1H calcium voltage-gated channel subunit alpha1 H IAGP ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 NCBI chr16:1,153,106...1,221,769
Ensembl chr16:1,153,106...1,221,771
JBrowse link
G CDH2 cadherin 2 IAGP ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 NCBI chr18:27,932,878...28,177,130
Ensembl chr18:27,932,879...28,177,946
Ensembl chr18:27,932,879...28,177,946
JBrowse link
G EGFR epidermal growth factor receptor IAGP ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 NCBI chr 7:55,019,017...55,211,628
Ensembl chr 7:55,019,017...55,211,628
JBrowse link
G ENG endoglin disease_progression IAGP
ISS
ISO
ClinVar Annotator: match by term: Cerebral arteriovenous malformation
OMIM:108010
DNA:polymorphism: : 207G>A(human)
ClinVar
MouseDO
PMID:25741868, PMID:16179574, PMID:24520391, PMID:24876084 RGD:1580962, RGD:11041564, RGD:11041171 NCBI chr 9:127,815,012...127,854,773
Ensembl chr 9:127,815,013...127,854,658
Ensembl chr 9:127,815,013...127,854,658
JBrowse link
G FLT1 fms related receptor tyrosine kinase 1 IEP protein:increased expression:endothelial cell: RGD PMID:11220380 RGD:8551824 NCBI chr13:28,300,346...28,495,128
Ensembl chr13:28,300,346...28,495,145
JBrowse link
G GLI2 GLI family zinc finger 2 IAGP ClinVar Annotator: match by term: Arteriovenous malformations of the brain ClinVar PMID:25741868 NCBI chr 2:120,735,868...120,992,653
Ensembl chr 2:120,735,623...120,992,653
JBrowse link
G IL17RD interleukin 17 receptor D IAGP ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25636053 PMID:25741868 NCBI chr 3:57,089,982...57,170,317
Ensembl chr 3:57,089,982...57,170,306
JBrowse link
G IL6 interleukin 6 IAGP OMIM NCBI chr 7:22,725,889...22,732,002
Ensembl chr 7:22,725,884...22,732,002
JBrowse link
G KDR kinase insert domain receptor IEP protein:increased expression:endothelial cell: RGD PMID:11220380 RGD:8551824 NCBI chr 4:55,078,481...55,125,595
Ensembl chr 4:55,078,481...55,125,595
JBrowse link
G KRAS KRAS proto-oncogene, GTPase IAGP ClinVar Annotator: match by term: Arteriovenous malformations of the brain OMIM
ClinVar
PMID:2278970 PMID:3122217 PMID:7773929 PMID:8439212 PMID:12460918 PMID:15696205 PMID:15842656 PMID:16361624 PMID:16434492 PMID:16618717 PMID:17332249 PMID:17384584 PMID:17704260 PMID:17910045 PMID:18316791 PMID:18794081 PMID:19018267 PMID:19029981 PMID:19047918 PMID:19075190 PMID:19114683 PMID:19255327 PMID:19358724 PMID:19679400 PMID:19773371 PMID:19881948 PMID:20609353 PMID:20805368 PMID:20921462 PMID:20921465 PMID:20949522 PMID:21079152 PMID:21169357 PMID:21228335 PMID:21398618 PMID:21975775 PMID:22025163 PMID:22235099 PMID:22407852 PMID:22499344 PMID:22683711 PMID:22897852 PMID:23014527 PMID:23096712 PMID:23406027 PMID:24033266 PMID:25044103 PMID:25157968 PMID:25695684 PMID:26372703 PMID:28492532 PMID:29298116 PMID:31891627 NCBI chr12:25,205,246...25,250,929
Ensembl chr12:25,205,246...25,250,936
JBrowse link
G LEMD3 LEM domain containing 3 IAGP ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 NCBI chr12:65,169,583...65,248,355
Ensembl chr12:65,169,583...65,248,355
JBrowse link
G MAP4K4 mitogen-activated protein kinase kinase kinase kinase 4 IAGP ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 NCBI chr 2:101,697,707...101,894,690
Ensembl chr 2:101,696,850...101,894,689
JBrowse link
G NOTCH4 notch receptor 4 ISO
ISS
OMIM:108010 MouseDO PMID:19546852 RGD:6480671 NCBI chr 6:32,194,843...32,224,067
Ensembl chr 6:32,194,843...32,224,067
JBrowse link
G PDCD10 programmed cell death 10 IAGP ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:167,683,298...167,735,810
Ensembl chr 3:167,683,298...167,734,939
JBrowse link
G PITPNM3 PITPNM family member 3 IAGP ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 NCBI chr17:6,451,263...6,556,555
Ensembl chr17:6,451,263...6,556,555
JBrowse link
G PREX2 phosphatidylinositol-3,4,5-trisphosphate dependent Rac exchange factor 2 IAGP ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 NCBI chr 8:67,951,918...68,237,032
Ensembl chr 8:67,952,046...68,237,032
JBrowse link
G SARS1 seryl-tRNA synthetase 1 IAGP ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 NCBI chr 1:109,213,893...109,238,182
Ensembl chr 1:109,213,918...109,238,182
JBrowse link
G SCUBE2 signal peptide, CUB domain and EGF like domain containing 2 IAGP ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 NCBI chr11:9,019,476...9,091,599
Ensembl chr11:9,019,498...9,138,114
Ensembl chr11:9,019,498...9,138,114
JBrowse link
G SYN3 synapsin III IAGP ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 NCBI chr22:32,507,820...33,058,381
Ensembl chr22:32,507,820...33,058,381
Ensembl chr22:32,507,820...33,058,381
JBrowse link
G TIMP3 TIMP metallopeptidase inhibitor 3 IAGP ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 NCBI chr22:32,801,705...32,863,041
Ensembl chr22:32,801,705...32,863,041
Ensembl chr22:32,801,705...32,863,041
JBrowse link
G VEGFA vascular endothelial growth factor A IEP RGD PMID:16388189 RGD:1580567 NCBI chr 6:43,770,209...43,786,487
Ensembl chr 6:43,770,184...43,786,487
JBrowse link
G ZFYVE16 zinc finger FYVE-type containing 16 IAGP ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 NCBI chr 5:80,407,615...80,483,379
Ensembl chr 5:80,408,013...80,483,379
JBrowse link
Cavernous Malformations of CNS and Retina term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KRIT1 KRIT1 ankyrin repeat containing IAGP ClinVar Annotator: match by term: Cavernous malformations of CNS and retina ClinVar PMID:11831930 NCBI chr 7:92,198,969...92,246,100
Ensembl chr 7:92,131,774...92,245,924
Ensembl chr 7:92,131,774...92,245,924
JBrowse link
Central Nervous System Venous Angioma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CCNH cyclin H IAGP ClinVar Annotator: match by term: Cerebral venous angioma ClinVar PMID:23650393 PMID:25741868 PMID:31680349 NCBI chr 5:87,311,471...87,412,971
Ensembl chr 5:87,318,416...87,412,930
JBrowse link
G RASA1 RAS p21 protein activator 1 IAGP ClinVar Annotator: match by term: Cerebral venous angioma ClinVar PMID:23650393 PMID:25741868 PMID:31680349 NCBI chr 5:87,267,845...87,391,916
Ensembl chr 5:87,267,883...87,391,931
JBrowse link
cerebral cavernous malformation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANKIB1 ankyrin repeat and IBR domain containing 1 IAGP ClinVar Annotator: match by term: Cerebral cavernous malformation ClinVar PMID:25741868 NCBI chr 7:92,245,974...92,401,383
Ensembl chr 7:92,245,974...92,401,383
JBrowse link
G CCM2 CCM2 scaffold protein EXP
IAGP
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cerebral cavernous malformation
CTD
ClinVar
PMID:18154020 PMID:25525273 PMID:25741868 PMID:28492532 NCBI chr 7:44,999,746...45,076,470
Ensembl chr 7:44,999,475...45,076,469
JBrowse link
G FLT1 fms related receptor tyrosine kinase 1 IEP protein:increased expression:endothelial cell: RGD PMID:11220380 RGD:8551824 NCBI chr13:28,300,346...28,495,128
Ensembl chr13:28,300,346...28,495,145
JBrowse link
G KDR kinase insert domain receptor IEP protein:increased expression:endothelial cell: RGD PMID:11220380 RGD:8551824 NCBI chr 4:55,078,481...55,125,595
Ensembl chr 4:55,078,481...55,125,595
JBrowse link
G KRIT1 KRIT1 ankyrin repeat containing susceptibility IAGP
EXP
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cerebral cavernous malformation
ClinVar Annotator: match by term: Cerebral cavernous malformations 1
CTD
ClinVar
PMID:3393196 PMID:7898703 PMID:9065560 PMID:10508515 PMID:10545614 PMID:10814716 PMID:11161805 PMID:11222804 PMID:11914398 PMID:11959162 PMID:12404106 PMID:12810002 PMID:12854741 PMID:15079030 PMID:17187287 PMID:17211633 PMID:18383588 PMID:19088123 PMID:19454328 PMID:20419355 PMID:20798775 PMID:21029238 PMID:23584803 PMID:23595507 PMID:24401931 PMID:24466005 PMID:24689081 PMID:24721395 PMID:25525273 PMID:25741868 PMID:26467025 PMID:28492532 PMID:28645800 PMID:28745674 PMID:30161288, PMID:15079030, PMID:14755725 RGD:1598379, RGD:1358458 NCBI chr 7:92,198,969...92,246,100
Ensembl chr 7:92,131,774...92,245,924
Ensembl chr 7:92,131,774...92,245,924
JBrowse link
G LOC113748416 Sharpr-MPRA regulatory region 5961 IAGP ClinVar Annotator: match by term: Cerebral cavernous malformation ClinVar PMID:25741868 NCBI chr 7:92,245,795...92,246,089 JBrowse link
G MIR1285-1 microRNA 1285-1 IAGP ClinVar Annotator: match by term: Cerebral cavernous malformation ClinVar PMID:17187287 PMID:17211633 PMID:20798775 PMID:28492532 NCBI chr 7:92,204,015...92,204,098
Ensembl chr 7:92,204,015...92,204,098
JBrowse link
G PDCD10 programmed cell death 10 IAGP ClinVar Annotator: match by term: Cerebral cavernous malformation ClinVar PMID:28492532 NCBI chr 3:167,683,298...167,735,810
Ensembl chr 3:167,683,298...167,734,939
JBrowse link
G PON1 paraoxonase 1 susceptibility IAGP DNA:missense mutations:cds:p.L55M, p.Q192R (human) RGD PMID:26122242 RGD:11552573 NCBI chr 7:95,297,676...95,324,532
Ensembl chr 7:95,297,676...95,324,532
JBrowse link
G PTEN phosphatase and tensin homolog IEP protein:decreased expression:brain (human) RGD PMID:19061355 RGD:12859036 NCBI chr10:87,863,625...87,971,930
Ensembl chr10:87,863,625...87,971,930
JBrowse link
G SERPINI1 serpin family I member 1 IAGP ClinVar Annotator: match by term: Cerebral cavernous malformation ClinVar NCBI chr 3:167,735,721...167,825,569
Ensembl chr 3:167,735,243...167,825,569
Ensembl chr 3:167,735,243...167,825,569
JBrowse link
cerebral cavernous malformation 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KRIT1 KRIT1 ankyrin repeat containing IAGP ClinVar Annotator: match by term: Cerebral cavernous malformations 1 ClinVar
OMIM
PMID:3393196 PMID:7898703 PMID:9065560 PMID:10508515 PMID:10545614 PMID:10814716 PMID:11222804 PMID:11310633 PMID:11914398 PMID:11941540 PMID:12404106 PMID:12854741 PMID:17562932 PMID:19088123 PMID:19454328 PMID:24401931 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 7:92,198,969...92,246,100
Ensembl chr 7:92,131,774...92,245,924
Ensembl chr 7:92,131,774...92,245,924
JBrowse link
cerebral cavernous malformation 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CCM2 CCM2 scaffold protein IAGP ClinVar Annotator: match by term: Cerebral cavernous malformations 2 OMIM
ClinVar
PMID:2468908 PMID:14624391 PMID:14740320 PMID:15122722 PMID:17160895 PMID:18060436 PMID:18300272 PMID:19088123 PMID:19088124 PMID:20419355 PMID:23595507 PMID:24466005 PMID:25525273 PMID:25741868 PMID:26467025 PMID:27153162 PMID:27561926 PMID:27792856 PMID:28492532 PMID:28655553 PMID:32860008 NCBI chr 7:44,999,746...45,076,470
Ensembl chr 7:44,999,475...45,076,469
JBrowse link
G NACAD NAC alpha domain containing IAGP ClinVar Annotator: match by term: Cerebral cavernous malformations 2 ClinVar PMID:17160895 PMID:28492532 NCBI chr 7:45,080,432...45,089,452
Ensembl chr 7:45,080,437...45,088,969
JBrowse link
cerebral cavernous malformation 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PDCD10 programmed cell death 10 IAGP ClinVar Annotator: match by term: Cerebral cavernous malformations 3 OMIM
ClinVar
PMID:15543491 PMID:18035376 PMID:18060436 PMID:20623299 PMID:23485406 PMID:23595507 PMID:23801932 PMID:25354366 PMID:25741868 PMID:26896283 PMID:28492532 PMID:30161288 NCBI chr 3:167,683,298...167,735,810
Ensembl chr 3:167,683,298...167,734,939
JBrowse link
G SERPINI1 serpin family I member 1 IAGP ClinVar Annotator: match by term: Cerebral cavernous malformations 3 ClinVar PMID:18060436 PMID:20623299 PMID:28492532 NCBI chr 3:167,735,721...167,825,569
Ensembl chr 3:167,735,243...167,825,569
Ensembl chr 3:167,735,243...167,825,569
JBrowse link
Familial Cerebral Cavernous Malformation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACE angiotensin I converting enzyme IAGP DNA:deletion:intron:IVS16+1464-1751del (human) RGD PMID:20488708 RGD:11039024 NCBI chr17:63,477,061...63,498,373
Ensembl chr17:63,477,061...63,498,380
JBrowse link
G CAND2 cullin associated and neddylation dissociated 2 (putative) ISO RGD PMID:31426861 RGD:18899564 NCBI chr 3:12,796,654...12,834,818
Ensembl chr 3:12,796,472...12,871,916
JBrowse link
Hyperkeratotic Cutaneous Capillary-Venous Malformations Associated with Cerebral Capillary Malformations term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KRIT1 KRIT1 ankyrin repeat containing IAGP ClinVar Annotator: match by term: Hyperkeratotic cutaneous capillary-venous malformations associated with cerebral capillary malformations ClinVar PMID:10814716 NCBI chr 7:92,198,969...92,246,100
Ensembl chr 7:92,131,774...92,245,924
Ensembl chr 7:92,131,774...92,245,924
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18996
    disease of anatomical entity 17481
      nervous system disease 13545
        Nervous System Malformations 1155
          Central Nervous System Vascular Malformations 39
            Cavernous Malformations of CNS and Retina 1
            Central Nervous System Venous Angioma 2
            Hyperkeratotic Cutaneous Capillary-Venous Malformations Associated with Cerebral Capillary Malformations 1
            Sinus Pericranii 0
            arteriovenous malformations of the brain + 25
            cerebral cavernous malformation + 14
Path 2
Term Annotations click to browse term
  disease 18996
    Developmental Disease 12271
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 10081
        Congenital Abnormalities 5787
          Cardiovascular Abnormalities 1238
            Vascular Malformations 78
              Central Nervous System Vascular Malformations 39
                Cavernous Malformations of CNS and Retina 1
                Central Nervous System Venous Angioma 2
                Hyperkeratotic Cutaneous Capillary-Venous Malformations Associated with Cerebral Capillary Malformations 1
                Sinus Pericranii 0
                arteriovenous malformations of the brain + 25
                cerebral cavernous malformation + 14
paths to the root