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
Accession: DOID:9003443
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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Ccm2
CCM2 scaffold protein
susceptibility
ISO
DNA:deletions: ; Cerebral cavernous malformations, OMIM:603284
RGD
PMID:17160895
RGD:1600689
NCBI chr14:86,812,728...86,859,408
Ensembl chr14:86,813,082...86,859,406
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Col4a1
collagen type IV alpha 1 chain
ISO
RGD
PMID:16598045
RGD:1581204
NCBI chr16:83,522,162...83,632,153
Ensembl chr16:83,522,162...83,632,153
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Acvrl1
activin A receptor like type 1
ISS
OMIM:108010
MouseDO
NCBI chr 7:142,769,942...142,787,336
Ensembl chr 7:142,776,252...142,787,335
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Adgrv1
adhesion G protein-coupled receptor V1
ISO
ClinVar Annotator: match by term: Cerebral arteriovenous malformation
ClinVar
PMID:25741868
NCBI chr 2:8,926,843...9,504,455
Ensembl chr 2:8,926,850...9,504,134
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Braf
B-Raf proto-oncogene, serine/threonine kinase
ISO
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 4:67,389,331...67,520,549
Ensembl chr 4:67,396,192...67,520,356
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Cacna1h
calcium voltage-gated channel subunit alpha1 H
ISO
ClinVar Annotator: match by term: Cerebral arteriovenous malformation
ClinVar
PMID:25741868
NCBI chr10:14,730,932...14,789,201
Ensembl chr10:14,730,941...14,788,617
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Cdh2
cadherin 2
ISO
ClinVar Annotator: match by term: Cerebral arteriovenous malformation
ClinVar
PMID:25741868
NCBI chr18:8,146,971...8,366,037
Ensembl chr18:8,146,971...8,360,684
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Egfr
epidermal growth factor receptor
ISO
ClinVar Annotator: match by term: Cerebral arteriovenous malformation
ClinVar
PMID:25741868
NCBI chr14:99,919,485...100,104,136
Ensembl chr14:99,919,485...100,098,796
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Eng
endoglin
disease_progression
ISO ISS
DNA:polymorphism: : 207G>A(human) ClinVar Annotator: match by term: Cerebral arteriovenous malformation OMIM:108010
ClinVar MouseDO
PMID:25741868 , PMID:24876084 , PMID:24520391
RGD:11041171 , RGD:11041564
NCBI chr 3:11,679,530...11,717,486
Ensembl chr 3:11,679,530...11,717,485
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Flt1
Fms related receptor tyrosine kinase 1
ISO
protein:increased expression:endothelial cell:
RGD
PMID:11220380
RGD:8551824
NCBI chr12:9,033,993...9,205,886
Ensembl chr12:9,034,308...9,205,905
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Gli2
GLI family zinc finger 2
ISO
ClinVar Annotator: match by term: Arteriovenous malformations of the brain
ClinVar
PMID:25741868
NCBI chr13:34,829,021...35,049,172
Ensembl chr13:34,829,139...35,048,444
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Il17rd
interleukin 17 receptor D
ISO
ClinVar Annotator: match by term: Cerebral arteriovenous malformation
ClinVar
PMID:25636053 PMID:25741868
NCBI chr16:2,670,471...2,737,271
Ensembl chr16:2,670,618...2,731,808
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Il6
interleukin 6
ISO
OMIM
NCBI chr 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807
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Kdr
kinase insert domain receptor
ISO
protein:increased expression:endothelial cell:
RGD
PMID:11220380
RGD:8551824
NCBI chr14:34,727,677...34,787,127
Ensembl chr14:34,727,623...34,787,183
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Kras
KRAS proto-oncogene, GTPase
ISO
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 chr 4:179,482,562...179,515,483
Ensembl chr 4:179,486,105...179,515,558
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Lemd3
LEM domain containing 3
ISO
ClinVar Annotator: match by term: Cerebral arteriovenous malformation
ClinVar
PMID:25741868
NCBI chr 7:62,976,671...63,045,860
Ensembl chr 7:62,996,336...63,045,728
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Map4k4
mitogen-activated protein kinase kinase kinase kinase 4
ISO
ClinVar Annotator: match by term: Cerebral arteriovenous malformation
ClinVar
PMID:25741868
NCBI chr 9:46,657,444...46,782,545
Ensembl chr 9:46,657,575...46,782,545
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Notch4
notch receptor 4
ISO ISS
OMIM:108010
MouseDO
PMID:19546852
RGD:6480671
NCBI chr20:4,329,794...4,353,868
Ensembl chr20:4,329,811...4,353,785
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Pdcd10
programmed cell death 10
ISO
ClinVar Annotator: match by term: Cerebral arteriovenous malformation
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 2:173,966,701...174,012,730
Ensembl chr 2:173,967,080...174,012,676
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Pitpnm3
PITPNM family member 3
ISO
ClinVar Annotator: match by term: Cerebral arteriovenous malformation
ClinVar
PMID:25741868
NCBI chr10:58,618,679...58,722,679
Ensembl chr10:58,618,645...58,693,754
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Prex2
phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2
ISO
ClinVar Annotator: match by term: Cerebral arteriovenous malformation
ClinVar
PMID:25741868
NCBI chr 5:7,622,668...7,941,715
Ensembl chr 5:7,627,771...7,941,822
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Sars1
seryl-tRNA synthetase 1
ISO
ClinVar Annotator: match by term: Cerebral arteriovenous malformation
ClinVar
PMID:25741868
NCBI chr 2:211,219,743...211,235,475
Ensembl chr 2:211,219,750...211,235,467
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Scube2
signal peptide, CUB domain and EGF like domain containing 2
ISO
ClinVar Annotator: match by term: Cerebral arteriovenous malformation
ClinVar
PMID:25741868
NCBI chr 1:174,428,056...174,495,356
Ensembl chr 1:174,428,699...174,495,258
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Syn3
synapsin III
ISO
ClinVar Annotator: match by term: Cerebral arteriovenous malformation
ClinVar
PMID:25741868
NCBI chr 7:23,403,896...23,808,602
Ensembl chr 7:23,403,891...23,808,602
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Timp3
TIMP metallopeptidase inhibitor 3
ISO
ClinVar Annotator: match by term: Cerebral arteriovenous malformation
ClinVar
PMID:25741868
NCBI chr 7:23,543,125...23,594,170
Ensembl chr 7:23,544,215...23,594,133
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Vegfa
vascular endothelial growth factor A
ISO
RGD
PMID:16388189
RGD:1580567
NCBI chr 9:17,340,341...17,355,681
Ensembl chr 9:17,340,341...17,355,681
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Zfyve16
zinc finger FYVE-type containing 16
ISO
ClinVar Annotator: match by term: Cerebral arteriovenous malformation
ClinVar
PMID:25741868
NCBI chr 2:22,060,879...22,105,822
Ensembl chr 2:22,062,050...22,105,710
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Krit1
KRIT1, ankyrin repeat containing
ISO
ClinVar Annotator: match by term: Cavernous malformations of CNS and retina
ClinVar
PMID:11831930
NCBI chr 4:27,438,609...27,473,150
Ensembl chr 4:27,438,609...27,473,150
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Ccnh
cyclin H
ISO
ClinVar Annotator: match by term: Cerebral venous angioma
ClinVar
PMID:23650393 PMID:25741868 PMID:31680349
NCBI chr 2:13,593,100...13,613,910
Ensembl chr 2:13,593,100...13,613,910
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Rasa1
RAS p21 protein activator 1
ISO
ClinVar Annotator: match by term: Cerebral venous angioma
ClinVar
PMID:23650393 PMID:25741868 PMID:31680349
NCBI chr 2:13,617,021...13,696,531
Ensembl chr 2:13,616,822...13,696,426
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Ankib1
ankyrin repeat and IBR domain containing 1
ISO
ClinVar Annotator: match by term: Cerebral cavernous malformation
ClinVar
PMID:25741868
NCBI chr 4:27,473,477...27,597,206
Ensembl chr 4:27,473,477...27,597,206
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Ccm2
CCM2 scaffold protein
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Cerebral cavernous malformation
CTD ClinVar
PMID:18154020 PMID:25525273 PMID:25741868 PMID:28492532
NCBI chr14:86,812,728...86,859,408
Ensembl chr14:86,813,082...86,859,406
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Flt1
Fms related receptor tyrosine kinase 1
ISO
protein:increased expression:endothelial cell:
RGD
PMID:11220380
RGD:8551824
NCBI chr12:9,033,993...9,205,886
Ensembl chr12:9,034,308...9,205,905
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Kdr
kinase insert domain receptor
ISO
protein:increased expression:endothelial cell:
RGD
PMID:11220380
RGD:8551824
NCBI chr14:34,727,677...34,787,127
Ensembl chr14:34,727,623...34,787,183
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Krit1
KRIT1, ankyrin repeat containing
susceptibility
ISO ISS
ClinVar Annotator: match by term: Cerebral cavernous malformation ClinVar Annotator: match by OMIM:116860
MouseDO 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:14755725 , PMID:15079030
RGD:1358458 , RGD:1598379
NCBI chr 4:27,438,609...27,473,150
Ensembl chr 4:27,438,609...27,473,150
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Pdcd10
programmed cell death 10
ISO
ClinVar Annotator: match by term: Cerebral cavernous malformation
ClinVar
PMID:28492532
NCBI chr 2:173,966,701...174,012,730
Ensembl chr 2:173,967,080...174,012,676
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Pon1
paraoxonase 1
susceptibility
ISO
DNA:missense mutations:cds:p.L55M, p.Q192R (human)
RGD
PMID:26122242
RGD:11552573
NCBI chr 4:30,249,749...30,276,297
Ensembl chr 4:30,249,742...30,276,372
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Pten
phosphatase and tensin homolog
ISO
protein:decreased expression:brain (human)
RGD
PMID:19061355
RGD:12859036
NCBI chr 1:251,421,814...251,487,634
Ensembl chr 1:251,421,596...251,487,832
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Serpini1
serpin family I member 1
ISO
ClinVar Annotator: match by term: Cerebral cavernous malformation
ClinVar
NCBI chr 2:174,013,058...174,111,693
Ensembl chr 2:174,013,288...174,111,752
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Krit1
KRIT1, ankyrin repeat containing
ISO
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 4:27,438,609...27,473,150
Ensembl chr 4:27,438,609...27,473,150
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Ccm2
CCM2 scaffold protein
ISO
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 chr14:86,812,728...86,859,408
Ensembl chr14:86,813,082...86,859,406
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Nacad
NAC alpha domain containing
ISO
ClinVar Annotator: match by term: Cerebral cavernous malformations 2
ClinVar
PMID:17160895 PMID:28492532
NCBI chr14:86,860,607...86,868,605
Ensembl chr14:86,860,608...86,868,598
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Pdcd10
programmed cell death 10
ISO
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 2:173,966,701...174,012,730
Ensembl chr 2:173,967,080...174,012,676
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Serpini1
serpin family I member 1
ISO
ClinVar Annotator: match by term: Cerebral cavernous malformations 3
ClinVar
PMID:18060436 PMID:20623299 PMID:28492532
NCBI chr 2:174,013,058...174,111,693
Ensembl chr 2:174,013,288...174,111,752
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Ace
angiotensin I converting enzyme
ISO
DNA:deletion:intron:IVS16+1464-1751del (human)
RGD
PMID:20488708
RGD:11039024
NCBI chr10:94,170,766...94,213,831
Ensembl chr10:94,170,766...94,187,822
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Cand2
cullin-associated and neddylation-dissociated 2 (putative)
ISO
RGD
PMID:31426861
RGD:18899564
NCBI chr 4:147,686,487...147,714,593
Ensembl chr 4:147,686,490...147,714,585
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Krit1
KRIT1, ankyrin repeat containing
ISO
ClinVar Annotator: match by term: Hyperkeratotic cutaneous capillary-venous malformations associated with cerebral capillary malformations
ClinVar
PMID:10814716
NCBI chr 4:27,438,609...27,473,150
Ensembl chr 4:27,438,609...27,473,150
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