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 malformation
Accession: DOID:11294
browse the term
Definition: A hemangioma that is characterized by a configuration of blood vessels that shunts arterial blood directly into veins by bypassing the capillary system. (DO)
Synonyms: exact_synonym: arteriovenous hemangioma; arteriovenous malformations; cirsoid aneurysm; racemose aneurysm; racemose angioma; racemose hemangioma
primary_id: MESH:D001165
xref: ICD10CM:I77.0 ; ICDO:9123/0; NCI:C2882
For additional species annotation, visit the
Alliance of Genome Resources .
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Acvrl1
activin A receptor, type II-like 1
IMP
RGD
PMID:11062473
RGD:1300250
NCBI chr15:101,026,403...101,043,217
Ensembl chr15:101,026,403...101,043,217
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Eng
endoglin
susceptibility
ISO IMP
associated with Telangiectasia, Hereditary Hemorrhagic;
RGD
PMID:8728706 PMID:24520391
RGD:11041184 , RGD:11041564
NCBI chr 2:32,536,607...32,572,681
Ensembl chr 2:32,536,607...32,572,681
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Ephb4
Eph receptor B4
ISO
ClinVar Annotator: match by term: Arteriovenous malformation
ClinVar
PMID:25741868 PMID:28687708 PMID:30578106 PMID:30760892
NCBI chr 5:137,348,371...137,372,784
Ensembl chr 5:137,348,371...137,376,931
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Glmn
glomulin, FKBP associated protein
ISO
glomuvenous malformations
RGD
PMID:11845407
RGD:1598992
NCBI chr 5:107,696,828...107,745,754
Ensembl chr 5:107,696,833...107,745,754
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Map2
microtubule-associated protein 2
ISO
protein:decreased expression:hippocampus
RGD
PMID:20873448
RGD:6483324
NCBI chr 1:66,214,337...66,481,742
Ensembl chr 1:66,214,432...66,481,742
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Mir10a
microRNA 10a
ISO
miRNA:decreased expression:blood plasma (human)
RGD
PMID:23051042
RGD:155582214
NCBI chr11:96,207,991...96,208,100
Ensembl chr11:96,207,991...96,208,100
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Mir193a
microRNA 193a
ISO
miRNA:decreased expression:blood plasma (human)
RGD
PMID:23051042
RGD:155582214
NCBI chr11:79,602,795...79,602,860
Ensembl chr11:79,602,795...79,602,860
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Mir210
microRNA 210
ISO
associated with hereditary hemorrhagic telangiectasia; miRNA:increased expression:blood plasma (human)
RGD
PMID:23051042
RGD:155582214
NCBI chr 7:140,801,297...140,801,406
Ensembl chr 7:140,801,297...140,801,406
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Mir214
microRNA 214
ISO
miRNA:increased expression:blood plasma (human)
RGD
PMID:23051042
RGD:155582214
NCBI chr 1:162,050,937...162,051,046
Ensembl chr 1:162,050,937...162,051,046
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Mir34a
microRNA 34a
ISO
miRNA:increased expression:blood plasma (human)
RGD
PMID:23051042
RGD:155582214
NCBI chr 4:150,152,911...150,153,012
Ensembl chr 4:150,152,911...150,153,012
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Mir486
microRNA 486
ISO
miRNA:increased expression:blood plasma (human)
RGD
PMID:23051042
RGD:155582214
NCBI chr 8:23,632,571...23,632,698
Ensembl chr 8:23,632,571...23,632,698
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Mmp9
matrix metallopeptidase 9
ISO
RGD
PMID:16720380
RGD:1582655
NCBI chr 2:164,782,246...164,797,770
Ensembl chr 2:164,782,700...164,797,770
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Pik3ca
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha
ISO
ClinVar Annotator: match by term: Arteriovenous malformation
ClinVar
NCBI chr 3:32,451,203...32,520,256
Ensembl chr 3:32,451,820...32,522,635
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Rasa1
RAS p21 protein activator 1
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:14639529 PMID:15917201
RGD:1581296
NCBI chr13:85,362,893...85,437,487
Ensembl chr13:85,362,899...85,437,249
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Tek
TEK receptor tyrosine kinase
susceptibility
ISO
DNA:missense mutation: :p.R849W
RGD
PMID:8980225
RGD:1578533
NCBI chr 4:94,627,322...94,763,213
Ensembl chr 4:94,627,526...94,763,213
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Ankib1
ankyrin repeat and IBR domain containing 1
ISO
ClinVar Annotator: match by term: Angiokeratoma corporis diffusum with arteriovenous fistulas
ClinVar
PMID:25741868
NCBI chr 5:3,739,999...3,853,124
Ensembl chr 5:3,740,000...3,852,925
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Krit1
KRIT1, ankyrin repeat containing
ISO
ClinVar Annotator: match by term: Angiokeratoma corporis diffusum with arteriovenous fistulas
ClinVar
PMID:20419355 PMID:25525273 PMID:25741868 PMID:26467025 PMID:28492532
NCBI chr 5:3,853,156...3,894,515
Ensembl chr 5:3,853,184...3,895,564
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Ace
angiotensin I converting enzyme
treatment
ISO
protein:increased activity:heart left ventricle (rat)
RGD
PMID:22768235 PMID:8386093
RGD:12859285 , RGD:12880017
NCBI chr11:105,858,774...105,880,790
Ensembl chr11:105,858,771...105,880,790
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Ackr1
atypical chemokine receptor 1 (Duffy blood group)
ISO
RGD
PMID:24429330
RGD:9681736
NCBI chr 1:173,159,457...173,161,079
Ensembl chr 1:173,159,453...173,161,317
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Angpt2
angiopoietin 2
ISO
mRNA:increased expression:lung (rat)
RGD
PMID:18692629
RGD:2314184
NCBI chr 8:18,740,279...18,791,578
Ensembl chr 8:18,740,279...18,791,578
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Arrb1
arrestin, beta 1
ISO
mRNA, protein:altered expression:left ventricle (rat)
RGD
PMID:22015551
RGD:5509867
NCBI chr 7:99,184,356...99,255,979
Ensembl chr 7:99,184,673...99,255,978
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Arrb2
arrestin, beta 2
ISO
mRNA, protein:altered expression:left ventricle (rat)
RGD
PMID:22015551
RGD:5509867
NCBI chr11:70,323,051...70,331,654
Ensembl chr11:70,323,461...70,331,654
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Col1a1
collagen, type I, alpha 1
ISO
in Long Evans rats;mRNA:increased expression:aorta
RGD
PMID:16428894
RGD:8552771
NCBI chr11:94,827,050...94,843,868
Ensembl chr11:94,827,050...94,843,868
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Des
desmin
ISO
RGD
PMID:10591032
RGD:13525010
NCBI chr 1:75,336,936...75,345,223
Ensembl chr 1:75,336,973...75,345,223
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Fgf2
fibroblast growth factor 2
ISO
RGD
PMID:10541235
RGD:8655590
NCBI chr 3:37,402,616...37,464,255
Ensembl chr 3:37,402,495...37,464,257
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Mmp2
matrix metallopeptidase 2
treatment
ISO IDA
protein:increased expression:ileal vein
RGD
PMID:17398390 PMID:23924957
RGD:1642040 , RGD:13204800
NCBI chr 8:93,553,920...93,580,049
Ensembl chr 8:93,553,919...93,580,048
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Mmp9
matrix metallopeptidase 9
treatment
ISO IDA
RGD
PMID:17398390 PMID:23924957
RGD:1642040 , RGD:13204800
NCBI chr 2:164,782,246...164,797,770
Ensembl chr 2:164,782,700...164,797,770
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Nos3
nitric oxide synthase 3, endothelial cell
ISO
protein:increased expression:vena cava
RGD
PMID:17344190
RGD:2292146
NCBI chr 5:24,569,772...24,589,472
Ensembl chr 5:24,569,808...24,589,472
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Rbp4
retinol binding protein 4, plasma
exacerbates
ISO
protein:increased expression:blood serum (human)
RGD
PMID:33556944
RGD:329845868
NCBI chr19:38,105,068...38,113,769
Ensembl chr19:38,105,077...38,113,729
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Timp4
tissue inhibitor of metalloproteinase 4
ISO
protein:decreased expression:ileal vein
RGD
PMID:17398390
RGD:1642040
NCBI chr 6:115,221,405...115,229,166
Ensembl chr 6:115,218,853...115,229,166
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Vegfa
vascular endothelial growth factor A
ISO
protein:increased expression:brain cortex, brain dura mater:
RGD
PMID:24626343 PMID:10541235
RGD:8551823 , RGD:8655590
NCBI chr17:46,327,919...46,343,303
Ensembl chr17:46,327,919...46,343,295
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Acvrl1
activin A receptor, type II-like 1
IAGP
OMIM:108010
MouseDO
NCBI chr15:101,026,403...101,043,217
Ensembl chr15:101,026,403...101,043,217
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Adgrv1
adhesion G protein-coupled receptor V1
ISO
ClinVar Annotator: match by term: Cerebral arteriovenous malformation
ClinVar
PMID:25741868
NCBI chr13:81,243,187...81,781,504
Ensembl chr13:81,243,187...81,781,273
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Braf
Braf transforming gene
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 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:19571295 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:21639808 PMID:21683865 PMID:21975775 PMID:22038996 PMID:22039425 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:24163374 PMID:24388723 PMID:24508103 PMID:24512911 PMID:24576830 PMID:24583796 PMID:24586605 PMID:24594804 PMID:24670642 PMID:24717435 PMID:25024077 PMID:25079330 PMID:25157968 PMID:25370471 PMID:25741868 PMID:25950823 PMID:25989278 PMID:26619011 PMID:26678033 PMID:28854169 PMID:29925953 PMID:31891627 PMID:34476331 More...
NCBI chr 6:39,580,171...39,702,592
Ensembl chr 6:39,580,171...39,702,397
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Cacna1h
calcium channel, voltage-dependent, T type, alpha 1H subunit
ISO
ClinVar Annotator: match by term: Cerebral arteriovenous malformation
ClinVar
PMID:25741868 PMID:28492532
NCBI chr17:25,593,259...25,655,308
Ensembl chr17:25,593,259...25,652,759
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Cdh2
cadherin 2
ISO
ClinVar Annotator: match by term: Cerebral arteriovenous malformation
ClinVar
PMID:25741868
NCBI chr18:16,721,934...16,942,303
Ensembl chr18:16,721,934...16,942,303
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Egfr
epidermal growth factor receptor
ISO
ClinVar Annotator: match by term: Cerebral arteriovenous malformation
ClinVar
PMID:25741868
NCBI chr11:16,700,153...16,868,158
Ensembl chr11:16,702,203...16,868,158
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Eng
endoglin
disease_progression
ISO IAGP IMP
DNA:polymorphism: : 207G>A(human) ClinVar Annotator: match by term: Cerebral arteriovenous malformation OMIM:108010
ClinVar MouseDO RGD
PMID:15879500 PMID:25741868 PMID:28492532 PMID:30120215 PMID:24876084 PMID:24520391 More...
RGD:11041171 , RGD:11041564
NCBI chr 2:32,536,607...32,572,681
Ensembl chr 2:32,536,607...32,572,681
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Flt1
FMS-like tyrosine kinase 1
ISO
protein:increased expression:endothelial cell:
RGD
PMID:11220380
RGD:8551824
NCBI chr 5:147,498,414...147,663,419
Ensembl chr 5:147,498,414...147,662,821
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Gli2
GLI-Kruppel family member GLI2
ISO
ClinVar Annotator: match by term: Arteriovenous malformations of the brain
ClinVar
PMID:25741868
NCBI chr 1:118,761,791...118,987,578
Ensembl chr 1:118,761,862...118,981,349
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Il17rd
interleukin 17 receptor D
ISO
ClinVar Annotator: match by term: Cerebral arteriovenous malformation
ClinVar
PMID:25636053 PMID:25741868 PMID:28492532 PMID:32389901
NCBI chr14:26,760,990...26,829,243
Ensembl chr14:26,760,898...26,829,243
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Il6
interleukin 6
susceptibility
ISO
CTD Direct Evidence: marker/mechanism
CTD OMIM
NCBI chr 5:30,218,112...30,224,973
Ensembl chr 5:30,218,112...30,224,979
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Kdr
kinase insert domain protein receptor
ISO
protein:increased expression:endothelial cell:
RGD
PMID:11220380
RGD:8551824
NCBI chr 5:76,093,487...76,139,880
Ensembl chr 5:76,093,487...76,139,118
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Kras
Kirsten rat sarcoma viral oncogene homolog
ISO IAGP
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 CTD Direct Evidence: marker/mechanism OMIM:108010
OMIM ClinVar CTD MouseDO
PMID:2278970 PMID:3122217 PMID:7773929 PMID:8439212 PMID:12110640 PMID:12460918 PMID:12720172 PMID:14982869 PMID:15093544 PMID:15696205 PMID:15842656 PMID:16361624 PMID:16434492 PMID:16474404 PMID:16474405 PMID:16618717 PMID:16773572 PMID:17056636 PMID:17324647 PMID:17332249 PMID:17384584 PMID:17409930 PMID:17551339 PMID:17704260 PMID:17875937 PMID:17910045 PMID:18316791 PMID:18456719 PMID:18628094 PMID:18794081 PMID:19018267 PMID:19029981 PMID:19047918 PMID:19075190 PMID:19114683 PMID:19255327 PMID:19349489 PMID:19358724 PMID:19679400 PMID:19773371 PMID:19881948 PMID:20609353 PMID:20652921 PMID:20805368 PMID:20921462 PMID:20921465 PMID:20949522 PMID:20949621 PMID:21044336 PMID:21062266 PMID:21079152 PMID:21169357 PMID:21228335 PMID:21398618 PMID:21871821 PMID:21975775 PMID:22025163 PMID:22235099 PMID:22407852 PMID:22499344 PMID:22683711 PMID:22722830 PMID:22897852 PMID:23014527 PMID:23096712 PMID:23255105 PMID:23325582 PMID:23406027 PMID:24033266 PMID:24138715 PMID:24703799 PMID:24803665 PMID:25044103 PMID:25157968 PMID:25326637 PMID:25695684 PMID:25741868 PMID:26242988 PMID:26372703 PMID:26619011 PMID:28492532 PMID:29298116 PMID:29948256 PMID:30443000 PMID:31891627 PMID:35794233 More...
NCBI chr 6:145,162,425...145,197,631
Ensembl chr 6:145,162,425...145,195,965
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Lemd3
LEM domain containing 3
ISO
ClinVar Annotator: match by term: Cerebral arteriovenous malformation
ClinVar
PMID:25741868
NCBI chr10:120,759,316...120,815,491
Ensembl chr10:120,759,318...120,815,237
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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 1:39,939,806...40,065,470
Ensembl chr 1:39,940,073...40,065,470
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Nlrp3
NLR family, pyrin domain containing 3
ISO
ClinVar Annotator: match by term: Cerebral arteriovenous malformation
ClinVar
NCBI chr11:59,432,395...59,457,781
Ensembl chr11:59,432,394...59,457,782
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Notch4
notch 4
IMP IAGP ISO
OMIM:108010 ClinVar Annotator: match by term: Cerebral arteriovenous malformation
MouseDO ClinVar RGD
PMID:25741868 PMID:27231971 PMID:19546852
RGD:6480671
NCBI chr17:34,783,257...34,807,517
Ensembl chr17:34,783,242...34,807,477
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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 PMID:25741868 PMID:28492532 More...
NCBI chr 3:75,423,797...75,464,159
Ensembl chr 3:75,423,797...75,464,163
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Pitpnm3
PITPNM family member 3
ISO
ClinVar Annotator: match by term: Cerebral arteriovenous malformation
ClinVar
PMID:25741868
NCBI chr11:71,938,354...72,026,715
Ensembl chr11:71,938,354...72,026,604
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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 1:11,063,496...11,373,907
Ensembl chr 1:11,063,689...11,373,905
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Sars1
seryl-tRNA synthetase 1
ISO
ClinVar Annotator: match by term: Cerebral arteriovenous malformation
ClinVar
PMID:25741868
NCBI chr 3:108,332,180...108,352,575
Ensembl chr 3:108,332,181...108,352,525
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Scube2
signal peptide, CUB domain, EGF-like 2
ISO
ClinVar Annotator: match by term: Cerebral arteriovenous malformation
ClinVar
PMID:25741868
NCBI chr 7:109,397,897...109,464,886
Ensembl chr 7:109,397,883...109,464,886
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Syn3
synapsin III
ISO
ClinVar Annotator: match by term: Cerebral arteriovenous malformation
ClinVar
PMID:25741868
NCBI chr10:85,884,610...86,336,730
Ensembl chr10:85,890,989...86,334,760
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Timp3
tissue inhibitor of metalloproteinase 3
ISO
ClinVar Annotator: match by term: Cerebral arteriovenous malformation
ClinVar
PMID:25741868
NCBI chr10:86,136,276...86,185,369
Ensembl chr10:86,136,236...86,185,370
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Vegfa
vascular endothelial growth factor A
ISO
RGD
PMID:16388189
RGD:1580567
NCBI chr17:46,327,919...46,343,303
Ensembl chr17:46,327,919...46,343,295
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Zfyve16
zinc finger, FYVE domain containing 16
ISO
ClinVar Annotator: match by term: Cerebral arteriovenous malformation
ClinVar
PMID:25741868
NCBI chr13:92,624,257...92,667,318
Ensembl chr13:92,623,616...92,667,376
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Ccnh
cyclin H
ISO
ClinVar Annotator: match by term: Capillary malformation-arteriovenous malformation | ClinVar Annotator: match by term: Capillary malformation-arteriovenous malformation syndrome
ClinVar
PMID:9219684 PMID:9536098 PMID:14639529 PMID:15574420 PMID:16199547 PMID:17576681 PMID:18363760 PMID:18446851 PMID:22200646 PMID:23164092 PMID:23650393 PMID:23687085 PMID:24038909 PMID:24139535 PMID:24274751 PMID:25040287 PMID:25741868 PMID:26499346 PMID:26969842 PMID:27081547 PMID:27535533 PMID:28295764 PMID:28492532 PMID:28655553 PMID:29024832 PMID:29120072 PMID:29891884 PMID:30026675 PMID:30120215 PMID:33248299 PMID:35209959 PMID:36980822 More...
NCBI chr13:85,337,504...85,361,850
Ensembl chr13:85,337,527...85,371,588
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Ephb4
Eph receptor B4
ISO
ClinVar Annotator: match by term: Capillary malformation-arteriovenous malformation syndrome
ClinVar
PMID:25741868
NCBI chr 5:137,348,371...137,372,784
Ensembl chr 5:137,348,371...137,376,931
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Rasa1
RAS p21 protein activator 1
susceptibility
ISO
DNA:mutations:multiple (human) ClinVar Annotator: match by term: Capillary malformation-arteriovenous malformation | ClinVar Annotator: match by term: Capillary malformation-arteriovenous malformation syndrome CTD Direct Evidence: marker/mechanism
ClinVar CTD RGD
PMID:9219684 PMID:9536098 PMID:14639529 PMID:15574420 PMID:16199547 PMID:17576681 PMID:18363760 PMID:18446851 PMID:21626678 PMID:22200646 PMID:23164092 PMID:23650393 PMID:23687085 PMID:23801933 PMID:24038909 PMID:24139535 PMID:24274751 PMID:25040287 PMID:25640679 PMID:25741868 PMID:26499346 PMID:26774077 PMID:26969842 PMID:27081547 PMID:27535533 PMID:28295764 PMID:28492532 PMID:28655553 PMID:29024832 PMID:29110021 PMID:29120072 PMID:29171923 PMID:29891884 PMID:30026675 PMID:30120215 PMID:33248299 PMID:35209959 PMID:36980822 PMID:14639529 More...
RGD:734495
NCBI chr13:85,362,893...85,437,487
Ensembl chr13:85,362,899...85,437,249
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Stambp
STAM binding protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23542699
NCBI chr 6:83,520,188...83,552,781
Ensembl chr 6:83,520,193...83,549,711
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Ccnh
cyclin H
ISO
ClinVar Annotator: match by term: CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 1 | ClinVar Annotator: match by term: Capillary malformation-arteriovenous malformation 1
ClinVar
PMID:9219684 PMID:14639529 PMID:15574420 PMID:16199547 PMID:18363760 PMID:18446851 PMID:23164092 PMID:24038909 PMID:25040287 PMID:25741868 PMID:26499346 PMID:27081547 PMID:27535533 PMID:28492532 PMID:28655553 PMID:29891884 PMID:33248299 PMID:33461977 PMID:36980822 PMID:37767822 More...
NCBI chr13:85,337,504...85,361,850
Ensembl chr13:85,337,527...85,371,588
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Kras
Kirsten rat sarcoma viral oncogene homolog
ISO
ClinVar Annotator: match by term: Capillary malformation-arteriovenous malformation 1
ClinVar
PMID:2278970 PMID:3122217 PMID:7773929 PMID:8439212 PMID:12460918 PMID:12720172 PMID:15093544 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:20805368 PMID:20921462 PMID:20921465 PMID:20949522 PMID:21079152 PMID:21228335 PMID:21975775 PMID:22025163 PMID:22407852 PMID:22499344 PMID:22683711 PMID:23014527 PMID:23096712 PMID:23255105 PMID:23406027 PMID:25044103 PMID:25157968 PMID:25695684 PMID:25741868 PMID:28492532 PMID:29298116 PMID:30443000 PMID:31891627 PMID:35794233 More...
NCBI chr 6:145,162,425...145,197,631
Ensembl chr 6:145,162,425...145,195,965
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Pik3ca
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha
ISO
ClinVar Annotator: match by term: Capillary malformation-arteriovenous malformation 1
ClinVar
NCBI chr 3:32,451,203...32,520,256
Ensembl chr 3:32,451,820...32,522,635
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Rasa1
RAS p21 protein activator 1
ISO
ClinVar Annotator: match by term: CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 1 | ClinVar Annotator: match by term: Capillary malformation-arteriovenous malformation 1
OMIM ClinVar
PMID:9219684 PMID:14639529 PMID:15574420 PMID:16199547 PMID:18363760 PMID:18446851 PMID:22200646 PMID:23164092 PMID:23801933 PMID:24038909 PMID:25040287 PMID:25741868 PMID:26499346 PMID:27081547 PMID:27535533 PMID:28492532 PMID:28655553 PMID:29171923 PMID:29891884 PMID:33248299 PMID:33461977 PMID:36980822 PMID:37767822 More...
NCBI chr13:85,362,893...85,437,487
Ensembl chr13:85,362,899...85,437,249
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Ephb4
Eph receptor B4
ISO
ClinVar Annotator: match by term: Capillary malformation-arteriovenous malformation 2 | ClinVar Annotator: match by term: EPHB4-related condition | ClinVar Annotator: match by term: EPHB4-related disorders
OMIM ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:21348050 PMID:25741868 PMID:27400125 PMID:28492532 PMID:28687708 PMID:28730721 PMID:29444212 PMID:29905864 PMID:30578106 PMID:30760892 PMID:30819650 PMID:32267001 PMID:33240318 PMID:36813543 More...
NCBI chr 5:137,348,371...137,372,784
Ensembl chr 5:137,348,371...137,376,931
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Slc12a9
solute carrier family 12 (potassium/chloride transporters), member 9
ISO
ClinVar Annotator: match by term: Capillary malformation-arteriovenous malformation 2
ClinVar
PMID:25741868 PMID:28492532 PMID:28687708
NCBI chr 5:137,312,820...137,338,331
Ensembl chr 5:137,312,820...137,331,859
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Gna14
guanine nucleotide binding protein, alpha 14
ISO
ClinVar Annotator: match by term: Cerebrofacial arteriovenous metameric syndrome
ClinVar
NCBI chr19:16,413,031...16,590,706
Ensembl chr19:16,413,126...16,588,184
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Pik3ca
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha
ISO
ClinVar Annotator: match by term: CLAPO syndrome | ClinVar Annotator: match by term: Capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowth
OMIM ClinVar
PMID:15016963 PMID:15254419 PMID:15520168 PMID:15608678 PMID:15647370 PMID:15805248 PMID:15930273 PMID:16906227 PMID:16930767 PMID:17376864 PMID:17673550 PMID:18074223 PMID:18676830 PMID:18725974 PMID:19029981 PMID:19223544 PMID:19366826 PMID:19513541 PMID:19903786 PMID:20453058 PMID:20593314 PMID:20619739 PMID:21430269 PMID:21558396 PMID:21824802 PMID:22120714 PMID:22162582 PMID:22162589 PMID:22271473 PMID:22357840 PMID:22370636 PMID:22658544 PMID:22729222 PMID:22729224 PMID:22949682 PMID:23066039 PMID:23100325 PMID:23946963 PMID:24033266 PMID:24559322 PMID:24782230 PMID:25157968 PMID:25599672 PMID:25681199 PMID:25741868 PMID:26266975 PMID:26266985 PMID:26619011 PMID:26627007 PMID:26822237 PMID:26851524 PMID:27126994 PMID:27626068 PMID:27631024 PMID:28492532 PMID:29446767 PMID:29988677 PMID:31536475 PMID:31775759 PMID:34008892 PMID:34496175 PMID:34568242 PMID:34606700 PMID:37667289 PMID:37712948 More...
NCBI chr 3:32,451,203...32,520,256
Ensembl chr 3:32,451,820...32,522,635
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Stambp
STAM binding protein
ISO
ClinVar Annotator: match by term: Microcephaly-capillary malformation syndrome | ClinVar Annotator: match by term: STAMBP-related condition
OMIM ClinVar
PMID:18414213 PMID:21271646 PMID:21815250 PMID:23542699 PMID:25326635 PMID:25741868 PMID:28492532 PMID:29907875 PMID:32929933 More...
NCBI chr 6:83,520,188...83,552,781
Ensembl chr 6:83,520,193...83,549,711
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Gja4
gap junction protein, alpha 4
ISO
ClinVar Annotator: match by term: Cutaneous venous malformation
ClinVar
PMID:33912852
NCBI chr 4:127,205,213...127,207,832
Ensembl chr 4:127,205,214...127,207,832
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Tek
TEK receptor tyrosine kinase
ISO
ClinVar Annotator: match by term: Multiple cutaneous and mucosal venous malformations | ClinVar Annotator: match by term: Segmental undergrowth associated with venous malformation without capillary component CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:7783168 PMID:7833915 PMID:8415706 PMID:8980225 PMID:9926914 PMID:10369874 PMID:19079259 PMID:19888299 PMID:20301733 PMID:25326635 PMID:25741868 PMID:26319232 PMID:27270174 PMID:28492532 More...
NCBI chr 4:94,627,322...94,763,213
Ensembl chr 4:94,627,526...94,763,213
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Cldn14
claudin 14
ISO
ClinVar Annotator: match by term: Galen vein aneurysm
ClinVar
PMID:23991001 PMID:24033266 PMID:25741868 PMID:28492532 PMID:30578106
NCBI chr16:93,715,919...93,809,733
Ensembl chr16:93,715,919...93,809,696
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Ephb4
Eph receptor B4
ISO
ClinVar Annotator: match by term: Galen vein aneurysm
ClinVar
PMID:30578106
NCBI chr 5:137,348,371...137,372,784
Ensembl chr 5:137,348,371...137,376,931
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Kat6a
K(lysine) acetyltransferase 6A
ISO
ClinVar Annotator: match by term: Galen vein aneurysm
ClinVar
PMID:30578106
NCBI chr 8:23,349,458...23,433,275
Ensembl chr 8:23,349,551...23,433,275
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Kel
Kell blood group
ISO
ClinVar Annotator: match by term: Galen vein aneurysm
ClinVar
PMID:30578106
NCBI chr 6:41,663,263...41,681,268
Ensembl chr 6:41,663,264...41,681,273
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Kmt2d
lysine (K)-specific methyltransferase 2D
ISO
ClinVar Annotator: match by term: Galen vein aneurysm
ClinVar
PMID:28492532 PMID:30578106
NCBI chr15:98,729,550...98,771,958
Ensembl chr15:98,729,550...98,769,085
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Smarca2
SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2
ISO
ClinVar Annotator: match by term: Galen vein aneurysm
ClinVar
PMID:30578106
NCBI chr19:26,582,578...26,755,721
Ensembl chr19:26,582,450...26,755,722
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