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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 malformation
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Accession:DOID:11294 term browser 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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show annotations for term's descendants           Sort by:
arteriovenous malformation 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 RGD PMID:11062473 RGD:1300250 NCBI chrNW_004624816:402,412...426,217
Ensembl chrNW_004624816:404,358...426,217 		JBrowse link
G Eng endoglin susceptibility ISO associated with Telangiectasia, Hereditary Hemorrhagic; RGD PMID:8728706 PMID:24520391 RGD:11041184 RGD:11041564 NCBI chrNW_004624760:7,703,979...7,735,636
Ensembl chrNW_004624760:7,703,820...7,734,457 		JBrowse link
G Ephb4 EPH receptor B4 ISO ClinVar Annotator: match by term: Arteriovenous malformation ClinVar PMID:25741868 PMID:28687708 PMID:30578106 PMID:30760892 NCBI chrNW_004624740:16,320,672...16,339,454
Ensembl chrNW_004624740:16,320,697...16,339,777 		JBrowse link
G Glmn glomulin, FKBP associated protein ISO glomuvenous malformations RGD PMID:11845407 RGD:1598992 NCBI chrNW_004624742:5,434,588...5,477,647 JBrowse link
G Map2 microtubule associated protein 2 ISO protein:decreased expression:hippocampus RGD PMID:20873448 RGD:6483324 NCBI chrNW_004624765:6,476,544...6,758,959
Ensembl chrNW_004624765:6,476,346...6,546,116 		JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO RGD PMID:16720380 RGD:1582655 NCBI chrNW_004624790:8,584,399...8,591,763
Ensembl chrNW_004624790:8,583,457...8,591,713 		JBrowse link
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha ISO ClinVar Annotator: match by term: Arteriovenous malformation ClinVar NCBI chrNW_004624730:56,895,065...56,970,563
Ensembl chrNW_004624730:56,938,215...56,966,137 		JBrowse link
G Rasa1 RAS p21 protein activator 1 ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:14639529 PMID:15917201 RGD:1581296 NCBI chrNW_004624743:6,750,476...6,882,556
Ensembl chrNW_004624743:6,788,108...6,882,223 		JBrowse link
G Tek TEK receptor tyrosine kinase susceptibility ISO DNA:missense mutation: :p.R849W RGD PMID:8980225 RGD:1578533 NCBI chrNW_004624736:31,345,774...31,473,727 JBrowse link
Angiokeratoma Corporis Diffusum with Arteriovenous Fistulas 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 ISO ClinVar Annotator: match by term: Angiokeratoma corporis diffusum with arteriovenous fistulas ClinVar PMID:25741868 NCBI chrNW_004624809:787,932...978,315
Ensembl chrNW_004624809:790,496...927,430 		JBrowse link
G 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 chrNW_004624809:978,391...1,036,313
Ensembl chrNW_004624809:978,789...1,039,091 		JBrowse link
Arteriovenous Fistula term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ace angiotensin I converting enzyme treatment ISO protein:increased activity:heart left ventricle (rat) RGD PMID:8386093 PMID:22768235 RGD:12859285 RGD:12880017 NCBI chrNW_004624849:998,262...1,019,305
Ensembl chrNW_004624849:998,277...1,019,521 		JBrowse link
G Ackr1 atypical chemokine receptor 1 (Duffy blood group) ISO RGD PMID:24429330 RGD:9681736 NCBI chrNW_004624794:2,055,917...2,124,815
Ensembl chrNW_004624794:2,120,786...2,122,232 		JBrowse link
G Angpt2 angiopoietin 2 ISO mRNA:increased expression:lung (rat) RGD PMID:18692629 RGD:2314184 NCBI chrNW_004624861:4,457,519...4,510,035
Ensembl chrNW_004624861:4,457,158...4,509,623 		JBrowse link
G Arrb1 arrestin beta 1 ISO mRNA, protein:altered expression:left ventricle (rat) RGD PMID:22015551 RGD:5509867 NCBI chrNW_004624817:1,750,448...1,828,399
Ensembl chrNW_004624817:1,750,156...1,823,309 		JBrowse link
G Arrb2 arrestin beta 2 ISO mRNA, protein:altered expression:left ventricle (rat) RGD PMID:22015551 RGD:5509867 NCBI chrNW_004624786:8,568,102...8,576,445
Ensembl chrNW_004624786:8,568,198...8,577,914 		JBrowse link
G Col1a1 collagen type I alpha 1 chain ISO in Long Evans rats;mRNA:increased expression:aorta RGD PMID:16428894 RGD:8552771 NCBI chrNW_004624795:6,167,504...6,183,208
Ensembl chrNW_004624795:6,168,797...6,183,071 		JBrowse link
G Des desmin ISO RGD PMID:10591032 RGD:13525010 NCBI chrNW_004624823:5,624,958...5,632,234
Ensembl chrNW_004624823:5,622,283...5,632,283 		JBrowse link
G Fgf2 fibroblast growth factor 2 ISO RGD PMID:10541235 RGD:8655590 NCBI chrNW_004624777:3,268,674...3,321,424
Ensembl chrNW_004624777:3,268,953...3,321,145 		JBrowse link
G Mmp2 matrix metallopeptidase 2 treatment ISO protein:increased expression:ileal vein RGD PMID:17398390 PMID:23924957 RGD:13204800 RGD:1642040 NCBI chrNW_004624757:1,450,680...1,479,160
Ensembl chrNW_004624757:1,448,698...1,479,255 		JBrowse link
G Mmp9 matrix metallopeptidase 9 treatment ISO RGD PMID:17398390 PMID:23924957 RGD:13204800 RGD:1642040 NCBI chrNW_004624790:8,584,399...8,591,763
Ensembl chrNW_004624790:8,583,457...8,591,713 		JBrowse link
G Nos3 nitric oxide synthase 3 ISO protein:increased expression:vena cava RGD PMID:17344190 RGD:2292146 NCBI chrNW_004624800:5,600,215...5,619,020
Ensembl chrNW_004624800:5,600,212...5,619,004 		JBrowse link
G Rbp4 retinol binding protein 4 exacerbates ISO protein:increased expression:blood serum (human) RGD PMID:33556944 RGD:329845868 NCBI chrNW_004624737:4,795,054...4,800,830
Ensembl chrNW_004624737:4,791,628...4,800,989 		JBrowse link
G Timp4 TIMP metallopeptidase inhibitor 4 ISO protein:decreased expression:ileal vein RGD PMID:17398390 RGD:1642040 NCBI chrNW_004624956:331,275...341,561
Ensembl chrNW_004624956:330,327...337,299 		JBrowse link
G Vegfa vascular endothelial growth factor A ISO protein:increased expression:brain cortex, brain dura mater: RGD PMID:10541235 PMID:24626343 RGD:8551823 RGD:8655590 NCBI chrNW_004624754:15,929,414...15,943,637 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 ISO OMIM:108010 MouseDO NCBI chrNW_004624816:402,412...426,217
Ensembl chrNW_004624816:404,358...426,217 		JBrowse link
G Adgrv1 adhesion G protein-coupled receptor V1 ISO ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 NCBI chrNW_004624743:9,849,070...10,292,392 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_004624765:20,766,368...20,951,560
Ensembl chrNW_004624765:20,773,885...20,951,736 		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_004624913:1,926,405...1,952,426
Ensembl chrNW_004624913:1,891,156...1,949,633 		JBrowse link
G Cdh2 cadherin 2 ISO ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 NCBI chrNW_004624770:4,333,643...4,540,817
Ensembl chrNW_004624770:4,334,202...4,545,470 		JBrowse link
G Egfr epidermal growth factor receptor ISO ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 NCBI chrNW_004624740:584,133...713,205
Ensembl chrNW_004624740:589,606...713,271 		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_004624760:7,703,979...7,735,636
Ensembl chrNW_004624760:7,703,820...7,734,457 		JBrowse link
G Flt1 fms related receptor tyrosine kinase 1 ISO protein:increased expression:endothelial cell: RGD PMID:11220380 RGD:8551824 NCBI chrNW_004624776:10,043,113...10,218,598
Ensembl chrNW_004624776:10,043,258...10,219,104 		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_004624732:24,159,407...24,381,495
Ensembl chrNW_004624732:24,159,312...24,328,452 		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_004624822:150,955...219,939
Ensembl chrNW_004624822:150,992...214,107 		JBrowse link
G Il6 interleukin 6 susceptibility ISO CTD Direct Evidence: marker/mechanism CTD
OMIM		 NCBI chrNW_004624739:7,957,709...7,963,414
Ensembl chrNW_004624739:7,957,674...7,962,318 		JBrowse link
G Kdr kinase insert domain receptor ISO protein:increased expression:endothelial cell: RGD PMID:11220380 RGD:8551824 NCBI chrNW_004624761:14,330,224...14,380,680
Ensembl chrNW_004624761:14,330,489...14,379,051 		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_004624752:13,809,741...13,847,020
Ensembl chrNW_004624752:13,809,775...13,844,166 		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_004624749:6,332,686...6,495,942
Ensembl chrNW_004624749:6,332,534...6,495,942 		JBrowse link
G Nlrp3 NLR family pyrin domain containing 3 ISO ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar NCBI chrNW_004624937:564,191...584,470 JBrowse link
G Notch4 notch receptor 4 ISO ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 PMID:27231971 NCBI chrNW_004624754:24,108,661...24,128,053 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_004624730:45,653,470...45,698,461
Ensembl chrNW_004624730:45,654,022...45,678,745 		JBrowse link
G Pitpnm3 PITPNM family member 3 ISO ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 NCBI chrNW_004624786:7,484,829...7,568,020
Ensembl chrNW_004624786:7,485,092...7,567,993 		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_004624744:22,941,194...23,208,987
Ensembl chrNW_004624744:22,946,979...23,172,122 		JBrowse link
G Sars1 seryl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 NCBI chrNW_004624772:4,963,173...4,978,294 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_004624766:1,158,607...1,241,797
Ensembl chrNW_004624766:1,151,793...1,241,774 		JBrowse link
G Syn3 synapsin III ISO ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 NCBI chrNW_004624750:1,663,309...1,976,738
Ensembl chrNW_004624750:1,699,107...1,972,252 		JBrowse link
G Timp3 TIMP metallopeptidase inhibitor 3 ISO ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 NCBI chrNW_004624750:1,776,197...1,817,279
Ensembl chrNW_004624750:1,775,744...1,817,385 		JBrowse link
G Vegfa vascular endothelial growth factor A ISO RGD PMID:16388189 RGD:1580567 NCBI chrNW_004624754:15,929,414...15,943,637 JBrowse link
G Zfyve16 zinc finger FYVE-type containing 16 ISO ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 NCBI chrNW_004624743:1,339,650...1,383,883 JBrowse link
Capillary Malformation-Arteriovenous Malformation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 More... NCBI chrNW_004624743:6,883,124...6,902,518
Ensembl chrNW_004624743:6,883,114...6,902,745 		JBrowse link
G Ephb4 EPH receptor B4 ISO ClinVar Annotator: match by term: Capillary malformation-arteriovenous malformation syndrome ClinVar PMID:25741868 NCBI chrNW_004624740:16,320,672...16,339,454
Ensembl chrNW_004624740:16,320,697...16,339,777 		JBrowse link
G 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		 RGD
ClinVar		 PMID:9219684 PMID:9536098 PMID:14639529 PMID:15574420 PMID:16199547 More... RGD:734495 NCBI chrNW_004624743:6,750,476...6,882,556
Ensembl chrNW_004624743:6,788,108...6,882,223 		JBrowse link
G Stambp STAM binding protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:23542699 NCBI chrNW_004624749:29,630,847...29,667,611
Ensembl chrNW_004624749:29,630,847...29,667,571 		JBrowse link
Capillary Malformation-Arteriovenous Malformation 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 More... NCBI chrNW_004624743:6,883,124...6,902,518
Ensembl chrNW_004624743:6,883,114...6,902,745 		JBrowse link
G Kras KRAS proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Capillary malformation-arteriovenous malformation 1 ClinVar PMID:2278970 PMID:3122217 PMID:7773929 PMID:8439212 PMID:12460918 More... NCBI chrNW_004624752:13,809,741...13,847,020
Ensembl chrNW_004624752:13,809,775...13,844,166 		JBrowse link
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha ISO ClinVar Annotator: match by term: Capillary malformation-arteriovenous malformation 1 ClinVar NCBI chrNW_004624730:56,895,065...56,970,563
Ensembl chrNW_004624730:56,938,215...56,966,137 		JBrowse link
G 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 More... NCBI chrNW_004624743:6,750,476...6,882,556
Ensembl chrNW_004624743:6,788,108...6,882,223 		JBrowse link
Capillary Malformation-Arteriovenous Malformation 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 More... NCBI chrNW_004624740:16,320,672...16,339,454
Ensembl chrNW_004624740:16,320,697...16,339,777 		JBrowse link
G Slc12a9 solute carrier family 12 member 9 ISO ClinVar Annotator: match by term: Capillary malformation-arteriovenous malformation 2 ClinVar PMID:25741868 PMID:28492532 PMID:28687708 NCBI chrNW_004624740:16,297,332...16,307,888
Ensembl chrNW_004624740:16,297,217...16,307,988 		JBrowse link
CEREBROFACIAL ARTERIOVENOUS METAMERIC SYNDROME term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gna14 G protein subunit alpha 14 ISO ClinVar Annotator: match by term: Cerebrofacial arteriovenous metameric syndrome ClinVar NCBI chrNW_004624811:4,904,428...5,108,713
Ensembl chrNW_004624811:4,909,324...5,108,322 		JBrowse link
CLAPO Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 More... NCBI chrNW_004624730:56,895,065...56,970,563
Ensembl chrNW_004624730:56,938,215...56,966,137 		JBrowse link
Microcephaly-Capillary Malformation Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 More... NCBI chrNW_004624749:29,630,847...29,667,611
Ensembl chrNW_004624749:29,630,847...29,667,571 		JBrowse link
multiple cutaneous and mucosal venous malformations term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gja4 gap junction protein alpha 4 ISO ClinVar Annotator: match by term: Cutaneous venous malformation ClinVar PMID:33912852 NCBI chrNW_004624764:17,842,566...17,845,011
Ensembl chrNW_004624764:17,836,180...17,845,011 		JBrowse link
G 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 OMIM
ClinVar		 PMID:7783168 PMID:7833915 PMID:8415706 PMID:8980225 PMID:9926914 More... NCBI chrNW_004624736:31,345,774...31,473,727 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_004624745:27,058,441...27,074,288
Ensembl chrNW_004624745:27,058,911...27,074,282 		JBrowse link
G Ephb4 EPH receptor B4 ISO ClinVar Annotator: match by term: Galen vein aneurysm ClinVar PMID:30578106 NCBI chrNW_004624740:16,320,672...16,339,454
Ensembl chrNW_004624740:16,320,697...16,339,777 		JBrowse link
G Kat6a lysine acetyltransferase 6A ISO ClinVar Annotator: match by term: Galen vein aneurysm ClinVar PMID:30578106 NCBI chrNW_004624780:1,237,326...1,378,718
Ensembl chrNW_004624780:1,240,292...1,376,072 		JBrowse link
G Kel Kell metallo-endopeptidase (Kell blood group) ISO ClinVar Annotator: match by term: Galen vein aneurysm ClinVar PMID:30578106 NCBI chrNW_004624800:11,871,226...11,892,584
Ensembl chrNW_004624800:11,870,759...11,894,190 		JBrowse link
G Kmt2d lysine methyltransferase 2D ISO ClinVar Annotator: match by term: Galen vein aneurysm ClinVar PMID:28492532 PMID:30578106 NCBI chrNW_004624816:3,129,127...3,169,143
Ensembl chrNW_004624816:3,133,659...3,166,346 		JBrowse link
G Smarca2 SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2 ISO ClinVar Annotator: match by term: Galen vein aneurysm ClinVar PMID:30578106 NCBI chrNW_004624736:6,681,491...6,863,403
Ensembl chrNW_004624736:6,695,658...6,865,809 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14208
    disease of cellular proliferation 6872
      benign neoplasm 1973
        cell type benign neoplasm 1730
          hemangioma 111
            arteriovenous malformation 56
              Arteriovenous Fistula + 16
              CLAPO Syndrome 1
              Capillary Malformation-Arteriovenous Malformation + 7
              Microcephaly-Capillary Malformation Syndrome 1
              Spinal Arterial Venous Malformations with Cutaneous Hemangiomas 0
              arteriovenous malformations of the brain + 32
              multiple cutaneous and mucosal venous malformations 2
Path 2
Term Annotations click to browse term
  disease 14208
    disease of cellular proliferation 6872
      Neoplasms by Site 6384
        organ system benign neoplasm 1168
          cardiovascular organ benign neoplasm 126
            hemangioma 111
              arteriovenous malformation 56
                Arteriovenous Fistula + 16
                CLAPO Syndrome 1
                Capillary Malformation-Arteriovenous Malformation + 7
                Microcephaly-Capillary Malformation Syndrome 1
                Spinal Arterial Venous Malformations with Cutaneous Hemangiomas 0
                arteriovenous malformations of the brain + 32
                multiple cutaneous and mucosal venous malformations 2
paths to the root