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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:Vascular Malformations
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Accession:DOID:9003191 term browser browse the term
Definition:A spectrum of congenital, inherited, or acquired abnormalities in BLOOD VESSELS that can adversely affect the normal blood flow in ARTERIES or VEINS. Most are congenital defects such as abnormal communications between blood vessels (fistula), shunting of arterial blood directly into veins bypassing the CAPILLARIES (arteriovenous malformations), formation of large dilated blood blood-filled vessels (cavernous angioma), and swollen capillaries (capillary telangiectases). In rare cases, vascular malformations can result from trauma or diseases.
Synonyms:exact_synonym: Vascular Malformation
 narrow_synonym: GIVM;   gastrointestinal vascular malformation
 primary_id: MESH:D054079;   RDO:0004910
 xref: EFO:0006888

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show annotations for term's descendants           Sort by:
Vascular Malformations term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AGT angiotensinogen ISO protein:increased expression:intestine:
protein:increased expression:serum:		 RGD PMID:21955427 PMID:24219762 RGD:155663361 RGD:155663363 NCBI chr25:67,964,840...67,977,006
Ensembl chr25:67,962,401...67,973,324 		JBrowse link
G BRAF B-Raf proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: Vascular malformation ClinVar PMID:12068308 PMID:12198537 PMID:12447372 PMID:12460918 PMID:12460919 More... NCBI chr21:109,495,525...109,690,261 JBrowse link
G CCNH cyclin H ISO ClinVar Annotator: match by term: Vascular malformation ClinVar PMID:18363760 PMID:18446851 PMID:24038909 PMID:25040287 PMID:25741868 More... NCBI chr 4:81,373,812...81,392,454
Ensembl chr 4:81,373,994...81,392,326 		JBrowse link
G DLL4 delta like canonical Notch ligand 4 ISO protein:increased expression:intestine:
protein:increased expression:serum:		 RGD PMID:21955427 PMID:24219762 RGD:155663361 RGD:155663363 NCBI chr26:42,056,473...42,066,283
Ensembl chr26:42,056,331...42,065,828 		JBrowse link
G HRAS HRas proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Vascular malformation ClinVar PMID:25741868 NCBI chr 1:343,613...345,782
Ensembl chr 1:343,506...346,637 		JBrowse link
G KRAS KRAS proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Vascular malformation ClinVar PMID:7773929 PMID:12460918 PMID:15696205 PMID:16361624 PMID:16618717 More... NCBI chr11:24,963,396...25,010,747
Ensembl chr11:24,973,619...25,005,191 		JBrowse link
G LOC103231165 isocitrate dehydrogenase (NADP(+)) 2 ISO ClinVar Annotator: match by term: Vascular malformation ClinVar NCBI chr29:8,633,429...8,650,744
Ensembl chr29:8,633,715...8,650,657 		JBrowse link
G LRRC56 leucine rich repeat containing 56 ISO ClinVar Annotator: match by term: Vascular malformation ClinVar PMID:25741868 NCBI chr 1:352,131...370,276
Ensembl chr 1:355,982...369,633 		JBrowse link
G MAP2K1 mitogen-activated protein kinase kinase 1 ISO ClinVar Annotator: match by term: Vascular malformation ClinVar PMID:25741868 NCBI chr26:17,059,122...17,168,787
Ensembl chr26:17,060,054...17,168,782 		JBrowse link
G NOTCH1 notch receptor 1 ISO protein:increased expression:intestine:
protein:increased expression:serum:		 RGD PMID:21955427 PMID:24219762 RGD:155663361 RGD:155663363 NCBI chr12:1,656,815...1,707,566
Ensembl chr12:1,656,918...1,709,585 		JBrowse link
G PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha ISO DNA:missense mutation:exon 20:p.H1047R (mouse) RGD PMID:25958091 RGD:13207411 NCBI chr15:10,218,034...10,304,874
Ensembl chr15:10,218,805...10,294,316 		JBrowse link
G PIK3R1 phosphoinositide-3-kinase regulatory subunit 1 ISO ClinVar Annotator: match by term: Vascular malformation ClinVar PMID:25157968 PMID:25741868 PMID:26619011 NCBI chr 4:64,321,296...64,406,188
Ensembl chr 4:64,321,078...64,406,519 		JBrowse link
G RASA1 RAS p21 protein activator 1 ISO ClinVar Annotator: match by term: Vascular malformation ClinVar PMID:18363760 PMID:18446851 PMID:24038909 PMID:25040287 PMID:25741868 More... NCBI chr 4:81,249,851...81,371,486
Ensembl chr 4:81,249,805...81,370,453 		JBrowse link
G YES1 YES proto-oncogene 1, Src family tyrosine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:24478334 NCBI chr18:60,086,011...60,168,973
Ensembl chr18:60,088,525...60,120,114 		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 chr21:56,621,669...56,770,553
Ensembl chr21:56,624,114...56,718,920 		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 chr21:56,770,694...56,816,409
Ensembl chr21:56,774,487...56,816,049 		JBrowse link
arterial tortuosity syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACTA2 actin alpha 2, smooth muscle ISO ClinVar Annotator: match by term: Arterial tortuosity ClinVar PMID:25741868 NCBI chr 9:82,358,937...82,376,289
Ensembl chr 9:82,359,086...82,372,446 		JBrowse link
G EFEMP2 EGF containing fibulin extracellular matrix protein 2 ISO DNA:missense mutation:CDS:p.D203A (human) RGD PMID:22943132 RGD:42722010 NCBI chr 1:8,384,212...8,391,501
Ensembl chr 1:8,385,020...8,390,889 		JBrowse link
G EMILIN1 elastin microfibril interfacer 1 ISO ClinVar Annotator: match by term: Arterial tortuosity ClinVar PMID:28492532 PMID:36351433 NCBI chr14:80,531,973...80,539,820 JBrowse link
G FLNA filamin A ISO ClinVar Annotator: match by term: Arterial tortuosity ClinVar PMID:25741868 NCBI chr  X:128,657,580...128,683,812
Ensembl chr  X:128,657,393...128,680,531 		JBrowse link
G MUS81 MUS81 structure-specific endonuclease subunit ISO OMIM:208050 MouseDO NCBI chr 1:8,410,571...8,411,793 JBrowse link
G SLC2A10 solute carrier family 2 member 10 ISO ClinVar Annotator: match by term: Arterial tortuosity syndrome OMIM
ClinVar		 PMID:9536098 PMID:12801113 PMID:14569121 PMID:16199547 PMID:16550171 More... NCBI chr 2:17,160,692...17,185,875 JBrowse link
Arteriovenous Fistula term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACKR1 atypical chemokine receptor 1 (Duffy blood group) ISO RGD PMID:24429330 RGD:9681736 NCBI chr20:4,742,326...4,746,615 JBrowse link
G ANGPT2 angiopoietin 2 ISO mRNA:increased expression:lung (rat) RGD PMID:18692629 RGD:2314184 NCBI chr 8:6,283,619...6,345,320
Ensembl chr 8:6,280,584...6,344,729 		JBrowse link
G ARRB1 arrestin beta 1 ISO mRNA, protein:altered expression:left ventricle (rat) RGD PMID:22015551 RGD:5509867 NCBI chr 1:66,489,358...66,580,167
Ensembl chr 1:66,490,102...66,580,154 		JBrowse link
G ARRB2 arrestin beta 2 ISO mRNA, protein:altered expression:left ventricle (rat) RGD PMID:22015551 RGD:5509867 NCBI chr16:4,191,040...4,202,382
Ensembl chr16:4,191,172...4,202,385 		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 chr16:43,134,648...43,152,313
Ensembl chr16:43,134,779...43,150,930 		JBrowse link
G DES desmin ISO RGD PMID:10591032 RGD:13525010 NCBI chr10:105,312,348...105,320,869 JBrowse link
G FGF2 fibroblast growth factor 2 ISO RGD PMID:10541235 RGD:8655590 NCBI chr 7:70,089,394...70,157,423 JBrowse link
G MMP2 matrix metallopeptidase 2 treatment ISO protein:increased expression:ileal vein RGD PMID:17398390 PMID:23924957 RGD:13204800 RGD:1642040 NCBI chr 5:41,264,382...41,291,657
Ensembl chr 5:41,264,354...41,291,004 		JBrowse link
G MMP9 matrix metallopeptidase 9 treatment ISO RGD PMID:17398390 PMID:23924957 RGD:13204800 RGD:1642040 NCBI chr 2:17,867,267...17,874,757
Ensembl chr 2:17,867,177...17,874,712 		JBrowse link
G NOS3 nitric oxide synthase 3 ISO protein:increased expression:vena cava RGD PMID:17344190 RGD:2292146 NCBI chr21:119,174,829...119,196,840 JBrowse link
G RBP4 retinol binding protein 4 exacerbates ISO protein:increased expression:blood serum (human) RGD PMID:33556944 RGD:329845868 NCBI chr 9:86,831,042...86,840,668
Ensembl chr 9:86,830,957...86,840,250 		JBrowse link
G TIMP4 TIMP metallopeptidase inhibitor 4 ISO protein:decreased expression:ileal vein RGD PMID:17398390 RGD:1642040 NCBI chr22:48,134,133...48,140,870
Ensembl chr22:48,134,637...48,140,600 		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 chr17:28,377,959...28,394,508 JBrowse link
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 chr11:48,063,099...48,091,705
Ensembl chr11:48,082,135...48,093,630 		JBrowse link
G ENG endoglin susceptibility ISO associated with Telangiectasia, Hereditary Hemorrhagic; RGD PMID:8728706 PMID:24520391 RGD:11041184 RGD:11041564 NCBI chr12:10,274,705...10,315,715
Ensembl chr12:10,275,064...10,315,040 		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 chr28:12,389,884...12,416,746
Ensembl chr28:12,389,942...12,416,920 		JBrowse link
G GLMN glomulin, FKBP associated protein ISO glomuvenous malformations RGD PMID:11845407 RGD:1598992 NCBI chr20:40,950,948...41,007,120
Ensembl chr20:40,951,342...41,008,791 		JBrowse link
G MAP2 microtubule associated protein 2 ISO protein:decreased expression:hippocampus RGD PMID:20873448 RGD:6483324 NCBI chr10:95,319,649...95,431,106
Ensembl chr10:95,349,157...95,431,320 		JBrowse link
G MMP9 matrix metallopeptidase 9 ISO RGD PMID:16720380 RGD:1582655 NCBI chr 2:17,867,267...17,874,757
Ensembl chr 2:17,867,177...17,874,712 		JBrowse link
G PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha ISO ClinVar Annotator: match by term: Arteriovenous malformation ClinVar NCBI chr15:10,218,034...10,304,874
Ensembl chr15:10,218,805...10,294,316 		JBrowse link
G RASA1 RAS p21 protein activator 1 ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:14639529 PMID:15917201 RGD:1581296 NCBI chr 4:81,249,851...81,371,486
Ensembl chr 4:81,249,805...81,370,453 		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 chr11:48,063,099...48,091,705
Ensembl chr11:48,082,135...48,093,630 		JBrowse link
G ADGRV1 adhesion G protein-coupled receptor V1 ISO ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 NCBI chr 4:84,498,630...85,082,813
Ensembl chr 4:84,498,573...85,083,504 		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 chr21:109,495,525...109,690,261 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 chr 5:1,039,709...1,106,212
Ensembl chr 5:1,078,973...1,106,507 		JBrowse link
G CDH2 cadherin 2 ISO ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 NCBI chr18:52,426,381...52,652,986
Ensembl chr18:52,426,077...52,654,828 		JBrowse link
G EGFR epidermal growth factor receptor ISO ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 NCBI chr21:3,664,622...3,853,492
Ensembl chr21:3,666,339...3,853,239 		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 chr12:10,274,705...10,315,715
Ensembl chr12:10,275,064...10,315,040 		JBrowse link
G FLT1 fms related receptor tyrosine kinase 1 ISO protein:increased expression:endothelial cell: RGD PMID:11220380 RGD:8551824 NCBI chr 3:7,412,506...7,608,122
Ensembl chr 3:7,412,172...7,607,967 		JBrowse link
G GLI2 GLI family zinc finger 2 ISO ClinVar Annotator: match by term: Arteriovenous malformations of the brain ClinVar PMID:25741868 NCBI chr10:9,302,890...9,561,287
Ensembl chr10:9,304,645...9,369,115 		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 chr22:18,416,143...18,489,855
Ensembl chr22:18,416,443...18,434,271 		JBrowse link
G IL6 interleukin 6 susceptibility ISO CTD Direct Evidence: marker/mechanism CTD
OMIM		 NCBI chr21:35,577,513...35,582,385
Ensembl chr21:35,577,939...35,582,237 		JBrowse link
G KDR kinase insert domain receptor ISO protein:increased expression:endothelial cell: RGD PMID:11220380 RGD:8551824 NCBI chr 7:13,435,059...13,482,236
Ensembl chr 7:13,435,096...13,482,771 		JBrowse link
G KRAS KRAS proto-oncogene, GTPase ISO 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 chr11:24,963,396...25,010,747
Ensembl chr11:24,973,619...25,005,191 		JBrowse link
G LEMD3 LEM domain containing 3 ISO ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 NCBI chr11:60,861,671...60,945,858
Ensembl chr11:60,862,265...60,946,040 		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 chr14:5,391,416...5,579,163
Ensembl chr14:5,391,449...5,583,916 		JBrowse link
G NLRP3 NLR family pyrin domain containing 3 ISO ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar NCBI chr25:84,431,436...84,463,387
Ensembl chr25:84,434,527...84,463,249 		JBrowse link
G NOTCH4 notch receptor 4 ISO ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 PMID:27231971 NCBI chr17:39,806,864...39,837,101
Ensembl chr17:39,808,035...39,837,365 		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 chr15:21,697,366...21,748,760
Ensembl chr15:21,706,675...21,749,470 		JBrowse link
G PITPNM3 PITPNM family member 3 ISO ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 NCBI chr16:5,830,107...5,934,979
Ensembl chr16:5,834,088...5,916,697 		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 chr 8:63,781,892...64,061,222
Ensembl chr 8:63,781,948...64,060,864 		JBrowse link
G SARS1 seryl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868
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 chr 1:55,719,578...55,792,950
Ensembl chr 1:55,722,250...55,791,371 		JBrowse link
G SYN3 synapsin III ISO ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 NCBI chr19:15,330,179...15,821,965 JBrowse link
G TIMP3 TIMP metallopeptidase inhibitor 3 ISO ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 NCBI chr19:15,621,609...15,684,118
Ensembl chr19:15,622,431...15,680,449 		JBrowse link
G VEGFA vascular endothelial growth factor A ISO RGD PMID:16388189 RGD:1580567 NCBI chr17:28,377,959...28,394,508 JBrowse link
G ZFYVE16 zinc finger FYVE-type containing 16 ISO ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 NCBI chr 4:74,579,573...74,644,331
Ensembl chr 4:74,579,982...74,644,784 		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 chr 4:81,373,812...81,392,454
Ensembl chr 4:81,373,994...81,392,326 		JBrowse link
G EPHB4 EPH receptor B4 ISO ClinVar Annotator: match by term: Capillary malformation-arteriovenous malformation syndrome ClinVar PMID:25741868 NCBI chr28:12,389,884...12,416,746
Ensembl chr28:12,389,942...12,416,920 		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 chr 4:81,249,851...81,371,486
Ensembl chr 4:81,249,805...81,370,453 		JBrowse link
G STAMBP STAM binding protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:23542699 NCBI chr14:33,417,342...33,453,507
Ensembl chr14:33,416,821...33,451,593 		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 chr 4:81,373,812...81,392,454
Ensembl chr 4:81,373,994...81,392,326 		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 chr11:24,963,396...25,010,747
Ensembl chr11:24,973,619...25,005,191 		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 chr15:10,218,034...10,304,874
Ensembl chr15:10,218,805...10,294,316 		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 chr 4:81,249,851...81,371,486
Ensembl chr 4:81,249,805...81,370,453 		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 chr28:12,389,884...12,416,746
Ensembl chr28:12,389,942...12,416,920 		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 chr28:12,358,618...12,374,117
Ensembl chr28:12,359,056...12,373,458 		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 ISO ClinVar Annotator: match by term: Cavernous malformations of CNS and retina ClinVar PMID:11831930 NCBI chr21:56,770,694...56,816,409
Ensembl chr21:56,774,487...56,816,049 		JBrowse link
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 ISO DNA:deletions: ; Cerebral cavernous malformations, OMIM:603284 RGD PMID:17160895 RGD:1600689 NCBI chr21:13,606,716...13,687,656
Ensembl chr21:13,606,472...13,656,275 		JBrowse link
G COL4A1 collagen type IV alpha 1 chain ISO DNA:snp:cds:p.G562E (human) RGD PMID:16598045 RGD:1581204 NCBI chr 3:88,410,800...88,564,191
Ensembl chr 3:88,412,168...88,564,057 		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 ISO ClinVar Annotator: match by term: Cerebral venous angioma ClinVar PMID:23650393 PMID:25741868 PMID:31680349 NCBI chr 4:81,373,812...81,392,454
Ensembl chr 4:81,373,994...81,392,326 		JBrowse link
G RASA1 RAS p21 protein activator 1 ISO ClinVar Annotator: match by term: Cerebral venous angioma ClinVar PMID:23650393 PMID:25741868 PMID:31680349 NCBI chr 4:81,249,851...81,371,486
Ensembl chr 4:81,249,805...81,370,453 		JBrowse link
cerebral cavernous malformation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AKAP9 A-kinase anchoring protein 9 ISO ClinVar Annotator: match by term: Cerebral cavernous malformation ClinVar PMID:10508515 PMID:11222804 PMID:12404106 PMID:17187287 PMID:17211633 More... NCBI chr21:56,889,669...57,061,526
Ensembl chr21:56,890,183...57,061,232 		JBrowse link
G ANKIB1 ankyrin repeat and IBR domain containing 1 ISO ClinVar Annotator: match by term: Cerebral cavernous malformation ClinVar PMID:25741868 NCBI chr21:56,621,669...56,770,553
Ensembl chr21:56,624,114...56,718,920 		JBrowse link
G CCM2 CCM2 scaffold protein ISO ClinVar Annotator: match by term: Cerebral cavernous malformation ClinVar PMID:25525273 PMID:25741868 PMID:28492532 NCBI chr21:13,606,716...13,687,656
Ensembl chr21:13,606,472...13,656,275 		JBrowse link
G CYP51A1 cytochrome P450 family 51 subfamily A member 1 ISO ClinVar Annotator: match by term: Cerebral cavernous malformation ClinVar PMID:10508515 PMID:11222804 PMID:12404106 PMID:17187287 PMID:17211633 More... NCBI chr21:56,865,498...56,888,196
Ensembl chr21:56,865,312...56,886,698 		JBrowse link
G FLT1 fms related receptor tyrosine kinase 1 ISO protein:increased expression:endothelial cell: RGD PMID:11220380 RGD:8551824 NCBI chr 3:7,412,506...7,608,122
Ensembl chr 3:7,412,172...7,607,967 		JBrowse link
G KDR kinase insert domain receptor ISO protein:increased expression:endothelial cell: RGD PMID:11220380 RGD:8551824 NCBI chr 7:13,435,059...13,482,236
Ensembl chr 7:13,435,096...13,482,771 		JBrowse link
G KRIT1 KRIT1 ankyrin repeat containing susceptibility ISO ClinVar Annotator: match by term: Cavernous Hemangioma of Brain | ClinVar Annotator: match by term: Cerebral cavernous malformation | ClinVar Annotator: match by term: Cerebral cavernous malformations RGD
ClinVar		 PMID:3393196 PMID:7898703 PMID:9065560 PMID:9536098 PMID:10508515 More... RGD:1598379 NCBI chr21:56,770,694...56,816,409
Ensembl chr21:56,774,487...56,816,049 		JBrowse link
G LRRD1 leucine rich repeats and death domain containing 1 ISO ClinVar Annotator: match by term: Cerebral cavernous malformation ClinVar PMID:10508515 PMID:11222804 PMID:12404106 PMID:17187287 PMID:17211633 More... NCBI chr21:56,834,845...56,856,287
Ensembl chr21:56,835,305...56,856,108 		JBrowse link
G MTERF1 mitochondrial transcription termination factor 1 ISO ClinVar Annotator: match by term: Cerebral cavernous malformation ClinVar PMID:10508515 PMID:11222804 PMID:12404106 PMID:17187287 PMID:17211633 More... NCBI chr21:57,108,499...57,116,113
Ensembl chr21:57,108,537...57,116,106 		JBrowse link
G NOTCH3 notch receptor 3 ISO ClinVar Annotator: match by term: Cerebral cavernous malformation ClinVar PMID:25741868 PMID:28492532 NCBI chr 6:13,762,570...13,803,676
Ensembl chr 6:13,761,512...13,793,359 		JBrowse link
G PDCD10 programmed cell death 10 ISO ClinVar Annotator: match by term: Cavernous Hemangioma of Brain | ClinVar Annotator: match by term: Cerebral cavernous malformation ClinVar PMID:15543491 PMID:18035376 PMID:18300272 PMID:23485406 PMID:23595507 More... NCBI chr15:21,697,366...21,748,760
Ensembl chr15:21,706,675...21,749,470 		JBrowse link
G PON1 paraoxonase 1 susceptibility ISO DNA:missense mutations:cds:p.L55M, p.Q192R (human) RGD PMID:26122242 RGD:11552573 NCBI chr21:53,713,434...53,739,658
Ensembl chr21:53,714,012...53,739,875 		JBrowse link
G PTEN phosphatase and tensin homolog ISO protein:decreased expression:brain (human) RGD PMID:19061355 RGD:12859036 NCBI chr 9:81,308,058...81,412,386
Ensembl chr 9:81,309,099...81,409,146 		JBrowse link
G SERPINI1 serpin family I member 1 ISO ClinVar Annotator: match by term: Cavernous Hemangioma of Brain | ClinVar Annotator: match by term: Cerebral cavernous malformation ClinVar PMID:25741868 NCBI chr15:21,610,545...21,696,611
Ensembl chr15:21,610,791...21,645,701 		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 ISO ClinVar Annotator: match by term: Cerebral cavernous malformation 1 | ClinVar Annotator: match by term: KRIT1-Related Disorders OMIM
ClinVar		 PMID:3393196 PMID:7898703 PMID:9065560 PMID:10508515 PMID:10545614 More... NCBI chr21:56,770,694...56,816,409
Ensembl chr21:56,774,487...56,816,049 		JBrowse link
G PDCD10 programmed cell death 10 ISO ClinVar Annotator: match by term: Cerebral cavernous malformation 1 ClinVar PMID:25741868 NCBI chr15:21,697,366...21,748,760
Ensembl chr15:21,706,675...21,749,470 		JBrowse link
G PTGIS prostaglandin I2 synthase exacerbates ISO DNA:silent mutation:CDS:p.L256L (rs5628) (human) RGD PMID:26795600 RGD:401960081 NCBI chr 2:14,420,318...14,484,667
Ensembl chr 2:14,441,983...14,488,264 		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 ISO ClinVar Annotator: match by term: Cerebral cavernous malformation 2 OMIM
ClinVar		 PMID:2468908 PMID:9536098 PMID:14624391 PMID:14740320 PMID:15122722 More... NCBI chr21:13,606,716...13,687,656
Ensembl chr21:13,606,472...13,656,275 		JBrowse link
G NACAD NAC alpha domain containing ISO ClinVar Annotator: match by term: Cerebral cavernous malformation 2 ClinVar PMID:17160895 PMID:28492532 NCBI chr21:13,594,969...13,603,436
Ensembl chr21:13,598,304...13,605,614 		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 exacerbates
onset		 ISO ClinVar Annotator: match by term: Cerebral cavernous malformation 3 | ClinVar Annotator: match by term: Cerebral cavernous malformations 3
DNA:mutations:multiple (human)		 OMIM
ClinVar
RGD		 PMID:9536098 PMID:15543491 PMID:16199547 PMID:16329096 PMID:16380626 More... RGD:401827114 RGD:401827115 NCBI chr15:21,697,366...21,748,760
Ensembl chr15:21,706,675...21,749,470 		JBrowse link
G SERPINI1 serpin family I member 1 ISO ClinVar Annotator: match by term: Cerebral cavernous malformation 3 ClinVar PMID:15543491 PMID:18300272 PMID:23801932 PMID:25741868 PMID:28492532 NCBI chr15:21,610,545...21,696,611
Ensembl chr15:21,610,791...21,645,701 		JBrowse link
Cerebral Cavernous Malformation 4 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: Cerebral cavernous malformation 4 OMIM
ClinVar		 PMID:25741868 NCBI chr15:10,218,034...10,304,874
Ensembl chr15:10,218,805...10,294,316 		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 chr12:88,386,597...88,606,787
Ensembl chr12:88,385,377...88,605,845 		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 chr15:10,218,034...10,304,874
Ensembl chr15:10,218,805...10,294,316 		JBrowse link
CLOVES syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GNA11 G protein subunit alpha 11 ISO ClinVar Annotator: match by term: Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi ClinVar PMID:25741868 PMID:27476652 NCBI chr 6:2,858,880...2,887,694
Ensembl chr 6:2,858,937...2,887,704 		JBrowse link
G PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha ISO ClinVar Annotator: match by term: CLOVE SYNDROME | ClinVar Annotator: match by term: CLOVES syndrome | ClinVar Annotator: match by term: CONGENITAL LIPOMATOUS OVERGROWTH, VASCULAR MALFORMATIONS, EPIDERMAL NEVI, AND SKELETAL/SPINAL ABNORMALITIES | ClinVar Annotator: match by term: Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi OMIM
ClinVar		 PMID:15016963 PMID:15254419 PMID:15520168 PMID:15608678 PMID:15647370 More... NCBI chr15:10,218,034...10,304,874
Ensembl chr15:10,218,805...10,294,316 		JBrowse link
G PIK3R1 phosphoinositide-3-kinase regulatory subunit 1 ISO ClinVar Annotator: match by term: CLOVES syndrome ClinVar PMID:25741868 PMID:34040190 NCBI chr 4:64,321,296...64,406,188
Ensembl chr 4:64,321,078...64,406,519 		JBrowse link
Familial Cerebral Cavernous Malformation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CAND2 cullin associated and neddylation dissociated 2 (putative) ISO RGD PMID:31426861 RGD:18899564 NCBI chr22:48,771,419...48,809,911
Ensembl chr22:48,771,987...48,809,093 		JBrowse link
familial multiple nevi flammei term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GNA11 G protein subunit alpha 11 ISO ClinVar Annotator: match by term: Capillary malformations, congenital ClinVar PMID:25741868 PMID:27476652 NCBI chr 6:2,858,880...2,887,694
Ensembl chr 6:2,858,937...2,887,704 		JBrowse link
G GNAQ G protein subunit alpha q ISO ClinVar Annotator: match by term: Familial multiple nevi flammei | ClinVar Annotator: match by term: Port-wine stain familial multiple OMIM
ClinVar		 PMID:23656586 PMID:25188413 PMID:25741868 NCBI chr12:88,666,375...88,988,989
Ensembl chr12:88,670,424...88,871,154 		JBrowse link
G PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha ISO ClinVar Annotator: match by term: Capillary malformations, congenital ClinVar PMID:15930273 PMID:17376864 PMID:18074223 PMID:22120714 PMID:22658544 More... NCBI chr15:10,218,034...10,304,874
Ensembl chr15:10,218,805...10,294,316 		JBrowse link
hereditary hemorrhagic telangiectasia 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 ClinVar Annotator: match by term: Hereditary hemorrhagic telangiectasia
ClinVar Annotator: match by term: Hereditary hemorrhagic telangiectasia | ClinVar Annotator: match by term: Osler hemorrhagic telangiectasia syndrome		 ClinVar PMID:9245985 PMID:9536098 PMID:10767348 PMID:10946360 PMID:12114496 More... NCBI chr11:48,063,099...48,091,705
Ensembl chr11:48,082,135...48,093,630 		JBrowse link
G AK1 adenylate kinase 1 ISO ClinVar Annotator: match by term: Hereditary hemorrhagic telangiectasia ClinVar PMID:15879500 PMID:20414677 PMID:28492532 NCBI chr12:10,251,793...10,261,635
Ensembl chr12:10,256,054...10,261,465 		JBrowse link
G CCNH cyclin H ISO ClinVar Annotator: match by term: Osler hemorrhagic telangiectasia syndrome ClinVar PMID:18446851 PMID:24038909 PMID:25741868 PMID:28295764 PMID:28492532 More... NCBI chr 4:81,373,812...81,392,454
Ensembl chr 4:81,373,994...81,392,326 		JBrowse link
G CIAO3 cytosolic iron-sulfur assembly component 3 ISO ClinVar Annotator: match by term: Pulmonary arteriovenous malformation ClinVar NCBI chr 5:649,457...661,085
Ensembl chr 5:650,100...660,518 		JBrowse link
G DPM2 dolichyl-phosphate mannosyltransferase subunit 2, regulatory ISO ClinVar Annotator: match by term: Hereditary hemorrhagic telangiectasia ClinVar PMID:15879500 PMID:20414677 PMID:28492532 NCBI chr12:10,184,087...10,187,463
Ensembl chr12:10,185,040...10,187,279 		JBrowse link
G ENG endoglin no_association ISO ClinVar Annotator: match by term: Hereditary hemorrhagic telangiectasia | ClinVar Annotator: match by term: Osler-Rendu-Weber disease
ClinVar Annotator: match by term: Hereditary hemorrhagic telangiectasia | ClinVar Annotator: match by term: Osler hemorrhagic telangiectasia syndrome | ClinVar Annotator: match by term: Osler-Rendu-Weber disease		 RGD
ClinVar		 PMID:7894484 PMID:8162075 PMID:8595426 PMID:9157574 PMID:9245986 More... RGD:11041566 NCBI chr12:10,274,705...10,315,715
Ensembl chr12:10,275,064...10,315,040 		JBrowse link
G GDF2 growth differentiation factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26801773 NCBI chr 9:44,087,502...44,092,975
Ensembl chr 9:44,089,358...44,092,484 		JBrowse link
G PIP5KL1 phosphatidylinositol-4-phosphate 5-kinase like 1 ISO ClinVar Annotator: match by term: Hereditary hemorrhagic telangiectasia ClinVar PMID:15879500 PMID:20414677 PMID:28492532 NCBI chr12:10,191,317...10,201,268
Ensembl chr12:10,191,818...10,200,949 		JBrowse link
G RASA1 RAS p21 protein activator 1 ISO ClinVar Annotator: match by term: Osler hemorrhagic telangiectasia syndrome ClinVar PMID:18446851 PMID:24038909 PMID:25741868 PMID:28295764 PMID:28492532 More... NCBI chr 4:81,249,851...81,371,486
Ensembl chr 4:81,249,805...81,370,453 		JBrowse link
G SMAD4 SMAD family member 4 ISO ClinVar Annotator: match by term: Osler hemorrhagic telangiectasia syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr18:29,894,157...29,951,445
Ensembl chr18:29,897,621...29,934,478 		JBrowse link
G ST6GALNAC4 ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 4 ISO ClinVar Annotator: match by term: Hereditary hemorrhagic telangiectasia ClinVar PMID:15879500 PMID:20414677 PMID:28492532 NCBI chr12:10,205,665...10,215,180
Ensembl chr12:10,205,705...10,214,688 		JBrowse link
G ST6GALNAC6 ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 6 ISO ClinVar Annotator: match by term: Hereditary hemorrhagic telangiectasia ClinVar PMID:15879500 PMID:20414677 PMID:28492532 NCBI chr12:10,217,546...10,238,317
Ensembl chr12:10,218,036...10,238,350 		JBrowse link
G TNF tumor necrosis factor ISO protein:decreased expression:blood, lymphocyte RGD PMID:16611101 RGD:10450733
Hereditary Hemorrhagic Telangiectasia, Type 1 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 ClinVar Annotator: match by term: Telangiectasia, hereditary hemorrhagic, type 1 ClinVar PMID:9536098 PMID:15024723 PMID:15065824 PMID:15517393 PMID:15712271 More... NCBI chr11:48,063,099...48,091,705
Ensembl chr11:48,082,135...48,093,630 		JBrowse link
G ENG endoglin ISO ClinVar Annotator: match by term: ENG-related condition | ClinVar Annotator: match by term: Haemorrhagic telangiectasia 1 | ClinVar Annotator: match by term: Telangiectasia, hereditary hemorrhagic, type 1 OMIM
ClinVar		 PMID:2601709 PMID:7894484 PMID:8162075 PMID:8595426 PMID:9245986 More... NCBI chr12:10,274,705...10,315,715
Ensembl chr12:10,275,064...10,315,040 		JBrowse link
G PSEN1 presenilin 1 ISO ClinVar Annotator: match by term: Telangiectasia, hereditary hemorrhagic, type 1 ClinVar PMID:25741868 PMID:29142009 PMID:30822634 PMID:32235595 NCBI chr24:50,394,310...50,476,521
Ensembl chr24:50,405,590...50,472,132 		JBrowse link
G SMAD4 SMAD family member 4 ISO ClinVar Annotator: match by term: Telangiectasia, hereditary hemorrhagic, type 1 ClinVar PMID:25741868 NCBI chr18:29,894,157...29,951,445
Ensembl chr18:29,897,621...29,934,478 		JBrowse link
G TGFB1 transforming growth factor beta 1 ISO protein:decreased expression:plasma: RGD PMID:15907823 RGD:11041166 NCBI chr 6:35,651,583...35,674,387
Ensembl chr 6:35,648,677...35,674,365 		JBrowse link
Hereditary Hemorrhagic Telangiectasia, Type 2 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 ClinVar Annotator: match by term: Lip telangiectasia | ClinVar Annotator: match by term: Telangiectasia, hereditary hemorrhagic, type 2 OMIM
ClinVar		 PMID:6470589 PMID:8640225 PMID:9245985 PMID:9536098 PMID:10187774 More... NCBI chr11:48,063,099...48,091,705
Ensembl chr11:48,082,135...48,093,630 		JBrowse link
G ENG endoglin ISO ClinVar Annotator: match by term: Oral cavity telangiectasia ClinVar PMID:25741868 NCBI chr12:10,274,705...10,315,715
Ensembl chr12:10,275,064...10,315,040 		JBrowse link
Hereditary Hemorrhagic Telangiectasia, Type 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GDF2 growth differentiation factor 2 ISO ClinVar Annotator: match by term: Telangiectasia, hereditary hemorrhagic, type 5 OMIM
ClinVar		 PMID:23972370 PMID:25741868 PMID:26801773 PMID:27081547 PMID:28492532 More... NCBI chr 9:44,087,502...44,092,975
Ensembl chr 9:44,089,358...44,092,484 		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 ISO ClinVar Annotator: match by term: Hyperkeratotic cutaneous capillary-venous malformations associated with cerebral capillary malformations ClinVar PMID:10814716 NCBI chr21:56,770,694...56,816,409
Ensembl chr21:56,774,487...56,816,049 		JBrowse link
juvenile polyposis-hereditary hemorrhagic telangiectasia syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SMAD4 SMAD family member 4 ISO ClinVar Annotator: match by term: JP/HHT SYNDROME | ClinVar Annotator: match by term: JUVENILE POLYPOSIS WITH HEREDITARY HEMORRHAGIC TELANGIECTASIA | ClinVar Annotator: match by term: Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome | ClinVar Annotator: match by term: TELANGIECTASIA, HEREDITARY HEMORRHAGIC, WITH JUVENILE POLYPOSIS COLI OMIM
ClinVar		 PMID:6604412 PMID:8898652 PMID:9214508 PMID:9285566 PMID:9536098 More... NCBI chr18:29,894,157...29,951,445
Ensembl chr18:29,897,621...29,934,478 		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 chr14:33,417,342...33,453,507
Ensembl chr14:33,416,821...33,451,593 		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 chr20:98,092,282...98,095,036
Ensembl chr20:98,092,785...98,093,786 		JBrowse link
Patent Ductus Venosus term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AHR aryl hydrocarbon receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:36029422 NCBI chr21:40,778,198...40,826,491
Ensembl chr21:40,778,218...40,826,478 		JBrowse link
G CYP2E1 cytochrome P450 family 2 subfamily E member 1 ISO RGD PMID:24924401 RGD:14700900 NCBI chr26:53,390,054...53,403,309
Ensembl chr26:53,390,089...53,404,211 		JBrowse link
Primary Intraosseous Vascular Malformation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ELMO2 engulfment and cell motility 2 ISO ClinVar Annotator: match by term: Vascular malformation, primary intraosseous OMIM
ClinVar		 PMID:11932989 PMID:25741868 PMID:27476657 PMID:28492532 NCBI chr 2:17,477,425...17,518,814
Ensembl chr 2:17,489,658...17,518,843 		JBrowse link
Pulmonary Atresia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ARHGAP5 Rho GTPase activating protein 5 ISO ClinVar Annotator: match by term: Pulmonary artery atresia ClinVar NCBI chr24:8,914,485...8,986,498
Ensembl chr24:8,928,252...8,988,302 		JBrowse link
G BCLAF1 BCL2 associated transcription factor 1 ISO ClinVar Annotator: match by term: Pulmonary artery atresia ClinVar NCBI chr13:37,133,898...37,165,296
Ensembl chr13:37,143,772...37,166,793 		JBrowse link
G CDC27 cell division cycle 27 ISO ClinVar Annotator: match by term: Pulmonary artery atresia ClinVar NCBI chr16:59,497,731...59,564,298
Ensembl chr16:59,497,713...59,564,480 		JBrowse link
G CNN2 calponin 2 ISO ClinVar Annotator: match by term: Pulmonary artery atresia ClinVar
G CTBP2 C-terminal binding protein 2 ISO ClinVar Annotator: match by term: Pulmonary artery atresia ClinVar PMID:25741868 NCBI chr 9:117,635,124...117,806,908
Ensembl chr 9:117,639,317...117,804,850 		JBrowse link
G FRG1 FSHD region gene 1 ISO ClinVar Annotator: match by term: Pulmonary artery atresia ClinVar NCBI chr 7:135,697,624...135,720,664
Ensembl chr 7:135,697,640...135,723,963 		JBrowse link
G GATA4 GATA binding protein 4 ISO ClinVar Annotator: match by term: Pulmonary valve atresia ClinVar PMID:18055909 PMID:20981092 PMID:25741868 PMID:27535533 PMID:28492532 NCBI chr 8:7,348,145...7,432,574
Ensembl chr 8:7,349,660...7,400,562 		JBrowse link
G NODAL nodal growth differentiation factor susceptibility ISO DNA:mutations RGD PMID:19064609 RGD:11568370 NCBI chr 9:60,852,567...60,863,225
Ensembl chr 9:60,853,763...60,862,839 		JBrowse link
G NUP153 nucleoporin 153 ISO ClinVar Annotator: match by term: Pulmonary artery atresia ClinVar NCBI chr17:54,426,383...54,518,986
Ensembl chr17:54,426,289...54,519,249 		JBrowse link
G PABPC1 poly(A) binding protein cytoplasmic 1 ISO ClinVar Annotator: match by term: Pulmonary artery atresia ClinVar NCBI chr 8:95,560,551...95,578,627
Ensembl chr 8:95,561,930...95,578,633 		JBrowse link
G SDHA succinate dehydrogenase complex flavoprotein subunit A ISO ClinVar Annotator: match by term: Pulmonary artery atresia ClinVar PMID:25741868 NCBI chr 4:163,726...190,145 JBrowse link
Pulmonary Atresia with Intact Ventricular Septum term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TPM1 tropomyosin 1 ISO ClinVar Annotator: match by term: Pulmonary atresia with intact ventricular septum ClinVar PMID:28359939 NCBI chr26:20,458,287...20,487,387
Ensembl chr26:20,466,037...20,487,135 		JBrowse link
Pulmonary Atresia with Ventricular Septal Defect term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FOXP1 forkhead box P1 ISO ClinVar Annotator: match by term: Pulmonary atresia with ventricular septal defect ClinVar PMID:25741868 PMID:28492532 NCBI chr22:31,907,941...32,538,294
Ensembl chr22:31,912,460...32,154,502 		JBrowse link
retinal arterial tortuosity term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL4A1 collagen type IV alpha 1 chain ISO ClinVar Annotator: match by term: Retinal arterial tortuosity | ClinVar Annotator: match by term: Retinal arteries, tortuosity of ClinVar
OMIM		 PMID:3691802 PMID:7695699 PMID:8218237 PMID:9016532 PMID:9536098 More... NCBI chr 3:88,410,800...88,564,191
Ensembl chr 3:88,412,168...88,564,057 		JBrowse link
G KAT6B lysine acetyltransferase 6B ISO ClinVar Annotator: match by term: Retinal arterial tortuosity ClinVar PMID:25741868 NCBI chr 9:56,340,579...56,525,809
Ensembl chr 9:56,340,026...56,536,512 		JBrowse link
Scimitar Anomaly, Multiple Cardiac Malformations, and Craniofacial and Central Nervous System Abnormalities term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACBD5 acyl-CoA binding domain containing 5 ISO ClinVar Annotator: match by term: Scimitar anomaly, multiple cardiac malformations, and craniofacial and central nervous system abnormalities ClinVar PMID:25741868 NCBI chr 9:26,795,072...26,844,013
Ensembl chr 9:26,794,822...26,842,134 		JBrowse link
G MASTL microtubule associated serine/threonine kinase like ISO ClinVar Annotator: match by term: Scimitar anomaly, multiple cardiac malformations, and craniofacial and central nervous system abnormalities ClinVar PMID:25741868 NCBI chr 9:26,752,354...26,786,802
Ensembl chr 9:26,753,331...26,787,019 		JBrowse link
scimitar syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANKRD1 ankyrin repeat domain 1 ISO ClinVar Annotator: match by term: TOTAL ANOMALOUS PULMONARY VENOUS RETURN 1 | ClinVar Annotator: match by term: Total anomalous pulmonary venous return ClinVar PMID:19525294 PMID:19608031 PMID:23299917 PMID:23861362 PMID:24033266 More... NCBI chr 9:84,248,133...84,257,276
Ensembl chr 9:84,247,241...84,257,170 		JBrowse link
G BMP7 bone morphogenetic protein 7 ISO ClinVar Annotator: match by term: Total anomalous pulmonary venous return ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:6,856,396...6,954,948
Ensembl chr 2:6,856,453...6,954,944 		JBrowse link
G IFT88 intraflagellar transport 88 ISO OMIM:106700 MouseDO NCBI chr 3:435,649...546,661
Ensembl chr 3:436,207...546,583 		JBrowse link
G MYRF myelin regulatory factor ISO ClinVar Annotator: match by term: Scimitar syndrome ClinVar PMID:25741868 NCBI chr 1:12,066,277...12,103,091 JBrowse link
G PDGFRA platelet derived growth factor receptor alpha ISO OMIM:106700 MouseDO NCBI chr 7:14,243,291...14,307,373
Ensembl chr 7:14,241,070...14,307,422 		JBrowse link
G SMAD2 SMAD family member 2 ISO ClinVar Annotator: match by term: Anomalous pulmonary venous return ClinVar NCBI chr18:33,017,138...33,105,320
Ensembl chr18:33,017,492...33,104,606 		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 chr 2:80,457,907...80,535,855
Ensembl chr 2:80,458,270...80,458,989 		JBrowse link
G EPHB4 EPH receptor B4 ISO ClinVar Annotator: match by term: Galen vein aneurysm ClinVar PMID:30578106 NCBI chr28:12,389,884...12,416,746
Ensembl chr28:12,389,942...12,416,920 		JBrowse link
G KAT6A lysine acetyltransferase 6A ISO ClinVar Annotator: match by term: Galen vein aneurysm ClinVar PMID:30578106 NCBI chr 8:39,912,120...40,035,776
Ensembl chr 8:39,911,776...39,962,735 		JBrowse link
G KEL Kell metallo-endopeptidase (Kell blood group) ISO ClinVar Annotator: match by term: Galen vein aneurysm ClinVar PMID:30578106 NCBI chr21:111,819,230...111,846,966
Ensembl chr21:111,819,368...111,840,142 		JBrowse link
G KMT2D lysine methyltransferase 2D ISO ClinVar Annotator: match by term: Galen vein aneurysm ClinVar PMID:28492532 PMID:30578106 NCBI chr11:45,260,873...45,303,898
Ensembl chr11:45,263,408...45,302,423 		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 chr12:77,364,468...77,546,356
Ensembl chr12:77,375,500...77,546,314 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15388
    disease of anatomical entity 15074
      cardiovascular system disease 4393
        Cardiovascular Abnormalities 1569
          Vascular Malformations 121
            Arterio-Arterial Fistula + 0
            CLOVES syndrome 3
            Central Nervous System Vascular Malformations + 51
            Distichiasis with Congenital Anomalies of the Heart and Peripheral Vasculature 0
            Hemophilia A with Vascular Abnormality 0
            May-Thurner Syndrome 0
            Meningioangiomatosis 0
            Microcephaly-Capillary Malformation Syndrome 1
            Patent Ductus Venosus 2
            Prepapillary Vascular Loops 0
            Primary Intraosseous Vascular Malformation 1
            Pulmonary Atresia + 13
            Single Umbilical Artery 0
            Splenoportal Vascular Anomalies 0
            Vascular Fistula + 15
            arterial tortuosity syndrome 6
            arteriovenous malformation + 55
            familial multiple nevi flammei 3
            hereditary hemorrhagic telangiectasia + 15
            retinal arterial tortuosity 2
            scimitar syndrome + 8
Path 2
Term Annotations click to browse term
  disease 15388
    Developmental Disease 13448
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 12573
        Congenital Abnormalities 7567
          Cardiovascular Abnormalities 1569
            Vascular Malformations 121
              Arterio-Arterial Fistula + 0
              CLOVES syndrome 3
              Central Nervous System Vascular Malformations + 51
              Distichiasis with Congenital Anomalies of the Heart and Peripheral Vasculature 0
              Hemophilia A with Vascular Abnormality 0
              May-Thurner Syndrome 0
              Meningioangiomatosis 0
              Microcephaly-Capillary Malformation Syndrome 1
              Patent Ductus Venosus 2
              Prepapillary Vascular Loops 0
              Primary Intraosseous Vascular Malformation 1
              Pulmonary Atresia + 13
              Single Umbilical Artery 0
              Splenoportal Vascular Anomalies 0
              Vascular Fistula + 15
              arterial tortuosity syndrome 6
              arteriovenous malformation + 55
              familial multiple nevi flammei 3
              hereditary hemorrhagic telangiectasia + 15
              retinal arterial tortuosity 2
              scimitar syndrome + 8
paths to the root