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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:hemangioma
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Accession:DOID:255 term browser browse the term
Definition:A cardiovascular organ benign neoplasm that has_material_basis_in endothelial cells that line blood vessels and is characterized by increased number of normal or abnormal vessels filled with blood. (DO)
Synonyms:exact_synonym: angioma;   chorangioma;   chorangiomas;   hemangiomas
 narrow_synonym: glabellar hemangioma
 primary_id: MESH:D006391
 xref: EFO:0009908;   EFO:1000635;   ICD9CM:228.00;   NCI:C3085
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
hemangioma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FOXO1 forkhead box O1 ISO RGD PMID:17254969 RGD:155630604 NCBI chr11:15,317,222...15,410,059
Ensembl chr11:15,317,124...15,410,473 		JBrowse link
G FOXO3 forkhead box O3 ISO RGD PMID:17254969 RGD:155630604 NCBI chr 1:74,626,673...74,760,323
Ensembl chr 1:74,628,218...74,760,325 		JBrowse link
G FOXO4 forkhead box O4 ISO RGD PMID:17254969 RGD:155630604 NCBI chr  X:57,132,549...57,140,377
Ensembl chr  X:57,132,548...57,140,356 		JBrowse link
G FOXP1 forkhead box P1 ISO ClinVar Annotator: match by term: Glabellar hemangioma ClinVar PMID:25741868 NCBI chr13:52,346,844...52,974,358
Ensembl chr13:52,348,234...52,876,892 		JBrowse link
G IDH1 isocitrate dehydrogenase (NADP(+)) 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22057234 NCBI chr15:111,341,153...111,362,330
Ensembl chr15:111,341,153...111,362,296 		JBrowse link
G IDH2 isocitrate dehydrogenase (NADP(+)) 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22057234 NCBI chr 7:55,654,298...55,675,571
Ensembl chr 7:55,651,609...55,675,554 		JBrowse link
G LOC100525350 polyprenol reductase ISO ClinVar Annotator: match by term: Hemangioma ClinVar PMID:25741868 PMID:28492532 NCBI chr 8:42,024,352...42,049,209 JBrowse link
G MMP2 matrix metallopeptidase 2 ISO RGD PMID:19821096 RGD:8657063 NCBI chr 6:30,059,247...30,087,031
Ensembl chr 6:30,058,595...30,086,982 		JBrowse link
G NOTCH1 notch receptor 1 ISO ClinVar Annotator: match by term: Hemangioma ClinVar PMID:25741868
G PTEN phosphatase and tensin homolog ISO ClinVar Annotator: match by term: Hemangioma ClinVar PMID:9467011 PMID:21194675 PMID:28492532 NCBI chr14:99,929,590...100,021,619 JBrowse link
G SLC2A1 solute carrier family 2 member 1 ISO RGD PMID:10665907 RGD:12879499 NCBI chr 6:168,535,398...168,561,170
Ensembl chr 6:168,535,440...168,560,867 		JBrowse link
G TSC2 TSC complex subunit 2 ISO RGD PMID:10096549 RGD:11568655 NCBI chr 3:39,898,924...39,935,579
Ensembl chr 3:39,898,925...39,937,371 		JBrowse link
G YAP1 Yes1 associated transcriptional regulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:31351048 NCBI chr 9:32,811,629...32,924,926
Ensembl chr 9:32,811,416...32,925,603 		JBrowse link
angiokeratoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GLA galactosidase alpha ISO CTD Direct Evidence: therapeutic CTD PMID:19925601 NCBI chr  X:83,024,582...83,032,273
Ensembl chr  X:83,023,903...83,032,570 		JBrowse link
G NAGA alpha-N-acetylgalactosaminidase ISO Kanzaki Disease, OMIM:609242, DNA:point mutation:exon:R329W RGD PMID:8040340 RGD:1600558 NCBI chr 5:6,580,141...6,587,550
Ensembl chr 5:6,571,020...6,588,055 		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 chr 9:72,184,805...72,328,765
Ensembl chr 9:72,184,815...72,328,763 		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 chr 9:72,143,652...72,184,774
Ensembl chr 9:72,142,835...72,185,661 		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 (peptidyl-dipeptidase A) 1 treatment ISO protein:increased activity:heart left ventricle (rat) RGD PMID:8386093 PMID:22768235 RGD:12859285 RGD:12880017 NCBI chr12:15,394,487...15,414,609
Ensembl chr12:15,394,487...15,414,703 		JBrowse link
G ACKR1 atypical chemokine receptor 1 ISO RGD PMID:24429330 RGD:9681736 NCBI chr 4:91,224,089...91,225,610
Ensembl chr 4:91,224,139...91,225,850 		JBrowse link
G ANGPT2 angiopoietin 2 ISO mRNA:increased expression:lung (rat) RGD PMID:18692629 RGD:2314184 NCBI chr15:37,544,177...37,600,925
Ensembl chr15:37,544,707...37,599,041 		JBrowse link
G ARRB1 arrestin beta 1 ISO mRNA, protein:altered expression:left ventricle (rat) RGD PMID:22015551 RGD:5509867 NCBI chr 9:9,516,944...9,597,446
Ensembl chr 9:9,516,947...9,597,976 		JBrowse link
G ARRB2 arrestin beta 2 ISO mRNA, protein:altered expression:left ventricle (rat) RGD PMID:22015551 RGD:5509867 NCBI chr12:52,161,776...52,170,362
Ensembl chr12:52,161,778...52,170,342 		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 chr12:26,379,087...26,397,180
Ensembl chr12:26,379,090...26,397,004 		JBrowse link
G DES desmin ISO RGD PMID:10591032 RGD:13525010 NCBI chr15:121,428,539...121,435,426
Ensembl chr15:121,427,642...121,435,423 		JBrowse link
G FGF2 fibroblast growth factor 2 ISO RGD PMID:10541235 RGD:8655590 NCBI chr 8:101,278,877...101,344,084
Ensembl chr 8:101,278,885...101,343,916 		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 6:30,059,247...30,087,031
Ensembl chr 6:30,058,595...30,086,982 		JBrowse link
G MMP9 matrix metallopeptidase 9 treatment ISO RGD PMID:17398390 PMID:23924957 RGD:13204800 RGD:1642040 NCBI chr17:48,179,690...48,186,782
Ensembl chr17:48,179,671...48,186,788 		JBrowse link
G NOS3 nitric oxide synthase 3 ISO protein:increased expression:vena cava RGD PMID:17344190 RGD:2292146 NCBI chr18:6,209,218...6,228,912
Ensembl chr18:6,209,158...6,228,943 		JBrowse link
G RBP4 retinol binding protein 4 exacerbates ISO protein:increased expression:blood serum (human) RGD PMID:33556944 RGD:329845868 NCBI chr14:105,037,360...105,044,552
Ensembl chr14:105,037,464...105,044,765 		JBrowse link
G TIMP4 TIMP metallopeptidase inhibitor 4 ISO protein:decreased expression:ileal vein RGD PMID:17398390 RGD:1642040 NCBI chr13:68,179,803...68,191,199
Ensembl chr13:68,179,806...68,190,942 		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 chr 7:38,746,393...38,762,282
Ensembl chr 7:38,746,052...38,761,366 		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 chr 5:17,267,483...17,284,155
Ensembl chr 5:17,268,130...17,286,276 		JBrowse link
G ENG endoglin susceptibility ISO associated with Telangiectasia, Hereditary Hemorrhagic; RGD PMID:8728706 PMID:24520391 RGD:11041184 RGD:11041564 NCBI chr 1:268,309,379...268,343,861
Ensembl chr 1:268,309,400...268,343,783 		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 chr 3:8,671,052...8,689,778
Ensembl chr 3:8,668,859...8,689,783 		JBrowse link
G GLMN glomulin, FKBP associated protein ISO glomuvenous malformations RGD PMID:11845407 RGD:1598992 NCBI chr 4:124,773,957...124,813,336
Ensembl chr 4:124,773,980...124,813,335 		JBrowse link
G MAP2 microtubule associated protein 2 ISO protein:decreased expression:hippocampus RGD PMID:20873448 RGD:6483324 NCBI chr15:112,156,578...112,462,932
Ensembl chr15:112,236,119...112,462,929 		JBrowse link
G MIR10A microRNA mir-10a ISO miRNA:decreased expression:blood plasma (human) RGD PMID:23051042 RGD:155582214 NCBI chr12:24,833,644...24,833,723
Ensembl chr12:24,833,627...24,833,730 		JBrowse link
G MIR193A microRNA mir-193a ISO miRNA:decreased expression:blood plasma (human) RGD PMID:23051042 RGD:155582214 NCBI chr12:43,336,969...43,337,048
Ensembl chr12:43,336,969...43,337,048 		JBrowse link
G MIR214 microRNA mir-214 ISO miRNA:increased expression:blood plasma (human) RGD PMID:23051042 RGD:155582214 NCBI chr 9:114,527,992...114,528,101
Ensembl chr 9:114,527,990...114,528,101 		JBrowse link
G MMP9 matrix metallopeptidase 9 ISO RGD PMID:16720380 RGD:1582655 NCBI chr17:48,179,690...48,186,782
Ensembl chr17:48,179,671...48,186,788 		JBrowse link
G RASA1 RAS p21 protein activator 1 ISO CTD Direct Evidence: marker/mechanism RGD
CTD		 PMID:14639529 PMID:15917201 RGD:1581296 NCBI chr 2:94,879,615...94,992,725
Ensembl chr 2:94,878,911...94,993,450 		JBrowse link
G TEK TEK receptor tyrosine kinase susceptibility ISO DNA:missense mutation: :p.R849W RGD PMID:8980225 RGD:1578533 NCBI chr 1:195,938,177...196,052,294
Ensembl chr 1:195,937,432...196,051,980 		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 chr 5:17,267,483...17,284,155
Ensembl chr 5:17,268,130...17,286,276 		JBrowse link
G ADGRV1 adhesion G protein-coupled receptor V1 ISO ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 NCBI chr 2:97,703,648...98,277,847
Ensembl chr 2:97,735,053...98,275,748 		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 chr18:8,957,963...9,132,558
Ensembl chr18:8,957,991...9,132,553 		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 3:40,637,420...40,694,616
Ensembl chr 3:40,637,427...40,695,177 		JBrowse link
G CDH2 cadherin 2 ISO ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 NCBI chr 6:112,396,713...112,629,073
Ensembl chr 6:112,396,721...112,628,432 		JBrowse link
G EGFR epidermal growth factor receptor ISO ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 NCBI chr 9:139,302,410...139,474,632
Ensembl chr 9:139,300,022...139,475,589 		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 chr 1:268,309,379...268,343,861
Ensembl chr 1:268,309,400...268,343,783 		JBrowse link
G FLT1 fms related receptor tyrosine kinase 1 ISO protein:increased expression:endothelial cell: RGD PMID:11220380 RGD:8551824 NCBI chr11:5,620,698...5,797,095
Ensembl chr11:5,621,212...5,795,264 		JBrowse link
G GLI2 GLI family zinc finger 2 ISO ClinVar Annotator: match by term: Arteriovenous malformations of the brain ClinVar PMID:25741868 NCBI chr15:30,312,528...30,580,272
Ensembl chr15:30,313,817...30,579,306 		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 chr13:38,935,631...39,006,721
Ensembl chr13:38,939,316...39,006,690 		JBrowse link
G IL6 interleukin 6 ISO OMIM NCBI chr 9:91,506,421...91,510,830
Ensembl chr 9:91,506,421...91,511,263 		JBrowse link
G KDR kinase insert domain receptor ISO protein:increased expression:endothelial cell: RGD PMID:11220380 RGD:8551824 NCBI chr 8:41,809,116...41,856,379
Ensembl chr 8:41,809,122...41,856,336 		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 chr 5:48,508,774...48,546,260
Ensembl chr 5:48,508,811...48,549,358 		JBrowse link
G LEMD3 LEM domain containing 3 ISO ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 NCBI chr 5:29,596,334...29,672,704
Ensembl chr 5:29,596,334...29,673,875 		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 chr 3:52,483,028...52,649,480
Ensembl chr 3:52,484,274...52,649,410 		JBrowse link
G NLRP3 NLR family pyrin domain containing 3 ISO ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar NCBI chr 2:56,892,241...56,977,412
Ensembl chr 2:56,892,243...56,977,228 		JBrowse link
G NOTCH4 notch receptor 4 ISO ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 PMID:27231971 NCBI chr 7:24,231,293...24,256,281
Ensembl chr 7:24,231,293...24,256,281 		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 chr13:106,517,408...106,558,959
Ensembl chr13:106,517,432...106,558,895 		JBrowse link
G PITPNM3 PITPNM family member 3 ISO ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 NCBI chr12:50,806,302...50,898,316
Ensembl chr12:50,742,773...50,898,331 		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 4:66,712,412...66,996,258
Ensembl chr 4:66,715,237...66,996,044 		JBrowse link
G SARS1 seryl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 NCBI chr 4:110,857,067...110,874,712
Ensembl chr 4:110,857,089...110,874,815 		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 chr 9:389,806...457,651 JBrowse link
G SYN3 synapsin III ISO ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 NCBI chr 5:12,017,741...12,501,995
Ensembl chr 5:12,473,793...12,500,076 		JBrowse link
G TIMP3 TIMP metallopeptidase inhibitor 3 ISO ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 NCBI chr 5:12,185,816...12,242,599
Ensembl chr 5:12,185,818...12,242,581 		JBrowse link
G VEGFA vascular endothelial growth factor A ISO RGD PMID:16388189 RGD:1580567 NCBI chr 7:38,746,393...38,762,282
Ensembl chr 7:38,746,052...38,761,366 		JBrowse link
G ZFYVE16 zinc finger FYVE-type containing 16 ISO ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 NCBI chr 2:89,044,860...89,109,237
Ensembl chr 2:89,045,362...89,106,975 		JBrowse link
Bannayan-Riley-Ruvalcaba syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EGFR epidermal growth factor receptor ISO ClinVar Annotator: match by term: Cowden syndrome 1 ClinVar NCBI chr 9:139,302,410...139,474,632
Ensembl chr 9:139,300,022...139,475,589 		JBrowse link
G KLLN killin, p53 regulated DNA replication inhibitor ISO ClinVar Annotator: match by term: Cowden syndrome 1 ClinVar PMID:2338203 PMID:12844284 PMID:16773562 PMID:17427195 PMID:21194675 More... NCBI chr14:99,923,996...99,928,887 JBrowse link
G PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha ISO ClinVar Annotator: match by term: Cowden syndrome 1 ClinVar PMID:15016963 PMID:15254419 PMID:15520168 PMID:15647370 PMID:15805248 More... NCBI chr13:117,193,935...117,282,151
Ensembl chr13:117,180,544...117,274,587 		JBrowse link
G PTEN phosphatase and tensin homolog ISO ClinVar Annotator: match by term: Bannayan-Riley-Ruvalcaba syndrome | ClinVar Annotator: match by term: Cowden syndrome 1 OMIM
ClinVar		 PMID:1097835 PMID:1336932 PMID:1945792 PMID:2333580 PMID:2338203 More... NCBI chr14:99,929,590...100,021,619 JBrowse link
G SDHB succinate dehydrogenase complex iron sulfur subunit B ISO ClinVar Annotator: match by term: Cowden syndrome 1 ClinVar PMID:19802898 PMID:20923864 PMID:21979946 PMID:23072324 PMID:23512077 More... NCBI chr 6:75,648,362...75,678,111
Ensembl chr 6:75,648,215...75,678,378 		JBrowse link
capillary hemangioma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AKT3 AKT serine/threonine kinase 3 ISO ClinVar Annotator: match by term: Capillary hemangioma ClinVar PMID:22729224 PMID:23745724 PMID:24705253 PMID:25741868 PMID:28492532 More... NCBI chr10:16,441,465...16,741,745
Ensembl chr10:16,441,447...16,741,337 		JBrowse link
G CCN1 cellular communication network factor 1 disease_progression ISO mRNA:increased expression:skin (human) RGD PMID:33587560 RGD:329845523 NCBI chr 4:130,392,404...130,395,179
Ensembl chr 4:130,392,407...130,395,150 		JBrowse link
G NPC1 NPC intracellular cholesterol transporter 1 ISO ClinVar Annotator: match by term: Capillary hemangioma ClinVar PMID:25741868 NCBI chr 6:108,403,126...108,450,486
Ensembl chr 6:108,402,879...108,450,990 		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:9536098 PMID:14639529 PMID:16199547 PMID:17576681 PMID:18363760 More... NCBI chr 2:94,980,938...95,019,053
Ensembl chr 2:94,980,941...95,018,634 		JBrowse link
G EPHB4 EPH receptor B4 ISO ClinVar Annotator: match by term: Capillary malformation-arteriovenous malformation syndrome ClinVar PMID:25741868 NCBI chr 3:8,671,052...8,689,778
Ensembl chr 3:8,668,859...8,689,783 		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:9536098 PMID:14639529 PMID:16199547 PMID:17576681 PMID:18363760 More... RGD:734495 NCBI chr 2:94,879,615...94,992,725
Ensembl chr 2:94,878,911...94,993,450 		JBrowse link
G STAMBP STAM binding protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:23542699 NCBI chr 3:69,156,012...69,188,256
Ensembl chr 3:69,133,978...69,188,192 		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:14639529 PMID:16199547 PMID:18363760 PMID:18446851 PMID:23164092 More... NCBI chr 2:94,980,938...95,019,053
Ensembl chr 2:94,980,941...95,018,634 		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 chr 5:48,508,774...48,546,260
Ensembl chr 5:48,508,811...48,549,358 		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:14639529 PMID:16199547 PMID:18363760 PMID:18446851 PMID:22200646 More... NCBI chr 2:94,879,615...94,992,725
Ensembl chr 2:94,878,911...94,993,450 		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 chr 3:8,671,052...8,689,778
Ensembl chr 3:8,668,859...8,689,783 		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 chr 3:8,696,593...8,712,904
Ensembl chr 3:8,697,439...8,712,918 		JBrowse link
cavernous hemangioma 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: Cavernous hemangioma ClinVar PMID:25741868 NCBI chr18:50,396,423...50,450,442
Ensembl chr18:50,396,424...50,450,132 		JBrowse link
G KRIT1 KRIT1 ankyrin repeat containing ISO ClinVar Annotator: match by term: Cavernous hemangioma ClinVar PMID:10508515 PMID:10545614 PMID:11222804 PMID:12404106 PMID:23595507 More... NCBI chr 9:72,143,652...72,184,774
Ensembl chr 9:72,142,835...72,185,661 		JBrowse link
G PDCD10 programmed cell death 10 ISO ClinVar Annotator: match by term: Cavernous hemangioma ClinVar PMID:9536098 PMID:16329096 PMID:17576681 PMID:24466005 PMID:25122144 More... NCBI chr13:106,517,408...106,558,959
Ensembl chr13:106,517,432...106,558,895 		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 2:94,980,938...95,019,053
Ensembl chr 2:94,980,941...95,018,634 		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 2:94,879,615...94,992,725
Ensembl chr 2:94,878,911...94,993,450 		JBrowse link
cerebellar angioblastoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G VHL von Hippel-Lindau tumor suppressor ISO ClinVar Annotator: match by term: Cerebellar hemangioblastoma ClinVar PMID:7728151 PMID:7987306 PMID:10567493 PMID:12114495 PMID:15611064 More... NCBI chr13:66,334,535...66,342,401
Ensembl chr13:66,334,591...66,342,654 		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 NCBI chr 9:71,895,615...72,054,898
Ensembl chr 9:71,895,635...72,054,897 		JBrowse link
G ANKIB1 ankyrin repeat and IBR domain containing 1 ISO ClinVar Annotator: match by term: Cerebral cavernous malformation ClinVar PMID:25741868 NCBI chr 9:72,184,805...72,328,765
Ensembl chr 9:72,184,815...72,328,763 		JBrowse link
G CCM2 CCM2 scaffold protein ISO ClinVar Annotator: match by term: Cerebral cavernous malformation ClinVar PMID:25525273 PMID:25741868 PMID:28492532 NCBI chr18:50,396,423...50,450,442
Ensembl chr18:50,396,424...50,450,132 		JBrowse link
G CYP51A1 cytochrome P450 family 51 subfamily A member 1 ISO ClinVar Annotator: match by term: Cerebral cavernous malformation ClinVar NCBI chr 9:72,057,506...72,079,587
Ensembl chr 9:72,057,511...72,079,444 		JBrowse link
G FLT1 fms related receptor tyrosine kinase 1 ISO protein:increased expression:endothelial cell: RGD PMID:11220380 RGD:8551824 NCBI chr11:5,620,698...5,797,095
Ensembl chr11:5,621,212...5,795,264 		JBrowse link
G KDR kinase insert domain receptor ISO protein:increased expression:endothelial cell: RGD PMID:11220380 RGD:8551824 NCBI chr 8:41,809,116...41,856,379
Ensembl chr 8:41,809,122...41,856,336 		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 chr 9:72,143,652...72,184,774
Ensembl chr 9:72,142,835...72,185,661 		JBrowse link
G LRRD1 leucine rich repeats and death domain containing 1 ISO ClinVar Annotator: match by term: Cerebral cavernous malformation ClinVar NCBI chr 9:72,094,221...72,142,939
Ensembl chr 9:72,094,065...72,140,882 		JBrowse link
G NOTCH3 notch receptor 3 ISO ClinVar Annotator: match by term: Cerebral cavernous malformation ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:62,364,507...62,402,348
Ensembl chr 2:62,364,501...62,402,344 		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 chr13:106,517,408...106,558,959
Ensembl chr13:106,517,432...106,558,895 		JBrowse link
G PON1 paraoxonase 1 susceptibility ISO DNA:missense mutations:cds:p.L55M, p.Q192R (human) RGD PMID:26122242 RGD:11552573 NCBI chr 9:74,943,646...74,974,720
Ensembl chr 9:74,926,048...74,974,723 		JBrowse link
G PTEN phosphatase and tensin homolog ISO protein:decreased expression:brain (human) RGD PMID:19061355 RGD:12859036 NCBI chr14:99,929,590...100,021,619 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 chr13:106,559,326...106,636,930
Ensembl chr13:106,559,736...106,658,110 		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: Cerebral cavernous malformations 1 | ClinVar Annotator: match by term: KRIT1-Related Disorders OMIM
ClinVar		 PMID:3393196 PMID:7898703 PMID:9065560 PMID:10508515 PMID:10545614 More... NCBI chr 9:72,143,652...72,184,774
Ensembl chr 9:72,142,835...72,185,661 		JBrowse link
G PDCD10 programmed cell death 10 ISO ClinVar Annotator: match by term: Cerebral cavernous malformation 1 ClinVar PMID:25741868 NCBI chr13:106,517,408...106,558,959
Ensembl chr13:106,517,432...106,558,895 		JBrowse link
G PTGIS prostaglandin I2 synthase exacerbates ISO DNA:silent mutation:CDS:p.L256L (rs5628) (human) RGD PMID:26795600 RGD:401960081 NCBI chr17:51,153,151...51,200,515
Ensembl chr17:51,153,154...51,200,300 		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 chr18:50,396,423...50,450,442
Ensembl chr18:50,396,424...50,450,132 		JBrowse link
G NACAD NAC alpha domain containing ISO ClinVar Annotator: match by term: Cerebral cavernous malformation 2 ClinVar PMID:17160895 PMID:28492532 NCBI chr18:50,385,116...50,394,787 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 onset
exacerbates		 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 chr13:106,517,408...106,558,959
Ensembl chr13:106,517,432...106,558,895 		JBrowse link
G SERPINI1 serpin family I member 1 ISO ClinVar Annotator: match by term: Cerebral cavernous malformation 3 ClinVar NCBI chr13:106,559,326...106,636,930
Ensembl chr13:106,559,736...106,658,110 		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 chr13:117,193,935...117,282,151
Ensembl chr13:117,180,544...117,274,587 		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 chr 1:230,341,947...230,545,123
Ensembl chr 1:230,341,942...230,546,120 		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 chr13:117,193,935...117,282,151
Ensembl chr13:117,180,544...117,274,587 		JBrowse link
Familial Cerebral Cavernous Malformation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACE angiotensin I converting enzyme (peptidyl-dipeptidase A) 1 ISO DNA:deletion:intron:IVS16+1464-1751del (human) RGD PMID:20488708 RGD:11039024 NCBI chr12:15,394,487...15,414,609
Ensembl chr12:15,394,487...15,414,703 		JBrowse link
G CAND2 cullin associated and neddylation dissociated 2 (putative) ISO RGD PMID:31426861 RGD:18899564 NCBI chr13:68,758,739...68,787,200
Ensembl chr13:68,758,734...68,787,192 		JBrowse link
hemangioblastoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CXCR4 C-X-C motif chemokine receptor 4 ISO mRNA,protein:increased expression:temporal lobe : RGD PMID:27388534 RGD:155641257 NCBI chr15:15,663,652...15,666,706
Ensembl chr15:15,663,494...15,667,232 		JBrowse link
G DLL4 delta like canonical Notch ligand 4 ISO mRNA,protein:increased expression:temporal lobe : RGD PMID:27388534 RGD:155641257 NCBI chr 1:130,376,720...130,386,411
Ensembl chr 1:130,376,721...130,386,411 		JBrowse link
G HEY1 hes related family bHLH transcription factor with YRPW motif 1 ISO mRNA,protein:increased expression:temporal lobe : RGD PMID:27388534 RGD:155641257 NCBI chr 4:56,859,640...56,863,807
Ensembl chr 4:56,859,663...56,863,788 		JBrowse link
G HIF1A hypoxia inducible factor 1 subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:15341671 NCBI chr 1:190,625,436...190,673,926
Ensembl chr 1:190,625,244...190,674,845 		JBrowse link
G NDRG1 N-myc downstream regulated 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15341671 NCBI chr 4:8,014,445...8,069,335
Ensembl chr 4:8,014,446...8,069,335 		JBrowse link
G NOTCH4 notch receptor 4 ISO mRNA,protein:increased expression:temporal lobe : RGD PMID:27388534 RGD:155641257 NCBI chr 7:24,231,293...24,256,281
Ensembl chr 7:24,231,293...24,256,281 		JBrowse link
hemangioma of liver 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: Hepatic hemangioma ClinVar PMID:33912852 NCBI chr 6:91,045,430...91,048,161
Ensembl chr 6:91,045,394...91,048,162 		JBrowse link
Infantile Capillary Hemangioma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANTXR1 ANTXR cell adhesion molecule 1 susceptibility ISO ClinVar Annotator: match by term: Capillary infantile hemangioma ClinVar
OMIM		 PMID:18931684 PMID:25741868 PMID:28492532 NCBI chr 3:73,157,744...73,398,379
Ensembl chr 3:73,157,747...73,398,379 		JBrowse link
G CCNH cyclin H ISO ClinVar Annotator: match by term: Capillary infantile hemangioma ClinVar PMID:25741868 NCBI chr 2:94,980,938...95,019,053
Ensembl chr 2:94,980,941...95,018,634 		JBrowse link
G FAT4 FAT atypical cadherin 4 ISO ClinVar Annotator: match by term: Capillary infantile hemangioma ClinVar PMID:25741868 PMID:28492532 NCBI chr 8:99,141,967...99,312,131
Ensembl chr 8:99,148,496...99,310,519 		JBrowse link
G FLT4 fms related receptor tyrosine kinase 4 ISO ClinVar Annotator: match by term: Capillary infantile hemangioma OMIM
ClinVar		 PMID:11807987 PMID:25741868 PMID:28492532 NCBI chr 2:78,076,008...78,115,137
Ensembl chr 2:78,076,080...78,115,126 		JBrowse link
G KDR kinase insert domain receptor susceptibility ISO ClinVar Annotator: match by term: Capillary infantile hemangioma ClinVar
OMIM		 PMID:11807987 PMID:18931684 PMID:24033266 PMID:24728327 PMID:25741868 NCBI chr 8:41,809,116...41,856,379
Ensembl chr 8:41,809,122...41,856,336 		JBrowse link
G MYH9 myosin heavy chain 9 ISO ClinVar Annotator: match by term: Capillary infantile hemangioma ClinVar PMID:28492532 NCBI chr 5:11,365,603...11,456,475
Ensembl chr 5:11,360,660...11,456,472 		JBrowse link
G RASA1 RAS p21 protein activator 1 ISO ClinVar Annotator: match by term: Capillary infantile hemangioma ClinVar PMID:25741868 NCBI chr 2:94,879,615...94,992,725
Ensembl chr 2:94,878,911...94,993,450 		JBrowse link
G SLC2A1 solute carrier family 2 member 1 ISO RGD PMID:17554865 RGD:12879502 NCBI chr 6:168,535,398...168,561,170
Ensembl chr 6:168,535,440...168,560,867 		JBrowse link
G VEGFA vascular endothelial growth factor A disease_progression ISO RGD PMID:26957058 RGD:155663370 NCBI chr 7:38,746,393...38,762,282
Ensembl chr 7:38,746,052...38,761,366 		JBrowse link
Kaposiform Hemangioendothelioma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FGF2 fibroblast growth factor 2 ISO RGD PMID:14517397 RGD:8655667 NCBI chr 8:101,278,877...101,344,084
Ensembl chr 8:101,278,885...101,343,916 		JBrowse link
G GNA14 G protein subunit alpha 14 ISO ClinVar Annotator: match by term: Kaposiform hemangioendothelioma ClinVar PMID:25741868 PMID:27476652 NCBI chr 1:230,341,947...230,545,123
Ensembl chr 1:230,341,942...230,546,120 		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 chr 3:69,156,012...69,188,256
Ensembl chr 3:69,133,978...69,188,192 		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 chr 6:91,045,430...91,048,161
Ensembl chr 6:91,045,394...91,048,162 		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 chr 1:195,938,177...196,052,294
Ensembl chr 1:195,937,432...196,051,980 		JBrowse link
pulmonary venoocclusive disease 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BMPR2 bone morphogenetic protein receptor type 2 ISO ClinVar Annotator: match by term: Familial pulmonary capillary hemangiomatosis ClinVar PMID:18626305 PMID:24292273 NCBI chr15:105,971,577...106,132,496
Ensembl chr15:105,970,428...106,135,730 		JBrowse link
G EIF2AK4 eukaryotic translation initiation factor 2 alpha kinase 4 ISO ClinVar Annotator: match by term: EIF2AK4-related condition | ClinVar Annotator: match by term: Familial pulmonary capillary hemangiomatosis OMIM
ClinVar		 PMID:12215525 PMID:24033266 PMID:24135949 PMID:24292273 PMID:24310610 More... NCBI chr 1:131,244,818...131,355,240
Ensembl chr 1:131,245,466...131,355,226 		JBrowse link
skin hemangioma 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: Skin hemangioma ClinVar PMID:33912852 NCBI chr 6:91,045,430...91,048,161
Ensembl chr 6:91,045,394...91,048,162 		JBrowse link
Sturge-Weber syndrome 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: Parkes Weber syndrome ClinVar PMID:24038909 PMID:25741868 PMID:27081547 PMID:28492532 PMID:28655553 More... NCBI chr 2:94,980,938...95,019,053
Ensembl chr 2:94,980,941...95,018,634 		JBrowse link
G FN1 fibronectin 1 ISO mRNA, protein:increased expression:cerebral cortex RGD PMID:12621118 RGD:1358624 NCBI chr15:117,658,158...117,737,145
Ensembl chr15:117,658,099...117,731,014 		JBrowse link
G GNAQ G protein subunit alpha q ISO ClinVar Annotator: match by term: Sturge-Weber syndrome OMIM
ClinVar		 PMID:1328859 PMID:2549426 PMID:18719078 PMID:19078957 PMID:21083380 More... NCBI chr 1:230,607,469...230,906,988
Ensembl chr 1:230,605,265...230,907,674 		JBrowse link
G MAP2K1 mitogen-activated protein kinase kinase 1 ISO ClinVar Annotator: match by term: Parkes Weber syndrome ClinVar PMID:25741868 NCBI chr 1:164,381,892...164,469,313
Ensembl chr 1:164,381,845...164,471,226 		JBrowse link
G MMP2 matrix metallopeptidase 2 severity ISO protein:increased expression:urine RGD PMID:23720035 RGD:13204823 NCBI chr 6:30,059,247...30,087,031
Ensembl chr 6:30,058,595...30,086,982 		JBrowse link
G MMP9 matrix metallopeptidase 9 severity ISO protein:increased expression:urine RGD PMID:23720035 RGD:13204823 NCBI chr17:48,179,690...48,186,782
Ensembl chr17:48,179,671...48,186,788 		JBrowse link
G RASA1 RAS p21 protein activator 1 ISO ClinVar Annotator: match by term: Parkes Weber syndrome ClinVar PMID:22200646 PMID:23801933 PMID:24038909 PMID:25741868 PMID:27081547 More... NCBI chr 2:94,879,615...94,992,725
Ensembl chr 2:94,878,911...94,993,450 		JBrowse link
Supraumbilical Midabdominal Raphe and Facial Cavernous Hemangiomas term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MACF1 microtubule actin crosslinking factor 1 ISO ClinVar Annotator: match by term: Facial hemangioma ClinVar PMID:31474318 NCBI chr 6:94,960,385...95,318,126
Ensembl chr 6:95,153,005...95,301,618 		JBrowse link
Tufted Angioma 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: Tufted angioma ClinVar PMID:25741868 NCBI chr 1:230,341,947...230,545,123
Ensembl chr 1:230,341,942...230,546,120 		JBrowse link
G KDR kinase insert domain receptor ISO ClinVar Annotator: match by term: Tufted angioma ClinVar PMID:25741868 PMID:26422291 PMID:28492532 NCBI chr 8:41,809,116...41,856,379
Ensembl chr 8:41,809,122...41,856,336 		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 chr13:200,121,796...200,201,712
Ensembl chr13:200,128,477...200,145,525 		JBrowse link
G EPHB4 EPH receptor B4 ISO ClinVar Annotator: match by term: Galen vein aneurysm ClinVar PMID:30578106 NCBI chr 3:8,671,052...8,689,778
Ensembl chr 3:8,668,859...8,689,783 		JBrowse link
G KAT6A lysine acetyltransferase 6A ISO ClinVar Annotator: match by term: Galen vein aneurysm ClinVar PMID:30578106 NCBI chr17:11,002,818...11,109,974 JBrowse link
G KEL Kell metallo-endopeptidase ISO ClinVar Annotator: match by term: Galen vein aneurysm ClinVar PMID:30578106 NCBI chr18:7,242,378...7,279,345
Ensembl chr18:7,259,144...7,279,328 		JBrowse link
G KMT2D lysine methyltransferase 2D ISO ClinVar Annotator: match by term: Galen vein aneurysm ClinVar PMID:28492532 PMID:30578106 NCBI chr 5:15,049,827...15,091,622 JBrowse link
G SMARCA2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 ISO ClinVar Annotator: match by term: Galen vein aneurysm ClinVar PMID:30578106 NCBI chr 1:219,624,773...219,815,438
Ensembl chr 1:219,573,535...219,815,421 		JBrowse link
verrucous keratotic hemangioma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MAP3K3 mitogen-activated protein kinase kinase kinase 3 ISO ClinVar Annotator: match by term: Verrucous venous malformation ClinVar PMID:25741868 NCBI chr12:15,228,979...15,298,784
Ensembl chr12:15,230,182...15,298,784 		JBrowse link
von Hippel-Lindau disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BRK1 BRICK1 subunit of SCAR/WAVE actin nucleating complex ISO ClinVar Annotator: match by term: Von Hippel-Lindau syndrome ClinVar PMID:25741868 NCBI chr13:66,315,438...66,324,641
Ensembl chr13:66,315,315...66,324,641 		JBrowse link
G CCND1 cyclin D1 susceptibility ISO ClinVar Annotator: match by term: VON HIPPEL-LINDAU SYNDROME, MODIFIER OF OMIM
ClinVar		 PMID:10667569 PMID:11459873 PMID:12097293 PMID:23502783 PMID:24870244 More... NCBI chr 2:3,621,242...3,633,380
Ensembl chr 2:3,621,246...3,633,296 		JBrowse link
G EPAS1 endothelial PAS domain protein 1 ISO protein:increased expression:kidney: RGD PMID:22299048 RGD:11041600 NCBI chr 3:94,167,759...94,253,662
Ensembl chr 3:94,165,816...94,254,079 		JBrowse link
G IRAK2 interleukin 1 receptor associated kinase 2 ISO ClinVar Annotator: match by term: Von Hippel-Lindau syndrome ClinVar PMID:25741868 NCBI chr13:66,350,606...66,416,834
Ensembl chr13:66,350,606...66,416,827 		JBrowse link
G MMP3 matrix metallopeptidase 3 onset ISO RGD PMID:19551141 RGD:7241233 NCBI chr 9:33,446,969...33,453,995
Ensembl chr 9:33,446,836...33,454,000 		JBrowse link
G SDHB succinate dehydrogenase complex iron sulfur subunit B ISO ClinVar Annotator: match by term: Von Hippel-Lindau syndrome ClinVar PMID:9509062 PMID:11404820 PMID:12618761 PMID:16314641 PMID:16317055 More... NCBI chr 6:75,648,362...75,678,111
Ensembl chr 6:75,648,215...75,678,378 		JBrowse link
G SLC18A1 solute carrier family 18 member A1 ISO mRNA:increased expression:tumor (human) RGD PMID:16189177 RGD:5131200 NCBI chr14:4,243,553...4,279,341
Ensembl chr14:4,243,557...4,275,243 		JBrowse link
G VHL von Hippel-Lindau tumor suppressor ISO ClinVar Annotator: match by term: VHL syndrome | ClinVar Annotator: match by term: Von Hippel-Lindau | ClinVar Annotator: match by term: Von Hippel-Lindau syndrome OMIM
ClinVar		 PMID:982991 PMID:1056348 PMID:2362675 PMID:2844285 PMID:7553625 More... NCBI chr13:66,334,535...66,342,401
Ensembl chr13:66,334,591...66,342,654 		JBrowse link
Worster-Drought Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TMTC4 transmembrane O-mannosyltransferase targeting cadherins 4 ISO ClinVar Annotator: match by term: Worster-Drought syndrome ClinVar PMID:24375697 NCBI chr11:69,361,219...69,442,769
Ensembl chr11:69,361,229...69,443,039 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17412
    disease of cellular proliferation 7152
      Neoplasms by Histologic Type 4983
        cell type benign neoplasm 1871
          hemangioma 113
            Bannayan-Riley-Ruvalcaba syndrome 5
            Central Nervous System Venous Angioma 2
            Cutaneous Hemangiomatosis with Associated Features 0
            Disseminated Hemangiomatosis 0
            Hemangioendothelioma + 2
            Hemangiomas of Small Intestine 0
            Hereditary Neurocutaneous Angioma 0
            Kasabach-Merritt Syndrome + 2
            Littoral Cell Angioma of the Spleen 0
            Pascual Castroviejo Syndrome 0
            Spinal Arterial Venous Malformations with Cutaneous Hemangiomas 0
            Sturge-Weber syndrome + 8
            Tufted Angioma 2
            acquired hemangioma 0
            arteriovenous malformation + 60
            breast hemangioma + 0
            capillary hemangioma + 28
            cavernous hemangioma + 19
            central nervous system hemangioma + 19
            deep angioma + 0
            glomeruloid hemangioma 0
            hemangioblastoma + 14
            hemangioma of intra-abdominal structure + 1
            hemangioma of lung + 0
            hemangioma of orbit 0
            hemangioma of peripheral nerve 0
            histiocytoid hemangioma + 0
            hobnail hemangioma 0
            intracranial structure hemangioma + 0
            rapidly involuting congenital hemangioma 0
            sclerosing hemangioma + 0
            skin hemangioma + 32
            spindle cell hemangioma 0
            subglottic angioma 0
            venous hemangioma 0
Path 2
Term Annotations click to browse term
  disease 17412
    disease of cellular proliferation 7152
      Neoplasms by Site 6635
        organ system benign neoplasm 1240
          cardiovascular organ benign neoplasm 128
            hemangioma 113
              Bannayan-Riley-Ruvalcaba syndrome 5
              Central Nervous System Venous Angioma 2
              Cutaneous Hemangiomatosis with Associated Features 0
              Disseminated Hemangiomatosis 0
              Hemangioendothelioma + 2
              Hemangiomas of Small Intestine 0
              Hereditary Neurocutaneous Angioma 0
              Kasabach-Merritt Syndrome + 2
              Littoral Cell Angioma of the Spleen 0
              Pascual Castroviejo Syndrome 0
              Spinal Arterial Venous Malformations with Cutaneous Hemangiomas 0
              Sturge-Weber syndrome + 8
              Tufted Angioma 2
              acquired hemangioma 0
              arteriovenous malformation + 60
              breast hemangioma + 0
              capillary hemangioma + 28
              cavernous hemangioma + 19
              central nervous system hemangioma + 19
              deep angioma + 0
              glomeruloid hemangioma 0
              hemangioblastoma + 14
              hemangioma of intra-abdominal structure + 1
              hemangioma of lung + 0
              hemangioma of orbit 0
              hemangioma of peripheral nerve 0
              histiocytoid hemangioma + 0
              hobnail hemangioma 0
              intracranial structure hemangioma + 0
              rapidly involuting congenital hemangioma 0
              sclerosing hemangioma + 0
              skin hemangioma + 32
              spindle cell hemangioma 0
              subglottic angioma 0
              venous hemangioma 0
paths to the root