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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:cardiovascular organ benign neoplasm
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Accession:DOID:0060091 term browser browse the term
Definition:An organ system benign neoplasm disease located_in the blood, heart, blood vessels or the lymphatic system. (DO)



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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 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha ISO ClinVar Annotator: match by term: Arteriovenous malformation ClinVar NCBI chr13:117,193,935...117,282,151
Ensembl chr13:117,180,544...117,274,587
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 ClinVar
OMIM
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:9219684 PMID:9536098 PMID:14639529 PMID:15574420 PMID:16199547 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:9219684 PMID:9536098 PMID:14639529 PMID:15574420 PMID:16199547 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:9219684 PMID:14639529 PMID:15574420 PMID:16199547 PMID:18363760 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 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha ISO ClinVar Annotator: match by term: Capillary malformation-arteriovenous malformation 1 ClinVar NCBI chr13:117,193,935...117,282,151
Ensembl chr13:117,180,544...117,274,587
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 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 PMID:10508515 PMID:11222804 PMID:12404106 PMID:17187287 PMID:17211633 More... 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 PMID:10508515 PMID:11222804 PMID:12404106 PMID:17187287 PMID:17211633 More... 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 PMID:10508515 PMID:11222804 PMID:12404106 PMID:17187287 PMID:17211633 More... NCBI chr 9:72,094,221...72,142,939
Ensembl chr 9:72,094,065...72,140,882
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 chr 9:71,287,587...71,853,866
Ensembl chr 9:71,845,662...71,853,845
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: 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 PMID:15543491 PMID:18300272 PMID:23801932 PMID:25741868 PMID:28492532 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
choroid plexus papilloma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TP53 tumor protein p53 ISO ClinVar Annotator: match by term: Choroid plexus papilloma | ClinVar Annotator: match by term: Papilloma of choroid plexus ClinVar
OMIM
PMID:1565143 PMID:1565144 PMID:1591732 PMID:1631137 PMID:1683921 More... NCBI chr12:52,939,643...52,953,786
Ensembl chr12:52,939,644...52,953,818
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
colon adenoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AXIN2 axin 2 ISO protein:increased expression:: RGD PMID:11809809 RGD:151356508 NCBI chr12:12,311,293...12,343,207
Ensembl chr12:12,311,298...12,343,200
JBrowse link
G CACNA1D calcium voltage-gated channel subunit alpha1 D ISO protein:increased expression:colon (human) RGD PMID:29079724 RGD:152177516 NCBI chr13:35,568,534...35,911,483
Ensembl chr13:35,436,519...35,909,662
JBrowse link
G CCND1 cyclin D1 severity ISO RGD PMID:11375949 RGD:151665121 NCBI chr 2:3,621,242...3,633,380
Ensembl chr 2:3,621,246...3,633,296
JBrowse link
G CCND2 cyclin D2 severity ISO RGD PMID:11375949 RGD:151665121 NCBI chr 5:66,092,483...66,114,575
Ensembl chr 5:66,087,379...66,114,571
JBrowse link
G CHKA choline kinase alpha ISO protein:increased expression:colonic mucosa (human) RGD PMID:10363580 RGD:10401945 NCBI chr 2:4,788,508...4,846,667
Ensembl chr 2:4,788,213...4,846,665
JBrowse link
G IGF2BP1 insulin like growth factor 2 mRNA binding protein 1 ISO RGD PMID:26194191 RGD:11086893 NCBI chr12:25,196,955...25,244,660
Ensembl chr12:25,197,058...25,243,272
JBrowse link
G RAC1 Rac family small GTPase 1 ISO RGD PMID:12865273 RGD:13432048 NCBI chr 3:4,781,776...4,803,510
Ensembl chr 3:4,781,780...4,803,543
JBrowse link
G RBP4 retinol binding protein 4 ISO protein:increased expression:blood serum (human) RGD PMID:25712946 RGD:329849123 NCBI chr14:105,037,360...105,044,552
Ensembl chr14:105,037,464...105,044,765
JBrowse link
G TET2 tet methylcytosine dioxygenase 2 ISO mRNA:decreased expression:colon (human) RGD PMID:29875879 RGD:150429665 NCBI chr 8:116,413,253...116,546,976
Ensembl chr 8:116,415,267...116,545,299
JBrowse link
cystic lymphangioma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL11A2 collagen type XI alpha 2 chain ISO ClinVar Annotator: match by term: Cystic hygroma ClinVar PMID:10677296 PMID:21204229 PMID:22246659 PMID:24033266 PMID:25741868 More... NCBI chr 7:25,204,496...25,234,880
Ensembl chr 7:25,204,497...25,234,888
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
familial glomangioma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GLMN glomulin, FKBP associated protein ISO ClinVar Annotator: match by term: Familial glomangioma ClinVar PMID:11175297 PMID:11845407 PMID:15689436 PMID:23801931 PMID:24033266 More... NCBI chr 4:124,773,957...124,813,336
Ensembl chr 4:124,773,980...124,813,335
JBrowse link
glomangioma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GLMN glomulin, FKBP associated protein ISO ClinVar Annotator: match by term: Glomuvenous malformation | ClinVar Annotator: match by term: Glomuvenous malformations OMIM
ClinVar
PMID:11175297 PMID:11845407 PMID:15689436 PMID:23375657 PMID:23801931 More... NCBI chr 4:124,773,957...124,813,336
Ensembl chr 4:124,773,980...124,813,335
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 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
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 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 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
lymphangioma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BRAF B-Raf proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: Lymphangioma 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 FLT4 fms related receptor tyrosine kinase 4 ISO protein:increased expression:;lymphatic endothelial cell: RGD PMID:17584927 RGD:8552338 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 ISO protein:increased expression:;lymphatic endothelial cell: RGD PMID:17584927 RGD:8552338 NCBI chr 8:41,809,116...41,856,379
Ensembl chr 8:41,809,122...41,856,336
JBrowse link
G PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha ISO ClinVar Annotator: match by term: Cavernous lymphangioma 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
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
Nuchal Bleb, Familial term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CFTR CF transmembrane conductance regulator ISO ClinVar Annotator: match by term: Fetal cystic hygroma ClinVar PMID:1695717 PMID:7683952 PMID:7691345 PMID:9239681 PMID:9725922 More... NCBI chr18:28,627,717...28,818,209
Ensembl chr18:28,627,728...28,817,950
JBrowse link
G LZTR1 leucine zipper like post translational regulator 1 ISO ClinVar Annotator: match by term: Fetal cystic hygroma ClinVar PMID:25741868 PMID:25795793 PMID:28492532 PMID:30368668 PMID:30442762 More... NCBI chr14:50,576,413...50,590,397
Ensembl chr14:50,576,624...50,590,397
JBrowse link
G SOS1 SOS Ras/Rac guanine nucleotide exchange factor 1 ISO ClinVar Annotator: match by term: Nuchal bleb, familial ClinVar PMID:17143285 PMID:17586837 PMID:20186801 PMID:21387466 PMID:22494877 More... NCBI chr 3:101,209,568...101,366,057
Ensembl chr 3:101,209,641...101,362,723
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
sigmoid neoplasm term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G APC APC regulator of WNT signaling pathway ISO ClinVar Annotator: match by term: Sigmoid colon cancer ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:116,913,354...116,985,303
Ensembl chr 2:116,812,582...117,034,887
JBrowse link
G MSH2 mutS homolog 2 ISO ClinVar Annotator: match by term: Sigmoid colon cancer ClinVar PMID:10495924 PMID:12658575 PMID:15849733 PMID:17312306 PMID:18566915 More... NCBI chr 3:93,082,958...93,163,556
Ensembl chr 3:93,081,219...93,163,585
JBrowse link
G MSH6 mutS homolog 6 ISO ClinVar Annotator: match by term: Sigmoid colon cancer ClinVar PMID:9354786 PMID:12376507 PMID:18809606 PMID:19924528 PMID:20176959 More... NCBI chr 3:92,792,590...92,814,154
Ensembl chr 3:92,785,664...92,814,238
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 ISO ClinVar Annotator: match by term: VON HIPPEL-LINDAU SYNDROME, MODIFIER OF ClinVar
OMIM
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:4843792 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 15353
    disease of anatomical entity 15046
      cardiovascular system disease 4435
        cardiovascular organ benign neoplasm 129
          Cardiac Rhabdomyoma 0
          benign pericardial teratoma 0
          benign perivascular tumor + 1
          benign vascular tumor + 20
          cardiac granular cell neoplasm 0
          cerebrovascular benign neoplasm + 1
          heart lipoma + 0
          hemangioma + 114
          pericardium leiomyoma 0
Path 2
Term Annotations click to browse term
  disease 15353
    disease of cellular proliferation 7271
      benign neoplasm 2121
        organ system benign neoplasm 1235
          cardiovascular organ benign neoplasm 129
            Cardiac Rhabdomyoma 0
            benign pericardial teratoma 0
            benign perivascular tumor + 1
            benign vascular tumor + 20
            cardiac granular cell neoplasm 0
            cerebrovascular benign neoplasm + 1
            heart lipoma + 0
            hemangioma + 114
            pericardium leiomyoma 0
paths to the root