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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:Vascular Tissue Neoplasms
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Accession:DOID:9006948 term browser browse the term
Definition:Neoplasms composed of vascular tissue. This concept does not refer to neoplasms located in blood vessels.
Synonyms:exact_synonym: blood vessel neoplasm;   blood vessel tumor;   blood vessel tumors;   blood vessel tumour disorder;   haemangiomatous tumour;   neoplasm of great vessel;   vascular tissue neoplasm;   vascular tumors
 primary_id: MESH:D009383
 alt_id: RDO:0004851
For additional species annotation, visit the Alliance of Genome Resources.


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AIDS-Related Kaposi Sarcoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BCL2 BCL2 apoptosis regulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:10861090 NCBI chr 1:158,337,403...158,518,214
Ensembl chr 1:158,288,544...158,518,879
JBrowse link
Angiofibroma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MEN1 menin 1 ISO ClinVar Annotator: match by term: Angiofibroma, somatic ClinVar PMID:9236523 PMID:9740255 NCBI chr 2:7,358,130...7,364,952
Ensembl chr 2:7,357,951...7,365,128
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...83,032,284
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 5:6,571,037...6,590,546
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 9:72,184,818...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 JBrowse link
angiomyolipoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G OGG1 8-oxoguanine DNA glycosylase no_association ISO associated with Tuberous Sclerosis;DNA:missense mutations: :p.R45Q, p.A85S, p.R229Q (human)
associated with Tuberous Sclerosis;DNA:SNP: :p.S326C (rs1052133)(human)
associated with Tuberous Sclerosis;mRNA, protein:decreased expression:kidney
RGD PMID:17932460 PMID:19265534 RGD:8657154 RGD:8657155 NCBI chr13:66,038,669...66,045,478 JBrowse link
G PTEN phosphatase and tensin homolog ISO protein:increased expression:kidney (human) RGD PMID:22737271 RGD:12802360 NCBI chr14:99,929,590...100,021,619 JBrowse link
G STAT1 signal transducer and activator of transcription 1 ISO protein:increased serine phosphorylation:kidney RGD PMID:15994429 RGD:2298537 NCBI chr15:95,593,201...95,646,324
Ensembl chr15:95,593,211...95,646,260
JBrowse link
G STAT3 signal transducer and activator of transcription 3 ISO protein:increased tyrosine phosphorylation:kidney RGD PMID:15994429 RGD:2298537 NCBI chr12:20,407,316...20,471,091
Ensembl chr12:20,407,233...20,472,993
JBrowse link
G TSC2 TSC complex subunit 2 ISO associated with Tuberous Sclerosis;protein:decreased expression, increased threonine phosphorylation:kidney RGD PMID:19265534 RGD:8657154 NCBI chr 3:39,898,924...39,935,579
Ensembl chr 3:39,898,922...39,937,371
JBrowse link
angiosarcoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANGPT2 angiopoietin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17569031 NCBI chr15:37,544,177...37,600,925
Ensembl chr15:37,544,707...37,599,041
JBrowse link
G CCND1 cyclin D1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17569031 NCBI chr 2:3,621,242...3,633,380
Ensembl chr 2:3,621,246...3,633,296
JBrowse link
G COL18A1 collagen type XVIII alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:17569031 NCBI chr13:207,907,835...207,984,082
Ensembl chr13:207,907,857...207,985,181
JBrowse link
G CSF3 colony stimulating factor 3 ISO CTD Direct Evidence: therapeutic CTD PMID:9774950 NCBI chr12:22,333,445...22,335,949
Ensembl chr12:22,333,445...22,342,163
JBrowse link
G CTNNB1 catenin beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:13678655 NCBI chr13:25,163,550...25,208,314
Ensembl chr13:25,137,173...25,208,311
JBrowse link
G FLT1 fms related receptor tyrosine kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17569031 NCBI chr11:5,620,698...5,797,095
Ensembl chr11:5,620,700...5,795,264
JBrowse link
G GJA4 gap junction protein alpha 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17569031 NCBI chr 6:91,045,430...91,048,161
Ensembl chr 6:91,045,393...91,048,165
JBrowse link
G HRAS HRas proto-oncogene, GTPase ISO CTD Direct Evidence: marker/mechanism CTD PMID:10930038 NCBI chr 2:299,662...302,539
Ensembl chr 2:299,660...302,501
JBrowse link
G JUN Jun proto-oncogene, AP-1 transcription factor subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:17569031 NCBI chr 6:153,686,425...153,687,635 JBrowse link
G KDR kinase insert domain receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:17569031 NCBI chr 8:41,809,116...41,856,379
Ensembl chr 8:41,809,116...41,856,339
JBrowse link
G KRAS KRAS proto-oncogene, GTPase ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Angiosarcoma
CTD
ClinVar
PMID:8456858 PMID:10930038 PMID:12211074 PMID:13678655 PMID:20737008 PMID:24740626 PMID:25157968 PMID:25808193 NCBI chr 5:48,508,774...48,546,260
Ensembl chr 5:48,508,790...48,549,346
JBrowse link
G MED12 mediator complex subunit 12 ISO ClinVar Annotator: match by term: Angiosarcoma ClinVar PMID:26822237 NCBI chr  X:57,150,884...57,174,367
Ensembl chr  X:57,150,578...57,175,352
JBrowse link
G MYC MYC proto-oncogene, bHLH transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:17569031 NCBI chr 4:12,455,141...12,460,360
Ensembl chr 4:12,455,119...12,461,078
JBrowse link
G PLCG1 phospholipase C gamma 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24633157 NCBI chr17:43,810,003...43,844,553
Ensembl chr17:43,809,677...43,844,555
JBrowse link
G PTPRB protein tyrosine phosphatase receptor type B ISO CTD Direct Evidence: marker/mechanism CTD PMID:24633157 NCBI chr 5:34,656,460...34,794,838
Ensembl chr 5:34,660,029...34,794,321
JBrowse link
G STAT3 signal transducer and activator of transcription 3 ISO protein:increased phosphorylation:blood vessel RGD PMID:18700251 RGD:8694308 NCBI chr12:20,407,316...20,471,091
Ensembl chr12:20,407,233...20,472,993
JBrowse link
G TEK TEK receptor tyrosine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:17569031 NCBI chr 1:195,938,177...196,052,294
Ensembl chr 1:195,937,394...196,051,957
JBrowse link
G TP53 tumor protein p53 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10626228 PMID:10930038 PMID:13678655 PMID:20737008 NCBI chr12:52,939,643...52,953,786
Ensembl chr12:52,939,643...52,953,819
JBrowse link
G VEGFA vascular endothelial growth factor A ISO CTD Direct Evidence: marker/mechanism CTD PMID:17569031 NCBI chr 7:38,746,393...38,762,282
Ensembl chr 7:38,746,052...38,761,038
JBrowse link
G VEGFC vascular endothelial growth factor C ISO CTD Direct Evidence: marker/mechanism CTD PMID:17569031 NCBI chr15:39,037,764...39,136,234
Ensembl chr15:39,037,893...39,133,041
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...15,414,639
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 4:91,224,091...91,225,651
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 9:9,513,856...9,597,959
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 chr12:52,161,776...52,170,344
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...26,397,003
JBrowse link
G DES desmin ISO RGD PMID:10591032 RGD:13525010 NCBI chr15:121,428,539...121,435,426
Ensembl chr15:121,427,103...121,435,424
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 8:101,278,878...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 6:30,058,594...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 chr17:48,175,056...48,188,264
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 chr18:6,209,156...6,228,938
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 chr13:68,179,805...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...38,761,038
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 5:17,263,907...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 1:268,306,120...268,343,827
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 4:124,773,979...124,813,337
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 chr15:112,156,578...112,460,171
JBrowse link
G MMP9 matrix metallopeptidase 9 ISO RGD PMID:16720380 RGD:1582655 NCBI chr17:48,179,690...48,186,782
Ensembl chr17:48,175,056...48,188,264
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...94,993,479
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 1:195,937,394...196,051,957
JBrowse link
arteriovenous malformations of the brain term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 2:97,734,809...98,275,085
JBrowse link
G BRAF B-Raf proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: Cerebral arteriovenous malformation
ClinVar Annotator: match by term: Arteriovenous malformations of the brain
ClinVar PMID:12068308 PMID:12198537 PMID:12447372 PMID:12460918 PMID:12460919 PMID:12619120 PMID:12644542 PMID:12670889 PMID:12794760 PMID:12960123 PMID:14513361 PMID:14602780 PMID:14679157 PMID:15001635 PMID:15035987 PMID:15126572 PMID:15181070 PMID:15342696 PMID:15356022 PMID:15386408 PMID:15687339 PMID:15998781 PMID:16015629 PMID:16174717 PMID:16187918 PMID:16772349 PMID:17374713 PMID:17488796 PMID:17785355 PMID:18398503 PMID:19001320 PMID:19010912 PMID:19018267 PMID:19238210 PMID:19404918 PMID:19537845 PMID:19561230 PMID:20008640 PMID:20350999 PMID:20413299 PMID:20619739 PMID:20630094 PMID:20818844 PMID:20823850 PMID:20857202 PMID:21107320 PMID:21107323 PMID:21129611 PMID:21156289 PMID:21163703 PMID:21426297 PMID:21483012 PMID:21502544 PMID:21639808 PMID:21641636 PMID:21683865 PMID:21975775 PMID:22038996 PMID:22048237 PMID:22113612 PMID:22180495 PMID:22281684 PMID:22351686 PMID:22356324 PMID:22389471 PMID:22448344 PMID:22536370 PMID:22586120 PMID:22608338 PMID:22649091 PMID:22663011 PMID:22735384 PMID:22743296 PMID:22773810 PMID:22805292 PMID:22972589 PMID:22997239 PMID:23020132 PMID:23031422 PMID:23251002 PMID:23302800 PMID:23325582 PMID:23470635 PMID:23524406 PMID:23549875 PMID:23614898 PMID:23685455 PMID:23812671 PMID:23833300 PMID:23845441 PMID:23918947 PMID:24107445 PMID:24112392 PMID:24163374 PMID:24388723 PMID:24508103 PMID:24512911 PMID:24576830 PMID:24583796 PMID:24586605 PMID:24594804 PMID:24670642 PMID:24717435 PMID:25024077 PMID:25037139 PMID:25079330 PMID:25157968 PMID:25265492 PMID:25265494 PMID:25370471 PMID:25399551 PMID:25741868 PMID:25950823 PMID:25989278 PMID:26619011 PMID:26678033 PMID:27404270 PMID:27480103 PMID:28854169 PMID:28891408 PMID:29925953 PMID:31779674 PMID:31891627 NCBI chr18:8,957,963...9,132,558
Ensembl chr18:8,957,959...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 NCBI chr 3:40,637,420...40,694,616
Ensembl chr 3:40,637,436...40,694,818
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...139,478,882
JBrowse link
G ENG endoglin disease_progression ISO ClinVar Annotator: match by term: Cerebral arteriovenous malformation
DNA:polymorphism: : 207G>A(human)
RGD
ClinVar
PMID:16179574 PMID:24520391 PMID:24876084 PMID:25741868 RGD:11041171 RGD:11041564 RGD:1580962 NCBI chr 1:268,309,379...268,343,861
Ensembl chr 1:268,306,120...268,343,827
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 chr11:5,620,700...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 NCBI chr13:38,935,631...39,006,721
Ensembl chr13:38,939,279...39,006,690
JBrowse link
G IL6 interleukin 6 ISO OMIM NCBI chr 9:91,506,421...91,510,830
Ensembl chr 9:91,506,340...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 8:41,809,116...41,856,339
JBrowse link
G KRAS KRAS proto-oncogene, GTPase ISO OMIM NCBI chr 5:48,508,774...48,546,260
Ensembl chr 5:48,508,790...48,549,346
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 NOTCH4 notch receptor 4 ISO RGD PMID:19546852 RGD:6480671 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: Cerebral arteriovenous malformation ClinVar PMID:25741868 PMID:28492532 NCBI chr13:106,517,408...106,558,959
Ensembl chr13:106,517,432...106,559,632
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 chr12:50,728,910...50,898,336
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 4:66,715,234...67,116,135
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 4:110,857,088...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 5:12,017,784...12,578,953
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 5:12,185,816...12,242,637
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...38,761,038
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 2:89,045,612...89,106,977
JBrowse link
Bannayan-Riley-Ruvalcaba 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: RUVALCABA-MYHRE-SMITH SYNDROME
ClinVar Annotator: match by term: MACROCEPHALY, PSEUDOPAPILLEDEMA, AND MULTIPLE HEMANGIOMATA
ClinVar PMID:15930273 PMID:17376864 PMID:18829572 PMID:19366826 PMID:21824802 PMID:22120714 PMID:22729224 PMID:22949682 PMID:24033266 PMID:25157968 PMID:25741868 PMID:26619011 PMID:27631024 PMID:28492532 PMID:28941273 PMID:31568861 NCBI chr13:117,193,935...117,282,151
Ensembl chr13:117,180,544...117,277,232
JBrowse link
G PTEN phosphatase and tensin homolog ISO ClinVar Annotator: match by term: Bannayan-Riley-Ruvalcaba syndrome
ClinVar Annotator: match by term: MACROCEPHALY, PSEUDOPAPILLEDEMA, AND MULTIPLE HEMANGIOMATA
ClinVar Annotator: match by term: RUVALCABA-MYHRE-SMITH SYNDROME
ClinVar PMID:9140396 PMID:9241266 PMID:9259288 PMID:9399897 PMID:9467011 PMID:9598803 PMID:10232405 PMID:10353779 PMID:10400993 PMID:10468583 PMID:10555148 PMID:10749983 PMID:10848731 PMID:10920277 PMID:10923032 PMID:11504908 PMID:11685670 PMID:14518070 PMID:15016963 PMID:15211648 PMID:15254419 PMID:15647370 PMID:16952599 PMID:17392703 PMID:17526800 PMID:17873882 PMID:17941496 PMID:18558293 PMID:18725974 PMID:19340001 PMID:19351834 PMID:19366826 PMID:19458356 PMID:19829307 PMID:19903786 PMID:20018398 PMID:20085938 PMID:20453058 PMID:20600018 PMID:20619739 PMID:20881644 PMID:21194675 PMID:21343951 PMID:21659347 PMID:21956414 PMID:22162582 PMID:22162589 PMID:22281088 PMID:22381246 PMID:22479427 PMID:22491738 PMID:22520842 PMID:23335809 PMID:23349303 PMID:23442912 PMID:23470840 PMID:23475934 PMID:23695273 PMID:23886400 PMID:24033266 PMID:24052722 PMID:24778394 PMID:25157968 PMID:25288137 PMID:25326635 PMID:25669429 PMID:25741868 PMID:25756585 PMID:26376867 PMID:26773036 PMID:27426521 PMID:27477328 PMID:27959697 PMID:28286253 PMID:28492532 PMID:28526761 PMID:29663862 PMID:30287823 PMID:32238909 NCBI chr14:99,929,590...100,021,619 JBrowse link
capillary hemangioma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NPC1 NPC intracellular cholesterol transporter 1 ISO ClinVar Annotator: match by term: Capillary hemangiomas ClinVar PMID:25741868 NCBI chr 6:108,403,126...108,450,486
Ensembl chr 6:108,402,877...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 PMID:9536098 PMID:14639529 PMID:17576681 PMID:18446851 PMID:24038909 PMID:25741868 PMID:26499346 PMID:27535533 PMID:28166811 PMID:28295764 PMID:28492532 PMID:29891884 NCBI chr 2:94,980,938...95,019,053
Ensembl chr 2:94,980,940...95,018,726
JBrowse link
G RASA1 RAS p21 protein activator 1 susceptibility ISO DNA:mutations:multiple (human)
ClinVar Annotator: match by term: Capillary malformation-arteriovenous malformation
CTD Direct Evidence: marker/mechanism
RGD
ClinVar
CTD
PMID:9536098 PMID:14639529 PMID:17576681 PMID:18446851 PMID:24038909 PMID:25741868 PMID:26499346 PMID:27535533 PMID:28166811 PMID:28295764 PMID:28492532 PMID:29171923 PMID:29891884 PMID:30120215 RGD:734495 NCBI chr 2:94,879,615...94,992,725
Ensembl chr 2:94,878,911...94,993,479
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...69,188,182
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 PMID:14639529 PMID:18363760 PMID:18446851 PMID:23164092 PMID:24038909 PMID:25741868 PMID:26499346 PMID:27535533 PMID:28492532 PMID:29120072 NCBI chr 2:94,980,938...95,019,053
Ensembl chr 2:94,980,940...95,018,726
JBrowse link
G RASA1 RAS p21 protein activator 1 ISO OMIM NCBI chr 2:94,879,615...94,992,725
Ensembl chr 2:94,878,911...94,993,479
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 OMIM NCBI chr 3:8,671,052...8,689,778
Ensembl chr 3:8,668,858...8,689,766
JBrowse link
G SLC12A9 solute carrier family 12 member 9 ISO ClinVar Annotator: match by term: CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 2 ClinVar 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 chr18:50,396,423...50,450,132
JBrowse link
G KRIT1 KRIT1 ankyrin repeat containing ISO ClinVar Annotator: match by term: Cavernous hemangioma ClinVar PMID:10545614 PMID:23595507 PMID:24466005 PMID:25741868 PMID:28492532 NCBI chr 9:72,143,652...72,184,774 JBrowse link
cavernous sinus meningioma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DHFR dihydrofolate reductase ISO ClinVar Annotator: match by term: Cavernous Sinus Meningioma ClinVar NCBI chr 2:89,230,660...89,255,830 JBrowse link
G KMT2D lysine methyltransferase 2D ISO ClinVar Annotator: match by term: Cavernous Sinus Meningioma ClinVar NCBI chr 5:15,049,827...15,091,622 JBrowse link
G MSH3 mutS homolog 3 ISO ClinVar Annotator: match by term: Cavernous Sinus Meningioma ClinVar NCBI chr 2:89,255,647...89,456,102
Ensembl chr 2:89,250,189...89,453,936
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 2:94,980,940...95,018,726
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...94,993,479
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:25741868 PMID:28492532 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 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 9:72,184,818...72,328,763
JBrowse link
G CCM2 CCM2 scaffold protein ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cerebral cavernous malformation
CTD
ClinVar
PMID:18154020 PMID:25525273 PMID:25741868 PMID:28492532 NCBI chr18:50,396,423...50,450,442
Ensembl chr18:50,396,423...50,450,132
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 chr11:5,620,700...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 8:41,809,116...41,856,339
JBrowse link
G KRIT1 KRIT1 ankyrin repeat containing susceptibility ISO ClinVar Annotator: match by term: Cerebral cavernous malformation
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cerebral cavernous malformations 1
RGD
ClinVar
CTD
PMID:3393196 PMID:7898703 PMID:9065560 PMID:10508515 PMID:10545614 PMID:10814716 PMID:11161805 PMID:11222804 PMID:11914398 PMID:11959162 PMID:12404106 PMID:12810002 PMID:12854741 PMID:14755725 PMID:15079030 PMID:17187287 PMID:17211633 PMID:18383588 PMID:19088123 PMID:19454328 PMID:20419355 PMID:20798775 PMID:21029238 PMID:23584803 PMID:23595507 PMID:24401931 PMID:24466005 PMID:24689081 PMID:24721395 PMID:25525273 PMID:25741868 PMID:26467025 PMID:28492532 PMID:28645800 PMID:28745674 PMID:30161288 RGD:1358458 RGD:1598379 NCBI chr 9:72,143,652...72,184,774 JBrowse link
G PDCD10 programmed cell death 10 ISO ClinVar Annotator: match by term: Cerebral cavernous malformation ClinVar PMID:28492532 NCBI chr13:106,517,408...106,558,959
Ensembl chr13:106,517,432...106,559,632
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...74,974,724
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: Cerebral cavernous malformation ClinVar NCBI chr13:106,559,326...106,636,930
Ensembl chr13:106,559,735...106,658,119
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 OMIM NCBI chr 9:72,143,652...72,184,774 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 OMIM NCBI chr18:50,396,423...50,450,442
Ensembl chr18:50,396,423...50,450,132
JBrowse link
G NACAD NAC alpha domain containing ISO ClinVar Annotator: match by term: Cerebral cavernous malformations 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 ISO OMIM NCBI chr13:106,517,408...106,558,959
Ensembl chr13:106,517,432...106,559,632
JBrowse link
G SERPINI1 serpin family I member 1 ISO ClinVar Annotator: match by term: Cerebral cavernous malformations 3 ClinVar PMID:18060436 PMID:20623299 PMID:28492532 NCBI chr13:106,559,326...106,636,930
Ensembl chr13:106,559,735...106,658,119
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 OMIM NCBI chr13:117,193,935...117,282,151
Ensembl chr13:117,180,544...117,277,232
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...15,414,639
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 chr13:68,758,636...68,787,192
JBrowse link
familial meningioma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MN1 MN1 proto-oncogene, transcriptional regulator susceptibility ISO ClinVar Annotator: match by term: Meningioma, familial
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:25741868 NCBI chr14:45,093,660...45,142,476
Ensembl chr14:45,096,485...45,140,570
JBrowse link
G NF2 neurofibromin 2 susceptibility ISO ClinVar Annotator: match by term: Meningioma, familial
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:20553997 PMID:25741868 PMID:28492532 NCBI chr14:46,653,869...46,726,421
Ensembl chr14:46,653,902...46,731,999
JBrowse link
G PDGFB platelet derived growth factor subunit B susceptibility ISO ClinVar Annotator: match by term: Meningioma, familial
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:25741868 Ensembl chr 5:8,986,461...9,007,446 JBrowse link
G PTEN phosphatase and tensin homolog susceptibility ISO ClinVar Annotator: match by term: Meningioma, familial
ClinVar Annotator: match by term: Meningioma, familial, susceptibility to
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:9399897 PMID:9425889 PMID:9467011 PMID:10232405 PMID:10353779 PMID:10400993 PMID:10468583 PMID:10555148 PMID:10749983 PMID:10848731 PMID:11685670 PMID:11939587 PMID:14518070 PMID:14566704 PMID:16014636 PMID:16773562 PMID:17392703 PMID:17526801 PMID:17898811 PMID:17942903 PMID:20600018 PMID:21194675 PMID:21659347 PMID:21828076 PMID:21956414 PMID:22381246 PMID:23442912 PMID:23470840 PMID:23475934 PMID:23695273 PMID:24033266 PMID:24052722 PMID:24375884 PMID:24778394 PMID:25022750 PMID:25132236 PMID:25157968 PMID:25326635 PMID:25525159 PMID:25669429 PMID:25741868 PMID:25756585 PMID:25875300 PMID:26468640 PMID:27477328 PMID:27531073 PMID:27959697 PMID:28492532 PMID:28526761 PMID:28677221 PMID:30287823 PMID:30311380 PMID:32238909 NCBI chr14:99,929,590...100,021,619 JBrowse link
G SMARCE1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 susceptibility ISO ClinVar Annotator: match by term: Meningioma, familial
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:9536098 PMID:17576681 PMID:22426308 PMID:23377182 PMID:25169753 PMID:25741868 PMID:28166811 PMID:28492532 NCBI chr12:21,784,410...21,807,170
Ensembl chr12:21,784,426...21,807,170
JBrowse link
G SUFU SUFU negative regulator of hedgehog signaling susceptibility ISO ClinVar Annotator: match by term: Meningioma, familial
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:22958902 PMID:25741868 NCBI chr14:113,500,001...113,628,064
Ensembl chr14:113,500,842...113,614,517
JBrowse link
glomus tumor term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 4:124,773,979...124,813,337
JBrowse link
G SDHD succinate dehydrogenase complex subunit D ISO ClinVar Annotator: match by term: Glomus tumor ClinVar PMID:10657297 PMID:11156372 PMID:11526495 PMID:12007193 PMID:12111639 PMID:12386824 PMID:12696072 PMID:14557476 PMID:15032977 PMID:15623805 PMID:18678321 PMID:21565294 PMID:21979946 PMID:22584711 PMID:22703879 PMID:23175444 PMID:23666964 PMID:24033266 PMID:24728327 PMID:24886695 PMID:25149476 PMID:25694510 PMID:25695889 PMID:25741868 PMID:26467025 PMID:27153395 PMID:27279923 PMID:28128698 PMID:28164237 PMID:28492532 PMID:29386252 NCBI chr 9:39,790,654...39,803,602
Ensembl chr 9:39,790,561...39,803,946
JBrowse link
Glomus Vagale Tumors term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GLMN glomulin, FKBP associated protein ISO OMIM NCBI chr 4:124,773,957...124,813,336
Ensembl chr 4:124,773,979...124,813,337
JBrowse link
hemangioblastoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 1:190,625,181...190,674,850
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...8,069,333
JBrowse link
hemangioma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IDH1 isocitrate dehydrogenase (NADP(+)) 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22057234 NCBI chr15:111,341,153...111,362,330
Ensembl chr15:111,341,152...111,362,280
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 7:55,651,606...55,681,426
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 6:30,058,594...30,086,982
JBrowse link
G NOTCH1 notch receptor 1 ISO ClinVar Annotator: match by term: Hemangioma ClinVar
G PTEN phosphatase and tensin homolog ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hemangioma
CTD
ClinVar
PMID:9286463 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 6:168,534,655...168,690,095
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 3:39,898,922...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
hepatic angiomyolipoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TSC2 TSC complex subunit 2 ISO DNA:mutations:multiple
associated with tuberous sclerosis;DNA:mutations:multiple
RGD PMID:22251200 PMID:29512829 RGD:21079730 RGD:21079732 NCBI chr 3:39,898,924...39,935,579
Ensembl chr 3:39,898,922...39,937,371
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 OMIM NCBI chr 3:73,157,744...73,398,379
Ensembl chr 3:73,157,752...73,398,345
JBrowse link
G FLT4 fms related receptor tyrosine kinase 4 ISO OMIM NCBI chr 2:78,076,008...78,115,137
Ensembl chr 2:78,076,080...78,115,137
JBrowse link
G KDR kinase insert domain receptor ISO OMIM NCBI chr 8:41,809,116...41,856,379
Ensembl chr 8:41,809,116...41,856,339
JBrowse link
G MYH9 myosin heavy chain 9 ISO ClinVar Annotator: match by term: Hemangioma, capillary infantile ClinVar NCBI chr 5:11,365,603...11,456,475 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 6:168,534,655...168,690,095
JBrowse link
Kaposi's sarcoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IL6 interleukin 6 susceptibility ISO ClinVar Annotator: match by term: Kaposi sarcoma, susceptibility to
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:9769329 PMID:10720087 PMID:11001912 PMID:11889177 PMID:12519862 PMID:12560873 PMID:12719374 PMID:15070960 PMID:15331795 PMID:15472205 PMID:16150725 PMID:16278864 PMID:17623760 NCBI chr 9:91,506,421...91,510,830
Ensembl chr 9:91,506,340...91,511,263
JBrowse link
G PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma treatment ISO RGD PMID:21665152 RGD:38599159 NCBI chr 9:106,698,200...106,748,217
Ensembl chr 9:106,698,207...106,745,099
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 8:101,278,878...101,343,916
JBrowse link
G GNA14 G protein subunit alpha 14 ISO ClinVar Annotator: match by term: Kaposiform hemangioendothelioma ClinVar PMID:27476652 NCBI chr 1:230,341,947...230,545,123
Ensembl chr 1:230,341,942...230,546,120
JBrowse link
kidney angiomyolipoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MTOR mechanistic target of rapamycin kinase treatment ISO associated with Tuberous Sclerosis RGD PMID:23054313 RGD:7245506 NCBI chr 6:71,286,989...71,412,913
Ensembl chr 6:71,286,989...71,412,888
JBrowse link
lymphangioleiomyomatosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ESR1 estrogen receptor 1 ISO RGD PMID:18285421 RGD:4892300 NCBI chr 1:14,217,032...14,604,906
Ensembl chr 1:14,217,036...14,493,363
JBrowse link
G HES1 hes family bHLH transcription factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20038814 NCBI chr13:131,135,970...131,137,865
Ensembl chr13:131,135,724...131,138,236
JBrowse link
G JAG2 jagged canonical Notch ligand 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20038814
G MMP3 matrix metallopeptidase 3 treatment ISO RGD PMID:23035046 RGD:8693678 NCBI chr 9:33,446,969...33,453,995
Ensembl chr 9:33,411,065...33,454,000
JBrowse link
G MMP9 matrix metallopeptidase 9 ISO protein:increased expression:serum, plasma RGD PMID:18760908 RGD:5129697 NCBI chr17:48,179,690...48,186,782
Ensembl chr17:48,175,056...48,188,264
JBrowse link
G NOS3 nitric oxide synthase 3 ISO protein:increased expression:lung RGD PMID:11306434 RGD:4892080 NCBI chr18:6,209,218...6,228,912
Ensembl chr18:6,209,156...6,228,938
JBrowse link
G PKM pyruvate kinase, muscle ISO CTD Direct Evidence: marker/mechanism CTD PMID:32078667 NCBI chr 7:60,971,807...61,032,780 JBrowse link
G SRF serum response factor ISO RGD PMID:12654640 RGD:1580753 NCBI chr 7:38,213,300...38,223,686
Ensembl chr 7:38,213,063...38,222,140
JBrowse link
G STAT1 signal transducer and activator of transcription 1 ISO protein:increased serine phosphorylation:lung RGD PMID:15994429 RGD:2298537 NCBI chr15:95,593,201...95,646,324
Ensembl chr15:95,593,211...95,646,260
JBrowse link
G STAT3 signal transducer and activator of transcription 3 ISO protein:increased tyrosine phosphorylation:lung RGD PMID:15994429 RGD:2298537 NCBI chr12:20,407,316...20,471,091
Ensembl chr12:20,407,233...20,472,993
JBrowse link
G TSC1 TSC complex subunit 1 ISO OMIM NCBI chr 1:272,636,530...272,685,948
Ensembl chr 1:272,636,532...272,685,952
JBrowse link
G TSC2 TSC complex subunit 2 ISO OMIM NCBI chr 3:39,898,924...39,935,579
Ensembl chr 3:39,898,922...39,937,371
JBrowse link
G VEGFD vascular endothelial growth factor D ISO CTD Direct Evidence: marker/mechanism CTD PMID:20038814 NCBI chr  X:11,893,254...11,933,923
Ensembl chr  X:11,893,259...11,933,809
JBrowse link
meningioma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AKT1 AKT serine/threonine kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23334667
G ALAD aminolevulinate dehydratase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16140629 NCBI chr 1:254,015,426...254,027,584
Ensembl chr 1:254,012,196...254,027,485
JBrowse link
G BAP1 BRCA1 associated protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25231345 NCBI chr13:34,544,570...34,553,538
Ensembl chr13:34,544,575...34,553,621
JBrowse link
G CST3 cystatin C ISO CTD Direct Evidence: marker/mechanism CTD PMID:19747051 NCBI chr17:30,471,056...30,474,486
Ensembl chr17:30,470,855...30,474,590
JBrowse link
G CSTB cystatin B ISO CTD Direct Evidence: marker/mechanism CTD PMID:19747051 NCBI chr13:206,706,060...206,710,598
Ensembl chr13:206,706,063...206,710,646
JBrowse link
G CTSL cathepsin L ISO CTD Direct Evidence: marker/mechanism CTD PMID:19747051 NCBI chr10:27,668,523...27,674,705
Ensembl chr10:27,668,264...27,674,618
JBrowse link
G DNMT1 DNA methyltransferase 1 ISO ClinVar Annotator: match by term: Meningioma ClinVar NCBI chr 2:68,981,564...69,040,364
Ensembl chr 2:68,981,564...69,029,919
JBrowse link
G EPB41L3 erythrocyte membrane protein band 4.1 like 3 ISO RGD PMID:10888600 RGD:1300356 NCBI chr 6:101,420,376...101,671,177
Ensembl chr 6:101,420,396...101,671,170
JBrowse link
G GSTM3 glutathione S-transferase mu 3 ISO DNA: deletion: intron 6 RGD PMID:16598069 RGD:5688743 NCBI chr 4:110,330,027...110,332,957
Ensembl chr 4:110,330,028...110,332,962
JBrowse link
G HES1 hes family bHLH transcription factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21127729 NCBI chr13:131,135,970...131,137,865
Ensembl chr13:131,135,724...131,138,236
JBrowse link
G HGF hepatocyte growth factor disease_progression ISO protein:increased expression:brain: RGD PMID:12115353 RGD:8548633 NCBI chr 9:98,437,771...98,513,573
Ensembl chr 9:98,437,087...98,513,156
JBrowse link
G MLLT10 MLLT10 histone lysine methyltransferase DOT1L cofactor ISO CTD Direct Evidence: marker/mechanism CTD PMID:21804547 NCBI chr10:53,072,056...53,315,351
Ensembl chr10:53,072,056...53,315,363
JBrowse link
G MN1 MN1 proto-oncogene, transcriptional regulator ISO DNA:translocation RGD PMID:7731706 RGD:1600423 NCBI chr14:45,093,660...45,142,476
Ensembl chr14:45,096,485...45,140,570
JBrowse link
G MTRR 5-methyltetrahydrofolate-homocysteine methyltransferase reductase susceptibility ISO DNA:SNP: :66A>G, (rs1801394) (human) RGD PMID:18483342 RGD:5508186 NCBI chr16:74,245,214...74,270,828
Ensembl chr16:74,245,224...74,270,802
JBrowse link
G NF2 neurofibromin 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Meningioma
CTD
ClinVar
PMID:7868131 PMID:8162072 PMID:8379998 PMID:8882871 PMID:9718334 PMID:9884492 PMID:18033041 PMID:22711605 PMID:23334667 PMID:25741868 PMID:26073919 PMID:28492532 NCBI chr14:46,653,869...46,726,421
Ensembl chr14:46,653,902...46,731,999
JBrowse link
G PDGFB platelet derived growth factor subunit B ISO ClinVar Annotator: match by term: Meningioma ClinVar PMID:2212004 PMID:3133569 PMID:3969118 Ensembl chr 5:8,986,461...9,007,446 JBrowse link
G PGR progesterone receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:8008172 PMID:19731987 PMID:19747051 NCBI chr 9:32,035,684...32,129,776
Ensembl chr 9:32,035,684...32,129,221
JBrowse link
G PTEN phosphatase and tensin homolog ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Meningioma
CTD
ClinVar
PMID:12085208 PMID:23442912 PMID:25741868 PMID:27535533 PMID:28492532 NCBI chr14:99,929,590...100,021,619 JBrowse link
G SMO smoothened, frizzled class receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:23334667 NCBI chr18:19,450,730...19,478,796
Ensembl chr18:19,450,734...19,479,374
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 OMIM NCBI chr 3:69,156,012...69,188,256
Ensembl chr 3:69,133,978...69,188,182
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 TEK TEK receptor tyrosine kinase ISO OMIM NCBI chr 1:195,938,177...196,052,294
Ensembl chr 1:195,937,394...196,051,957
JBrowse link
Non-AIDS-Related Kaposi Sarcoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IL6 interleukin 6 ISO ClinVar Annotator: match by term: Non AIDS related Kaposi sarcoma ClinVar PMID:9769329 PMID:10720087 PMID:11001912 PMID:11889177 PMID:12519862 PMID:12560873 PMID:12719374 PMID:15070960 PMID:15331795 PMID:15472205 PMID:16150725 PMID:16278864 PMID:17623760 NCBI chr 9:91,506,421...91,510,830
Ensembl chr 9:91,506,340...91,511,263
JBrowse link
Pulmonary Venoocclusive Disease 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EIF2AK4 eukaryotic translation initiation factor 2 alpha kinase 4 ISO OMIM NCBI chr 1:131,244,818...131,355,240
Ensembl chr 1:131,245,463...131,355,224
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:25741868 PMID:28492532 NCBI chr 2:94,980,938...95,019,053
Ensembl chr 2:94,980,940...95,018,726
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 OMIM NCBI chr 1:230,607,469...230,906,988
Ensembl chr 1:230,605,229...230,907,675
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 6:30,058,594...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 chr17:48,175,056...48,188,264
JBrowse link
G RASA1 RAS p21 protein activator 1 ISO ClinVar Annotator: match by term: Parkes Weber syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:94,879,615...94,992,725
Ensembl chr 2:94,878,911...94,993,479
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 6:94,960,457...95,317,145
JBrowse link
von Hippel-Lindau disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CCND1 cyclin D1 ISO OMIM 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 3:94,165,815...94,254,079
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 9:33,411,065...33,454,000
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...4,278,989
JBrowse link
G VHL von Hippel-Lindau tumor suppressor ISO OMIM 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 chr11:69,361,227...69,443,039
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 13430
    disease of cellular proliferation 6414
      Neoplasms by Histologic Type 4191
        Vascular Tissue Neoplasms 129
          Angiofibroma 1
          Kaposi's sarcoma + 5
          angiokeratoma + 2
          glomus tumor + 2
          hemangioma + 80
          meningioma + 24
          vascular cancer + 37
Path 2
Term Annotations click to browse term
  disease 13430
    disease of anatomical entity 13094
      cardiovascular system disease 3323
        vascular disease 2406
          Vascular Tissue Neoplasms 129
            Angiofibroma 1
            Kaposi's sarcoma + 5
            angiokeratoma + 2
            glomus tumor + 2
            hemangioma + 80
            meningioma + 24
            vascular cancer + 37
paths to the root