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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.


show annotations for term's descendants           Sort by:
 
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 chr13:22,689,783...22,853,920 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 1:203,638,905...203,644,871
Ensembl chr 1:203,639,000...203,644,871 		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:97,769,227...97,780,646
Ensembl chr  X:97,768,996...97,780,664 		JBrowse link
G Naga alpha-N-acetylgalactosaminidase ISO Kanzaki Disease, OMIM:609242, DNA:point mutation:exon:R329W RGD PMID:8040340 RGD:1600558 NCBI chr 7:113,846,358...113,855,430
Ensembl chr 7:113,846,374...113,855,315 		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 4:30,333,678...30,457,781
Ensembl chr 4:30,333,677...30,457,781 		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 4:30,299,203...30,333,366
Ensembl chr 4:30,299,203...30,333,359 		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;mRNA, protein:decreased expression:kidney
associated with Tuberous Sclerosis;DNA:missense mutations: :p.R45Q, p.A85S, p.R229Q (human)
associated with Tuberous Sclerosis;DNA:SNP: :p.S326C (rs1052133)(human)		 RGD PMID:19265534 PMID:17932460 PMID:17932460 RGD:8657154, RGD:8657155, RGD:8657155 NCBI chr 4:146,474,701...146,481,959
Ensembl chr 4:146,474,750...146,484,766 		JBrowse link
G Pten phosphatase and tensin homolog ISO protein:increased expression:kidney (human) RGD PMID:22737271 RGD:12802360 NCBI chr 1:230,631,303...230,696,754
Ensembl chr 1:230,630,338...230,696,838 		JBrowse link
G Stat1 signal transducer and activator of transcription 1 ISO protein:increased serine phosphorylation:kidney RGD PMID:15994429 RGD:2298537 NCBI chr 9:49,419,561...49,459,969 JBrowse link
G Stat3 signal transducer and activator of transcription 3 ISO protein:increased tyrosine phosphorylation:kidney RGD PMID:15994429 RGD:2298537 NCBI chr10:85,811,206...85,863,057
Ensembl chr10:85,811,218...85,863,057 		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 chr10:13,621,135...13,655,773
Ensembl chr10:13,621,136...13,655,951 		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 chr16:71,088,364...71,138,805
Ensembl chr16:71,088,364...71,138,804 		JBrowse link
G Ccnd1 cyclin D1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17569031 NCBI chr 1:200,089,002...200,098,524
Ensembl chr 1:200,089,002...200,098,602 		JBrowse link
G Col18a1 collagen type XVIII alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:17569031 NCBI chr20:11,474,104...11,582,593
Ensembl chr20:11,474,104...11,582,593 		JBrowse link
G Csf3 colony stimulating factor 3 ISO CTD Direct Evidence: therapeutic CTD PMID:9774950 NCBI chr10:83,660,787...83,664,569
Ensembl chr10:83,661,207...83,663,603 		JBrowse link
G Ctnnb1 catenin beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:13678655 NCBI chr 8:120,640,008...120,667,110
Ensembl chr 8:120,639,995...120,667,111 		JBrowse link
G Flt1 Fms related receptor tyrosine kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17569031 NCBI chr12:7,296,899...7,468,626
Ensembl chr12:7,297,292...7,468,626 		JBrowse link
G Gja4 gap junction protein, alpha 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17569031 NCBI chr 5:139,633,324...139,635,857
Ensembl chr 5:139,633,287...139,635,925 		JBrowse link
G Hras HRas proto-oncogene, GTPase ISO CTD Direct Evidence: marker/mechanism CTD PMID:10930038 NCBI chr 1:196,290,127...196,299,823
Ensembl chr 1:196,296,263...196,300,615 		JBrowse link
G Jun Jun proto-oncogene, AP-1 transcription factor subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:17569031 NCBI chr 5:109,894,175...109,897,268
Ensembl chr 5:109,893,145...109,897,656 		JBrowse link
G Kdr kinase insert domain receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:17569031 NCBI chr14:32,217,871...32,261,018
Ensembl chr14:32,217,871...32,261,018 		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 More... NCBI chr 4:178,185,418...178,218,484 JBrowse link
G Med12 mediator complex subunit 12 ISO ClinVar Annotator: match by term: Angiosarcoma ClinVar PMID:26822237 NCBI chr  X:66,404,622...66,427,772
Ensembl chr  X:66,404,760...66,428,387 		JBrowse link
G Myc MYC proto-oncogene, bHLH transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:17569031 NCBI chr 7:93,593,705...93,598,633
Ensembl chr 7:93,593,705...93,598,630 		JBrowse link
G Plcg1 phospholipase C, gamma 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24633157 NCBI chr 3:149,385,587...149,416,330
Ensembl chr 3:149,385,587...149,416,330 		JBrowse link
G Ptprb protein tyrosine phosphatase, receptor type, B ISO CTD Direct Evidence: marker/mechanism CTD PMID:24633157 NCBI chr 7:51,953,375...52,034,751
Ensembl chr 7:51,930,015...52,034,748 		JBrowse link
G Stat3 signal transducer and activator of transcription 3 ISO protein:increased phosphorylation:blood vessel RGD PMID:18700251 RGD:8694308 NCBI chr10:85,811,206...85,863,057
Ensembl chr10:85,811,218...85,863,057 		JBrowse link
G Tek TEK receptor tyrosine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:17569031 NCBI chr 5:109,607,077...109,733,805
Ensembl chr 5:109,607,077...109,733,804 		JBrowse link
G Tp53 tumor protein p53 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10626228 PMID:10930038 PMID:13678655 PMID:20737008 NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524 		JBrowse link
G Vegfa vascular endothelial growth factor A ISO CTD Direct Evidence: marker/mechanism CTD PMID:17569031 NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641 		JBrowse link
G Vegfc vascular endothelial growth factor C ISO CTD Direct Evidence: marker/mechanism CTD PMID:17569031 NCBI chr16:37,712,408...37,827,657
Ensembl chr16:37,712,262...37,827,848 		JBrowse link
Arteriovenous Fistula term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ace angiotensin I converting enzyme treatment IEP
IMP		 protein:increased activity:heart left ventricle (rat) RGD PMID:22768235 PMID:8386093 RGD:12859285, RGD:12880017 NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131 		JBrowse link
G Ackr1 atypical chemokine receptor 1 IEP RGD PMID:24429330 RGD:9681736 NCBI chr13:85,782,396...85,786,002 JBrowse link
G Angpt2 angiopoietin 2 IEP mRNA:increased expression:lung (rat) RGD PMID:18692629 RGD:2314184 NCBI chr16:71,088,364...71,138,805
Ensembl chr16:71,088,364...71,138,804 		JBrowse link
G Arrb1 arrestin, beta 1 IEP mRNA, protein:altered expression:left ventricle (rat) RGD PMID:22015551 RGD:5509867 NCBI chr 1:153,837,964...153,912,111
Ensembl chr 1:153,838,078...153,904,061 		JBrowse link
G Arrb2 arrestin, beta 2 IEP mRNA, protein:altered expression:left ventricle (rat) RGD PMID:22015551 RGD:5509867 NCBI chr10:55,146,887...55,154,854
Ensembl chr10:55,146,818...55,154,850 		JBrowse link
G Col1a1 collagen type I alpha 1 chain IEP in Long Evans rats;mRNA:increased expression:aorta RGD PMID:16428894 RGD:8552771 NCBI chr10:79,883,622...79,900,625
Ensembl chr10:79,883,622...79,900,624 		JBrowse link
G Des desmin IEP RGD PMID:10591032 RGD:13525010 NCBI chr 9:76,850,979...76,858,695
Ensembl chr 9:76,850,982...76,858,699 		JBrowse link
G Fgf2 fibroblast growth factor 2 ISO RGD PMID:10541235 RGD:8655590 NCBI chr 2:120,236,328...120,290,673
Ensembl chr 2:120,236,328...120,291,221 		JBrowse link
G Mmp2 matrix metallopeptidase 2 treatment IEP
ISO		 protein:increased expression:ileal vein RGD PMID:17398390 PMID:23924957 RGD:1642040, RGD:13204800 NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870 		JBrowse link
G Mmp9 matrix metallopeptidase 9 treatment IEP
ISO		 RGD PMID:17398390 PMID:23924957 RGD:1642040, RGD:13204800 NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120 		JBrowse link
G Nos3 nitric oxide synthase 3 IEP protein:increased expression:vena cava RGD PMID:17344190 RGD:2292146 NCBI chr 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166 		JBrowse link
G Timp4 TIMP metallopeptidase inhibitor 4 IEP protein:decreased expression:ileal vein RGD PMID:17398390 RGD:1642040 NCBI chr 4:148,306,021...148,312,558
Ensembl chr 4:148,304,490...148,312,558 		JBrowse link
G Vegfa vascular endothelial growth factor A IEP
ISO		 protein:increased expression:brain cortex, brain dura mater: RGD PMID:24626343 PMID:10541235 RGD:8551823, RGD:8655590 NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641 		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 7:132,239,200...132,256,592
Ensembl chr 7:132,239,729...132,256,591 		JBrowse link
G Eng endoglin susceptibility ISO associated with Telangiectasia, Hereditary Hemorrhagic; RGD PMID:8728706 PMID:24520391 RGD:11041184, RGD:11041564 NCBI chr 3:15,934,566...15,972,618
Ensembl chr 3:15,934,518...15,973,230 		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 chr12:19,326,411...19,351,667
Ensembl chr12:19,326,427...19,351,314 		JBrowse link
G Glmn glomulin, FKBP associated protein ISO glomuvenous malformations RGD PMID:11845407 RGD:1598992 NCBI chr14:2,187,144...2,231,295
Ensembl chr14:2,187,642...2,230,420 		JBrowse link
G Map2 microtubule-associated protein 2 IEP protein:decreased expression:hippocampus RGD PMID:20873448 RGD:6483324 NCBI chr 9:67,723,422...67,981,886
Ensembl chr 9:67,723,371...67,979,809 		JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO RGD PMID:16720380 RGD:1582655 NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120 		JBrowse link
G Rasa1 RAS p21 protein activator 1 ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:14639529 PMID:15917201 RGD:1581296 NCBI chr 2:15,857,704...15,940,757
Ensembl chr 2:15,857,980...15,940,854 		JBrowse link
G Tek TEK receptor tyrosine kinase susceptibility ISO DNA:missense mutation: :p.R849W RGD PMID:8980225 RGD:1578533 NCBI chr 5:109,607,077...109,733,805
Ensembl chr 5:109,607,077...109,733,804 		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 ISS OMIM:108010 MouseDO NCBI chr 7:132,239,200...132,256,592
Ensembl chr 7:132,239,729...132,256,591 		JBrowse link
G Adgrv1 adhesion G protein-coupled receptor V1 ISO ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 NCBI chr 2:11,331,434...11,911,713
Ensembl chr 2:11,331,442...11,911,688 		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 More... NCBI chr 4:68,375,484...68,510,652
Ensembl chr 4:68,384,649...68,510,463 		JBrowse link
G Cacna1h calcium voltage-gated channel subunit alpha1 H ISO ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 NCBI chr10:14,390,104...14,448,204
Ensembl chr10:14,390,113...14,448,376 		JBrowse link
G Cdh2 cadherin 2 ISO ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 NCBI chr18:7,776,704...7,990,934
Ensembl chr18:7,776,704...7,990,167 		JBrowse link
G Egfr epidermal growth factor receptor ISO ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 NCBI chr14:91,176,931...91,349,722
Ensembl chr14:91,177,067...91,344,382 		JBrowse link
G Eng endoglin disease_progression ISO
ISS		 DNA:polymorphism: : 207G>A(human)
ClinVar Annotator: match by term: Cerebral arteriovenous malformation
OMIM:108010		 ClinVar
MouseDO
RGD		 PMID:25741868 PMID:24876084 PMID:24520391 RGD:11041171, RGD:11041564 NCBI chr 3:15,934,566...15,972,618
Ensembl chr 3:15,934,518...15,973,230 		JBrowse link
G Flt1 Fms related receptor tyrosine kinase 1 ISO protein:increased expression:endothelial cell: RGD PMID:11220380 RGD:8551824 NCBI chr12:7,296,899...7,468,626
Ensembl chr12:7,297,292...7,468,626 		JBrowse link
G Gli2 GLI family zinc finger 2 ISO ClinVar Annotator: match by term: Arteriovenous malformations of the brain ClinVar PMID:25741868 NCBI chr13:29,946,809...30,163,901
Ensembl chr13:29,946,809...30,163,574 		JBrowse link
G Il17rd interleukin 17 receptor D ISO ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25636053 PMID:25741868 NCBI chr16:2,228,467...2,295,126
Ensembl chr16:2,228,287...2,292,556 		JBrowse link
G Il6 interleukin 6 ISO OMIM NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178 		JBrowse link
G Kdr kinase insert domain receptor ISO protein:increased expression:endothelial cell: RGD PMID:11220380 RGD:8551824 NCBI chr14:32,217,871...32,261,018
Ensembl chr14:32,217,871...32,261,018 		JBrowse link
G Kras KRAS proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Arteriovenous malformations of the brain OMIM
ClinVar		 PMID:2278970 PMID:3122217 PMID:7773929 PMID:8439212 PMID:12460918 More... NCBI chr 4:178,185,418...178,218,484 JBrowse link
G Lemd3 LEM domain containing 3 ISO ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 NCBI chr 7:56,415,053...56,499,047
Ensembl chr 7:56,305,448...56,502,474 		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 9:42,200,708...42,326,708
Ensembl chr 9:42,200,278...42,326,698 		JBrowse link
G Notch4 notch receptor 4 ISO
ISS		 OMIM:108010 MouseDO
RGD		 PMID:19546852 RGD:6480671 NCBI chr20:4,160,362...4,184,466
Ensembl chr20:4,160,445...4,184,465 		JBrowse link
G Pdcd10 programmed cell death 10 ISO ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:160,303,465...160,346,086
Ensembl chr 2:160,303,449...160,346,018 		JBrowse link
G Pitpnm3 PITPNM family member 3 ISO ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 NCBI chr10:56,674,697...56,766,552
Ensembl chr10:56,676,261...56,766,584 		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 5:7,937,692...8,253,112
Ensembl chr 5:7,942,573...8,253,068 		JBrowse link
G Sars1 seryl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 NCBI chr 2:196,065,543...196,081,240
Ensembl chr 2:196,065,430...196,081,277 		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 1:163,831,876...163,899,925
Ensembl chr 1:163,832,015...163,899,393 		JBrowse link
G Syn3 synapsin III ISO ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 NCBI chr 7:16,216,055...17,808,790
Ensembl chr 7:17,376,372...17,808,790 		JBrowse link
G Timp3 TIMP metallopeptidase inhibitor 3 ISO ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 NCBI chr 7:17,520,827...17,571,871
Ensembl chr 7:17,521,919...17,571,839 		JBrowse link
G Vegfa vascular endothelial growth factor A ISO RGD PMID:16388189 RGD:1580567 NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641 		JBrowse link
G Zfyve16 zinc finger FYVE-type containing 16 ISO ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 NCBI chr 2:23,713,018...23,757,576
Ensembl chr 2:23,713,766...23,756,990 		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 chr14:91,176,931...91,349,722
Ensembl chr14:91,177,067...91,344,382 		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...
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: Cowden syndrome 1
ClinVar Annotator: match by term: MACROCEPHALY, PSEUDOPAPILLEDEMA, AND MULTIPLE HEMANGIOMATA		 ClinVar PMID:15016963 PMID:15254419 PMID:15520168 PMID:15647370 PMID:15805248 More... NCBI chr 2:115,175,275...115,249,034
Ensembl chr 2:115,174,984...115,249,032 		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 Annotator: match by term: RUVALCABA-MYHRE-SMITH SYNDROME
ClinVar Annotator: match by term: MACROCEPHALY, PSEUDOPAPILLEDEMA, AND MULTIPLE HEMANGIOMATA		 ClinVar
OMIM		 PMID:1097835 PMID:2338203 PMID:7728760 PMID:8673088 PMID:8980400 More... NCBI chr 1:230,631,303...230,696,754
Ensembl chr 1:230,630,338...230,696,838 		JBrowse link
G Sdhb succinate dehydrogenase complex iron sulfur subunit B ISO ClinVar Annotator: match by term: MACROCEPHALY, PSEUDOPAPILLEDEMA, AND MULTIPLE HEMANGIOMATA ClinVar PMID:27604842 PMID:28492532 NCBI chr 5:153,264,906...153,285,570
Ensembl chr 5:153,264,899...153,314,293 		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 chr18:3,379,482...3,425,100
Ensembl chr18:3,379,482...3,425,049 		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:16199547 PMID:17576681 PMID:18446851 More... NCBI chr 2:15,834,833...15,855,643
Ensembl chr 2:15,834,833...15,855,819 		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		 ClinVar
CTD
RGD		 PMID:9536098 PMID:14639529 PMID:16199547 PMID:17576681 PMID:18446851 More... RGD:734495 NCBI chr 2:15,857,704...15,940,757
Ensembl chr 2:15,857,980...15,940,854 		JBrowse link
G Stambp Stam binding protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:23542699 NCBI chr 4:116,055,563...116,083,563
Ensembl chr 4:116,056,057...116,080,543 		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 More... NCBI chr 2:15,834,833...15,855,643
Ensembl chr 2:15,834,833...15,855,819 		JBrowse link
G Rasa1 RAS p21 protein activator 1 ISO ClinVar Annotator: match by term: Capillary malformation-arteriovenous malformation 1 OMIM
ClinVar		 PMID:14639529 PMID:18363760 PMID:18446851 PMID:23164092 PMID:24038909 More... NCBI chr 2:15,857,704...15,940,757
Ensembl chr 2:15,857,980...15,940,854 		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: Capillary malformation-arteriovenous malformation 2		 ClinVar
OMIM		 PMID:25741868 PMID:28687708 PMID:28730721 PMID:29444212 PMID:30578106 NCBI chr12:19,326,411...19,351,667
Ensembl chr12:19,326,427...19,351,314 		JBrowse link
G Slc12a9 solute carrier family 12, member 9 ISO ClinVar Annotator: match by term: CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 2
ClinVar Annotator: match by term: Capillary malformation-arteriovenous malformation 2		 ClinVar PMID:25741868 PMID:28687708 NCBI chr12:19,368,990...19,385,881
Ensembl chr12:19,369,004...19,385,877 		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 chr14:81,418,418...81,464,114
Ensembl chr14:81,418,236...81,464,116 		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 4:30,299,203...30,333,366
Ensembl chr 4:30,299,203...30,333,359 		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 2:23,585,876...23,611,199
Ensembl chr 2:23,586,031...23,613,713 		JBrowse link
G Kmt2d lysine methyltransferase 2D ISO ClinVar Annotator: match by term: Cavernous sinus meningioma ClinVar PMID:21671394 PMID:22126750 PMID:28492532 NCBI chr 7:129,980,744...130,022,088
Ensembl chr 7:129,962,887...130,020,325 		JBrowse link
G Msh3 mutS homolog 3 ISO ClinVar Annotator: match by term: Cavernous Sinus Meningioma ClinVar NCBI chr 2:23,444,326...23,585,777 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 2:15,834,833...15,855,643
Ensembl chr 2:15,834,833...15,855,819 		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 2:15,857,704...15,940,757
Ensembl chr 2:15,857,980...15,940,854 		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 chr 4:146,772,483...146,779,376
Ensembl chr 4:146,772,468...146,779,377 		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 4:30,333,678...30,457,781
Ensembl chr 4:30,333,677...30,457,781 		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 chr14:81,418,418...81,464,114
Ensembl chr14:81,418,236...81,464,116 		JBrowse link
G Flt1 Fms related receptor tyrosine kinase 1 ISO protein:increased expression:endothelial cell: RGD PMID:11220380 RGD:8551824 NCBI chr12:7,296,899...7,468,626
Ensembl chr12:7,297,292...7,468,626 		JBrowse link
G Kdr kinase insert domain receptor ISO protein:increased expression:endothelial cell: RGD PMID:11220380 RGD:8551824 NCBI chr14:32,217,871...32,261,018
Ensembl chr14:32,217,871...32,261,018 		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 OMIM:116860		 ClinVar
CTD
RGD		 PMID:3393196 PMID:7898703 PMID:9065560 PMID:9536098 PMID:10508515 More... RGD:1358458, RGD:1598379 NCBI chr 4:30,299,203...30,333,366
Ensembl chr 4:30,299,203...30,333,359 		JBrowse link
G Pdcd10 programmed cell death 10 ISO ClinVar Annotator: match by term: Cerebral cavernous malformation ClinVar PMID:28492532 NCBI chr 2:160,303,465...160,346,086
Ensembl chr 2:160,303,449...160,346,018 		JBrowse link
G Pon1 paraoxonase 1 susceptibility ISO DNA:missense mutations:cds:p.L55M, p.Q192R (human) RGD PMID:26122242 RGD:11552573 NCBI chr 4:33,294,737...33,325,759
Ensembl chr 4:33,294,722...33,321,360 		JBrowse link
G Pten phosphatase and tensin homolog ISO protein:decreased expression:brain (human) RGD PMID:19061355 RGD:12859036 NCBI chr 1:230,631,303...230,696,754
Ensembl chr 1:230,630,338...230,696,838 		JBrowse link
G Serpini1 serpin family I member 1 ISO ClinVar Annotator: match by term: Cerebral cavernous malformation ClinVar NCBI chr 2:160,346,403...160,433,135
Ensembl chr 2:160,346,758...160,433,135 		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 malformations 1 ClinVar
OMIM		 PMID:3393196 PMID:7898703 PMID:9065560 PMID:10508515 PMID:10545614 More... NCBI chr 4:30,299,203...30,333,366
Ensembl chr 4:30,299,203...30,333,359 		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 malformations 2 OMIM
ClinVar		 PMID:2468908 PMID:14624391 PMID:14740320 PMID:15122722 PMID:16199547 More... NCBI chr14:81,418,418...81,464,114
Ensembl chr14:81,418,236...81,464,116 		JBrowse link
G Nacad NAC alpha domain containing ISO ClinVar Annotator: match by term: Cerebral cavernous malformations 2 ClinVar PMID:17160895 PMID:28492532 NCBI chr14:81,465,299...81,473,866
Ensembl chr14:81,465,299...81,473,781 		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 ClinVar Annotator: match by term: Cerebral cavernous malformations 3 OMIM
ClinVar		 PMID:9536098 PMID:15543491 PMID:17576681 PMID:18035376 PMID:18060436 More... NCBI chr 2:160,303,465...160,346,086
Ensembl chr 2:160,303,449...160,346,018 		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 chr 2:160,346,403...160,433,135
Ensembl chr 2:160,346,758...160,433,135 		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: LOPEZ-GUTIERREZ 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		 ClinVar
OMIM		 PMID:15016963 PMID:15254419 PMID:15520168 PMID:15608678 PMID:15647370 More... NCBI chr 2:115,175,275...115,249,034
Ensembl chr 2:115,174,984...115,249,032 		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 ISO DNA:deletion:intron:IVS16+1464-1751del (human) RGD PMID:20488708 RGD:11039024 NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131 		JBrowse link
G Cand2 cullin-associated and neddylation-dissociated 2 (putative) ISO RGD PMID:31426861 RGD:18899564 NCBI chr 4:148,835,050...148,864,039
Ensembl chr 4:148,835,053...148,863,153 		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 chr12:45,184,060...45,220,102
Ensembl chr12:45,183,085...45,221,651 		JBrowse link
G Nf2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor susceptibility ISO ClinVar Annotator: match by term: Meningioma, familial
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:20553997 PMID:25741868 PMID:28492532 NCBI chr14:79,627,399...79,710,709
Ensembl chr14:79,627,399...79,710,667 		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 NCBI chr 7:111,539,444...111,557,984
Ensembl chr 7:111,540,345...111,557,984 		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 More... NCBI chr 1:230,631,303...230,696,754
Ensembl chr 1:230,630,338...230,696,838 		JBrowse link
G Smarce1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 susceptibility ISO ClinVar Annotator: match by OMIM:607174
ClinVar Annotator: match by term: Meningioma, familial
CTD Direct Evidence: marker/mechanism		 ClinVar
OMIM
CTD		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:22426308 PMID:23377182 More... NCBI chr10:84,159,270...84,180,547
Ensembl chr10:84,159,275...84,179,989 		JBrowse link
G Sufu SUFU negative regulator of hedgehog signaling susceptibility ISO ClinVar Annotator: match by OMIM:607174
ClinVar Annotator: match by term: Meningioma, familial
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:22958902 PMID:25741868 NCBI chr 1:245,257,725...245,355,576
Ensembl chr 1:245,257,768...245,355,577 		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 chr14:2,187,144...2,231,295
Ensembl chr14:2,187,642...2,230,420 		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 More... NCBI chr 8:50,944,717...50,954,298
Ensembl chr 8:50,944,704...50,954,238 		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 ClinVar Annotator: match by OMIM:138000
ClinVar Annotator: match by term: Glomuvenous malformations		 ClinVar
OMIM		 PMID:11175297 PMID:11845407 PMID:15689436 PMID:23801931 PMID:24033266 More... NCBI chr14:2,187,144...2,231,295
Ensembl chr14:2,187,642...2,230,420 		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 6:92,624,059...92,669,262
Ensembl chr 6:92,624,390...92,669,261 		JBrowse link
G Ndrg1 N-myc downstream regulated 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15341671 NCBI chr 7:98,684,487...98,725,869
Ensembl chr 7:98,684,487...98,725,880 		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 chr 9:66,534,146...66,563,703
Ensembl chr 9:66,534,146...66,563,708 		JBrowse link
G Idh2 isocitrate dehydrogenase (NADP(+)) 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22057234 NCBI chr 1:134,038,644...134,057,969
Ensembl chr 1:134,029,772...134,058,025 		JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO RGD PMID:19821096 RGD:8657063 NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870 		JBrowse link
G Notch1 notch receptor 1 ISO ClinVar Annotator: match by term: Hemangioma ClinVar NCBI chr 3:9,277,955...9,323,531
Ensembl chr 3:9,278,086...9,323,531 		JBrowse link
G Pten phosphatase and tensin homolog ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hemangioma		 CTD
ClinVar		 PMID:9286463 PMID:9467011 PMID:21194675 PMID:28492532 NCBI chr 1:230,631,303...230,696,754
Ensembl chr 1:230,630,338...230,696,838 		JBrowse link
G Slc2a1 solute carrier family 2 member 1 ISO RGD PMID:10665907 RGD:12879499 NCBI chr 5:132,717,196...132,745,416
Ensembl chr 5:132,717,196...132,745,416 		JBrowse link
G Srd5a3 steroid 5 alpha-reductase 3 ISO ClinVar Annotator: match by term: Hemangioma ClinVar PMID:25741868 PMID:28492532 NCBI chr14:32,046,415...32,060,796
Ensembl chr14:32,046,408...32,060,747 		JBrowse link
G Tsc2 TSC complex subunit 2 ISO RGD PMID:10096549 RGD:11568655 NCBI chr10:13,621,135...13,655,773
Ensembl chr10:13,621,136...13,655,951 		JBrowse link
G Yap1 Yes1 associated transcriptional regulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:31351048 NCBI chr 8:5,095,705...5,166,808
Ensembl chr 8:5,095,722...5,167,010 		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 NCBI chr 5:139,633,324...139,635,857
Ensembl chr 5:139,633,287...139,635,925 		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 IAGP DNA:mutations:multiple
associated with tuberous sclerosis;DNA:mutations:multiple		 RGD PMID:29512829 PMID:22251200 RGD:21079730, RGD:21079732 NCBI chr10:13,621,135...13,655,773
Ensembl chr10:13,621,136...13,655,951 		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: Hemangioma, capillary infantile, susceptibility to OMIM
ClinVar		 PMID:18931684 NCBI chr 4:119,590,770...119,778,232
Ensembl chr 4:119,590,771...119,778,232 		JBrowse link
G Flt4 Fms related receptor tyrosine kinase 4 ISO ClinVar Annotator: match by term: Hemangioma, capillary infantile, susceptibility to OMIM
ClinVar		 PMID:11807987 PMID:25741868 PMID:28492532 NCBI chr10:33,913,725...33,954,770
Ensembl chr10:33,913,608...33,954,770 		JBrowse link
G Kdr kinase insert domain receptor ISO ClinVar Annotator: match by term: Hemangioma, capillary infantile
ClinVar Annotator: match by term: Hemangioma, capillary infantile, susceptibility to
ClinVar Annotator: match by OMIM:602089		 OMIM
ClinVar		 PMID:11807987 PMID:18931684 PMID:24033266 PMID:24728327 NCBI chr14:32,217,871...32,261,018
Ensembl chr14:32,217,871...32,261,018 		JBrowse link
G Myh9 myosin, heavy chain 9 ISO ClinVar Annotator: match by term: Hemangioma, capillary infantile ClinVar NCBI chr 7:109,343,718...109,424,457
Ensembl chr 7:109,343,706...109,424,457 		JBrowse link
G Slc2a1 solute carrier family 2 member 1 ISO RGD PMID:17554865 RGD:12879502 NCBI chr 5:132,717,196...132,745,416
Ensembl chr 5:132,717,196...132,745,416 		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 synonym: Kaposi sarcoma, susceptibility to
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:9769329 PMID:10720087 PMID:11001912 PMID:11889177 PMID:12519862 More... NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178 		JBrowse link
G Pik3cg phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma treatment ISO RGD PMID:21665152 RGD:38599159 NCBI chr 6:48,766,778...48,802,098
Ensembl chr 6:48,766,864...48,802,043 		JBrowse link
G Tp53 tumor protein p53 ISO GAD PMID:15118671 RGD:1331525 NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524 		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 2:120,236,328...120,290,673
Ensembl chr 2:120,236,328...120,291,221 		JBrowse link
G Gna14 G protein subunit alpha 14 ISO ClinVar Annotator: match by term: Kaposiform hemangioendothelioma ClinVar PMID:27476652 NCBI chr 1:213,714,993...213,900,083
Ensembl chr 1:213,716,020...213,897,423 		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 5:158,884,856...158,994,311
Ensembl chr 5:158,884,804...158,994,311 		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 1:41,106,335...41,499,104
Ensembl chr 1:41,210,475...41,495,002 		JBrowse link
G Hes1 hes family bHLH transcription factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20038814 NCBI chr11:70,705,763...70,708,176
Ensembl chr11:70,705,764...70,708,192 		JBrowse link
G Jag2 jagged canonical Notch ligand 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20038814 NCBI chr 6:131,983,056...132,005,359
Ensembl chr 6:131,983,056...132,005,818 		JBrowse link
G Mmp3 matrix metallopeptidase 3 treatment ISO RGD PMID:23035046 RGD:8693678 NCBI chr 8:4,640,397...4,653,963
Ensembl chr 8:4,640,416...4,653,961 		JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO protein:increased expression:serum, plasma RGD PMID:18760908 RGD:5129697 NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120 		JBrowse link
G Nos3 nitric oxide synthase 3 ISO protein:increased expression:lung RGD PMID:11306434 RGD:4892080 NCBI chr 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166 		JBrowse link
G Pkm pyruvate kinase M1/2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:32078667 NCBI chr 8:60,057,629...60,079,600
Ensembl chr 8:60,057,402...60,079,599 		JBrowse link
G Srf serum response factor ISO RGD PMID:12654640 RGD:1580753 NCBI chr 9:14,426,453...14,435,734
Ensembl chr 9:14,426,472...14,435,733 		JBrowse link
G Stat1 signal transducer and activator of transcription 1 ISO protein:increased serine phosphorylation:lung RGD PMID:15994429 RGD:2298537 NCBI chr 9:49,419,561...49,459,969 JBrowse link
G Stat3 signal transducer and activator of transcription 3 ISO protein:increased tyrosine phosphorylation:lung RGD PMID:15994429 RGD:2298537 NCBI chr10:85,811,206...85,863,057
Ensembl chr10:85,811,218...85,863,057 		JBrowse link
G Tsc1 TSC complex subunit 1 ISO ClinVar Annotator: match by term: Lymphangiomyomatosis
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:606690		 OMIM
ClinVar
CTD		 PMID:5279523 PMID:9242607 PMID:9328481 PMID:9803264 PMID:9863590 More... NCBI chr 3:11,969,547...12,018,591
Ensembl chr 3:11,979,729...12,015,674 		JBrowse link
G Tsc2 TSC complex subunit 2 ISO ClinVar Annotator: match by term: Lymphangiomyomatosis
ClinVar Annotator: match by term: Lymphangioleiomyomatosis
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:606690
DNA:loss of heterozygosity
ClinVar Annotator: match by term: Lymphangioleiomyomatosis, somatic		 ClinVar
CTD
OMIM
RGD		 PMID:5279523 PMID:8824881 PMID:9076719 PMID:9285776 PMID:9302281 More... RGD:1580521, RGD:11568662 NCBI chr10:13,621,135...13,655,773
Ensembl chr10:13,621,136...13,655,951 		JBrowse link
G Vegfd vascular endothelial growth factor D ISO CTD Direct Evidence: marker/mechanism CTD PMID:20038814 NCBI chr  X:30,073,122...30,108,413
Ensembl chr  X:30,074,163...30,108,295 		JBrowse link
meninges sarcoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tp53 tumor protein p53 IMP RGD PMID:27528400 RGD:12738450 NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524 		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 NCBI chr 6:131,713,716...131,735,319
Ensembl chr 6:131,713,720...131,733,921 		JBrowse link
G Alad aminolevulinate dehydratase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16140629 NCBI chr 5:75,961,993...75,972,334
Ensembl chr 5:75,961,993...75,972,474 		JBrowse link
G Bap1 Brca1 associated protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25231345 NCBI chr16:6,446,709...6,455,535
Ensembl chr16:6,446,709...6,455,535 		JBrowse link
G Cst3 cystatin C ISO CTD Direct Evidence: marker/mechanism CTD PMID:19747051 NCBI chr 3:136,336,923...136,340,796
Ensembl chr 3:136,336,920...136,340,822 		JBrowse link
G Cstb cystatin B ISO CTD Direct Evidence: marker/mechanism CTD PMID:19747051 NCBI chr20:10,245,462...10,247,505
Ensembl chr20:10,245,462...10,247,526 		JBrowse link
G Ctsl cathepsin L ISO CTD Direct Evidence: marker/mechanism CTD PMID:19747051 NCBI chr17:764,370...770,533
Ensembl chr17:764,309...770,548 		JBrowse link
G Dnmt1 DNA methyltransferase 1 ISO ClinVar Annotator: match by term: Meningioma ClinVar NCBI chr 8:19,440,611...19,486,659
Ensembl chr 8:19,440,611...19,486,659 		JBrowse link
G Epb41l3 erythrocyte membrane protein band 4.1-like 3 ISO RGD PMID:10888600 RGD:1300356 NCBI chr 9:109,056,178...109,260,607
Ensembl chr 9:109,016,113...109,260,607 		JBrowse link
G Gstm3 glutathione S-transferase mu 3 ISO DNA: deletion: intron 6 RGD PMID:16598069 RGD:5688743 NCBI chr 2:195,590,450...195,612,578
Ensembl chr 2:195,607,289...195,612,475 		JBrowse link
G Gstm5 glutathione S-transferase, mu 5 ISO DNA: deletion: intron 6 RGD PMID:16598069 RGD:5688743 NCBI chr 2:195,531,627...195,534,562
Ensembl chr 2:195,531,495...195,534,553 		JBrowse link
G Hes1 hes family bHLH transcription factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21127729 NCBI chr11:70,705,763...70,708,176
Ensembl chr11:70,705,764...70,708,192 		JBrowse link
G Hgf hepatocyte growth factor disease_progression ISO protein:increased expression:brain: RGD PMID:12115353 RGD:8548633 NCBI chr 4:18,673,736...18,745,582
Ensembl chr 4:18,677,101...18,745,409 		JBrowse link
G Mllt10 MLLT10, histone lysine methyltransferase DOT1L cofactor ISO CTD Direct Evidence: marker/mechanism CTD PMID:21804547 NCBI chr17:80,821,870...80,949,349
Ensembl chr17:80,822,556...80,949,345 		JBrowse link
G Mn1 MN1 proto-oncogene, transcriptional regulator ISO DNA:translocation RGD PMID:16398473 PMID:7731706 RGD:1624321, RGD:1600423 NCBI chr12:45,184,060...45,220,102
Ensembl chr12:45,183,085...45,221,651 		JBrowse link
G Mtrr 5-methyltetrahydrofolate-homocysteine methyltransferase reductase susceptibility ISO DNA:SNP: :66A>G, (rs1801394) (human) RGD PMID:18483342 RGD:5508186 NCBI chr 1:34,866,991...34,899,425
Ensembl chr 1:34,867,089...34,899,425 		JBrowse link
G Nf2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor ISO ClinVar Annotator: match by term: Meningioma
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by null		 ClinVar
CTD
RGD		 PMID:7868131 PMID:8162072 PMID:8379998 PMID:8882871 PMID:9643284 More... RGD:1624321 NCBI chr14:79,627,399...79,710,709
Ensembl chr14:79,627,399...79,710,667 		JBrowse link
G Pdgfb platelet derived growth factor subunit B ISO ClinVar Annotator: match by null ClinVar PMID:2212004 PMID:3133569 PMID:3969118 NCBI chr 7:111,539,444...111,557,984
Ensembl chr 7:111,540,345...111,557,984 		JBrowse link
G Pgr progesterone receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:8008172 PMID:19731987 PMID:19747051 NCBI chr 8:6,073,216...6,131,552
Ensembl chr 8:6,072,673...6,131,344 		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:17873882 PMID:19340001 PMID:19458356 PMID:19829307 More... NCBI chr 1:230,631,303...230,696,754
Ensembl chr 1:230,630,338...230,696,838 		JBrowse link
G Smo smoothened, frizzled class receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:23334667 NCBI chr 4:58,344,101...58,372,828
Ensembl chr 4:58,343,529...58,373,829 		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 OMIM:614261		 OMIM
ClinVar		 PMID:18414213 PMID:21271646 PMID:21815250 PMID:23542699 PMID:25326635 More... NCBI chr 4:116,055,563...116,083,563
Ensembl chr 4:116,056,057...116,080,543 		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 NCBI chr 5:139,633,324...139,635,857
Ensembl chr 5:139,633,287...139,635,925 		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: Multiple Cutaneous and Mucosal Venous Malformations
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:600195		 OMIM
ClinVar
CTD		 PMID:7783168 PMID:7833915 PMID:8980225 PMID:10369874 PMID:19079259 More... NCBI chr 5:109,607,077...109,733,805
Ensembl chr 5:109,607,077...109,733,804 		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 More... NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178 		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 ClinVar Annotator: match by term: Pulmonary venoocclusive disease 2, autosomal recessive
ClinVar Annotator: match by term: Familial pulmonary capillary hemangiomatosis
ClinVar Annotator: match by OMIM:234810		 OMIM
ClinVar		 PMID:24033266 PMID:24135949 PMID:24292273 PMID:25512148 PMID:25741868 More... NCBI chr 3:105,356,261...105,441,630
Ensembl chr 3:105,356,261...105,441,630 		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 2:15,834,833...15,855,643
Ensembl chr 2:15,834,833...15,855,819 		JBrowse link
G Fn1 fibronectin 1 ISO mRNA, protein:increased expression:cerebral cortex RGD PMID:12621118 RGD:1358624 NCBI chr 9:73,196,044...73,264,695
Ensembl chr 9:73,196,044...73,264,678 		JBrowse link
G Gnaq G protein subunit alpha q ISO ClinVar Annotator: match by term: Sturge-Weber syndrome
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:23656586 PMID:25188413 PMID:25741868 NCBI chr 1:213,425,631...213,671,947
Ensembl chr 1:213,424,465...213,667,672 		JBrowse link
G Mmp2 matrix metallopeptidase 2 severity ISO protein:increased expression:urine RGD PMID:23720035 RGD:13204823 NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870 		JBrowse link
G Mmp9 matrix metallopeptidase 9 severity ISO protein:increased expression:urine RGD PMID:23720035 RGD:13204823 NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120 		JBrowse link
G Rasa1 RAS p21 protein activator 1 ISO ClinVar Annotator: match by OMIM:608355
ClinVar Annotator: match by term: Parkes Weber syndrome		 ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:15,857,704...15,940,757
Ensembl chr 2:15,857,980...15,940,854 		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 5:135,623,729...135,949,097
Ensembl chr 5:135,623,742...135,945,905 		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 ClinVar Annotator: match by term: VON HIPPEL-LINDAU SYNDROME, MODIFIER OF OMIM
ClinVar		 PMID:10667569 PMID:11459873 PMID:12097293 PMID:23502783 PMID:24870244 NCBI chr 1:200,089,002...200,098,524
Ensembl chr 1:200,089,002...200,098,602 		JBrowse link
G Epas1 endothelial PAS domain protein 1 ISO protein:increased expression:kidney: RGD PMID:22299048 RGD:11041600 NCBI chr 6:7,790,236...7,871,246
Ensembl chr 6:7,790,647...7,871,228 		JBrowse link
G Mmp3 matrix metallopeptidase 3 onset ISO RGD PMID:19551141 RGD:7241233 NCBI chr 8:4,640,397...4,653,963
Ensembl chr 8:4,640,416...4,653,961 		JBrowse link
G Slc18a1 solute carrier family 18 member A1 ISO mRNA:increased expression:tumor (human) RGD PMID:16189177 RGD:5131200 NCBI chr16:20,653,268...20,687,051
Ensembl chr16:20,653,508...20,687,051 		JBrowse link
G Vhl von Hippel-Lindau tumor suppressor ISO ClinVar Annotator: match by term: Von Hippel-Lindau syndrome
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:193300		 OMIM
ClinVar
CTD		 PMID:982991 PMID:1056348 PMID:7553625 PMID:7563486 PMID:7660122 More... NCBI chr 4:146,772,483...146,779,376
Ensembl chr 4:146,772,468...146,779,377 		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 null ClinVar PMID:24375697 NCBI chr15:100,000,157...100,056,573
Ensembl chr15:100,000,152...100,056,543 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    disease of cellular proliferation 7054
      Neoplasms by Histologic Type 4778
        Vascular Tissue Neoplasms 133
          Angiofibroma 1
          Kaposi's sarcoma + 6
          angiokeratoma + 2
          glomus tumor + 2
          hemangioma + 83
          meningioma + 27
          vascular cancer + 37
Path 2
Term Annotations click to browse term
  disease 17289
    disease of anatomical entity 16625
      cardiovascular system disease 4526
        vascular disease 3440
          Vascular Tissue Neoplasms 133
            Angiofibroma 1
            Kaposi's sarcoma + 6
            angiokeratoma + 2
            glomus tumor + 2
            hemangioma + 83
            meningioma + 27
            vascular cancer + 37
paths to the root