Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources

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
go back to main search page
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


show annotations for term's descendants           Sort by:
adenomatoid tumor term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TRAF7 TNF receptor associated factor 7 ISO DNA:missense mutations:multiple RGD PMID:29148537 RGD:151356962 NCBI chr16:1,013,831...1,036,486
Ensembl chr16:2,266,194...2,279,031 		JBrowse link
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 chr18:56,481,212...56,679,012
Ensembl chr18:59,802,443...59,992,100 		JBrowse link
G IL32 interleukin 32 ISO mRNA:increased expression:zone of skin, blood serum (human) RGD PMID:29037857 RGD:150340744 NCBI chr16:2,007,018...2,023,757
Ensembl chr16:3,179,637...3,203,929 		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 chr11:60,159,009...60,166,222
Ensembl chr11:63,499,962...63,507,164 		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:90,600,412...90,610,594
Ensembl chr  X:100,732,311...100,742,280 		JBrowse link
G NAGA alpha-N-acetylgalactosaminidase ISO Kanzaki Disease, OMIM:609242, DNA:point mutation:exon:R329W RGD PMID:8040340 RGD:1600558 NCBI chr22:22,951,723...22,964,278
Ensembl chr22:41,035,622...41,046,431 		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 7:84,243,929...84,399,358
Ensembl chr 7:97,841,233...97,995,816 		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 7:84,197,200...84,244,050
Ensembl chr 7:97,794,531...97,840,895 		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:17932460 PMID:19265534 RGD:8657154 RGD:8657155 NCBI chr 3:9,702,311...9,742,283
Ensembl chr 3:9,940,955...9,947,335 		JBrowse link
G PTEN phosphatase and tensin homolog ISO protein:increased expression:kidney (human) RGD PMID:22737271 RGD:12802360 NCBI chr10:84,587,841...84,689,043
Ensembl chr10:88,093,539...88,194,605 		JBrowse link
G STAT1 signal transducer and activator of transcription 1 ISO protein:increased serine phosphorylation:kidney RGD PMID:15994429 RGD:2298537 NCBI chr2B:78,270,642...78,316,074
Ensembl chr2B:196,186,906...196,232,280 		JBrowse link
G STAT3 signal transducer and activator of transcription 3 ISO protein:increased tyrosine phosphorylation:kidney RGD PMID:15994429 RGD:2298537 NCBI chr17:14,928,689...15,003,644
Ensembl chr17:15,152,358...15,227,067 		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 chr16:615,776...655,411
Ensembl chr16:2,135,696...2,175,569 		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 chr 8:718,367...782,534
Ensembl chr 8:6,506,014...6,566,915 		JBrowse link
G CCND1 cyclin D1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17569031 NCBI chr11:64,737,006...64,750,353 JBrowse link
G COL18A1 collagen type XVIII alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:17569031 NCBI chr21:31,720,358...31,834,470 JBrowse link
G CSF3 colony stimulating factor 3 ISO CTD Direct Evidence: therapeutic CTD PMID:9774950 NCBI chr17:17,271,074...17,273,493
Ensembl chr17:17,491,276...17,493,729 		JBrowse link
G CTNNB1 catenin beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:13678655 NCBI chr 3:41,104,940...41,145,934
Ensembl chr 3:41,373,726...41,414,030 		JBrowse link
G FLT1 fms related receptor tyrosine kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17569031 NCBI chr13:9,584,850...9,779,542 JBrowse link
G GJA4 gap junction protein alpha 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17569031 NCBI chr 1:34,059,901...34,063,181 JBrowse link
G HRAS HRas proto-oncogene, GTPase ISO CTD Direct Evidence: marker/mechanism CTD PMID:10930038 NCBI chr11:537,488...540,810
Ensembl chr11:568,305...571,078 		JBrowse link
G JUN Jun proto-oncogene, AP-1 transcription factor subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:17569031 NCBI chr 1:58,042,794...58,045,536 JBrowse link
G KCNN4 potassium calcium-activated channel subfamily N member 4 ameliorates ISO human cells in mouse model
protein:increased expression:vasculature (human)		 RGD PMID:27531900 RGD:329955561 NCBI chr19:40,715,621...40,735,025
Ensembl chr19:49,321,403...49,335,900 		JBrowse link
G KDR kinase insert domain receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:17569031 NCBI chr 4:68,813,894...68,861,018
Ensembl chr 4:75,377,375...75,427,109 		JBrowse link
G KRAS KRAS proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Angiosarcoma ClinVar PMID:8456858 PMID:20147967 PMID:21371307 PMID:24740626 PMID:25157968 More... NCBI chr12:61,062,689...61,108,524
Ensembl chr12:63,679,293...63,724,335 		JBrowse link
G MED12 mediator complex subunit 12 ISO ClinVar Annotator: match by term: Angiosarcoma ClinVar PMID:26822237 NCBI chr  X:60,386,820...60,410,730
Ensembl chr  X:70,443,667...70,466,942 		JBrowse link
G MYC MYC proto-oncogene, bHLH transcription factor ISO CTD Direct Evidence: marker/mechanism
associated with neoplasms, radiation-induced; DNA:amplification: (human)		 CTD
RGD		 PMID:17569031 PMID:26440310 RGD:151665099 NCBI chr 8:124,387,561...124,393,551
Ensembl chr 8:127,131,512...127,136,863 		JBrowse link
G PLCG1 phospholipase C gamma 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24633157 NCBI chr20:37,477,077...37,515,854
Ensembl chr20:38,572,709...38,615,145 		JBrowse link
G PTPRB protein tyrosine phosphatase receptor type B ISO CTD Direct Evidence: marker/mechanism
DNA:mutation:multiple (human)
DNA:mutations:multiple (human)		 CTD
RGD		 PMID:24633157 PMID:26440310 RGD:151361292 RGD:151665099 NCBI chr12:68,025,973...68,147,613
Ensembl chr12:70,797,843...70,915,308 		JBrowse link
G STAT3 signal transducer and activator of transcription 3 ISO protein:increased phosphorylation:blood vessel RGD PMID:18700251 RGD:8694308 NCBI chr17:14,928,689...15,003,644
Ensembl chr17:15,152,358...15,227,067 		JBrowse link
G TEK TEK receptor tyrosine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:17569031 NCBI chr 9:26,955,339...27,077,809
Ensembl chr 9:27,561,421...27,683,572 		JBrowse link
G TP53 tumor protein p53 ISO CTD Direct Evidence: marker/mechanism
DNA:mutation:multiple (human)		 CTD
RGD		 PMID:10626228 PMID:10930038 PMID:13678655 PMID:20737008 PMID:26440310 RGD:151665099 NCBI chr17:7,699,449...7,717,812
Ensembl chr17:7,684,922...7,706,120 		JBrowse link
G VEGFA vascular endothelial growth factor A ISO CTD Direct Evidence: marker/mechanism CTD PMID:17569031 NCBI chr 6:43,361,053...43,377,366
Ensembl chr 6:44,650,365...44,666,353 		JBrowse link
G VEGFC vascular endothelial growth factor C ISO CTD Direct Evidence: marker/mechanism CTD PMID:17569031 NCBI chr 4:168,870,941...168,999,160
Ensembl chr 4:181,104,737...181,236,030 		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 ISO protein:increased activity:heart left ventricle (rat) RGD PMID:8386093 PMID:22768235 RGD:12859285 RGD:12880017 NCBI chr17:57,556,294...57,577,294
Ensembl chr17:62,702,341...62,733,853 		JBrowse link
G ACKR1 atypical chemokine receptor 1 (Duffy blood group) ISO RGD PMID:24429330 RGD:9681736 NCBI chr 1:134,554,406...134,557,386
Ensembl chr 1:138,352,086...138,354,733 		JBrowse link
G ANGPT2 angiopoietin 2 ISO mRNA:increased expression:lung (rat) RGD PMID:18692629 RGD:2314184 NCBI chr 8:718,367...782,534
Ensembl chr 8:6,506,014...6,566,915 		JBrowse link
G ARRB1 arrestin beta 1 ISO mRNA, protein:altered expression:left ventricle (rat) RGD PMID:22015551 RGD:5509867 NCBI chr11:70,319,935...70,411,276
Ensembl chr11:73,630,276...73,654,155 		JBrowse link
G ARRB2 arrestin beta 2 ISO mRNA, protein:altered expression:left ventricle (rat) RGD PMID:22015551 RGD:5509867 NCBI chr17:4,766,616...4,777,253
Ensembl chr17:4,757,048...4,767,517 		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 chr17:44,274,349...44,291,764
Ensembl chr17:49,150,677...49,166,677 		JBrowse link
G DES desmin ISO RGD PMID:10591032 RGD:13525010 NCBI chr2B:106,675,761...106,684,129
Ensembl chr2B:225,266,261...225,273,604 		JBrowse link
G FGF2 fibroblast growth factor 2 ISO RGD PMID:10541235 RGD:8655590 NCBI chr 4:115,005,136...115,076,369
Ensembl chr 4:126,149,813...126,214,942 		JBrowse link
G MMP2 matrix metallopeptidase 2 treatment ISO protein:increased expression:ileal vein RGD PMID:17398390 PMID:23924957 RGD:13204800 RGD:1642040 NCBI chr16:35,711,866...35,738,881
Ensembl chr16:54,812,694...54,844,279 		JBrowse link
G MMP9 matrix metallopeptidase 9 treatment ISO RGD PMID:17398390 PMID:23924957 RGD:13204800 RGD:1642040 NCBI chr20:42,346,305...42,354,018
Ensembl chr20:43,432,389...43,440,129 		JBrowse link
G NOS3 nitric oxide synthase 3 ISO protein:increased expression:vena cava RGD PMID:17344190 RGD:2292146 NCBI chr 7:142,577,334...142,600,702
Ensembl chr 7:154,730,009...154,755,233 		JBrowse link
G RBP4 retinol binding protein 4 exacerbates ISO protein:increased expression:blood serum (human) RGD PMID:33556944 RGD:329845868 NCBI chr10:90,337,879...90,347,530
Ensembl chr10:93,848,166...93,857,887 		JBrowse link
G TIMP4 TIMP metallopeptidase inhibitor 4 ISO protein:decreased expression:ileal vein RGD PMID:17398390 RGD:1642040 NCBI chr 3:12,079,195...12,087,485
Ensembl chr 3:12,425,429...12,433,192 		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 6:43,361,053...43,377,366
Ensembl chr 6:44,650,365...44,666,353 		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 chr12:36,839,869...36,856,351
Ensembl chr12:37,615,888...37,631,691 		JBrowse link
G ENG endoglin susceptibility ISO associated with Telangiectasia, Hereditary Hemorrhagic; RGD PMID:8728706 PMID:24520391 RGD:11041184 RGD:11041564 NCBI chr 9:98,934,080...98,973,862
Ensembl chr 9:127,605,608...127,644,641 		JBrowse link
G EPHB4 EPH receptor B4 ISO ClinVar Annotator: match by term: Arteriovenous malformation ClinVar PMID:25741868 PMID:28687708 PMID:30578106 PMID:30760892 NCBI chr 7:92,827,550...92,852,462
Ensembl chr 7:106,223,427...106,248,022 		JBrowse link
G GLMN glomulin, FKBP associated protein ISO glomuvenous malformations RGD PMID:11845407 RGD:1598992 NCBI chr 1:94,907,342...94,963,052
Ensembl chr 1:93,646,499...93,701,430 		JBrowse link
G MAP2 microtubule associated protein 2 ISO protein:decreased expression:hippocampus RGD PMID:20873448 RGD:6483324 NCBI chr2B:96,681,268...96,991,650
Ensembl chr2B:215,314,857...215,391,728 		JBrowse link
G MMP9 matrix metallopeptidase 9 ISO RGD PMID:16720380 RGD:1582655 NCBI chr20:42,346,305...42,354,018
Ensembl chr20:43,432,389...43,440,129 		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 5:27,980,907...28,104,368
Ensembl chr 5:28,115,159...28,240,321 		JBrowse link
G TEK TEK receptor tyrosine kinase susceptibility ISO DNA:missense mutation: :p.R849W RGD PMID:8980225 RGD:1578533 NCBI chr 9:26,955,339...27,077,809
Ensembl chr 9:27,561,421...27,683,572 		JBrowse link
arteriovenous malformations of the brain term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACVRL1 activin A receptor like type 1 ISO OMIM:108010 MouseDO NCBI chr12:36,839,869...36,856,351
Ensembl chr12:37,615,888...37,631,691 		JBrowse link
G ADGRV1 adhesion G protein-coupled receptor V1 ISO ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 NCBI chr 5:24,208,844...24,811,284
Ensembl chr 5:24,341,808...24,945,477 		JBrowse link
G BRAF B-Raf proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: Arteriovenous malformations of the brain | ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:12068308 PMID:12198537 PMID:12447372 PMID:12460918 PMID:12460919 More... NCBI chr 7:132,651,908...132,855,422
Ensembl chr 7:145,138,510...145,327,115 		JBrowse link
G CACNA1H calcium voltage-gated channel subunit alpha1 H ISO ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 PMID:28492532 Ensembl chr16:1,195,364...1,222,917 JBrowse link
G CDH2 cadherin 2 ISO ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 NCBI chr18:21,210,001...21,435,919
Ensembl chr18:24,812,019...25,008,325 		JBrowse link
G EGFR epidermal growth factor receptor ISO ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 NCBI chr 7:55,614,042...55,807,285
Ensembl chr 7:56,046,296...56,111,615 		JBrowse link
G ENG endoglin disease_progression ISO DNA:polymorphism: : 207G>A(human)
ClinVar Annotator: match by term: Cerebral arteriovenous malformation		 RGD
ClinVar		 PMID:15879500 PMID:24876084 PMID:25741868 PMID:28492532 PMID:30120215 RGD:11041171 NCBI chr 9:98,934,080...98,973,862
Ensembl chr 9:127,605,608...127,644,641 		JBrowse link
G FLT1 fms related receptor tyrosine kinase 1 ISO protein:increased expression:endothelial cell: RGD PMID:11220380 RGD:8551824 NCBI chr13:9,584,850...9,779,542 JBrowse link
G GLI2 GLI family zinc finger 2 ISO ClinVar Annotator: match by term: Arteriovenous malformations of the brain ClinVar PMID:25741868 NCBI chr2B:7,665,403...7,922,840
Ensembl chr2B:121,303,831...121,497,442 		JBrowse link
G IL17RD interleukin 17 receptor D ISO ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25636053 PMID:25741868 PMID:28492532 PMID:32389901 NCBI chr 3:57,023,622...57,098,869
Ensembl chr 3:58,240,835...58,309,409 		JBrowse link
G IL6 interleukin 6 ISO OMIM NCBI chr 7:23,415,922...23,420,767 JBrowse link
G KDR kinase insert domain receptor ISO protein:increased expression:endothelial cell: RGD PMID:11220380 RGD:8551824 NCBI chr 4:68,813,894...68,861,018
Ensembl chr 4:75,377,375...75,427,109 		JBrowse link
G KRAS KRAS proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Arteriovenous malformations of the brain
ClinVar Annotator: match by term: Arteriovenous malformations of the brain | ClinVar Annotator: match by term: Cerebral arteriovenous malformation		 OMIM
ClinVar		 PMID:2278970 PMID:3122217 PMID:7773929 PMID:8439212 PMID:12110640 More... NCBI chr12:61,062,689...61,108,524
Ensembl chr12:63,679,293...63,724,335 		JBrowse link
G LEMD3 LEM domain containing 3 ISO ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 NCBI chr12:23,668,368...23,747,369
Ensembl chr12:24,172,749...24,252,314 		JBrowse link
G MAP4K4 mitogen-activated protein kinase kinase kinase kinase 4 ISO ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 Ensembl chr2A:102,750,221...102,945,263 JBrowse link
G NLRP3 NLR family pyrin domain containing 3 ISO ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar NCBI chr 1:223,052,307...223,084,736
Ensembl chr 1:228,505,147...228,537,216 		JBrowse link
G NOTCH4 notch receptor 4 ISO ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 PMID:27231971 NCBI chr 6:31,842,233...31,871,412
Ensembl chr 6:32,722,112...32,750,978 		JBrowse link
G PDCD10 programmed cell death 10 ISO ClinVar Annotator: match by term: Arteriovenous malformations of the brain ClinVar PMID:9536098 PMID:16329096 PMID:17576681 PMID:24466005 PMID:25122144 More... NCBI chr 3:164,703,909...164,755,085
Ensembl chr 3:172,760,923...172,811,430 		JBrowse link
G PITPNM3 PITPNM family member 3 ISO ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 NCBI chr17:6,492,567...6,595,645
Ensembl chr17:6,481,590...6,584,379 		JBrowse link
G PREX2 phosphatidylinositol-3,4,5-trisphosphate dependent Rac exchange factor 2 ISO ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 NCBI chr 8:64,489,817...64,769,602
Ensembl chr 8:66,215,974...66,430,138 		JBrowse link
G SARS1 seryl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 NCBI chr 1:111,590,850...111,615,068
Ensembl chr 1:110,755,054...110,779,704 		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 chr11:9,146,533...9,219,816
Ensembl chr11:8,888,668...8,959,677 		JBrowse link
G SYN3 synapsin III ISO ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 NCBI chr22:13,517,932...14,069,661
Ensembl chr22:31,373,604...31,866,798 		JBrowse link
G TIMP3 TIMP metallopeptidase inhibitor 3 ISO ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 NCBI chr22:13,811,297...13,872,799
Ensembl chr22:31,662,562...31,723,964 		JBrowse link
G VEGFA vascular endothelial growth factor A ISO RGD PMID:16388189 RGD:1580567 NCBI chr 6:43,361,053...43,377,366
Ensembl chr 6:44,650,365...44,666,353 		JBrowse link
G ZFYVE16 zinc finger FYVE-type containing 16 ISO ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar PMID:25741868 NCBI chr 5:34,837,410...34,910,416
Ensembl chr 5:35,111,723...35,183,028 		JBrowse link
Bannayan-Riley-Ruvalcaba syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EGFR epidermal growth factor receptor ISO ClinVar Annotator: match by term: Cowden syndrome 1 ClinVar NCBI chr 7:55,614,042...55,807,285
Ensembl chr 7:56,046,296...56,111,615 		JBrowse link
G KLLN killin, p53 regulated DNA replication inhibitor ISO ClinVar Annotator: match by term: Cowden syndrome 1 ClinVar PMID:2338203 PMID:12844284 PMID:16773562 PMID:17427195 PMID:21194675 More... NCBI chr10:84,581,971...84,587,420 JBrowse link
G PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha ISO ClinVar Annotator: match by term: Cowden syndrome 1 ClinVar PMID:15016963 PMID:15254419 PMID:15520168 PMID:15647370 PMID:15805248 More... NCBI chr 3:176,182,765...176,272,024
Ensembl chr 3:184,355,785...184,441,977 		JBrowse link
G PTEN phosphatase and tensin homolog ISO ClinVar Annotator: match by term: Bannayan-Riley-Ruvalcaba syndrome | ClinVar Annotator: match by term: Cowden syndrome 1 OMIM
ClinVar		 PMID:1097835 PMID:1336932 PMID:1945792 PMID:2333580 PMID:2338203 More... NCBI chr10:84,587,841...84,689,043
Ensembl chr10:88,093,539...88,194,605 		JBrowse link
G SDHB succinate dehydrogenase complex iron sulfur subunit B ISO ClinVar Annotator: match by term: Cowden syndrome 1 ClinVar PMID:19802898 PMID:20923864 PMID:21979946 PMID:23072324 PMID:23512077 More... NCBI chr 1:15,962,383...15,998,056
Ensembl chr 1:17,018,542...17,054,509 		JBrowse link
breast angiosarcoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KDR kinase insert domain receptor ISO DNA:mutation:multiple (human) RGD PMID:32123305 RGD:151665102 NCBI chr 4:68,813,894...68,861,018
Ensembl chr 4:75,377,375...75,427,109 		JBrowse link
G PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha ISO DNA:mutation:multiple (human) RGD PMID:32123305 RGD:151665102 NCBI chr 3:176,182,765...176,272,024
Ensembl chr 3:184,355,785...184,441,977 		JBrowse link
G PTPRB protein tyrosine phosphatase receptor type B ISO DNA:mutation:multiple (human) RGD PMID:32123305 RGD:151665102 NCBI chr12:68,025,973...68,147,613
Ensembl chr12:70,797,843...70,915,308 		JBrowse link
capillary hemangioma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AKT3 AKT serine/threonine kinase 3 ISO ClinVar Annotator: match by term: Capillary hemangioma ClinVar PMID:22729224 PMID:23745724 PMID:24705253 PMID:25741868 PMID:28492532 More... NCBI chr 1:219,107,482...219,463,140
Ensembl chr 1:224,480,784...224,824,838 		JBrowse link
G CCN1 cellular communication network factor 1 disease_progression ISO mRNA:increased expression:skin (human) RGD PMID:33587560 RGD:329845523 NCBI chr 1:118,138,739...118,141,681
Ensembl chr 1:86,994,296...86,997,147 		JBrowse link
G NPC1 NPC intracellular cholesterol transporter 1 ISO ClinVar Annotator: match by term: Capillary hemangioma ClinVar PMID:25741868 NCBI chr18:16,783,096...16,838,301
Ensembl chr18:20,409,040...20,463,623 		JBrowse link
Capillary Malformation-Arteriovenous Malformation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CCNH cyclin H ISO ClinVar Annotator: match by term: Capillary malformation-arteriovenous malformation | ClinVar Annotator: match by term: Capillary malformation-arteriovenous malformation syndrome ClinVar PMID:9536098 PMID:14639529 PMID:16199547 PMID:17576681 PMID:18363760 More... NCBI chr 5:27,958,859...27,995,815
Ensembl chr 5:28,094,064...28,116,149 		JBrowse link
G EPHB4 EPH receptor B4 ISO ClinVar Annotator: match by term: Capillary malformation-arteriovenous malformation syndrome ClinVar PMID:25741868 NCBI chr 7:92,827,550...92,852,462
Ensembl chr 7:106,223,427...106,248,022 		JBrowse link
G RASA1 RAS p21 protein activator 1 susceptibility ISO DNA:mutations:multiple (human)
ClinVar Annotator: match by term: Capillary malformation-arteriovenous malformation | ClinVar Annotator: match by term: Capillary malformation-arteriovenous malformation syndrome		 RGD
ClinVar		 PMID:9536098 PMID:14639529 PMID:16199547 PMID:17576681 PMID:18363760 More... RGD:734495 NCBI chr 5:27,980,907...28,104,368
Ensembl chr 5:28,115,159...28,240,321 		JBrowse link
G STAMBP STAM binding protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:23542699 NCBI chr2A:73,900,128...73,936,571
Ensembl chr2A:75,410,434...75,451,086 		JBrowse link
Capillary Malformation-Arteriovenous Malformation 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CCNH cyclin H ISO ClinVar Annotator: match by term: CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 1 | ClinVar Annotator: match by term: Capillary malformation-arteriovenous malformation 1 ClinVar PMID:14639529 PMID:16199547 PMID:18363760 PMID:18446851 PMID:23164092 More... NCBI chr 5:27,958,859...27,995,815
Ensembl chr 5:28,094,064...28,116,149 		JBrowse link
G KRAS KRAS proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Capillary malformation-arteriovenous malformation 1 ClinVar PMID:2278970 PMID:3122217 PMID:7773929 PMID:8439212 PMID:12460918 More... NCBI chr12:61,062,689...61,108,524
Ensembl chr12:63,679,293...63,724,335 		JBrowse link
G RASA1 RAS p21 protein activator 1 ISO ClinVar Annotator: match by term: CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 1 | ClinVar Annotator: match by term: Capillary malformation-arteriovenous malformation 1 OMIM
ClinVar		 PMID:14639529 PMID:16199547 PMID:18363760 PMID:18446851 PMID:22200646 More... NCBI chr 5:27,980,907...28,104,368
Ensembl chr 5:28,115,159...28,240,321 		JBrowse link
Capillary Malformation-Arteriovenous Malformation 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EPHB4 EPH receptor B4 ISO ClinVar Annotator: match by term: Capillary malformation-arteriovenous malformation 2 | ClinVar Annotator: match by term: EPHB4-related condition | ClinVar Annotator: match by term: EPHB4-related disorders OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:21348050 PMID:25741868 More... NCBI chr 7:92,827,550...92,852,462
Ensembl chr 7:106,223,427...106,248,022 		JBrowse link
G SLC12A9 solute carrier family 12 member 9 ISO ClinVar Annotator: match by term: Capillary malformation-arteriovenous malformation 2 ClinVar PMID:25741868 PMID:28492532 PMID:28687708 NCBI chr 7:92,877,655...92,891,957
Ensembl chr 7:106,288,530...106,294,968
Ensembl chr 7:106,288,530...106,294,968 		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 chr 7:45,714,413...45,791,016
Ensembl chr 7:45,808,145...45,858,828 		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 7:84,197,200...84,244,050
Ensembl chr 7:97,794,531...97,840,895 		JBrowse link
G PDCD10 programmed cell death 10 ISO ClinVar Annotator: match by term: Cavernous hemangioma ClinVar PMID:9536098 PMID:16329096 PMID:17576681 PMID:24466005 PMID:25122144 More... NCBI chr 3:164,703,909...164,755,085
Ensembl chr 3:172,760,923...172,811,430 		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 PMID:25741868 PMID:26467025 PMID:28492532 PMID:31371350 PMID:31627758 NCBI chr 5:34,663,210...34,689,467
Ensembl chr 5:34,938,548...34,967,003 		JBrowse link
G KMT2D lysine methyltransferase 2D ISO ClinVar Annotator: match by term: Cavernous sinus meningioma ClinVar PMID:21671394 PMID:22126750 PMID:28492532 NCBI chr12:39,689,463...39,731,904
Ensembl chr12:40,575,083...40,608,661 		JBrowse link
G MSH3 mutS homolog 3 ISO ClinVar Annotator: match by term: Cavernous sinus meningioma ClinVar PMID:25741868 PMID:26467025 PMID:28492532 PMID:31371350 PMID:31627758 NCBI chr 5:34,408,469...34,663,483
Ensembl chr 5:34,719,322...34,938,469 		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 5:27,958,859...27,995,815
Ensembl chr 5:28,094,064...28,116,149 		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 5:27,980,907...28,104,368
Ensembl chr 5:28,115,159...28,240,321 		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 3:10,077,630...10,089,499
Ensembl chr 3:10,430,143...10,440,234 		JBrowse link
cerebral cavernous malformation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AKAP9 A-kinase anchoring protein 9 ISO ClinVar Annotator: match by term: Cerebral cavernous malformation ClinVar NCBI chr 7:83,942,590...84,108,648
Ensembl chr 7:97,540,356...97,705,608 		JBrowse link
G ANKIB1 ankyrin repeat and IBR domain containing 1 ISO ClinVar Annotator: match by term: Cerebral cavernous malformation ClinVar PMID:25741868 NCBI chr 7:84,243,929...84,399,358
Ensembl chr 7:97,841,233...97,995,816 		JBrowse link
G CCM2 CCM2 scaffold protein ISO ClinVar Annotator: match by term: Cerebral cavernous malformation ClinVar PMID:25525273 PMID:25741868 PMID:28492532 NCBI chr 7:45,714,413...45,791,016
Ensembl chr 7:45,808,145...45,858,828 		JBrowse link
G CYP51A1 cytochrome P450 family 51 subfamily A member 1 ISO ClinVar Annotator: match by term: Cerebral cavernous malformation ClinVar NCBI chr 7:84,110,130...84,132,870
Ensembl chr 7:97,708,806...97,729,824 		JBrowse link
G FLT1 fms related receptor tyrosine kinase 1 ISO protein:increased expression:endothelial cell: RGD PMID:11220380 RGD:8551824 NCBI chr13:9,584,850...9,779,542 JBrowse link
G KDR kinase insert domain receptor ISO protein:increased expression:endothelial cell: RGD PMID:11220380 RGD:8551824 NCBI chr 4:68,813,894...68,861,018
Ensembl chr 4:75,377,375...75,427,109 		JBrowse link
G KRIT1 KRIT1 ankyrin repeat containing susceptibility ISO ClinVar Annotator: match by term: Cavernous Hemangioma of Brain | ClinVar Annotator: match by term: Cerebral cavernous malformation | ClinVar Annotator: match by term: Cerebral cavernous malformations RGD
ClinVar		 PMID:3393196 PMID:7898703 PMID:9065560 PMID:9536098 PMID:10508515 More... RGD:1598379 NCBI chr 7:84,197,200...84,244,050
Ensembl chr 7:97,794,531...97,840,895 		JBrowse link
G LRRD1 leucine rich repeats and death domain containing 1 ISO ClinVar Annotator: match by term: Cerebral cavernous malformation ClinVar NCBI chr 7:84,142,698...84,176,943
Ensembl chr 7:97,738,096...97,774,111 		JBrowse link
G NOTCH3 notch receptor 3 ISO ClinVar Annotator: match by term: Cerebral cavernous malformation ClinVar PMID:25741868 PMID:28492532 NCBI chr19:14,692,571...14,733,758
Ensembl chr19:15,678,674...15,715,080 		JBrowse link
G PDCD10 programmed cell death 10 ISO ClinVar Annotator: match by term: Cavernous Hemangioma of Brain | ClinVar Annotator: match by term: Cerebral cavernous malformation ClinVar PMID:15543491 PMID:18035376 PMID:18300272 PMID:23485406 PMID:23595507 More... NCBI chr 3:164,703,909...164,755,085
Ensembl chr 3:172,760,923...172,811,430 		JBrowse link
G PON1 paraoxonase 1 susceptibility ISO DNA:missense mutations:cds:p.L55M, p.Q192R (human) RGD PMID:26122242 RGD:11552573 NCBI chr 7:87,253,476...87,279,650
Ensembl chr 7:100,841,286...100,867,493 		JBrowse link
G PTEN phosphatase and tensin homolog ISO protein:decreased expression:brain (human) RGD PMID:19061355 RGD:12859036 NCBI chr10:84,587,841...84,689,043
Ensembl chr10:88,093,539...88,194,605 		JBrowse link
G SERPINI1 serpin family I member 1 ISO ClinVar Annotator: match by term: Cavernous Hemangioma of Brain | ClinVar Annotator: match by term: Cerebral cavernous malformation ClinVar PMID:25741868 NCBI chr 3:164,755,803...164,845,572
Ensembl chr 3:172,865,891...172,902,372 		JBrowse link
cerebral cavernous malformation 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KRIT1 KRIT1 ankyrin repeat containing ISO ClinVar Annotator: match by term: Cerebral cavernous malformation 1 | ClinVar Annotator: match by term: Cerebral cavernous malformations 1 | ClinVar Annotator: match by term: KRIT1-Related Disorders OMIM
ClinVar		 PMID:3393196 PMID:7898703 PMID:9065560 PMID:10508515 PMID:10545614 More... NCBI chr 7:84,197,200...84,244,050
Ensembl chr 7:97,794,531...97,840,895 		JBrowse link
G PDCD10 programmed cell death 10 ISO ClinVar Annotator: match by term: Cerebral cavernous malformation 1 ClinVar PMID:25741868 NCBI chr 3:164,703,909...164,755,085
Ensembl chr 3:172,760,923...172,811,430 		JBrowse link
G PTGIS prostaglandin I2 synthase exacerbates ISO DNA:silent mutation:CDS:p.L256L (rs5628) (human) RGD PMID:26795600 RGD:401960081 NCBI chr20:45,841,238...45,905,641
Ensembl chr20:46,905,665...46,971,612 		JBrowse link
cerebral cavernous malformation 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CCM2 CCM2 scaffold protein ISO ClinVar Annotator: match by term: Cerebral cavernous malformation 2 OMIM
ClinVar		 PMID:2468908 PMID:9536098 PMID:14624391 PMID:14740320 PMID:15122722 More... NCBI chr 7:45,714,413...45,791,016
Ensembl chr 7:45,808,145...45,858,828 		JBrowse link
G NACAD NAC alpha domain containing ISO ClinVar Annotator: match by term: Cerebral cavernous malformation 2 ClinVar PMID:17160895 PMID:28492532 NCBI chr 7:45,794,340...45,802,532 JBrowse link
cerebral cavernous malformation 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PDCD10 programmed cell death 10 onset
exacerbates		 ISO ClinVar Annotator: match by term: Cerebral cavernous malformation 3 | ClinVar Annotator: match by term: Cerebral cavernous malformations 3
DNA:mutations:multiple (human)		 OMIM
ClinVar
RGD		 PMID:9536098 PMID:15543491 PMID:16199547 PMID:16329096 PMID:16380626 More... RGD:401827114 RGD:401827115 NCBI chr 3:164,703,909...164,755,085
Ensembl chr 3:172,760,923...172,811,430 		JBrowse link
G SERPINI1 serpin family I member 1 ISO ClinVar Annotator: match by term: Cerebral cavernous malformation 3 ClinVar NCBI chr 3:164,755,803...164,845,572
Ensembl chr 3:172,865,891...172,902,372 		JBrowse link
Cerebral Cavernous Malformation 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha ISO ClinVar Annotator: match by term: Cerebral cavernous malformation 4 OMIM
ClinVar		 PMID:25741868 NCBI chr 3:176,182,765...176,272,024
Ensembl chr 3:184,355,785...184,441,977 		JBrowse link
CEREBROFACIAL ARTERIOVENOUS METAMERIC SYNDROME term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GNA14 G protein subunit alpha 14 ISO ClinVar Annotator: match by term: Cerebrofacial arteriovenous metameric syndrome ClinVar NCBI chr 9:47,196,338...47,423,388 JBrowse link
CLAPO Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha ISO ClinVar Annotator: match by term: CLAPO syndrome | ClinVar Annotator: match by term: Capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowth OMIM
ClinVar		 PMID:15016963 PMID:15254419 PMID:15520168 PMID:15608678 PMID:15647370 More... NCBI chr 3:176,182,765...176,272,024
Ensembl chr 3:184,355,785...184,441,977 		JBrowse link
Epithelioid Hemangioendothelioma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC100972354 interferon alpha-2 ISO CTD Direct Evidence: therapeutic CTD PMID:15982392 NCBI chr 9:21,245,017...21,246,210
Ensembl chr 9:21,863,062...21,863,736 		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 chr17:57,556,294...57,577,294
Ensembl chr17:62,702,341...62,733,853 		JBrowse link
G CAND2 cullin associated and neddylation dissociated 2 (putative) ISO RGD PMID:31426861 RGD:18899564 NCBI chr 3:12,722,259...12,757,983
Ensembl chr 3:13,066,135...13,102,246 		JBrowse link
familial glomangioma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GLMN glomulin, FKBP associated protein ISO ClinVar Annotator: match by term: Familial glomangioma ClinVar PMID:11175297 PMID:11845407 PMID:15689436 PMID:23801931 PMID:24033266 More... NCBI chr 1:94,907,342...94,963,052
Ensembl chr 1:93,646,499...93,701,430 		JBrowse link
familial meningioma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KLLN killin, p53 regulated DNA replication inhibitor ISO ClinVar Annotator: match by term: Meningioma, familial, susceptibility to ClinVar PMID:25741868 PMID:27535533 NCBI chr10:84,581,971...84,587,420 JBrowse link
G MN1 MN1 proto-oncogene, transcriptional regulator ISO ClinVar Annotator: match by term: Familial meningioma ClinVar
OMIM		 PMID:25741868 NCBI chr22:8,799,832...8,854,695 JBrowse link
G NF2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor ISO ClinVar Annotator: match by term: Familial meningioma | ClinVar Annotator: match by term: Meningioma, familial, susceptibility to OMIM
ClinVar		 PMID:7759081 PMID:8012353 PMID:9466988 PMID:9536098 PMID:9931334 More... NCBI chr22:10,648,022...10,738,167
Ensembl chr22:28,454,119...28,544,013 		JBrowse link
G PDGFB platelet derived growth factor subunit B ISO ClinVar Annotator: match by term: Familial meningioma ClinVar
OMIM		 PMID:25741868 NCBI chr22:20,127,223...20,148,407
Ensembl chr22:37,944,018...37,964,883 		JBrowse link
G PTEN phosphatase and tensin homolog ISO ClinVar Annotator: match by term: Familial meningioma | ClinVar Annotator: match by term: Meningioma, familial, susceptibility to OMIM
ClinVar		 PMID:9259288 PMID:9399897 PMID:9425889 PMID:9467011 PMID:9600246 More... NCBI chr10:84,587,841...84,689,043
Ensembl chr10:88,093,539...88,194,605 		JBrowse link
G SCHIP1 schwannomin interacting protein 1 ISO ClinVar Annotator: match by term: Familial meningioma ClinVar PMID:25741915 NCBI chr 3:156,307,829...156,919,728
Ensembl chr 3:164,837,723...164,968,769 		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: Familial meningioma | ClinVar Annotator: match by term: Meningioma, familial, susceptibility to OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:22426308 PMID:23377182 More... NCBI chr17:16,633,982...16,660,502
Ensembl chr17:16,860,400...16,884,946 		JBrowse link
G SUFU SUFU negative regulator of hedgehog signaling ISO ClinVar Annotator: match by term: Familial meningioma | ClinVar Annotator: match by term: Meningioma, familial, susceptibility to ClinVar
OMIM		 PMID:21188540 PMID:22508808 PMID:22958902 PMID:23826113 PMID:24728327 More... NCBI chr10:99,107,516...99,231,761
Ensembl chr10:102,571,886...102,696,472 		JBrowse link
glomangioma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GLMN glomulin, FKBP associated protein ISO ClinVar Annotator: match by term: Glomuvenous malformation | ClinVar Annotator: match by term: Glomuvenous malformations OMIM
ClinVar		 PMID:11175297 PMID:11845407 PMID:15689436 PMID:23375657 PMID:23801931 More... NCBI chr 1:94,907,342...94,963,052
Ensembl chr 1:93,646,499...93,701,430 		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 1:94,907,342...94,963,052
Ensembl chr 1:93,646,499...93,701,430 		JBrowse link
hemangioblastoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CXCR4 C-X-C motif chemokine receptor 4 ISO mRNA,protein:increased expression:temporal lobe : RGD PMID:27388534 RGD:155641257 NCBI chr2B:23,744,271...23,748,106
Ensembl chr2B:140,181,829...140,189,647 		JBrowse link
G DLL4 delta like canonical Notch ligand 4 ISO mRNA,protein:increased expression:temporal lobe : RGD PMID:27388534 RGD:155641257 NCBI chr15:19,871,584...19,881,817
Ensembl chr15:38,121,574...38,129,471 		JBrowse link
G HEY1 hes related family bHLH transcription factor with YRPW motif 1 ISO mRNA,protein:increased expression:temporal lobe : RGD PMID:27388534 RGD:155641257 NCBI chr 8:76,286,433...76,290,507
Ensembl chr 8:77,913,761...77,921,201 		JBrowse link
G HIF1A hypoxia inducible factor 1 subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:15341671 NCBI chr14:42,295,691...42,348,478
Ensembl chr14:60,552,374...60,604,885 		JBrowse link
G NDRG1 N-myc downstream regulated 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15341671 NCBI chr 8:129,891,918...129,952,489
Ensembl chr 8:132,866,245...132,926,514 		JBrowse link
G NOTCH4 notch receptor 4 ISO mRNA,protein:increased expression:temporal lobe : RGD PMID:27388534 RGD:155641257 NCBI chr 6:31,842,233...31,871,412
Ensembl chr 6:32,722,112...32,750,978 		JBrowse link
hemangioma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FOXO1 forkhead box O1 ISO RGD PMID:17254969 RGD:155630604 NCBI chr13:21,763,729...21,874,279 JBrowse link
G FOXO3 forkhead box O3 ISO RGD PMID:17254969 RGD:155630604 NCBI chr 6:106,360,519...106,485,676
Ensembl chr 6:110,406,266...110,516,272 		JBrowse link
G FOXO4 forkhead box O4 ISO RGD PMID:17254969 RGD:155630604 NCBI chr  X:60,364,466...60,372,147
Ensembl chr  X:70,422,504...70,429,971 		JBrowse link
G FOXP1 forkhead box P1 ISO ClinVar Annotator: match by term: Glabellar hemangioma ClinVar PMID:25741868 NCBI chr 3:70,893,933...71,523,892
Ensembl chr 3:72,258,456...72,498,173 		JBrowse link
G IDH1 isocitrate dehydrogenase (NADP(+)) 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22057234 NCBI chr2B:95,475,320...95,494,286
Ensembl chr2B:213,599,036...213,617,175 		JBrowse link
G IDH2 isocitrate dehydrogenase (NADP(+)) 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22057234 NCBI chr15:68,771,050...68,790,523
Ensembl chr15:87,972,889...87,991,276 		JBrowse link
G MMP2 matrix metallopeptidase 2 ISO RGD PMID:19821096 RGD:8657063 NCBI chr16:35,711,866...35,738,881
Ensembl chr16:54,812,694...54,844,279 		JBrowse link
G NOTCH1 notch receptor 1 ISO ClinVar Annotator: match by term: Hemangioma ClinVar PMID:25741868 NCBI chr 9:107,568,670...107,621,032
Ensembl chr 9:136,544,639...136,598,740 		JBrowse link
G PTEN phosphatase and tensin homolog ISO ClinVar Annotator: match by term: Hemangioma ClinVar PMID:9467011 PMID:21194675 PMID:28492532 NCBI chr10:84,587,841...84,689,043
Ensembl chr10:88,093,539...88,194,605 		JBrowse link
G SLC2A1 solute carrier family 2 member 1 ISO RGD PMID:10665907 RGD:12879499 NCBI chr 1:42,224,273...42,257,184
Ensembl chr 1:43,600,733...43,634,143 		JBrowse link
G SRD5A3 steroid 5 alpha-reductase 3 ISO ClinVar Annotator: match by term: Hemangioma ClinVar PMID:25741868 PMID:28492532 NCBI chr 4:68,565,400...68,591,400
Ensembl chr 4:75,131,196...75,155,347 		JBrowse link
G TSC2 TSC complex subunit 2 ISO RGD PMID:10096549 RGD:11568655 NCBI chr16:615,776...655,411
Ensembl chr16:2,135,696...2,175,569 		JBrowse link
G YAP1 Yes1 associated transcriptional regulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:31351048 NCBI chr11:97,061,367...97,186,961
Ensembl chr11:100,552,424...100,681,301 		JBrowse link
hemangioma of liver term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GJA4 gap junction protein alpha 4 ISO ClinVar Annotator: match by term: Hepatic hemangioma ClinVar PMID:33912852 NCBI chr 1:34,059,901...34,063,181 JBrowse link
hemangiopericytoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DLL4 delta like canonical Notch ligand 4 ISO mRNA,protein:increased expression:anterior temporal lobe RGD PMID:26951238 RGD:155663351 NCBI chr15:19,871,584...19,881,817
Ensembl chr15:38,121,574...38,129,471 		JBrowse link
G EPHB4 EPH receptor B4 ISO mRNA,protein:decreased expression:anterior temporal lobe RGD PMID:26951238 RGD:155663351 NCBI chr 7:92,827,550...92,852,462
Ensembl chr 7:106,223,427...106,248,022 		JBrowse link
G HES1 hes family bHLH transcription factor 1 ISO mRNA:increased expression:anterior temporal lobe RGD PMID:26951238 RGD:155663351 NCBI chr 3:191,432,513...191,435,387
Ensembl chr 3:201,749,044...201,754,257 		JBrowse link
G HEY1 hes related family bHLH transcription factor with YRPW motif 1 ISO mRNA,protein:increased expression:anterior temporal lobe RGD PMID:26951238 RGD:155663351 NCBI chr 8:76,286,433...76,290,507
Ensembl chr 8:77,913,761...77,921,201 		JBrowse link
G HEY2 hes related family bHLH transcription factor with YRPW motif 2 ISO mRNA:increased expression:anterior temporal lobe RGD PMID:26951238 RGD:155663351 NCBI chr 6:123,527,180...123,538,794
Ensembl chr 6:127,647,547...127,659,056 		JBrowse link
G KDR kinase insert domain receptor ISO mRNA:increased expression:anterior temporal lobe RGD PMID:26951238 RGD:155663351 NCBI chr 4:68,813,894...68,861,018
Ensembl chr 4:75,377,375...75,427,109 		JBrowse link
G NOTCH1 notch receptor 1 ISO mRNA,protein:increased expression:anterior temporal lobe RGD PMID:26951238 RGD:155663351 NCBI chr 9:107,568,670...107,621,032
Ensembl chr 9:136,544,639...136,598,740 		JBrowse link
G NOTCH4 notch receptor 4 ISO mRNA,protein:increased expression:anterior temporal lobe RGD PMID:26951238 RGD:155663351 NCBI chr 6:31,842,233...31,871,412
Ensembl chr 6:32,722,112...32,750,978 		JBrowse link
G PTEN phosphatase and tensin homolog ISO protein:decreased expression:anterior temporal lobe RGD PMID:26951238 RGD:155663351 NCBI chr10:84,587,841...84,689,043
Ensembl chr10:88,093,539...88,194,605 		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 chr16:615,776...655,411
Ensembl chr16:2,135,696...2,175,569 		JBrowse link
Infantile Capillary Hemangioma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANTXR1 ANTXR cell adhesion molecule 1 susceptibility ISO ClinVar Annotator: match by term: Capillary infantile hemangioma ClinVar
OMIM		 PMID:18931684 PMID:25741868 PMID:28492532 NCBI chr2A:69,054,253...69,290,554
Ensembl chr2A:70,175,982...70,412,454 		JBrowse link
G CCNH cyclin H ISO ClinVar Annotator: match by term: Capillary infantile hemangioma ClinVar PMID:25741868 NCBI chr 5:27,958,859...27,995,815
Ensembl chr 5:28,094,064...28,116,149 		JBrowse link
G FAT4 FAT atypical cadherin 4 ISO ClinVar Annotator: match by term: Capillary infantile hemangioma ClinVar PMID:25741868 PMID:28492532 NCBI chr 4:117,494,842...117,674,382
Ensembl chr 4:128,637,516...128,814,407 		JBrowse link
G FLT4 fms related receptor tyrosine kinase 4 ISO ClinVar Annotator: match by term: Capillary infantile hemangioma OMIM
ClinVar		 PMID:11807987 PMID:25741868 PMID:28492532 NCBI chr 5:175,804,728...175,852,703
Ensembl chr 5:183,115,856...183,149,006 		JBrowse link
G KDR kinase insert domain receptor susceptibility ISO ClinVar Annotator: match by term: Capillary infantile hemangioma ClinVar
OMIM		 PMID:11807987 PMID:18931684 PMID:24033266 PMID:24728327 PMID:25741868 NCBI chr 4:68,813,894...68,861,018
Ensembl chr 4:75,377,375...75,427,109 		JBrowse link
G MYH9 myosin heavy chain 9 ISO ClinVar Annotator: match by term: Capillary infantile hemangioma ClinVar PMID:28492532 NCBI chr22:17,200,623...17,305,826
Ensembl chr22:35,039,101...35,121,618 		JBrowse link
G RASA1 RAS p21 protein activator 1 ISO ClinVar Annotator: match by term: Capillary infantile hemangioma ClinVar PMID:25741868 NCBI chr 5:27,980,907...28,104,368
Ensembl chr 5:28,115,159...28,240,321 		JBrowse link
G SLC2A1 solute carrier family 2 member 1 ISO RGD PMID:17554865 RGD:12879502 NCBI chr 1:42,224,273...42,257,184
Ensembl chr 1:43,600,733...43,634,143 		JBrowse link
G VEGFA vascular endothelial growth factor A disease_progression ISO RGD PMID:26957058 RGD:155663370 NCBI chr 6:43,361,053...43,377,366
Ensembl chr 6:44,650,365...44,666,353 		JBrowse link
Kaposi's sarcoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BPTF bromodomain PHD finger transcription factor ISO ClinVar Annotator: match by term: Kaposi sarcoma ClinVar PMID:28492532 NCBI chr17:61,759,241...61,917,343
Ensembl chr17:66,956,594...67,109,428 		JBrowse link
G FGFR2 fibroblast growth factor receptor 2 ISO mRNA:increased expression:zone of skin (human) RGD PMID:18804962 RGD:155663668 NCBI chr10:118,055,854...118,175,440
Ensembl chr10:121,469,735...121,588,815 		JBrowse link
G IL6 interleukin 6 ISO ClinVar Annotator: match by term: Kaposi's sarcoma ClinVar
OMIM		 PMID:9769329 PMID:10720087 PMID:11001912 PMID:11889177 PMID:12519862 More... NCBI chr 7:23,415,922...23,420,767 JBrowse link
G PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma treatment ISO RGD PMID:21665152 RGD:38599159 NCBI chr 7:98,841,974...98,885,446
Ensembl chr 7:111,570,148...111,611,614 		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 4:115,005,136...115,076,369
Ensembl chr 4:126,149,813...126,214,942 		JBrowse link
G GNA14 G protein subunit alpha 14 ISO ClinVar Annotator: match by term: Kaposiform hemangioendothelioma ClinVar PMID:25741868 PMID:27476652 NCBI chr 9:47,196,338...47,423,388 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 1:9,871,700...10,028,704
Ensembl chr 1:11,093,765...11,249,841 		JBrowse link
lymphangioleiomyomatosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACSS2 acyl-CoA synthetase short chain family member 2 ISO protein:increased expression:lung (human) RGD PMID:29885404 RGD:152995523 NCBI chr20:31,205,104...31,256,263
Ensembl chr20:32,329,721...32,380,526 		JBrowse link
G CPT1A carnitine palmitoyltransferase 1A ISO protein:increased expression:lung (human) RGD PMID:29885404 RGD:152995523 NCBI chr11:63,841,028...63,928,242
Ensembl chr11:67,144,736...67,205,481 		JBrowse link
G ESR1 estrogen receptor 1 ISO RGD PMID:18285421 RGD:4892300 NCBI chr 6:149,507,599...149,918,523
Ensembl chr 6:154,317,002...154,631,551 		JBrowse link
G GAPDH glyceraldehyde-3-phosphate dehydrogenase ISO protein:increased expression:lung (human) RGD PMID:29885404 RGD:152995523 NCBI chr12:6,665,218...6,669,170
Ensembl chr12:6,583,895...6,587,729 		JBrowse link
G GLS glutaminase ISO protein:increased expression:lung (human) RGD PMID:29885404 RGD:152995523 NCBI chr2B:78,182,117...78,267,071
Ensembl chr2B:196,098,910...196,183,323 		JBrowse link
G HES1 hes family bHLH transcription factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20038814 NCBI chr 3:191,432,513...191,435,387
Ensembl chr 3:201,749,044...201,754,257 		JBrowse link
G JAG2 jagged canonical Notch ligand 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20038814 NCBI chr14:85,785,586...85,812,056
Ensembl chr14:105,569,837...105,585,878 		JBrowse link
G MMP3 matrix metallopeptidase 3 treatment ISO RGD PMID:23035046 RGD:8693678 NCBI chr11:97,776,729...97,784,549
Ensembl chr11:101,267,566...101,275,354 		JBrowse link
G MMP9 matrix metallopeptidase 9 ISO protein:increased expression:serum, plasma RGD PMID:18760908 RGD:5129697 NCBI chr20:42,346,305...42,354,018
Ensembl chr20:43,432,389...43,440,129 		JBrowse link
G NOS3 nitric oxide synthase 3 ISO protein:increased expression:lung RGD PMID:11306434 RGD:4892080 NCBI chr 7:142,577,334...142,600,702
Ensembl chr 7:154,730,009...154,755,233 		JBrowse link
G NTHL1 nth like DNA glycosylase 1 ISO ClinVar Annotator: match by term: Lymphangiomyomatosis ClinVar PMID:25741868 PMID:28492532 NCBI chr16:655,433...663,521
Ensembl chr16:2,127,858...2,135,656 		JBrowse link
G PKD1 polycystin 1, transient receptor potential channel interacting ISO ClinVar Annotator: match by term: Lymphangiomyomatosis ClinVar PMID:25741868 NCBI chr16:604,366...605,560 JBrowse link
G PKM pyruvate kinase M1/2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:32078667 NCBI chr15:51,149,584...51,182,193
Ensembl chr15:69,913,455...69,945,832 		JBrowse link
G RICTOR RPTOR independent companion of MTOR complex 2 ISO protein:increased expression:lung (human) RGD PMID:29885404 RGD:152995523 NCBI chr 5:71,299,215...71,435,290
Ensembl chr 5:76,389,130...76,469,830 		JBrowse link
G SLC16A1 solute carrier family 16 member 1 ISO protein:increased expression:lung (human) RGD PMID:29885404 RGD:152995523 NCBI chr 1:115,555,561...115,600,302
Ensembl chr 1:124,755,250...124,800,032 		JBrowse link
G SRF serum response factor ISO RGD PMID:12654640 RGD:1580753 NCBI chr 6:42,763,099...42,773,332
Ensembl chr 6:44,057,192...44,066,768 		JBrowse link
G STAT1 signal transducer and activator of transcription 1 ISO protein:increased serine phosphorylation:lung RGD PMID:15994429 RGD:2298537 NCBI chr2B:78,270,642...78,316,074
Ensembl chr2B:196,186,906...196,232,280 		JBrowse link
G STAT3 signal transducer and activator of transcription 3 ISO protein:increased tyrosine phosphorylation:lung RGD PMID:15994429 RGD:2298537 NCBI chr17:14,928,689...15,003,644
Ensembl chr17:15,152,358...15,227,067 		JBrowse link
G TSC1 TSC complex subunit 1 ISO ClinVar Annotator: match by term: Lymphangioleiomyomatosis | ClinVar Annotator: match by term: Lymphangioleiomyomatosis, somatic | ClinVar Annotator: match by term: Lymphangiomyomatosis OMIM
ClinVar		 PMID:5279523 PMID:9242607 PMID:9328481 PMID:9536098 PMID:9803264 More... NCBI chr 9:104,007,708...104,060,938
Ensembl chr 9:132,638,003...132,675,759 		JBrowse link
G TSC2 TSC complex subunit 2 ISO ClinVar Annotator: match by term: Lymphangioleiomyomatosis | ClinVar Annotator: match by term: Lymphangioleiomyomatosis, somatic | ClinVar Annotator: match by term: Lymphangiomyomatosis OMIM
ClinVar		 PMID:5279523 PMID:8824881 PMID:9076719 PMID:9285776 PMID:9302281 More... NCBI chr16:615,776...655,411
Ensembl chr16:2,135,696...2,175,569 		JBrowse link
G VEGFD vascular endothelial growth factor D ISO CTD Direct Evidence: marker/mechanism CTD PMID:20038814 NCBI chr  X:7,972,227...8,011,263
Ensembl chr  X:15,254,945...15,293,704 		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 ISO RGD PMID:27528400 RGD:12738450 NCBI chr17:7,699,449...7,717,812
Ensembl chr17:7,684,922...7,706,120 		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 chr14:85,417,229...85,444,722
Ensembl chr14:105,208,128...105,236,756 		JBrowse link
G ALAD aminolevulinate dehydratase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16140629 NCBI chr 9:84,488,339...84,503,360
Ensembl chr 9:112,859,171...112,873,784 		JBrowse link
G BAP1 BRCA1 associated protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25231345 NCBI chr 3:52,344,067...52,352,187
Ensembl chr 3:53,573,785...53,581,943 		JBrowse link
G CST3 cystatin C ISO CTD Direct Evidence: marker/mechanism CTD PMID:19747051 NCBI chr20:23,583,043...23,587,399
Ensembl chr20:23,935,942...23,940,425 		JBrowse link
G CSTB cystatin B ISO CTD Direct Evidence: marker/mechanism CTD PMID:19747051 NCBI chr21:30,030,359...30,032,899 JBrowse link
G CTSL cathepsin L ISO CTD Direct Evidence: marker/mechanism CTD PMID:19747051 NCBI chr 9:58,851,899...58,857,170
Ensembl chr 9:86,903,006...86,908,303 		JBrowse link
G DNMT1 DNA methyltransferase 1 ISO ClinVar Annotator: match by term: Meningioma ClinVar NCBI chr19:9,681,847...9,745,334
Ensembl chr19:10,342,478...10,406,972 		JBrowse link
G EPB41L3 erythrocyte membrane protein band 4.1 like 3 ISO RGD PMID:10888600 RGD:1300356 NCBI chr18:8,656,684...8,894,170
Ensembl chr18:10,993,680...11,210,416 		JBrowse link
G GPX3 glutathione peroxidase 3 severity ISO RGD PMID:19885562 RGD:401827824 NCBI chr 5:146,447,939...146,456,476 JBrowse link
G GSTM3 glutathione S-transferase mu 3 ISO DNA: deletion: intron 6 RGD PMID:16598069 RGD:5688743 NCBI chr 1:112,380,890...112,384,988
Ensembl chr 1:127,957,008...127,960,578 		JBrowse link
G HES1 hes family bHLH transcription factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21127729 NCBI chr 3:191,432,513...191,435,387
Ensembl chr 3:201,749,044...201,754,257 		JBrowse link
G HGF hepatocyte growth factor disease_progression ISO protein:increased expression:brain: RGD PMID:12115353 RGD:8548633 NCBI chr 7:73,667,618...73,738,960
Ensembl chr 7:87,327,798...87,397,811 		JBrowse link
G KMT2D lysine methyltransferase 2D disease_progression ISO RGD PMID:26240495 RGD:155582218 NCBI chr12:39,689,463...39,731,904
Ensembl chr12:40,575,083...40,608,661 		JBrowse link
G MLLT10 MLLT10 histone lysine methyltransferase DOT1L cofactor ISO CTD Direct Evidence: marker/mechanism CTD PMID:21804547 NCBI chr10:21,686,507...21,907,247
Ensembl chr10:21,994,975...22,282,737 		JBrowse link
G MN1 MN1 proto-oncogene, transcriptional regulator ISO DNA:translocation RGD PMID:7731706 RGD:1600423 NCBI chr22:8,799,832...8,854,695 JBrowse link
G MTRR 5-methyltetrahydrofolate-homocysteine methyltransferase reductase susceptibility ISO DNA:SNP: :66A>G, (rs1801394) (human) RGD PMID:18483342 RGD:5508186 NCBI chr 5:8,195,868...8,228,071
Ensembl chr 5:8,017,403...8,049,322 		JBrowse link
G NF2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor ISO ClinVar Annotator: match by term: Meningioma ClinVar PMID:7868131 PMID:8162072 PMID:8379998 PMID:8882871 PMID:9643284 More... NCBI chr22:10,648,022...10,738,167
Ensembl chr22:28,454,119...28,544,013 		JBrowse link
G PDGFB platelet derived growth factor subunit B ISO ClinVar Annotator: match by term: Meningioma ClinVar PMID:2212004 PMID:3133569 PMID:3969118 NCBI chr22:20,127,223...20,148,407
Ensembl chr22:37,944,018...37,964,883 		JBrowse link
G PGR progesterone receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:8008172 PMID:19731987 PMID:19747051 NCBI chr11:95,997,677...96,098,866 JBrowse link
G PTEN phosphatase and tensin homolog ISO ClinVar Annotator: match by term: Meningioma ClinVar PMID:792966 PMID:12085208 PMID:17873882 PMID:19340001 PMID:19458356 More... NCBI chr10:84,587,841...84,689,043
Ensembl chr10:88,093,539...88,194,605 		JBrowse link
G SMARCB1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 ISO DNA:missense mutation, loss of heterozygosity:cds: c.143C>T (human) RGD PMID:22038540 RGD:155804288 NCBI chr22:4,542,764...4,589,461
Ensembl chr22:22,627,982...22,673,921 		JBrowse link
G SMARCE1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 ISO DNA:multiple:multiple (human)
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:29409008 PMID:35681054 RGD:151708704 NCBI chr17:16,633,982...16,660,502
Ensembl chr17:16,860,400...16,884,946 		JBrowse link
G SMO smoothened, frizzled class receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:23334667 NCBI chr 7:121,143,968...121,168,873
Ensembl chr 7:133,668,304...133,693,048 		JBrowse link
G XRCC1 X-ray repair cross complementing 1 susceptibility ISO DNA:SNP:exon 10: p.R399Q (human) RGD PMID:18330515 RGD:401827274 NCBI chr19:40,485,052...40,522,188
Ensembl chr19:49,094,014...49,125,520 		JBrowse link
G XRCC3 X-ray repair cross complementing 3 susceptibility ISO DNA:SNP:exon 8: p.T241M (rs861539) (Human) RGD PMID:18330515 RGD:401827274 NCBI chr14:84,323,644...84,341,763
Ensembl chr14:104,131,903...104,149,037 		JBrowse link
Microcephaly-Capillary Malformation Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G STAMBP STAM binding protein ISO ClinVar Annotator: match by term: Microcephaly-capillary malformation syndrome | ClinVar Annotator: match by term: STAMBP-related condition OMIM
ClinVar		 PMID:18414213 PMID:21271646 PMID:21815250 PMID:23542699 PMID:25326635 More... NCBI chr2A:73,900,128...73,936,571
Ensembl chr2A:75,410,434...75,451,086 		JBrowse link
multiple cutaneous and mucosal venous malformations term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GJA4 gap junction protein alpha 4 ISO ClinVar Annotator: match by term: Cutaneous venous malformation ClinVar PMID:33912852 NCBI chr 1:34,059,901...34,063,181 JBrowse link
G TEK TEK receptor tyrosine kinase ISO ClinVar Annotator: match by term: Multiple cutaneous and mucosal venous malformations | ClinVar Annotator: match by term: Segmental undergrowth associated with venous malformation without capillary component OMIM
ClinVar		 PMID:7783168 PMID:7833915 PMID:8415706 PMID:8980225 PMID:9926914 More... NCBI chr 9:26,955,339...27,077,809
Ensembl chr 9:27,561,421...27,683,572 		JBrowse link
pulmonary venoocclusive disease 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BMPR2 bone morphogenetic protein receptor type 2 ISO ClinVar Annotator: match by term: Familial pulmonary capillary hemangiomatosis ClinVar PMID:18626305 PMID:24292273 NCBI chr2B:89,631,622...89,823,438
Ensembl chr2B:207,780,741...207,961,072 		JBrowse link
G EIF2AK4 eukaryotic translation initiation factor 2 alpha kinase 4 ISO ClinVar Annotator: match by term: EIF2AK4-related condition | ClinVar Annotator: match by term: Familial pulmonary capillary hemangiomatosis OMIM
ClinVar		 PMID:12215525 PMID:24033266 PMID:24135949 PMID:24292273 PMID:24310610 More... NCBI chr15:18,871,867...18,973,380
Ensembl chr15:37,120,044...37,229,211 		JBrowse link
skin hemangioma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GJA4 gap junction protein alpha 4 ISO ClinVar Annotator: match by term: Skin hemangioma ClinVar PMID:33912852 NCBI chr 1:34,059,901...34,063,181 JBrowse link
Sturge-Weber syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CCNH cyclin H ISO ClinVar Annotator: match by term: Parkes Weber syndrome ClinVar PMID:24038909 PMID:25741868 PMID:27081547 PMID:28492532 PMID:28655553 More... NCBI chr 5:27,958,859...27,995,815
Ensembl chr 5:28,094,064...28,116,149 		JBrowse link
G FN1 fibronectin 1 ISO mRNA, protein:increased expression:cerebral cortex RGD PMID:12621118 RGD:1358624 NCBI chr2B:102,623,568...102,698,747
Ensembl chr2B:221,208,431...221,284,003 		JBrowse link
G LOC100986730 guanine nucleotide-binding protein G(q) subunit alpha ISO ClinVar Annotator: match by term: Sturge-Weber syndrome OMIM
ClinVar		 PMID:1328859 PMID:2549426 PMID:18719078 PMID:19078957 PMID:21083380 More... NCBI chr 9:46,816,409...47,129,116
Ensembl chr 9:76,575,815...76,773,849 		JBrowse link
G MAP2K1 mitogen-activated protein kinase kinase 1 ISO ClinVar Annotator: match by term: Parkes Weber syndrome ClinVar PMID:25741868 NCBI chr15:45,337,117...45,438,826
Ensembl chr15:63,613,961...63,714,161 		JBrowse link
G MMP2 matrix metallopeptidase 2 severity ISO protein:increased expression:urine RGD PMID:23720035 RGD:13204823 NCBI chr16:35,711,866...35,738,881
Ensembl chr16:54,812,694...54,844,279 		JBrowse link
G MMP9 matrix metallopeptidase 9 severity ISO protein:increased expression:urine RGD PMID:23720035 RGD:13204823 NCBI chr20:42,346,305...42,354,018
Ensembl chr20:43,432,389...43,440,129 		JBrowse link
G RASA1 RAS p21 protein activator 1 ISO ClinVar Annotator: match by term: Parkes Weber syndrome ClinVar PMID:22200646 PMID:23801933 PMID:24038909 PMID:25741868 PMID:27081547 More... NCBI chr 5:27,980,907...28,104,368
Ensembl chr 5:28,115,159...28,240,321 		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 1:38,369,021...38,771,911
Ensembl chr 1:39,820,394...40,096,558 		JBrowse link
Tufted Angioma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GNA14 G protein subunit alpha 14 ISO ClinVar Annotator: match by term: Tufted angioma ClinVar PMID:25741868 NCBI chr 9:47,196,338...47,423,388 JBrowse link
G KDR kinase insert domain receptor ISO ClinVar Annotator: match by term: Tufted angioma ClinVar PMID:25741868 PMID:26422291 PMID:28492532 NCBI chr 4:68,813,894...68,861,018
Ensembl chr 4:75,377,375...75,427,109 		JBrowse link
Vein of Galen Aneurysm term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CLDN14 claudin 14 ISO ClinVar Annotator: match by term: Galen vein aneurysm ClinVar PMID:23991001 PMID:24033266 PMID:25741868 PMID:28492532 PMID:30578106 NCBI chr21:22,830,770...22,946,594
Ensembl chr21:36,187,306...36,188,025 		JBrowse link
G EPHB4 EPH receptor B4 ISO ClinVar Annotator: match by term: Galen vein aneurysm ClinVar PMID:30578106 NCBI chr 7:92,827,550...92,852,462
Ensembl chr 7:106,223,427...106,248,022 		JBrowse link
G KAT6A lysine acetyltransferase 6A ISO ClinVar Annotator: match by term: Galen vein aneurysm ClinVar PMID:30578106 NCBI chr 8:41,173,833...41,296,547
Ensembl chr 8:38,625,156...38,741,538 		JBrowse link
G KMT2D lysine methyltransferase 2D ISO ClinVar Annotator: match by term: Galen vein aneurysm ClinVar PMID:28492532 PMID:30578106 NCBI chr12:39,689,463...39,731,904
Ensembl chr12:40,575,083...40,608,661 		JBrowse link
G LOC100989368 Kell metallo-endopeptidase (Kell blood group) ISO ClinVar Annotator: match by term: Galen vein aneurysm ClinVar PMID:30578106 NCBI chr 7:134,897,567...135,237,214
Ensembl chr 7:147,423,103...147,443,895
Ensembl chr 7:147,423,103...147,443,895 		JBrowse link
G SMARCA2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 ISO ClinVar Annotator: match by term: Galen vein aneurysm ClinVar PMID:30578106 NCBI chr 9:1,818,004...1,997,652
Ensembl chr 9:2,013,237...2,189,409 		JBrowse link
verrucous keratotic hemangioma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MAP3K3 mitogen-activated protein kinase kinase kinase 3 ISO ClinVar Annotator: match by term: Verrucous venous malformation ClinVar PMID:25741868 NCBI chr17:57,702,242...57,776,601
Ensembl chr17:62,858,635...62,922,874 		JBrowse link
von Hippel-Lindau disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BRK1 BRICK1 subunit of SCAR/WAVE actin nucleating complex ISO ClinVar Annotator: match by term: Von Hippel-Lindau syndrome ClinVar PMID:25741868 NCBI chr 3:10,051,054...10,062,364
Ensembl chr 3:10,403,896...10,415,545 		JBrowse link
G CCND1 cyclin D1 susceptibility ISO ClinVar Annotator: match by term: VON HIPPEL-LINDAU SYNDROME, MODIFIER OF OMIM
ClinVar		 PMID:10667569 PMID:11459873 PMID:12097293 PMID:23502783 PMID:24870244 More... NCBI chr11:64,737,006...64,750,353 JBrowse link
G EPAS1 endothelial PAS domain protein 1 ISO protein:increased expression:kidney: RGD PMID:22299048 RGD:11041600 NCBI chr2A:46,403,411...46,492,734
Ensembl chr2A:47,332,308...47,421,560 		JBrowse link
G IRAK2 interleukin 1 receptor associated kinase 2 ISO ClinVar Annotator: match by term: Von Hippel-Lindau syndrome ClinVar PMID:25741868 NCBI chr 3:10,100,279...10,179,487
Ensembl chr 3:10,453,329...10,532,629 		JBrowse link
G MMP3 matrix metallopeptidase 3 onset ISO RGD PMID:19551141 RGD:7241233 NCBI chr11:97,776,729...97,784,549
Ensembl chr11:101,267,566...101,275,354 		JBrowse link
G SDHB succinate dehydrogenase complex iron sulfur subunit B ISO ClinVar Annotator: match by term: Von Hippel-Lindau syndrome ClinVar PMID:9509062 PMID:11404820 PMID:12618761 PMID:16314641 PMID:16317055 More... NCBI chr 1:15,962,383...15,998,056
Ensembl chr 1:17,018,542...17,054,509 		JBrowse link
G SLC18A1 solute carrier family 18 member A1 ISO mRNA:increased expression:tumor (human) RGD PMID:16189177 RGD:5131200 NCBI chr 8:19,369,843...19,408,412
Ensembl chr 8:16,318,744...16,353,708 		JBrowse link
G VHL von Hippel-Lindau tumor suppressor ISO ClinVar Annotator: match by term: VHL syndrome | ClinVar Annotator: match by term: Von Hippel-Lindau | ClinVar Annotator: match by term: Von Hippel-Lindau syndrome OMIM
ClinVar		 PMID:982991 PMID:1056348 PMID:2362675 PMID:2844285 PMID:7553625 More... NCBI chr 3:10,077,630...10,089,499
Ensembl chr 3:10,430,143...10,440,234 		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 chr13:81,771,668...81,841,926
Ensembl chr13:100,910,277...100,976,164 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17996
    disease of cellular proliferation 7240
      Neoplasms by Histologic Type 5050
        Vascular Tissue Neoplasms 176
          Angiofibroma 1
          Kaposi's sarcoma + 8
          angiokeratoma + 2
          glomus tumor + 1
          hemangioma + 111
          meningioma + 31
          vascular cancer + 53
Path 2
Term Annotations click to browse term
  disease 17996
    disease of anatomical entity 15260
      cardiovascular system disease 4333
        vascular disease 3043
          Vascular Tissue Neoplasms 176
            Angiofibroma 1
            Kaposi's sarcoma + 8
            angiokeratoma + 2
            glomus tumor + 1
            hemangioma + 111
            meningioma + 31
            vascular cancer + 53
paths to the root