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
Accession: DOID:9006948
browse the term
Definition: Neoplasms composed of vascular tissue. This concept does not refer to neoplasms located in blood vessels.
Synonyms: exact_synonym: blood vessel neoplasm; blood vessel tumor; blood vessel tumors; blood vessel tumour disorder; haemangiomatous tumour; neoplasm of great vessel; vascular tissue neoplasm; vascular tumors
primary_id: MESH:D009383
alt_id: RDO:0004851
For additional species annotation, visit the
Alliance of Genome Resources .
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Bcl2
BCL2, apoptosis regulator
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:10861090
NCBI chr13:26,605,426...26,769,374
Ensembl chr13:26,605,426...26,769,374
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Men1
menin 1
ISO
ClinVar Annotator: match by term: Angiofibroma, somatic
ClinVar
PMID:9236523 PMID:9740255
NCBI chr 1:221,704,394...221,710,343
Ensembl chr 1:221,704,493...221,710,331
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Gla
galactosidase, alpha
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:19925601
NCBI chr X:105,405,915...105,417,331
Ensembl chr X:105,406,792...105,417,323
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Naga
alpha-N-acetylgalactosaminidase
ISO
Kanzaki Disease, OMIM:609242, DNA:point mutation:exon:R329W
RGD
PMID:8040340
RGD:1600558
NCBI chr 7:123,563,047...123,572,074
Ensembl chr 7:123,563,059...123,572,082
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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 4:27,473,477...27,597,206
Ensembl chr 4:27,473,477...27,597,206
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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 4:27,438,609...27,473,150
Ensembl chr 4:27,438,609...27,473,150
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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 4:145,282,828...145,289,367
Ensembl chr 4:145,282,797...145,289,326
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Pten
phosphatase and tensin homolog
ISO
protein:increased expression:kidney (human)
RGD
PMID:22737271
RGD:12802360
NCBI chr 1:251,421,814...251,487,634
Ensembl chr 1:251,421,596...251,487,832
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Stat1
signal transducer and activator of transcription 1
ISO
protein:increased serine phosphorylation:kidney
RGD
PMID:15994429
RGD:2298537
NCBI chr 9:54,287,540...54,327,958
Ensembl chr 9:54,287,541...54,484,533
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Stat3
signal transducer and activator of transcription 3
ISO
protein:increased tyrosine phosphorylation:kidney
RGD
PMID:15994429
RGD:2298537
NCBI chr10:88,790,401...88,842,263
Ensembl chr10:88,790,408...88,842,233
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Tsc2
TSC complex subunit 2
ISO
associated with Tuberous Sclerosis;protein:decreased expression, increased threonine phosphorylation:kidney
RGD
PMID:19265534
RGD:8657154
NCBI chr10:13,962,006...13,996,684
Ensembl chr10:13,961,947...13,996,584
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Angpt2
angiopoietin 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17569031
NCBI chr16:75,966,480...76,016,147
Ensembl chr16:75,966,352...76,016,195
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Ccnd1
cyclin D1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17569031
NCBI chr 1:218,090,750...218,100,447
Ensembl chr 1:218,090,750...218,100,325
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Col18a1
collagen type XVIII alpha 1 chain
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17569031
NCBI chr20:12,225,202...12,332,858
Ensembl chr20:12,225,202...12,332,858
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Csf3
colony stimulating factor 3
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:9774950
NCBI chr10:86,616,785...86,619,160
Ensembl chr10:86,616,785...86,619,157
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Ctnnb1
catenin beta 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:13678655
NCBI chr 8:129,601,511...129,628,378
Ensembl chr 8:129,617,812...129,627,372
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Flt1
Fms related receptor tyrosine kinase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17569031
NCBI chr12:9,033,993...9,205,886
Ensembl chr12:9,034,308...9,205,905
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Gja4
gap junction protein, alpha 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17569031
NCBI chr 5:145,374,688...145,377,221
Ensembl chr 5:145,374,690...145,377,221
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Hras
HRas proto-oncogene, GTPase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:10930038
NCBI chr 1:214,178,404...214,181,841
Ensembl chr 1:214,178,407...214,181,686
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Jun
Jun proto-oncogene, AP-1 transcription factor subunit
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17569031
NCBI chr 5:114,011,184...114,014,277
Ensembl chr 5:114,011,189...114,014,277
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Kdr
kinase insert domain receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17569031
NCBI chr14:34,727,677...34,787,127
Ensembl chr14:34,727,623...34,787,183
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Kras
KRAS proto-oncogene, GTPase
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Angiosarcoma
CTD ClinVar
PMID:8456858 PMID:10930038 PMID:12211074 PMID:13678655 PMID:20737008 PMID:24740626 PMID:25157968 PMID:25808193
NCBI chr 4:179,482,562...179,515,483
Ensembl chr 4:179,486,105...179,515,558
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Med12
mediator complex subunit 12
ISO
ClinVar Annotator: match by term: Angiosarcoma
ClinVar
PMID:26822237
NCBI chr X:71,174,653...71,197,812
Ensembl chr X:71,174,699...71,197,812
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Myc
MYC proto-oncogene, bHLH transcription factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17569031
NCBI chr 7:102,586,313...102,591,240
Ensembl chr 7:102,586,313...102,591,240
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Plcg1
phospholipase C, gamma 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24633157
NCBI chr 3:156,727,642...156,758,307
Ensembl chr 3:156,727,642...156,758,307
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Ptprb
protein tyrosine phosphatase, receptor type, B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24633157
NCBI chr 7:59,326,484...59,431,114
Ensembl chr 7:59,326,518...59,425,718
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Stat3
signal transducer and activator of transcription 3
ISO
protein:increased phosphorylation:blood vessel
RGD
PMID:18700251
RGD:8694308
NCBI chr10:88,790,401...88,842,263
Ensembl chr10:88,790,408...88,842,233
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Tek
TEK receptor tyrosine kinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17569031
NCBI chr 5:113,725,717...113,852,799
Ensembl chr 5:113,725,717...113,852,799
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Tp53
tumor protein p53
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:10626228 PMID:10930038 PMID:13678655 PMID:20737008
NCBI chr10:56,186,299...56,198,449
Ensembl chr10:56,187,020...56,198,449
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Vegfa
vascular endothelial growth factor A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17569031
NCBI chr 9:17,340,341...17,355,681
Ensembl chr 9:17,340,341...17,355,681
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Vegfc
vascular endothelial growth factor C
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17569031
NCBI chr16:40,440,371...40,555,178
Ensembl chr16:40,440,207...40,555,576
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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 chr10:94,170,766...94,213,831
Ensembl chr10:94,170,766...94,187,822
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Ackr1
atypical chemokine receptor 1
IEP
RGD
PMID:24429330
RGD:9681736
NCBI chr13:91,827,310...91,828,875
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Angpt2
angiopoietin 2
IEP
mRNA:increased expression:lung (rat)
RGD
PMID:18692629
RGD:2314184
NCBI chr16:75,966,480...76,016,147
Ensembl chr16:75,966,352...76,016,195
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Arrb1
arrestin, beta 1
IEP
mRNA, protein:altered expression:left ventricle (rat)
RGD
PMID:22015551
RGD:5509867
NCBI chr 1:164,502,099...164,573,947
Ensembl chr 1:164,502,389...164,593,139
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Arrb2
arrestin, beta 2
IEP
mRNA, protein:altered expression:left ventricle (rat)
RGD
PMID:22015551
RGD:5509867
NCBI chr10:57,040,252...57,048,045
Ensembl chr10:57,040,267...57,048,134
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Col1a1
collagen type I alpha 1 chain
IEP
in Long Evans rats;mRNA:increased expression:aorta
RGD
PMID:16428894
RGD:8552771
NCBI chr10:82,745,801...82,762,790
Ensembl chr10:82,745,801...82,762,789
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Des
desmin
IEP
RGD
PMID:10591032
RGD:13525010
NCBI chr 9:82,556,574...82,564,288
Ensembl chr 9:82,556,573...82,564,294
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Fgf2
fibroblast growth factor 2
ISO
RGD
PMID:10541235
RGD:8655590
NCBI chr 2:124,081,072...124,134,133
Ensembl chr 2:124,081,072...124,134,681
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Mmp2
matrix metallopeptidase 2
treatment
IEP ISO
protein:increased expression:ileal vein
RGD
PMID:17398390 , PMID:23924957
RGD:1642040 , RGD:13204800
NCBI chr19:15,542,771...15,570,589
Ensembl chr19:15,542,765...15,570,611
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Mmp9
matrix metallopeptidase 9
treatment
IEP ISO
RGD
PMID:17398390 , PMID:23924957
RGD:1642040 , RGD:13204800
NCBI chr 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520
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Nos3
nitric oxide synthase 3
IEP
protein:increased expression:vena cava
RGD
PMID:17344190
RGD:2292146
NCBI chr 4:7,321,908...7,342,404
Ensembl chr 4:7,320,668...7,342,410
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Timp4
TIMP metallopeptidase inhibitor 4
IEP
protein:decreased expression:ileal vein
RGD
PMID:17398390
RGD:1642040
NCBI chr 4:147,156,948...147,163,467
Ensembl chr 4:147,156,948...147,163,467
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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 9:17,340,341...17,355,681
Ensembl chr 9:17,340,341...17,355,681
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Acvrl1
activin A receptor like type 1
ISO
RGD
PMID:11062473
RGD:1300250
NCBI chr 7:142,769,942...142,787,336
Ensembl chr 7:142,776,252...142,787,335
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Eng
endoglin
susceptibility
ISO
associated with Telangiectasia, Hereditary Hemorrhagic;
RGD
PMID:8728706 , PMID:24520391
RGD:11041184 , RGD:11041564
NCBI chr 3:11,679,530...11,717,486
Ensembl chr 3:11,679,530...11,717,485
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Glmn
glomulin, FKBP associated protein
ISO
glomuvenous malformations
RGD
PMID:11845407
RGD:1598992
NCBI chr14:3,204,390...3,247,703
Ensembl chr14:3,204,390...3,247,695
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Map2
microtubule-associated protein 2
IEP
protein:decreased expression:hippocampus
RGD
PMID:20873448
RGD:6483324
NCBI chr 9:73,204,753...73,462,965
Ensembl chr 9:73,319,710...73,462,972
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Mmp9
matrix metallopeptidase 9
ISO
RGD
PMID:16720380
RGD:1582655
NCBI chr 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520
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Rasa1
RAS p21 protein activator 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:14639529 , PMID:15917201
RGD:1581296
NCBI chr 2:13,617,021...13,696,531
Ensembl chr 2:13,616,822...13,696,426
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Tek
TEK receptor tyrosine kinase
susceptibility
ISO
DNA:missense mutation: :p.R849W
RGD
PMID:8980225
RGD:1578533
NCBI chr 5:113,725,717...113,852,799
Ensembl chr 5:113,725,717...113,852,799
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Acvrl1
activin A receptor like type 1
ISS
OMIM:108010
MouseDO
NCBI chr 7:142,769,942...142,787,336
Ensembl chr 7:142,776,252...142,787,335
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Adgrv1
adhesion G protein-coupled receptor V1
ISO
ClinVar Annotator: match by term: Cerebral arteriovenous malformation
ClinVar
PMID:25741868
NCBI chr 2:8,926,843...9,504,455
Ensembl chr 2:8,926,850...9,504,134
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Braf
B-Raf proto-oncogene, serine/threonine kinase
ISO
ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar Annotator: match by term: Arteriovenous malformations of the brain
ClinVar
PMID:12068308 PMID:12198537 PMID:12447372 PMID:12460918 PMID:12460919 PMID:12619120 PMID:12644542 PMID:12670889 PMID:12794760 PMID:12960123 PMID:14513361 PMID:14602780 PMID:14679157 PMID:15001635 PMID:15035987 PMID:15126572 PMID:15181070 PMID:15342696 PMID:15356022 PMID:15386408 PMID:15687339 PMID:15998781 PMID:16015629 PMID:16174717 PMID:16187918 PMID:16772349 PMID:17374713 PMID:17488796 PMID:17785355 PMID:18398503 PMID:19001320 PMID:19010912 PMID:19018267 PMID:19238210 PMID:19404918 PMID:19537845 PMID:19561230 PMID:20008640 PMID:20350999 PMID:20413299 PMID:20619739 PMID:20630094 PMID:20818844 PMID:20823850 PMID:20857202 PMID:21107320 PMID:21107323 PMID:21129611 PMID:21156289 PMID:21163703 PMID:21426297 PMID:21483012 PMID:21502544 PMID:21639808 PMID:21641636 PMID:21683865 PMID:21975775 PMID:22038996 PMID:22048237 PMID:22113612 PMID:22180495 PMID:22281684 PMID:22351686 PMID:22356324 PMID:22389471 PMID:22448344 PMID:22536370 PMID:22586120 PMID:22608338 PMID:22649091 PMID:22663011 PMID:22735384 PMID:22743296 PMID:22773810 PMID:22805292 PMID:22972589 PMID:22997239 PMID:23020132 PMID:23031422 PMID:23251002 PMID:23302800 PMID:23325582 PMID:23470635 PMID:23524406 PMID:23549875 PMID:23614898 PMID:23685455 PMID:23812671 PMID:23833300 PMID:23845441 PMID:23918947 PMID:24107445 PMID:24112392 PMID:24163374 PMID:24388723 PMID:24508103 PMID:24512911 PMID:24576830 PMID:24583796 PMID:24586605 PMID:24594804 PMID:24670642 PMID:24717435 PMID:25024077 PMID:25037139 PMID:25079330 PMID:25157968 PMID:25265492 PMID:25265494 PMID:25370471 PMID:25399551 PMID:25741868 PMID:25950823 PMID:25989278 PMID:26619011 PMID:26678033 PMID:27404270 PMID:27480103 PMID:28854169 PMID:28891408 PMID:29925953 PMID:31779674 PMID:31891627
NCBI chr 4:67,389,331...67,520,549
Ensembl chr 4:67,396,192...67,520,356
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Cacna1h
calcium voltage-gated channel subunit alpha1 H
ISO
ClinVar Annotator: match by term: Cerebral arteriovenous malformation
ClinVar
PMID:25741868
NCBI chr10:14,730,932...14,789,201
Ensembl chr10:14,730,941...14,788,617
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Cdh2
cadherin 2
ISO
ClinVar Annotator: match by term: Cerebral arteriovenous malformation
ClinVar
PMID:25741868
NCBI chr18:8,146,971...8,366,037
Ensembl chr18:8,146,971...8,360,684
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Egfr
epidermal growth factor receptor
ISO
ClinVar Annotator: match by term: Cerebral arteriovenous malformation
ClinVar
PMID:25741868
NCBI chr14:99,919,485...100,104,136
Ensembl chr14:99,919,485...100,098,796
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Eng
endoglin
disease_progression
ISO ISS
DNA:polymorphism: : 207G>A(human) ClinVar Annotator: match by term: Cerebral arteriovenous malformation OMIM:108010
ClinVar MouseDO
PMID:25741868 , PMID:24876084 , PMID:24520391
RGD:11041171 , RGD:11041564
NCBI chr 3:11,679,530...11,717,486
Ensembl chr 3:11,679,530...11,717,485
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Flt1
Fms related receptor tyrosine kinase 1
ISO
protein:increased expression:endothelial cell:
RGD
PMID:11220380
RGD:8551824
NCBI chr12:9,033,993...9,205,886
Ensembl chr12:9,034,308...9,205,905
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Gli2
GLI family zinc finger 2
ISO
ClinVar Annotator: match by term: Arteriovenous malformations of the brain
ClinVar
PMID:25741868
NCBI chr13:34,829,021...35,049,172
Ensembl chr13:34,829,139...35,048,444
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Il17rd
interleukin 17 receptor D
ISO
ClinVar Annotator: match by term: Cerebral arteriovenous malformation
ClinVar
PMID:25636053 PMID:25741868
NCBI chr16:2,670,471...2,737,271
Ensembl chr16:2,670,618...2,731,808
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Il6
interleukin 6
ISO
OMIM
NCBI chr 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807
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Kdr
kinase insert domain receptor
ISO
protein:increased expression:endothelial cell:
RGD
PMID:11220380
RGD:8551824
NCBI chr14:34,727,677...34,787,127
Ensembl chr14:34,727,623...34,787,183
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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 PMID:15696205 PMID:15842656 PMID:16361624 PMID:16434492 PMID:16618717 PMID:17332249 PMID:17384584 PMID:17704260 PMID:17910045 PMID:18316791 PMID:18794081 PMID:19018267 PMID:19029981 PMID:19047918 PMID:19075190 PMID:19114683 PMID:19255327 PMID:19358724 PMID:19679400 PMID:19773371 PMID:19881948 PMID:20609353 PMID:20805368 PMID:20921462 PMID:20921465 PMID:20949522 PMID:21079152 PMID:21169357 PMID:21228335 PMID:21398618 PMID:21975775 PMID:22025163 PMID:22235099 PMID:22407852 PMID:22499344 PMID:22683711 PMID:22897852 PMID:23014527 PMID:23096712 PMID:23406027 PMID:24033266 PMID:25044103 PMID:25157968 PMID:25695684 PMID:26372703 PMID:28492532 PMID:29298116 PMID:31891627
NCBI chr 4:179,482,562...179,515,483
Ensembl chr 4:179,486,105...179,515,558
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Lemd3
LEM domain containing 3
ISO
ClinVar Annotator: match by term: Cerebral arteriovenous malformation
ClinVar
PMID:25741868
NCBI chr 7:62,976,671...63,045,860
Ensembl chr 7:62,996,336...63,045,728
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Map4k4
mitogen-activated protein kinase kinase kinase kinase 4
ISO
ClinVar Annotator: match by term: Cerebral arteriovenous malformation
ClinVar
PMID:25741868
NCBI chr 9:46,657,444...46,782,545
Ensembl chr 9:46,657,575...46,782,545
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Notch4
notch receptor 4
ISO ISS
OMIM:108010
MouseDO
PMID:19546852
RGD:6480671
NCBI chr20:4,329,794...4,353,868
Ensembl chr20:4,329,811...4,353,785
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Pdcd10
programmed cell death 10
ISO
ClinVar Annotator: match by term: Cerebral arteriovenous malformation
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 2:173,966,701...174,012,730
Ensembl chr 2:173,967,080...174,012,676
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Pitpnm3
PITPNM family member 3
ISO
ClinVar Annotator: match by term: Cerebral arteriovenous malformation
ClinVar
PMID:25741868
NCBI chr10:58,618,679...58,722,679
Ensembl chr10:58,618,645...58,693,754
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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 5:7,622,668...7,941,715
Ensembl chr 5:7,627,771...7,941,822
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Sars1
seryl-tRNA synthetase 1
ISO
ClinVar Annotator: match by term: Cerebral arteriovenous malformation
ClinVar
PMID:25741868
NCBI chr 2:211,219,743...211,235,475
Ensembl chr 2:211,219,750...211,235,467
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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 1:174,428,056...174,495,356
Ensembl chr 1:174,428,699...174,495,258
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Syn3
synapsin III
ISO
ClinVar Annotator: match by term: Cerebral arteriovenous malformation
ClinVar
PMID:25741868
NCBI chr 7:23,403,896...23,808,602
Ensembl chr 7:23,403,891...23,808,602
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Timp3
TIMP metallopeptidase inhibitor 3
ISO
ClinVar Annotator: match by term: Cerebral arteriovenous malformation
ClinVar
PMID:25741868
NCBI chr 7:23,543,125...23,594,170
Ensembl chr 7:23,544,215...23,594,133
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Vegfa
vascular endothelial growth factor A
ISO
RGD
PMID:16388189
RGD:1580567
NCBI chr 9:17,340,341...17,355,681
Ensembl chr 9:17,340,341...17,355,681
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Zfyve16
zinc finger FYVE-type containing 16
ISO
ClinVar Annotator: match by term: Cerebral arteriovenous malformation
ClinVar
PMID:25741868
NCBI chr 2:22,060,879...22,105,822
Ensembl chr 2:22,062,050...22,105,710
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Pik3ca
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
ISO
ClinVar Annotator: match by term: RUVALCABA-MYHRE-SMITH SYNDROME ClinVar Annotator: match by term: MACROCEPHALY, PSEUDOPAPILLEDEMA, AND MULTIPLE HEMANGIOMATA
ClinVar
PMID:15930273 PMID:17376864 PMID:18829572 PMID:19366826 PMID:21824802 PMID:22120714 PMID:22729224 PMID:22949682 PMID:24033266 PMID:25157968 PMID:25741868 PMID:26619011 PMID:27631024 PMID:28492532 PMID:28941273 PMID:31568861
NCBI chr 2:118,831,350...118,861,456
Ensembl chr 2:118,831,350...118,861,454
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Pten
phosphatase and tensin homolog
ISO ISS
ClinVar Annotator: match by term: Bannayan-Riley-Ruvalcaba syndrome ClinVar Annotator: match by term: MACROCEPHALY, PSEUDOPAPILLEDEMA, AND MULTIPLE HEMANGIOMATA ClinVar Annotator: match by term: RUVALCABA-MYHRE-SMITH SYNDROME OMIM:153480
ClinVar MouseDO
PMID:9140396 PMID:9241266 PMID:9259288 PMID:9399897 PMID:9467011 PMID:9598803 PMID:10232405 PMID:10353779 PMID:10400993 PMID:10468583 PMID:10555148 PMID:10749983 PMID:10848731 PMID:10920277 PMID:10923032 PMID:11504908 PMID:11685670 PMID:14518070 PMID:15016963 PMID:15211648 PMID:15254419 PMID:15647370 PMID:16952599 PMID:17392703 PMID:17526800 PMID:17873882 PMID:17941496 PMID:18558293 PMID:18725974 PMID:19340001 PMID:19351834 PMID:19366826 PMID:19458356 PMID:19829307 PMID:19903786 PMID:20018398 PMID:20085938 PMID:20453058 PMID:20600018 PMID:20619739 PMID:20881644 PMID:21194675 PMID:21343951 PMID:21659347 PMID:21956414 PMID:22162582 PMID:22162589 PMID:22281088 PMID:22381246 PMID:22479427 PMID:22491738 PMID:22520842 PMID:23335809 PMID:23349303 PMID:23442912 PMID:23470840 PMID:23475934 PMID:23695273 PMID:23886400 PMID:24033266 PMID:24052722 PMID:24778394 PMID:25157968 PMID:25288137 PMID:25326635 PMID:25669429 PMID:25741868 PMID:25756585 PMID:26376867 PMID:26773036 PMID:27426521 PMID:27477328 PMID:27959697 PMID:28286253 PMID:28492532 PMID:28526761 PMID:29663862 PMID:30287823 PMID:32238909
NCBI chr 1:251,421,814...251,487,634
Ensembl chr 1:251,421,596...251,487,832
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Npc1
NPC intracellular cholesterol transporter 1
ISO
ClinVar Annotator: match by term: Capillary hemangiomas
ClinVar
PMID:25741868
NCBI chr18:3,616,878...3,662,656
Ensembl chr18:3,616,878...3,662,683
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Ccnh
cyclin H
ISO
ClinVar Annotator: match by term: Capillary malformation-arteriovenous malformation
ClinVar
PMID:9536098 PMID:14639529 PMID:17576681 PMID:18446851 PMID:24038909 PMID:25741868 PMID:26499346 PMID:27535533 PMID:28166811 PMID:28295764 PMID:28492532 PMID:29891884
NCBI chr 2:13,593,100...13,613,910
Ensembl chr 2:13,593,100...13,613,910
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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
PMID:9536098 PMID:14639529 PMID:17576681 PMID:18446851 PMID:24038909 PMID:25741868 PMID:26499346 PMID:27535533 PMID:28166811 PMID:28295764 PMID:28492532 PMID:29171923 PMID:29891884 PMID:30120215 , PMID:14639529
RGD:734495
NCBI chr 2:13,617,021...13,696,531
Ensembl chr 2:13,616,822...13,696,426
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Stambp
Stam binding protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23542699
NCBI chr 4:115,249,343...115,277,340
Ensembl chr 4:115,249,351...115,275,068
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Ccnh
cyclin H
ISO
ClinVar Annotator: match by term: Capillary malformation-arteriovenous malformation 1
ClinVar
PMID:14639529 PMID:18363760 PMID:18446851 PMID:23164092 PMID:24038909 PMID:25741868 PMID:26499346 PMID:27535533 PMID:28492532 PMID:29120072
NCBI chr 2:13,593,100...13,613,910
Ensembl chr 2:13,593,100...13,613,910
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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 PMID:25741868 PMID:26499346 PMID:27535533 PMID:28492532 PMID:29120072 PMID:29171923 PMID:29891884
NCBI chr 2:13,617,021...13,696,531
Ensembl chr 2:13,616,822...13,696,426
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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 chr12:22,393,338...22,418,332
Ensembl chr12:22,393,330...22,417,980
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Slc12a9
solute carrier family 12, member 9
ISO
ClinVar Annotator: match by term: CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 2
ClinVar
PMID:28687708
NCBI chr12:22,434,845...22,451,265
Ensembl chr12:22,434,814...22,451,263
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Ccm2
CCM2 scaffold protein
ISO
ClinVar Annotator: match by term: Cavernous hemangioma
ClinVar
PMID:25741868
NCBI chr14:86,812,728...86,859,408
Ensembl chr14:86,813,082...86,859,406
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Krit1
KRIT1, ankyrin repeat containing
ISO
ClinVar Annotator: match by term: Cavernous hemangioma
ClinVar
PMID:10545614 PMID:23595507 PMID:24466005 PMID:25741868 PMID:28492532
NCBI chr 4:27,438,609...27,473,150
Ensembl chr 4:27,438,609...27,473,150
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Dhfr
dihydrofolate reductase
ISO
ClinVar Annotator: match by term: Cavernous Sinus Meningioma
ClinVar
NCBI chr 2:21,931,887...21,958,927
Ensembl chr 2:21,931,493...21,962,453
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Kmt2d
lysine methyltransferase 2D
ISO
ClinVar Annotator: match by term: Cavernous Sinus Meningioma
ClinVar
NCBI chr 7:140,507,137...140,542,479
Ensembl chr 7:140,489,492...140,546,908
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Msh3
mutS homolog 3
ISO
ClinVar Annotator: match by term: Cavernous Sinus Meningioma
ClinVar
NCBI chr 2:21,790,048...21,931,791
Ensembl chr 2:21,790,044...21,931,720
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Ccnh
cyclin H
ISO
ClinVar Annotator: match by term: Cerebral venous angioma
ClinVar
PMID:23650393 PMID:25741868 PMID:31680349
NCBI chr 2:13,593,100...13,613,910
Ensembl chr 2:13,593,100...13,613,910
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Rasa1
RAS p21 protein activator 1
ISO
ClinVar Annotator: match by term: Cerebral venous angioma
ClinVar
PMID:23650393 PMID:25741868 PMID:31680349
NCBI chr 2:13,617,021...13,696,531
Ensembl chr 2:13,616,822...13,696,426
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Vhl
von Hippel-Lindau tumor suppressor
ISO
ClinVar Annotator: match by term: Cerebellar hemangioblastoma
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 4:145,580,869...145,587,835
Ensembl chr 4:145,580,799...145,587,845
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Ankib1
ankyrin repeat and IBR domain containing 1
ISO
ClinVar Annotator: match by term: Cerebral cavernous malformation
ClinVar
PMID:25741868
NCBI chr 4:27,473,477...27,597,206
Ensembl chr 4:27,473,477...27,597,206
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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 chr14:86,812,728...86,859,408
Ensembl chr14:86,813,082...86,859,406
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Flt1
Fms related receptor tyrosine kinase 1
ISO
protein:increased expression:endothelial cell:
RGD
PMID:11220380
RGD:8551824
NCBI chr12:9,033,993...9,205,886
Ensembl chr12:9,034,308...9,205,905
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Kdr
kinase insert domain receptor
ISO
protein:increased expression:endothelial cell:
RGD
PMID:11220380
RGD:8551824
NCBI chr14:34,727,677...34,787,127
Ensembl chr14:34,727,623...34,787,183
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Krit1
KRIT1, ankyrin repeat containing
susceptibility
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Cerebral cavernous malformation ClinVar Annotator: match by OMIM:116860
CTD ClinVar
PMID:3393196 PMID:7898703 PMID:9065560 PMID:10508515 PMID:10545614 PMID:10814716 PMID:11161805 PMID:11222804 PMID:11914398 PMID:11959162 PMID:12404106 PMID:12810002 PMID:12854741 PMID:15079030 PMID:17187287 PMID:17211633 PMID:18383588 PMID:19088123 PMID:19454328 PMID:20419355 PMID:20798775 PMID:21029238 PMID:23584803 PMID:23595507 PMID:24401931 PMID:24466005 PMID:24689081 PMID:24721395 PMID:25525273 PMID:25741868 PMID:26467025 PMID:28492532 PMID:28645800 PMID:28745674 PMID:30161288 , PMID:14755725 , PMID:15079030
RGD:1358458 , RGD:1598379
NCBI chr 4:27,438,609...27,473,150
Ensembl chr 4:27,438,609...27,473,150
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Pdcd10
programmed cell death 10
ISO
ClinVar Annotator: match by term: Cerebral cavernous malformation
ClinVar
PMID:28492532
NCBI chr 2:173,966,701...174,012,730
Ensembl chr 2:173,967,080...174,012,676
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Pon1
paraoxonase 1
susceptibility
ISO
DNA:missense mutations:cds:p.L55M, p.Q192R (human)
RGD
PMID:26122242
RGD:11552573
NCBI chr 4:30,249,749...30,276,297
Ensembl chr 4:30,249,742...30,276,372
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Pten
phosphatase and tensin homolog
ISO
protein:decreased expression:brain (human)
RGD
PMID:19061355
RGD:12859036
NCBI chr 1:251,421,814...251,487,634
Ensembl chr 1:251,421,596...251,487,832
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Serpini1
serpin family I member 1
ISO
ClinVar Annotator: match by term: Cerebral cavernous malformation
ClinVar
NCBI chr 2:174,013,058...174,111,693
Ensembl chr 2:174,013,288...174,111,752
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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 PMID:10814716 PMID:11222804 PMID:11310633 PMID:11914398 PMID:11941540 PMID:12404106 PMID:12854741 PMID:17562932 PMID:19088123 PMID:19454328 PMID:24401931 PMID:25741868 PMID:26467025 PMID:28492532
NCBI chr 4:27,438,609...27,473,150
Ensembl chr 4:27,438,609...27,473,150
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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:17160895 PMID:18060436 PMID:18300272 PMID:19088123 PMID:19088124 PMID:20419355 PMID:23595507 PMID:24466005 PMID:25525273 PMID:25741868 PMID:26467025 PMID:27153162 PMID:27561926 PMID:27792856 PMID:28492532 PMID:28655553 PMID:32860008
NCBI chr14:86,812,728...86,859,408
Ensembl chr14:86,813,082...86,859,406
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Nacad
NAC alpha domain containing
ISO
ClinVar Annotator: match by term: Cerebral cavernous malformations 2
ClinVar
PMID:17160895 PMID:28492532
NCBI chr14:86,860,607...86,868,605
Ensembl chr14:86,860,608...86,868,598
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Pdcd10
programmed cell death 10
ISO
ClinVar Annotator: match by term: Cerebral cavernous malformations 3
OMIM ClinVar
PMID:15543491 PMID:18035376 PMID:18060436 PMID:20623299 PMID:23485406 PMID:23595507 PMID:23801932 PMID:25354366 PMID:25741868 PMID:26896283 PMID:28492532 PMID:30161288
NCBI chr 2:173,966,701...174,012,730
Ensembl chr 2:173,967,080...174,012,676
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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 2:174,013,058...174,111,693
Ensembl chr 2:174,013,288...174,111,752
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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:15647370 PMID:15805248 PMID:16906227 PMID:16930767 PMID:17376864 PMID:18676830 PMID:18725974 PMID:19029981 PMID:19223544 PMID:19366826 PMID:19513541 PMID:19903786 PMID:20453058 PMID:20619739 PMID:21430269 PMID:21558396 PMID:21824802 PMID:22162582 PMID:22162589 PMID:22271473 PMID:22357840 PMID:22658544 PMID:22729222 PMID:22729224 PMID:23066039 PMID:23100325 PMID:24033266 PMID:24559322 PMID:25157968 PMID:25741868 PMID:26619011 PMID:26851524 PMID:27631024 PMID:28492532 PMID:29446767 PMID:31775759
NCBI chr 2:118,831,350...118,861,456
Ensembl chr 2:118,831,350...118,861,454
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Ace
angiotensin I converting enzyme
ISO
DNA:deletion:intron:IVS16+1464-1751del (human)
RGD
PMID:20488708
RGD:11039024
NCBI chr10:94,170,766...94,213,831
Ensembl chr10:94,170,766...94,187,822
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Cand2
cullin-associated and neddylation-dissociated 2 (putative)
ISO
RGD
PMID:31426861
RGD:18899564
NCBI chr 4:147,686,487...147,714,593
Ensembl chr 4:147,686,490...147,714,585
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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 chr12:51,214,192...51,250,230
Ensembl chr12:51,214,192...51,250,230
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Nf2
neurofibromin 2
susceptibility
ISO
ClinVar Annotator: match by term: Meningioma, familial CTD Direct Evidence: marker/mechanism
ClinVar CTD OMIM
PMID:20553997 PMID:25741868 PMID:28492532
NCBI chr14:84,996,905...85,088,547
Ensembl chr14:84,996,905...85,088,523
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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 7:121,215,458...121,233,092
Ensembl chr 7:121,214,628...121,232,741
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Pten
phosphatase and tensin homolog
susceptibility
ISO
ClinVar Annotator: match by term: Meningioma, familial ClinVar Annotator: match by term: Meningioma, familial, susceptibility to CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:9399897 PMID:9425889 PMID:9467011 PMID:10232405 PMID:10353779 PMID:10400993 PMID:10468583 PMID:10555148 PMID:10749983 PMID:10848731 PMID:11685670 PMID:11939587 PMID:14518070 PMID:14566704 PMID:16014636 PMID:16773562 PMID:17392703 PMID:17526801 PMID:17898811 PMID:17942903 PMID:20600018 PMID:21194675 PMID:21659347 PMID:21828076 PMID:21956414 PMID:22381246 PMID:23442912 PMID:23470840 PMID:23475934 PMID:23695273 PMID:24033266 PMID:24052722 PMID:24375884 PMID:24778394 PMID:25022750 PMID:25132236 PMID:25157968 PMID:25326635 PMID:25525159 PMID:25669429 PMID:25741868 PMID:25756585 PMID:25875300 PMID:26468640 PMID:27477328 PMID:27531073 PMID:27959697 PMID:28492532 PMID:28526761 PMID:28677221 PMID:30287823 PMID:30311380 PMID:32238909
NCBI chr 1:251,421,814...251,487,634
Ensembl chr 1:251,421,596...251,487,832
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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:17576681 PMID:22426308 PMID:23377182 PMID:25169753 PMID:25741868 PMID:28166811 PMID:28492532
NCBI chr10:87,116,827...87,138,890
Ensembl chr10:87,116,827...87,137,965
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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 1:266,143,766...266,241,742
Ensembl chr 1:266,143,818...266,239,016
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Glmn
glomulin, FKBP associated protein
ISO
glomuvenous malformations
RGD
PMID:11845407
RGD:1598992
NCBI chr14:3,204,390...3,247,703
Ensembl chr14:3,204,390...3,247,695
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Sdhd
succinate dehydrogenase complex subunit D
ISO
ClinVar Annotator: match by term: Glomus tumor
ClinVar
PMID:10657297 PMID:11156372 PMID:11526495 PMID:12007193 PMID:12111639 PMID:12386824 PMID:12696072 PMID:14557476 PMID:15032977 PMID:15623805 PMID:18678321 PMID:21565294 PMID:21979946 PMID:22584711 PMID:22703879 PMID:23175444 PMID:23666964 PMID:24033266 PMID:24728327 PMID:24886695 PMID:25149476 PMID:25694510 PMID:25695889 PMID:25741868 PMID:26467025 PMID:27153395 PMID:27279923 PMID:28128698 PMID:28164237 PMID:28492532 PMID:29386252
NCBI chr 8:55,028,125...55,037,604
Ensembl chr 8:55,028,125...55,037,604
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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 PMID:25741868 PMID:28492532
NCBI chr14:3,204,390...3,247,703
Ensembl chr14:3,204,390...3,247,695
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Hif1a
hypoxia inducible factor 1 subunit alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15341671
NCBI chr 6:96,810,868...96,856,303
Ensembl chr 6:96,810,907...96,856,052
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Ndrg1
N-myc downstream regulated 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15341671
NCBI chr 7:107,734,326...107,775,701
Ensembl chr 7:107,734,323...107,775,714
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Idh1
isocitrate dehydrogenase (NADP(+)) 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22057234
NCBI chr 9:71,882,108...71,911,645
Ensembl chr 9:71,882,105...71,900,044
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Idh2
isocitrate dehydrogenase (NADP(+)) 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22057234
NCBI chr 1:141,874,354...141,893,674
Ensembl chr 1:141,866,283...141,893,705
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Mmp2
matrix metallopeptidase 2
ISO
RGD
PMID:19821096
RGD:8657063
NCBI chr19:15,542,771...15,570,589
Ensembl chr19:15,542,765...15,570,611
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Notch1
notch receptor 1
ISO
ClinVar Annotator: match by term: Hemangioma
ClinVar
NCBI chr 3:3,905,562...3,951,015
Ensembl chr 3:3,905,453...3,951,025
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Pten
phosphatase and tensin homolog
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Hemangioma
CTD ClinVar
PMID:9286463 PMID:28492532
NCBI chr 1:251,421,814...251,487,634
Ensembl chr 1:251,421,596...251,487,832
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Slc2a1
solute carrier family 2 member 1
ISO
RGD
PMID:10665907
RGD:12879499
NCBI chr 5:138,154,677...138,182,897
Ensembl chr 5:138,154,673...138,182,897
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Srd5a3
steroid 5 alpha-reductase 3
ISO
ClinVar Annotator: match by term: Hemangioma
ClinVar
PMID:25741868 PMID:28492532
NCBI chr14:34,554,769...34,570,423
Ensembl chr14:34,556,220...34,570,356
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Tsc2
TSC complex subunit 2
ISO
RGD
PMID:10096549
RGD:11568655
NCBI chr10:13,962,006...13,996,684
Ensembl chr10:13,961,947...13,996,584
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Yap1
Yes1 associated transcriptional regulator
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:31351048
NCBI chr 8:6,133,014...6,204,240
Ensembl chr 8:6,135,493...6,203,579
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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 chr10:13,962,006...13,996,684
Ensembl chr10:13,961,947...13,996,584
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Antxr1
ANTXR cell adhesion molecule 1
ISO
ClinVar Annotator: match by term: Hemangioma, capillary infantile, susceptibility to
OMIM ClinVar
PMID:18931684
NCBI chr 4:118,946,267...119,131,202
Ensembl chr 4:118,946,268...119,131,202
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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 chr10:35,078,782...35,120,296
Ensembl chr10:35,078,726...35,121,599
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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 chr14:34,727,677...34,787,127
Ensembl chr14:34,727,623...34,787,183
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Myh9
myosin, heavy chain 9
ISO
ClinVar Annotator: match by term: Hemangioma, capillary infantile
ClinVar
NCBI chr 7:118,740,005...118,792,507
Ensembl chr 7:118,741,110...118,792,625
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Slc2a1
solute carrier family 2 member 1
ISO
RGD
PMID:17554865
RGD:12879502
NCBI chr 5:138,154,677...138,182,897
Ensembl chr 5:138,154,673...138,182,897
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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 PMID:12560873 PMID:12719374 PMID:15070960 PMID:15331795 PMID:15472205 PMID:16150725 PMID:16278864 PMID:17623760
NCBI chr 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807
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Pik3cg
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma
treatment
ISO
RGD
PMID:21665152
RGD:38599159
NCBI chr 6:51,465,696...51,501,234
Ensembl chr 6:51,465,908...51,498,337
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Tp53
tumor protein p53
ISO
GAD
PMID:15118671
RGD:1331525
NCBI chr10:56,186,299...56,198,449
Ensembl chr10:56,187,020...56,198,449
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Fgf2
fibroblast growth factor 2
ISO
RGD
PMID:14517397
RGD:8655667
NCBI chr 2:124,081,072...124,134,133
Ensembl chr 2:124,081,072...124,134,681
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Gna14
G protein subunit alpha 14
ISO
ClinVar Annotator: match by term: Kaposiform hemangioendothelioma
ClinVar
PMID:27476652
NCBI chr 1:235,165,775...235,347,986
Ensembl chr 1:235,166,718...235,347,937
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Mtor
mechanistic target of rapamycin kinase
treatment
ISO
associated with Tuberous Sclerosis
RGD
PMID:23054313
RGD:7245506
NCBI chr 5:165,263,813...165,373,967
Ensembl chr 5:165,263,800...165,373,967
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Esr1
estrogen receptor 1
ISO
RGD
PMID:18285421
RGD:4892300
NCBI chr 1:41,192,029...41,594,799
Ensembl chr 1:41,192,824...41,594,796
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Hes1
hes family bHLH transcription factor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20038814
NCBI chr11:74,312,837...74,315,249
Ensembl chr11:74,312,806...74,315,248
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Jag2
jagged canonical Notch ligand 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20038814
NCBI chr 6:137,711,144...137,733,331
Ensembl chr 6:137,711,155...137,733,026
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Mmp3
matrix metallopeptidase 3
treatment
ISO
RGD
PMID:23035046
RGD:8693678
NCBI chr 8:5,676,608...5,698,579
Ensembl chr 8:5,676,665...5,698,579
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Mmp9
matrix metallopeptidase 9
ISO
protein:increased expression:serum, plasma
RGD
PMID:18760908
RGD:5129697
NCBI chr 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520
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Nos3
nitric oxide synthase 3
ISO
protein:increased expression:lung
RGD
PMID:11306434
RGD:4892080
NCBI chr 4:7,321,908...7,342,404
Ensembl chr 4:7,320,668...7,342,410
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Pkm
pyruvate kinase M1/2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:32078667
NCBI chr 8:64,480,963...64,502,957
Ensembl chr 8:64,481,172...64,502,722
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Srf
serum response factor
ISO
RGD
PMID:12654640
RGD:1580753
NCBI chr 9:16,737,637...16,747,226
Ensembl chr 9:16,737,642...16,747,225
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Stat1
signal transducer and activator of transcription 1
ISO
protein:increased serine phosphorylation:lung
RGD
PMID:15994429
RGD:2298537
NCBI chr 9:54,287,540...54,327,958
Ensembl chr 9:54,287,541...54,484,533
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Stat3
signal transducer and activator of transcription 3
ISO
protein:increased tyrosine phosphorylation:lung
RGD
PMID:15994429
RGD:2298537
NCBI chr10:88,790,401...88,842,263
Ensembl chr10:88,790,408...88,842,233
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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 PMID:9924605 PMID:10090883 PMID:10227394 PMID:10353610 PMID:10363127 PMID:10533066 PMID:10533067 PMID:10570911 PMID:10607950 PMID:10874311 PMID:11112665 PMID:11208653 PMID:11329144 PMID:11829138 PMID:12015165 PMID:12111193 PMID:12773163 PMID:12853839 PMID:14633685 PMID:14756965 PMID:15798777 PMID:16114042 PMID:16981987 PMID:17304050 PMID:18032745 PMID:18772611 PMID:18830229 PMID:19419980 PMID:20547222 PMID:21510812 PMID:21520333 PMID:21811971 PMID:22490766 PMID:22703879 PMID:22707517 PMID:22923433 PMID:23254740 PMID:23401075 PMID:24033266 PMID:24633152 PMID:24728327 PMID:25525159 PMID:25741868 PMID:25900779 PMID:26231267 PMID:26467025 PMID:26540169 PMID:27425891 PMID:27494029 PMID:28492532 PMID:29221145 PMID:29286531 PMID:32078667
NCBI chr 3:7,219,955...7,269,063
Ensembl chr 3:7,237,192...7,265,145
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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
PMID:5279523 PMID:8824881 PMID:9076719 PMID:9285776 PMID:9302281 PMID:9412784 PMID:9463313 PMID:9829910 PMID:10090883 PMID:10205261 PMID:10215407 PMID:10533066 PMID:10533067 PMID:10570911 PMID:10577937 PMID:10607950 PMID:10633137 PMID:10732801 PMID:10735580 PMID:10823953 PMID:10905251 PMID:10942116 PMID:11068191 PMID:11112665 PMID:11208653 PMID:11290735 PMID:11520734 PMID:11521203 PMID:11603814 PMID:11741832 PMID:11741833 PMID:11829138 PMID:12062115 PMID:12086608 PMID:12111193 PMID:12136241 PMID:12235314 PMID:12752578 PMID:14993219 PMID:15024740 PMID:15072102 PMID:15483652 PMID:15595939 PMID:15798777 PMID:15874888 PMID:15963462 PMID:16032769 PMID:16114042 PMID:16464865 PMID:16554133 PMID:16981987 PMID:17034546 PMID:17120248 PMID:17304050 PMID:17536269 PMID:18032745 PMID:18302728 PMID:18308511 PMID:18414213 PMID:18854862 PMID:19369101 PMID:20108343 PMID:20165957 PMID:20399389 PMID:20633017 PMID:21252315 PMID:21309039 PMID:21332470 PMID:21510812 PMID:21520333 PMID:21910228 PMID:22552000 PMID:22558107 PMID:22703879 PMID:22867869 PMID:22903760 PMID:23006675 PMID:23254740 PMID:23389244 PMID:23504366 PMID:23514105 PMID:23955302 PMID:24033266 PMID:24055113 PMID:24271014 PMID:24412076 PMID:25088526 PMID:25281918 PMID:25525159 PMID:25599672 PMID:25637381 PMID:25741868 PMID:25862857 PMID:26332594 PMID:26467025 PMID:26540169 PMID:26703369 PMID:27153395 PMID:27174333 PMID:27600092 PMID:27884173 PMID:28065512 PMID:28127866 PMID:28178598 PMID:28397210 PMID:28492532 PMID:28968464 PMID:29476190 PMID:29500070 PMID:29801666 PMID:31586081 PMID:32078667 PMID:32860008 , PMID:10823953 , PMID:20639436
RGD:1580521 , RGD:11568662
NCBI chr10:13,962,006...13,996,684
Ensembl chr10:13,961,947...13,996,584
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Vegfd
vascular endothelial growth factor D
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20038814
NCBI chr X:31,816,480...31,852,239
Ensembl chr X:31,816,436...31,851,715
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Akt1
AKT serine/threonine kinase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23334667
NCBI chr 6:137,218,398...137,239,970
Ensembl chr 6:137,218,376...137,236,258
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Alad
aminolevulinate dehydratase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16140629
NCBI chr 5:78,368,867...78,379,206
Ensembl chr 5:78,368,867...78,379,346
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Bap1
Brca1 associated protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25231345
NCBI chr16:7,336,685...7,345,511
Ensembl chr16:7,336,685...7,345,511
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Cst3
cystatin C
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19747051
NCBI chr 3:143,219,671...143,223,544
Ensembl chr 3:143,219,686...143,223,615
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Cstb
cystatin B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19747051
NCBI chr20:10,966,357...10,968,399
Ensembl chr20:10,966,331...10,968,432
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Ctsl
cathepsin L
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19747051
NCBI chr17:1,873,105...1,879,266
Ensembl chr17:1,872,848...1,879,279
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Dnmt1
DNA methyltransferase 1
ISO
ClinVar Annotator: match by term: Meningioma
ClinVar
NCBI chr 8:21,922,515...21,968,495
Ensembl chr 8:21,922,515...21,968,495
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Epb41l3
erythrocyte membrane protein band 4.1-like 3
ISO
RGD
PMID:10888600
RGD:1300356
NCBI chr 9:117,314,935...117,666,408
Ensembl chr 9:117,538,009...117,666,410
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Gstm3
glutathione S-transferase mu 3
ISO
DNA: deletion: intron 6
RGD
PMID:16598069
RGD:5688743
NCBI chr 2:210,685,204...210,688,273
Ensembl chr 2:210,685,197...210,688,272
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Gstm5
glutathione S-transferase, mu 5
ISO
DNA: deletion: intron 6
RGD
PMID:16598069
RGD:5688743
NCBI chr 2:210,685,338...210,688,133
Ensembl chr 2:210,685,197...210,688,272
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Hes1
hes family bHLH transcription factor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21127729
NCBI chr11:74,312,837...74,315,249
Ensembl chr11:74,312,806...74,315,248
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Hgf
hepatocyte growth factor
disease_progression
ISO
protein:increased expression:brain:
RGD
PMID:12115353
RGD:8548633
NCBI chr 4:15,435,460...15,505,377
Ensembl chr 4:15,433,295...15,505,362
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Mllt10
MLLT10, histone lysine methyltransferase DOT1L cofactor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21804547
NCBI chr17:84,847,660...84,981,134
Ensembl chr17:84,881,414...84,979,543
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Mn1
MN1 proto-oncogene, transcriptional regulator
ISO
DNA:translocation
RGD
PMID:16398473 , PMID:7731706
RGD:1624321 , RGD:1600423
NCBI chr12:51,214,192...51,250,230
Ensembl chr12:51,214,192...51,250,230
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Mtrr
5-methyltetrahydrofolate-homocysteine methyltransferase reductase
susceptibility
ISO
DNA:SNP: :66A>G, (rs1801394) (human)
RGD
PMID:18483342
RGD:5508186
NCBI chr 1:37,743,089...37,774,485
Ensembl chr 1:37,743,147...37,774,015
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Nf2
neurofibromin 2
ISO
ClinVar Annotator: match by term: Meningioma CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by null
ClinVar CTD
PMID:7868131 PMID:8162072 PMID:8379998 PMID:8882871 PMID:9718334 PMID:9884492 PMID:18033041 PMID:22711605 PMID:23334667 PMID:25741868 PMID:26073919 PMID:28492532 , PMID:16398473
RGD:1624321
NCBI chr14:84,996,905...85,088,547
Ensembl chr14:84,996,905...85,088,523
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Pdgfb
platelet derived growth factor subunit B
ISO
ClinVar Annotator: match by null
ClinVar
PMID:2212004 PMID:3133569 PMID:3969118
NCBI chr 7:121,215,458...121,233,092
Ensembl chr 7:121,214,628...121,232,741
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Pgr
progesterone receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:8008172 PMID:19731987 PMID:19747051
NCBI chr 8:7,128,656...7,187,796
Ensembl chr 8:7,128,656...7,187,796
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Pten
phosphatase and tensin homolog
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Meningioma
CTD ClinVar
PMID:12085208 PMID:23442912 PMID:25741868 PMID:27535533 PMID:28492532
NCBI chr 1:251,421,814...251,487,634
Ensembl chr 1:251,421,596...251,487,832
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Smo
smoothened, frizzled class receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23334667
NCBI chr 4:57,019,941...57,041,779
Ensembl chr 4:57,019,941...57,042,770
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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 PMID:25741868 PMID:28492532 PMID:29907875
NCBI chr 4:115,249,343...115,277,340
Ensembl chr 4:115,249,351...115,275,068
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Tek
TEK receptor tyrosine kinase
ISO
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 PMID:19888299 PMID:25326635 PMID:25741868 PMID:26319232 PMID:27270174 PMID:28492532
NCBI chr 5:113,725,717...113,852,799
Ensembl chr 5:113,725,717...113,852,799
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Il6
interleukin 6
ISO
ClinVar Annotator: match by term: Non AIDS related Kaposi sarcoma
ClinVar
PMID:9769329 PMID:10720087 PMID:11001912 PMID:11889177 PMID:12519862 PMID:12560873 PMID:12719374 PMID:15070960 PMID:15331795 PMID:15472205 PMID:16150725 PMID:16278864 PMID:17623760
NCBI chr 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807
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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 PMID:26387786 PMID:28492532 PMID:32581362
NCBI chr 3:110,159,624...110,245,382
Ensembl chr 3:110,159,708...110,249,217
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Ccnh
cyclin H
ISO
ClinVar Annotator: match by term: Parkes Weber syndrome
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 2:13,593,100...13,613,910
Ensembl chr 2:13,593,100...13,613,910
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Fn1
fibronectin 1
ISO
mRNA, protein:increased expression:cerebral cortex
RGD
PMID:12621118
RGD:1358624
NCBI chr 9:78,900,111...78,969,018
Ensembl chr 9:78,900,103...78,969,078
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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 1:233,382,778...233,622,584
Ensembl chr 1:233,382,708...233,622,786
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Mmp2
matrix metallopeptidase 2
severity
ISO
protein:increased expression:urine
RGD
PMID:23720035
RGD:13204823
NCBI chr19:15,542,771...15,570,589
Ensembl chr19:15,542,765...15,570,611
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Mmp9
matrix metallopeptidase 9
severity
ISO
protein:increased expression:urine
RGD
PMID:23720035
RGD:13204823
NCBI chr 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520
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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 2:13,617,021...13,696,531
Ensembl chr 2:13,616,822...13,696,426
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Macf1
microtubule-actin crosslinking factor 1
ISO
ClinVar Annotator: match by term: Facial hemangioma
ClinVar
PMID:31474318
NCBI chr 5:141,039,455...141,363,524
Ensembl chr 5:141,039,468...141,363,524
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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 1:218,090,750...218,100,447
Ensembl chr 1:218,090,750...218,100,325
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Epas1
endothelial PAS domain protein 1
ISO
protein:increased expression:kidney:
RGD
PMID:22299048
RGD:11041600
NCBI chr 6:10,306,508...10,385,239
Ensembl chr 6:10,306,405...10,387,265
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Mmp3
matrix metallopeptidase 3
onset
ISO
RGD
PMID:19551141
RGD:7241233
NCBI chr 8:5,676,608...5,698,579
Ensembl chr 8:5,676,665...5,698,579
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Slc18a1
solute carrier family 18 member A1
ISO
mRNA:increased expression:tumor (human)
RGD
PMID:16189177
RGD:5131200
NCBI chr16:22,358,646...22,395,183
Ensembl chr16:22,361,998...22,395,183
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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 PMID:7728151 PMID:7759077 PMID:7784063 PMID:7915601 PMID:7977367 PMID:7987306 PMID:7987327 PMID:8069849 PMID:8187067 PMID:8239848 PMID:8270255 PMID:8493574 PMID:8522307 PMID:8550742 PMID:8592333 PMID:8634692 PMID:8641976 PMID:8707293 PMID:8730290 PMID:8772572 PMID:8825918 PMID:8825919 PMID:8863170 PMID:8956040 PMID:9058738 PMID:9143408 PMID:9156047 PMID:9209471 PMID:9215674 PMID:9329368 PMID:9398721 PMID:9399847 PMID:9435426 PMID:9452032 PMID:9663592 PMID:9671762 PMID:9681856 PMID:9751722 PMID:9770531 PMID:9829911 PMID:9829912 PMID:9880225 PMID:10088816 PMID:10102622 PMID:10205047 PMID:10326868 PMID:10340905 PMID:10364675 PMID:10408776 PMID:10458336 PMID:10533030 PMID:10563480 PMID:10567493 PMID:10570625 PMID:10581162 PMID:10587522 PMID:10612827 PMID:10627136 PMID:10697963 PMID:10761708 PMID:10766184 PMID:10823831 PMID:10878807 PMID:10900011 PMID:10955664 PMID:11058902 PMID:11106358 PMID:11114638 PMID:11171960 PMID:11257211 PMID:11309459 PMID:11331612 PMID:11331613 PMID:11409863 PMID:11483638 PMID:11505222 PMID:11536052 PMID:11688398 PMID:11709017 PMID:11739384 PMID:11865071 PMID:11921283 PMID:11987242 PMID:12000816 PMID:12004076 PMID:12050673 PMID:12056827 PMID:12081237 PMID:12114475 PMID:12114495 PMID:12202531 PMID:12351569 PMID:12393546 PMID:12414898 PMID:12415268 PMID:12500216 PMID:12510195 PMID:12538644 PMID:12624160 PMID:12702509 PMID:12807974 PMID:12844285 PMID:12853836 PMID:12912922 PMID:13985160 PMID:14500403 PMID:14556007 PMID:14604959 PMID:14722919 PMID:14726398 PMID:14767570 PMID:14973063 PMID:14987375 PMID:15109448 PMID:15177666 PMID:15300849 PMID:15574766 PMID:15611064 PMID:15642664 PMID:15642680 PMID:15881703 PMID:15932632 PMID:16142346 PMID:16210343 PMID:16261165 PMID:16314641 PMID:16452184 PMID:16488999 PMID:16502427 PMID:16505488 PMID:16572651 PMID:16669786 PMID:16775032 PMID:16809612 PMID:16847331 PMID:16868829 PMID:16884327 PMID:16952288 PMID:16969113 PMID:17001110 PMID:17024664 PMID:17060462 PMID:17102069 PMID:17102082 PMID:17102083 PMID:17264095 PMID:17350623 PMID:17406817 PMID:17407064 PMID:17526729 PMID:17640059 PMID:17661816 PMID:17688370 PMID:17906660 PMID:17919893 PMID:17922902 PMID:17967880 PMID:17992257 PMID:17997830 PMID:18205710 PMID:18209888 PMID:18446368 PMID:18544564 PMID:18551016 PMID:18567581 PMID:18580449 PMID:18584357 PMID:18676741 PMID:18685280 PMID:18836774 PMID:19009041 PMID:19029228 PMID:19030229 PMID:19096585 PMID:19215943 PMID:19228690 PMID:19252526 PMID:19258401 PMID:19270817 PMID:19280651 PMID:19293973 PMID:19304954 PMID:19309509 PMID:19336503 PMID:19408298 PMID:19464396 PMID:19494350 PMID:19574279 PMID:19602254 PMID:19620968 PMID:19694021 PMID:19734639 PMID:19763184 PMID:19764026 PMID:19808854 PMID:19906784 PMID:19949673 PMID:19958924 PMID:19996202 PMID:20034980 PMID:20054297 PMID:20120764 PMID:20151405 PMID:20233476 PMID:20351605 PMID:20388653 PMID:20447124 PMID:20518900 PMID:20560986 PMID:20567917 PMID:20583150 PMID:20660572 PMID:20846682 PMID:20850701 PMID:20855504 PMID:20952280 PMID:21204227 PMID:21258414 PMID:21362373 PMID:21389259 PMID:21454469 PMID:21463266 PMID:21606165 PMID:21685897 PMID:21713522 PMID:21715564 PMID:21784903 PMID:21876117 PMID:21972040 PMID:21993671 PMID:22071692 PMID:22105611 PMID:22105711 PMID:22156657 PMID:22234250 PMID:22241717 PMID:22357542 PMID:22393103 PMID:22438210 PMID:22462637 PMID:22517557 PMID:22649785 PMID:22683710 PMID:22799452 PMID:22825683 PMID:23015148 PMID:23036577 PMID:23070752 PMID:23102223 PMID:23298237 PMID:23315997 PMID:23318261 PMID:23384228 PMID:23403324 PMID:23434161 PMID:23512077 PMID:23541568 PMID:23606570 PMID:23660872 PMID:23673869 PMID:23772956 PMID:23788753 PMID:23840444 PMID:23842656 PMID:23845641 PMID:23859443 PMID:23990664 PMID:23990666 PMID:24033266 PMID:24055113 PMID:24102379 PMID:24115288 PMID:24132471 PMID:24134185 PMID:24206762 PMID:24301059 PMID:24339559 PMID:24446253 PMID:24466223 PMID:24555745 PMID:24581539 PMID:24583008 PMID:24678776 PMID:24707167 PMID:24727139 PMID:24728327 PMID:24729484 PMID:24969085 PMID:25078357 PMID:25119015 PMID:25157968 PMID:25282218 PMID:25371412 PMID:25557216 PMID:25562111 PMID:25563310 PMID:25583177 PMID:25586603 PMID:25637381 PMID:25715769 PMID:25720320 PMID:25741868 PMID:25867206 PMID:25952756 PMID:25966224 PMID:25985138 PMID:26206375 PMID:26211615 PMID:26268347 PMID:26332594 PMID:26467025 PMID:26503325 PMID:26580448 PMID:26681312 PMID:26763786 PMID:26822237 PMID:26845104 PMID:26920352 PMID:26973240 PMID:27034144 PMID:27057652 PMID:27146957 PMID:27179072 PMID:27311873 PMID:27439424 PMID:27498913 PMID:27527340 PMID:27530247 PMID:27539324 PMID:27617348 PMID:27651169 PMID:27730413 PMID:27785399 PMID:28052007 PMID:28166811 PMID:28202063 PMID:28349240 PMID:28379443 PMID:28388566 PMID:28454591 PMID:28469506 PMID:28492532 PMID:28503092 PMID:28643803 PMID:28775317 PMID:28873162 PMID:28944243 PMID:29124493 PMID:29616089 PMID:29748190 PMID:29749453 PMID:29790589 PMID:29871882 PMID:29891534 PMID:29949369 PMID:29978187 PMID:30042107 PMID:30105105 PMID:30185211 PMID:30338240 PMID:30943211 PMID:31034483 PMID:31149315 PMID:31397861 PMID:31528828 PMID:31779674 PMID:32238909
NCBI chr 4:145,580,869...145,587,835
Ensembl chr 4:145,580,799...145,587,845
G
Tmtc4
transmembrane O-mannosyltransferase targeting cadherins 4
ISO
ClinVar Annotator: match by null
ClinVar
PMID:24375697
NCBI chr15:109,338,762...109,394,905
Ensembl chr15:109,339,564...109,394,927
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all