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: hemangioma
Accession: DOID:255
browse the term
Definition: A cardiovascular organ benign neoplasm that has_material_basis_in endothelial cells that line blood vessels and is characterized by increased number of normal or abnormal vessels filled with blood. (DO)
Synonyms: exact_synonym: angioma; chorangioma; chorangiomas; hemangiomas
narrow_synonym: glabellar hemangioma
primary_id: MESH:D006391
xref: EFO:0009908 ; EFO:1000635 ; ICD9CM:228.00 ; ICDO:9120/0; NCI:C3085
For additional species annotation, visit the
Alliance of Genome Resources .
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Foxo1
forkhead box O1
ISO
RGD
PMID:17254969
RGD:155630604
NCBI chr 2:136,312,168...136,390,603
Ensembl chr 2:136,312,168...136,387,790
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Foxo3
forkhead box O3
ISO
RGD
PMID:17254969
RGD:155630604
NCBI chr20:45,669,708...45,764,606
Ensembl chr20:45,672,995...45,764,561
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Foxo4
forkhead box O4
ISO
RGD
PMID:17254969
RGD:155630604
NCBI chr X:66,385,241...66,392,115
Ensembl chr X:66,385,558...66,392,115
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Foxp1
forkhead box P1
ISO
ClinVar Annotator: match by term: Glabellar hemangioma
ClinVar
PMID:25741868
NCBI chr 4:131,559,599...132,155,092
Ensembl chr 4:131,564,756...132,112,258
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Idh1
isocitrate dehydrogenase (NADP(+)) 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22057234
NCBI chr 9:66,534,146...66,563,703
Ensembl chr 9:66,534,146...66,563,708
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Idh2
isocitrate dehydrogenase (NADP(+)) 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22057234
NCBI chr 1:134,038,644...134,057,969
Ensembl chr 1:134,029,772...134,058,025
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Mmp2
matrix metallopeptidase 2
ISO
RGD
PMID:19821096
RGD:8657063
NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870
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Notch1
notch receptor 1
ISO
ClinVar Annotator: match by term: Hemangioma
ClinVar
PMID:25741868
NCBI chr 3:9,277,955...9,323,531
Ensembl chr 3:9,278,086...9,323,531
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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:9467011 PMID:21194675 PMID:28492532
NCBI chr 1:230,630,443...230,697,070
Ensembl chr 1:230,630,338...230,696,838
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Slc2a1
solute carrier family 2 member 1
ISO
RGD
PMID:10665907
RGD:12879499
NCBI chr 5:132,717,196...132,745,416
Ensembl chr 5:132,717,196...132,745,416
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Srd5a3
steroid 5 alpha-reductase 3
ISO
ClinVar Annotator: match by term: Hemangioma
ClinVar
PMID:25741868 PMID:28492532
NCBI chr14:32,046,408...32,060,796
Ensembl chr14:32,046,408...32,060,747
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Tsc2
TSC complex subunit 2
ISO
RGD
PMID:10096549
RGD:11568655
NCBI chr10:13,621,135...13,655,773
Ensembl chr10:13,621,136...13,655,951
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Yap1
Yes1 associated transcriptional regulator
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:31351048
NCBI chr 8:5,095,705...5,166,808
Ensembl chr 8:5,095,722...5,167,010
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Gla
galactosidase, alpha
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:19925601
NCBI chr X:97,769,227...97,780,646
Ensembl chr X:97,768,996...97,780,664
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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 7:113,846,358...113,855,430
Ensembl chr 7:113,846,374...113,855,315
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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 4:30,333,678...30,457,781
Ensembl chr 4:30,333,677...30,457,781
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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 4:30,299,203...30,333,366
Ensembl chr 4:30,299,203...30,333,359
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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 chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131
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Ackr1
atypical chemokine receptor 1
IEP
RGD
PMID:24429330
RGD:9681736
NCBI chr13:85,782,396...85,784,015
Ensembl chr13:85,782,398...85,783,983
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Angpt2
angiopoietin 2
IEP
mRNA:increased expression:lung (rat)
RGD
PMID:18692629
RGD:2314184
NCBI chr16:71,088,364...71,138,805
Ensembl chr16:71,088,364...71,138,804
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Arrb1
arrestin, beta 1
IEP
mRNA, protein:altered expression:left ventricle (rat)
RGD
PMID:22015551
RGD:5509867
NCBI chr 1:153,837,964...153,912,111
Ensembl chr 1:153,838,078...153,904,061
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Arrb2
arrestin, beta 2
IEP
mRNA, protein:altered expression:left ventricle (rat)
RGD
PMID:22015551
RGD:5509867
NCBI chr10:55,146,887...55,154,854
Ensembl chr10:55,146,818...55,154,850
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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 chr10:79,883,622...79,900,625
Ensembl chr10:79,883,622...79,900,624
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Des
desmin
IEP
RGD
PMID:10591032
RGD:13525010
NCBI chr 9:76,850,979...76,858,695
Ensembl chr 9:76,850,982...76,858,699
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Fgf2
fibroblast growth factor 2
ISO
RGD
PMID:10541235
RGD:8655590
NCBI chr 2:120,236,328...120,290,673
Ensembl chr 2:120,236,328...120,291,221
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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 chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870
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Mmp9
matrix metallopeptidase 9
treatment
IEP ISO
RGD
PMID:17398390 PMID:23924957
RGD:1642040 , RGD:13204800
NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
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Nos3
nitric oxide synthase 3
IEP
protein:increased expression:vena cava
RGD
PMID:17344190
RGD:2292146
NCBI chr 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166
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Rbp4
retinol binding protein 4
exacerbates
ISO
protein:increased expression:blood serum (human)
RGD
PMID:33556944
RGD:329845868
NCBI chr 1:235,893,917...235,901,315
Ensembl chr 1:235,893,917...235,901,399
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Timp4
TIMP metallopeptidase inhibitor 4
IEP
protein:decreased expression:ileal vein
RGD
PMID:17398390
RGD:1642040
NCBI chr 4:148,306,021...148,312,558
Ensembl chr 4:148,304,490...148,312,558
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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 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641
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Acvrl1
activin A receptor like type 1
ISO
RGD
PMID:11062473
RGD:1300250
NCBI chr 7:132,239,200...132,256,592
Ensembl chr 7:132,239,729...132,256,591
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Eng
endoglin
susceptibility
ISO
associated with Telangiectasia, Hereditary Hemorrhagic;
RGD
PMID:8728706 PMID:24520391
RGD:11041184 , RGD:11041564
NCBI chr 3:15,934,566...15,972,618
Ensembl chr 3:15,934,518...15,973,230
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Ephb4
EPH receptor B4
ISO
ClinVar Annotator: match by term: Arteriovenous malformation
ClinVar
PMID:25741868 PMID:28687708 PMID:30578106 PMID:30760892
NCBI chr12:19,326,411...19,351,667
Ensembl chr12:19,326,427...19,351,314
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Glmn
glomulin, FKBP associated protein
ISO
glomuvenous malformations
RGD
PMID:11845407
RGD:1598992
NCBI chr14:2,187,144...2,231,295
Ensembl chr14:2,187,642...2,230,420
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Map2
microtubule-associated protein 2
IEP
protein:decreased expression:hippocampus
RGD
PMID:20873448
RGD:6483324
NCBI chr 9:67,723,422...67,981,886
Ensembl chr 9:67,723,371...67,979,809
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Mir10a
microRNA 10a
ISO
miRNA:decreased expression:blood plasma (human)
RGD
PMID:23051042
RGD:155582214
NCBI chr10:81,283,171...81,283,280
Ensembl chr10:81,283,171...81,283,280
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Mir193a
microRNA 193a
ISO
miRNA:decreased expression:blood plasma (human)
RGD
PMID:23051042
RGD:155582214
NCBI chr10:64,672,343...64,672,454
Ensembl chr10:64,672,343...64,672,454
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Mir210
microRNA 210
ISO
associated with hereditary hemorrhagic telangiectasia; miRNA:increased expression:blood plasma (human)
RGD
PMID:23051042
RGD:155582214
NCBI chr 1:196,326,343...196,326,452
Ensembl chr 1:196,326,337...196,326,454
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Mir214
microRNA 214
ISO
miRNA:increased expression:blood plasma (human)
RGD
PMID:23051042
RGD:155582214
NCBI chr13:74,588,374...74,588,481
Ensembl chr13:74,588,372...74,588,481
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Mir34a
microRNA 34a
ISO
miRNA:increased expression:blood plasma (human)
RGD
PMID:23051042
RGD:155582214
NCBI chr 5:160,533,002...160,533,103
Ensembl chr 5:160,533,002...160,533,103
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Mir486
microRNA 486
ISO
miRNA:increased expression:blood plasma (human)
RGD
PMID:23051042
RGD:155582214
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Mmp9
matrix metallopeptidase 9
ISO
RGD
PMID:16720380
RGD:1582655
NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
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Pik3ca
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
ISO
ClinVar Annotator: match by term: Arteriovenous malformation
ClinVar
NCBI chr 2:115,175,275...115,249,034
Ensembl chr 2:115,174,984...115,249,032
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Rasa1
RAS p21 protein activator 1
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:14639529 PMID:15917201
RGD:1581296
NCBI chr 2:15,857,704...15,940,757
Ensembl chr 2:15,857,980...15,940,854
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Tek
TEK receptor tyrosine kinase
susceptibility
ISO
DNA:missense mutation: :p.R849W
RGD
PMID:8980225
RGD:1578533
NCBI chr 5:109,607,077...109,733,805
Ensembl chr 5:109,607,077...109,733,804
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Acvrl1
activin A receptor like type 1
ISS
OMIM:108010
MouseDO
NCBI chr 7:132,239,200...132,256,592
Ensembl chr 7:132,239,729...132,256,591
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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 2:11,331,434...11,911,713
Ensembl chr 2:11,331,442...11,911,688
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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 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:19571295 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:21639808 PMID:21683865 PMID:21975775 PMID:22038996 PMID:22039425 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:24163374 PMID:24388723 PMID:24508103 PMID:24512911 PMID:24576830 PMID:24583796 PMID:24586605 PMID:24594804 PMID:24670642 PMID:24717435 PMID:25024077 PMID:25079330 PMID:25157968 PMID:25370471 PMID:25741868 PMID:25950823 PMID:25989278 PMID:26619011 PMID:26678033 PMID:28854169 PMID:29925953 PMID:31891627 PMID:34476331 More...
NCBI chr 4:68,375,484...68,510,652
Ensembl chr 4:68,384,649...68,510,463
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Cacna1h
calcium voltage-gated channel subunit alpha1 H
ISO
ClinVar Annotator: match by term: Cerebral arteriovenous malformation
ClinVar
PMID:25741868 PMID:28492532
NCBI chr10:14,390,104...14,448,204
Ensembl chr10:14,390,113...14,448,376
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Cdh2
cadherin 2
ISO
ClinVar Annotator: match by term: Cerebral arteriovenous malformation
ClinVar
PMID:25741868
NCBI chr18:7,776,704...7,990,934
Ensembl chr18:7,776,704...7,990,167
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Egfr
epidermal growth factor receptor
ISO
ClinVar Annotator: match by term: Cerebral arteriovenous malformation
ClinVar
PMID:25741868
NCBI chr14:91,176,979...91,349,722
Ensembl chr14:91,177,067...91,344,382
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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 RGD
PMID:15879500 PMID:25741868 PMID:28492532 PMID:30120215 PMID:24876084 PMID:24520391 More...
RGD:11041171 , RGD:11041564
NCBI chr 3:15,934,566...15,972,618
Ensembl chr 3:15,934,518...15,973,230
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Flt1
Fms related receptor tyrosine kinase 1
ISO
protein:increased expression:endothelial cell:
RGD
PMID:11220380
RGD:8551824
NCBI chr12:7,296,899...7,468,626
Ensembl chr12:7,297,292...7,468,626
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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 chr13:29,946,882...30,163,589
Ensembl chr13:29,946,809...30,163,574
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Il17rd
interleukin 17 receptor D
ISO
ClinVar Annotator: match by term: Cerebral arteriovenous malformation
ClinVar
PMID:25636053 PMID:25741868 PMID:28492532 PMID:32389901
NCBI chr16:2,228,438...2,295,122
Ensembl chr16:2,228,287...2,292,556
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Il6
interleukin 6
ISO
CTD Direct Evidence: marker/mechanism
CTD OMIM
NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
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Kdr
kinase insert domain receptor
ISO
protein:increased expression:endothelial cell:
RGD
PMID:11220380
RGD:8551824
NCBI chr14:32,217,871...32,261,018
Ensembl chr14:32,217,871...32,261,018
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Kras
KRAS proto-oncogene, GTPase
ISO ISS
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:108010 CTD Direct Evidence: marker/mechanism
OMIM ClinVar MouseDO CTD
PMID:2278970 PMID:3122217 PMID:7773929 PMID:8439212 PMID:12110640 PMID:12460918 PMID:12720172 PMID:14982869 PMID:15093544 PMID:15696205 PMID:15842656 PMID:16361624 PMID:16434492 PMID:16474404 PMID:16474405 PMID:16618717 PMID:16773572 PMID:17056636 PMID:17324647 PMID:17332249 PMID:17384584 PMID:17409930 PMID:17551339 PMID:17704260 PMID:17875937 PMID:17910045 PMID:18316791 PMID:18456719 PMID:18628094 PMID:18794081 PMID:19018267 PMID:19029981 PMID:19047918 PMID:19075190 PMID:19114683 PMID:19255327 PMID:19349489 PMID:19358724 PMID:19679400 PMID:19773371 PMID:19881948 PMID:20609353 PMID:20652921 PMID:20805368 PMID:20921462 PMID:20921465 PMID:20949522 PMID:20949621 PMID:21044336 PMID:21062266 PMID:21079152 PMID:21169357 PMID:21228335 PMID:21398618 PMID:21871821 PMID:21975775 PMID:22025163 PMID:22235099 PMID:22407852 PMID:22499344 PMID:22683711 PMID:22722830 PMID:22897852 PMID:23014527 PMID:23096712 PMID:23255105 PMID:23325582 PMID:23406027 PMID:24033266 PMID:24138715 PMID:24703799 PMID:24803665 PMID:25044103 PMID:25157968 PMID:25326637 PMID:25695684 PMID:25741868 PMID:26242988 PMID:26372703 PMID:26619011 PMID:28492532 PMID:29298116 PMID:29948256 PMID:30443000 PMID:31891627 PMID:35794233 More...
NCBI chr 4:178,185,418...178,218,484
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Lemd3
LEM domain containing 3
ISO
ClinVar Annotator: match by term: Cerebral arteriovenous malformation
ClinVar
PMID:25741868
NCBI chr 7:56,415,053...56,499,047
Ensembl chr 7:56,305,448...56,502,474
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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 9:42,200,708...42,326,708
Ensembl chr 9:42,200,278...42,326,698
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Nlrp3
NLR family, pyrin domain containing 3
ISO
ClinVar Annotator: match by term: Cerebral arteriovenous malformation
ClinVar
NCBI chr10:44,326,770...44,353,814
Ensembl chr10:44,328,566...44,352,811
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Notch4
notch receptor 4
ISO ISS
OMIM:108010 ClinVar Annotator: match by term: Cerebral arteriovenous malformation
MouseDO ClinVar RGD
PMID:25741868 PMID:27231971 PMID:19546852
RGD:6480671
NCBI chr20:4,160,362...4,184,466
Ensembl chr20:4,160,445...4,184,465
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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 PMID:25741868 PMID:28492532 More...
NCBI chr 2:160,303,465...160,346,086
Ensembl chr 2:160,303,449...160,346,018
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Pitpnm3
PITPNM family member 3
ISO
ClinVar Annotator: match by term: Cerebral arteriovenous malformation
ClinVar
PMID:25741868
NCBI chr10:56,674,697...56,766,552
Ensembl chr10:56,676,261...56,766,584
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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 5:7,937,692...8,253,112
Ensembl chr 5:7,942,573...8,253,068
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Sars1
seryl-tRNA synthetase 1
ISO
ClinVar Annotator: match by term: Cerebral arteriovenous malformation
ClinVar
PMID:25741868
NCBI chr 2:196,065,543...196,081,240
Ensembl chr 2:196,065,430...196,081,277
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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 1:163,831,876...163,899,925
Ensembl chr 1:163,832,015...163,899,393
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Syn3
synapsin III
ISO
ClinVar Annotator: match by term: Cerebral arteriovenous malformation
ClinVar
PMID:25741868
NCBI chr 7:16,216,055...17,808,790
Ensembl chr 7:17,376,372...17,808,790
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Timp3
TIMP metallopeptidase inhibitor 3
ISO
ClinVar Annotator: match by term: Cerebral arteriovenous malformation
ClinVar
PMID:25741868
NCBI chr 7:17,520,827...17,571,850
Ensembl chr 7:17,521,919...17,571,839
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Vegfa
vascular endothelial growth factor A
ISO
RGD
PMID:16388189
RGD:1580567
NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641
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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 2:23,713,018...23,757,576
Ensembl chr 2:23,713,766...23,756,990
G
Egfr
epidermal growth factor receptor
ISO
ClinVar Annotator: match by term: Cowden syndrome 1
ClinVar
NCBI chr14:91,176,979...91,349,722
Ensembl chr14:91,177,067...91,344,382
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 PMID:21417916 PMID:21532617 PMID:24033266 PMID:25669429 PMID:25741868 PMID:26467025 PMID:27535533 PMID:27878467 PMID:27884173 PMID:28492532 More...
G
Ldlr
low density lipoprotein receptor
ISO
ClinVar Annotator: match by term: Cowden syndrome 1
ClinVar
PMID:20538126 PMID:21376320 PMID:25487149 PMID:25647241 PMID:25741868 PMID:27050191 PMID:28492532 PMID:28502495 PMID:31980526 PMID:33994402 More...
NCBI chr 8:20,270,020...20,292,981
Ensembl chr 8:20,270,041...20,294,580
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 PMID:16906227 PMID:16930767 PMID:18676830 PMID:18725974 PMID:19029981 PMID:19366826 PMID:19513541 PMID:19903786 PMID:20453058 PMID:20619739 PMID:21430269 PMID:22162582 PMID:22162589 PMID:22271473 PMID:22658544 PMID:22729222 PMID:23100325 PMID:23946963 PMID:25157968 PMID:25599672 PMID:25681199 PMID:25741868 PMID:26619011 PMID:26627007 PMID:27631024 PMID:28492532 PMID:29446767 PMID:34496175 PMID:34568242 PMID:34606700 PMID:37667289 More...
NCBI chr 2:115,175,275...115,249,034
Ensembl chr 2:115,174,984...115,249,032
G
Pten
phosphatase and tensin homolog
ISS ISO
OMIM:158350 ClinVar Annotator: match by term: Bannayan-Riley-Ruvalcaba syndrome | ClinVar Annotator: match by term: Cowden syndrome 1 | ClinVar Annotator: match by term: Macrocephaly pseudopapilledema and multiple hemangiomas
MouseDO ClinVar OMIM
PMID:1097835 PMID:1336932 PMID:1945792 PMID:2333580 PMID:2338203 PMID:7728760 PMID:8071972 PMID:8673088 PMID:8980400 PMID:9140396 PMID:9241266 PMID:9256433 PMID:9259288 PMID:9265751 PMID:9288766 PMID:9326929 PMID:9356475 PMID:9399897 PMID:9425889 PMID:9467011 PMID:9536098 PMID:9598803 PMID:9600246 PMID:9619835 PMID:9685848 PMID:9735393 PMID:9740666 PMID:9788441 PMID:9794233 PMID:9811831 PMID:9832031 PMID:9832032 PMID:9856571 PMID:9915974 PMID:10051603 PMID:10076877 PMID:10232405 PMID:10234502 PMID:10353779 PMID:10400993 PMID:10468583 PMID:10554022 PMID:10555148 PMID:10606430 PMID:10698513 PMID:10698713 PMID:10749983 PMID:10772390 PMID:10772829 PMID:10777358 PMID:10848731 PMID:10866302 PMID:10866658 PMID:10920277 PMID:10923032 PMID:10978354 PMID:11035045 PMID:11051241 PMID:11052475 PMID:11071384 PMID:11156408 PMID:11234884 PMID:11238682 PMID:11274365 PMID:11332402 PMID:11448956 PMID:11476841 PMID:11504908 PMID:11668501 PMID:11685670 PMID:11748304 PMID:11875759 PMID:11886535 PMID:11918710 PMID:11948419 PMID:12015762 PMID:12075083 PMID:12085208 PMID:12208743 PMID:12297295 PMID:12372056 PMID:12414663 PMID:12471211 PMID:12614768 PMID:12808147 PMID:12833416 PMID:12844284 PMID:12938083 PMID:14518070 PMID:14566704 PMID:14623110 PMID:14675182 PMID:15016963 PMID:15120218 PMID:15211648 PMID:15254419 PMID:15355975 PMID:15372512 PMID:15492994 PMID:15531530 PMID:15647370 PMID:15659546 PMID:15805158 PMID:16007494 PMID:16014636 PMID:16021145 PMID:16199547 PMID:16506206 PMID:16619501 PMID:16704655 PMID:16752378 PMID:16773562 PMID:16894538 PMID:16952599 PMID:17043057 PMID:17167516 PMID:17213812 PMID:17286265 PMID:17324556 PMID:17392703 PMID:17427195 PMID:17526800 PMID:17526801 PMID:17576681 PMID:17847000 PMID:17873119 PMID:17873882 PMID:17898811 PMID:17928923 PMID:17941496 PMID:17942903 PMID:17954274 PMID:18025323 PMID:18080326 PMID:18558293 PMID:18594467 PMID:18626099 PMID:18725974 PMID:18757403 PMID:18767981 PMID:18781614 PMID:18986487 PMID:19190598 PMID:19265751 PMID:19340001 PMID:19351834 PMID:19366826 PMID:19457929 PMID:19458356 PMID:19622968 PMID:19829307 PMID:19903786 PMID:19968660 PMID:20018398 PMID:20049735 PMID:20085938 PMID:20194734 PMID:20223021 PMID:20300775 PMID:20301661 PMID:20453058 PMID:20533527 PMID:20600018 PMID:20619739 PMID:20685300 PMID:20712882 PMID:20718038 PMID:20785012 PMID:20881644 PMID:20926450 PMID:20962022 PMID:21103832 PMID:21190448 PMID:21194675 PMID:21291452 PMID:21333374 PMID:21343951 PMID:21417916 PMID:21475810 PMID:21532617 PMID:21659347 PMID:21822720 PMID:21824802 PMID:21828076 PMID:21869887 PMID:21956414 PMID:22005521 PMID:22076652 PMID:22162582 PMID:22162589 PMID:22261759 PMID:22266152 PMID:22281088 PMID:22320991 PMID:22327138 PMID:22371648 PMID:22381246 PMID:22413754 PMID:22469695 PMID:22479427 PMID:22491738 PMID:22503188 PMID:22505997 PMID:22520842 PMID:22536362 PMID:22558107 PMID:22595938 PMID:22628360 PMID:22703879 PMID:22911484 PMID:22962422 PMID:22970944 PMID:23066114 PMID:23117110 PMID:23160955 PMID:23161105 PMID:23315997 PMID:23335809 PMID:23349303 PMID:23361946 PMID:23382303 PMID:23399955 PMID:23423780 PMID:23442912 PMID:23470840 PMID:23475934 PMID:23555315 PMID:23613428 PMID:23633456 PMID:23695273 PMID:23744781 PMID:23757202 PMID:23764071 PMID:23825907 PMID:23886400 PMID:23930209 PMID:23934111 PMID:23934601 PMID:24022303 PMID:24033266 PMID:24052722 PMID:24055113 PMID:24099866 PMID:24123798 PMID:24136893 PMID:24292679 PMID:24345843 PMID:24375884 PMID:24379037 PMID:24404930 PMID:24468202 PMID:24498881 PMID:24721394 PMID:24728327 PMID:24763289 PMID:24766807 PMID:24768297 PMID:24778394 PMID:24901346 PMID:24905788 PMID:25132236 PMID:25148578 PMID:25157968 PMID:25186627 PMID:25288137 PMID:25326635 PMID:25336918 PMID:25418537 PMID:25437057 PMID:25448482 PMID:25525159 PMID:25527629 PMID:25549896 PMID:25647146 PMID:25669429 PMID:25722288 PMID:25741868 PMID:25756585 PMID:25875300 PMID:25910213 PMID:25980754 PMID:26076150 PMID:26082588 PMID:26099045 PMID:26124082 PMID:26157835 PMID:26229595 PMID:26246517 PMID:26302789 PMID:26376867 PMID:26418532 PMID:26467025 PMID:26468640 PMID:26492180 PMID:26504226 PMID:26517354 PMID:26534844 PMID:26572169 PMID:26579216 PMID:26580448 PMID:26612463 PMID:26619011 PMID:26633542 PMID:26637798 PMID:26665196 PMID:26681312 PMID:26773036 PMID:26787237 PMID:26795104 PMID:26798346 PMID:26800850 PMID:26845104 PMID:26898890 PMID:26919320 PMID:27157322 PMID:27324988 PMID:27405757 PMID:27426521 PMID:27428751 PMID:27477328 PMID:27481051 PMID:27489861 PMID:27514801 PMID:27531073 PMID:27535533 PMID:27829222 PMID:27878467 PMID:27884173 PMID:27978560 PMID:28008555 PMID:28013114 PMID:28086757 PMID:28135145 PMID:28235761 PMID:28251007 PMID:28263967 PMID:28286253 PMID:28418444 PMID:28454995 PMID:28475857 PMID:28492532 PMID:28497778 PMID:28523199 PMID:28526761 PMID:28600779 PMID:28655553 PMID:28677221 PMID:28724667 PMID:28741261 PMID:28774669 PMID:28873162 PMID:29043291 PMID:29273943 PMID:29282348 PMID:29296277 PMID:29359449 PMID:29371908 PMID:29373119 PMID:29444762 PMID:29496690 PMID:29510612 PMID:29594054 PMID:29608813 PMID:29663862 PMID:29706350 PMID:29706633 PMID:29706646 PMID:29720545 PMID:29752200 PMID:29758562 PMID:29785012 PMID:29806868 PMID:29874181 PMID:29927861 PMID:29931205 PMID:29970488 PMID:30181857 PMID:30287823 PMID:30311369 PMID:30311380 PMID:30327747 PMID:30443844 PMID:30482242 PMID:30528446 PMID:30544257 PMID:30614812 PMID:30659124 PMID:30680046 PMID:30720243 PMID:30763456 PMID:30809968 PMID:30978501 PMID:31006514 PMID:31079897 PMID:31144778 PMID:31149344 PMID:31159747 PMID:31199785 PMID:31209962 PMID:31220904 PMID:31336731 PMID:31567591 PMID:31594918 PMID:31636093 PMID:31664961 PMID:31970404 PMID:32003824 PMID:32123317 PMID:32150788 PMID:32162695 PMID:32185379 PMID:32190315 PMID:32196895 PMID:32238909 PMID:32295079 PMID:32350270 PMID:32366478 PMID:32378608 PMID:32442409 PMID:32461083 PMID:32461654 PMID:32664367 PMID:32670512 PMID:32832836 PMID:32885271 PMID:32959437 PMID:33077954 PMID:33083010 PMID:33088792 PMID:33372952 PMID:33471991 PMID:33482532 PMID:33600059 PMID:33723755 PMID:33876391 PMID:33887726 PMID:34184188 PMID:34268892 PMID:34308366 PMID:34326862 PMID:34386506 PMID:34518631 PMID:34625746 PMID:34906515 PMID:35227301 PMID:35241692 PMID:35264596 PMID:35931053 PMID:35982159 PMID:36270489 PMID:36988593 PMID:37035742 PMID:37090027 PMID:37673932 PMID:37819013 PMID:38311546 PMID:38546160 More...
NCBI chr 1:230,630,443...230,697,070
Ensembl chr 1:230,630,338...230,696,838
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 PMID:25694510 PMID:25741868 PMID:26467025 PMID:28492532 PMID:30152102 More...
NCBI chr 5:153,264,906...153,285,570
Ensembl chr 5:153,264,899...153,314,293
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 PMID:28969385 PMID:29286531 PMID:29758562 PMID:33176815 More...
NCBI chr13:88,943,708...89,225,831
Ensembl chr13:88,946,091...89,225,708
G
Ccn1
cellular communication network factor 1
disease_progression
ISO
mRNA:increased expression:skin (human)
RGD
PMID:33587560
RGD:329845523
NCBI chr 2:234,562,410...234,565,370
Ensembl chr 2:234,562,408...234,565,484
G
Npc1
NPC intracellular cholesterol transporter 1
ISO
ClinVar Annotator: match by term: Capillary hemangioma
ClinVar
PMID:25741868
NCBI chr18:3,379,482...3,425,100
Ensembl chr18:3,379,482...3,425,049
G
Ccnh
cyclin H
ISO
ClinVar Annotator: match by term: Capillary malformation-arteriovenous malformation | ClinVar Annotator: match by term: Capillary malformation-arteriovenous malformation syndrome
ClinVar
PMID:9219684 PMID:9536098 PMID:14639529 PMID:15574420 PMID:16199547 PMID:17576681 PMID:18363760 PMID:18446851 PMID:22200646 PMID:23164092 PMID:23650393 PMID:23687085 PMID:24038909 PMID:24139535 PMID:24274751 PMID:25040287 PMID:25741868 PMID:26499346 PMID:26969842 PMID:27081547 PMID:27535533 PMID:28295764 PMID:28492532 PMID:28655553 PMID:29024832 PMID:29120072 PMID:29891884 PMID:30026675 PMID:30120215 PMID:33248299 PMID:35209959 PMID:36980822 More...
NCBI chr 2:15,835,064...15,855,648
Ensembl chr 2:15,834,833...15,855,819
G
Ephb4
EPH receptor B4
ISO
ClinVar Annotator: match by term: Capillary malformation-arteriovenous malformation syndrome
ClinVar
PMID:25741868
NCBI chr12:19,326,411...19,351,667
Ensembl chr12:19,326,427...19,351,314
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 CTD Direct Evidence: marker/mechanism
ClinVar CTD RGD
PMID:9219684 PMID:9536098 PMID:14639529 PMID:15574420 PMID:16199547 PMID:17576681 PMID:18363760 PMID:18446851 PMID:21626678 PMID:22200646 PMID:23164092 PMID:23650393 PMID:23687085 PMID:23801933 PMID:24038909 PMID:24139535 PMID:24274751 PMID:25040287 PMID:25640679 PMID:25741868 PMID:26499346 PMID:26774077 PMID:26969842 PMID:27081547 PMID:27535533 PMID:28295764 PMID:28492532 PMID:28655553 PMID:29024832 PMID:29110021 PMID:29120072 PMID:29171923 PMID:29891884 PMID:30026675 PMID:30120215 PMID:33248299 PMID:35209959 PMID:36980822 PMID:14639529 More...
RGD:734495
NCBI chr 2:15,857,704...15,940,757
Ensembl chr 2:15,857,980...15,940,854
G
Stambp
Stam binding protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23542699
NCBI chr 4:116,055,563...116,083,563
Ensembl chr 4:116,056,057...116,080,543
G
Ccnh
cyclin H
ISO
ClinVar Annotator: match by term: CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 1 | ClinVar Annotator: match by term: Capillary malformation-arteriovenous malformation 1
ClinVar
PMID:9219684 PMID:14639529 PMID:15574420 PMID:16199547 PMID:18363760 PMID:18446851 PMID:23164092 PMID:24038909 PMID:25040287 PMID:25741868 PMID:26499346 PMID:27081547 PMID:27535533 PMID:28492532 PMID:28655553 PMID:29891884 PMID:33248299 PMID:33461977 PMID:36980822 PMID:37767822 More...
NCBI chr 2:15,835,064...15,855,648
Ensembl chr 2:15,834,833...15,855,819
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 PMID:12720172 PMID:15093544 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:20805368 PMID:20921462 PMID:20921465 PMID:20949522 PMID:21079152 PMID:21228335 PMID:21975775 PMID:22025163 PMID:22407852 PMID:22499344 PMID:22683711 PMID:23014527 PMID:23096712 PMID:23255105 PMID:23406027 PMID:25044103 PMID:25157968 PMID:25695684 PMID:25741868 PMID:28492532 PMID:29298116 PMID:30443000 PMID:31891627 PMID:35794233 More...
NCBI chr 4:178,185,418...178,218,484
G
Pik3ca
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
ISO
ClinVar Annotator: match by term: Capillary malformation-arteriovenous malformation 1
ClinVar
NCBI chr 2:115,175,275...115,249,034
Ensembl chr 2:115,174,984...115,249,032
G
Rasa1
RAS p21 protein activator 1
ISO
ClinVar Annotator: match by term: CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 1 | ClinVar Annotator: match by term: Capillary malformation-arteriovenous malformation 1
OMIM ClinVar
PMID:9219684 PMID:14639529 PMID:15574420 PMID:16199547 PMID:18363760 PMID:18446851 PMID:22200646 PMID:23164092 PMID:23801933 PMID:24038909 PMID:25040287 PMID:25741868 PMID:26499346 PMID:27081547 PMID:27535533 PMID:28492532 PMID:28655553 PMID:29171923 PMID:29891884 PMID:33248299 PMID:33461977 PMID:36980822 PMID:37767822 More...
NCBI chr 2:15,857,704...15,940,757
Ensembl chr 2:15,857,980...15,940,854
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 PMID:27400125 PMID:28492532 PMID:28687708 PMID:28730721 PMID:29444212 PMID:29905864 PMID:30578106 PMID:30760892 PMID:30819650 PMID:32267001 PMID:33240318 PMID:36813543 More...
NCBI chr12:19,326,411...19,351,667
Ensembl chr12:19,326,427...19,351,314
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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 chr12:19,368,990...19,385,881
Ensembl chr12:19,369,004...19,385,877
G
Ccm2
CCM2 scaffold protein
ISO
ClinVar Annotator: match by term: Cavernous hemangioma
ClinVar
PMID:25741868
NCBI chr14:81,418,418...81,464,114
Ensembl chr14:81,418,236...81,464,116
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 PMID:24466005 PMID:24689081 PMID:25741868 PMID:28492532 More...
NCBI chr 4:30,299,203...30,333,366
Ensembl chr 4:30,299,203...30,333,359
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 PMID:25741868 PMID:28492532 More...
NCBI chr 2:160,303,465...160,346,086
Ensembl chr 2:160,303,449...160,346,018
G
Ccnh
cyclin H
ISO
ClinVar Annotator: match by term: Cerebral venous angioma
ClinVar
PMID:23650393 PMID:25741868 PMID:31680349
NCBI chr 2:15,835,064...15,855,648
Ensembl chr 2:15,834,833...15,855,819
G
Rasa1
RAS p21 protein activator 1
ISO
ClinVar Annotator: match by term: Cerebral venous angioma
ClinVar
PMID:23650393 PMID:25741868 PMID:31680349
NCBI chr 2:15,857,704...15,940,757
Ensembl chr 2:15,857,980...15,940,854
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 PMID:22799452 PMID:23384228 PMID:25741868 PMID:28492532 More...
NCBI chr 4:146,772,483...146,779,376
Ensembl chr 4:146,772,468...146,779,377
G
Akap9
A-kinase anchoring protein 9
ISO
ClinVar Annotator: match by term: Cerebral cavernous malformation
ClinVar
PMID:10508515 PMID:11222804 PMID:12404106 PMID:17187287 PMID:17211633 PMID:20798775 PMID:24689081 PMID:28492532 More...
NCBI chr 4:30,056,738...30,192,716
Ensembl chr 4:30,056,738...30,192,606
G
Ankib1
ankyrin repeat and IBR domain containing 1
ISO
ClinVar Annotator: match by term: Cerebral cavernous malformation
ClinVar
PMID:25741868
NCBI chr 4:30,333,678...30,457,781
Ensembl chr 4:30,333,677...30,457,781
G
Ccm2
CCM2 scaffold protein
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Cerebral cavernous malformation
CTD ClinVar
PMID:18154020 PMID:25525273 PMID:25741868 PMID:28492532
NCBI chr14:81,418,418...81,464,114
Ensembl chr14:81,418,236...81,464,116
G
Cyp51
cytochrome P450, family 51
ISO
ClinVar Annotator: match by term: Cerebral cavernous malformation
ClinVar
PMID:10508515 PMID:11222804 PMID:12404106 PMID:17187287 PMID:17211633 PMID:20798775 PMID:24689081 PMID:28492532 More...
NCBI chr 4:30,036,956...30,055,410
Ensembl chr 4:30,036,865...30,055,410 Ensembl chr 6:30,036,865...30,055,410
G
Flt1
Fms related receptor tyrosine kinase 1
ISO
protein:increased expression:endothelial cell:
RGD
PMID:11220380
RGD:8551824
NCBI chr12:7,296,899...7,468,626
Ensembl chr12:7,297,292...7,468,626
G
Kdr
kinase insert domain receptor
ISO
protein:increased expression:endothelial cell:
RGD
PMID:11220380
RGD:8551824
NCBI chr14:32,217,871...32,261,018
Ensembl chr14:32,217,871...32,261,018
G
Krit1
KRIT1, ankyrin repeat containing
susceptibility
ISO ISS
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 CTD Direct Evidence: marker/mechanism
ClinVar MouseDO CTD RGD
PMID:3393196 PMID:7898703 PMID:9065560 PMID:9536098 PMID:10508515 PMID:10545614 PMID:10814716 PMID:11161805 PMID:11222804 PMID:11914398 PMID:11941540 PMID:11959162 PMID:12404106 PMID:12810002 PMID:12854741 PMID:14755725 PMID:15079030 PMID:16199547 PMID:16321204 PMID:16571644 PMID:17187287 PMID:17211633 PMID:17277691 PMID:17440989 PMID:17562932 PMID:17576681 PMID:18060436 PMID:18300272 PMID:18380023 PMID:18383588 PMID:19088123 PMID:19099113 PMID:19454328 PMID:19763152 PMID:20301470 PMID:20306072 PMID:20307669 PMID:20419355 PMID:20798775 PMID:21029238 PMID:22406018 PMID:23584803 PMID:23595507 PMID:24007869 PMID:24401931 PMID:24466005 PMID:24689081 PMID:24721395 PMID:25525159 PMID:25525273 PMID:25640679 PMID:25741868 PMID:26467025 PMID:26682556 PMID:27766163 PMID:27790124 PMID:27792856 PMID:28000143 PMID:28492532 PMID:28645800 PMID:28745674 PMID:28867399 PMID:29593473 PMID:30161288 PMID:31124307 PMID:31254430 PMID:33651268 PMID:33891857 PMID:33911302 PMID:34558799 PMID:34634677 PMID:34964173 PMID:14755725 PMID:15079030 More...
RGD:1358458 , RGD:1598379
NCBI chr 4:30,299,203...30,333,366
Ensembl chr 4:30,299,203...30,333,359
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Lrrd1
leucine-rich repeats and death domain containing 1
ISO
ClinVar Annotator: match by term: Cerebral cavernous malformation
ClinVar
PMID:10508515 PMID:11222804 PMID:12404106 PMID:17187287 PMID:17211633 PMID:20798775 PMID:24689081 PMID:28492532 More...
NCBI chr 4:30,263,147...30,293,119
Ensembl chr 4:30,264,862...30,293,173
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Mterf1
mitochondrial transcription termination factor 1
ISO
ClinVar Annotator: match by term: Cerebral cavernous malformation
ClinVar
PMID:10508515 PMID:11222804 PMID:12404106 PMID:17187287 PMID:17211633 PMID:20798775 PMID:24689081 PMID:28492532 More...
NCBI chr 4:30,226,345...30,233,402
Ensembl chr 4:30,226,343...30,233,584
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Notch3
notch receptor 3
ISO
ClinVar Annotator: match by term: Cerebral cavernous malformation
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 7:11,132,984...11,184,025
Ensembl chr 7:11,133,706...11,184,025
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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 PMID:23801932 PMID:25741868 PMID:26896283 PMID:28492532 More...
NCBI chr 2:160,303,465...160,346,086
Ensembl chr 2:160,303,449...160,346,018
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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 4:33,294,737...33,325,759
Ensembl chr 4:33,294,722...33,321,360
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Pten
phosphatase and tensin homolog
ISO
protein:decreased expression:brain (human)
RGD
PMID:19061355
RGD:12859036
NCBI chr 1:230,630,443...230,697,070
Ensembl chr 1:230,630,338...230,696,838
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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 2:160,346,403...160,433,135
Ensembl chr 2:160,346,758...160,433,135
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Krit1
KRIT1, ankyrin repeat containing
ISO
ClinVar Annotator: match by term: Cerebral cavernous malformation 1 | ClinVar Annotator: match by term: KRIT1-Related Disorders
OMIM ClinVar
PMID:3393196 PMID:7898703 PMID:9065560 PMID:10508515 PMID:10545614 PMID:10814716 PMID:11161805 PMID:11222804 PMID:11914398 PMID:11941540 PMID:12404106 PMID:12810002 PMID:12854741 PMID:14755725 PMID:16571644 PMID:17562932 PMID:19088123 PMID:19454328 PMID:20301470 PMID:23595507 PMID:24007869 PMID:24401931 PMID:24689081 PMID:24721395 PMID:25525159 PMID:25525273 PMID:25741868 PMID:26467025 PMID:26682556 PMID:28492532 PMID:28645800 PMID:28867399 PMID:29593473 PMID:30161288 PMID:31254430 PMID:33911302 PMID:34634677 PMID:34964173 More...
NCBI chr 4:30,299,203...30,333,366
Ensembl chr 4:30,299,203...30,333,359
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Pdcd10
programmed cell death 10
ISO
ClinVar Annotator: match by term: Cerebral cavernous malformation 1
ClinVar
PMID:25741868
NCBI chr 2:160,303,465...160,346,086
Ensembl chr 2:160,303,449...160,346,018
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Ptgis
prostaglandin I2 synthase
exacerbates
ISO
DNA:silent mutation:CDS:p.L256L (rs5628) (human)
RGD
PMID:26795600
RGD:401960081
NCBI chr 3:155,928,564...155,964,228
Ensembl chr 3:155,916,412...155,965,451
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Ccm2
CCM2 scaffold protein
ISO ISS
ClinVar Annotator: match by term: Cerebral cavernous malformation 2 OMIM:603284 CTD Direct Evidence: marker/mechanism
OMIM ClinVar MouseDO CTD
PMID:2468908 PMID:9536098 PMID:14624391 PMID:14740320 PMID:15122722 PMID:16199547 PMID:17160895 PMID:17277691 PMID:17576681 PMID:18060436 PMID:18300272 PMID:19088123 PMID:19088124 PMID:19475721 PMID:20419355 PMID:23595507 PMID:24466005 PMID:24689081 PMID:25525273 PMID:25741868 PMID:26467025 PMID:27153162 PMID:27561926 PMID:27792856 PMID:28492532 PMID:28655553 PMID:29758562 PMID:30161288 PMID:31937560 PMID:32860008 PMID:35307828 More...
NCBI chr14:81,418,418...81,464,114
Ensembl chr14:81,418,236...81,464,116
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Nacad
NAC alpha domain containing
ISO
ClinVar Annotator: match by term: Cerebral cavernous malformation 2
ClinVar
PMID:17160895 PMID:28492532
NCBI chr14:81,465,299...81,473,866
Ensembl chr14:81,465,299...81,473,781
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Pdcd10
programmed cell death 10
onset exacerbates
ISO ISS
ClinVar Annotator: match by term: Cerebral cavernous malformation 3 | ClinVar Annotator: match by term: Cerebral cavernous malformations 3 DNA:deletion:CDS:c.506delA (human) DNA:mutations:multiple (human) DNA:SNPs:promoter: (rs9853967, rs11714980) (human) DNA:nonsense mutation, frameshift mutations:CDS:multiple (human) DNA:mutations:SNPs, duplications, deletions:multiple (human) DNA:deletions, nonsense mutations:multiple (human) OMIM:603285 CTD Direct Evidence: marker/mechanism
OMIM ClinVar MouseDO CTD RGD
PMID:9536098 PMID:15543491 PMID:16199547 PMID:16329096 PMID:16380626 PMID:17576681 PMID:18035376 PMID:18060436 PMID:18300272 PMID:20623299 PMID:23485406 PMID:23595507 PMID:23801932 PMID:24466005 PMID:24689081 PMID:25122144 PMID:25354366 PMID:25640679 PMID:25741868 PMID:26246098 PMID:26896283 PMID:28492532 PMID:30161288 PMID:34597987 PMID:17041941 PMID:25122144 PMID:27737651 PMID:16284570 PMID:25354366 PMID:15543491 More...
RGD:401827173 , RGD:401827115 , RGD:401827114 , RGD:401827108 , RGD:401827103 , RGD:401827102 , RGD:329961304
NCBI chr 2:160,303,465...160,346,086
Ensembl chr 2:160,303,449...160,346,018
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Serpini1
serpin family I member 1
ISO
ClinVar Annotator: match by term: Cerebral cavernous malformation 3
ClinVar
PMID:15543491 PMID:18300272 PMID:23801932 PMID:25741868 PMID:28492532
NCBI chr 2:160,346,403...160,433,135
Ensembl chr 2:160,346,758...160,433,135
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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 2:115,175,275...115,249,034
Ensembl chr 2:115,174,984...115,249,032
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Gna14
G protein subunit alpha 14
ISO
ClinVar Annotator: match by term: Cerebrofacial arteriovenous metameric syndrome
ClinVar
NCBI chr 1:213,714,993...213,900,083
Ensembl chr 1:213,716,020...213,897,423
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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 PMID:15805248 PMID:15930273 PMID:16906227 PMID:16930767 PMID:17376864 PMID:17673550 PMID:18074223 PMID:18676830 PMID:18725974 PMID:19029981 PMID:19223544 PMID:19366826 PMID:19513541 PMID:19903786 PMID:20453058 PMID:20593314 PMID:20619739 PMID:21430269 PMID:21558396 PMID:21824802 PMID:22120714 PMID:22162582 PMID:22162589 PMID:22271473 PMID:22357840 PMID:22370636 PMID:22658544 PMID:22729222 PMID:22729224 PMID:22949682 PMID:23066039 PMID:23100325 PMID:23946963 PMID:24033266 PMID:24559322 PMID:24782230 PMID:25157968 PMID:25599672 PMID:25681199 PMID:25741868 PMID:26266975 PMID:26266985 PMID:26619011 PMID:26627007 PMID:26822237 PMID:26851524 PMID:27126994 PMID:27626068 PMID:27631024 PMID:28492532 PMID:29446767 PMID:29988677 PMID:31536475 PMID:31775759 PMID:34008892 PMID:34496175 PMID:34568242 PMID:34606700 PMID:37667289 PMID:37712948 More...
NCBI chr 2:115,175,275...115,249,034
Ensembl chr 2:115,174,984...115,249,032
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Ace
angiotensin I converting enzyme
ISO
DNA:deletion:intron:IVS16+1464-1751del (human)
RGD
PMID:20488708
RGD:11039024
NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131
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Cand2
cullin-associated and neddylation-dissociated 2 (putative)
ISO
RGD
PMID:31426861
RGD:18899564
NCBI chr 4:148,835,050...148,864,039
Ensembl chr 4:148,835,053...148,863,153
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Cxcr4
C-X-C motif chemokine receptor 4
ISO
mRNA,protein:increased expression:temporal lobe :
RGD
PMID:27388534
RGD:155641257
NCBI chr13:40,077,976...40,081,883
Ensembl chr13:40,077,976...40,081,883
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Dll4
delta like canonical Notch ligand 4
ISO
mRNA,protein:increased expression:temporal lobe :
RGD
PMID:27388534
RGD:155641257
NCBI chr 3:106,317,114...106,327,004
Ensembl chr 3:106,316,986...106,326,931
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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 2:93,096,605...93,100,316
Ensembl chr 2:93,095,498...93,100,312
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Hif1a
hypoxia inducible factor 1 subunit alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15341671
NCBI chr 6:92,624,059...92,669,262
Ensembl chr 6:92,624,390...92,669,261
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Ndrg1
N-myc downstream regulated 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15341671
NCBI chr 7:98,684,487...98,725,869
Ensembl chr 7:98,684,487...98,725,880
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Notch4
notch receptor 4
ISO
mRNA,protein:increased expression:temporal lobe :
RGD
PMID:27388534
RGD:155641257
NCBI chr20:4,160,362...4,184,466
Ensembl chr20:4,160,445...4,184,465
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Gja4
gap junction protein, alpha 4
ISO
ClinVar Annotator: match by term: Hepatic hemangioma
ClinVar
PMID:33912852
NCBI chr 5:139,633,324...139,635,857
Ensembl chr 5:139,633,287...139,635,925
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Antxr1
ANTXR cell adhesion molecule 1
susceptibility
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Capillary infantile hemangioma
CTD ClinVar OMIM
PMID:18931684 PMID:25741868 PMID:28492532
NCBI chr 4:119,590,770...119,778,232
Ensembl chr 4:119,590,771...119,778,232
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Ccnh
cyclin H
ISO
ClinVar Annotator: match by term: Capillary infantile hemangioma
ClinVar
PMID:25741868
NCBI chr 2:15,835,064...15,855,648
Ensembl chr 2:15,834,833...15,855,819
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Fat4
FAT atypical cadherin 4
ISO
ClinVar Annotator: match by term: Capillary infantile hemangioma | ClinVar Annotator: match by term: HEMANGIOMA, HEREDITARY CAPILLARY
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 2:121,927,266...122,056,700
Ensembl chr 2:121,927,942...122,056,707
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Flt4
Fms related receptor tyrosine kinase 4
ISO
ClinVar Annotator: match by term: Capillary infantile hemangioma CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:11807987 PMID:25741868 PMID:28492532
NCBI chr10:33,913,725...33,954,770
Ensembl chr10:33,913,608...33,954,770
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Kdr
kinase insert domain receptor
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Capillary infantile hemangioma
CTD ClinVar OMIM
PMID:11807987 PMID:18931684 PMID:24033266 PMID:24728327 PMID:25741868
NCBI chr14:32,217,871...32,261,018
Ensembl chr14:32,217,871...32,261,018
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Myh9
myosin, heavy chain 9
ISO
ClinVar Annotator: match by term: Capillary infantile hemangioma
ClinVar
PMID:28492532
NCBI chr 7:109,343,718...109,424,457
Ensembl chr 7:109,343,706...109,424,457
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Rasa1
RAS p21 protein activator 1
ISO
ClinVar Annotator: match by term: Capillary infantile hemangioma
ClinVar
PMID:25741868
NCBI chr 2:15,857,704...15,940,757
Ensembl chr 2:15,857,980...15,940,854
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Slc2a1
solute carrier family 2 member 1
ISO
RGD
PMID:17554865
RGD:12879502
NCBI chr 5:132,717,196...132,745,416
Ensembl chr 5:132,717,196...132,745,416
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Vegfa
vascular endothelial growth factor A
disease_progression
ISO
RGD
PMID:26957058
RGD:155663370
NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641
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Fgf2
fibroblast growth factor 2
ISO
RGD
PMID:14517397
RGD:8655667
NCBI chr 2:120,236,328...120,290,673
Ensembl chr 2:120,236,328...120,291,221
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Gna14
G protein subunit alpha 14
ISO
ClinVar Annotator: match by term: Kaposiform hemangioendothelioma
ClinVar
PMID:25741868 PMID:27476652
NCBI chr 1:213,714,993...213,900,083
Ensembl chr 1:213,716,020...213,897,423
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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 PMID:25741868 PMID:28492532 PMID:29907875 PMID:32929933 More...
NCBI chr 4:116,055,563...116,083,563
Ensembl chr 4:116,056,057...116,080,543
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Gja4
gap junction protein, alpha 4
ISO
ClinVar Annotator: match by term: Cutaneous venous malformation
ClinVar
PMID:33912852
NCBI chr 5:139,633,324...139,635,857
Ensembl chr 5:139,633,287...139,635,925
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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 CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:7783168 PMID:7833915 PMID:8415706 PMID:8980225 PMID:9926914 PMID:10369874 PMID:19079259 PMID:19888299 PMID:20301733 PMID:25326635 PMID:25741868 PMID:26319232 PMID:27270174 PMID:28492532 More...
NCBI chr 5:109,607,077...109,733,805
Ensembl chr 5:109,607,077...109,733,804
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Bmpr2
bone morphogenetic protein receptor type 2
ISO
ClinVar Annotator: match by term: Familial pulmonary capillary hemangiomatosis
ClinVar
PMID:18626305 PMID:24292273
NCBI chr 9:61,192,718...61,307,280
Ensembl chr 9:61,190,566...61,301,809
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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 PMID:25512148 PMID:25741868 PMID:27684876 PMID:28492532 PMID:28972005 PMID:29743074 PMID:30285736 PMID:31711431 PMID:32581362 More...
NCBI chr 3:105,356,261...105,441,630
Ensembl chr 3:105,356,261...105,441,630
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Gja4
gap junction protein, alpha 4
ISO
ClinVar Annotator: match by term: Skin hemangioma
ClinVar
PMID:33912852
NCBI chr 5:139,633,324...139,635,857
Ensembl chr 5:139,633,287...139,635,925
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Ccnh
cyclin H
ISO
ClinVar Annotator: match by term: Parkes Weber syndrome
ClinVar
PMID:24038909 PMID:25741868 PMID:27081547 PMID:28492532 PMID:28655553 PMID:29891884 More...
NCBI chr 2:15,835,064...15,855,648
Ensembl chr 2:15,834,833...15,855,819
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Fn1
fibronectin 1
ISO
mRNA, protein:increased expression:cerebral cortex
RGD
PMID:12621118
RGD:1358624
NCBI chr 9:73,196,044...73,264,695
Ensembl chr 9:73,196,044...73,264,678
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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:1328859 PMID:2549426 PMID:18719078 PMID:19078957 PMID:21083380 PMID:22253748 PMID:22653968 PMID:22733540 PMID:22808163 PMID:23656586 PMID:25157968 PMID:25188413 PMID:25741868 More...
NCBI chr 1:213,425,631...213,671,947
Ensembl chr 1:213,424,465...213,667,672
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Map2k1
mitogen activated protein kinase kinase 1
ISO
ClinVar Annotator: match by term: Parkes Weber syndrome
ClinVar
PMID:25741868
NCBI chr 8:64,683,449...64,754,900
Ensembl chr 8:64,683,449...64,755,147
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Mmp2
matrix metallopeptidase 2
severity
ISO
protein:increased expression:urine
RGD
PMID:23720035
RGD:13204823
NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870
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Mmp9
matrix metallopeptidase 9
severity
ISO
protein:increased expression:urine
RGD
PMID:23720035
RGD:13204823
NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
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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 PMID:28492532 PMID:28655553 PMID:29891884 More...
NCBI chr 2:15,857,704...15,940,757
Ensembl chr 2:15,857,980...15,940,854
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Macf1
microtubule-actin crosslinking factor 1
ISO
ClinVar Annotator: match by term: Facial hemangioma
ClinVar
PMID:31474318
NCBI chr 5:135,623,734...135,949,097
Ensembl chr 5:135,623,742...135,945,905
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Gna14
G protein subunit alpha 14
ISO
ClinVar Annotator: match by term: Tufted angioma
ClinVar
PMID:25741868
NCBI chr 1:213,714,993...213,900,083
Ensembl chr 1:213,716,020...213,897,423
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Kdr
kinase insert domain receptor
ISO
ClinVar Annotator: match by term: Tufted angioma
ClinVar
PMID:25741868 PMID:26422291 PMID:28492532
NCBI chr14:32,217,871...32,261,018
Ensembl chr14:32,217,871...32,261,018
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Cldn14
claudin 14
ISO
ClinVar Annotator: match by term: Galen vein aneurysm
ClinVar
PMID:23991001 PMID:24033266 PMID:25741868 PMID:28492532 PMID:30578106
NCBI chr11:33,232,281...33,329,440
Ensembl chr11:33,232,220...33,329,171
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Ephb4
EPH receptor B4
ISO
ClinVar Annotator: match by term: Galen vein aneurysm
ClinVar
PMID:30578106
NCBI chr12:19,326,411...19,351,667
Ensembl chr12:19,326,427...19,351,314
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Kat6a
lysine acetyltransferase 6A
ISO
ClinVar Annotator: match by term: Galen vein aneurysm
ClinVar
PMID:30578106
NCBI chr16:69,084,914...69,165,923
Ensembl chr16:69,084,914...69,163,606
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Kel
Kell metallo-endopeptidase (Kell blood group)
ISO
ClinVar Annotator: match by term: Galen vein aneurysm
ClinVar
PMID:30578106
NCBI chr 4:70,568,241...70,585,666
Ensembl chr 4:70,568,243...70,585,631
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Kmt2d
lysine methyltransferase 2D
ISO
ClinVar Annotator: match by term: Galen vein aneurysm
ClinVar
PMID:28492532 PMID:30578106
NCBI chr 7:129,980,744...130,022,088
Ensembl chr 7:129,962,887...130,020,325
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Smarca2
SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2
ISO
ClinVar Annotator: match by term: Galen vein aneurysm
ClinVar
PMID:30578106
NCBI chr 1:224,191,125...224,358,640
Ensembl chr 1:224,191,125...224,358,684
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Map3k3
mitogen activated protein kinase kinase kinase 3
ISO
ClinVar Annotator: match by term: Verrucous venous malformation
ClinVar
PMID:25741868
NCBI chr10:91,020,174...91,088,852
Ensembl chr10:91,020,174...91,088,848
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 4:146,750,821...146,766,050
Ensembl chr 4:146,750,821...146,768,856
G
Ccnd1
cyclin D1
ISO
ClinVar Annotator: match by term: VON HIPPEL-LINDAU SYNDROME, MODIFIER OF CTD Direct Evidence: marker/mechanism
ClinVar OMIM CTD
PMID:10667569 PMID:11459873 PMID:12097293 PMID:23502783 PMID:24870244 PMID:25741868 More...
NCBI chr 1:200,089,002...200,098,524
Ensembl chr 1:200,089,002...200,098,602
G
Epas1
endothelial PAS domain protein 1
ISO
protein:increased expression:kidney:
RGD
PMID:22299048
RGD:11041600
NCBI chr 6:7,790,236...7,871,717
Ensembl chr 6:7,790,647...7,871,228
G
Irak2
interleukin-1 receptor-associated kinase 2
ISO
ClinVar Annotator: match by term: Von Hippel-Lindau syndrome
ClinVar
PMID:25741868
NCBI chr 4:146,786,004...146,842,615
Ensembl chr 4:146,786,100...146,842,602
G
Mmp3
matrix metallopeptidase 3
onset
ISO
RGD
PMID:19551141
RGD:7241233
NCBI chr 8:4,640,397...4,653,963
Ensembl chr 8:4,640,416...4,653,961
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 PMID:18419787 PMID:19454582 PMID:19802898 PMID:21348866 PMID:21909610 PMID:21934479 PMID:23083876 PMID:24033266 PMID:24466223 PMID:25326637 PMID:25741868 PMID:25972245 PMID:26467025 PMID:27171833 PMID:27573198 PMID:28324028 PMID:28374168 PMID:28492532 PMID:29386252 More...
NCBI chr 5:153,264,906...153,285,570
Ensembl chr 5:153,264,899...153,314,293
G
Slc18a1
solute carrier family 18 member A1
ISO
mRNA:increased expression:tumor (human)
RGD
PMID:16189177
RGD:5131200
NCBI chr16:20,653,268...20,687,051
Ensembl chr16:20,653,508...20,687,051
G
Vhl
von Hippel-Lindau tumor suppressor
ISO ISS
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:193300 CTD Direct Evidence: marker/mechanism
OMIM ClinVar MouseDO CTD
PMID:982991 PMID:1056348 PMID:2362675 PMID:2844285 PMID:4843792 PMID:7553625 PMID:7563486 PMID:7660122 PMID:7728151 PMID:7759077 PMID:7784063 PMID:7915601 PMID:7977367 PMID:7987306 PMID:7987327 PMID:8069305 PMID:8069849 PMID:8187067 PMID:8239848 PMID:8270255 PMID:8493574 PMID:8522307 PMID:8550742 PMID:8592333 PMID:8634692 PMID:8641695 PMID:8641976 PMID:8707293 PMID:8730290 PMID:8772572 PMID:8825918 PMID:8825919 PMID:8863170 PMID:8956040 PMID:9058738 PMID:9067265 PMID:9143408 PMID:9156047 PMID:9209471 PMID:9215674 PMID:9329368 PMID:9398721 PMID:9399847 PMID:9435426 PMID:9447969 PMID:9452032 PMID:9536098 PMID:9663592 PMID:9671762 PMID:9681856 PMID:9681858 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:10862095 PMID:10878807 PMID:10900011 PMID:10955664 PMID:11058902 PMID:11106358 PMID:11114638 PMID:11148816 PMID:11160785 PMID:11171960 PMID:11257211 PMID:11309459 PMID:11331612 PMID:11331613 PMID:11409863 PMID:11483638 PMID:11505222 PMID:11536052 PMID:11688393 PMID:11688398 PMID:11709017 PMID:11739384 PMID:11835384 PMID:11865071 PMID:11896624 PMID:11921283 PMID:11986208 PMID:11987242 PMID:12000816 PMID:12004076 PMID:12050673 PMID:12056827 PMID:12081237 PMID:12097293 PMID:12114475 PMID:12114495 PMID:12202531 PMID:12393546 PMID:12414898 PMID:12415268 PMID:12500216 PMID:12510195 PMID:12538644 PMID:12603429 PMID:12624160 PMID:12629069 PMID:12702509 PMID:12807974 PMID:12844285 PMID:12853836 PMID:12912922 PMID:12944410 PMID:13985160 PMID:14500403 PMID:14556007 PMID:14604959 PMID:14636579 PMID:14691445 PMID:14722919 PMID:14726398 PMID:14767570 PMID:14965365 PMID:14973063 PMID:14987375 PMID:15109448 PMID:15177666 PMID:15300849 PMID:15574766 PMID:15607616 PMID:15611064 PMID:15642664 PMID:15642680 PMID:15881703 PMID:15918937 PMID:15932632 PMID:16142346 PMID:16199547 PMID:16210343 PMID:16261165 PMID:16314641 PMID:16452184 PMID:16488999 PMID:16502427 PMID:16505488 PMID:16572651 PMID:16585181 PMID:16595991 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:17102080 PMID:17102082 PMID:17102083 PMID:17102087 PMID:17102088 PMID:17159241 PMID:17264095 PMID:17350623 PMID:17392848 PMID:17407064 PMID:17526729 PMID:17576681 PMID:17640059 PMID:17661816 PMID:17688370 PMID:17700531 PMID:17898043 PMID:17906660 PMID:17919893 PMID:17922902 PMID:17967880 PMID:17992257 PMID:17997830 PMID:18067796 PMID:18195360 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:19333546 PMID:19336503 PMID:19408298 PMID:19464396 PMID:19494350 PMID:19574279 PMID:19576851 PMID:19602254 PMID:19620968 PMID:19694021 PMID:19734639 PMID:19755989 PMID:19763184 PMID:19764026 PMID:19808854 PMID:19906784 PMID:19949673 PMID:19958924 PMID:19996202 PMID:20034980 PMID:20054297 PMID:20064270 PMID:20120764 PMID:20151405 PMID:20223044 PMID:20233476 PMID:20300531 PMID:20351605 PMID:20388653 PMID:20447124 PMID:20518900 PMID:20560986 PMID:20567917 PMID:20583150 PMID:20660572 PMID:20844582 PMID:20846682 PMID:20850701 PMID:20855504 PMID:20952280 PMID:20978319 PMID:21204227 PMID:21258414 PMID:21362373 PMID:21384277 PMID:21386872 PMID:21389259 PMID:21454469 PMID:21461997 PMID:21463266 PMID:21606165 PMID:21685897 PMID:21713522 PMID:21715564 PMID:21784903 PMID:21791076 PMID:21876117 PMID:21972040 PMID:21993671 PMID:22071692 PMID:22105611 PMID:22105711 PMID:22145147 PMID:22156657 PMID:22234250 PMID:22241717 PMID:22265326 PMID:22357542 PMID:22393103 PMID:22438210 PMID:22462637 PMID:22517557 PMID:22566194 PMID:22649785 PMID:22683710 PMID:22703879 PMID:22799452 PMID:22825683 PMID:23015148 PMID:23036577 PMID:23070752 PMID:23102223 PMID:23143947 PMID:23224817 PMID:23298237 PMID:23315997 PMID:23318261 PMID:23327821 PMID:23384228 PMID:23397066 PMID:23403324 PMID:23434161 PMID:23512077 PMID:23541568 PMID:23606570 PMID:23626751 PMID:23660872 PMID:23673869 PMID:23772956 PMID:23788753 PMID:23840444 PMID:23842656 PMID:23845641 PMID:23859443 PMID:23968328 PMID:23990664 PMID:23990666 PMID:24002598 PMID:24033266 PMID:24055113 PMID:24102379 PMID:24112165 PMID:24115288 PMID:24132471 PMID:24134185 PMID:24147197 PMID:24166983 PMID:24206762 PMID:24301059 PMID:24335534 PMID:24339559 PMID:24446253 PMID:24466223 PMID:24555745 PMID:24581539 PMID:24583008 PMID:24678776 PMID:24707167 PMID:24727139 PMID:24728327 PMID:24729484 PMID:24779271 PMID:24969085 PMID:24977658 PMID:24986515 PMID:25078357 PMID:25081542 PMID:25119015 PMID:25157968 PMID:25282218 PMID:25310726 PMID:25371412 PMID:25405498 PMID:25557216 PMID:25562111 PMID:25563310 PMID:25583177 PMID:25586603 PMID:25637381 PMID:25683602 PMID:25715769 PMID:25720320 PMID:25741868 PMID:25773797 PMID:25825477 PMID:25867206 PMID:25885250 PMID:25952756 PMID:25966224 PMID:25985138 PMID:26206375 PMID:26211615 PMID:26228213 PMID:26268347 PMID:26308528 PMID:26323595 PMID:26332594 PMID:26467025 PMID:26484545 PMID:26503325 PMID:26580448 PMID:26622630 PMID:26681312 PMID:26763786 PMID:26822237 PMID:26845104 PMID:26846855 PMID:26920352 PMID:26934580 PMID:26957611 PMID:26973240 PMID:27034144 PMID:27057652 PMID:27146957 PMID:27179072 PMID:27311873 PMID:27439424 PMID:27498913 PMID:27517496 PMID:27527340 PMID:27530247 PMID:27539324 PMID:27617348 PMID:27651169 PMID:27730413 PMID:27785399 PMID:27811160 PMID:28043156 PMID:28052007 PMID:28202063 PMID:28235946 PMID:28349240 PMID:28379443 PMID:28388566 PMID:28432847 PMID:28454591 PMID:28469506 PMID:28492532 PMID:28503092 PMID:28643803 PMID:28650583 PMID:28724667 PMID:28775317 PMID:28781534 PMID:28849724 PMID:28873162 PMID:28944243 PMID:28951115 PMID:28973655 PMID:29022557 PMID:29124493 PMID:29294023 PMID:29437867 PMID:29510814 PMID:29595810 PMID:29607586 PMID:29616089 PMID:29625052 PMID:29662268 PMID:29684080 PMID:29748190 PMID:29758562 PMID:29789510 PMID:29790589 PMID:29871882 PMID:29891534 PMID:29946849 PMID:29949369 PMID:29978187 PMID:30006056 PMID:30042107 PMID:30093976 PMID:30105105 PMID:30185211 PMID:30194449 PMID:30278534 PMID:30338240 PMID:30522901 PMID:30877234 PMID:30890701 PMID:30900640 PMID:30902965 PMID:30943211 PMID:30946460 PMID:31034483 PMID:31087189 PMID:31132167 PMID:31149315 PMID:31159747 PMID:31278746 PMID:31337753 PMID:31350093 PMID:31368132 PMID:31383958 PMID:31397861 PMID:31447099 PMID:31528828 PMID:31538058 PMID:31620170 PMID:31666924 PMID:31779674 PMID:31980715 PMID:32106822 PMID:32238909 PMID:32671223 PMID:32869749 PMID:33004005 PMID:33151962 PMID:33219105 PMID:33362715 PMID:33397040 PMID:33618821 PMID:33720516 PMID:33840814 PMID:33938902 PMID:34036514 PMID:34109129 PMID:34122352 PMID:34416425 PMID:34439168 PMID:34439371 PMID:34566400 PMID:34571962 PMID:34628056 PMID:34994648 PMID:35008334 PMID:35032816 PMID:35448166 PMID:35466127 PMID:35475554 PMID:35505422 PMID:35668420 PMID:35734542 PMID:36384467 PMID:36480544 PMID:36625343 PMID:38020566 PMID:38595826 More...
NCBI chr 4:146,772,483...146,779,376
Ensembl chr 4:146,772,468...146,779,377
G
Tmtc4
transmembrane O-mannosyltransferase targeting cadherins 4
ISO
ClinVar Annotator: match by term: Worster-Drought syndrome
ClinVar
PMID:24375697
NCBI chr15:100,000,157...100,056,573
Ensembl chr15:100,000,152...100,056,543
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all