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: cardiovascular organ benign neoplasm
Accession: DOID:0060091
browse the term
Definition: An organ system benign neoplasm disease located_in the blood, heart, blood vessels or the lymphatic system. (DO)
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GLA
galactosidase alpha
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:19925601
NCBI chr X:83,024,582...83,032,273
Ensembl chr X:83,023,903...83,032,570
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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 5:6,580,141...6,587,550
Ensembl chr 5:6,571,020...6,588,055
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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 9:72,184,805...72,328,765
Ensembl chr 9:72,184,815...72,328,763
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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 9:72,143,652...72,184,774
Ensembl chr 9:72,142,835...72,185,661
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ACE
angiotensin I converting enzyme (peptidyl-dipeptidase A) 1
treatment
ISO
protein:increased activity:heart left ventricle (rat)
RGD
PMID:8386093 PMID:22768235
RGD:12859285 RGD:12880017
NCBI chr12:15,394,487...15,414,609
Ensembl chr12:15,394,487...15,414,703
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ACKR1
atypical chemokine receptor 1
ISO
RGD
PMID:24429330
RGD:9681736
NCBI chr 4:91,224,089...91,225,610
Ensembl chr 4:91,224,139...91,225,850
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ANGPT2
angiopoietin 2
ISO
mRNA:increased expression:lung (rat)
RGD
PMID:18692629
RGD:2314184
NCBI chr15:37,544,177...37,600,925
Ensembl chr15:37,544,707...37,599,041
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ARRB1
arrestin beta 1
ISO
mRNA, protein:altered expression:left ventricle (rat)
RGD
PMID:22015551
RGD:5509867
NCBI chr 9:9,516,944...9,597,446
Ensembl chr 9:9,516,947...9,597,976
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ARRB2
arrestin beta 2
ISO
mRNA, protein:altered expression:left ventricle (rat)
RGD
PMID:22015551
RGD:5509867
NCBI chr12:52,161,776...52,170,362
Ensembl chr12:52,161,778...52,170,342
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COL1A1
collagen type I alpha 1 chain
ISO
in Long Evans rats;mRNA:increased expression:aorta
RGD
PMID:16428894
RGD:8552771
NCBI chr12:26,379,087...26,397,180
Ensembl chr12:26,379,090...26,397,004
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DES
desmin
ISO
RGD
PMID:10591032
RGD:13525010
NCBI chr15:121,428,539...121,435,426
Ensembl chr15:121,427,642...121,435,423
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FGF2
fibroblast growth factor 2
ISO
RGD
PMID:10541235
RGD:8655590
NCBI chr 8:101,278,877...101,344,084
Ensembl chr 8:101,278,885...101,343,916
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MMP2
matrix metallopeptidase 2
treatment
ISO
protein:increased expression:ileal vein
RGD
PMID:17398390 PMID:23924957
RGD:13204800 RGD:1642040
NCBI chr 6:30,059,247...30,087,031
Ensembl chr 6:30,058,595...30,086,982
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MMP9
matrix metallopeptidase 9
treatment
ISO
RGD
PMID:17398390 PMID:23924957
RGD:13204800 RGD:1642040
NCBI chr17:48,179,690...48,186,782
Ensembl chr17:48,179,671...48,186,788
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NOS3
nitric oxide synthase 3
ISO
protein:increased expression:vena cava
RGD
PMID:17344190
RGD:2292146
NCBI chr18:6,209,218...6,228,912
Ensembl chr18:6,209,158...6,228,943
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RBP4
retinol binding protein 4
exacerbates
ISO
protein:increased expression:blood serum (human)
RGD
PMID:33556944
RGD:329845868
NCBI chr14:105,037,360...105,044,552
Ensembl chr14:105,037,464...105,044,765
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TIMP4
TIMP metallopeptidase inhibitor 4
ISO
protein:decreased expression:ileal vein
RGD
PMID:17398390
RGD:1642040
NCBI chr13:68,179,803...68,191,199
Ensembl chr13:68,179,806...68,190,942
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VEGFA
vascular endothelial growth factor A
ISO
protein:increased expression:brain cortex, brain dura mater:
RGD
PMID:10541235 PMID:24626343
RGD:8551823 RGD:8655590
NCBI chr 7:38,746,393...38,762,282
Ensembl chr 7:38,746,052...38,761,366
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ACVRL1
activin A receptor like type 1
ISO
RGD
PMID:11062473
RGD:1300250
NCBI chr 5:17,267,483...17,284,155
Ensembl chr 5:17,268,130...17,286,276
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ENG
endoglin
susceptibility
ISO
associated with Telangiectasia, Hereditary Hemorrhagic;
RGD
PMID:8728706 PMID:24520391
RGD:11041184 RGD:11041564
NCBI chr 1:268,309,379...268,343,861
Ensembl chr 1:268,309,400...268,343,783
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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 chr 3:8,671,052...8,689,778
Ensembl chr 3:8,668,859...8,689,783
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GLMN
glomulin, FKBP associated protein
ISO
glomuvenous malformations
RGD
PMID:11845407
RGD:1598992
NCBI chr 4:124,773,957...124,813,336
Ensembl chr 4:124,773,980...124,813,335
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MAP2
microtubule associated protein 2
ISO
protein:decreased expression:hippocampus
RGD
PMID:20873448
RGD:6483324
NCBI chr15:112,156,578...112,462,932
Ensembl chr15:112,236,119...112,462,929
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MIR10A
microRNA mir-10a
ISO
miRNA:decreased expression:blood plasma (human)
RGD
PMID:23051042
RGD:155582214
NCBI chr12:24,833,644...24,833,723
Ensembl chr12:24,833,627...24,833,730
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MIR193A
microRNA mir-193a
ISO
miRNA:decreased expression:blood plasma (human)
RGD
PMID:23051042
RGD:155582214
NCBI chr12:43,336,969...43,337,048
Ensembl chr12:43,336,969...43,337,048
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MIR214
microRNA mir-214
ISO
miRNA:increased expression:blood plasma (human)
RGD
PMID:23051042
RGD:155582214
NCBI chr 9:114,527,992...114,528,101
Ensembl chr 9:114,527,990...114,528,101
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MMP9
matrix metallopeptidase 9
ISO
RGD
PMID:16720380
RGD:1582655
NCBI chr17:48,179,690...48,186,782
Ensembl chr17:48,179,671...48,186,788
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PIK3CA
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha
ISO
ClinVar Annotator: match by term: Arteriovenous malformation
ClinVar
NCBI chr13:117,193,935...117,282,151
Ensembl chr13:117,180,544...117,274,587
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RASA1
RAS p21 protein activator 1
ISO
CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:14639529 PMID:15917201
RGD:1581296
NCBI chr 2:94,879,615...94,992,725
Ensembl chr 2:94,878,911...94,993,450
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TEK
TEK receptor tyrosine kinase
susceptibility
ISO
DNA:missense mutation: :p.R849W
RGD
PMID:8980225
RGD:1578533
NCBI chr 1:195,938,177...196,052,294
Ensembl chr 1:195,937,432...196,051,980
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ACVRL1
activin A receptor like type 1
ISO
OMIM:108010
MouseDO
NCBI chr 5:17,267,483...17,284,155
Ensembl chr 5:17,268,130...17,286,276
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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 2:97,703,648...98,277,847
Ensembl chr 2:97,735,053...98,275,748
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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 chr18:8,957,963...9,132,558
Ensembl chr18:8,957,991...9,132,553
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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 chr 3:40,637,420...40,694,616
Ensembl chr 3:40,637,427...40,695,177
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CDH2
cadherin 2
ISO
ClinVar Annotator: match by term: Cerebral arteriovenous malformation
ClinVar
PMID:25741868
NCBI chr 6:112,396,713...112,629,073
Ensembl chr 6:112,396,721...112,628,432
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EGFR
epidermal growth factor receptor
ISO
ClinVar Annotator: match by term: Cerebral arteriovenous malformation
ClinVar
PMID:25741868
NCBI chr 9:139,302,410...139,474,632
Ensembl chr 9:139,300,022...139,475,589
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ENG
endoglin
disease_progression
ISO
DNA:polymorphism: : 207G>A(human) ClinVar Annotator: match by term: Cerebral arteriovenous malformation
RGD ClinVar
PMID:15879500 PMID:24876084 PMID:25741868 PMID:28492532 PMID:30120215
RGD:11041171
NCBI chr 1:268,309,379...268,343,861
Ensembl chr 1:268,309,400...268,343,783
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FLT1
fms related receptor tyrosine kinase 1
ISO
protein:increased expression:endothelial cell:
RGD
PMID:11220380
RGD:8551824
NCBI chr11:5,620,698...5,797,095
Ensembl chr11:5,621,212...5,795,264
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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 chr15:30,312,528...30,580,272
Ensembl chr15:30,313,817...30,579,306
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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 chr13:38,935,631...39,006,721
Ensembl chr13:38,939,316...39,006,690
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IL6
interleukin 6
ISO
OMIM
NCBI chr 9:91,506,421...91,510,830
Ensembl chr 9:91,506,421...91,511,263
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KDR
kinase insert domain receptor
ISO
protein:increased expression:endothelial cell:
RGD
PMID:11220380
RGD:8551824
NCBI chr 8:41,809,116...41,856,379
Ensembl chr 8:41,809,122...41,856,336
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KRAS
KRAS proto-oncogene, GTPase
ISO
ClinVar Annotator: match by term: Arteriovenous malformations of the brain ClinVar Annotator: match by term: Arteriovenous malformations of the brain | ClinVar Annotator: match by term: Cerebral arteriovenous malformation
OMIM ClinVar
PMID:2278970 PMID:3122217 PMID:7773929 PMID:8439212 PMID:12110640 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 5:48,508,774...48,546,260
Ensembl chr 5:48,508,811...48,549,358
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LEMD3
LEM domain containing 3
ISO
ClinVar Annotator: match by term: Cerebral arteriovenous malformation
ClinVar
PMID:25741868
NCBI chr 5:29,596,334...29,672,704
Ensembl chr 5:29,596,334...29,673,875
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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 3:52,483,028...52,649,480
Ensembl chr 3:52,484,274...52,649,410
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NLRP3
NLR family pyrin domain containing 3
ISO
ClinVar Annotator: match by term: Cerebral arteriovenous malformation
ClinVar
NCBI chr 2:56,892,241...56,977,412
Ensembl chr 2:56,892,243...56,977,228
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NOTCH4
notch receptor 4
ISO
ClinVar Annotator: match by term: Cerebral arteriovenous malformation
ClinVar
PMID:25741868 PMID:27231971
NCBI chr 7:24,231,293...24,256,281
Ensembl chr 7:24,231,293...24,256,281
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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 chr13:106,517,408...106,558,959
Ensembl chr13:106,517,432...106,558,895
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PITPNM3
PITPNM family member 3
ISO
ClinVar Annotator: match by term: Cerebral arteriovenous malformation
ClinVar
PMID:25741868
NCBI chr12:50,806,302...50,898,316
Ensembl chr12:50,742,773...50,898,331
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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 4:66,712,412...66,996,258
Ensembl chr 4:66,715,237...66,996,044
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SARS1
seryl-tRNA synthetase 1
ISO
ClinVar Annotator: match by term: Cerebral arteriovenous malformation
ClinVar
PMID:25741868
NCBI chr 4:110,857,067...110,874,712
Ensembl chr 4:110,857,089...110,874,815
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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 9:389,806...457,651
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SYN3
synapsin III
ISO
ClinVar Annotator: match by term: Cerebral arteriovenous malformation
ClinVar
PMID:25741868
NCBI chr 5:12,017,741...12,501,995
Ensembl chr 5:12,473,793...12,500,076
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TIMP3
TIMP metallopeptidase inhibitor 3
ISO
ClinVar Annotator: match by term: Cerebral arteriovenous malformation
ClinVar
PMID:25741868
NCBI chr 5:12,185,816...12,242,599
Ensembl chr 5:12,185,818...12,242,581
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VEGFA
vascular endothelial growth factor A
ISO
RGD
PMID:16388189
RGD:1580567
NCBI chr 7:38,746,393...38,762,282
Ensembl chr 7:38,746,052...38,761,366
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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 2:89,044,860...89,109,237
Ensembl chr 2:89,045,362...89,106,975
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EGFR
epidermal growth factor receptor
ISO
ClinVar Annotator: match by term: Cowden syndrome 1
ClinVar
NCBI chr 9:139,302,410...139,474,632
Ensembl chr 9:139,300,022...139,475,589
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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...
NCBI chr14:99,923,996...99,928,887
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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 chr13:117,193,935...117,282,151
Ensembl chr13:117,180,544...117,274,587
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PTEN
phosphatase and tensin homolog
ISO
ClinVar Annotator: match by term: Bannayan-Riley-Ruvalcaba syndrome | ClinVar Annotator: match by term: Cowden syndrome 1
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: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 chr14:99,929,590...100,021,619
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 6:75,648,362...75,678,111
Ensembl chr 6:75,648,215...75,678,378
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 chr10:16,441,465...16,741,745
Ensembl chr10:16,441,447...16,741,337
G
CCN1
cellular communication network factor 1
disease_progression
ISO
mRNA:increased expression:skin (human)
RGD
PMID:33587560
RGD:329845523
NCBI chr 4:130,392,404...130,395,179
Ensembl chr 4:130,392,407...130,395,150
G
NPC1
NPC intracellular cholesterol transporter 1
ISO
ClinVar Annotator: match by term: Capillary hemangioma
ClinVar
PMID:25741868
NCBI chr 6:108,403,126...108,450,486
Ensembl chr 6:108,402,879...108,450,990
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 2:94,980,938...95,019,053
Ensembl chr 2:94,980,941...95,018,634
G
EPHB4
EPH receptor B4
ISO
ClinVar Annotator: match by term: Capillary malformation-arteriovenous malformation syndrome
ClinVar
PMID:25741868
NCBI chr 3:8,671,052...8,689,778
Ensembl chr 3:8,668,859...8,689,783
G
RASA1
RAS p21 protein activator 1
susceptibility
ISO
DNA:mutations:multiple (human) ClinVar Annotator: match by term: Capillary malformation-arteriovenous malformation | ClinVar Annotator: match by term: Capillary malformation-arteriovenous malformation syndrome
RGD ClinVar
PMID: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 More...
RGD:734495
NCBI chr 2:94,879,615...94,992,725
Ensembl chr 2:94,878,911...94,993,450
G
STAMBP
STAM binding protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23542699
NCBI chr 3:69,156,012...69,188,256
Ensembl chr 3:69,133,978...69,188,192
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 More...
NCBI chr 2:94,980,938...95,019,053
Ensembl chr 2:94,980,941...95,018,634
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 5:48,508,774...48,546,260
Ensembl chr 5:48,508,811...48,549,358
G
PIK3CA
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha
ISO
ClinVar Annotator: match by term: Capillary malformation-arteriovenous malformation 1
ClinVar
NCBI chr13:117,193,935...117,282,151
Ensembl chr13:117,180,544...117,274,587
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 More...
NCBI chr 2:94,879,615...94,992,725
Ensembl chr 2:94,878,911...94,993,450
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 chr 3:8,671,052...8,689,778
Ensembl chr 3:8,668,859...8,689,783
G
SLC12A9
solute carrier family 12 member 9
ISO
ClinVar Annotator: match by term: Capillary malformation-arteriovenous malformation 2
ClinVar
PMID:25741868 PMID:28492532 PMID:28687708
NCBI chr 3:8,696,593...8,712,904
Ensembl chr 3:8,697,439...8,712,918
G
CCM2
CCM2 scaffold protein
ISO
ClinVar Annotator: match by term: Cavernous hemangioma
ClinVar
PMID:25741868
NCBI chr18:50,396,423...50,450,442
Ensembl chr18:50,396,424...50,450,132
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 9:72,143,652...72,184,774
Ensembl chr 9:72,142,835...72,185,661
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 chr13:106,517,408...106,558,959
Ensembl chr13:106,517,432...106,558,895
G
CCNH
cyclin H
ISO
ClinVar Annotator: match by term: Cerebral venous angioma
ClinVar
PMID:23650393 PMID:25741868 PMID:31680349
NCBI chr 2:94,980,938...95,019,053
Ensembl chr 2:94,980,941...95,018,634
G
RASA1
RAS p21 protein activator 1
ISO
ClinVar Annotator: match by term: Cerebral venous angioma
ClinVar
PMID:23650393 PMID:25741868 PMID:31680349
NCBI chr 2:94,879,615...94,992,725
Ensembl chr 2:94,878,911...94,993,450
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 chr13:66,334,535...66,342,401
Ensembl chr13:66,334,591...66,342,654
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 9:71,895,615...72,054,898
Ensembl chr 9:71,895,635...72,054,897
G
ANKIB1
ankyrin repeat and IBR domain containing 1
ISO
ClinVar Annotator: match by term: Cerebral cavernous malformation
ClinVar
PMID:25741868
NCBI chr 9:72,184,805...72,328,765
Ensembl chr 9:72,184,815...72,328,763
G
CCM2
CCM2 scaffold protein
ISO
ClinVar Annotator: match by term: Cerebral cavernous malformation
ClinVar
PMID:25525273 PMID:25741868 PMID:28492532
NCBI chr18:50,396,423...50,450,442
Ensembl chr18:50,396,424...50,450,132
G
CYP51A1
cytochrome P450 family 51 subfamily A member 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 9:72,057,506...72,079,587
Ensembl chr 9:72,057,511...72,079,444
G
FLT1
fms related receptor tyrosine kinase 1
ISO
protein:increased expression:endothelial cell:
RGD
PMID:11220380
RGD:8551824
NCBI chr11:5,620,698...5,797,095
Ensembl chr11:5,621,212...5,795,264
G
KDR
kinase insert domain receptor
ISO
protein:increased expression:endothelial cell:
RGD
PMID:11220380
RGD:8551824
NCBI chr 8:41,809,116...41,856,379
Ensembl chr 8:41,809,122...41,856,336
G
KRIT1
KRIT1 ankyrin repeat containing
susceptibility
ISO
ClinVar Annotator: match by term: Cavernous Hemangioma of Brain | ClinVar Annotator: match by term: Cerebral cavernous malformation | ClinVar Annotator: match by term: Cerebral cavernous malformations
RGD ClinVar
PMID:3393196 PMID:7898703 PMID:9065560 PMID:9536098 PMID:10508515 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 More...
RGD:1598379
NCBI chr 9:72,143,652...72,184,774
Ensembl chr 9:72,142,835...72,185,661
G
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 9:72,094,221...72,142,939
Ensembl chr 9:72,094,065...72,140,882
G
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 9:71,287,587...71,853,866
Ensembl chr 9:71,845,662...71,853,845
G
NOTCH3
notch receptor 3
ISO
ClinVar Annotator: match by term: Cerebral cavernous malformation
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 2:62,364,507...62,402,348
Ensembl chr 2:62,364,501...62,402,344
G
PDCD10
programmed cell death 10
ISO
ClinVar Annotator: match by term: Cavernous Hemangioma of Brain | ClinVar Annotator: match by term: Cerebral cavernous malformation
ClinVar
PMID:15543491 PMID:18035376 PMID:18300272 PMID:23485406 PMID:23595507 PMID:23801932 PMID:25741868 PMID:26896283 PMID:28492532 More...
NCBI chr13:106,517,408...106,558,959
Ensembl chr13:106,517,432...106,558,895
G
PON1
paraoxonase 1
susceptibility
ISO
DNA:missense mutations:cds:p.L55M, p.Q192R (human)
RGD
PMID:26122242
RGD:11552573
NCBI chr 9:74,943,646...74,974,720
Ensembl chr 9:74,926,048...74,974,723
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PTEN
phosphatase and tensin homolog
ISO
protein:decreased expression:brain (human)
RGD
PMID:19061355
RGD:12859036
NCBI chr14:99,929,590...100,021,619
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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 chr13:106,559,326...106,636,930
Ensembl chr13:106,559,736...106,658,110
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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 9:72,143,652...72,184,774
Ensembl chr 9:72,142,835...72,185,661
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PDCD10
programmed cell death 10
ISO
ClinVar Annotator: match by term: Cerebral cavernous malformation 1
ClinVar
PMID:25741868
NCBI chr13:106,517,408...106,558,959
Ensembl chr13:106,517,432...106,558,895
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PTGIS
prostaglandin I2 synthase
exacerbates
ISO
DNA:silent mutation:CDS:p.L256L (rs5628) (human)
RGD
PMID:26795600
RGD:401960081
NCBI chr17:51,153,151...51,200,515
Ensembl chr17:51,153,154...51,200,300
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CCM2
CCM2 scaffold protein
ISO
ClinVar Annotator: match by term: Cerebral cavernous malformation 2
OMIM ClinVar
PMID:2468908 PMID:9536098 PMID:14624391 PMID:14740320 PMID:15122722 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:30161288 PMID:31937560 PMID:32860008 PMID:35307828 More...
NCBI chr18:50,396,423...50,450,442
Ensembl chr18:50,396,424...50,450,132
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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 chr18:50,385,116...50,394,787
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PDCD10
programmed cell death 10
onset exacerbates
ISO
ClinVar Annotator: match by term: Cerebral cavernous malformation 3 | ClinVar Annotator: match by term: Cerebral cavernous malformations 3 DNA:mutations:multiple (human)
OMIM ClinVar RGD
PMID:9536098 PMID:15543491 PMID:16199547 PMID:16329096 PMID:16380626 PMID:17041941 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 More...
RGD:401827114 RGD:401827115
NCBI chr13:106,517,408...106,558,959
Ensembl chr13:106,517,432...106,558,895
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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 chr13:106,559,326...106,636,930
Ensembl chr13:106,559,736...106,658,110
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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 chr13:117,193,935...117,282,151
Ensembl chr13:117,180,544...117,274,587
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GNA14
G protein subunit alpha 14
ISO
ClinVar Annotator: match by term: Cerebrofacial arteriovenous metameric syndrome
ClinVar
NCBI chr 1:230,341,947...230,545,123
Ensembl chr 1:230,341,942...230,546,120
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TP53
tumor protein p53
ISO
ClinVar Annotator: match by term: Choroid plexus papilloma | ClinVar Annotator: match by term: Papilloma of choroid plexus
ClinVar OMIM
PMID:1565143 PMID:1565144 PMID:1591732 PMID:1631137 PMID:1683921 PMID:1975675 PMID:1978757 PMID:1999338 PMID:2046748 PMID:4122735 PMID:7565304 PMID:7732013 PMID:7783166 PMID:7887414 PMID:8023157 PMID:8062826 PMID:8118819 PMID:8164043 PMID:8242752 PMID:8308926 PMID:8401536 PMID:8423216 PMID:8550239 PMID:8633021 PMID:8649776 PMID:8718514 PMID:8825920 PMID:9047394 PMID:9218725 PMID:9242456 PMID:9364015 PMID:9399838 PMID:9407971 PMID:9546439 PMID:9569050 PMID:9607760 PMID:9662334 PMID:9667734 PMID:9704930 PMID:9891044 PMID:10411893 PMID:10432928 PMID:10519380 PMID:10589545 PMID:10797439 PMID:10802655 PMID:10864200 PMID:10922393 PMID:11101847 PMID:11139324 PMID:11180592 PMID:11370630 PMID:11403041 PMID:11479205 PMID:11782540 PMID:11793474 PMID:12007217 PMID:12085209 PMID:12567188 PMID:12619118 PMID:12672316 PMID:12826609 PMID:12885464 PMID:12917626 PMID:14743206 PMID:15004724 PMID:15037740 PMID:15355915 PMID:15381368 PMID:15390294 PMID:15607980 PMID:15607981 PMID:15722483 PMID:15781620 PMID:15925506 PMID:15951970 PMID:15977174 PMID:16199549 PMID:16258005 PMID:16401470 PMID:16489069 PMID:16494995 PMID:16551709 PMID:16682957 PMID:16818505 PMID:16861262 PMID:16964264 PMID:17015838 PMID:17311302 PMID:17535973 PMID:17540308 PMID:17599946 PMID:17606709 PMID:17636407 PMID:17638920 PMID:18307025 PMID:18391940 PMID:18511570 PMID:19101993 PMID:19127115 PMID:19367569 PMID:19454241 PMID:19468865 PMID:19521721 PMID:19556618 PMID:19881536 PMID:20028212 PMID:20113312 PMID:20128691 PMID:20407015 PMID:20516128 PMID:20520810 PMID:20522432 PMID:20586629 PMID:20593220 PMID:20689556 PMID:20693561 PMID:20805372 PMID:21113594 PMID:21118481 PMID:21187651 PMID:21305319 PMID:21343334 PMID:21356188 PMID:21445056 PMID:21484931 PMID:21519010 PMID:21552135 PMID:21601526 PMID:21619694 PMID:21672450 PMID:21761402 PMID:22006311 PMID:22110706 PMID:22186996 PMID:22233476 PMID:22672556 PMID:22698404 PMID:22703879 PMID:22729912 PMID:22744426 PMID:22811390 PMID:22822097 PMID:22869713 PMID:22887876 PMID:22915647 PMID:22923379 PMID:23031740 PMID:23161690 PMID:23172776 PMID:23246812 PMID:23259501 PMID:23263379 PMID:23484829 PMID:23538418 PMID:23624782 PMID:23630318 PMID:23792586 PMID:23887774 PMID:24033266 PMID:24065105 PMID:24122735 PMID:24381225 PMID:24487413 PMID:24501221 PMID:24573247 PMID:24641375 PMID:24651012 PMID:24677579 PMID:24702488 PMID:24728327 PMID:24810334 PMID:24835218 PMID:25059482 PMID:25157968 PMID:25256166 PMID:25404506 PMID:25584008 PMID:25612911 PMID:25741868 PMID:25765855 PMID:25787918 PMID:25896519 PMID:25952993 PMID:26014290 PMID:26205489 PMID:26225655 PMID:26230955 PMID:26332594 PMID:26467025 PMID:26580448 PMID:26585234 PMID:26619011 PMID:26681312 PMID:26786923 PMID:26822237 PMID:26845104 PMID:26911350 PMID:27146902 PMID:27153395 PMID:27189670 PMID:27276561 PMID:27374712 PMID:27463065 PMID:27516001 PMID:27616075 PMID:27621308 PMID:27680515 PMID:27683180 PMID:27714481 PMID:27895058 PMID:27959731 PMID:27993330 PMID:28152038 PMID:28279309 PMID:28349240 PMID:28369373 PMID:28453743 PMID:28472496 PMID:28492532 PMID:28664506 PMID:28861920 PMID:28873162 PMID:28975465 PMID:29070607 PMID:29300620 PMID:29478780 PMID:29489754 PMID:29979965 PMID:30076369 PMID:30224644 PMID:30287823 PMID:30327374 PMID:30352134 PMID:30816478 PMID:31105275 PMID:31321604 PMID:31775759 PMID:31882575 PMID:31983162 PMID:32000721 PMID:32156018 PMID:32475984 PMID:32817165 PMID:32888145 PMID:32906206 PMID:33087929 PMID:33163847 PMID:33245408 PMID:33257846 PMID:33372952 PMID:33471991 PMID:33840814 PMID:34088725 PMID:34503094 PMID:34529667 PMID:34709361 PMID:35043155 PMID:35802772 PMID:35974385 PMID:36008825 PMID:36309086 PMID:36329109 PMID:36988593 More...
NCBI chr12:52,939,643...52,953,786
Ensembl chr12:52,939,644...52,953,818
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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 chr13:117,193,935...117,282,151
Ensembl chr13:117,180,544...117,274,587
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AXIN2
axin 2
ISO
protein:increased expression::
RGD
PMID:11809809
RGD:151356508
NCBI chr12:12,311,293...12,343,207
Ensembl chr12:12,311,298...12,343,200
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CACNA1D
calcium voltage-gated channel subunit alpha1 D
ISO
protein:increased expression:colon (human)
RGD
PMID:29079724
RGD:152177516
NCBI chr13:35,568,534...35,911,483
Ensembl chr13:35,436,519...35,909,662
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CCND1
cyclin D1
severity
ISO
RGD
PMID:11375949
RGD:151665121
NCBI chr 2:3,621,242...3,633,380
Ensembl chr 2:3,621,246...3,633,296
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CCND2
cyclin D2
severity
ISO
RGD
PMID:11375949
RGD:151665121
NCBI chr 5:66,092,483...66,114,575
Ensembl chr 5:66,087,379...66,114,571
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CHKA
choline kinase alpha
ISO
protein:increased expression:colonic mucosa (human)
RGD
PMID:10363580
RGD:10401945
NCBI chr 2:4,788,508...4,846,667
Ensembl chr 2:4,788,213...4,846,665
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IGF2BP1
insulin like growth factor 2 mRNA binding protein 1
ISO
RGD
PMID:26194191
RGD:11086893
NCBI chr12:25,196,955...25,244,660
Ensembl chr12:25,197,058...25,243,272
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RAC1
Rac family small GTPase 1
ISO
RGD
PMID:12865273
RGD:13432048
NCBI chr 3:4,781,776...4,803,510
Ensembl chr 3:4,781,780...4,803,543
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RBP4
retinol binding protein 4
ISO
protein:increased expression:blood serum (human)
RGD
PMID:25712946
RGD:329849123
NCBI chr14:105,037,360...105,044,552
Ensembl chr14:105,037,464...105,044,765
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TET2
tet methylcytosine dioxygenase 2
ISO
mRNA:decreased expression:colon (human)
RGD
PMID:29875879
RGD:150429665
NCBI chr 8:116,413,253...116,546,976
Ensembl chr 8:116,415,267...116,545,299
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COL11A2
collagen type XI alpha 2 chain
ISO
ClinVar Annotator: match by term: Cystic hygroma
ClinVar
PMID:10677296 PMID:21204229 PMID:22246659 PMID:24033266 PMID:25741868 PMID:26445815 PMID:28492532 PMID:29456477 PMID:31299979 PMID:31680349 PMID:33111345 More...
NCBI chr 7:25,204,496...25,234,880
Ensembl chr 7:25,204,497...25,234,888
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ACE
angiotensin I converting enzyme (peptidyl-dipeptidase A) 1
ISO
DNA:deletion:intron:IVS16+1464-1751del (human)
RGD
PMID:20488708
RGD:11039024
NCBI chr12:15,394,487...15,414,609
Ensembl chr12:15,394,487...15,414,703
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CAND2
cullin associated and neddylation dissociated 2 (putative)
ISO
RGD
PMID:31426861
RGD:18899564
NCBI chr13:68,758,739...68,787,200
Ensembl chr13:68,758,734...68,787,192
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GLMN
glomulin, FKBP associated protein
ISO
ClinVar Annotator: match by term: Familial glomangioma
ClinVar
PMID:11175297 PMID:11845407 PMID:15689436 PMID:23801931 PMID:24033266 PMID:25741868 PMID:28492532 PMID:30460983 More...
NCBI chr 4:124,773,957...124,813,336
Ensembl chr 4:124,773,980...124,813,335
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GLMN
glomulin, FKBP associated protein
ISO
ClinVar Annotator: match by term: Glomuvenous malformation | ClinVar Annotator: match by term: Glomuvenous malformations
OMIM ClinVar
PMID:11175297 PMID:11845407 PMID:15689436 PMID:23375657 PMID:23801931 PMID:24033266 PMID:25741868 PMID:28492532 PMID:30460983 More...
NCBI chr 4:124,773,957...124,813,336
Ensembl chr 4:124,773,980...124,813,335
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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 chr15:15,663,652...15,666,706
Ensembl chr15:15,663,494...15,667,232
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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 1:130,376,720...130,386,411
Ensembl chr 1:130,376,721...130,386,411
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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 4:56,859,640...56,863,807
Ensembl chr 4:56,859,663...56,863,788
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HIF1A
hypoxia inducible factor 1 subunit alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15341671
NCBI chr 1:190,625,436...190,673,926
Ensembl chr 1:190,625,244...190,674,845
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NDRG1
N-myc downstream regulated 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15341671
NCBI chr 4:8,014,445...8,069,335
Ensembl chr 4:8,014,446...8,069,335
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NOTCH4
notch receptor 4
ISO
mRNA,protein:increased expression:temporal lobe :
RGD
PMID:27388534
RGD:155641257
NCBI chr 7:24,231,293...24,256,281
Ensembl chr 7:24,231,293...24,256,281
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FOXO1
forkhead box O1
ISO
RGD
PMID:17254969
RGD:155630604
NCBI chr11:15,317,222...15,410,059
Ensembl chr11:15,317,124...15,410,473
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FOXO3
forkhead box O3
ISO
RGD
PMID:17254969
RGD:155630604
NCBI chr 1:74,626,673...74,760,323
Ensembl chr 1:74,628,218...74,760,325
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FOXO4
forkhead box O4
ISO
RGD
PMID:17254969
RGD:155630604
NCBI chr X:57,132,549...57,140,377
Ensembl chr X:57,132,548...57,140,356
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FOXP1
forkhead box P1
ISO
ClinVar Annotator: match by term: Glabellar hemangioma
ClinVar
PMID:25741868
NCBI chr13:52,346,844...52,974,358
Ensembl chr13:52,348,234...52,876,892
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IDH1
isocitrate dehydrogenase (NADP(+)) 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22057234
NCBI chr15:111,341,153...111,362,330
Ensembl chr15:111,341,153...111,362,296
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IDH2
isocitrate dehydrogenase (NADP(+)) 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22057234
NCBI chr 7:55,654,298...55,675,571
Ensembl chr 7:55,651,609...55,675,554
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LOC100525350
polyprenol reductase
ISO
ClinVar Annotator: match by term: Hemangioma
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 8:42,024,352...42,049,209
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MMP2
matrix metallopeptidase 2
ISO
RGD
PMID:19821096
RGD:8657063
NCBI chr 6:30,059,247...30,087,031
Ensembl chr 6:30,058,595...30,086,982
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NOTCH1
notch receptor 1
ISO
ClinVar Annotator: match by term: Hemangioma
ClinVar
PMID:25741868
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PTEN
phosphatase and tensin homolog
ISO
ClinVar Annotator: match by term: Hemangioma
ClinVar
PMID:9467011 PMID:21194675 PMID:28492532
NCBI chr14:99,929,590...100,021,619
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SLC2A1
solute carrier family 2 member 1
ISO
RGD
PMID:10665907
RGD:12879499
NCBI chr 6:168,535,398...168,561,170
Ensembl chr 6:168,535,440...168,560,867
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TSC2
TSC complex subunit 2
ISO
RGD
PMID:10096549
RGD:11568655
NCBI chr 3:39,898,924...39,935,579
Ensembl chr 3:39,898,925...39,937,371
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YAP1
Yes1 associated transcriptional regulator
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:31351048
NCBI chr 9:32,811,629...32,924,926
Ensembl chr 9:32,811,416...32,925,603
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GJA4
gap junction protein alpha 4
ISO
ClinVar Annotator: match by term: Hepatic hemangioma
ClinVar
PMID:33912852
NCBI chr 6:91,045,430...91,048,161
Ensembl chr 6:91,045,394...91,048,162
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ANTXR1
ANTXR cell adhesion molecule 1
ISO
ClinVar Annotator: match by term: Capillary infantile hemangioma
ClinVar OMIM
PMID:18931684 PMID:25741868 PMID:28492532
NCBI chr 3:73,157,744...73,398,379
Ensembl chr 3:73,157,747...73,398,379
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CCNH
cyclin H
ISO
ClinVar Annotator: match by term: Capillary infantile hemangioma
ClinVar
PMID:25741868
NCBI chr 2:94,980,938...95,019,053
Ensembl chr 2:94,980,941...95,018,634
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FAT4
FAT atypical cadherin 4
ISO
ClinVar Annotator: match by term: Capillary infantile hemangioma
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 8:99,141,967...99,312,131
Ensembl chr 8:99,148,496...99,310,519
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FLT4
fms related receptor tyrosine kinase 4
ISO
ClinVar Annotator: match by term: Capillary infantile hemangioma
OMIM ClinVar
PMID:11807987 PMID:25741868 PMID:28492532
NCBI chr 2:78,076,008...78,115,137
Ensembl chr 2:78,076,080...78,115,126
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KDR
kinase insert domain receptor
ISO
ClinVar Annotator: match by term: Capillary infantile hemangioma
ClinVar OMIM
PMID:11807987 PMID:18931684 PMID:24033266 PMID:24728327 PMID:25741868
NCBI chr 8:41,809,116...41,856,379
Ensembl chr 8:41,809,122...41,856,336
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MYH9
myosin heavy chain 9
ISO
ClinVar Annotator: match by term: Capillary infantile hemangioma
ClinVar
PMID:28492532
NCBI chr 5:11,365,603...11,456,475
Ensembl chr 5:11,360,660...11,456,472
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RASA1
RAS p21 protein activator 1
ISO
ClinVar Annotator: match by term: Capillary infantile hemangioma
ClinVar
PMID:25741868
NCBI chr 2:94,879,615...94,992,725
Ensembl chr 2:94,878,911...94,993,450
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SLC2A1
solute carrier family 2 member 1
ISO
RGD
PMID:17554865
RGD:12879502
NCBI chr 6:168,535,398...168,561,170
Ensembl chr 6:168,535,440...168,560,867
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VEGFA
vascular endothelial growth factor A
disease_progression
ISO
RGD
PMID:26957058
RGD:155663370
NCBI chr 7:38,746,393...38,762,282
Ensembl chr 7:38,746,052...38,761,366
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FGF2
fibroblast growth factor 2
ISO
RGD
PMID:14517397
RGD:8655667
NCBI chr 8:101,278,877...101,344,084
Ensembl chr 8:101,278,885...101,343,916
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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 1:230,341,947...230,545,123
Ensembl chr 1:230,341,942...230,546,120
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BRAF
B-Raf proto-oncogene, serine/threonine kinase
ISO
ClinVar Annotator: match by term: Lymphangioma
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 chr18:8,957,963...9,132,558
Ensembl chr18:8,957,991...9,132,553
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FLT4
fms related receptor tyrosine kinase 4
ISO
protein:increased expression:;lymphatic endothelial cell:
RGD
PMID:17584927
RGD:8552338
NCBI chr 2:78,076,008...78,115,137
Ensembl chr 2:78,076,080...78,115,126
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KDR
kinase insert domain receptor
ISO
protein:increased expression:;lymphatic endothelial cell:
RGD
PMID:17584927
RGD:8552338
NCBI chr 8:41,809,116...41,856,379
Ensembl chr 8:41,809,122...41,856,336
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PIK3CA
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha
ISO
ClinVar Annotator: match by term: Cavernous lymphangioma
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:29446767 PMID:34496175 PMID:34568242 PMID:34606700 PMID:37667289 More...
NCBI chr13:117,193,935...117,282,151
Ensembl chr13:117,180,544...117,274,587
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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 More...
NCBI chr 3:69,156,012...69,188,256
Ensembl chr 3:69,133,978...69,188,192
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GJA4
gap junction protein alpha 4
ISO
ClinVar Annotator: match by term: Cutaneous venous malformation
ClinVar
PMID:33912852
NCBI chr 6:91,045,430...91,048,161
Ensembl chr 6:91,045,394...91,048,162
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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
OMIM ClinVar
PMID:7783168 PMID:7833915 PMID:8415706 PMID:8980225 PMID:9926914 PMID:10369874 PMID:19888299 PMID:20301733 PMID:25326635 PMID:25741868 PMID:26319232 PMID:27270174 PMID:28492532 More...
NCBI chr 1:195,938,177...196,052,294
Ensembl chr 1:195,937,432...196,051,980
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CFTR
CF transmembrane conductance regulator
ISO
ClinVar Annotator: match by term: Fetal cystic hygroma
ClinVar
PMID:1695717 PMID:7683952 PMID:7691345 PMID:9239681 PMID:9725922 PMID:12815607 PMID:16199547 PMID:20059485 PMID:23974870 PMID:25741868 PMID:27240813 PMID:28492532 PMID:29879995 PMID:31036917 PMID:31131953 PMID:32357917 More...
NCBI chr18:28,627,717...28,818,209
Ensembl chr18:28,627,728...28,817,950
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LZTR1
leucine zipper like post translational regulator 1
ISO
ClinVar Annotator: match by term: Fetal cystic hygroma
ClinVar
PMID:25741868 PMID:25795793 PMID:28492532 PMID:30368668 PMID:30442762 PMID:30442766 PMID:30481304 PMID:30859559 PMID:31825158 More...
NCBI chr14:50,576,413...50,590,397
Ensembl chr14:50,576,624...50,590,397
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SOS1
SOS Ras/Rac guanine nucleotide exchange factor 1
ISO
ClinVar Annotator: match by term: Nuchal bleb, familial
ClinVar
PMID:17143285 PMID:17586837 PMID:20186801 PMID:21387466 PMID:22494877 PMID:23487764 PMID:24033266 PMID:24458522 PMID:25741868 PMID:28492532 PMID:29907801 PMID:30325180 PMID:30784236 PMID:31560489 More...
NCBI chr 3:101,209,568...101,366,057
Ensembl chr 3:101,209,641...101,362,723
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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 chr15:105,971,577...106,132,496
Ensembl chr15:105,970,428...106,135,730
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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 1:131,244,818...131,355,240
Ensembl chr 1:131,245,466...131,355,226
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APC
APC regulator of WNT signaling pathway
ISO
ClinVar Annotator: match by term: Sigmoid colon cancer
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 2:116,913,354...116,985,303
Ensembl chr 2:116,812,582...117,034,887
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MSH2
mutS homolog 2
ISO
ClinVar Annotator: match by term: Sigmoid colon cancer
ClinVar
PMID:10495924 PMID:12658575 PMID:15849733 PMID:17312306 PMID:18566915 PMID:20215533 PMID:23741719 PMID:24323032 PMID:24362816 PMID:25117503 PMID:25648859 PMID:25741868 PMID:26177554 PMID:26659639 PMID:27013479 PMID:27601186 PMID:28492532 PMID:28790115 PMID:31162827 PMID:33977078 PMID:34680242 More...
NCBI chr 3:93,082,958...93,163,556
Ensembl chr 3:93,081,219...93,163,585
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MSH6
mutS homolog 6
ISO
ClinVar Annotator: match by term: Sigmoid colon cancer
ClinVar
PMID:9354786 PMID:12376507 PMID:18809606 PMID:19924528 PMID:20176959 PMID:22283331 PMID:24710284 PMID:24728327 PMID:25536104 PMID:25741868 PMID:26046366 PMID:26467025 PMID:28492532 More...
NCBI chr 3:92,792,590...92,814,154
Ensembl chr 3:92,785,664...92,814,238
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GJA4
gap junction protein alpha 4
ISO
ClinVar Annotator: match by term: Skin hemangioma
ClinVar
PMID:33912852
NCBI chr 6:91,045,430...91,048,161
Ensembl chr 6:91,045,394...91,048,162
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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 2:94,980,938...95,019,053
Ensembl chr 2:94,980,941...95,018,634
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FN1
fibronectin 1
ISO
mRNA, protein:increased expression:cerebral cortex
RGD
PMID:12621118
RGD:1358624
NCBI chr15:117,658,158...117,737,145
Ensembl chr15:117,658,099...117,731,014
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GNAQ
G protein subunit alpha q
ISO
ClinVar Annotator: match by term: Sturge-Weber syndrome
OMIM ClinVar
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 1:230,607,469...230,906,988
Ensembl chr 1:230,605,265...230,907,674
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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 1:164,381,892...164,469,313
Ensembl chr 1:164,381,845...164,471,226
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MMP2
matrix metallopeptidase 2
severity
ISO
protein:increased expression:urine
RGD
PMID:23720035
RGD:13204823
NCBI chr 6:30,059,247...30,087,031
Ensembl chr 6:30,058,595...30,086,982
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MMP9
matrix metallopeptidase 9
severity
ISO
protein:increased expression:urine
RGD
PMID:23720035
RGD:13204823
NCBI chr17:48,179,690...48,186,782
Ensembl chr17:48,179,671...48,186,788
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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 2:94,879,615...94,992,725
Ensembl chr 2:94,878,911...94,993,450
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MACF1
microtubule actin crosslinking factor 1
ISO
ClinVar Annotator: match by term: Facial hemangioma
ClinVar
PMID:31474318
NCBI chr 6:94,960,385...95,318,126
Ensembl chr 6:95,153,005...95,301,618
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GNA14
G protein subunit alpha 14
ISO
ClinVar Annotator: match by term: Tufted angioma
ClinVar
PMID:25741868
NCBI chr 1:230,341,947...230,545,123
Ensembl chr 1:230,341,942...230,546,120
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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 chr 8:41,809,116...41,856,379
Ensembl chr 8:41,809,122...41,856,336
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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 chr13:200,121,796...200,201,712
Ensembl chr13:200,128,477...200,145,525
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EPHB4
EPH receptor B4
ISO
ClinVar Annotator: match by term: Galen vein aneurysm
ClinVar
PMID:30578106
NCBI chr 3:8,671,052...8,689,778
Ensembl chr 3:8,668,859...8,689,783
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KAT6A
lysine acetyltransferase 6A
ISO
ClinVar Annotator: match by term: Galen vein aneurysm
ClinVar
PMID:30578106
NCBI chr17:11,002,818...11,109,974
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KEL
Kell metallo-endopeptidase
ISO
ClinVar Annotator: match by term: Galen vein aneurysm
ClinVar
PMID:30578106
NCBI chr18:7,242,378...7,279,345
Ensembl chr18:7,259,144...7,279,328
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KMT2D
lysine methyltransferase 2D
ISO
ClinVar Annotator: match by term: Galen vein aneurysm
ClinVar
PMID:28492532 PMID:30578106
NCBI chr 5:15,049,827...15,091,622
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SMARCA2
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2
ISO
ClinVar Annotator: match by term: Galen vein aneurysm
ClinVar
PMID:30578106
NCBI chr 1:219,624,773...219,815,438
Ensembl chr 1:219,573,535...219,815,421
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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 chr12:15,228,979...15,298,784
Ensembl chr12:15,230,182...15,298,784
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BRK1
BRICK1 subunit of SCAR/WAVE actin nucleating complex
ISO
ClinVar Annotator: match by term: Von Hippel-Lindau syndrome
ClinVar
PMID:25741868
NCBI chr13:66,315,438...66,324,641
Ensembl chr13:66,315,315...66,324,641
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CCND1
cyclin D1
ISO
ClinVar Annotator: match by term: VON HIPPEL-LINDAU SYNDROME, MODIFIER OF
ClinVar OMIM
PMID:10667569 PMID:11459873 PMID:12097293 PMID:23502783 PMID:24870244 PMID:25741868 More...
NCBI chr 2:3,621,242...3,633,380
Ensembl chr 2:3,621,246...3,633,296
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EPAS1
endothelial PAS domain protein 1
ISO
protein:increased expression:kidney:
RGD
PMID:22299048
RGD:11041600
NCBI chr 3:94,167,759...94,253,662
Ensembl chr 3:94,165,816...94,254,079
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IRAK2
interleukin 1 receptor associated kinase 2
ISO
ClinVar Annotator: match by term: Von Hippel-Lindau syndrome
ClinVar
PMID:25741868
NCBI chr13:66,350,606...66,416,834
Ensembl chr13:66,350,606...66,416,827
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MMP3
matrix metallopeptidase 3
onset
ISO
RGD
PMID:19551141
RGD:7241233
NCBI chr 9:33,446,969...33,453,995
Ensembl chr 9:33,446,836...33,454,000
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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 6:75,648,362...75,678,111
Ensembl chr 6:75,648,215...75,678,378
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SLC18A1
solute carrier family 18 member A1
ISO
mRNA:increased expression:tumor (human)
RGD
PMID:16189177
RGD:5131200
NCBI chr14:4,243,553...4,279,341
Ensembl chr14:4,243,557...4,275,243
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VHL
von Hippel-Lindau tumor suppressor
ISO
ClinVar Annotator: match by term: VHL syndrome | ClinVar Annotator: match by term: Von Hippel-Lindau | ClinVar Annotator: match by term: Von Hippel-Lindau syndrome
OMIM ClinVar
PMID:982991 PMID:1056348 PMID:2362675 PMID:2844285 PMID: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: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 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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 chr13:66,334,535...66,342,401
Ensembl chr13:66,334,591...66,342,654
G
TMTC4
transmembrane O-mannosyltransferase targeting cadherins 4
ISO
ClinVar Annotator: match by term: Worster-Drought syndrome
ClinVar
PMID:24375697
NCBI chr11:69,361,219...69,442,769
Ensembl chr11:69,361,229...69,443,039
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all