|
G |
Agt |
angiotensinogen |
|
ISO |
protein:increased expression:serum: protein:increased expression:intestine: |
RGD |
PMID:21955427 PMID:24219762 |
RGD:155663361 RGD:155663363 |
NCBI chrNW_004624775:18,846,222...18,856,093
Ensembl chrNW_004624775:18,849,118...18,855,577
|
|
G |
Braf |
B-Raf proto-oncogene, serine/threonine kinase |
|
ISO |
ClinVar Annotator: match by term: Vascular 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:14681681 PMID:15001635 PMID:15035987 PMID:15046639 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:24033266 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 chrNW_004624765:20,766,368...20,951,560
Ensembl chrNW_004624765:20,773,885...20,951,736
|
|
G |
Ccnh |
cyclin H |
|
ISO |
ClinVar Annotator: match by term: Vascular malformation |
ClinVar |
PMID:18363760 PMID:18446851 PMID:24038909 PMID:25040287 PMID:25741868 PMID:28492532 PMID:29891884 More...
|
|
NCBI chrNW_004624743:6,883,124...6,902,518
Ensembl chrNW_004624743:6,883,114...6,902,745
|
|
G |
Dll4 |
delta like canonical Notch ligand 4 |
|
ISO |
protein:increased expression:serum: protein:increased expression:intestine: |
RGD |
PMID:21955427 PMID:24219762 |
RGD:155663361 RGD:155663363 |
NCBI chrNW_004624804:8,179,729...8,189,001
Ensembl chrNW_004624804:8,179,731...8,191,284
|
|
G |
Hras |
HRas proto-oncogene, GTPase |
|
ISO |
ClinVar Annotator: match by term: Vascular malformation |
ClinVar |
PMID:25741868 |
|
NCBI chrNW_004624766:21,907,423...21,913,414
Ensembl chrNW_004624766:21,911,241...21,913,653
|
|
G |
Idh2 |
isocitrate dehydrogenase (NADP(+)) 2 |
|
ISO |
ClinVar Annotator: match by term: Vascular malformation |
ClinVar |
|
|
NCBI chrNW_004624768:17,094,649...17,111,333
Ensembl chrNW_004624768:17,094,655...17,111,397
|
|
G |
Kras |
KRAS proto-oncogene, GTPase |
|
ISO |
ClinVar Annotator: match by term: Vascular malformation |
ClinVar |
PMID:7773929 PMID:12460918 PMID:15696205 PMID:16361624 PMID:16618717 PMID:17332249 PMID:17384584 PMID:17704260 PMID:18316791 PMID:18594010 PMID:18794081 PMID:19114683 PMID:19255327 PMID:19358724 PMID:19679400 PMID:19773371 PMID:20805368 PMID:20921462 PMID:20921465 PMID:21228335 PMID:22683711 PMID:23096712 PMID:23255105 PMID:23406027 PMID:24033266 PMID:25157968 PMID:25741868 PMID:26242988 PMID:26521233 PMID:28492532 More...
|
|
NCBI chrNW_004624752:13,809,741...13,847,020
Ensembl chrNW_004624752:13,809,775...13,844,166
|
|
G |
Lrrc56 |
leucine rich repeat containing 56 |
|
ISO |
ClinVar Annotator: match by term: Vascular malformation |
ClinVar |
PMID:25741868 |
|
NCBI chrNW_004624766:21,895,967...21,910,727
Ensembl chrNW_004624766:21,896,933...21,907,911
|
|
G |
Map2k1 |
mitogen-activated protein kinase kinase 1 |
|
ISO |
ClinVar Annotator: match by term: Vascular malformation |
ClinVar |
PMID:25741868 |
|
NCBI chrNW_004624781:6,222,365...6,285,398
Ensembl chrNW_004624781:6,222,365...6,285,531
|
|
G |
Notch1 |
notch receptor 1 |
|
ISO |
protein:increased expression:intestine: protein:increased expression:serum: |
RGD |
PMID:21955427 PMID:24219762 |
RGD:155663361 RGD:155663363 |
NCBI chrNW_004624760:1,636,331...1,676,398
Ensembl chrNW_004624760:1,634,702...1,676,531
|
|
G |
Pik3ca |
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha |
|
ISO |
DNA:missense mutation:exon 20:p.H1047R (mouse) |
RGD |
PMID:25958091 |
RGD:13207411 |
NCBI chrNW_004624730:56,895,065...56,970,563
Ensembl chrNW_004624730:56,938,215...56,966,137
|
|
G |
Pik3r1 |
phosphoinositide-3-kinase regulatory subunit 1 |
|
ISO |
ClinVar Annotator: match by term: Vascular malformation |
ClinVar |
PMID:25157968 PMID:25741868 PMID:26619011 |
|
NCBI chrNW_004624815:1,290,106...1,376,961
Ensembl chrNW_004624815:1,289,997...1,369,610
|
|
G |
Rasa1 |
RAS p21 protein activator 1 |
|
ISO |
ClinVar Annotator: match by term: Vascular malformation |
ClinVar |
PMID:18363760 PMID:18446851 PMID:24038909 PMID:25040287 PMID:25741868 PMID:28492532 PMID:29891884 More...
|
|
NCBI chrNW_004624743:6,750,476...6,882,556
Ensembl chrNW_004624743:6,788,108...6,882,223
|
|
G |
Tek |
TEK receptor tyrosine kinase |
|
ISO |
ClinVar Annotator: match by term: Vascular malformation |
ClinVar |
PMID:25741868 |
|
NCBI chrNW_004624736:31,345,774...31,473,727
|
|
G |
Yes1 |
YES proto-oncogene 1, Src family tyrosine kinase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24478334 |
|
NCBI chrNW_004624770:11,190,103...11,275,823
Ensembl chrNW_004624770:11,190,595...11,221,512
|
|
|
G |
Ankib1 |
ankyrin repeat and IBR domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Angiokeratoma corporis diffusum with arteriovenous fistulas |
ClinVar |
PMID:25741868 |
|
NCBI chrNW_004624809:787,932...978,315
Ensembl chrNW_004624809:790,496...927,430
|
|
G |
Krit1 |
KRIT1 ankyrin repeat containing |
|
ISO |
ClinVar Annotator: match by term: Angiokeratoma corporis diffusum with arteriovenous fistulas |
ClinVar |
PMID:20419355 PMID:25525273 PMID:25741868 PMID:26467025 PMID:28492532 |
|
NCBI chrNW_004624809:978,391...1,036,313
Ensembl chrNW_004624809:978,789...1,039,091
|
|
|
G |
Acta2 |
actin alpha 2, smooth muscle |
|
ISO |
ClinVar Annotator: match by term: Arterial tortuosity |
ClinVar |
PMID:25741868 |
|
NCBI chrNW_004624791:15,243,074...15,259,362
Ensembl chrNW_004624791:15,242,432...15,259,508
|
|
G |
Efemp2 |
EGF containing fibulin extracellular matrix protein 2 |
|
ISO |
DNA:missense mutation:CDS:p.D203A (human) |
RGD |
PMID:22943132 |
RGD:42722010 |
NCBI chrNW_004624767:20,559,801...20,566,326
Ensembl chrNW_004624767:20,559,795...20,566,341
|
|
G |
Emilin1 |
elastin microfibril interfacer 1 |
|
ISO |
ClinVar Annotator: match by term: Arterial tortuosity |
ClinVar |
PMID:28492532 PMID:36351433 |
|
NCBI chrNW_004624738:9,180,944...9,189,025
Ensembl chrNW_004624738:9,180,877...9,189,025
|
|
G |
Flna |
filamin A |
|
ISO |
ClinVar Annotator: match by term: Arterial tortuosity |
ClinVar |
PMID:25741868 |
|
NCBI chrNW_004624946:812,278...836,307
Ensembl chrNW_004624946:812,287...837,273
|
|
G |
Mus81 |
MUS81 structure-specific endonuclease subunit |
|
ISO |
OMIM:208050 |
MouseDO |
|
|
NCBI chrNW_004624767:20,567,465...20,573,622
Ensembl chrNW_004624767:20,567,465...20,572,866
|
|
G |
Slc2a10 |
solute carrier family 2 member 10 |
|
ISO |
ClinVar Annotator: match by term: Arterial tortuosity syndrome |
OMIM ClinVar |
PMID:9536098 PMID:12801113 PMID:14569121 PMID:16199547 PMID:16550171 PMID:17163528 PMID:17576681 PMID:17935213 PMID:18565096 PMID:18774132 PMID:18818946 PMID:19028722 PMID:19622975 PMID:19781076 PMID:22488877 PMID:23410549 PMID:23494979 PMID:24033266 PMID:25373504 PMID:25741868 PMID:25907466 PMID:25944730 PMID:26376865 PMID:27153185 PMID:28152038 PMID:28492532 PMID:28726533 PMID:28829359 PMID:28855619 PMID:29323665 PMID:29543232 PMID:29907982 PMID:30090112 PMID:30425910 PMID:32368696 PMID:33144682 PMID:33461977 PMID:34498425 PMID:34668355 PMID:34847858 PMID:35918752 PMID:37619836 More...
|
|
NCBI chrNW_004624790:7,967,398...7,982,312
Ensembl chrNW_004624790:7,966,694...7,982,367
|
|
|
G |
Ace |
angiotensin I converting enzyme |
treatment |
ISO |
protein:increased activity:heart left ventricle (rat) |
RGD |
PMID:8386093 PMID:22768235 |
RGD:12859285 RGD:12880017 |
NCBI chrNW_004624849:998,262...1,019,305
Ensembl chrNW_004624849:998,277...1,019,521
|
|
G |
Ackr1 |
atypical chemokine receptor 1 (Duffy blood group) |
|
ISO |
|
RGD |
PMID:24429330 |
RGD:9681736 |
NCBI chrNW_004624794:2,055,917...2,124,815
Ensembl chrNW_004624794:2,120,786...2,122,232
|
|
G |
Angpt2 |
angiopoietin 2 |
|
ISO |
mRNA:increased expression:lung (rat) |
RGD |
PMID:18692629 |
RGD:2314184 |
NCBI chrNW_004624861:4,457,519...4,510,035
Ensembl chrNW_004624861:4,457,158...4,509,623
|
|
G |
Arrb1 |
arrestin beta 1 |
|
ISO |
mRNA, protein:altered expression:left ventricle (rat) |
RGD |
PMID:22015551 |
RGD:5509867 |
NCBI chrNW_004624817:1,750,448...1,828,399
Ensembl chrNW_004624817:1,750,156...1,823,309
|
|
G |
Arrb2 |
arrestin beta 2 |
|
ISO |
mRNA, protein:altered expression:left ventricle (rat) |
RGD |
PMID:22015551 |
RGD:5509867 |
NCBI chrNW_004624786:8,568,102...8,576,445
Ensembl chrNW_004624786:8,568,198...8,577,914
|
|
G |
Col1a1 |
collagen type I alpha 1 chain |
|
ISO |
in Long Evans rats;mRNA:increased expression:aorta |
RGD |
PMID:16428894 |
RGD:8552771 |
NCBI chrNW_004624795:6,167,504...6,183,208
Ensembl chrNW_004624795:6,168,797...6,183,071
|
|
G |
Des |
desmin |
|
ISO |
|
RGD |
PMID:10591032 |
RGD:13525010 |
NCBI chrNW_004624823:5,624,958...5,632,234
Ensembl chrNW_004624823:5,622,283...5,632,283
|
|
G |
Fgf2 |
fibroblast growth factor 2 |
|
ISO |
|
RGD |
PMID:10541235 |
RGD:8655590 |
NCBI chrNW_004624777:3,268,674...3,321,424
Ensembl chrNW_004624777:3,268,953...3,321,145
|
|
G |
Mmp2 |
matrix metallopeptidase 2 |
treatment |
ISO |
protein:increased expression:ileal vein |
RGD |
PMID:17398390 PMID:23924957 |
RGD:13204800 RGD:1642040 |
NCBI chrNW_004624757:1,450,680...1,479,160
Ensembl chrNW_004624757:1,448,698...1,479,255
|
|
G |
Mmp9 |
matrix metallopeptidase 9 |
treatment |
ISO |
|
RGD |
PMID:17398390 PMID:23924957 |
RGD:13204800 RGD:1642040 |
NCBI chrNW_004624790:8,584,399...8,591,763
Ensembl chrNW_004624790:8,583,457...8,591,713
|
|
G |
Nos3 |
nitric oxide synthase 3 |
|
ISO |
protein:increased expression:vena cava |
RGD |
PMID:17344190 |
RGD:2292146 |
NCBI chrNW_004624800:5,600,215...5,619,020
Ensembl chrNW_004624800:5,600,212...5,619,004
|
|
G |
Rbp4 |
retinol binding protein 4 |
exacerbates |
ISO |
protein:increased expression:blood serum (human) |
RGD |
PMID:33556944 |
RGD:329845868 |
NCBI chrNW_004624737:4,795,054...4,800,830
Ensembl chrNW_004624737:4,791,628...4,800,989
|
|
G |
Timp4 |
TIMP metallopeptidase inhibitor 4 |
|
ISO |
protein:decreased expression:ileal vein |
RGD |
PMID:17398390 |
RGD:1642040 |
NCBI chrNW_004624956:331,275...341,561
Ensembl chrNW_004624956:330,327...337,299
|
|
G |
Vegfa |
vascular endothelial growth factor A |
|
ISO |
protein:increased expression:brain cortex, brain dura mater: |
RGD |
PMID:10541235 PMID:24626343 |
RGD:8551823 RGD:8655590 |
NCBI chrNW_004624754:15,929,414...15,943,637
|
|
|
G |
Acvrl1 |
activin A receptor like type 1 |
|
ISO |
|
RGD |
PMID:11062473 |
RGD:1300250 |
NCBI chrNW_004624816:402,412...426,217
Ensembl chrNW_004624816:404,358...426,217
|
|
G |
Eng |
endoglin |
susceptibility |
ISO |
associated with Telangiectasia, Hereditary Hemorrhagic; |
RGD |
PMID:8728706 PMID:24520391 |
RGD:11041184 RGD:11041564 |
NCBI chrNW_004624760:7,703,979...7,735,636
Ensembl chrNW_004624760:7,703,820...7,734,457
|
|
G |
Ephb4 |
EPH receptor B4 |
|
ISO |
ClinVar Annotator: match by term: Arteriovenous malformation |
ClinVar |
PMID:25741868 PMID:28687708 PMID:30578106 PMID:30760892 |
|
NCBI chrNW_004624740:16,320,672...16,339,454
Ensembl chrNW_004624740:16,320,697...16,339,777
|
|
G |
Glmn |
glomulin, FKBP associated protein |
|
ISO |
glomuvenous malformations |
RGD |
PMID:11845407 |
RGD:1598992 |
NCBI chrNW_004624742:5,434,588...5,477,647
|
|
G |
Map2 |
microtubule associated protein 2 |
|
ISO |
protein:decreased expression:hippocampus |
RGD |
PMID:20873448 |
RGD:6483324 |
NCBI chrNW_004624765:6,476,544...6,758,959
Ensembl chrNW_004624765:6,476,346...6,546,116
|
|
G |
Mmp9 |
matrix metallopeptidase 9 |
|
ISO |
|
RGD |
PMID:16720380 |
RGD:1582655 |
NCBI chrNW_004624790:8,584,399...8,591,763
Ensembl chrNW_004624790:8,583,457...8,591,713
|
|
G |
Pik3ca |
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha |
|
ISO |
ClinVar Annotator: match by term: Arteriovenous malformation |
ClinVar |
|
|
NCBI chrNW_004624730:56,895,065...56,970,563
Ensembl chrNW_004624730:56,938,215...56,966,137
|
|
G |
Rasa1 |
RAS p21 protein activator 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:14639529 PMID:15917201 |
RGD:1581296 |
NCBI chrNW_004624743:6,750,476...6,882,556
Ensembl chrNW_004624743:6,788,108...6,882,223
|
|
G |
Tek |
TEK receptor tyrosine kinase |
susceptibility |
ISO |
DNA:missense mutation: :p.R849W |
RGD |
PMID:8980225 |
RGD:1578533 |
NCBI chrNW_004624736:31,345,774...31,473,727
|
|
|
G |
Acvrl1 |
activin A receptor like type 1 |
|
ISO |
OMIM:108010 |
MouseDO |
|
|
NCBI chrNW_004624816:402,412...426,217
Ensembl chrNW_004624816:404,358...426,217
|
|
G |
Adgrv1 |
adhesion G protein-coupled receptor V1 |
|
ISO |
ClinVar Annotator: match by term: Cerebral arteriovenous malformation |
ClinVar |
PMID:25741868 |
|
NCBI chrNW_004624743:9,849,070...10,292,392
|
|
G |
Braf |
B-Raf proto-oncogene, serine/threonine kinase |
|
ISO |
ClinVar Annotator: match by term: Arteriovenous malformations of the brain | ClinVar Annotator: match by term: Cerebral arteriovenous malformation |
ClinVar |
PMID:12068308 PMID:12198537 PMID:12447372 PMID:12460918 PMID:12460919 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 chrNW_004624765:20,766,368...20,951,560
Ensembl chrNW_004624765:20,773,885...20,951,736
|
|
G |
Cacna1h |
calcium voltage-gated channel subunit alpha1 H |
|
ISO |
ClinVar Annotator: match by term: Cerebral arteriovenous malformation |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chrNW_004624913:1,926,405...1,952,426
Ensembl chrNW_004624913:1,891,156...1,949,633
|
|
G |
Cdh2 |
cadherin 2 |
|
ISO |
ClinVar Annotator: match by term: Cerebral arteriovenous malformation |
ClinVar |
PMID:25741868 |
|
NCBI chrNW_004624770:4,333,643...4,540,817
Ensembl chrNW_004624770:4,334,202...4,545,470
|
|
G |
Egfr |
epidermal growth factor receptor |
|
ISO |
ClinVar Annotator: match by term: Cerebral arteriovenous malformation |
ClinVar |
PMID:25741868 |
|
NCBI chrNW_004624740:584,133...713,205
Ensembl chrNW_004624740:589,606...713,271
|
|
G |
Eng |
endoglin |
disease_progression |
ISO |
DNA:polymorphism: : 207G>A(human) ClinVar Annotator: match by term: Cerebral arteriovenous malformation |
RGD ClinVar |
PMID:15879500 PMID:24876084 PMID:25741868 PMID:28492532 PMID:30120215 |
RGD:11041171 |
NCBI chrNW_004624760:7,703,979...7,735,636
Ensembl chrNW_004624760:7,703,820...7,734,457
|
|
G |
Flt1 |
fms related receptor tyrosine kinase 1 |
|
ISO |
protein:increased expression:endothelial cell: |
RGD |
PMID:11220380 |
RGD:8551824 |
NCBI chrNW_004624776:10,043,113...10,218,598
Ensembl chrNW_004624776:10,043,258...10,219,104
|
|
G |
Gli2 |
GLI family zinc finger 2 |
|
ISO |
ClinVar Annotator: match by term: Arteriovenous malformations of the brain |
ClinVar |
PMID:25741868 |
|
NCBI chrNW_004624732:24,159,407...24,381,495
Ensembl chrNW_004624732:24,159,312...24,328,452
|
|
G |
Il17rd |
interleukin 17 receptor D |
|
ISO |
ClinVar Annotator: match by term: Cerebral arteriovenous malformation |
ClinVar |
PMID:25636053 PMID:25741868 PMID:28492532 PMID:32389901 |
|
NCBI chrNW_004624822:150,955...219,939
Ensembl chrNW_004624822:150,992...214,107
|
|
G |
Il6 |
interleukin 6 |
|
ISO |
|
OMIM |
|
|
NCBI chrNW_004624739:7,957,709...7,963,414
Ensembl chrNW_004624739:7,957,674...7,962,318
|
|
G |
Kdr |
kinase insert domain receptor |
|
ISO |
protein:increased expression:endothelial cell: |
RGD |
PMID:11220380 |
RGD:8551824 |
NCBI chrNW_004624761:14,330,224...14,380,680
Ensembl chrNW_004624761:14,330,489...14,379,051
|
|
G |
Kras |
KRAS proto-oncogene, GTPase |
|
ISO |
ClinVar Annotator: match by term: Arteriovenous malformations of the brain ClinVar Annotator: match by term: Arteriovenous malformations of the brain | ClinVar Annotator: match by term: Cerebral arteriovenous malformation |
OMIM ClinVar |
PMID:2278970 PMID:3122217 PMID:7773929 PMID:8439212 PMID:12110640 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 chrNW_004624752:13,809,741...13,847,020
Ensembl chrNW_004624752:13,809,775...13,844,166
|
|
G |
Map4k4 |
mitogen-activated protein kinase kinase kinase kinase 4 |
|
ISO |
ClinVar Annotator: match by term: Cerebral arteriovenous malformation |
ClinVar |
PMID:25741868 |
|
NCBI chrNW_004624749:6,332,686...6,495,942
Ensembl chrNW_004624749:6,332,534...6,495,942
|
|
G |
Nlrp3 |
NLR family pyrin domain containing 3 |
|
ISO |
ClinVar Annotator: match by term: Cerebral arteriovenous malformation |
ClinVar |
|
|
NCBI chrNW_004624937:564,191...584,470
|
|
G |
Notch4 |
notch receptor 4 |
|
ISO |
ClinVar Annotator: match by term: Cerebral arteriovenous malformation |
ClinVar |
PMID:25741868 PMID:27231971 |
|
NCBI chrNW_004624754:24,108,661...24,128,053
|
|
G |
Pdcd10 |
programmed cell death 10 |
|
ISO |
ClinVar Annotator: match by term: Arteriovenous malformations of the brain |
ClinVar |
PMID:9536098 PMID:16329096 PMID:17576681 PMID:24466005 PMID:25122144 PMID:25741868 PMID:28492532 More...
|
|
NCBI chrNW_004624730:45,653,470...45,698,461
Ensembl chrNW_004624730:45,654,022...45,678,745
|
|
G |
Pitpnm3 |
PITPNM family member 3 |
|
ISO |
ClinVar Annotator: match by term: Cerebral arteriovenous malformation |
ClinVar |
PMID:25741868 |
|
NCBI chrNW_004624786:7,484,829...7,568,020
Ensembl chrNW_004624786:7,485,092...7,567,993
|
|
G |
Prex2 |
phosphatidylinositol-3,4,5-trisphosphate dependent Rac exchange factor 2 |
|
ISO |
ClinVar Annotator: match by term: Cerebral arteriovenous malformation |
ClinVar |
PMID:25741868 |
|
NCBI chrNW_004624744:22,941,194...23,208,987
Ensembl chrNW_004624744:22,946,979...23,172,122
|
|
G |
Sars1 |
seryl-tRNA synthetase 1 |
|
ISO |
ClinVar Annotator: match by term: Cerebral arteriovenous malformation |
ClinVar |
PMID:25741868 |
|
NCBI chrNW_004624772:4,963,173...4,978,294
|
|
G |
Scube2 |
signal peptide, CUB domain and EGF like domain containing 2 |
|
ISO |
ClinVar Annotator: match by term: Cerebral arteriovenous malformation |
ClinVar |
PMID:25741868 |
|
NCBI chrNW_004624766:1,158,607...1,241,797
Ensembl chrNW_004624766:1,151,793...1,241,774
|
|
G |
Syn3 |
synapsin III |
|
ISO |
ClinVar Annotator: match by term: Cerebral arteriovenous malformation |
ClinVar |
PMID:25741868 |
|
NCBI chrNW_004624750:1,663,309...1,976,738
Ensembl chrNW_004624750:1,699,107...1,972,252
|
|
G |
Timp3 |
TIMP metallopeptidase inhibitor 3 |
|
ISO |
ClinVar Annotator: match by term: Cerebral arteriovenous malformation |
ClinVar |
PMID:25741868 |
|
NCBI chrNW_004624750:1,776,197...1,817,279
Ensembl chrNW_004624750:1,775,744...1,817,385
|
|
G |
Vegfa |
vascular endothelial growth factor A |
|
ISO |
|
RGD |
PMID:16388189 |
RGD:1580567 |
NCBI chrNW_004624754:15,929,414...15,943,637
|
|
G |
Zfyve16 |
zinc finger FYVE-type containing 16 |
|
ISO |
ClinVar Annotator: match by term: Cerebral arteriovenous malformation |
ClinVar |
PMID:25741868 |
|
NCBI chrNW_004624743:1,339,650...1,383,883
|
|
|
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 chrNW_004624743:6,883,124...6,902,518
Ensembl chrNW_004624743:6,883,114...6,902,745
|
|
G |
Ephb4 |
EPH receptor B4 |
|
ISO |
ClinVar Annotator: match by term: Capillary malformation-arteriovenous malformation syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chrNW_004624740:16,320,672...16,339,454
Ensembl chrNW_004624740:16,320,697...16,339,777
|
|
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 chrNW_004624743:6,750,476...6,882,556
Ensembl chrNW_004624743:6,788,108...6,882,223
|
|
G |
Stambp |
STAM binding protein |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23542699 |
|
NCBI chrNW_004624749:29,630,847...29,667,611
Ensembl chrNW_004624749:29,630,847...29,667,571
|
|
|
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 chrNW_004624743:6,883,124...6,902,518
Ensembl chrNW_004624743:6,883,114...6,902,745
|
|
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 chrNW_004624752:13,809,741...13,847,020
Ensembl chrNW_004624752:13,809,775...13,844,166
|
|
G |
Pik3ca |
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha |
|
ISO |
ClinVar Annotator: match by term: Capillary malformation-arteriovenous malformation 1 |
ClinVar |
|
|
NCBI chrNW_004624730:56,895,065...56,970,563
Ensembl chrNW_004624730:56,938,215...56,966,137
|
|
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 chrNW_004624743:6,750,476...6,882,556
Ensembl chrNW_004624743:6,788,108...6,882,223
|
|
|
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 chrNW_004624740:16,320,672...16,339,454
Ensembl chrNW_004624740:16,320,697...16,339,777
|
|
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 chrNW_004624740:16,297,332...16,307,888
Ensembl chrNW_004624740:16,297,217...16,307,988
|
|
|
G |
Krit1 |
KRIT1 ankyrin repeat containing |
|
ISO |
ClinVar Annotator: match by term: Cavernous malformations of CNS and retina |
ClinVar |
PMID:11831930 |
|
NCBI chrNW_004624809:978,391...1,036,313
Ensembl chrNW_004624809:978,789...1,039,091
|
|
|
G |
Ccm2 |
CCM2 scaffold protein |
susceptibility |
ISO |
DNA:deletions: ; Cerebral cavernous malformations, OMIM:603284 |
RGD |
PMID:17160895 |
RGD:1600689 |
NCBI chrNW_004624740:7,308,178...7,348,681
Ensembl chrNW_004624740:7,308,177...7,348,689
|
|
G |
Col4a1 |
collagen type IV alpha 1 chain |
|
ISO |
DNA:snp:cds:p.G562E (human) |
RGD |
PMID:16598045 |
RGD:1581204 |
NCBI chrNW_004624793:2,325,104...2,426,814
Ensembl chrNW_004624793:2,325,128...2,426,817
|
|
|
G |
Ccnh |
cyclin H |
|
ISO |
ClinVar Annotator: match by term: Cerebral venous angioma |
ClinVar |
PMID:23650393 PMID:25741868 PMID:31680349 |
|
NCBI chrNW_004624743:6,883,124...6,902,518
Ensembl chrNW_004624743:6,883,114...6,902,745
|
|
G |
Rasa1 |
RAS p21 protein activator 1 |
|
ISO |
ClinVar Annotator: match by term: Cerebral venous angioma |
ClinVar |
PMID:23650393 PMID:25741868 PMID:31680349 |
|
NCBI chrNW_004624743:6,750,476...6,882,556
Ensembl chrNW_004624743:6,788,108...6,882,223
|
|
|
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 chrNW_004624809:1,101,941...1,258,402
Ensembl chrNW_004624809:1,103,538...1,257,809
|
|
G |
Ankib1 |
ankyrin repeat and IBR domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Cerebral cavernous malformation |
ClinVar |
PMID:25741868 |
|
NCBI chrNW_004624809:787,932...978,315
Ensembl chrNW_004624809:790,496...927,430
|
|
G |
Ccm2 |
CCM2 scaffold protein |
|
ISO |
ClinVar Annotator: match by term: Cerebral cavernous malformation |
ClinVar |
PMID:25525273 PMID:25741868 PMID:28492532 |
|
NCBI chrNW_004624740:7,308,178...7,348,681
Ensembl chrNW_004624740:7,308,177...7,348,689
|
|
G |
Flt1 |
fms related receptor tyrosine kinase 1 |
|
ISO |
protein:increased expression:endothelial cell: |
RGD |
PMID:11220380 |
RGD:8551824 |
NCBI chrNW_004624776:10,043,113...10,218,598
Ensembl chrNW_004624776:10,043,258...10,219,104
|
|
G |
Kdr |
kinase insert domain receptor |
|
ISO |
protein:increased expression:endothelial cell: |
RGD |
PMID:11220380 |
RGD:8551824 |
NCBI chrNW_004624761:14,330,224...14,380,680
Ensembl chrNW_004624761:14,330,489...14,379,051
|
|
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 chrNW_004624809:978,391...1,036,313
Ensembl chrNW_004624809:978,789...1,039,091
|
|
G |
LOC101724157 |
lanosterol 14-alpha demethylase |
|
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 chrNW_004624809:1,080,427...1,110,802
Ensembl chrNW_004624809:1,080,656...1,100,254
|
|
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 chrNW_004624809:1,052,787...1,067,770
Ensembl chrNW_004624809:1,052,811...1,067,622
|
|
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 chrNW_004624809:1,322,155...1,333,495
|
|
G |
Notch3 |
notch receptor 3 |
|
ISO |
ClinVar Annotator: match by term: Cerebral cavernous malformation |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chrNW_004624901:2,292,257...2,328,433
Ensembl chrNW_004624901:2,292,640...2,328,433
|
|
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 chrNW_004624730:45,653,470...45,698,461
Ensembl chrNW_004624730:45,654,022...45,678,745
|
|
G |
Pon1 |
paraoxonase 1 |
susceptibility |
ISO |
DNA:missense mutations:cds:p.L55M, p.Q192R (human) |
RGD |
PMID:26122242 |
RGD:11552573 |
NCBI chrNW_004624813:1,953,796...1,979,846
Ensembl chrNW_004624813:1,949,614...1,979,882
|
|
G |
Pten |
phosphatase and tensin homolog |
|
ISO |
protein:decreased expression:brain (human) |
RGD |
PMID:19061355 |
RGD:12859036 |
NCBI chrNW_004624791:13,975,235...14,056,900
|
|
G |
Serpini1 |
serpin family I member 1 |
|
ISO |
ClinVar Annotator: match by term: Cavernous Hemangioma of Brain | ClinVar Annotator: match by term: Cerebral cavernous malformation |
ClinVar |
PMID:25741868 |
|
NCBI chrNW_004624730:45,698,714...45,791,744
Ensembl chrNW_004624730:45,739,911...45,795,570
|
|
|
G |
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 chrNW_004624809:978,391...1,036,313
Ensembl chrNW_004624809:978,789...1,039,091
|
|
G |
Pdcd10 |
programmed cell death 10 |
|
ISO |
ClinVar Annotator: match by term: Cerebral cavernous malformation 1 |
ClinVar |
PMID:25741868 |
|
NCBI chrNW_004624730:45,653,470...45,698,461
Ensembl chrNW_004624730:45,654,022...45,678,745
|
|
G |
Ptgis |
prostaglandin I2 synthase |
exacerbates |
ISO |
DNA:silent mutation:CDS:p.L256L (rs5628) (human) |
RGD |
PMID:26795600 |
RGD:401960081 |
NCBI chrNW_004624790:5,850,647...5,885,754
Ensembl chrNW_004624790:5,850,810...5,886,014
|
|
|
G |
Ccm2 |
CCM2 scaffold protein |
|
ISO |
ClinVar Annotator: match by term: Cerebral cavernous malformation 2 |
OMIM ClinVar |
PMID:2468908 PMID:9536098 PMID:14624391 PMID:14740320 PMID:15122722 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 chrNW_004624740:7,308,178...7,348,681
Ensembl chrNW_004624740:7,308,177...7,348,689
|
|
G |
Nacad |
NAC alpha domain containing |
|
ISO |
ClinVar Annotator: match by term: Cerebral cavernous malformation 2 |
ClinVar |
PMID:17160895 PMID:28492532 |
|
NCBI chrNW_004624740:7,299,294...7,307,056
|
|
|
G |
Pdcd10 |
programmed cell death 10 |
onset exacerbates |
ISO |
ClinVar Annotator: match by term: Cerebral cavernous malformation 3 | ClinVar Annotator: match by term: Cerebral cavernous malformations 3 DNA:mutations:multiple (human) |
OMIM ClinVar RGD |
PMID:9536098 PMID:15543491 PMID:16199547 PMID:16329096 PMID:16380626 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 chrNW_004624730:45,653,470...45,698,461
Ensembl chrNW_004624730:45,654,022...45,678,745
|
|
G |
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 chrNW_004624730:45,698,714...45,791,744
Ensembl chrNW_004624730:45,739,911...45,795,570
|
|
|
G |
Pik3ca |
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha |
|
ISO |
ClinVar Annotator: match by term: Cerebral cavernous malformation 4 |
OMIM ClinVar |
PMID:25741868 |
|
NCBI chrNW_004624730:56,895,065...56,970,563
Ensembl chrNW_004624730:56,938,215...56,966,137
|
|
|
G |
Gna14 |
G protein subunit alpha 14 |
|
ISO |
ClinVar Annotator: match by term: Cerebrofacial arteriovenous metameric syndrome |
ClinVar |
|
|
NCBI chrNW_004624811:4,904,428...5,108,713
Ensembl chrNW_004624811:4,909,324...5,108,322
|
|
|
G |
Pik3ca |
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha |
|
ISO |
ClinVar Annotator: match by term: CLAPO syndrome | ClinVar Annotator: match by term: Capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowth |
OMIM ClinVar |
PMID:15016963 PMID:15254419 PMID:15520168 PMID:15608678 PMID:15647370 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 chrNW_004624730:56,895,065...56,970,563
Ensembl chrNW_004624730:56,938,215...56,966,137
|
|
|
G |
Gna11 |
G protein subunit alpha 11 |
|
ISO |
ClinVar Annotator: match by term: Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi |
ClinVar |
PMID:25741868 PMID:27476652 |
|
NCBI chrNW_004624828:6,078,485...6,093,744
Ensembl chrNW_004624828:6,077,851...6,093,750
|
|
G |
Pik3ca |
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha |
|
ISO |
ClinVar Annotator: match by term: CLOVE SYNDROME | ClinVar Annotator: match by term: CLOVES syndrome | ClinVar Annotator: match by term: CONGENITAL LIPOMATOUS OVERGROWTH, VASCULAR MALFORMATIONS, EPIDERMAL NEVI, AND SKELETAL/SPINAL ABNORMALITIES | ClinVar Annotator: match by term: Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi |
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:21078999 PMID:21430269 PMID:21558396 PMID:21824802 PMID:22120714 PMID:22162582 PMID:22162589 PMID:22271473 PMID:22357840 PMID:22370636 PMID:22658544 PMID:22729222 PMID:22729223 PMID:22729224 PMID:22949682 PMID:23066039 PMID:23100325 PMID:23888070 PMID:23946963 PMID:24033266 PMID:24559322 PMID:24782230 PMID:25157968 PMID:25599672 PMID:25681199 PMID:25741868 PMID:25880439 PMID:25915946 PMID:26266975 PMID:26266985 PMID:26619011 PMID:26627007 PMID:26637981 PMID:26822237 PMID:26851524 PMID:27126994 PMID:27626068 PMID:27631024 PMID:28151489 PMID:28425981 PMID:28492532 PMID:28941273 PMID:29296277 PMID:29446767 PMID:29661094 PMID:29758562 PMID:29988677 PMID:30063105 PMID:30376034 PMID:30543347 PMID:31536475 PMID:31775759 PMID:32778138 PMID:34008892 PMID:34496175 PMID:34568242 PMID:34606700 PMID:36474027 PMID:37667289 PMID:37712948 More...
|
|
NCBI chrNW_004624730:56,895,065...56,970,563
Ensembl chrNW_004624730:56,938,215...56,966,137
|
|
G |
Pik3r1 |
phosphoinositide-3-kinase regulatory subunit 1 |
|
ISO |
ClinVar Annotator: match by term: CLOVES syndrome |
ClinVar |
PMID:25741868 PMID:34040190 |
|
NCBI chrNW_004624815:1,290,106...1,376,961
Ensembl chrNW_004624815:1,289,997...1,369,610
|
|
|
G |
Ace |
angiotensin I converting enzyme |
|
ISO |
DNA:deletion:intron:IVS16+1464-1751del (human) |
RGD |
PMID:20488708 |
RGD:11039024 |
NCBI chrNW_004624849:998,262...1,019,305
Ensembl chrNW_004624849:998,277...1,019,521
|
|
G |
Cand2 |
cullin associated and neddylation dissociated 2 (putative) |
|
ISO |
|
RGD |
PMID:31426861 |
RGD:18899564 |
NCBI chrNW_004624872:404,263...429,866
Ensembl chrNW_004624872:404,495...429,322
|
|
|
G |
Gna11 |
G protein subunit alpha 11 |
|
ISO |
ClinVar Annotator: match by term: Capillary malformations, congenital |
ClinVar |
PMID:25741868 PMID:27476652 |
|
NCBI chrNW_004624828:6,078,485...6,093,744
Ensembl chrNW_004624828:6,077,851...6,093,750
|
|
G |
Gnaq |
G protein subunit alpha q |
|
ISO |
ClinVar Annotator: match by term: Familial multiple nevi flammei | ClinVar Annotator: match by term: Port-wine stain familial multiple |
OMIM ClinVar |
PMID:23656586 PMID:25188413 PMID:25741868 |
|
NCBI chrNW_004624811:5,158,665...5,485,812
Ensembl chrNW_004624811:5,163,793...5,486,140
|
|
G |
Pik3ca |
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha |
|
ISO |
ClinVar Annotator: match by term: Capillary malformations, congenital |
ClinVar |
PMID:15930273 PMID:17376864 PMID:18074223 PMID:22120714 PMID:22658544 PMID:22949682 PMID:23946963 PMID:24033266 PMID:24782230 PMID:25157968 PMID:25741868 PMID:26619011 PMID:27631024 PMID:28492532 PMID:29446767 PMID:32778138 PMID:34008892 More...
|
|
NCBI chrNW_004624730:56,895,065...56,970,563
Ensembl chrNW_004624730:56,938,215...56,966,137
|
|
|
G |
Acvrl1 |
activin A receptor like type 1 |
|
ISO |
ClinVar Annotator: match by term: Hereditary hemorrhagic telangiectasia ClinVar Annotator: match by term: Hereditary hemorrhagic telangiectasia | ClinVar Annotator: match by term: Osler hemorrhagic telangiectasia syndrome |
ClinVar |
PMID:9245985 PMID:9536098 PMID:10767348 PMID:10946360 PMID:12114496 PMID:12700602 PMID:12843319 PMID:15024723 PMID:15065824 PMID:15266205 PMID:15517393 PMID:15521985 PMID:15712270 PMID:15712271 PMID:16051269 PMID:16282348 PMID:16429404 PMID:16470787 PMID:16525724 PMID:16540754 PMID:16705692 PMID:16861286 PMID:17095602 PMID:17384219 PMID:17576681 PMID:17786384 PMID:18498373 PMID:18673552 PMID:19115559 PMID:19357124 PMID:19508727 PMID:19767588 PMID:20501893 PMID:20609011 PMID:21158752 PMID:22991266 PMID:23535011 PMID:23722869 PMID:23805858 PMID:23919827 PMID:24001356 PMID:24196379 PMID:24603890 PMID:25637381 PMID:25741868 PMID:26176610 PMID:26387786 PMID:28166811 PMID:28492532 PMID:29398197 PMID:30578397 PMID:31400083 PMID:32300199 PMID:32503579 PMID:32573726 More...
|
|
NCBI chrNW_004624816:402,412...426,217
Ensembl chrNW_004624816:404,358...426,217
|
|
G |
Ak1 |
adenylate kinase 1 |
|
ISO |
ClinVar Annotator: match by term: Hereditary hemorrhagic telangiectasia |
ClinVar |
PMID:15879500 PMID:20414677 PMID:28492532 |
|
NCBI chrNW_004624760:7,684,098...7,693,051
Ensembl chrNW_004624760:7,684,109...7,693,405
|
|
G |
Ccnh |
cyclin H |
|
ISO |
ClinVar Annotator: match by term: Osler hemorrhagic telangiectasia syndrome |
ClinVar |
PMID:18446851 PMID:24038909 PMID:25741868 PMID:28295764 PMID:28492532 PMID:29891884 More...
|
|
NCBI chrNW_004624743:6,883,124...6,902,518
Ensembl chrNW_004624743:6,883,114...6,902,745
|
|
G |
Ciao3 |
cytosolic iron-sulfur assembly component 3 |
|
ISO |
ClinVar Annotator: match by term: Pulmonary arteriovenous malformation |
ClinVar |
|
|
NCBI chrNW_004624913:1,538,561...1,553,409
Ensembl chrNW_004624913:1,538,546...1,553,415
|
|
G |
Dpm2 |
dolichyl-phosphate mannosyltransferase subunit 2, regulatory |
|
ISO |
ClinVar Annotator: match by term: Hereditary hemorrhagic telangiectasia |
ClinVar |
PMID:15879500 PMID:20414677 PMID:28492532 |
|
NCBI chrNW_004624760:7,638,497...7,640,810
Ensembl chrNW_004624760:7,638,437...7,640,810
|
|
G |
Eng |
endoglin |
no_association |
ISO |
ClinVar Annotator: match by term: Hereditary hemorrhagic telangiectasia | ClinVar Annotator: match by term: Osler-Rendu-Weber disease ClinVar Annotator: match by term: Hereditary hemorrhagic telangiectasia | ClinVar Annotator: match by term: Osler hemorrhagic telangiectasia syndrome | ClinVar Annotator: match by term: Osler-Rendu-Weber disease |
RGD ClinVar |
PMID:7894484 PMID:8162075 PMID:8595426 PMID:9157574 PMID:9245986 PMID:9366572 PMID:9536098 PMID:9554745 PMID:10545596 PMID:10625079 PMID:10702408 PMID:10749981 PMID:10751092 PMID:10899246 PMID:10982033 PMID:11343967 PMID:11440987 PMID:11793473 PMID:12667943 PMID:12673790 PMID:12786761 PMID:12920067 PMID:13043988 PMID:14526373 PMID:14972453 PMID:15024723 PMID:15115879 PMID:15266205 PMID:15375013 PMID:15517393 PMID:15520401 PMID:15521985 PMID:15712270 PMID:15712271 PMID:15849752 PMID:15879500 PMID:15880681 PMID:15907823 PMID:15993872 PMID:16199547 PMID:16287957 PMID:16429404 PMID:16470589 PMID:16470787 PMID:16525724 PMID:16542389 PMID:16611099 PMID:16690726 PMID:16705692 PMID:16706966 PMID:16752392 PMID:16754821 PMID:17384219 PMID:17525106 PMID:17576210 PMID:17576681 PMID:17719943 PMID:17786384 PMID:18495117 PMID:18498373 PMID:18673552 PMID:19270816 PMID:19299629 PMID:19508727 PMID:19767588 PMID:20301525 PMID:20412114 PMID:20414677 PMID:20656886 PMID:20719417 PMID:20813596 PMID:20824275 PMID:21158752 PMID:21402931 PMID:21415079 PMID:21967607 PMID:21987708 PMID:22022569 PMID:22192717 PMID:22347366 PMID:22385575 PMID:22656258 PMID:22722545 PMID:22991266 PMID:23046070 PMID:23298310 PMID:23300529 PMID:23399955 PMID:23535011 PMID:23710379 PMID:23722869 PMID:23801935 PMID:23805858 PMID:23919827 PMID:24001356 PMID:24033266 PMID:24055113 PMID:24196379 PMID:24267784 PMID:24603890 PMID:24921008 PMID:25080347 PMID:25312062 PMID:25326635 PMID:25326637 PMID:25637381 PMID:25640679 PMID:25674101 PMID:25741868 PMID:25760803 PMID:25868896 PMID:25970827 PMID:26167679 PMID:26387786 PMID:26395556 PMID:26811476 PMID:26820968 PMID:27146957 PMID:27260700 PMID:27884767 PMID:28231770 PMID:28492532 PMID:28564608 PMID:28655553 PMID:28989145 PMID:29146883 PMID:29171923 PMID:29339534 PMID:29398197 PMID:29483005 PMID:29631995 PMID:29650961 PMID:29743074 PMID:30029678 PMID:30073140 PMID:30120215 PMID:30251589 PMID:30578383 PMID:30578397 PMID:30665703 PMID:30701124 PMID:30763665 PMID:30946035 PMID:31019283 PMID:31400083 PMID:31455059 PMID:31630786 PMID:31727138 PMID:32165824 PMID:32190976 PMID:32300199 PMID:32303606 PMID:32503579 PMID:32514857 PMID:32573726 PMID:32581362 PMID:32847536 PMID:32933640 PMID:33282178 PMID:33919892 PMID:34377910 PMID:34872578 PMID:34900561 PMID:35346192 More...
|
RGD:11041566 |
NCBI chrNW_004624760:7,703,979...7,735,636
Ensembl chrNW_004624760:7,703,820...7,734,457
|
|
G |
Pip5kl1 |
phosphatidylinositol-4-phosphate 5-kinase like 1 |
|
ISO |
ClinVar Annotator: match by term: Hereditary hemorrhagic telangiectasia |
ClinVar |
PMID:15879500 PMID:20414677 PMID:28492532 |
|
NCBI chrNW_004624760:7,642,551...7,650,321
Ensembl chrNW_004624760:7,642,577...7,651,083
|
|
G |
Rasa1 |
RAS p21 protein activator 1 |
|
ISO |
ClinVar Annotator: match by term: Osler hemorrhagic telangiectasia syndrome |
ClinVar |
PMID:18446851 PMID:24038909 PMID:25741868 PMID:28295764 PMID:28492532 PMID:29891884 More...
|
|
NCBI chrNW_004624743:6,750,476...6,882,556
Ensembl chrNW_004624743:6,788,108...6,882,223
|
|
G |
Smad4 |
SMAD family member 4 |
|
ISO |
ClinVar Annotator: match by term: Osler hemorrhagic telangiectasia syndrome |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chrNW_004624778:14,570,025...14,629,950
Ensembl chrNW_004624778:14,570,348...14,630,325
|
|
G |
St6galnac4 |
ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 4 |
|
ISO |
ClinVar Annotator: match by term: Hereditary hemorrhagic telangiectasia |
ClinVar |
PMID:15879500 PMID:20414677 PMID:28492532 |
|
NCBI chrNW_004624760:7,652,907...7,660,858
Ensembl chrNW_004624760:7,652,881...7,662,382
|
|
G |
St6galnac6 |
ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 6 |
|
ISO |
ClinVar Annotator: match by term: Hereditary hemorrhagic telangiectasia |
ClinVar |
PMID:15879500 PMID:20414677 PMID:28492532 |
|
NCBI chrNW_004624760:7,666,798...7,678,926
Ensembl chrNW_004624760:7,667,189...7,677,662
|
|
G |
Tnf |
tumor necrosis factor |
|
ISO |
protein:decreased expression:blood, lymphocyte |
RGD |
PMID:16611101 |
RGD:10450733 |
NCBI chrNW_004624754:24,623,059...24,625,647
Ensembl chrNW_004624754:24,623,425...24,625,531
|
|
|
G |
Acvrl1 |
activin A receptor like type 1 |
|
ISO |
ClinVar Annotator: match by term: Telangiectasia, hereditary hemorrhagic, type 1 |
ClinVar |
PMID:9536098 PMID:15024723 PMID:15065824 PMID:15517393 PMID:15712271 PMID:16282348 PMID:16429404 PMID:16470787 PMID:16540754 PMID:16705692 PMID:16861286 PMID:17219009 PMID:17384219 PMID:17576681 PMID:17786384 PMID:18673552 PMID:19767588 PMID:20414677 PMID:20501893 PMID:21158752 PMID:23722869 PMID:23919827 PMID:24196379 PMID:25741868 PMID:26176610 PMID:28492532 PMID:31220907 PMID:32300199 PMID:32503579 PMID:32573726 More...
|
|
NCBI chrNW_004624816:402,412...426,217
Ensembl chrNW_004624816:404,358...426,217
|
|
G |
Eng |
endoglin |
|
ISO |
ClinVar Annotator: match by term: ENG-related condition | ClinVar Annotator: match by term: Haemorrhagic telangiectasia 1 | ClinVar Annotator: match by term: Telangiectasia, hereditary hemorrhagic, type 1 |
OMIM ClinVar |
PMID:2601709 PMID:7894484 PMID:8162075 PMID:8595426 PMID:9245986 PMID:9366572 PMID:9536098 PMID:9554745 PMID:10545596 PMID:10625079 PMID:10702408 PMID:10749981 PMID:10982033 PMID:11343967 PMID:11440987 PMID:11793473 PMID:12667943 PMID:12673790 PMID:12786761 PMID:12920067 PMID:13043988 PMID:14526373 PMID:14684682 PMID:14972453 PMID:15024723 PMID:15266205 PMID:15375013 PMID:15517393 PMID:15521985 PMID:15712270 PMID:15712271 PMID:15849752 PMID:15879500 PMID:15880681 PMID:15907823 PMID:15993872 PMID:16164574 PMID:16199547 PMID:16287957 PMID:16429404 PMID:16470589 PMID:16470787 PMID:16525724 PMID:16542389 PMID:16611099 PMID:16690726 PMID:16705692 PMID:16752392 PMID:16754821 PMID:17384219 PMID:17525106 PMID:17576210 PMID:17576681 PMID:17719943 PMID:17786384 PMID:18495117 PMID:18498373 PMID:18607909 PMID:18673552 PMID:19270816 PMID:19299629 PMID:19508727 PMID:19767588 PMID:20301525 PMID:20412114 PMID:20414677 PMID:20656886 PMID:20719417 PMID:20813596 PMID:20824275 PMID:21158752 PMID:21415079 PMID:21967607 PMID:22022569 PMID:22192717 PMID:22347366 PMID:22385575 PMID:22656258 PMID:22991266 PMID:23298310 PMID:23300529 PMID:23399955 PMID:23535011 PMID:23710379 PMID:23722869 PMID:23801935 PMID:23805858 PMID:23919827 PMID:24001356 PMID:24033266 PMID:24055113 PMID:24196379 PMID:24267784 PMID:24603890 PMID:24921008 PMID:25080347 PMID:25312062 PMID:25326635 PMID:25326637 PMID:25637381 PMID:25674101 PMID:25741868 PMID:25970827 PMID:26167679 PMID:26811476 PMID:27146957 PMID:27884767 PMID:28231770 PMID:28492532 PMID:28564608 PMID:28655553 PMID:28989145 PMID:29171923 PMID:29398197 PMID:29483005 PMID:29650961 PMID:29743074 PMID:30029678 PMID:30073140 PMID:30251589 PMID:30374176 PMID:30665703 PMID:30701124 PMID:31019283 PMID:31400083 PMID:31455059 PMID:31630786 PMID:31727138 PMID:32165824 PMID:32300199 PMID:32303606 PMID:32503579 PMID:32514857 PMID:32573726 PMID:32581362 PMID:32907962 PMID:32933640 PMID:33919892 PMID:34008892 PMID:34377910 PMID:34872578 PMID:34900561 PMID:35346192 PMID:35628811 More...
|
|
NCBI chrNW_004624760:7,703,979...7,735,636
Ensembl chrNW_004624760:7,703,820...7,734,457
|
|
G |
Psen1 |
presenilin 1 |
|
ISO |
ClinVar Annotator: match by term: Telangiectasia, hereditary hemorrhagic, type 1 |
ClinVar |
PMID:25741868 PMID:29142009 PMID:30822634 PMID:32235595 |
|
NCBI chrNW_004624734:28,200,358...28,272,684
Ensembl chrNW_004624734:28,200,140...28,272,743
|
|
G |
Smad4 |
SMAD family member 4 |
|
ISO |
ClinVar Annotator: match by term: Telangiectasia, hereditary hemorrhagic, type 1 |
ClinVar |
PMID:25741868 |
|
NCBI chrNW_004624778:14,570,025...14,629,950
Ensembl chrNW_004624778:14,570,348...14,630,325
|
|
G |
Tgfb1 |
transforming growth factor beta 1 |
|
ISO |
protein:decreased expression:plasma: |
RGD |
PMID:15907823 |
RGD:11041166 |
NCBI chrNW_004624907:162,567...175,696
Ensembl chrNW_004624907:161,569...176,605
|
|
|
G |
Acvrl1 |
activin A receptor like type 1 |
|
ISO |
ClinVar Annotator: match by term: Lip telangiectasia | ClinVar Annotator: match by term: Telangiectasia, hereditary hemorrhagic, type 2 |
OMIM ClinVar |
PMID:6470589 PMID:8640225 PMID:9245985 PMID:9536098 PMID:10187774 PMID:10694922 PMID:10767348 PMID:10946360 PMID:11170071 PMID:11484689 PMID:11865300 PMID:12079393 PMID:12114496 PMID:12700602 PMID:12843319 PMID:14684682 PMID:15024723 PMID:15065824 PMID:15266205 PMID:15375013 PMID:15517393 PMID:15521985 PMID:15687131 PMID:15712270 PMID:15712271 PMID:15879500 PMID:15880681 PMID:15993872 PMID:16123970 PMID:16199547 PMID:16282348 PMID:16429404 PMID:16470589 PMID:16470787 PMID:16525724 PMID:16540754 PMID:16542389 PMID:16611099 PMID:16690726 PMID:16705692 PMID:16706966 PMID:16752392 PMID:16829353 PMID:16861286 PMID:17219009 PMID:17384219 PMID:17425869 PMID:17576681 PMID:17786384 PMID:18159113 PMID:18285823 PMID:18312453 PMID:18495117 PMID:18498373 PMID:18673552 PMID:19115559 PMID:19357124 PMID:19508727 PMID:19555857 PMID:19763152 PMID:19767588 PMID:20056902 PMID:20307669 PMID:20414677 PMID:20501893 PMID:20609011 PMID:21132305 PMID:21158752 PMID:21378382 PMID:21398687 PMID:21488239 PMID:21536610 PMID:21546842 PMID:22028876 PMID:22377182 PMID:22406018 PMID:22553411 PMID:22632830 PMID:22718755 PMID:22781769 PMID:22799562 PMID:22977237 PMID:22991266 PMID:23124896 PMID:23298310 PMID:23535011 PMID:23568730 PMID:23653583 PMID:23722869 PMID:23729109 PMID:23805858 PMID:23919827 PMID:24001356 PMID:24033266 PMID:24055113 PMID:24196379 PMID:24603890 PMID:24753439 PMID:25312062 PMID:25318803 PMID:25326635 PMID:25557927 PMID:25637381 PMID:25741868 PMID:25778885 PMID:25970827 PMID:26176610 PMID:26245826 PMID:26387786 PMID:26401274 PMID:26986070 PMID:27077548 PMID:27081284 PMID:27291782 PMID:27316748 PMID:27587546 PMID:27613157 PMID:27630060 PMID:27869117 PMID:28166811 PMID:28492532 PMID:28655553 PMID:28918311 PMID:29171923 PMID:29398197 PMID:29449337 PMID:29515340 PMID:29631995 PMID:29650961 PMID:29743074 PMID:29923633 PMID:30120215 PMID:30244195 PMID:30251589 PMID:30260738 PMID:30303062 PMID:30578383 PMID:30578397 PMID:31019026 PMID:31220907 PMID:31327192 PMID:31400083 PMID:31450639 PMID:31455059 PMID:31511490 PMID:31594285 PMID:31618753 PMID:31630786 PMID:31727138 PMID:31875044 PMID:32300199 PMID:32341592 PMID:32503579 PMID:32573726 PMID:32581362 PMID:32899377 PMID:33201366 PMID:33754658 PMID:33919892 PMID:34008892 PMID:34501220 PMID:34872578 PMID:34966542 PMID:35620871 PMID:35628811 PMID:36993588 More...
|
|
NCBI chrNW_004624816:402,412...426,217
Ensembl chrNW_004624816:404,358...426,217
|
|
G |
Eng |
endoglin |
|
ISO |
ClinVar Annotator: match by term: Oral cavity telangiectasia |
ClinVar |
PMID:25741868 |
|
NCBI chrNW_004624760:7,703,979...7,735,636
Ensembl chrNW_004624760:7,703,820...7,734,457
|
|
|
G |
Krit1 |
KRIT1 ankyrin repeat containing |
|
ISO |
ClinVar Annotator: match by term: Hyperkeratotic cutaneous capillary-venous malformations associated with cerebral capillary malformations |
ClinVar |
PMID:10814716 |
|
NCBI chrNW_004624809:978,391...1,036,313
Ensembl chrNW_004624809:978,789...1,039,091
|
|
|
G |
Smad4 |
SMAD family member 4 |
|
ISO |
ClinVar Annotator: match by term: JP/HHT SYNDROME | ClinVar Annotator: match by term: JUVENILE POLYPOSIS WITH HEREDITARY HEMORRHAGIC TELANGIECTASIA | ClinVar Annotator: match by term: Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome | ClinVar Annotator: match by term: TELANGIECTASIA, HEREDITARY HEMORRHAGIC, WITH JUVENILE POLYPOSIS COLI |
OMIM ClinVar |
PMID:6604412 PMID:8898652 PMID:9214508 PMID:9285566 PMID:9536098 PMID:9582123 PMID:9679244 PMID:9811934 PMID:10398437 PMID:10441006 PMID:10479724 PMID:10764709 PMID:10775259 PMID:10790223 PMID:10797267 PMID:11274206 PMID:11583957 PMID:11782434 PMID:11920286 PMID:11977156 PMID:12116240 PMID:12417513 PMID:12821112 PMID:14715079 PMID:15014009 PMID:15031030 PMID:15235019 PMID:15288293 PMID:15754356 PMID:15799969 PMID:16152648 PMID:16199547 PMID:16436638 PMID:16613914 PMID:17132729 PMID:17362581 PMID:17576681 PMID:17873119 PMID:17994767 PMID:18178612 PMID:18355998 PMID:18823382 PMID:20101697 PMID:20301642 PMID:21153778 PMID:21465659 PMID:21515830 PMID:21835029 PMID:21898662 PMID:22158539 PMID:22243968 PMID:22316667 PMID:22331366 PMID:22585601 PMID:22683461 PMID:22703879 PMID:22748914 PMID:22810475 PMID:22843233 PMID:22875147 PMID:23239472 PMID:23399955 PMID:23559152 PMID:24033266 PMID:24398790 PMID:24424121 PMID:24465802 PMID:24465805 PMID:24715504 PMID:24728327 PMID:24763289 PMID:24841914 PMID:24983367 PMID:25148578 PMID:25186627 PMID:25318351 PMID:25502805 PMID:25559809 PMID:25589618 PMID:25637381 PMID:25695693 PMID:25741868 PMID:25742471 PMID:25931195 PMID:25980754 PMID:26253951 PMID:26467025 PMID:26572829 PMID:26580448 PMID:26614708 PMID:26619011 PMID:26633542 PMID:26636501 PMID:26681312 PMID:26956206 PMID:27023170 PMID:27079212 PMID:27146957 PMID:27153395 PMID:27302097 PMID:27375208 PMID:27443514 PMID:27595937 PMID:27613157 PMID:27978560 PMID:28002797 PMID:28135145 PMID:28196074 PMID:28199989 PMID:28283864 PMID:28406602 PMID:28481359 PMID:28492532 PMID:28528518 PMID:28628100 PMID:28655553 PMID:28693246 PMID:28716708 PMID:28726808 PMID:28873162 PMID:28944238 PMID:29069792 PMID:29212164 PMID:29684080 PMID:29743074 PMID:30426508 PMID:30719162 PMID:30809044 PMID:30842500 PMID:30968316 PMID:31068090 PMID:31159747 PMID:31474762 PMID:31515488 PMID:31595668 PMID:31654632 PMID:31684910 PMID:31758407 PMID:31837202 PMID:32066632 PMID:32068069 PMID:32300199 PMID:32573726 PMID:32719554 PMID:32944796 PMID:32973888 PMID:33097490 PMID:33326750 PMID:33428109 PMID:33745841 PMID:33824467 PMID:34130653 PMID:34326862 PMID:35943490 PMID:36194927 PMID:36243179 More...
|
|
NCBI chrNW_004624778:14,570,025...14,629,950
Ensembl chrNW_004624778:14,570,348...14,630,325
|
|
|
G |
Stambp |
STAM binding protein |
|
ISO |
ClinVar Annotator: match by term: Microcephaly-capillary malformation syndrome | ClinVar Annotator: match by term: STAMBP-related condition |
OMIM ClinVar |
PMID:18414213 PMID:21271646 PMID:21815250 PMID:23542699 PMID:25326635 PMID:25741868 PMID:28492532 PMID:29907875 PMID:32929933 More...
|
|
NCBI chrNW_004624749:29,630,847...29,667,611
Ensembl chrNW_004624749:29,630,847...29,667,571
|
|
|
G |
Gja4 |
gap junction protein alpha 4 |
|
ISO |
ClinVar Annotator: match by term: Cutaneous venous malformation |
ClinVar |
PMID:33912852 |
|
NCBI chrNW_004624764:17,842,566...17,845,011
Ensembl chrNW_004624764:17,836,180...17,845,011
|
|
G |
Tek |
TEK receptor tyrosine kinase |
|
ISO |
ClinVar Annotator: match by term: Multiple cutaneous and mucosal venous malformations | ClinVar Annotator: match by term: Segmental undergrowth associated with venous malformation without capillary component |
OMIM ClinVar |
PMID:7783168 PMID:7833915 PMID:8415706 PMID:8980225 PMID:9926914 PMID:10369874 PMID:19888299 PMID:20301733 PMID:25326635 PMID:25741868 PMID:26319232 PMID:27270174 PMID:28492532 More...
|
|
NCBI chrNW_004624736:31,345,774...31,473,727
|
|
|
G |
Ahr |
aryl hydrocarbon receptor |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:36029422 |
|
NCBI chrNW_004624739:12,939,183...12,987,574
Ensembl chrNW_004624739:12,942,165...12,987,973
|
|
G |
LOC101722366 |
cytochrome P450 2E1 |
|
ISO |
|
RGD |
PMID:24924401 |
RGD:14700900 |
NCBI chrNW_004624737:12,335,733...12,345,278
Ensembl chrNW_004624737:12,335,681...12,345,514
|
|
|
G |
Elmo2 |
engulfment and cell motility 2 |
|
ISO |
ClinVar Annotator: match by term: Vascular malformation, primary intraosseous |
OMIM ClinVar |
PMID:11932989 PMID:25741868 PMID:27476657 PMID:28492532 |
|
NCBI chrNW_004624790:8,228,234...8,266,585
Ensembl chrNW_004624790:8,228,259...8,267,179
|
|
|
G |
Arhgap5 |
Rho GTPase activating protein 5 |
|
ISO |
ClinVar Annotator: match by term: Pulmonary artery atresia |
ClinVar |
|
|
NCBI chrNW_004624820:302,000...381,043
Ensembl chrNW_004624820:305,475...381,058
|
|
G |
Bclaf1 |
BCL2 associated transcription factor 1 |
|
ISO |
ClinVar Annotator: match by term: Pulmonary artery atresia |
ClinVar |
|
|
NCBI chrNW_004624886:1,394,556...1,424,294
Ensembl chrNW_004624886:1,394,588...1,424,778
|
|
G |
Cdc27 |
cell division cycle 27 |
|
ISO |
ClinVar Annotator: match by term: Pulmonary artery atresia |
ClinVar |
|
|
NCBI chrNW_004624849:2,026,433...2,105,626
Ensembl chrNW_004624849:2,026,425...2,092,857
|
|
G |
Cnn2 |
calponin 2 |
|
ISO |
ClinVar Annotator: match by term: Pulmonary artery atresia |
ClinVar |
|
|
NCBI chrNW_004624828:7,594,995...7,601,639
Ensembl chrNW_004624828:7,593,116...7,601,680
|
|
G |
Ctbp2 |
C-terminal binding protein 2 |
|
ISO |
ClinVar Annotator: match by term: Pulmonary artery atresia |
ClinVar |
PMID:25741868 |
|
NCBI chrNW_004624737:22,135,046...22,166,580
Ensembl chrNW_004624737:22,003,871...22,165,257
|
|
G |
Frg1 |
FSHD region gene 1 |
|
ISO |
ClinVar Annotator: match by term: Pulmonary artery atresia |
ClinVar |
|
|
NCBI chrNW_004624769:21,068,817...21,088,723
Ensembl chrNW_004624769:21,068,814...21,088,728
|
|
G |
Gata4 |
GATA binding protein 4 |
|
ISO |
ClinVar Annotator: match by term: Pulmonary valve atresia |
ClinVar |
PMID:18055909 PMID:20981092 PMID:25741868 PMID:27535533 PMID:28492532 |
|
NCBI chrNW_004624758:25,278,878...25,319,317
Ensembl chrNW_004624758:25,278,874...25,319,318
|
|
G |
Nodal |
nodal growth differentiation factor |
susceptibility |
ISO |
DNA:mutations |
RGD |
PMID:19064609 |
RGD:11568370 |
NCBI chrNW_004624754:4,557,407...4,564,580
Ensembl chrNW_004624754:4,557,952...4,564,644
|
|
G |
Nup153 |
nucleoporin 153 |
|
ISO |
ClinVar Annotator: match by term: Pulmonary artery atresia |
ClinVar |
|
|
NCBI chrNW_004624756:8,890,010...8,959,704
Ensembl chrNW_004624756:8,889,992...8,959,115
|
|
G |
Pabpc1 |
poly(A) binding protein cytoplasmic 1 |
|
ISO |
ClinVar Annotator: match by term: Pulmonary artery atresia |
ClinVar |
|
|
NCBI chrNW_004624763:7,552,541...7,568,047
Ensembl chrNW_004624763:7,550,307...7,567,918
|
|
G |
Sdha |
succinate dehydrogenase complex flavoprotein subunit A |
|
ISO |
ClinVar Annotator: match by term: Pulmonary artery atresia |
ClinVar |
PMID:25741868 |
|
NCBI chrNW_004624751:54,778...90,457
Ensembl chrNW_004624751:54,779...90,447
|
|
|
G |
Tpm1 |
tropomyosin 1 |
|
ISO |
ClinVar Annotator: match by term: Pulmonary atresia with intact ventricular septum |
ClinVar |
PMID:28359939 |
|
NCBI chrNW_004624781:9,414,500...9,442,357
Ensembl chrNW_004624781:9,414,500...9,442,544
|
|
|
G |
Foxp1 |
forkhead box P1 |
|
ISO |
ClinVar Annotator: match by term: Pulmonary atresia with ventricular septal defect |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chrNW_004624773:5,543,529...6,076,522
Ensembl chrNW_004624773:5,543,536...5,883,131
|
|
|
G |
Col4a1 |
collagen type IV alpha 1 chain |
|
ISO |
ClinVar Annotator: match by term: Retinal arterial tortuosity | ClinVar Annotator: match by term: Retinal arteries, tortuosity of |
ClinVar OMIM |
PMID:3691802 PMID:7695699 PMID:8218237 PMID:9016532 PMID:9536098 PMID:9724608 PMID:16199547 PMID:17078022 PMID:17576681 PMID:19344236 PMID:20818663 PMID:22574627 PMID:22914737 PMID:23225343 PMID:24374867 PMID:24628545 PMID:25228067 PMID:25457163 PMID:25741868 PMID:26310487 PMID:26467025 PMID:28492532 PMID:29770612 PMID:30653986 PMID:31051113 PMID:31069529 PMID:31230195 PMID:31719132 PMID:33353976 PMID:33527515 PMID:35711275 More...
|
|
NCBI chrNW_004624793:2,325,104...2,426,814
Ensembl chrNW_004624793:2,325,128...2,426,817
|
|
G |
Kat6b |
lysine acetyltransferase 6B |
|
ISO |
ClinVar Annotator: match by term: Retinal arterial tortuosity |
ClinVar |
PMID:25741868 |
|
NCBI chrNW_004624754:8,204,266...8,391,328
Ensembl chrNW_004624754:8,204,943...8,392,724
|
|
|
G |
Acbd5 |
acyl-CoA binding domain containing 5 |
|
ISO |
ClinVar Annotator: match by term: Scimitar anomaly, multiple cardiac malformations, and craniofacial and central nervous system abnormalities |
ClinVar |
PMID:25741868 |
|
NCBI chrNW_004624796:2,261,009...2,297,982
|
|
G |
Mastl |
microtubule associated serine/threonine kinase like |
|
ISO |
ClinVar Annotator: match by term: Scimitar anomaly, multiple cardiac malformations, and craniofacial and central nervous system abnormalities |
ClinVar |
PMID:25741868 |
|
NCBI chrNW_004624796:2,215,951...2,244,307
Ensembl chrNW_004624796:2,216,034...2,243,962
|
|
|
G |
Ankrd1 |
ankyrin repeat domain 1 |
|
ISO |
ClinVar Annotator: match by term: TOTAL ANOMALOUS PULMONARY VENOUS RETURN 1 | ClinVar Annotator: match by term: Total anomalous pulmonary venous return |
ClinVar |
PMID:19525294 PMID:19608031 PMID:23299917 PMID:23861362 PMID:24033266 PMID:25741868 PMID:28492532 More...
|
|
NCBI chrNW_004624737:2,127,253...2,136,181
Ensembl chrNW_004624737:2,127,267...2,136,347
|
|
G |
Bmp7 |
bone morphogenetic protein 7 |
|
ISO |
ClinVar Annotator: match by term: Total anomalous pulmonary venous return |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chrNW_004624741:23,658,214...23,743,227
Ensembl chrNW_004624741:23,658,004...23,737,742
|
|
G |
Ift88 |
intraflagellar transport 88 |
|
ISO |
OMIM:106700 |
MouseDO |
|
|
NCBI chrNW_004624776:16,954,368...17,086,377
Ensembl chrNW_004624776:16,954,507...17,086,337
|
|
G |
Myrf |
myelin regulatory factor |
|
ISO |
ClinVar Annotator: match by term: Scimitar syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chrNW_004624926:615,991...636,167
Ensembl chrNW_004624926:617,303...636,080
|
|
G |
Pdgfra |
platelet derived growth factor receptor alpha |
|
ISO |
OMIM:106700 |
MouseDO |
|
|
NCBI chrNW_004624761:15,223,789...15,269,685
Ensembl chrNW_004624761:15,225,356...15,269,810
|
|
G |
Smad2 |
SMAD family member 2 |
|
ISO |
ClinVar Annotator: match by term: Anomalous pulmonary venous return |
ClinVar |
|
|
NCBI chrNW_004624778:11,380,656...11,460,566
Ensembl chrNW_004624778:11,384,769...11,501,078
|
|
|
G |
Cldn14 |
claudin 14 |
|
ISO |
ClinVar Annotator: match by term: Galen vein aneurysm |
ClinVar |
PMID:23991001 PMID:24033266 PMID:25741868 PMID:28492532 PMID:30578106 |
|
NCBI chrNW_004624745:27,058,441...27,074,288
Ensembl chrNW_004624745:27,058,911...27,074,282
|
|
G |
Ephb4 |
EPH receptor B4 |
|
ISO |
ClinVar Annotator: match by term: Galen vein aneurysm |
ClinVar |
PMID:30578106 |
|
NCBI chrNW_004624740:16,320,672...16,339,454
Ensembl chrNW_004624740:16,320,697...16,339,777
|
|
G |
Kat6a |
lysine acetyltransferase 6A |
|
ISO |
ClinVar Annotator: match by term: Galen vein aneurysm |
ClinVar |
PMID:30578106 |
|
NCBI chrNW_004624780:1,237,326...1,378,718
Ensembl chrNW_004624780:1,240,292...1,376,072
|
|
G |
Kel |
Kell metallo-endopeptidase (Kell blood group) |
|
ISO |
ClinVar Annotator: match by term: Galen vein aneurysm |
ClinVar |
PMID:30578106 |
|
NCBI chrNW_004624800:11,871,226...11,892,584
Ensembl chrNW_004624800:11,870,759...11,894,190
|
|
G |
Kmt2d |
lysine methyltransferase 2D |
|
ISO |
ClinVar Annotator: match by term: Galen vein aneurysm |
ClinVar |
PMID:28492532 PMID:30578106 |
|
NCBI chrNW_004624816:3,129,127...3,169,143
Ensembl chrNW_004624816:3,133,659...3,166,346
|
|
G |
Smarca2 |
SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2 |
|
ISO |
ClinVar Annotator: match by term: Galen vein aneurysm |
ClinVar |
PMID:30578106 |
|
NCBI chrNW_004624736:6,681,491...6,863,403
Ensembl chrNW_004624736:6,695,658...6,865,809
|
|