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G |
GLA |
galactosidase alpha |
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EXP |
CTD Direct Evidence: therapeutic |
CTD |
PMID:19925601 |
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NCBI chr X:101,397,803...101,407,925
Ensembl chr X:101,393,273...101,408,012
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G |
NAGA |
alpha-N-acetylgalactosaminidase |
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IAGP |
Kanzaki Disease, OMIM:609242, DNA:point mutation:exon:R329W |
RGD |
PMID:8040340 |
RGD:1600558 |
NCBI chr22:42,058,334...42,070,842
Ensembl chr22:42,058,334...42,070,842
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G |
ANKIB1 |
ankyrin repeat and IBR domain containing 1 |
|
IAGP |
ClinVar Annotator: match by term: Angiokeratoma corporis diffusum with arteriovenous fistulas |
ClinVar |
PMID:25741868 |
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NCBI chr 7:92,245,974...92,401,383
Ensembl chr 7:92,245,974...92,401,383
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G |
KRIT1 |
KRIT1 ankyrin repeat containing |
|
IAGP |
ClinVar Annotator: match by term: Angiokeratoma corporis diffusum with arteriovenous fistulas |
ClinVar |
PMID:20419355 PMID:25525273 PMID:25741868 PMID:26467025 PMID:28492532 |
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NCBI chr 7:92,198,969...92,246,100
Ensembl chr 7:92,197,498...92,246,166
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G |
LOC113748416 |
Sharpr-MPRA regulatory region 5961 |
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IAGP |
ClinVar Annotator: match by term: Angiokeratoma corporis diffusum with arteriovenous fistulas |
ClinVar |
PMID:25741868 |
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NCBI chr 7:92,245,795...92,246,409
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G |
ACE |
angiotensin I converting enzyme |
treatment |
ISO |
protein:increased activity:heart left ventricle (rat) |
RGD |
PMID:22768235 PMID:8386093 |
RGD:12859285, RGD:12880017 |
NCBI chr17:63,477,061...63,498,373
Ensembl chr17:63,477,061...63,498,380
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G |
ACKR1 |
atypical chemokine receptor 1 (Duffy blood group) |
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ISO |
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RGD |
PMID:24429330 |
RGD:9681736 |
NCBI chr 1:159,204,875...159,206,500
Ensembl chr 1:159,204,875...159,206,500
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G |
ANGPT2 |
angiopoietin 2 |
|
ISO |
mRNA:increased expression:lung (rat) |
RGD |
PMID:18692629 |
RGD:2314184 |
NCBI chr 8:6,499,632...6,563,245
Ensembl chr 8:6,499,632...6,563,409
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G |
ARRB1 |
arrestin beta 1 |
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ISO |
mRNA, protein:altered expression:left ventricle (rat) |
RGD |
PMID:22015551 |
RGD:5509867 |
NCBI chr11:75,260,122...75,351,661
Ensembl chr11:75,260,122...75,351,705
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G |
ARRB2 |
arrestin beta 2 |
|
ISO |
mRNA, protein:altered expression:left ventricle (rat) |
RGD |
PMID:22015551 |
RGD:5509867 |
NCBI chr17:4,710,632...4,721,497
Ensembl chr17:4,710,596...4,721,499
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G |
COL1A1 |
collagen type I alpha 1 chain |
|
ISO |
in Long Evans rats;mRNA:increased expression:aorta |
RGD |
PMID:16428894 |
RGD:8552771 |
NCBI chr17:50,184,101...50,201,631
Ensembl chr17:50,184,101...50,201,632
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G |
DES |
desmin |
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ISO |
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RGD |
PMID:10591032 |
RGD:13525010 |
NCBI chr 2:219,418,377...219,426,734
Ensembl chr 2:219,418,377...219,426,735
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G |
FGF2 |
fibroblast growth factor 2 |
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IEP |
|
RGD |
PMID:10541235 |
RGD:8655590 |
NCBI chr 4:122,826,682...122,898,236
Ensembl chr 4:122,826,682...122,898,236
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G |
MMP2 |
matrix metallopeptidase 2 |
treatment |
ISO |
protein:increased expression:ileal vein |
RGD |
PMID:17398390 PMID:23924957 |
RGD:1642040, RGD:13204800 |
NCBI chr16:55,478,830...55,506,691
Ensembl chr16:55,389,700...55,506,691
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G |
MMP9 |
matrix metallopeptidase 9 |
treatment |
ISO |
|
RGD |
PMID:17398390 PMID:23924957 |
RGD:1642040, RGD:13204800 |
NCBI chr20:46,008,908...46,016,561
Ensembl chr20:46,008,908...46,016,561
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G |
NOS3 |
nitric oxide synthase 3 |
|
ISO |
protein:increased expression:vena cava |
RGD |
PMID:17344190 |
RGD:2292146 |
NCBI chr 7:150,991,017...151,014,588
Ensembl chr 7:150,991,017...151,014,588
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G |
RBP4 |
retinol binding protein 4 |
exacerbates |
IEP |
protein:increased expression:blood serum (human) |
RGD |
PMID:33556944 |
RGD:329845868 |
NCBI chr10:93,591,694...93,601,744
Ensembl chr10:93,591,687...93,601,744
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G |
TIMP4 |
TIMP metallopeptidase inhibitor 4 |
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ISO |
protein:decreased expression:ileal vein |
RGD |
PMID:17398390 |
RGD:1642040 |
NCBI chr 3:12,153,068...12,158,912
Ensembl chr 3:12,153,068...12,158,912
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G |
VEGFA |
vascular endothelial growth factor A |
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ISO IEP |
protein:increased expression:brain cortex, brain dura mater: |
RGD |
PMID:24626343 PMID:10541235 |
RGD:8551823, RGD:8655590 |
NCBI chr 6:43,770,211...43,786,487
Ensembl chr 6:43,770,184...43,786,487
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G |
ACVRL1 |
activin A receptor like type 1 |
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ISO |
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RGD |
PMID:11062473 |
RGD:1300250 |
NCBI chr12:51,906,944...51,923,361
Ensembl chr12:51,906,908...51,923,361
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G |
ENG |
endoglin |
susceptibility |
IAGP ISO |
associated with Telangiectasia, Hereditary Hemorrhagic; |
RGD |
PMID:8728706 PMID:24520391 |
RGD:11041184, RGD:11041564 |
NCBI chr 9:127,815,016...127,854,658
Ensembl chr 9:127,811,130...127,854,773
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G |
EPHB4 |
EPH receptor B4 |
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IAGP |
ClinVar Annotator: match by term: Arteriovenous malformation |
ClinVar |
PMID:25741868 PMID:28687708 PMID:30578106 PMID:30760892 |
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NCBI chr 7:100,802,565...100,827,523
Ensembl chr 7:100,802,565...100,827,523
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G |
GLMN |
glomulin, FKBP associated protein |
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IAGP |
glomuvenous malformations |
RGD |
PMID:11845407 |
RGD:1598992 |
NCBI chr 1:92,246,402...92,370,844
Ensembl chr 1:92,246,402...92,298,987
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G |
LOC126860124 |
CDK7 strongly-dependent group 2 enhancer GRCh37_chr7:100403701-100404900 |
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IAGP |
ClinVar Annotator: match by term: Arteriovenous malformation |
ClinVar |
PMID:25741868 PMID:28687708 PMID:30578106 PMID:30760892 |
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NCBI chr 7:100,805,443...100,807,278
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G |
MAP2 |
microtubule associated protein 2 |
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ISO |
protein:decreased expression:hippocampus |
RGD |
PMID:20873448 |
RGD:6483324 |
NCBI chr 2:209,424,047...209,734,112
Ensembl chr 2:209,424,047...209,734,147
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G |
MIR10A |
microRNA 10a |
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IEP |
miRNA:decreased expression:blood plasma (human) |
RGD |
PMID:23051042 |
RGD:155582214 |
NCBI chr17:48,579,838...48,579,947
Ensembl chr17:48,579,838...48,579,947
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G |
MIR193A |
microRNA 193a |
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IEP |
miRNA:decreased expression:blood plasma (human) |
RGD |
PMID:23051042 |
RGD:155582214 |
NCBI chr17:31,559,996...31,560,083
Ensembl chr17:31,559,996...31,560,083
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G |
MIR210 |
microRNA 210 |
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IEP |
associated with hereditary hemorrhagic telangiectasia; miRNA:increased expression:blood plasma (human) |
RGD |
PMID:23051042 |
RGD:155582214 |
NCBI chr11:568,089...568,198
Ensembl chr11:568,089...568,198
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G |
MIR214 |
microRNA 214 |
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IEP |
miRNA:increased expression:blood plasma (human) |
RGD |
PMID:23051042 |
RGD:155582214 |
NCBI chr 1:172,138,798...172,138,907
Ensembl chr 1:172,138,798...172,138,907
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G |
MIR34A |
microRNA 34a |
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IEP |
miRNA:increased expression:blood plasma (human) |
RGD |
PMID:23051042 |
RGD:155582214 |
NCBI chr 1:9,151,668...9,151,777
Ensembl chr 1:9,151,668...9,151,777
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G |
MIR486-1 |
microRNA 486-1 |
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IEP |
miRNA:increased expression:blood plasma (human) |
RGD |
PMID:23051042 |
RGD:155582214 |
NCBI chr 8:41,660,441...41,660,508
Ensembl chr 8:41,660,441...41,660,508
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G |
MMP9 |
matrix metallopeptidase 9 |
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IEP |
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RGD |
PMID:16720380 |
RGD:1582655 |
NCBI chr20:46,008,908...46,016,561
Ensembl chr20:46,008,908...46,016,561
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G |
PIK3CA |
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha |
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IAGP |
ClinVar Annotator: match by term: Arteriovenous malformation |
ClinVar |
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NCBI chr 3:179,148,126...179,240,093
Ensembl chr 3:179,148,114...179,240,093
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G |
RASA1 |
RAS p21 protein activator 1 |
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IAGP EXP |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:14639529 PMID:15917201 |
RGD:1581296 |
NCBI chr 5:87,267,883...87,391,916
Ensembl chr 5:87,267,883...87,391,931
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G |
TEK |
TEK receptor tyrosine kinase |
susceptibility |
IAGP |
DNA:missense mutation: :p.R849W |
RGD |
PMID:8980225 |
RGD:1578533 |
NCBI chr 9:27,109,225...27,230,174
Ensembl chr 9:27,109,141...27,230,174
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G |
ACVRL1 |
activin A receptor like type 1 |
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ISS |
OMIM:108010 |
MouseDO |
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NCBI chr12:51,906,944...51,923,361
Ensembl chr12:51,906,908...51,923,361
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G |
ADGRV1 |
adhesion G protein-coupled receptor V1 |
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IAGP |
ClinVar Annotator: match by term: Cerebral arteriovenous malformation |
ClinVar |
PMID:25741868 |
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NCBI chr 5:90,558,797...91,164,437
Ensembl chr 5:90,529,344...91,164,437
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G |
BRAF |
B-Raf proto-oncogene, serine/threonine kinase |
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IAGP |
ClinVar Annotator: match by term: Cerebral arteriovenous malformation ClinVar Annotator: match by term: Arteriovenous malformations of the brain |
ClinVar |
PMID:12068308 PMID:12198537 PMID:12447372 PMID:12460918 PMID:12460919 PMID:12619120 PMID:12644542 PMID:12670889 PMID:12794760 PMID:12960123 PMID:14513361 PMID:14602780 PMID:14679157 PMID:15001635 PMID:15035987 PMID:15126572 PMID:15181070 PMID:15342696 PMID:15356022 PMID:15386408 PMID:15687339 PMID:15998781 PMID:16015629 PMID:16174717 PMID:16187918 PMID:16772349 PMID:17374713 PMID:17488796 PMID:17785355 PMID:18398503 PMID:19001320 PMID:19010912 PMID:19018267 PMID:19238210 PMID:19404918 PMID:19537845 PMID:19561230 PMID: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...
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NCBI chr 7:140,713,328...140,924,929
Ensembl chr 7:140,719,327...140,924,929
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G |
CACNA1H |
calcium voltage-gated channel subunit alpha1 H |
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IAGP |
ClinVar Annotator: match by term: Cerebral arteriovenous malformation |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr16:1,153,106...1,221,768
Ensembl chr16:1,153,103...1,224,169
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G |
CDH2 |
cadherin 2 |
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IAGP |
ClinVar Annotator: match by term: Cerebral arteriovenous malformation |
ClinVar |
PMID:25741868 |
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NCBI chr18:27,932,879...28,177,130
Ensembl chr18:27,932,879...28,177,946
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G |
EGFR |
epidermal growth factor receptor |
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IAGP |
ClinVar Annotator: match by term: Cerebral arteriovenous malformation |
ClinVar |
PMID:25741868 |
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NCBI chr 7:55,019,017...55,211,628
Ensembl chr 7:55,019,017...55,211,628
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G |
ENG |
endoglin |
disease_progression |
IAGP ISS ISO |
ClinVar Annotator: match by term: Cerebral arteriovenous malformation OMIM:108010 DNA:polymorphism: : 207G>A(human) |
ClinVar MouseDO RGD |
PMID:15879500 PMID:25741868 PMID:28492532 PMID:30120215 PMID:16179574 PMID:24520391 PMID:24876084 More...
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RGD:1580962, RGD:11041564, RGD:11041171 |
NCBI chr 9:127,815,016...127,854,658
Ensembl chr 9:127,811,130...127,854,773
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G |
FLT1 |
fms related receptor tyrosine kinase 1 |
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IEP |
protein:increased expression:endothelial cell: |
RGD |
PMID:11220380 |
RGD:8551824 |
NCBI chr13:28,300,346...28,495,128
Ensembl chr13:28,300,346...28,495,145
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G |
GLI2 |
GLI family zinc finger 2 |
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IAGP |
ClinVar Annotator: match by term: Arteriovenous malformations of the brain |
ClinVar |
PMID:25741868 |
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NCBI chr 2:120,735,868...120,992,653
Ensembl chr 2:120,735,623...120,992,653
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G |
IL17RD |
interleukin 17 receptor D |
|
IAGP |
ClinVar Annotator: match by term: Cerebral arteriovenous malformation |
ClinVar |
PMID:25636053 PMID:25741868 PMID:28492532 PMID:32389901 |
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NCBI chr 3:57,089,982...57,170,317
Ensembl chr 3:57,089,982...57,170,306
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G |
IL6 |
interleukin 6 |
susceptibility |
EXP IAGP |
CTD Direct Evidence: marker/mechanism |
CTD OMIM |
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NCBI chr 7:22,727,200...22,731,998
Ensembl chr 7:22,725,884...22,732,002
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G |
KDR |
kinase insert domain receptor |
|
IEP |
protein:increased expression:endothelial cell: |
RGD |
PMID:11220380 |
RGD:8551824 |
NCBI chr 4:55,078,481...55,125,595
Ensembl chr 4:55,078,481...55,125,595
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G |
KRAS |
KRAS proto-oncogene, GTPase |
|
IAGP ISS EXP |
ClinVar Annotator: match by term: Arteriovenous malformations of the brain OMIM:108010 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar MouseDO CTD |
PMID:2278970 PMID:3122217 PMID:7773929 PMID:8439212 PMID:12110640 PMID:12460918 PMID:12720172 PMID:14982869 PMID:15093544 PMID:15696205 PMID:15842656 PMID:16361624 PMID:16434492 PMID:16474404 PMID:16474405 PMID:16618717 PMID:16773572 PMID:17056636 PMID:17324647 PMID:17332249 PMID:17384584 PMID:17409930 PMID:17551339 PMID:17704260 PMID:17875937 PMID:17910045 PMID:18316791 PMID:18456719 PMID:18628094 PMID:18794081 PMID:19018267 PMID:19029981 PMID:19047918 PMID:19075190 PMID:19114683 PMID:19255327 PMID:19349489 PMID:19358724 PMID:19679400 PMID:19773371 PMID:19881948 PMID:20609353 PMID:20652921 PMID:20805368 PMID:20921462 PMID:20921465 PMID:20949522 PMID:20949621 PMID:21044336 PMID:21062266 PMID:21079152 PMID:21169357 PMID:21228335 PMID:21398618 PMID:21871821 PMID:21975775 PMID:22025163 PMID:22235099 PMID:22407852 PMID:22499344 PMID:22683711 PMID:22722830 PMID:22897852 PMID:23014527 PMID:23096712 PMID:23255105 PMID:23325582 PMID:23406027 PMID:24033266 PMID:24138715 PMID:24703799 PMID:24803665 PMID:25044103 PMID:25157968 PMID:25326637 PMID:25695684 PMID:25741868 PMID:26242988 PMID:26372703 PMID:26619011 PMID:28492532 PMID:29298116 PMID:29948256 PMID:30443000 PMID:31891627 PMID:35794233 More...
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NCBI chr12:25,205,246...25,250,929
Ensembl chr12:25,205,246...25,250,936
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G |
LEMD3 |
LEM domain containing 3 |
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IAGP |
ClinVar Annotator: match by term: Cerebral arteriovenous malformation |
ClinVar |
PMID:25741868 |
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NCBI chr12:65,169,583...65,248,355
Ensembl chr12:65,169,583...65,248,355
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G |
MAP4K4 |
mitogen-activated protein kinase kinase kinase kinase 4 |
|
IAGP |
ClinVar Annotator: match by term: Cerebral arteriovenous malformation |
ClinVar |
PMID:25741868 |
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NCBI chr 2:101,697,707...101,894,690
Ensembl chr 2:101,696,850...101,894,690
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G |
NLRP3 |
NLR family pyrin domain containing 3 |
|
IAGP |
ClinVar Annotator: match by term: Cerebral arteriovenous malformation |
ClinVar |
|
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NCBI chr 1:247,416,077...247,448,817
Ensembl chr 1:247,332,331...247,449,108
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G |
NOTCH4 |
notch receptor 4 |
|
ISO ISS IAGP |
OMIM:108010 ClinVar Annotator: match by term: Cerebral arteriovenous malformation |
MouseDO ClinVar RGD |
PMID:25741868 PMID:27231971 PMID:19546852 |
RGD:6480671 |
NCBI chr 6:32,194,843...32,224,067
Ensembl chr 6:32,194,843...32,224,067
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G |
NRIP3-DT |
NRIP3 divergent transcript |
|
IAGP |
ClinVar Annotator: match by term: Cerebral arteriovenous malformation |
ClinVar |
PMID:25741868 |
|
NCBI chr11:9,004,088...9,067,791
Ensembl chr11:9,004,093...9,067,776
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G |
PDCD10 |
programmed cell death 10 |
|
IAGP |
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...
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NCBI chr 3:167,683,298...167,734,892
Ensembl chr 3:167,683,298...167,734,939
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G |
PITPNM3 |
PITPNM family member 3 |
|
IAGP |
ClinVar Annotator: match by term: Cerebral arteriovenous malformation |
ClinVar |
PMID:25741868 |
|
NCBI chr17:6,451,263...6,556,555
Ensembl chr17:6,451,263...6,556,555
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G |
PREX2 |
phosphatidylinositol-3,4,5-trisphosphate dependent Rac exchange factor 2 |
|
IAGP |
ClinVar Annotator: match by term: Cerebral arteriovenous malformation |
ClinVar |
PMID:25741868 |
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NCBI chr 8:67,952,046...68,237,032
Ensembl chr 8:67,952,046...68,237,032
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G |
SARS1 |
seryl-tRNA synthetase 1 |
|
IAGP |
ClinVar Annotator: match by term: Cerebral arteriovenous malformation |
ClinVar |
PMID:25741868 |
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NCBI chr 1:109,213,893...109,238,182
Ensembl chr 1:109,213,918...109,238,182
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G |
SCUBE2 |
signal peptide, CUB domain and EGF like domain containing 2 |
|
IAGP |
ClinVar Annotator: match by term: Cerebral arteriovenous malformation |
ClinVar |
PMID:25741868 |
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NCBI chr11:9,019,476...9,091,599
Ensembl chr11:9,019,476...9,138,114
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G |
SYN3 |
synapsin III |
|
IAGP |
ClinVar Annotator: match by term: Cerebral arteriovenous malformation |
ClinVar |
PMID:25741868 |
|
NCBI chr22:32,507,820...33,058,381
Ensembl chr22:32,507,820...33,058,381
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G |
TIMP3 |
TIMP metallopeptidase inhibitor 3 |
|
IAGP |
ClinVar Annotator: match by term: Cerebral arteriovenous malformation |
ClinVar |
PMID:25741868 |
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NCBI chr22:32,801,705...32,863,041
Ensembl chr22:32,801,705...32,863,041
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G |
VEGFA |
vascular endothelial growth factor A |
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IEP |
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RGD |
PMID:16388189 |
RGD:1580567 |
NCBI chr 6:43,770,211...43,786,487
Ensembl chr 6:43,770,184...43,786,487
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G |
ZFYVE16 |
zinc finger FYVE-type containing 16 |
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IAGP |
ClinVar Annotator: match by term: Cerebral arteriovenous malformation |
ClinVar |
PMID:25741868 |
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NCBI chr 5:80,407,610...80,483,379
Ensembl chr 5:80,408,013...80,483,379
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G |
EGFR |
epidermal growth factor receptor |
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IAGP |
ClinVar Annotator: match by term: Cowden syndrome 1 |
ClinVar |
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NCBI chr 7:55,019,017...55,211,628
Ensembl chr 7:55,019,017...55,211,628
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G |
KLLN |
killin, p53 regulated DNA replication inhibitor |
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IAGP |
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...
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NCBI chr10:87,859,158...87,863,533
Ensembl chr10:87,859,158...87,863,533
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G |
LOC130004273 |
ATAC-STARR-seq lymphoblastoid silent region 2585 |
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IAGP |
ClinVar Annotator: match by term: Cowden syndrome 1 ClinVar Annotator: match by term: Bannayan-Riley-Ruvalcaba syndrome |
ClinVar |
PMID:2338203 PMID:9467011 PMID:12844284 PMID:12938083 PMID:16773562 PMID:17427195 PMID:17847000 PMID:21194675 PMID:21417916 PMID:21956414 PMID:23825907 PMID:24033266 PMID:24778394 PMID:25669429 PMID:25741868 PMID:25910213 PMID:26229595 PMID:26467025 PMID:27535533 PMID:27878467 PMID:27884173 PMID:28492532 More...
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NCBI chr10:87,863,380...87,863,689
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G |
PIK3CA |
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha |
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IAGP |
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...
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NCBI chr 3:179,148,126...179,240,093
Ensembl chr 3:179,148,114...179,240,093
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G |
PTEN |
phosphatase and tensin homolog |
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IAGP ISS |
ClinVar Annotator: match by term: Cowden syndrome 1 ClinVar Annotator: match by term: Bannayan-Riley-Ruvalcaba syndrome | ClinVar Annotator: match by term: Cowden syndrome 1 OMIM:158350 |
ClinVar OMIM MouseDO |
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...
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NCBI chr10:87,863,625...87,971,930
Ensembl chr10:87,862,638...87,971,930
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G |
SDHB |
succinate dehydrogenase complex iron sulfur subunit B |
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IAGP |
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...
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NCBI chr 1:17,018,722...17,054,032
Ensembl chr 1:17,018,664...17,054,151
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G |
AKT3 |
AKT serine/threonine kinase 3 |
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IAGP |
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...
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NCBI chr 1:243,488,233...243,851,079
Ensembl chr 1:243,488,233...243,851,079
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G |
CCN1 |
cellular communication network factor 1 |
disease_progression |
IEP |
mRNA:increased expression:skin (human) |
RGD |
PMID:33587560 |
RGD:329845523 |
NCBI chr 1:85,580,761...85,583,950
Ensembl chr 1:85,580,761...85,584,589
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G |
NPC1 |
NPC intracellular cholesterol transporter 1 |
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IAGP |
ClinVar Annotator: match by term: Capillary hemangioma |
ClinVar |
PMID:25741868 |
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NCBI chr18:23,506,184...23,586,506
Ensembl chr18:23,506,184...23,586,506
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G |
CCNH |
cyclin H |
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IAGP |
ClinVar Annotator: match by term: Capillary malformation-arteriovenous malformation syndrome 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...
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NCBI chr 5:87,311,471...87,412,930
Ensembl chr 5:87,318,416...87,413,029
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G |
EPHB4 |
EPH receptor B4 |
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IAGP |
ClinVar Annotator: match by term: Capillary malformation-arteriovenous malformation syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr 7:100,802,565...100,827,523
Ensembl chr 7:100,802,565...100,827,523
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G |
LOC126860124 |
CDK7 strongly-dependent group 2 enhancer GRCh37_chr7:100403701-100404900 |
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IAGP |
ClinVar Annotator: match by term: Capillary malformation-arteriovenous malformation syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr 7:100,805,443...100,807,278
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G |
LOC644285 |
uncharacterized LOC644285 |
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IAGP |
ClinVar Annotator: match by term: Capillary malformation-arteriovenous malformation syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 5:87,318,415...87,323,628
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G |
RASA1 |
RAS p21 protein activator 1 |
susceptibility |
IAGP EXP |
DNA:mutations:multiple (human) ClinVar Annotator: match by term: Capillary malformation-arteriovenous malformation | ClinVar Annotator: match by term: Capillary malformation-arteriovenous malformation syndrome CTD Direct Evidence: marker/mechanism |
ClinVar CTD RGD |
PMID:9219684 PMID:9536098 PMID:14639529 PMID:15574420 PMID:16199547 PMID:17576681 PMID:18363760 PMID:18446851 PMID:21626678 PMID:22200646 PMID:23164092 PMID:23650393 PMID:23687085 PMID:23801933 PMID:24038909 PMID:24139535 PMID:24274751 PMID:25040287 PMID:25640679 PMID:25741868 PMID:26499346 PMID:26774077 PMID:26969842 PMID:27081547 PMID:27535533 PMID:28295764 PMID:28492532 PMID:28655553 PMID:29024832 PMID:29110021 PMID:29120072 PMID:29171923 PMID:29891884 PMID:30026675 PMID:30120215 PMID:33248299 PMID:35209959 PMID:36980822 PMID:14639529 More...
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RGD:734495 |
NCBI chr 5:87,267,883...87,391,916
Ensembl chr 5:87,267,883...87,391,931
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G |
STAMBP |
STAM binding protein |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23542699 |
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NCBI chr 2:73,828,961...73,873,656
Ensembl chr 2:73,828,916...73,873,659
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G |
CCNH |
cyclin H |
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IAGP |
ClinVar Annotator: match by term: Capillary malformation-arteriovenous malformation 1 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...
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NCBI chr 5:87,311,471...87,412,930
Ensembl chr 5:87,318,416...87,413,029
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G |
KRAS |
KRAS proto-oncogene, GTPase |
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IAGP |
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...
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NCBI chr12:25,205,246...25,250,929
Ensembl chr12:25,205,246...25,250,936
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G |
LOC644285 |
uncharacterized LOC644285 |
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IAGP |
ClinVar Annotator: match by term: Capillary malformation-arteriovenous malformation 1 |
ClinVar |
PMID:28492532 |
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NCBI chr 5:87,318,415...87,323,628
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G |
PIK3CA |
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha |
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IAGP |
ClinVar Annotator: match by term: Capillary malformation-arteriovenous malformation 1 |
ClinVar |
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NCBI chr 3:179,148,126...179,240,093
Ensembl chr 3:179,148,114...179,240,093
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G |
RASA1 |
RAS p21 protein activator 1 |
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IAGP |
ClinVar Annotator: match by term: Capillary malformation-arteriovenous malformation 1 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...
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NCBI chr 5:87,267,883...87,391,916
Ensembl chr 5:87,267,883...87,391,931
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G |
EPHB4 |
EPH receptor B4 |
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IAGP |
ClinVar Annotator: match by term: Capillary malformation-arteriovenous malformation 2 | ClinVar Annotator: match by term: EPHB4-related disorders 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...
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NCBI chr 7:100,802,565...100,827,523
Ensembl chr 7:100,802,565...100,827,523
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G |
LOC126860124 |
CDK7 strongly-dependent group 2 enhancer GRCh37_chr7:100403701-100404900 |
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IAGP |
ClinVar Annotator: match by term: Capillary malformation-arteriovenous malformation 2 ClinVar Annotator: match by term: Capillary malformation-arteriovenous malformation 2 | ClinVar Annotator: match by term: EPHB4-related disorders |
ClinVar |
PMID:16199547 PMID:21348050 PMID:25741868 PMID:27400125 PMID:28492532 PMID:28687708 PMID:28730721 PMID:29444212 PMID:29905864 PMID:30578106 PMID:30760892 PMID:32267001 PMID:33240318 PMID:36813543 More...
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NCBI chr 7:100,805,443...100,807,278
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G |
SLC12A9 |
solute carrier family 12 member 9 |
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IAGP |
ClinVar Annotator: match by term: Capillary malformation-arteriovenous malformation 2 |
ClinVar |
PMID:25741868 PMID:28492532 PMID:28687708 |
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NCBI chr 7:100,826,869...100,867,012
Ensembl chr 7:100,826,820...100,867,010
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G |
CCM2 |
CCM2 scaffold protein |
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IAGP |
ClinVar Annotator: match by term: Cavernous hemangioma |
ClinVar |
PMID:25741868 |
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NCBI chr 7:44,999,746...45,076,470
Ensembl chr 7:44,999,475...45,076,469
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G |
KRIT1 |
KRIT1 ankyrin repeat containing |
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IAGP |
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...
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NCBI chr 7:92,198,969...92,246,100
Ensembl chr 7:92,197,498...92,246,166
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G |
PDCD10 |
programmed cell death 10 |
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IAGP |
ClinVar Annotator: match by term: Cavernous hemangioma |
ClinVar |
PMID:9536098 PMID:16329096 PMID:17576681 PMID:24466005 PMID:25122144 PMID:25741868 PMID:28492532 More...
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NCBI chr 3:167,683,298...167,734,892
Ensembl chr 3:167,683,298...167,734,939
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G |
CCNH |
cyclin H |
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IAGP |
ClinVar Annotator: match by term: Cerebral venous angioma |
ClinVar |
PMID:23650393 PMID:25741868 PMID:31680349 |
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NCBI chr 5:87,311,471...87,412,930
Ensembl chr 5:87,318,416...87,413,029
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G |
RASA1 |
RAS p21 protein activator 1 |
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IAGP |
ClinVar Annotator: match by term: Cerebral venous angioma |
ClinVar |
PMID:23650393 PMID:25741868 PMID:31680349 |
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NCBI chr 5:87,267,883...87,391,916
Ensembl chr 5:87,267,883...87,391,931
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G |
VHL |
von Hippel-Lindau tumor suppressor |
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IAGP |
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...
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NCBI chr 3:10,141,778...10,153,667
Ensembl chr 3:10,141,778...10,153,676
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G |
AKAP9 |
A-kinase anchoring protein 9 |
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IAGP |
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...
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NCBI chr 7:91,940,862...92,110,673
Ensembl chr 7:91,940,840...92,110,673
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G |
ANKIB1 |
ankyrin repeat and IBR domain containing 1 |
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IAGP |
ClinVar Annotator: match by term: Cerebral cavernous malformation |
ClinVar |
PMID:25741868 |
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NCBI chr 7:92,245,974...92,401,383
Ensembl chr 7:92,245,974...92,401,383
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G |
CCM2 |
CCM2 scaffold protein |
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EXP IAGP |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Cerebral cavernous malformation |
CTD ClinVar |
PMID:18154020 PMID:25525273 PMID:25741868 PMID:28492532 |
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NCBI chr 7:44,999,746...45,076,470
Ensembl chr 7:44,999,475...45,076,469
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G |
CYP51A1 |
cytochrome P450 family 51 subfamily A member 1 |
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IAGP |
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...
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NCBI chr 7:92,112,153...92,134,803
Ensembl chr 7:92,084,987...92,134,803
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G |
CYP51A1-AS1 |
CYP51A1 antisense RNA 1 |
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IAGP |
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...
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NCBI chr 7:92,134,563...92,180,725
Ensembl chr 7:92,134,563...92,180,725
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G |
FLT1 |
fms related receptor tyrosine kinase 1 |
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IEP |
protein:increased expression:endothelial cell: |
RGD |
PMID:11220380 |
RGD:8551824 |
NCBI chr13:28,300,346...28,495,128
Ensembl chr13:28,300,346...28,495,145
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G |
KDR |
kinase insert domain receptor |
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IEP |
protein:increased expression:endothelial cell: |
RGD |
PMID:11220380 |
RGD:8551824 |
NCBI chr 4:55,078,481...55,125,595
Ensembl chr 4:55,078,481...55,125,595
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G |
KRIT1 |
KRIT1 ankyrin repeat containing |
susceptibility |
IAGP ISS EXP |
ClinVar Annotator: match by term: Cerebral cavernous malformation ClinVar Annotator: match by term: Cavernous Hemangioma of Brain | ClinVar Annotator: match by term: Cerebral cavernous malformation ClinVar Annotator: match by term: Cavernous Hemangioma of Brain | ClinVar Annotator: match by term: Cerebral cavernous malformation | ClinVar Annotator: match by term: Cerebral cavernous malformations CTD Direct Evidence: marker/mechanism |
ClinVar MouseDO CTD RGD |
PMID:3393196 PMID:7898703 PMID:9065560 PMID:9536098 PMID:10508515 PMID:10545614 PMID:10814716 PMID:11161805 PMID:11222804 PMID:11914398 PMID:11941540 PMID:11959162 PMID:12404106 PMID:12810002 PMID:12854741 PMID:14755725 PMID:15079030 PMID:16199547 PMID:16321204 PMID:16571644 PMID:17187287 PMID:17211633 PMID:17277691 PMID:17440989 PMID:17562932 PMID:17576681 PMID:18060436 PMID:18300272 PMID:18380023 PMID:18383588 PMID:19088123 PMID:19099113 PMID:19454328 PMID:19763152 PMID:20301470 PMID:20306072 PMID:20307669 PMID:20419355 PMID:20798775 PMID:21029238 PMID:22406018 PMID:23584803 PMID:23595507 PMID:24007869 PMID:24401931 PMID:24466005 PMID:24689081 PMID:24721395 PMID:25525159 PMID:25525273 PMID:25640679 PMID:25741868 PMID:26467025 PMID:26682556 PMID:27766163 PMID:27790124 PMID:27792856 PMID:28000143 PMID:28492532 PMID:28645800 PMID:28745674 PMID:28867399 PMID:29593473 PMID:30161288 PMID:31124307 PMID:31254430 PMID:33651268 PMID:33891857 PMID:33911302 PMID:34558799 PMID:34634677 PMID:34964173 PMID:15079030 PMID:14755725 More...
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RGD:1598379, RGD:1358458 |
NCBI chr 7:92,198,969...92,246,100
Ensembl chr 7:92,197,498...92,246,166
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G |
LOC113748416 |
Sharpr-MPRA regulatory region 5961 |
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IAGP |
ClinVar Annotator: match by term: Cerebral cavernous malformation |
ClinVar |
PMID:25741868 |
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NCBI chr 7:92,245,795...92,246,409
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G |
LOC129937857 |
ATAC-STARR-seq lymphoblastoid active region 20771 |
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IAGP |
ClinVar Annotator: match by term: Cavernous Hemangioma of Brain |
ClinVar |
PMID:25741868 |
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NCBI chr 3:167,734,704...167,735,143
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G |
LRRD1 |
leucine rich repeats and death domain containing 1 |
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IAGP |
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...
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NCBI chr 7:92,141,643...92,179,142
Ensembl chr 7:92,141,643...92,179,531
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G |
MTERF1 |
mitochondrial transcription termination factor 1 |
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IAGP |
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...
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NCBI chr 7:91,870,929...91,880,702
Ensembl chr 7:91,692,008...91,880,702
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G |
NOTCH3 |
notch receptor 3 |
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IAGP |
ClinVar Annotator: match by term: Cerebral cavernous malformation |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr19:15,159,038...15,200,995
Ensembl chr19:15,159,038...15,200,995
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G |
PDCD10 |
programmed cell death 10 |
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IAGP |
ClinVar Annotator: match by term: Cerebral cavernous malformation 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...
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NCBI chr 3:167,683,298...167,734,892
Ensembl chr 3:167,683,298...167,734,939
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G |
PON1 |
paraoxonase 1 |
susceptibility |
IAGP |
DNA:missense mutations:cds:p.L55M, p.Q192R (human) |
RGD |
PMID:26122242 |
RGD:11552573 |
NCBI chr 7:95,297,676...95,324,532
Ensembl chr 7:95,297,676...95,324,532
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G |
PTEN |
phosphatase and tensin homolog |
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IEP |
protein:decreased expression:brain (human) |
RGD |
PMID:19061355 |
RGD:12859036 |
NCBI chr10:87,863,625...87,971,930
Ensembl chr10:87,862,638...87,971,930
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G |
SERPINI1 |
serpin family I member 1 |
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IAGP |
ClinVar Annotator: match by term: Cavernous Hemangioma of Brain | ClinVar Annotator: match by term: Cerebral cavernous malformation |
ClinVar |
PMID:25741868 |
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NCBI chr 3:167,735,721...167,825,569
Ensembl chr 3:167,735,243...167,825,569
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G |
KRIT1 |
KRIT1 ankyrin repeat containing |
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IAGP |
ClinVar Annotator: match by term: Cerebral cavernous malformation 1 ClinVar Annotator: match by term: KRIT1-Related Disorders ClinVar Annotator: match by term: Cerebral cavernous malformation 1 | ClinVar Annotator: match by term: KRIT1-Related Disorders |
ClinVar OMIM |
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...
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NCBI chr 7:92,198,969...92,246,100
Ensembl chr 7:92,197,498...92,246,166
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G |
PDCD10 |
programmed cell death 10 |
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IAGP |
ClinVar Annotator: match by term: Cerebral cavernous malformation 1 |
ClinVar |
PMID:25741868 |
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NCBI chr 3:167,683,298...167,734,892
Ensembl chr 3:167,683,298...167,734,939
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G |
PTGIS |
prostaglandin I2 synthase |
exacerbates |
IAGP |
DNA:silent mutation:CDS:p.L256L (rs5628) (human) |
RGD |
PMID:26795600 |
RGD:401960081 |
NCBI chr20:49,503,874...49,568,137
Ensembl chr20:49,503,874...49,568,137
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G |
CCM2 |
CCM2 scaffold protein |
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IAGP ISS EXP |
ClinVar Annotator: match by term: Cerebral cavernous malformation 2 OMIM:603284 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar MouseDO CTD |
PMID:2468908 PMID:9536098 PMID:14624391 PMID:14740320 PMID:15122722 PMID:16199547 PMID:17160895 PMID:17277691 PMID:17576681 PMID:18060436 PMID:18300272 PMID:19088123 PMID:19088124 PMID:19475721 PMID:20419355 PMID:23595507 PMID:24466005 PMID:24689081 PMID:25525273 PMID:25741868 PMID:26467025 PMID:27153162 PMID:27561926 PMID:27792856 PMID:28492532 PMID:28655553 PMID:30161288 PMID:31937560 PMID:32860008 PMID:35307828 More...
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NCBI chr 7:44,999,746...45,076,470
Ensembl chr 7:44,999,475...45,076,469
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G |
LOC129998395 |
ATAC-STARR-seq lymphoblastoid silent region 18162 |
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IAGP |
ClinVar Annotator: match by term: Cerebral cavernous malformation 2 |
ClinVar |
PMID:2468908 PMID:9536098 PMID:14624391 PMID:14740320 PMID:15122722 PMID:16199547 PMID:17576681 PMID:18300272 PMID:19088124 PMID:23595507 PMID:24689081 PMID:25741868 PMID:26467025 PMID:27792856 PMID:28492532 More...
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NCBI chr 7:45,000,148...45,000,677
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G |
LOC129998398 |
ATAC-STARR-seq lymphoblastoid active region 25968 |
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IAGP |
ClinVar Annotator: match by term: Cerebral cavernous malformation 2 |
ClinVar |
PMID:17160895 PMID:28492532 |
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NCBI chr 7:45,028,209...45,028,278
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G |
LOC132090779 |
Neanderthal introgressed variant-containing enhancer experimental_99227 |
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IAGP |
ClinVar Annotator: match by term: Cerebral cavernous malformation 2 |
ClinVar |
PMID:17160895 PMID:25741868 PMID:28492532 |
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NCBI chr 7:45,074,405...45,074,574
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G |
NACAD |
NAC alpha domain containing |
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IAGP |
ClinVar Annotator: match by term: Cerebral cavernous malformation 2 |
ClinVar |
PMID:17160895 PMID:28492532 |
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NCBI chr 7:45,080,437...45,088,969
Ensembl chr 7:45,080,437...45,088,969
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G |
LOC129937855 |
ATAC-STARR-seq lymphoblastoid silent region 14866 |
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IAGP |
ClinVar Annotator: match by term: Cerebral cavernous malformation 3 |
ClinVar |
PMID:28492532 |
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NCBI chr 3:167,691,537...167,691,676
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G |
LOC129937857 |
ATAC-STARR-seq lymphoblastoid active region 20771 |
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IAGP |
ClinVar Annotator: match by term: Cerebral cavernous malformation 3 |
ClinVar |
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NCBI chr 3:167,734,704...167,735,143
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G |
PDCD10 |
programmed cell death 10 |
onset exacerbates |
IAGP ISS EXP |
ClinVar Annotator: match by term: Cerebral cavernous malformation 3 ClinVar Annotator: match by term: Cerebral cavernous malformations 3 DNA:deletion:CDS:c.506delA (human) DNA:mutations:multiple (human) DNA:SNPs:promoter: (rs9853967, rs11714980) (human) DNA:nonsense mutation, frameshift mutations:CDS:multiple (human) DNA:mutations:SNPs, duplications, deletions:multiple (human) DNA:deletions, nonsense mutations:multiple (human) OMIM:603285 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar MouseDO CTD RGD |
PMID:9536098 PMID:15543491 PMID:16199547 PMID:16329096 PMID:16380626 PMID:17576681 PMID:18035376 PMID:18060436 PMID:18300272 PMID:20623299 PMID:23485406 PMID:23595507 PMID:23801932 PMID:24466005 PMID:24689081 PMID:25122144 PMID:25354366 PMID:25640679 PMID:25741868 PMID:26246098 PMID:26896283 PMID:28492532 PMID:30161288 PMID:34597987 PMID:17041941 PMID:25122144 PMID:27737651 PMID:16284570 PMID:25354366 PMID:15543491 More...
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RGD:401827173, RGD:401827115, RGD:401827114, RGD:401827108, RGD:401827103, RGD:401827102, RGD:329961304 |
NCBI chr 3:167,683,298...167,734,892
Ensembl chr 3:167,683,298...167,734,939
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G |
SERPINI1 |
serpin family I member 1 |
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IAGP |
ClinVar Annotator: match by term: Cerebral cavernous malformation 3 |
ClinVar |
PMID:15543491 PMID:18300272 PMID:23801932 PMID:25741868 PMID:28492532 |
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NCBI chr 3:167,735,721...167,825,569
Ensembl chr 3:167,735,243...167,825,569
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G |
PIK3CA |
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha |
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IAGP |
ClinVar Annotator: match by term: Cerebral cavernous malformation 4 |
OMIM ClinVar |
PMID:25741868 |
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NCBI chr 3:179,148,126...179,240,093
Ensembl chr 3:179,148,114...179,240,093
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G |
GNA14 |
G protein subunit alpha 14 |
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IAGP |
ClinVar Annotator: match by term: Cerebrofacial arteriovenous metameric syndrome |
ClinVar |
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NCBI chr 9:77,423,079...77,648,322
Ensembl chr 9:77,423,079...77,648,322
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G |
TP53 |
tumor protein p53 |
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IAGP EXP |
ClinVar Annotator: match by term: Choroid plexus papilloma ClinVar Annotator: match by term: Papilloma of choroid plexus CTD Direct Evidence: marker/mechanism |
ClinVar OMIM CTD |
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...
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NCBI chr17:7,668,421...7,687,490
Ensembl chr17:7,661,779...7,687,546
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G |
PIK3CA |
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha |
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IAGP |
ClinVar Annotator: match by term: Capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowth ClinVar Annotator: match by term: CLAPO syndrome |
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...
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NCBI chr 3:179,148,126...179,240,093
Ensembl chr 3:179,148,114...179,240,093
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AXIN2 |
axin 2 |
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IEP |
protein:increased expression:: |
RGD |
PMID:11809809 |
RGD:151356508 |
NCBI chr17:65,528,563...65,561,648
Ensembl chr17:65,528,563...65,561,648
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CACNA1D |
calcium voltage-gated channel subunit alpha1 D |
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HEP |
protein:increased expression:colon (human) |
RGD |
PMID:29079724 |
RGD:152177516 |
NCBI chr 3:53,494,611...53,813,733
Ensembl chr 3:53,328,963...53,813,733
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CCND1 |
cyclin D1 |
severity |
IEP |
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RGD |
PMID:11375949 |
RGD:151665121 |
NCBI chr11:69,641,156...69,654,474
Ensembl chr11:69,641,156...69,654,474
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CCND2 |
cyclin D2 |
severity |
IEP |
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RGD |
PMID:11375949 |
RGD:151665121 |
NCBI chr12:4,273,762...4,305,353
Ensembl chr12:4,269,771...4,305,353
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CHKA |
choline kinase alpha |
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IEP |
protein:increased expression:colonic mucosa (human) |
RGD |
PMID:10363580 |
RGD:10401945 |
NCBI chr11:68,052,859...68,121,388
Ensembl chr11:68,052,859...68,121,444
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IGF2BP1 |
insulin like growth factor 2 mRNA binding protein 1 |
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ISO |
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RGD |
PMID:26194191 |
RGD:11086893 |
NCBI chr17:48,996,558...49,056,145
Ensembl chr17:48,997,385...49,056,145
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RAC1 |
Rac family small GTPase 1 |
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IEP |
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RGD |
PMID:12865273 |
RGD:13432048 |
NCBI chr 7:6,374,527...6,403,967
Ensembl chr 7:6,374,527...6,403,967
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RBP4 |
retinol binding protein 4 |
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IEP |
protein:increased expression:blood serum (human) |
RGD |
PMID:25712946 |
RGD:329849123 |
NCBI chr10:93,591,694...93,601,744
Ensembl chr10:93,591,687...93,601,744
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TET2 |
tet methylcytosine dioxygenase 2 |
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IEP |
mRNA:decreased expression:colon (human) |
RGD |
PMID:29875879 |
RGD:150429665 |
NCBI chr 4:105,145,875...105,279,803
Ensembl chr 4:105,145,875...105,279,816
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COL11A2 |
collagen type XI alpha 2 chain |
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IAGP |
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...
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NCBI chr 6:33,162,694...33,193,519
Ensembl chr 6:33,162,681...33,192,499
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IFNA2 |
interferon alpha 2 |
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EXP |
CTD Direct Evidence: therapeutic |
CTD |
PMID:15982392 |
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NCBI chr 9:21,384,255...21,385,398
Ensembl chr 9:21,384,255...21,385,398
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ACE |
angiotensin I converting enzyme |
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IAGP |
DNA:deletion:intron:IVS16+1464-1751del (human) |
RGD |
PMID:20488708 |
RGD:11039024 |
NCBI chr17:63,477,061...63,498,373
Ensembl chr17:63,477,061...63,498,380
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CAND2 |
cullin associated and neddylation dissociated 2 (putative) |
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ISO |
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RGD |
PMID:31426861 |
RGD:18899564 |
NCBI chr 3:12,796,680...12,834,803
Ensembl chr 3:12,796,472...12,834,804
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GLMN |
glomulin, FKBP associated protein |
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IAGP |
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...
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NCBI chr 1:92,246,402...92,370,844
Ensembl chr 1:92,246,402...92,298,987
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GLMN |
glomulin, FKBP associated protein |
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IAGP EXP |
ClinVar Annotator: match by term: Glomuvenous malformation ClinVar Annotator: match by term: Glomuvenous malformation | ClinVar Annotator: match by term: Glomuvenous malformations CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:11175297 PMID:11845407 PMID:15689436 PMID:23375657 PMID:23801931 PMID:24033266 PMID:25741868 PMID:28492532 PMID:30460983 More...
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NCBI chr 1:92,246,402...92,370,844
Ensembl chr 1:92,246,402...92,298,987
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CXCR4 |
C-X-C motif chemokine receptor 4 |
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IEP |
mRNA,protein:increased expression:temporal lobe : |
RGD |
PMID:27388534 |
RGD:155641257 |
NCBI chr 2:136,114,349...136,118,149
Ensembl chr 2:136,114,349...136,119,177
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DLL4 |
delta like canonical Notch ligand 4 |
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IEP |
mRNA,protein:increased expression:temporal lobe : |
RGD |
PMID:27388534 |
RGD:155641257 |
NCBI chr15:40,929,340...40,939,073
Ensembl chr15:40,929,340...40,939,073
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HEY1 |
hes related family bHLH transcription factor with YRPW motif 1 |
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IEP |
mRNA,protein:increased expression:temporal lobe : |
RGD |
PMID:27388534 |
RGD:155641257 |
NCBI chr 8:79,764,010...79,767,767
Ensembl chr 8:79,762,371...79,767,857
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HIF1A |
hypoxia inducible factor 1 subunit alpha |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15341671 |
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NCBI chr14:61,695,513...61,748,258
Ensembl chr14:61,695,513...61,748,259
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NDRG1 |
N-myc downstream regulated 1 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15341671 |
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NCBI chr 8:133,237,175...133,297,252
Ensembl chr 8:133,237,175...133,302,022
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NOTCH4 |
notch receptor 4 |
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IEP |
mRNA,protein:increased expression:temporal lobe : |
RGD |
PMID:27388534 |
RGD:155641257 |
NCBI chr 6:32,194,843...32,224,067
Ensembl chr 6:32,194,843...32,224,067
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FOXO1 |
forkhead box O1 |
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ISO |
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RGD |
PMID:17254969 |
RGD:155630604 |
NCBI chr13:40,555,667...40,666,641
Ensembl chr13:40,555,667...40,666,641
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FOXO3 |
forkhead box O3 |
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ISO |
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RGD |
PMID:17254969 |
RGD:155630604 |
NCBI chr 6:108,559,825...108,684,774
Ensembl chr 6:108,559,835...108,684,774
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FOXO4 |
forkhead box O4 |
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ISO |
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RGD |
PMID:17254969 |
RGD:155630604 |
NCBI chr X:71,095,851...71,103,532
Ensembl chr X:71,095,851...71,103,535
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FOXP1 |
forkhead box P1 |
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IAGP |
ClinVar Annotator: match by term: Glabellar hemangioma |
ClinVar |
PMID:25741868 |
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NCBI chr 3:70,954,708...71,583,978
Ensembl chr 3:70,954,693...71,583,978
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IDH1 |
isocitrate dehydrogenase (NADP(+)) 1 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22057234 |
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NCBI chr 2:208,236,227...208,255,071
Ensembl chr 2:208,236,229...208,266,074
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IDH2 |
isocitrate dehydrogenase (NADP(+)) 2 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22057234 |
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NCBI chr15:90,083,045...90,102,468
Ensembl chr15:90,083,045...90,102,477
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MMP2 |
matrix metallopeptidase 2 |
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IEP |
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RGD |
PMID:19821096 |
RGD:8657063 |
NCBI chr16:55,478,830...55,506,691
Ensembl chr16:55,389,700...55,506,691
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NOTCH1 |
notch receptor 1 |
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IAGP |
ClinVar Annotator: match by term: Hemangioma |
ClinVar |
PMID:25741868 |
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NCBI chr 9:136,494,433...136,546,048
Ensembl chr 9:136,494,433...136,546,048
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PTEN |
phosphatase and tensin homolog |
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EXP IAGP |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Hemangioma |
CTD ClinVar |
PMID:9286463 PMID:9467011 PMID:21194675 PMID:28492532 |
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NCBI chr10:87,863,625...87,971,930
Ensembl chr10:87,862,638...87,971,930
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SLC2A1 |
solute carrier family 2 member 1 |
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IEP |
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RGD |
PMID:10665907 |
RGD:12879499 |
NCBI chr 1:42,925,353...42,958,868
Ensembl chr 1:42,925,353...42,958,893
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SRD5A3 |
steroid 5 alpha-reductase 3 |
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IAGP |
ClinVar Annotator: match by term: Hemangioma |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 4:55,346,242...55,373,100
Ensembl chr 4:55,346,213...55,373,100
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SRD5A3-AS1 |
SRD5A3 antisense RNA 1 |
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IAGP |
ClinVar Annotator: match by term: Hemangioma |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 4:55,366,601...55,385,580
Ensembl chr 4:55,363,971...55,396,096
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TSC2 |
TSC complex subunit 2 |
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ISO |
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RGD |
PMID:10096549 |
RGD:11568655 |
NCBI chr16:2,047,985...2,089,491
Ensembl chr16:2,047,967...2,089,491
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YAP1 |
Yes1 associated transcriptional regulator |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:31351048 |
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NCBI chr11:102,110,447...102,233,424
Ensembl chr11:102,110,447...102,233,424
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GJA4 |
gap junction protein alpha 4 |
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IAGP |
ClinVar Annotator: match by term: Hepatic hemangioma |
ClinVar |
PMID:33912852 |
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NCBI chr 1:34,792,999...34,795,747
Ensembl chr 1:34,792,999...34,795,747
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ANTXR1 |
ANTXR cell adhesion molecule 1 |
susceptibility |
IAGP EXP |
ClinVar Annotator: match by term: Capillary infantile hemangioma CTD Direct Evidence: marker/mechanism |
ClinVar CTD OMIM |
PMID:18931684 PMID:25741868 PMID:28492532 |
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NCBI chr 2:69,013,144...69,249,327
Ensembl chr 2:69,013,176...69,249,327
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CCNH |
cyclin H |
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IAGP |
ClinVar Annotator: match by term: Capillary infantile hemangioma |
ClinVar |
PMID:25741868 |
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NCBI chr 5:87,311,471...87,412,930
Ensembl chr 5:87,318,416...87,413,029
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FAT4 |
FAT atypical cadherin 4 |
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IAGP |
ClinVar Annotator: match by term: Capillary infantile hemangioma |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 4:125,314,955...125,492,932
Ensembl chr 4:125,314,918...125,492,932
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FLT4 |
fms related receptor tyrosine kinase 4 |
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IAGP EXP |
ClinVar Annotator: match by term: Capillary infantile hemangioma CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:11807987 PMID:25741868 PMID:28492532 |
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NCBI chr 5:180,601,506...180,650,298
Ensembl chr 5:180,601,506...180,649,624
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KDR |
kinase insert domain receptor |
susceptibility |
IAGP EXP |
ClinVar Annotator: match by term: Capillary infantile hemangioma CTD Direct Evidence: marker/mechanism |
ClinVar CTD OMIM |
PMID:11807987 PMID:18931684 PMID:24033266 PMID:24728327 PMID:25741868 |
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NCBI chr 4:55,078,481...55,125,595
Ensembl chr 4:55,078,481...55,125,595
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MYH9 |
myosin heavy chain 9 |
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IAGP |
ClinVar Annotator: match by term: Capillary infantile hemangioma |
ClinVar |
PMID:28492532 |
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NCBI chr22:36,281,280...36,387,967
Ensembl chr22:36,281,280...36,388,010
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RASA1 |
RAS p21 protein activator 1 |
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IAGP |
ClinVar Annotator: match by term: Capillary infantile hemangioma |
ClinVar |
PMID:25741868 |
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NCBI chr 5:87,267,883...87,391,916
Ensembl chr 5:87,267,883...87,391,931
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SLC2A1 |
solute carrier family 2 member 1 |
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IEP |
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RGD |
PMID:17554865 |
RGD:12879502 |
NCBI chr 1:42,925,353...42,958,868
Ensembl chr 1:42,925,353...42,958,893
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VEGFA |
vascular endothelial growth factor A |
disease_progression |
IEP |
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RGD |
PMID:26957058 |
RGD:155663370 |
NCBI chr 6:43,770,211...43,786,487
Ensembl chr 6:43,770,184...43,786,487
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FGF2 |
fibroblast growth factor 2 |
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IDA |
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RGD |
PMID:14517397 |
RGD:8655667 |
NCBI chr 4:122,826,682...122,898,236
Ensembl chr 4:122,826,682...122,898,236
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GNA14 |
G protein subunit alpha 14 |
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IAGP |
ClinVar Annotator: match by term: Kaposiform hemangioendothelioma |
ClinVar |
PMID:25741868 PMID:27476652 |
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NCBI chr 9:77,423,079...77,648,322
Ensembl chr 9:77,423,079...77,648,322
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BRAF |
B-Raf proto-oncogene, serine/threonine kinase |
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IAGP |
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...
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NCBI chr 7:140,713,328...140,924,929
Ensembl chr 7:140,719,327...140,924,929
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FLT4 |
fms related receptor tyrosine kinase 4 |
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IEP |
protein:increased expression:;lymphatic endothelial cell: |
RGD |
PMID:17584927 |
RGD:8552338 |
NCBI chr 5:180,601,506...180,650,298
Ensembl chr 5:180,601,506...180,649,624
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G |
KDR |
kinase insert domain receptor |
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IEP |
protein:increased expression:;lymphatic endothelial cell: |
RGD |
PMID:17584927 |
RGD:8552338 |
NCBI chr 4:55,078,481...55,125,595
Ensembl chr 4:55,078,481...55,125,595
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PIK3CA |
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha |
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IAGP |
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...
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NCBI chr 3:179,148,126...179,240,093
Ensembl chr 3:179,148,114...179,240,093
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LOC126806253 |
CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:74057585-74058784 |
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IAGP |
ClinVar Annotator: match by term: Microcephaly-capillary malformation syndrome ClinVar Annotator: match by term: Microcephaly-capillary malformation syndrome | ClinVar Annotator: match by term: STAMBP-related condition |
ClinVar |
PMID:18414213 PMID:21815250 PMID:23542699 PMID:25741868 PMID:28492532 |
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NCBI chr 2:73,830,458...73,831,657
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STAMBP |
STAM binding protein |
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IAGP |
ClinVar Annotator: match by term: Microcephaly-capillary malformation syndrome ClinVar Annotator: match by term: Microcephaly-capillary malformation syndrome | ClinVar Annotator: match by term: STAMBP-related condition |
ClinVar OMIM |
PMID:18414213 PMID:21271646 PMID:21815250 PMID:23542699 PMID:25326635 PMID:25741868 PMID:28492532 PMID:29907875 More...
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NCBI chr 2:73,828,961...73,873,656
Ensembl chr 2:73,828,916...73,873,659
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GJA4 |
gap junction protein alpha 4 |
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IAGP |
ClinVar Annotator: match by term: Cutaneous venous malformation |
ClinVar |
PMID:33912852 |
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NCBI chr 1:34,792,999...34,795,747
Ensembl chr 1:34,792,999...34,795,747
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TEK |
TEK receptor tyrosine kinase |
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IAGP EXP |
ClinVar Annotator: match by term: Multiple cutaneous and mucosal venous malformations ClinVar Annotator: match by term: Multiple cutaneous and mucosal venous malformations | ClinVar Annotator: match by term: Segmental undergrowth associated with venous malformation without capillary component CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:7783168 PMID:7833915 PMID:8415706 PMID:8980225 PMID:9926914 PMID:10369874 PMID:19079259 PMID:19888299 PMID:20301733 PMID:25326635 PMID:25741868 PMID:26319232 PMID:27270174 PMID:28492532 More...
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NCBI chr 9:27,109,225...27,230,174
Ensembl chr 9:27,109,141...27,230,174
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CFTR |
CF transmembrane conductance regulator |
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IAGP |
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...
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NCBI chr 7:117,480,025...117,668,665
Ensembl chr 7:117,287,120...117,715,971
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G |
LZTR1 |
leucine zipper like post translational regulator 1 |
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IAGP |
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...
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NCBI chr22:20,982,297...20,999,032
Ensembl chr22:20,982,269...20,999,032
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G |
SOS1 |
SOS Ras/Rac guanine nucleotide exchange factor 1 |
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IAGP |
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...
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NCBI chr 2:38,981,549...39,124,868
Ensembl chr 2:38,962,206...39,124,345
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G |
BMPR2 |
bone morphogenetic protein receptor type 2 |
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IAGP |
ClinVar Annotator: match by term: Familial pulmonary capillary hemangiomatosis |
ClinVar |
PMID:18626305 PMID:24292273 |
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NCBI chr 2:202,376,327...202,567,749
Ensembl chr 2:202,376,327...202,567,751
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G |
EIF2AK4 |
eukaryotic translation initiation factor 2 alpha kinase 4 |
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IAGP |
ClinVar Annotator: match by term: Familial pulmonary capillary hemangiomatosis 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...
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NCBI chr15:39,934,115...40,035,591
Ensembl chr15:39,934,115...40,035,591
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G |
LOC130056813 |
ATAC-STARR-seq lymphoblastoid silent region 6314 |
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IAGP |
ClinVar Annotator: match by term: Familial pulmonary capillary hemangiomatosis ClinVar Annotator: match by term: EIF2AK4-related condition |
ClinVar |
PMID:24033266 PMID:25741868 PMID:28492532 |
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NCBI chr15:39,933,988...39,934,397
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G |
APC |
APC regulator of WNT signaling pathway |
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IAGP |
ClinVar Annotator: match by term: Sigmoid colon cancer |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 5:112,707,498...112,846,239
Ensembl chr 5:112,707,518...112,846,239
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G |
MSH2 |
mutS homolog 2 |
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IAGP |
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...
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NCBI chr 2:47,403,067...47,709,830
Ensembl chr 2:47,403,067...47,663,146
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G |
MSH6 |
mutS homolog 6 |
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IAGP |
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...
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NCBI chr 2:47,783,145...47,810,101
Ensembl chr 2:47,695,530...47,810,063
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G |
GJA4 |
gap junction protein alpha 4 |
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IAGP |
ClinVar Annotator: match by term: Skin hemangioma |
ClinVar |
PMID:33912852 |
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NCBI chr 1:34,792,999...34,795,747
Ensembl chr 1:34,792,999...34,795,747
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G |
CCNH |
cyclin H |
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IAGP |
ClinVar Annotator: match by term: Parkes Weber syndrome |
ClinVar |
PMID:24038909 PMID:25741868 PMID:27081547 PMID:28492532 PMID:28655553 PMID:29891884 More...
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NCBI chr 5:87,311,471...87,412,930
Ensembl chr 5:87,318,416...87,413,029
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G |
FN1 |
fibronectin 1 |
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IEP |
mRNA, protein:increased expression:cerebral cortex |
RGD |
PMID:12621118 |
RGD:1358624 |
NCBI chr 2:215,360,865...215,436,068
Ensembl chr 2:215,360,440...215,436,073
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G |
GNAQ |
G protein subunit alpha q |
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IAGP EXP |
ClinVar Annotator: match by term: Sturge-Weber syndrome CTD Direct Evidence: marker/mechanism |
ClinVar CTD OMIM |
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...
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NCBI chr 9:77,716,097...78,031,811
Ensembl chr 9:77,716,097...78,031,811
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G |
MAP2K1 |
mitogen-activated protein kinase kinase 1 |
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IAGP |
ClinVar Annotator: match by term: Parkes Weber syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr15:66,386,912...66,491,544
Ensembl chr15:66,386,837...66,491,656
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G |
MMP2 |
matrix metallopeptidase 2 |
severity |
IEP |
protein:increased expression:urine |
RGD |
PMID:23720035 |
RGD:13204823 |
NCBI chr16:55,478,830...55,506,691
Ensembl chr16:55,389,700...55,506,691
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G |
MMP9 |
matrix metallopeptidase 9 |
severity |
IEP |
protein:increased expression:urine |
RGD |
PMID:23720035 |
RGD:13204823 |
NCBI chr20:46,008,908...46,016,561
Ensembl chr20:46,008,908...46,016,561
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G |
RASA1 |
RAS p21 protein activator 1 |
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IAGP |
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...
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NCBI chr 5:87,267,883...87,391,916
Ensembl chr 5:87,267,883...87,391,931
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G |
MACF1 |
microtubule actin crosslinking factor 1 |
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IAGP |
ClinVar Annotator: match by term: Facial hemangioma |
ClinVar |
PMID:31474318 |
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NCBI chr 1:39,084,167...39,487,138
Ensembl chr 1:39,081,316...39,487,177
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G |
GNA14 |
G protein subunit alpha 14 |
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IAGP |
ClinVar Annotator: match by term: Tufted angioma |
ClinVar |
PMID:25741868 |
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NCBI chr 9:77,423,079...77,648,322
Ensembl chr 9:77,423,079...77,648,322
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G |
KDR |
kinase insert domain receptor |
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IAGP |
ClinVar Annotator: match by term: Tufted angioma |
ClinVar |
PMID:25741868 PMID:26422291 PMID:28492532 |
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NCBI chr 4:55,078,481...55,125,595
Ensembl chr 4:55,078,481...55,125,595
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G |
CLDN14 |
claudin 14 |
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IAGP |
ClinVar Annotator: match by term: Galen vein aneurysm |
ClinVar |
PMID:23991001 PMID:24033266 PMID:25741868 PMID:28492532 PMID:30578106 |
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NCBI chr21:36,460,621...36,576,569
Ensembl chr21:36,460,621...36,576,569
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G |
CLDN14-AS1 |
CLDN14 antisense RNA 1 |
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IAGP |
ClinVar Annotator: match by term: Galen vein aneurysm |
ClinVar |
PMID:23991001 PMID:24033266 PMID:25741868 PMID:28492532 PMID:30578106 |
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NCBI chr21:36,430,325...36,498,526
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G |
EPHB4 |
EPH receptor B4 |
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IAGP |
ClinVar Annotator: match by term: Galen vein aneurysm |
ClinVar |
PMID:30578106 |
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NCBI chr 7:100,802,565...100,827,523
Ensembl chr 7:100,802,565...100,827,523
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G |
KAT6A |
lysine acetyltransferase 6A |
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IAGP |
ClinVar Annotator: match by term: Galen vein aneurysm |
ClinVar |
PMID:30578106 |
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NCBI chr 8:41,929,479...42,051,987
Ensembl chr 8:41,929,479...42,051,994
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G |
KEL |
Kell metallo-endopeptidase (Kell blood group) |
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IAGP |
ClinVar Annotator: match by term: Galen vein aneurysm |
ClinVar |
PMID:30578106 |
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NCBI chr 7:142,941,114...142,962,363
Ensembl chr 7:142,941,114...142,962,363
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G |
KMT2D |
lysine methyltransferase 2D |
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IAGP |
ClinVar Annotator: match by term: Galen vein aneurysm |
ClinVar |
PMID:28492532 PMID:30578106 |
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NCBI chr12:49,018,978...49,060,794
Ensembl chr12:49,018,975...49,060,794
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G |
SMARCA2 |
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 |
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IAGP |
ClinVar Annotator: match by term: Galen vein aneurysm |
ClinVar |
PMID:30578106 |
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NCBI chr 9:2,015,347...2,193,620
Ensembl chr 9:1,980,290...2,193,624
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G |
MAP3K3 |
mitogen-activated protein kinase kinase kinase 3 |
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IAGP |
ClinVar Annotator: match by term: Verrucous venous malformation |
ClinVar |
PMID:25741868 |
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NCBI chr17:63,622,417...63,696,305
Ensembl chr17:63,622,415...63,696,305
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G |
BRK1 |
BRICK1 subunit of SCAR/WAVE actin nucleating complex |
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IAGP |
ClinVar Annotator: match by term: Von Hippel-Lindau syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr 3:10,115,675...10,127,190
Ensembl chr 3:10,115,675...10,127,190
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G |
CCND1 |
cyclin D1 |
susceptibility |
IAGP EXP |
ClinVar Annotator: match by term: VON HIPPEL-LINDAU SYNDROME, MODIFIER OF CTD Direct Evidence: marker/mechanism |
ClinVar CTD OMIM |
PMID:10667569 PMID:11459873 PMID:12097293 PMID:23502783 PMID:24870244 PMID:25741868 More...
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NCBI chr11:69,641,156...69,654,474
Ensembl chr11:69,641,156...69,654,474
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G |
EPAS1 |
endothelial PAS domain protein 1 |
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IEP |
protein:increased expression:kidney: |
RGD |
PMID:22299048 |
RGD:11041600 |
NCBI chr 2:46,297,407...46,386,697
Ensembl chr 2:46,293,667...46,386,697
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G |
IRAK2 |
interleukin 1 receptor associated kinase 2 |
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IAGP |
ClinVar Annotator: match by term: Von Hippel-Lindau syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr 3:10,164,919...10,243,745
Ensembl chr 3:10,164,919...10,243,745
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G |
LOC107303339 |
3p25 BRK1 Alu-mediated recombination region |
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IAGP |
ClinVar Annotator: match by term: Von Hippel-Lindau syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr 3:10,120,032...10,138,833
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G |
LOC107303340 |
3p25 von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase Alu-mediated recombination region |
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IAGP |
ClinVar Annotator: match by term: Von Hippel-Lindau syndrome ClinVar Annotator: match by term: Von Hippel-Lindau | ClinVar Annotator: match by term: Von Hippel-Lindau syndrome |
ClinVar |
PMID:982991 PMID:1056348 PMID:2844285 PMID:4843792 PMID:7553625 PMID:7563486 PMID:7660122 PMID:7728151 PMID:7784063 PMID:7915601 PMID:7977367 PMID:7987306 PMID:7987327 PMID:8069305 PMID:8069849 PMID:8187067 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:9156047 PMID:9398721 PMID:9399847 PMID:9435426 PMID:9447969 PMID:9452032 PMID:9536098 PMID:9663592 PMID:9681856 PMID:9681858 PMID:9770531 PMID:9829911 PMID:9829912 PMID:10088816 PMID:10205047 PMID:10326868 PMID:10340905 PMID:10364675 PMID:10408776 PMID:10458336 PMID:10563480 PMID:10567493 PMID:10570625 PMID:10581162 PMID:10587522 PMID:10761708 PMID:10766184 PMID:10878807 PMID:10900011 PMID:10955664 PMID:11058902 PMID:11148816 PMID:11309459 PMID:11331612 PMID:11331613 PMID:11409863 PMID:11536052 PMID:11688393 PMID:11835384 PMID:11865071 PMID:11896624 PMID:11921283 PMID:11986208 PMID:11987242 PMID:12000816 PMID:12097293 PMID:12114495 PMID:12202531 PMID:12393546 PMID:12414898 PMID:12415268 PMID:12510195 PMID:12538644 PMID:12624160 PMID:12629069 PMID:12702509 PMID:12807974 PMID:12844285 PMID:12944410 PMID:14500403 PMID:14556007 PMID:14604959 PMID:14636579 PMID:14691445 PMID:14722919 PMID:14726398 PMID:14767570 PMID:14965365 PMID:14973063 PMID:14987375 PMID:15177666 PMID:15300849 PMID:15574766 PMID:15607616 PMID:15611064 PMID:15642664 PMID:15642680 PMID:15932632 PMID:16142346 PMID:16199547 PMID:16210343 PMID:16314641 PMID:16452184 PMID:16488999 PMID:16572651 PMID:16585181 PMID:16595991 PMID:16809612 PMID:16969113 PMID:17001110 PMID:17024664 PMID:17060462 PMID:17102069 PMID:17102080 PMID:17102087 PMID:17102088 PMID:17264095 PMID:17350623 PMID:17392848 PMID:17576681 PMID:17640059 PMID:17661816 PMID:17700531 PMID:17898043 PMID:17906660 PMID:17967880 PMID:17992257 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:19270817 PMID:19280651 PMID:19304954 PMID:19309509 PMID:19333546 PMID:19336503 PMID:19408298 PMID:19464396 PMID:19494350 PMID:19574279 PMID:19576851 PMID:19602254 PMID:19734639 PMID:19763184 PMID:19764026 PMID:19906784 PMID:19949673 PMID:19958924 PMID:20054297 PMID:20064270 PMID:20120764 PMID:20151405 PMID:20233476 PMID:20300531 PMID:20351605 PMID:20518900 PMID:20560986 PMID:20567917 PMID:20583150 PMID:20660572 PMID:20844582 PMID:20846682 PMID:20952280 PMID:21362373 PMID:21384277 PMID:21389259 PMID:21454469 PMID:21461997 PMID:21463266 PMID:21606165 PMID:21685897 PMID:21715564 PMID:21784903 PMID:21876117 PMID:21993671 PMID:22105611 PMID:22105711 PMID:22145147 PMID:22357542 PMID:22393103 PMID:22438210 PMID:22517557 PMID:22566194 PMID:22649785 PMID:22799452 PMID:23015148 PMID:23070752 PMID:23102223 PMID:23143947 PMID:23298237 PMID:23315997 PMID:23318261 PMID:23397066 PMID:23403324 PMID:23434161 PMID:23512077 PMID:23606570 PMID:23660872 PMID:23673869 PMID:23772956 PMID:23788753 PMID:23840444 PMID:23842656 PMID:23845641 PMID:23859443 PMID:23968328 PMID:24033266 PMID:24102379 PMID:24115288 PMID:24132471 PMID:24166983 PMID:24206762 PMID:24301059 PMID:24446253 PMID:24466223 PMID:24555745 PMID:24581539 PMID:24707167 PMID:24727139 PMID:24728327 PMID:24729484 PMID:24969085 PMID:24977658 PMID:25078357 PMID:25081542 PMID:25119015 PMID:25157968 PMID:25371412 PMID:25405498 PMID:25557216 PMID:25562111 PMID:25563310 PMID:25583177 PMID:25586603 PMID:25637381 PMID:25683602 PMID:25720320 PMID:25741868 PMID:25773797 PMID:25825477 PMID:25867206 PMID:25885250 PMID:25952756 PMID:26206375 PMID:26228213 PMID:26323595 PMID:26467025 PMID:26503325 PMID:26580448 PMID:26763786 PMID:26822237 PMID:26845104 PMID:26846855 PMID:26920352 PMID:26957611 PMID:27146957 PMID:27439424 PMID:27517496 PMID:27527340 PMID:27530247 PMID:27539324 PMID:27617348 PMID:27651169 PMID:27811160 PMID:28043156 PMID:28052007 PMID:28202063 PMID:28235946 PMID:28349240 PMID:28388566 PMID:28469506 PMID:28492532 PMID:28775317 PMID:28873162 PMID:28944243 PMID:28951115 PMID:29022557 PMID:29124493 PMID:29294023 PMID:29437867 PMID:29510814 PMID:29595810 PMID:29607586 PMID:29616089 PMID:29662268 PMID:29748190 PMID:29758562 PMID:29790589 PMID:29891534 PMID:29949369 PMID:30042107 PMID:30105105 PMID:30194449 PMID:30338240 PMID:30522901 PMID:30877234 PMID:30890701 PMID:30943211 PMID:30946460 PMID:31034483 PMID:31087189 PMID:31132167 PMID:31149315 PMID:31159747 PMID:31350093 PMID:31368132 PMID:31383958 PMID:31397861 PMID:31528828 PMID:31620170 PMID:31666924 PMID:31779674 PMID:31980715 PMID:32106822 PMID:32238909 PMID:32671223 PMID:33004005 PMID:33151962 PMID:33219105 PMID:33362715 PMID:33397040 PMID:33720516 PMID:33938902 PMID:34122352 PMID:34439168 PMID:34571962 PMID:34628056 PMID:34994648 PMID:35008334 PMID:35668420 PMID:35734542 PMID:36480544 PMID:36625343 PMID:38595826 More...
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NCBI chr 3:10,142,339...10,160,352
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G |
MMP3 |
matrix metallopeptidase 3 |
onset |
IAGP |
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RGD |
PMID:19551141 |
RGD:7241233 |
NCBI chr11:102,835,801...102,843,609
Ensembl chr11:102,835,801...102,843,609
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G |
SDHB |
succinate dehydrogenase complex iron sulfur subunit B |
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IAGP |
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...
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NCBI chr 1:17,018,722...17,054,032
Ensembl chr 1:17,018,664...17,054,151
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G |
SLC18A1 |
solute carrier family 18 member A1 |
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IEP |
mRNA:increased expression:tumor (human) |
RGD |
PMID:16189177 |
RGD:5131200 |
NCBI chr 8:20,144,855...20,183,136
Ensembl chr 8:20,144,855...20,183,206
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G |
VHL |
von Hippel-Lindau tumor suppressor |
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IAGP ISS EXP |
ClinVar Annotator: match by term: Von Hippel-Lindau syndrome ClinVar Annotator: match by term: VHL syndrome | ClinVar Annotator: match by term: Von Hippel-Lindau | ClinVar Annotator: match by term: Von Hippel-Lindau syndrome OMIM:193300 CTD Direct Evidence: marker/mechanism |
ClinVar MouseDO CTD OMIM |
PMID:982991 PMID:1056348 PMID:2362675 PMID:2844285 PMID:4843792 PMID:7553625 PMID:7563486 PMID:7660122 PMID:7728151 PMID:7759077 PMID:7784063 PMID:7915601 PMID:7977367 PMID:7987306 PMID:7987327 PMID:8069305 PMID:8069849 PMID:8187067 PMID:8239848 PMID:8270255 PMID:8493574 PMID:8522307 PMID:8550742 PMID:8592333 PMID:8634692 PMID:8641695 PMID:8641976 PMID:8707293 PMID:8730290 PMID:8772572 PMID:8825918 PMID:8825919 PMID:8863170 PMID:8956040 PMID:9058738 PMID:9067265 PMID:9143408 PMID:9156047 PMID:9209471 PMID:9215674 PMID:9329368 PMID:9398721 PMID:9399847 PMID:9435426 PMID:9447969 PMID:9452032 PMID:9536098 PMID:9663592 PMID:9671762 PMID:9681856 PMID:9681858 PMID:9751722 PMID:9770531 PMID:9829911 PMID:9829912 PMID:9880225 PMID:10088816 PMID:10102622 PMID:10205047 PMID:10326868 PMID:10340905 PMID:10364675 PMID:10408776 PMID:10458336 PMID:10533030 PMID:10563480 PMID:10567493 PMID:10570625 PMID:10581162 PMID:10587522 PMID:10612827 PMID:10627136 PMID:10697963 PMID:10761708 PMID:10766184 PMID:10823831 PMID:10862095 PMID:10878807 PMID:10900011 PMID:10955664 PMID:11058902 PMID:11106358 PMID:11114638 PMID:11148816 PMID:11160785 PMID:11171960 PMID:11257211 PMID:11309459 PMID:11331612 PMID:11331613 PMID:11409863 PMID:11483638 PMID:11505222 PMID:11536052 PMID:11688393 PMID:11688398 PMID:11709017 PMID:11739384 PMID:11835384 PMID:11865071 PMID:11896624 PMID:11921283 PMID:11986208 PMID:11987242 PMID:12000816 PMID:12004076 PMID:12050673 PMID:12056827 PMID:12081237 PMID:12097293 PMID:12114475 PMID:12114495 PMID:12202531 PMID:12393546 PMID:12414898 PMID:12415268 PMID:12500216 PMID:12510195 PMID:12538644 PMID:12603429 PMID:12624160 PMID:12629069 PMID:12702509 PMID:12807974 PMID:12844285 PMID:12853836 PMID:12912922 PMID:12944410 PMID:13985160 PMID:14500403 PMID:14556007 PMID:14604959 PMID:14636579 PMID:14691445 PMID:14722919 PMID:14726398 PMID:14767570 PMID:14965365 PMID:14973063 PMID:14987375 PMID:15109448 PMID:15177666 PMID:15300849 PMID:15574766 PMID:15607616 PMID:15611064 PMID:15642664 PMID:15642680 PMID:15881703 PMID:15918937 PMID:15932632 PMID:16142346 PMID:16199547 PMID:16210343 PMID:16261165 PMID:16314641 PMID:16452184 PMID:16488999 PMID:16502427 PMID:16505488 PMID:16572651 PMID:16585181 PMID:16595991 PMID:16669786 PMID:16775032 PMID:16809612 PMID:16847331 PMID:16868829 PMID:16884327 PMID:16952288 PMID:16969113 PMID:17001110 PMID:17024664 PMID:17060462 PMID:17102069 PMID:17102080 PMID:17102082 PMID:17102083 PMID:17102087 PMID:17102088 PMID:17159241 PMID:17264095 PMID:17350623 PMID:17392848 PMID:17407064 PMID:17526729 PMID:17576681 PMID:17640059 PMID:17661816 PMID:17688370 PMID:17700531 PMID:17898043 PMID:17906660 PMID:17919893 PMID:17922902 PMID:17967880 PMID:17992257 PMID:17997830 PMID:18067796 PMID:18195360 PMID:18205710 PMID:18209888 PMID:18446368 PMID:18544564 PMID:18551016 PMID:18567581 PMID:18580449 PMID:18584357 PMID:18676741 PMID:18685280 PMID:18836774 PMID:19009041 PMID:19029228 PMID:19030229 PMID:19096585 PMID:19215943 PMID:19228690 PMID:19252526 PMID:19258401 PMID:19270817 PMID:19280651 PMID:19293973 PMID:19304954 PMID:19309509 PMID:19333546 PMID:19336503 PMID:19408298 PMID:19464396 PMID:19494350 PMID:19574279 PMID:19576851 PMID:19602254 PMID:19620968 PMID:19694021 PMID:19734639 PMID:19755989 PMID:19763184 PMID:19764026 PMID:19808854 PMID:19906784 PMID:19949673 PMID:19958924 PMID:19996202 PMID:20034980 PMID:20054297 PMID:20064270 PMID:20120764 PMID:20151405 PMID:20223044 PMID:20233476 PMID:20300531 PMID:20351605 PMID:20388653 PMID:20447124 PMID:20518900 PMID:20560986 PMID:20567917 PMID:20583150 PMID:20660572 PMID:20844582 PMID:20846682 PMID:20850701 PMID:20855504 PMID:20952280 PMID:20978319 PMID:21204227 PMID:21258414 PMID:21362373 PMID:21384277 PMID:21386872 PMID:21389259 PMID:21454469 PMID:21461997 PMID:21463266 PMID:21606165 PMID:21685897 PMID:21713522 PMID:21715564 PMID:21784903 PMID:21791076 PMID:21876117 PMID:21972040 PMID:21993671 PMID:22071692 PMID:22105611 PMID:22105711 PMID:22145147 PMID:22156657 PMID:22234250 PMID:22241717 PMID:22265326 PMID:22357542 PMID:22393103 PMID:22438210 PMID:22462637 PMID:22517557 PMID:22566194 PMID:22649785 PMID:22683710 PMID:22703879 PMID:22799452 PMID:22825683 PMID:23015148 PMID:23036577 PMID:23070752 PMID:23102223 PMID:23143947 PMID:23224817 PMID:23298237 PMID:23315997 PMID:23318261 PMID:23327821 PMID:23384228 PMID:23397066 PMID:23403324 PMID:23434161 PMID:23512077 PMID:23541568 PMID:23606570 PMID:23626751 PMID:23660872 PMID:23673869 PMID:23772956 PMID:23788753 PMID:23840444 PMID:23842656 PMID:23845641 PMID:23859443 PMID:23968328 PMID:23990664 PMID:23990666 PMID:24002598 PMID:24033266 PMID:24055113 PMID:24102379 PMID:24112165 PMID:24115288 PMID:24132471 PMID:24134185 PMID:24147197 PMID:24166983 PMID:24206762 PMID:24301059 PMID:24335534 PMID:24339559 PMID:24446253 PMID:24466223 PMID:24555745 PMID:24581539 PMID:24583008 PMID:24678776 PMID:24707167 PMID:24727139 PMID:24728327 PMID:24729484 PMID:24779271 PMID:24969085 PMID:24977658 PMID:24986515 PMID:25078357 PMID:25081542 PMID:25119015 PMID:25157968 PMID:25282218 PMID:25310726 PMID:25371412 PMID:25405498 PMID:25557216 PMID:25562111 PMID:25563310 PMID:25583177 PMID:25586603 PMID:25637381 PMID:25683602 PMID:25715769 PMID:25720320 PMID:25741868 PMID:25773797 PMID:25825477 PMID:25867206 PMID:25885250 PMID:25952756 PMID:25966224 PMID:25985138 PMID:26206375 PMID:26211615 PMID:26228213 PMID:26268347 PMID:26308528 PMID:26323595 PMID:26332594 PMID:26467025 PMID:26484545 PMID:26503325 PMID:26580448 PMID:26622630 PMID:26681312 PMID:26763786 PMID:26822237 PMID:26845104 PMID:26846855 PMID:26920352 PMID:26934580 PMID:26957611 PMID:26973240 PMID:27034144 PMID:27057652 PMID:27146957 PMID:27179072 PMID:27311873 PMID:27439424 PMID:27498913 PMID:27517496 PMID:27527340 PMID:27530247 PMID:27539324 PMID:27617348 PMID:27651169 PMID:27730413 PMID:27785399 PMID:27811160 PMID:28043156 PMID:28052007 PMID:28202063 PMID:28235946 PMID:28349240 PMID:28379443 PMID:28388566 PMID:28432847 PMID:28454591 PMID:28469506 PMID:28492532 PMID:28503092 PMID:28643803 PMID:28650583 PMID:28724667 PMID:28775317 PMID:28781534 PMID:28849724 PMID:28873162 PMID:28944243 PMID:28951115 PMID:28973655 PMID:29022557 PMID:29124493 PMID:29294023 PMID:29437867 PMID:29510814 PMID:29595810 PMID:29607586 PMID:29616089 PMID:29625052 PMID:29662268 PMID:29684080 PMID:29748190 PMID:29758562 PMID:29789510 PMID:29790589 PMID:29871882 PMID:29891534 PMID:29946849 PMID:29949369 PMID:29978187 PMID:30006056 PMID:30042107 PMID:30093976 PMID:30105105 PMID:30185211 PMID:30194449 PMID:30278534 PMID:30338240 PMID:30522901 PMID:30877234 PMID:30890701 PMID:30900640 PMID:30902965 PMID:30943211 PMID:30946460 PMID:31034483 PMID:31087189 PMID:31132167 PMID:31149315 PMID:31159747 PMID:31278746 PMID:31337753 PMID:31350093 PMID:31368132 PMID:31383958 PMID:31397861 PMID:31447099 PMID:31528828 PMID:31538058 PMID:31620170 PMID:31666924 PMID:31779674 PMID:31980715 PMID:32106822 PMID:32238909 PMID:32671223 PMID:32869749 PMID:33004005 PMID:33151962 PMID:33219105 PMID:33362715 PMID:33397040 PMID:33618821 PMID:33720516 PMID:33840814 PMID:33938902 PMID:34036514 PMID:34109129 PMID:34122352 PMID:34416425 PMID:34439168 PMID:34439371 PMID:34566400 PMID:34571962 PMID:34628056 PMID:34994648 PMID:35008334 PMID:35032816 PMID:35448166 PMID:35466127 PMID:35475554 PMID:35505422 PMID:35668420 PMID:35734542 PMID:36384467 PMID:36480544 PMID:36625343 PMID:38020566 PMID:38595826 More...
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NCBI chr 3:10,141,778...10,153,667
Ensembl chr 3:10,141,778...10,153,676
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G |
TMTC4 |
transmembrane O-mannosyltransferase targeting cadherins 4 |
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IAGP |
ClinVar Annotator: match by term: Worster-Drought syndrome |
ClinVar |
PMID:24375697 |
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NCBI chr13:100,603,625...100,675,075
Ensembl chr13:100,603,625...100,675,093
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