RGD DISEASE ONTOLOGY - ANNOTATIONS |
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RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
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Term: | Central Nervous System Neoplasms |
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Accession: | DOID:9007701
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browse the term
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Definition: | Benign and malignant neoplastic processes that arise from or secondarily involve the brain, spinal cord, or meninges. |
Synonyms: | exact_synonym: | central nervous system tumor; central nervous system tumors; neoplasm of central nervous system; neoplasm of the central nervous system; primary central nervous system neoplasms |
| primary_id: | MESH:D016543 |
| xref: | EFO:1000158; NCI:C9293 |
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Bap1 |
BRCA1 associated deubiquitinase 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25231345 |
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NCBI chr16:6,446,709...6,455,535
Ensembl chr16:6,446,709...6,455,535
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Pdcd10 |
programmed cell death 10 |
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ISO |
multiple dural lesions associated with cerebral cavernous malformation 3;DNA:nonsense mutation, splice site mutations, deletion:CDS, intron:multiple (human) |
RGD |
PMID:19506228 |
RGD:401827110 |
NCBI chr 2:160,303,465...160,346,086
Ensembl chr 2:160,303,449...160,346,018
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Smarcb1 |
SWI/SNF related BAF chromatin remodeling complex subunit B1 |
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ISO |
ClinVar Annotator: match by term: Neoplasm of the central nervous system |
ClinVar |
PMID:25741868 |
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NCBI chr20:12,741,164...12,763,616
Ensembl chr20:12,741,477...12,763,620
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Tp53 |
tumor protein p53 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26192916 |
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NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
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Aip |
aryl-hydrocarbon receptor-interacting protein |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Pituitary adenoma, acth-secreting, somatic |
CTD ClinVar |
PMID:17360484 PMID:18381572 PMID:19366855 PMID:20506337 PMID:20530095 PMID:21454441 PMID:21753072 PMID:22319033 PMID:22720333 PMID:23300914 PMID:23321498 PMID:23633209 PMID:24033266 PMID:25093619 PMID:25184284 PMID:25203624 PMID:25333069 PMID:25741868 PMID:27153395 PMID:28492532 PMID:29074612 PMID:30461320 PMID:32324286 More...
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NCBI chr 1:201,408,002...201,419,220
Ensembl chr 1:201,407,288...201,419,122
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Avpr1b |
arginine vasopressin receptor 1B |
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ISO |
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RGD |
PMID:23884782 |
RGD:14700670 |
NCBI chr13:43,046,531...43,059,046
Ensembl chr13:43,046,267...43,057,792
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Bmp4 |
bone morphogenetic protein 4 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16195406 |
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NCBI chr15:19,618,538...19,633,494
Ensembl chr15:19,618,542...19,623,306
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Usp8 |
ubiquitin specific peptidase 8 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD OMIM |
PMID:25485838 |
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NCBI chr 3:113,962,136...114,009,683
Ensembl chr 3:113,962,164...114,009,666
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Mmp1 |
matrix metallopeptidase 1 |
susceptibility |
ISO |
DNA:insertion:promoter:g.-1607insG (human) |
RGD |
PMID:17502998 |
RGD:7207034 |
NCBI chr 8:4,658,588...4,679,099
Ensembl chr 8:4,658,588...4,679,097
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Mki67 |
marker of proliferation Ki-67 |
severity |
ISO |
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RGD |
PMID:21696422 |
RGD:6483520 |
NCBI chr 1:190,496,319...190,522,983
Ensembl chr 1:190,496,319...190,522,762
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Chd6 |
chromodomain helicase DNA binding protein 6 |
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ISO |
ClinVar Annotator: match by term: Adult spinal cord ependymoma |
ClinVar |
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NCBI chr 3:149,596,509...149,757,765
Ensembl chr 3:149,596,509...149,757,755
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Atrx |
ATRX, chromatin remodeler |
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ISO |
ClinVar Annotator: match by term: Astrocytoma, anaplastic |
ClinVar |
PMID:7697714 PMID:8968741 PMID:18414213 PMID:22995991 PMID:24082139 PMID:24728327 PMID:25741868 PMID:26467025 PMID:28293299 PMID:28492530 PMID:28492532 PMID:29304373 PMID:29602769 PMID:29910053 More...
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NCBI chr X:70,850,981...70,997,330
Ensembl chr X:70,850,981...70,997,330
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Kras |
KRAS proto-oncogene, GTPase |
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ISO |
mRNA:decreased expression:brain |
RGD |
PMID:19179066 |
RGD:13702872 |
NCBI chr 4:178,185,418...178,218,484
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Tp53 |
tumor protein p53 |
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ISO |
ClinVar Annotator: match by term: Astrocytoma, anaplastic |
ClinVar |
PMID:1349175 PMID:1565143 PMID:1565144 PMID:1591732 PMID:1631137 PMID:2046748 PMID:4122735 PMID:7565304 PMID:7783166 PMID:8401536 PMID:8402598 PMID:8425176 PMID:8550239 PMID:8718514 PMID:8829627 PMID:9218725 PMID:9242456 PMID:9364015 PMID:9667734 PMID:10519380 PMID:10922393 PMID:11370630 PMID:11782540 PMID:12826609 PMID:12885464 PMID:12917626 PMID:15722483 PMID:15781620 PMID:15925506 PMID:15951970 PMID:15958617 PMID:16206219 PMID:16401470 PMID:16494995 PMID:16551709 PMID:16818505 PMID:17015838 PMID:17311302 PMID:17606709 PMID:18511570 PMID:19012332 PMID:19468865 PMID:20128691 PMID:20407015 PMID:20522432 PMID:21059199 PMID:21305319 PMID:21343334 PMID:21519010 PMID:21761402 PMID:22186996 PMID:22672556 PMID:22915647 PMID:23161690 PMID:23246812 PMID:23538418 PMID:24033266 PMID:24122735 PMID:24573247 PMID:24835218 PMID:24857548 PMID:25157968 PMID:25186627 PMID:25584008 PMID:25619955 PMID:25741868 PMID:25952993 PMID:26014290 PMID:26205489 PMID:26225655 PMID:26230955 PMID:26585234 PMID:26619011 PMID:26786923 PMID:26845104 PMID:26878390 PMID:26911350 PMID:27077130 PMID:27276561 PMID:27463065 PMID:27621308 PMID:27680515 PMID:27895058 PMID:27959731 PMID:28369373 PMID:28472496 PMID:28492532 PMID:28975465 PMID:29581140 PMID:29979965 PMID:30224644 PMID:30327374 PMID:30709381 PMID:30816478 PMID:32000721 PMID:32156018 PMID:32475984 PMID:32817165 PMID:32888145 PMID:33163847 PMID:33245408 PMID:33407742 PMID:33840814 PMID:34529667 PMID:34709361 PMID:35974385 PMID:36988593 More...
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NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
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Palb2 |
partner and localizer of BRCA2 |
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ISO |
ClinVar Annotator: match by term: Anaplastic ependymoma |
ClinVar |
PMID:21285249 PMID:25085752 PMID:25741868 PMID:26315354 PMID:26467025 PMID:26580448 PMID:26689913 PMID:27616075 PMID:28492532 PMID:28678401 PMID:31636395 PMID:33471991 More...
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NCBI chr 1:176,665,076...176,689,053
Ensembl chr 1:176,665,076...176,688,990
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Rnf213 |
ring finger protein 213 |
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ISO |
ClinVar Annotator: match by term: Anaplastic ependymoma |
ClinVar |
PMID:26822237 |
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NCBI chr10:104,656,329...104,755,669
Ensembl chr10:104,656,883...104,757,918
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Runx1 |
RUNX family transcription factor 1 |
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ISO |
ClinVar Annotator: match by term: Anaplastic ependymoma |
ClinVar |
PMID:23753029 PMID:25741868 PMID:26580448 PMID:28492532 PMID:28801348 PMID:29365323 More...
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NCBI chr11:31,839,880...32,074,427
Ensembl chr11:31,843,764...32,074,542
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Cic |
capicua transcriptional repressor |
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ISO |
ClinVar Annotator: match by term: Anaplastic oligodendroglioma |
ClinVar |
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NCBI chr 1:80,853,920...80,880,537
Ensembl chr 1:80,853,920...80,880,532
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Acvrl1 |
activin A receptor like type 1 |
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ISS |
OMIM:108010 |
MouseDO |
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NCBI chr 7:132,239,200...132,256,592
Ensembl chr 7:132,239,729...132,256,591
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Adgrv1 |
adhesion G protein-coupled receptor V1 |
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ISO |
ClinVar Annotator: match by term: Cerebral arteriovenous malformation |
ClinVar |
PMID:25741868 |
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NCBI chr 2:11,331,434...11,911,713
Ensembl chr 2:11,331,442...11,911,688
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Braf |
B-Raf proto-oncogene, serine/threonine kinase |
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ISO |
ClinVar Annotator: match by term: Arteriovenous malformations of the brain | ClinVar Annotator: match by term: Cerebral arteriovenous malformation |
ClinVar |
PMID:12068308 PMID:12198537 PMID:12447372 PMID:12460918 PMID:12460919 PMID:12619120 PMID:12644542 PMID:12670889 PMID:12794760 PMID:12960123 PMID:14513361 PMID:14602780 PMID:14679157 PMID:15001635 PMID:15035987 PMID:15126572 PMID:15181070 PMID:15342696 PMID:15356022 PMID:15386408 PMID:15687339 PMID:15998781 PMID:16015629 PMID:16174717 PMID:16187918 PMID:16772349 PMID:17374713 PMID:17488796 PMID:17785355 PMID:18398503 PMID:19001320 PMID:19010912 PMID:19018267 PMID:19238210 PMID:19404918 PMID:19537845 PMID:19561230 PMID:19571295 PMID:20350999 PMID:20413299 PMID:20619739 PMID:20630094 PMID:20818844 PMID:20823850 PMID:20857202 PMID:21107320 PMID:21107323 PMID:21129611 PMID:21156289 PMID:21163703 PMID:21426297 PMID:21483012 PMID:21639808 PMID:21683865 PMID:21975775 PMID:22038996 PMID:22039425 PMID:22048237 PMID:22113612 PMID:22180495 PMID:22281684 PMID:22351686 PMID:22356324 PMID:22389471 PMID:22448344 PMID:22536370 PMID:22586120 PMID:22608338 PMID:22649091 PMID:22663011 PMID:22735384 PMID:22743296 PMID:22773810 PMID:22805292 PMID:22972589 PMID:22997239 PMID:23020132 PMID:23031422 PMID:23251002 PMID:23302800 PMID:23325582 PMID:23470635 PMID:23524406 PMID:23549875 PMID:23614898 PMID:23685455 PMID:23812671 PMID:23833300 PMID:23845441 PMID:23918947 PMID:24107445 PMID:24163374 PMID:24388723 PMID:24508103 PMID:24512911 PMID:24576830 PMID:24583796 PMID:24586605 PMID:24594804 PMID:24670642 PMID:24717435 PMID:25024077 PMID:25079330 PMID:25157968 PMID:25370471 PMID:25741868 PMID:25950823 PMID:25989278 PMID:26619011 PMID:26678033 PMID:28854169 PMID:29925953 PMID:31891627 PMID:34476331 More...
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NCBI chr 4:68,375,484...68,510,652
Ensembl chr 4:68,384,649...68,510,463
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Cacna1h |
calcium voltage-gated channel subunit alpha1 H |
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ISO |
ClinVar Annotator: match by term: Cerebral arteriovenous malformation |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr10:14,390,104...14,448,204
Ensembl chr10:14,390,113...14,448,376
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Cdh2 |
cadherin 2 |
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ISO |
ClinVar Annotator: match by term: Cerebral arteriovenous malformation |
ClinVar |
PMID:25741868 |
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NCBI chr18:7,776,704...7,990,934
Ensembl chr18:7,776,704...7,990,167
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Egfr |
epidermal growth factor receptor |
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ISO |
ClinVar Annotator: match by term: Cerebral arteriovenous malformation |
ClinVar |
PMID:25741868 |
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NCBI chr14:91,176,979...91,349,722
Ensembl chr14:91,177,067...91,344,382
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Eng |
endoglin |
disease_progression |
ISO ISS |
DNA:polymorphism: : 207G>A(human) ClinVar Annotator: match by term: Cerebral arteriovenous malformation OMIM:108010 |
ClinVar MouseDO RGD |
PMID:15879500 PMID:25741868 PMID:28492532 PMID:30120215 PMID:24876084 PMID:24520391 More...
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RGD:11041171, RGD:11041564 |
NCBI chr 3:15,934,566...15,972,618
Ensembl chr 3:15,934,518...15,973,230
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Flt1 |
Fms related receptor tyrosine kinase 1 |
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ISO |
protein:increased expression:endothelial cell: |
RGD |
PMID:11220380 |
RGD:8551824 |
NCBI chr12:7,296,899...7,468,626
Ensembl chr12:7,297,292...7,468,626
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Gli2 |
GLI family zinc finger 2 |
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ISO |
ClinVar Annotator: match by term: Arteriovenous malformations of the brain |
ClinVar |
PMID:25741868 |
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NCBI chr13:29,946,882...30,163,589
Ensembl chr13:29,946,809...30,163,574
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Il17rd |
interleukin 17 receptor D |
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ISO |
ClinVar Annotator: match by term: Cerebral arteriovenous malformation |
ClinVar |
PMID:25636053 PMID:25741868 PMID:28492532 PMID:32389901 |
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NCBI chr16:2,228,438...2,295,122
Ensembl chr16:2,228,287...2,292,556
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Il6 |
interleukin 6 |
susceptibility |
ISO |
CTD Direct Evidence: marker/mechanism |
CTD OMIM |
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NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
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Kdr |
kinase insert domain receptor |
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ISO |
protein:increased expression:endothelial cell: |
RGD |
PMID:11220380 |
RGD:8551824 |
NCBI chr14:32,217,871...32,261,018
Ensembl chr14:32,217,871...32,261,018
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Kras |
KRAS proto-oncogene, GTPase |
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ISO ISS |
ClinVar Annotator: match by term: Arteriovenous malformations of the brain ClinVar Annotator: match by term: Arteriovenous malformations of the brain | ClinVar Annotator: match by term: Cerebral arteriovenous malformation OMIM:108010 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar MouseDO CTD |
PMID:2278970 PMID:3122217 PMID:7773929 PMID:8439212 PMID:12110640 PMID:12460918 PMID:12720172 PMID:14982869 PMID:15093544 PMID:15696205 PMID:15842656 PMID:16361624 PMID:16434492 PMID:16474404 PMID:16474405 PMID:16618717 PMID:16773572 PMID:17056636 PMID:17324647 PMID:17332249 PMID:17384584 PMID:17409930 PMID:17551339 PMID:17704260 PMID:17875937 PMID:17910045 PMID:18316791 PMID:18456719 PMID:18628094 PMID:18794081 PMID:19018267 PMID:19029981 PMID:19047918 PMID:19075190 PMID:19114683 PMID:19255327 PMID:19349489 PMID:19358724 PMID:19679400 PMID:19773371 PMID:19881948 PMID:20609353 PMID:20652921 PMID:20805368 PMID:20921462 PMID:20921465 PMID:20949522 PMID:20949621 PMID:21044336 PMID:21062266 PMID:21079152 PMID:21169357 PMID:21228335 PMID:21398618 PMID:21871821 PMID:21975775 PMID:22025163 PMID:22235099 PMID:22407852 PMID:22499344 PMID:22683711 PMID:22722830 PMID:22897852 PMID:23014527 PMID:23096712 PMID:23255105 PMID:23325582 PMID:23406027 PMID:24033266 PMID:24138715 PMID:24703799 PMID:24803665 PMID:25044103 PMID:25157968 PMID:25326637 PMID:25695684 PMID:25741868 PMID:26242988 PMID:26372703 PMID:26619011 PMID:28492532 PMID:29298116 PMID:29948256 PMID:30443000 PMID:31891627 PMID:35794233 More...
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NCBI chr 4:178,185,418...178,218,484
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Lemd3 |
LEM domain containing 3 |
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ISO |
ClinVar Annotator: match by term: Cerebral arteriovenous malformation |
ClinVar |
PMID:25741868 |
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NCBI chr 7:56,415,053...56,499,047
Ensembl chr 7:56,305,448...56,502,474
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Map4k4 |
mitogen-activated protein kinase kinase kinase kinase 4 |
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ISO |
ClinVar Annotator: match by term: Cerebral arteriovenous malformation |
ClinVar |
PMID:25741868 |
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NCBI chr 9:42,200,708...42,326,708
Ensembl chr 9:42,200,278...42,326,698
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Nlrp3 |
NLR family, pyrin domain containing 3 |
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ISO |
ClinVar Annotator: match by term: Cerebral arteriovenous malformation |
ClinVar |
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NCBI chr10:44,326,770...44,353,814
Ensembl chr10:44,328,566...44,352,811
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Notch4 |
notch receptor 4 |
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ISO ISS |
OMIM:108010 ClinVar Annotator: match by term: Cerebral arteriovenous malformation |
MouseDO ClinVar RGD |
PMID:25741868 PMID:27231971 PMID:19546852 |
RGD:6480671 |
NCBI chr20:4,160,362...4,184,466
Ensembl chr20:4,160,445...4,184,465
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Pdcd10 |
programmed cell death 10 |
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ISO |
ClinVar Annotator: match by term: Arteriovenous malformations of the brain |
ClinVar |
PMID:9536098 PMID:16329096 PMID:17576681 PMID:24466005 PMID:25122144 PMID:25741868 PMID:28492532 More...
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NCBI chr 2:160,303,465...160,346,086
Ensembl chr 2:160,303,449...160,346,018
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Pitpnm3 |
PITPNM family member 3 |
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ISO |
ClinVar Annotator: match by term: Cerebral arteriovenous malformation |
ClinVar |
PMID:25741868 |
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NCBI chr10:56,674,697...56,766,552
Ensembl chr10:56,676,261...56,766,584
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Prex2 |
phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 |
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ISO |
ClinVar Annotator: match by term: Cerebral arteriovenous malformation |
ClinVar |
PMID:25741868 |
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NCBI chr 5:7,937,692...8,253,112
Ensembl chr 5:7,942,573...8,253,068
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Sars1 |
seryl-tRNA synthetase 1 |
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ISO |
ClinVar Annotator: match by term: Cerebral arteriovenous malformation |
ClinVar |
PMID:25741868 |
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NCBI chr 2:196,065,543...196,081,240
Ensembl chr 2:196,065,430...196,081,277
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Scube2 |
signal peptide, CUB domain and EGF like domain containing 2 |
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ISO |
ClinVar Annotator: match by term: Cerebral arteriovenous malformation |
ClinVar |
PMID:25741868 |
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NCBI chr 1:163,831,876...163,899,925
Ensembl chr 1:163,832,015...163,899,393
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Syn3 |
synapsin III |
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ISO |
ClinVar Annotator: match by term: Cerebral arteriovenous malformation |
ClinVar |
PMID:25741868 |
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NCBI chr 7:16,216,055...17,808,790
Ensembl chr 7:17,376,372...17,808,790
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Timp3 |
TIMP metallopeptidase inhibitor 3 |
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ISO |
ClinVar Annotator: match by term: Cerebral arteriovenous malformation |
ClinVar |
PMID:25741868 |
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NCBI chr 7:17,520,827...17,571,850
Ensembl chr 7:17,521,919...17,571,839
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Vegfa |
vascular endothelial growth factor A |
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ISO |
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RGD |
PMID:16388189 |
RGD:1580567 |
NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641
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Zfyve16 |
zinc finger FYVE-type containing 16 |
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ISO |
ClinVar Annotator: match by term: Cerebral arteriovenous malformation |
ClinVar |
PMID:25741868 |
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NCBI chr 2:23,713,018...23,757,576
Ensembl chr 2:23,713,766...23,756,990
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Mir542 |
microRNA 542 |
disease_progression |
ISO |
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RGD |
PMID:26286747 |
RGD:13782052 |
NCBI chr X:132,802,623...132,802,701
Ensembl chr X:132,802,623...132,802,701
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Pik3r1 |
phosphoinositide-3-kinase regulatory subunit 1 |
severity |
ISO |
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RGD |
PMID:26956052 PMID:26286747 |
RGD:11343921, RGD:13782052 |
NCBI chr 2:32,878,942...32,963,668
Ensembl chr 2:32,882,032...32,963,631
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Pole |
DNA polymerase epsilon, catalytic subunit |
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ISO |
ClinVar Annotator: match by term: Neuroepithelial neoplasm |
ClinVar |
PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29987844 |
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NCBI chr12:46,345,420...46,393,984
Ensembl chr12:46,345,420...46,393,939
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Atm |
ATM serine/threonine kinase |
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ISO |
ClinVar Annotator: match by term: Astroblastoma, MN1-altered |
ClinVar |
PMID:17344846 PMID:20305132 PMID:25741868 PMID:25980754 PMID:26206375 PMID:26467025 PMID:26689913 PMID:26787654 PMID:28135145 PMID:28492532 PMID:28652578 PMID:28779002 PMID:30306255 PMID:30441849 PMID:31159747 PMID:31920950 PMID:32606146 PMID:33471991 PMID:34284872 PMID:35886069 More...
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NCBI chr 8:53,828,741...53,932,773
Ensembl chr 8:53,831,093...53,932,437
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G |
C8h11orf65 |
similar to human chromosome 11 open reading frame 65 |
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ISO |
ClinVar Annotator: match by term: Astroblastoma, MN1-altered |
ClinVar |
PMID:17344846 PMID:20305132 PMID:25741868 PMID:25980754 PMID:26206375 PMID:26467025 PMID:26689913 PMID:26787654 PMID:28135145 PMID:28492532 PMID:28652578 PMID:28779002 PMID:30306255 PMID:30441849 PMID:31159747 PMID:31920950 PMID:32606146 PMID:33471991 PMID:34284872 PMID:35886069 More...
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NCBI chr 8:53,796,033...53,825,277
Ensembl chr 8:53,796,366...53,824,748
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Tsc2 |
TSC complex subunit 2 |
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ISO |
ClinVar Annotator: match by term: Astroblastoma, MN1-altered |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr10:13,621,135...13,655,773
Ensembl chr10:13,621,136...13,655,951
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G |
Atrx |
ATRX, chromatin remodeler |
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ISO |
ClinVar Annotator: match by term: Atypical teratoid/rhabdoid tumor |
ClinVar |
PMID:7697714 PMID:8968741 PMID:18414213 PMID:22995991 PMID:24082139 PMID:24728327 PMID:25741868 PMID:26467025 PMID:28293299 PMID:28492530 PMID:28492532 PMID:29304373 PMID:29602769 PMID:29910053 More...
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NCBI chr X:70,850,981...70,997,330
Ensembl chr X:70,850,981...70,997,330
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G |
Gpc3 |
glypican 3 |
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ISO |
protein:increased expression:brain (human) |
RGD |
PMID:23530909 |
RGD:243065128 |
NCBI chr X:131,868,986...132,236,824
Ensembl chr X:131,868,990...132,236,798
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G |
Smarcb1 |
SWI/SNF related BAF chromatin remodeling complex subunit B1 |
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ISS ISO |
OMIM:609322 ClinVar Annotator: match by term: Teratoid tumor, atypical |
MouseDO ClinVar |
PMID:25741868 |
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NCBI chr20:12,741,164...12,763,616
Ensembl chr20:12,741,477...12,763,620
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G |
Tp53 |
tumor protein p53 |
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ISO |
ClinVar Annotator: match by term: Atypical teratoid/rhabdoid tumor |
ClinVar |
PMID:1565143 PMID:1591732 PMID:2046748 PMID:4122735 PMID:7565304 PMID:7783166 PMID:8550239 PMID:8718514 PMID:9218725 PMID:9242456 PMID:9364015 PMID:9667734 PMID:10519380 PMID:10922393 PMID:11370630 PMID:11782540 PMID:12826609 PMID:12885464 PMID:12917626 PMID:15722483 PMID:15781620 PMID:15925506 PMID:15951970 PMID:16401470 PMID:16494995 PMID:16551709 PMID:16818505 PMID:17015838 PMID:17311302 PMID:17606709 PMID:18511570 PMID:20128691 PMID:20407015 PMID:20522432 PMID:21343334 PMID:21519010 PMID:21761402 PMID:22186996 PMID:22915647 PMID:23246812 PMID:23538418 PMID:24033266 PMID:24122735 PMID:24835218 PMID:25157968 PMID:25741868 PMID:25952993 PMID:26205489 PMID:26225655 PMID:26230955 PMID:26585234 PMID:26619011 PMID:26786923 PMID:27276561 PMID:27463065 PMID:27621308 PMID:27680515 PMID:27895058 PMID:27959731 PMID:28492532 PMID:29979965 PMID:30224644 PMID:30327374 PMID:30816478 PMID:32000721 PMID:32156018 PMID:32817165 PMID:32888145 PMID:33163847 PMID:33245408 PMID:33840814 PMID:34529667 PMID:34709361 PMID:35974385 PMID:36988593 More...
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NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
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Atm |
ATM serine/threonine kinase |
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ISO |
ClinVar Annotator: match by term: Brain cancer |
ClinVar |
PMID:32885271 |
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NCBI chr 8:53,828,741...53,932,773
Ensembl chr 8:53,831,093...53,932,437
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G |
Hnrnpl |
heterogeneous nuclear ribonucleoprotein L |
susceptibility |
ISO |
associated with Precursor Cell Lymphoblastic Leukemia-Lymphoma;mRNA:decreased expression:bone marrow (human) |
RGD |
PMID:15543619 |
RGD:10002773 |
NCBI chr 1:84,098,558...84,111,568
Ensembl chr 1:84,100,879...84,111,553
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G |
Stk11 |
serine/threonine kinase 11 |
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ISO |
ClinVar Annotator: match by term: Brain cancer |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 7:9,574,553...9,591,315
Ensembl chr 7:9,575,269...9,591,315
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G |
Tert |
telomerase reverse transcriptase |
ameliorates |
ISO |
DNA:SNP:cds:rs2736100 (human) |
RGD |
PMID:26014354 |
RGD:152985535 |
NCBI chr 1:29,637,213...29,659,561
Ensembl chr 1:29,637,506...29,659,561
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G |
Eef2 |
eukaryotic translation elongation factor 2 |
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ISO |
protein:increased expression:brain (human) |
RGD |
PMID:24589652 |
RGD:153297816 |
NCBI chr 7:8,533,248...8,538,518
Ensembl chr 7:8,533,116...8,559,183
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G |
Mir139 |
microRNA 139 |
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ISO |
RNA:decreased expression:brain: |
RGD |
PMID:26449464 |
RGD:13838722 |
NCBI chr 1:155,878,828...155,878,895
Ensembl chr 1:155,878,825...155,878,902
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G |
Ncam1 |
neural cell adhesion molecule 1 |
disease_progression |
ISO |
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RGD |
PMID:20219118 |
RGD:40924672 |
NCBI chr 8:49,865,629...50,165,687
Ensembl chr 8:49,865,633...50,166,014
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G |
Sufu |
SUFU negative regulator of hedgehog signaling |
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IEP |
human, rat, and/or mouse glioma cells in a mouse model |
RGD |
PMID:30790292 |
RGD:150573813 |
NCBI chr 1:245,257,725...245,355,576
Ensembl chr 1:245,257,768...245,355,577
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G |
Adam3a |
ADAM metallopeptidase domain 3A |
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ISO |
DNA:deletion |
RGD |
PMID:21138945 |
RGD:13831351 |
NCBI chr16:67,299,949...67,349,970
Ensembl chr16:67,299,949...67,349,968
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G |
Bax |
BCL2 associated X, apoptosis regulator |
treatment |
IEP IDA |
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RGD |
PMID:27255231 PMID:29324390 |
RGD:13792502, RGD:13792598 |
NCBI chr 1:95,940,001...95,945,407
Ensembl chr 1:95,938,808...95,945,368
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G |
Bcl2 |
BCL2, apoptosis regulator |
treatment |
IEP IDA |
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RGD |
PMID:27255231 PMID:29324390 |
RGD:13792502, RGD:13792598 |
NCBI chr13:22,689,783...22,853,920
Ensembl chr13:22,684,989...22,853,743 Ensembl chr13:22,684,989...22,853,743
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G |
Birc3 |
baculoviral IAP repeat-containing 3 |
exacerbates |
ISO |
mRNA:increased expression:brain (human) |
RGD |
PMID:31964418 |
RGD:153344516 |
NCBI chr 8:5,000,844...5,028,470
Ensembl chr 8:5,000,845...5,015,802
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G |
Birc5 |
baculoviral IAP repeat-containing 5 |
exacerbates |
ISO |
mRNA:increased expression:brain (human) |
RGD |
PMID:31964418 |
RGD:153344516 |
NCBI chr10:103,072,530...103,081,382
Ensembl chr10:103,073,408...103,081,380
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G |
Bst2 |
bone marrow stromal cell antigen 2 |
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ISO |
mRNA,protein:increased expression:brain: |
RGD |
PMID:21565182 |
RGD:14398497 |
NCBI chr16:18,216,605...18,220,979
Ensembl chr16:18,217,407...18,220,979
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G |
Casp3 |
caspase 3 |
treatment |
IDA |
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RGD |
PMID:29324390 |
RGD:13792598 |
NCBI chr16:45,662,910...45,681,171
Ensembl chr16:45,662,910...45,684,648
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G |
Fadd |
Fas associated via death domain |
treatment |
IEP |
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RGD |
PMID:27255231 |
RGD:13792502 |
NCBI chr 1:199,743,200...199,745,746
Ensembl chr 1:199,739,994...199,745,653
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G |
Fas |
Fas cell surface death receptor |
treatment |
IDA |
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RGD |
PMID:29324390 |
RGD:13792598 |
NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591
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G |
Faslg |
Fas ligand |
treatment |
IDA |
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RGD |
PMID:29324390 |
RGD:13792598 |
NCBI chr13:74,151,519...74,172,760
Ensembl chr13:74,154,954...74,162,215
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G |
Foxa1 |
forkhead box A1 |
disease_progression |
ISO |
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RGD |
PMID:23510544 |
RGD:151665742 |
NCBI chr 6:75,099,907...75,136,534
Ensembl chr 6:75,103,503...75,136,188
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G |
Gapdh |
glyceraldehyde-3-phosphate dehydrogenase |
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IEP |
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RGD |
PMID:26032618 |
RGD:13792685 |
NCBI chr 4:157,962,312...157,967,158
Ensembl chr 4:157,962,343...157,966,235
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G |
Kdr |
kinase insert domain receptor |
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ISO |
protein:increased expression:brain (human) |
RGD |
PMID:33900414 |
RGD:151660356 |
NCBI chr14:32,217,871...32,261,018
Ensembl chr14:32,217,871...32,261,018
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G |
Mir21 |
microRNA 21 |
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ISO |
human cells in mouse model; RNA:increased expression:brain (human) |
RGD |
PMID:25059666 |
RGD:152998875 |
NCBI chr10:71,405,257...71,405,348
Ensembl chr10:71,405,257...71,405,348
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G |
Naip6 |
NLR family, apoptosis inhibitory protein 6 |
exacerbates |
ISO |
mRNA:increased expression:brain (human) |
RGD |
PMID:31964418 |
RGD:153344516 |
NCBI chr 2:31,507,423...31,559,098
Ensembl chr 2:31,507,424...31,570,542
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G |
Ptprb |
protein tyrosine phosphatase, receptor type, B |
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ISO |
protein:increased expression:brain (human) human cell in mouse model |
RGD |
PMID:33900414 PMID:16923162 |
RGD:151660356, RGD:151660368 |
NCBI chr 7:51,953,375...52,034,751
Ensembl chr 7:51,930,015...52,034,748
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G |
Vegfa |
vascular endothelial growth factor A |
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ISO |
protein:increased expression:brain (human) |
RGD |
PMID:33900414 |
RGD:151660356 |
NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641
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G |
Xrcc1 |
X-ray repair cross complementing 1 |
susceptibility |
ISO |
DNA:SNP:exon 10: p.R399Q (human) |
RGD |
PMID:18330515 |
RGD:401827274 |
NCBI chr 1:80,140,495...80,168,705
Ensembl chr 1:80,141,207...80,168,701
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G |
Xrcc3 |
X-ray repair cross complementing 3 |
susceptibility |
ISO |
DNA:SNP:exon 8: p.T241M (rs861539) (Human) |
RGD |
PMID:18330515 |
RGD:401827274 |
NCBI chr 6:130,863,405...130,873,765
Ensembl chr 6:130,863,959...130,872,444
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G |
Acrbp |
acrosin binding protein |
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ISO |
ClinVar Annotator: match by term: Neoplasm of brain |
ClinVar |
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NCBI chr 4:157,851,149...157,864,211
Ensembl chr 4:157,841,841...157,864,213
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G |
Alk |
ALK receptor tyrosine kinase |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Neoplasm of brain |
CTD ClinVar |
PMID:18724359 PMID:18923523 PMID:18923524 PMID:18923525 PMID:21242967 PMID:21838707 PMID:22071890 PMID:22072639 PMID:22932897 PMID:22986231 PMID:23334666 PMID:24205241 PMID:25517749 PMID:25741868 PMID:26619011 PMID:26829053 PMID:28492532 PMID:28873162 PMID:29489754 PMID:30004444 PMID:30350464 PMID:30605844 More...
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NCBI chr 6:22,879,653...23,599,636
Ensembl chr 6:22,880,625...23,598,034
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G |
Amot |
angiomotin |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27935819 |
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NCBI chr X:108,982,399...109,041,265
Ensembl chr X:108,984,022...109,041,272
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G |
Atm |
ATM serine/threonine kinase |
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ISO |
ClinVar Annotator: match by term: Malignant brain neoplasm |
ClinVar |
PMID:32885271 |
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NCBI chr 8:53,828,741...53,932,773
Ensembl chr 8:53,831,093...53,932,437
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G |
Braf |
B-Raf proto-oncogene, serine/threonine kinase |
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ISO |
ClinVar Annotator: match by term: Brain Neoplasms | ClinVar Annotator: match by term: Neoplasm of 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:14612909 PMID:14679157 PMID:14688025 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:17096326 PMID:17119447 PMID:17311103 PMID:17374713 PMID:17488796 PMID:17785355 PMID:18368129 PMID:18398503 PMID:18794803 PMID:19001320 PMID:19010912 PMID:19018267 PMID:19238210 PMID:19383316 PMID:19404918 PMID:19537845 PMID:19561230 PMID:19571295 PMID:19913317 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:22310681 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:23352452 PMID:23470635 PMID:23524406 PMID:23549875 PMID:23614898 PMID:23685455 PMID:23812671 PMID:23833300 PMID:23845441 PMID:23918947 PMID:24033266 PMID:24107445 PMID:24163374 PMID:24388723 PMID:24508103 PMID:24512911 PMID:24576830 PMID:24583796 PMID:24586605 PMID:24594804 PMID:24670642 PMID:24717435 PMID:25024077 PMID:25079330 PMID:25157968 PMID:25370471 PMID:25741868 PMID:25950823 PMID:25989278 PMID:26619011 PMID:26678033 PMID:28492532 PMID:28854169 PMID:29595366 PMID:29925953 PMID:31891627 PMID:34476331 More...
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NCBI chr 4:68,375,484...68,510,652
Ensembl chr 4:68,384,649...68,510,463
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G |
Ccnd1 |
cyclin D1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20932960 PMID:27935819 |
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NCBI chr 1:200,089,002...200,098,524
Ensembl chr 1:200,089,002...200,098,602
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G |
Cdk4 |
cyclin-dependent kinase 4 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20932960 |
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NCBI chr 7:62,886,124...62,889,562
Ensembl chr 7:62,883,105...62,942,403
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G |
Cdkn2a |
cyclin-dependent kinase inhibitor 2A |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15144691 PMID:16860786 |
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NCBI chr 5:103,984,949...103,992,143
Ensembl chr 5:103,984,949...104,003,149
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G |
Ctnnb1 |
catenin beta 1 |
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ISO |
ClinVar Annotator: match by term: Brain Neoplasms | ClinVar Annotator: match by term: Neoplasm of brain |
ClinVar |
PMID:25157968 PMID:26619011 PMID:26822237 |
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NCBI chr 8:120,640,008...120,667,110
Ensembl chr 8:120,639,995...120,667,111
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G |
Dapk1 |
death associated protein kinase 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17319784 |
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NCBI chr17:3,930,223...4,090,991
Ensembl chr17:3,930,213...4,090,991
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G |
Dll1 |
delta like canonical Notch ligand 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21127729 |
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NCBI chr 1:56,312,062...56,320,177
Ensembl chr 1:56,312,066...56,320,179
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G |
Dtx2 |
deltex E3 ubiquitin ligase 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21127729 |
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NCBI chr12:20,643,289...20,682,908
Ensembl chr12:20,643,297...20,682,885
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G |
Dut |
deoxyuridine triphosphatase |
severity |
ISO |
protein:increased expression:tumor (human) |
RGD |
PMID:16325515 |
RGD:5133680 |
NCBI chr 3:112,498,864...112,509,994
Ensembl chr 3:112,498,982...112,510,771
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G |
Egfr |
epidermal growth factor receptor |
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ISO |
ClinVar Annotator: match by term: Brain Neoplasms | ClinVar Annotator: match by term: Neoplasm of brain |
ClinVar |
PMID:17177598 PMID:26619011 PMID:28492532 |
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NCBI chr14:91,176,979...91,349,722
Ensembl chr14:91,177,067...91,344,382
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G |
Eml4 |
EMAP like 4 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22986231 |
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NCBI chr 6:11,219,545...11,334,824
Ensembl chr 6:11,219,566...11,334,879
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G |
Fjx1 |
four-jointed box kinase 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27935819 |
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NCBI chr 3:88,774,220...88,776,321
Ensembl chr 3:88,774,220...88,776,321
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G |
H3f3a |
H3.3 histone A |
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ISO |
ClinVar Annotator: match by term: Neoplasm of brain |
ClinVar |
PMID:26619011 |
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NCBI chr13:92,533,289...92,544,902
Ensembl chr13:92,533,298...92,544,908
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G |
Hes5 |
hes family bHLH transcription factor 5 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21127729 |
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NCBI chr 5:165,522,138...165,523,684
Ensembl chr 5:165,522,234...165,523,001
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G |
Hras |
HRas proto-oncogene, GTPase |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27935819 |
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NCBI chr 1:196,290,127...196,299,823
Ensembl chr 1:196,296,263...196,300,615
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G |
Idh1 |
isocitrate dehydrogenase (NADP(+)) 1 |
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ISO |
ClinVar Annotator: match by term: Brain neoplasm ClinVar Annotator: match by term: Brain Neoplasms |
ClinVar |
PMID:18772396 PMID:19657110 PMID:19798509 PMID:19818334 PMID:20946881 PMID:21352804 PMID:21446021 PMID:22160010 PMID:22397365 PMID:22417203 PMID:22898539 PMID:23558169 PMID:24606448 PMID:25043048 PMID:25157968 PMID:25741868 PMID:26619011 PMID:27993330 PMID:30231226 PMID:36201590 More...
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NCBI chr 9:66,534,146...66,563,703
Ensembl chr 9:66,534,146...66,563,708
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G |
Idh2 |
isocitrate dehydrogenase (NADP(+)) 2 |
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ISO |
ClinVar Annotator: match by term: Brain Neoplasms |
ClinVar |
PMID:20946881 PMID:21250968 PMID:21596855 PMID:21997850 PMID:22160010 PMID:22397365 PMID:22417203 PMID:22616558 PMID:22898539 PMID:23949315 PMID:24606448 PMID:25157968 PMID:26619011 More...
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NCBI chr 1:134,038,644...134,057,969
Ensembl chr 1:134,029,772...134,058,025
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G |
Il2 |
interleukin 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:6319491 |
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NCBI chr 2:120,004,862...120,009,566
Ensembl chr 2:120,004,862...120,009,566
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G |
Iqgap1 |
IQ motif containing GTPase activating protein 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27935819 |
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NCBI chr 1:134,679,581...134,769,776
Ensembl chr 1:134,679,586...134,769,755
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G |
Iqgap2 |
IQ motif containing GTPase activating protein 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27935819 |
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NCBI chr 2:26,894,836...27,170,270
Ensembl chr 2:26,894,825...27,170,279
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G |
Itgb2 |
integrin subunit beta 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27935819 |
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NCBI chr20:11,061,394...11,097,656
Ensembl chr20:11,061,430...11,097,600
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G |
Mgmt |
O-6-methylguanine-DNA methyltransferase |
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ISO |
associated with Neoplasm Metastasis; DNA:hypermethylation:promoter (human) CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:20131314 PMID:19274096 |
RGD:2317681 |
NCBI chr 1:191,710,980...191,937,760
Ensembl chr 1:191,710,930...191,937,756
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G |
Nf1 |
neurofibromin 1 |
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ISO |
ClinVar Annotator: match by term: Neoplasm of brain |
ClinVar |
PMID:10712197 PMID:16199547 PMID:23913538 PMID:25741868 PMID:28492532 |
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NCBI chr10:64,306,027...64,539,112
Ensembl chr10:64,306,301...64,536,658
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G |
Nrarp |
Notch-regulated ankyrin repeat protein |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21127729 |
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NCBI chr 3:7,992,582...7,995,136
Ensembl chr 3:7,992,552...7,995,133
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G |
Nras |
NRAS proto-oncogene, GTPase |
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ISO |
ClinVar Annotator: match by term: Brain Neoplasms |
ClinVar |
PMID:1654209 PMID:2278970 PMID:2674680 PMID:3122217 PMID:6587382 PMID:8120410 PMID:10821536 PMID:12460918 PMID:12727991 PMID:14508525 PMID:15899789 PMID:16273091 PMID:16291983 PMID:16434492 PMID:17699718 PMID:18390968 PMID:18633438 PMID:18668139 PMID:18948947 PMID:19075190 PMID:19657110 PMID:19880792 PMID:19966803 PMID:20130576 PMID:20149136 PMID:20179705 PMID:20406486 PMID:20619739 PMID:20736745 PMID:21107323 PMID:21305640 PMID:21576590 PMID:21729679 PMID:21829508 PMID:22407852 PMID:22499344 PMID:22718121 PMID:22761467 PMID:22773810 PMID:23076151 PMID:23392294 PMID:23400451 PMID:23414587 PMID:23515407 PMID:23538902 PMID:23569304 PMID:23614898 PMID:24006476 PMID:24033266 PMID:24148783 PMID:24370118 PMID:24671188 PMID:25157968 PMID:25348872 PMID:25695684 PMID:25741868 PMID:26619011 PMID:26821351 PMID:27050078 PMID:28492532 PMID:28780248 More...
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NCBI chr 2:190,582,885...190,593,509
Ensembl chr 2:190,582,918...190,591,626
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G |
Pcna |
proliferating cell nuclear antigen |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20932960 |
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NCBI chr 3:119,499,039...119,502,911
Ensembl chr 3:119,498,810...119,502,995
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G |
Pik3ca |
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha |
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ISO |
ClinVar Annotator: match by term: Brain Neoplasms | ClinVar Annotator: match by term: Neoplasm of brain |
ClinVar |
PMID:15016963 PMID:15254419 PMID:15520168 PMID:15608678 PMID:15647370 PMID:15805248 PMID:15930273 PMID:16353168 PMID:16906227 PMID:16930767 PMID:17376864 PMID:17673550 PMID:18074223 PMID:18371219 PMID:18676830 PMID:18725974 PMID:19029981 PMID:19223544 PMID:19366826 PMID:19513541 PMID:19671852 PMID:19903786 PMID:20177704 PMID:20453058 PMID:20581867 PMID:20593314 PMID:20619739 PMID:21078999 PMID:21430269 PMID:21558396 PMID:21824802 PMID:22120714 PMID:22162582 PMID:22162589 PMID:22209294 PMID:22271473 PMID:22357840 PMID:22370636 PMID:22658544 PMID:22729222 PMID:22729223 PMID:22729224 PMID:22949682 PMID:23066039 PMID:23100325 PMID:23246288 PMID:23408298 PMID:23888070 PMID:23946963 PMID:24033266 PMID:24265155 PMID:24559322 PMID:24782230 PMID:25157968 PMID:25599672 PMID:25681199 PMID:25741868 PMID:25880439 PMID:26266975 PMID:26266985 PMID:26619011 PMID:26627007 PMID:26637981 PMID:26822237 PMID:26851524 PMID:27126994 PMID:27283355 PMID:27626068 PMID:27631024 PMID:28151489 PMID:28425981 PMID:28492532 PMID:29446767 PMID:29661094 PMID:29758562 PMID:29988677 PMID:30063105 PMID:30376034 PMID:30543347 PMID:31536475 PMID:31775759 PMID:32778138 PMID:34008892 PMID:34496175 PMID:34568242 PMID:34606700 PMID:36474027 PMID:37667289 PMID:37712948 More...
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NCBI chr 2:115,175,275...115,249,034
Ensembl chr 2:115,174,984...115,249,032
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G |
Pik3r1 |
phosphoinositide-3-kinase regulatory subunit 1 |
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ISO |
ClinVar Annotator: match by term: Brain Neoplasms | ClinVar Annotator: match by term: Neoplasm of brain |
ClinVar |
PMID:19962457 PMID:25157968 PMID:25741868 PMID:26619011 |
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NCBI chr 2:32,878,942...32,963,668
Ensembl chr 2:32,882,032...32,963,631
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G |
Pms2 |
PMS1 homolog 2, mismatch repair system component |
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ISO |
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RGD |
PMID:10763829 |
RGD:1599141 |
NCBI chr12:10,676,818...10,701,161
Ensembl chr12:10,676,764...10,701,066
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G |
Pon1 |
paraoxonase 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16002382 |
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NCBI chr 4:33,294,737...33,325,759
Ensembl chr 4:33,294,722...33,321,360
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G |
Ptch1 |
patched 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:9581815 |
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NCBI chr17:1,542,705...1,607,730
Ensembl chr17:1,542,877...1,607,333
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G |
Pten |
phosphatase and tensin homolog |
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ISO |
ClinVar Annotator: match by term: Brain Neoplasms | ClinVar Annotator: match by term: Neoplasm of brain |
ClinVar |
PMID:9259288 PMID:9399897 PMID:9467011 PMID:9619835 PMID:9856571 PMID:10232405 PMID:10353779 PMID:10400993 PMID:10468583 PMID:10749983 PMID:10848731 PMID:10866302 PMID:10923032 PMID:11274365 PMID:11332402 PMID:11504908 PMID:11685670 PMID:11918710 PMID:14518070 PMID:16773562 PMID:17286265 PMID:17392703 PMID:17526800 PMID:17526801 PMID:18558293 PMID:18626099 PMID:18767981 PMID:18986487 PMID:19265751 PMID:20085938 PMID:20301661 PMID:20533527 PMID:21194675 PMID:21828076 PMID:21956414 PMID:22266152 PMID:22381246 PMID:22595938 PMID:22628360 PMID:23335809 PMID:23442912 PMID:23470840 PMID:23475934 PMID:23633456 PMID:23695273 PMID:23764071 PMID:23934601 PMID:24033266 PMID:24052722 PMID:24345843 PMID:24721394 PMID:24778394 PMID:25157968 PMID:25326635 PMID:25549896 PMID:25669429 PMID:25741868 PMID:25756585 PMID:26467025 PMID:27477328 PMID:28475857 PMID:28492532 PMID:28526761 PMID:28655553 PMID:29594054 PMID:29874181 PMID:30287823 PMID:30614812 PMID:30659124 PMID:32238909 PMID:33077954 PMID:33083010 PMID:33372952 PMID:33600059 PMID:36988593 More...
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NCBI chr 1:230,630,443...230,697,070
Ensembl chr 1:230,630,338...230,696,838
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G |
Ptpn11 |
protein tyrosine phosphatase, non-receptor type 11 |
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ISO |
ClinVar Annotator: match by term: Brain Neoplasms | ClinVar Annotator: match by term: Neoplasm of brain |
ClinVar |
PMID:12161469 PMID:12717436 PMID:14644997 PMID:14982869 PMID:15385933 PMID:15710330 PMID:15834506 PMID:15928039 PMID:16358218 PMID:17177198 PMID:17972951 PMID:18759865 PMID:19047918 PMID:19179468 PMID:24033266 PMID:25097206 PMID:25395418 PMID:25741868 PMID:26619011 PMID:26918529 PMID:27069254 PMID:28074573 PMID:28098151 PMID:28492532 PMID:30868567 PMID:30896080 More...
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NCBI chr12:35,365,436...35,424,925
Ensembl chr12:35,383,144...35,424,925
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G |
Rela |
RELA proto-oncogene, NF-kB subunit |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20932960 |
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NCBI chr 1:202,925,001...202,935,484
Ensembl chr 1:202,924,945...202,935,484
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G |
S100b |
S100 calcium binding protein B |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27935819 |
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NCBI chr20:12,372,866...12,381,619
Ensembl chr20:12,372,881...12,394,743
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G |
Sdha |
succinate dehydrogenase complex flavoprotein subunit A |
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ISO |
ClinVar Annotator: match by term: Neoplasm of brain |
ClinVar |
PMID:23109135 PMID:23282968 PMID:25741868 PMID:27011036 PMID:27986441 PMID:28492532 More...
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NCBI chr 1:28,935,965...28,960,936
Ensembl chr 1:28,940,164...28,961,535
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G |
Sirt1 |
sirtuin 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22523472 |
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NCBI chr20:25,307,225...25,329,273
Ensembl chr20:25,306,917...25,329,260
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G |
Smo |
smoothened, frizzled class receptor |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:9581815 |
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NCBI chr 4:58,343,626...58,373,823
Ensembl chr 4:58,343,529...58,373,829
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G |
Sod2 |
superoxide dismutase 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21749277 |
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NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189
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G |
Sox2 |
SRY-box transcription factor 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27935819 |
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NCBI chr 2:117,536,929...117,539,340
Ensembl chr 2:117,536,929...117,539,338
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G |
Spp1 |
secreted phosphoprotein 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16651633 |
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NCBI chr14:5,308,885...5,315,120
Ensembl chr14:5,308,885...5,315,162
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G |
Stk11 |
serine/threonine kinase 11 |
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ISO |
ClinVar Annotator: match by term: Malignant brain neoplasm |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 7:9,574,553...9,591,315
Ensembl chr 7:9,575,269...9,591,315
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G |
Tgfbr2 |
transforming growth factor, beta receptor 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27935819 |
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NCBI chr 8:115,794,537...115,883,615
Ensembl chr 8:115,794,537...115,883,228
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G |
Tgm2 |
transglutaminase 2 |
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ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:16170020 |
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NCBI chr 3:146,772,684...146,801,924
Ensembl chr 3:146,772,687...146,801,981
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G |
Tp53 |
tumor protein p53 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Brain Neoplasms | ClinVar Annotator: match by term: Brain neoplasm | ClinVar Annotator: match by term: Neoplasm of brain |
CTD ClinVar |
PMID:124622 PMID:253702 PMID:960674 PMID:1349175 PMID:1565143 PMID:1565144 PMID:1569604 PMID:1591732 PMID:1631137 PMID:1631151 PMID:1673792 PMID:1683921 PMID:1686725 PMID:1915267 PMID:1918170 PMID:1978757 PMID:2046748 PMID:2259385 PMID:2654466 PMID:3784963 PMID:4122735 PMID:6736287 PMID:7478555 PMID:7565304 PMID:7651740 PMID:7707106 PMID:7718482 PMID:7732013 PMID:7737263 PMID:7750099 PMID:7761089 PMID:7783166 PMID:7791795 PMID:7881428 PMID:7885831 PMID:7887414 PMID:8023157 PMID:8062826 PMID:8080050 PMID:8099841 PMID:8118819 PMID:8164043 PMID:8242631 PMID:8276238 PMID:8308926 PMID:8336941 PMID:8344492 PMID:8364550 PMID:8401536 PMID:8402598 PMID:8423216 PMID:8425176 PMID:8464896 PMID:8479749 PMID:8527048 PMID:8550239 PMID:8631304 PMID:8633021 PMID:8649776 PMID:8688334 PMID:8718514 PMID:8816796 PMID:8825920 PMID:8829627 PMID:8869100 PMID:9020384 PMID:9049183 PMID:9049184 PMID:9150393 PMID:9157982 PMID:9218725 PMID:9242456 PMID:9268986 PMID:9290701 PMID:9364015 PMID:9399658 PMID:9399838 PMID:9407971 PMID:9418900 PMID:9546439 PMID:9569050 PMID:9572492 PMID:9598730 PMID:9627118 PMID:9632751 PMID:9635828 PMID:9662334 PMID:9667734 PMID:9704930 PMID:9825943 PMID:9979965 PMID:10089074 PMID:10229196 PMID:10411893 PMID:10432928 PMID:10519380 PMID:10567903 PMID:10589545 PMID:10616528 PMID:10629033 PMID:10713666 PMID:10732753 PMID:10753186 PMID:10761705 PMID:10797439 PMID:10864200 PMID:10871862 PMID:10914716 PMID:10922393 PMID:10949938 PMID:11051239 PMID:11051241 PMID:11139324 PMID:11152481 PMID:11180592 PMID:11313981 PMID:11370630 PMID:11429705 PMID:11479205 PMID:11590071 PMID:11593407 PMID:11668501 PMID:11782540 PMID:11793474 PMID:11867759 PMID:11896595 PMID:11900253 PMID:11920788 PMID:11920959 PMID:12007217 PMID:12034820 PMID:12124823 PMID:12406399 PMID:12506399 PMID:12509279 PMID:12672316 PMID:12700230 PMID:12702523 PMID:12726864 PMID:12782597 PMID:12826609 PMID:12885464 PMID:12901974 PMID:12909720 PMID:12917626 PMID:14559903 PMID:14584079 PMID:14673037 PMID:14743206 PMID:15004724 PMID:15017592 PMID:15037740 PMID:15077194 PMID:15138567 PMID:15221755 PMID:15381368 PMID:15390294 PMID:15541116 PMID:15580553 PMID:15607980 PMID:15607981 PMID:15611505 PMID:15722483 PMID:15781620 PMID:15825182 PMID:15850016 PMID:15925506 PMID:15951970 PMID:15958617 PMID:15977174 PMID:15982667 PMID:15993273 PMID:16206219 PMID:16209708 PMID:16247456 PMID:16258005 PMID:16288208 PMID:16312222 PMID:16322298 PMID:16337994 PMID:16401470 PMID:16474844 PMID:16489069 PMID:16492679 PMID:16494995 PMID:16508005 PMID:16551709 PMID:16633321 PMID:16682957 PMID:16736287 PMID:16741917 PMID:16778209 PMID:16793544 PMID:16818505 PMID:16827139 PMID:16860786 PMID:16861262 PMID:17015838 PMID:17308077 PMID:17311302 PMID:17390010 PMID:17401428 PMID:17417627 PMID:17427234 PMID:17530187 PMID:17540308 PMID:17541742 PMID:17567834 PMID:17606709 PMID:17636407 PMID:17724467 PMID:17875924 PMID:17881637 PMID:17974978 PMID:18208484 PMID:18307025 PMID:18453682 PMID:18511570 PMID:18555592 PMID:18628487 PMID:18685109 PMID:18689542 PMID:18818522 PMID:18937320 PMID:18978813 PMID:18989156 PMID:19012332 PMID:19101993 PMID:19147582 PMID:19171880 PMID:19336573 PMID:19367287 PMID:19367569 PMID:19378321 PMID:19405127 PMID:19454241 PMID:19462533 PMID:19468865 PMID:19556618 PMID:19681600 PMID:19834951 PMID:19850740 PMID:19913028 PMID:19930417 PMID:20013323 PMID:20028212 PMID:20113312 PMID:20127978 PMID:20128691 PMID:20182602 PMID:20195489 PMID:20234365 PMID:20364130 PMID:20407015 PMID:20505364 PMID:20506564 PMID:20516128 PMID:20522432 PMID:20586629 PMID:20589832 PMID:20593220 PMID:20693561 PMID:20805372 PMID:20878954 PMID:20972454 PMID:21056685 PMID:21059199 PMID:21080251 PMID:21113594 PMID:21115975 PMID:21118481 PMID:21159183 PMID:21187651 PMID:21188122 PMID:21232794 PMID:21305319 PMID:21343334 PMID:21356188 PMID:21445056 PMID:21483000 PMID:21484931 PMID:21514416 PMID:21519010 PMID:21522129 PMID:21535297 PMID:21552135 PMID:21590121 PMID:21601526 PMID:21626334 PMID:21674059 PMID:21747090 PMID:21760960 PMID:21760996 PMID:21761402 PMID:22006311 PMID:22052707 PMID:22090360 PMID:22109999 PMID:22110706 PMID:22186996 PMID:22198284 PMID:22265402 PMID:22319594 PMID:22427690 PMID:22484423 PMID:22553421 PMID:22672556 PMID:22713868 PMID:22811390 PMID:22822097 PMID:22869713 PMID:22887876 PMID:22915647 PMID:22919068 PMID:22923379 PMID:22955915 PMID:22983585 PMID:22999923 PMID:23028800 PMID:23031740 PMID:23124483 PMID:23161690 PMID:23172776 PMID:23246812 PMID:23259501 PMID:23263379 PMID:23264849 PMID:23265383 PMID:23334668 PMID:23340422 PMID:23406775 PMID:23484829 PMID:23538418 PMID:23625637 PMID:23630318 PMID:23667202 PMID:23713777 PMID:23792586 PMID:23939625 PMID:23950206 PMID:23967324 PMID:24033266 PMID:24038938 PMID:24065105 PMID:24076587 PMID:24122735 PMID:24256616 PMID:24307375 PMID:24381225 PMID:24384472 PMID:24487413 PMID:24501221 PMID:24549055 PMID:24573247 PMID:24590827 PMID:24603336 PMID:24641375 PMID:24651012 PMID:24651015 PMID:24677579 PMID:24702488 PMID:24728327 PMID:24744791 PMID:24763289 PMID:24810334 PMID:24835218 PMID:24857548 PMID:24940547 PMID:25119136 PMID:25157968 PMID:25186627 PMID:25256166 PMID:25294809 PMID:25339994 PMID:25381062 PMID:25404506 PMID:25428789 PMID:25433984 PMID:25503501 PMID:25504633 PMID:25525159 PMID:25584008 PMID:25584637 PMID:25612911 PMID:25619955 PMID:25634208 PMID:25669829 PMID:25691460 PMID:25741868 PMID:25757876 PMID:25765855 PMID:25787918 PMID:25896519 PMID:25925845 PMID:25927356 PMID:25945745 PMID:25952993 PMID:25961455 PMID:25980754 PMID:26014290 PMID:26022348 PMID:26024390 PMID:26066407 PMID:26205489 PMID:26225655 PMID:26230955 PMID:26270727 PMID:26332594 PMID:26425688 PMID:26467025 PMID:26497680 PMID:26554828 PMID:26556299 PMID:26580448 PMID:26585234 PMID:26619011 PMID:26628864 PMID:26655088 PMID:26659639 PMID:26681312 PMID:26781615 PMID:26786923 PMID:26787237 PMID:26818906 PMID:26822237 PMID:26845104 PMID:26878390 PMID:26911350 PMID:26976419 PMID:27022024 PMID:27077130 PMID:27179933 PMID:27189670 PMID:27276561 PMID:27328919 PMID:27374712 PMID:27463065 PMID:27489289 PMID:27501770 PMID:27523101 PMID:27533082 PMID:27557517 PMID:27616075 PMID:27621308 PMID:27622479 PMID:27680515 PMID:27683180 PMID:27714481 PMID:27724982 PMID:27813088 PMID:27873457 PMID:27895058 PMID:27911860 PMID:27959731 PMID:27993330 PMID:28135145 PMID:28152038 PMID:28160093 PMID:28166194 PMID:28279309 PMID:28356770 PMID:28369373 PMID:28453743 PMID:28472496 PMID:28477316 PMID:28492532 PMID:28724667 PMID:28772286 PMID:28776571 PMID:28802053 PMID:28861920 PMID:28873162 PMID:28973705 PMID:28975465 PMID:29025599 PMID:29058119 PMID:29070607 PMID:29076966 PMID:29126202 PMID:29300620 PMID:29324801 PMID:29470806 PMID:29478780 PMID:29489754 PMID:29581140 PMID:29666004 PMID:29752822 PMID:29753700 PMID:29875428 PMID:29946497 PMID:29979965 PMID:30076369 PMID:30099178 PMID:30128536 PMID:30216591 PMID:30224644 PMID:30287823 PMID:30299350 PMID:30306255 PMID:30311369 PMID:30318520 PMID:30322717 PMID:30327374 PMID:30352134 PMID:30450585 PMID:30583724 PMID:30630526 PMID:30675318 PMID:30709381 PMID:30709875 PMID:30720243 PMID:30730202 PMID:30816478 PMID:30840781 PMID:31016814 PMID:31050713 PMID:31081129 PMID:31105275 PMID:31119730 PMID:31121848 PMID:31127191 PMID:31206626 PMID:31296311 PMID:31300551 PMID:31748977 PMID:31775759 PMID:31882575 PMID:32000721 PMID:32019277 PMID:32156018 PMID:32164171 PMID:32187361 PMID:32295079 PMID:32318955 PMID:32371905 PMID:32401780 PMID:32475984 PMID:32658383 PMID:32817165 PMID:32888145 PMID:32906206 PMID:32980694 PMID:33087929 PMID:33138793 PMID:33163847 PMID:33208383 PMID:33245408 PMID:33300245 PMID:33332384 PMID:33372952 PMID:33407742 PMID:33471991 PMID:33633026 PMID:33674644 PMID:33758026 PMID:33818021 PMID:33840814 PMID:34240179 PMID:34266904 PMID:34308366 PMID:34529667 PMID:34675114 PMID:34709361 PMID:34793666 PMID:34805717 PMID:34994652 PMID:35033608 PMID:35127508 PMID:35264596 PMID:35820297 PMID:35938033 PMID:35974385 PMID:36219266 PMID:36988593 More...
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NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
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G |
Tsc2 |
TSC complex subunit 2 |
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ISO |
ClinVar Annotator: match by term: Neoplasm of brain |
ClinVar |
PMID:10205261 PMID:10533067 PMID:10735580 PMID:11208653 PMID:11603814 PMID:12136241 PMID:15798777 PMID:16114042 PMID:17304050 PMID:18854862 PMID:21309039 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 More...
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NCBI chr10:13,621,135...13,655,773
Ensembl chr10:13,621,136...13,655,951
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G |
Vegfa |
vascular endothelial growth factor A |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20932960 |
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NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641
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G |
Yap1 |
Yes1 associated transcriptional regulator |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27935819 |
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NCBI chr 8:5,095,705...5,166,808
Ensembl chr 8:5,095,722...5,167,010
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G |
Pax3 |
paired box 3 |
|
ISO |
mRNA,protein:increased expression:brain stem: |
RGD |
PMID:25330836 |
RGD:13702891 |
NCBI chr 9:79,567,455...79,664,042
Ensembl chr 9:79,568,634...79,664,042
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G |
Pdgfra |
platelet derived growth factor receptor alpha |
severity |
ISO |
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RGD |
PMID:20197468 |
RGD:13702892 |
NCBI chr14:33,005,838...33,054,347
Ensembl chr14:33,005,839...33,054,335
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G |
Cdk4 |
cyclin-dependent kinase 4 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24098593 |
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NCBI chr 7:62,886,124...62,889,562
Ensembl chr 7:62,883,105...62,942,403
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G |
Cdk6 |
cyclin-dependent kinase 6 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24098593 |
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NCBI chr 4:30,637,650...30,829,688
Ensembl chr 4:30,646,460...30,829,634
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G |
Cdkn2a |
cyclin-dependent kinase inhibitor 2A |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24098593 |
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NCBI chr 5:103,984,949...103,992,143
Ensembl chr 5:103,984,949...104,003,149
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G |
Ppm1d |
protein phosphatase, Mg2+/Mn2+ dependent, 1D |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24880341 |
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NCBI chr10:70,172,603...70,208,607
Ensembl chr10:70,172,603...70,208,607
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G |
Dhfr |
dihydrofolate reductase |
|
ISO |
ClinVar Annotator: match by term: Cavernous sinus meningioma |
ClinVar |
PMID:25741868 PMID:26467025 PMID:28492532 PMID:31371350 PMID:31627758 |
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NCBI chr 2:23,585,876...23,611,199
Ensembl chr 2:23,586,031...23,613,713
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G |
Kmt2d |
lysine methyltransferase 2D |
|
ISO |
ClinVar Annotator: match by term: Cavernous sinus meningioma |
ClinVar |
PMID:21671394 PMID:22126750 PMID:28492532 |
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NCBI chr 7:129,980,744...130,022,088
Ensembl chr 7:129,962,887...130,020,325
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G |
Msh3 |
mutS homolog 3 |
|
ISO |
ClinVar Annotator: match by term: Cavernous sinus meningioma |
ClinVar |
PMID:25741868 PMID:26467025 PMID:28492532 PMID:31371350 PMID:31627758 |
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NCBI chr 2:23,444,326...23,585,777
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G |
Xrcc1 |
X-ray repair cross complementing 1 |
susceptibility |
ISO |
DNA:SNPs:cd: p.R194W, p.Q399R (rs1799782, rs25487) (human) |
RGD |
PMID:23534771 |
RGD:401850601 |
NCBI chr 1:80,140,495...80,168,705
Ensembl chr 1:80,141,207...80,168,701
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G |
Xrcc3 |
X-ray repair cross complementing 3 |
susceptibility |
ISO |
DNA:SNP:cd: p.T241M (rs861539) (Human) |
RGD |
PMID:23534771 |
RGD:401850601 |
NCBI chr 6:130,863,405...130,873,765
Ensembl chr 6:130,863,959...130,872,444
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G |
Btk |
Bruton tyrosine kinase |
ameliorates |
ISO |
|
RGD |
PMID:28552327 |
RGD:124715478 |
NCBI chr X:97,722,796...97,762,315
Ensembl chr X:97,722,802...97,761,853
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G |
Cd79b |
CD79b molecule |
treatment |
ISO |
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RGD |
PMID:28619981 |
RGD:151665208 |
NCBI chr10:91,239,354...91,242,500
Ensembl chr10:91,239,356...91,242,625
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G |
Il10 |
interleukin 10 |
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ISO |
DNA:SNP:promoter:-1082G>A (human) |
RGD |
PMID:22628023 |
RGD:7364831 |
NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
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G |
Myd88 |
MYD88, innate immune signal transduction adaptor |
treatment |
ISO |
|
RGD |
PMID:28619981 |
RGD:151665208 |
NCBI chr 8:119,074,439...119,078,508
Ensembl chr 8:119,074,437...119,079,415
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G |
Vhl |
von Hippel-Lindau tumor suppressor |
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ISO |
ClinVar Annotator: match by term: Cerebellar hemangioblastoma |
ClinVar |
PMID:7728151 PMID:7987306 PMID:10567493 PMID:12114495 PMID:15611064 PMID:22799452 PMID:23384228 PMID:25741868 PMID:28492532 More...
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NCBI chr 4:146,772,483...146,779,376
Ensembl chr 4:146,772,468...146,779,377
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G |
Msh6 |
mutS homolog 6 |
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ISO |
ClinVar Annotator: match by term: Cerebellar medulloblastoma |
ClinVar |
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NCBI chr 6:6,562,631...6,579,995
Ensembl chr 6:6,562,632...6,579,956
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G |
Akap9 |
A-kinase anchoring protein 9 |
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ISO |
ClinVar Annotator: match by term: Cerebral cavernous malformation |
ClinVar |
PMID:10508515 PMID:11222804 PMID:12404106 PMID:17187287 PMID:17211633 PMID:20798775 PMID:24689081 PMID:28492532 More...
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NCBI chr 4:30,056,738...30,192,716
Ensembl chr 4:30,056,738...30,192,606
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G |
Ankib1 |
ankyrin repeat and IBR domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Cerebral cavernous malformation |
ClinVar |
PMID:25741868 |
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NCBI chr 4:30,333,678...30,457,781
Ensembl chr 4:30,333,677...30,457,781
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G |
Ccm2 |
CCM2 scaffold protein |
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ISO |
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 chr14:81,418,418...81,464,114
Ensembl chr14:81,418,236...81,464,116
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G |
Cyp51 |
cytochrome P450, family 51 |
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ISO |
ClinVar Annotator: match by term: Cerebral cavernous malformation |
ClinVar |
PMID:10508515 PMID:11222804 PMID:12404106 PMID:17187287 PMID:17211633 PMID:20798775 PMID:24689081 PMID:28492532 More...
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NCBI chr 4:30,036,956...30,055,410
Ensembl chr 4:30,036,865...30,055,410 Ensembl chr 6:30,036,865...30,055,410
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G |
Flt1 |
Fms related receptor tyrosine kinase 1 |
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ISO |
protein:increased expression:endothelial cell: |
RGD |
PMID:11220380 |
RGD:8551824 |
NCBI chr12:7,296,899...7,468,626
Ensembl chr12:7,297,292...7,468,626
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G |
Kdr |
kinase insert domain receptor |
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ISO |
protein:increased expression:endothelial cell: |
RGD |
PMID:11220380 |
RGD:8551824 |
NCBI chr14:32,217,871...32,261,018
Ensembl chr14:32,217,871...32,261,018
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G |
Krit1 |
KRIT1, ankyrin repeat containing |
susceptibility |
ISO ISS |
ClinVar Annotator: match by term: Cavernous Hemangioma of Brain | ClinVar Annotator: match by term: Cerebral cavernous malformation | ClinVar Annotator: match by term: Cerebral cavernous malformations CTD Direct Evidence: marker/mechanism |
ClinVar MouseDO CTD RGD |
PMID:3393196 PMID:7898703 PMID:9065560 PMID:9536098 PMID:10508515 PMID:10545614 PMID:10814716 PMID:11161805 PMID:11222804 PMID:11914398 PMID:11941540 PMID:11959162 PMID:12404106 PMID:12810002 PMID:12854741 PMID:14755725 PMID:15079030 PMID:16199547 PMID:16321204 PMID:16571644 PMID:17187287 PMID:17211633 PMID:17277691 PMID:17440989 PMID:17562932 PMID:17576681 PMID:18060436 PMID:18300272 PMID:18380023 PMID:18383588 PMID:19088123 PMID:19099113 PMID:19454328 PMID:19763152 PMID:20301470 PMID:20306072 PMID:20307669 PMID:20419355 PMID:20798775 PMID:21029238 PMID:22406018 PMID:23584803 PMID:23595507 PMID:24007869 PMID:24401931 PMID:24466005 PMID:24689081 PMID:24721395 PMID:25525159 PMID:25525273 PMID:25640679 PMID:25741868 PMID:26467025 PMID:26682556 PMID:27766163 PMID:27790124 PMID:27792856 PMID:28000143 PMID:28492532 PMID:28645800 PMID:28745674 PMID:28867399 PMID:29593473 PMID:30161288 PMID:31124307 PMID:31254430 PMID:33651268 PMID:33891857 PMID:33911302 PMID:34558799 PMID:34634677 PMID:34964173 PMID:14755725 PMID:15079030 More...
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RGD:1358458, RGD:1598379 |
NCBI chr 4:30,299,203...30,333,366
Ensembl chr 4:30,299,203...30,333,359
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G |
Lrrd1 |
leucine-rich repeats and death domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Cerebral cavernous malformation |
ClinVar |
PMID:10508515 PMID:11222804 PMID:12404106 PMID:17187287 PMID:17211633 PMID:20798775 PMID:24689081 PMID:28492532 More...
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NCBI chr 4:30,263,147...30,293,119
Ensembl chr 4:30,264,862...30,293,173
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G |
Mterf1 |
mitochondrial transcription termination factor 1 |
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ISO |
ClinVar Annotator: match by term: Cerebral cavernous malformation |
ClinVar |
PMID:10508515 PMID:11222804 PMID:12404106 PMID:17187287 PMID:17211633 PMID:20798775 PMID:24689081 PMID:28492532 More...
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NCBI chr 4:30,226,345...30,233,402
Ensembl chr 4:30,226,343...30,233,584
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G |
Notch3 |
notch receptor 3 |
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ISO |
ClinVar Annotator: match by term: Cerebral cavernous malformation |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 7:11,132,984...11,184,025
Ensembl chr 7:11,133,706...11,184,025
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G |
Pdcd10 |
programmed cell death 10 |
|
ISO |
ClinVar Annotator: match by term: Cavernous Hemangioma of Brain | ClinVar Annotator: match by term: Cerebral cavernous malformation |
ClinVar |
PMID:15543491 PMID:18035376 PMID:18300272 PMID:23485406 PMID:23595507 PMID:23801932 PMID:25741868 PMID:26896283 PMID:28492532 More...
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NCBI chr 2:160,303,465...160,346,086
Ensembl chr 2:160,303,449...160,346,018
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G |
Pon1 |
paraoxonase 1 |
susceptibility |
ISO |
DNA:missense mutations:cds:p.L55M, p.Q192R (human) |
RGD |
PMID:26122242 |
RGD:11552573 |
NCBI chr 4:33,294,737...33,325,759
Ensembl chr 4:33,294,722...33,321,360
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G |
Pten |
phosphatase and tensin homolog |
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ISO |
protein:decreased expression:brain (human) |
RGD |
PMID:19061355 |
RGD:12859036 |
NCBI chr 1:230,630,443...230,697,070
Ensembl chr 1:230,630,338...230,696,838
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G |
Serpini1 |
serpin family I member 1 |
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ISO |
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 2:160,346,403...160,433,135
Ensembl chr 2:160,346,758...160,433,135
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G |
Krit1 |
KRIT1, ankyrin repeat containing |
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ISO |
ClinVar Annotator: match by term: Cerebral cavernous malformation 1 | ClinVar Annotator: match by term: KRIT1-Related Disorders |
OMIM ClinVar |
PMID:3393196 PMID:7898703 PMID:9065560 PMID:10508515 PMID:10545614 PMID:10814716 PMID:11161805 PMID:11222804 PMID:11914398 PMID:11941540 PMID:12404106 PMID:12810002 PMID:12854741 PMID:14755725 PMID:16571644 PMID:17562932 PMID:19088123 PMID:19454328 PMID:20301470 PMID:23595507 PMID:24007869 PMID:24401931 PMID:24689081 PMID:24721395 PMID:25525159 PMID:25525273 PMID:25741868 PMID:26467025 PMID:26682556 PMID:28492532 PMID:28645800 PMID:28867399 PMID:29593473 PMID:30161288 PMID:31254430 PMID:33911302 PMID:34634677 PMID:34964173 More...
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NCBI chr 4:30,299,203...30,333,366
Ensembl chr 4:30,299,203...30,333,359
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G |
Pdcd10 |
programmed cell death 10 |
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ISO |
ClinVar Annotator: match by term: Cerebral cavernous malformation 1 |
ClinVar |
PMID:25741868 |
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NCBI chr 2:160,303,465...160,346,086
Ensembl chr 2:160,303,449...160,346,018
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G |
Ptgis |
prostaglandin I2 synthase |
exacerbates |
ISO |
DNA:silent mutation:CDS:p.L256L (rs5628) (human) |
RGD |
PMID:26795600 |
RGD:401960081 |
NCBI chr 3:155,928,564...155,964,228
Ensembl chr 3:155,916,412...155,965,451
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G |
Ccm2 |
CCM2 scaffold protein |
|
ISO ISS |
ClinVar Annotator: match by term: Cerebral cavernous malformation 2 OMIM:603284 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar MouseDO CTD |
PMID:2468908 PMID:9536098 PMID:14624391 PMID:14740320 PMID:15122722 PMID:16199547 PMID:17160895 PMID:17277691 PMID:17576681 PMID:18060436 PMID:18300272 PMID:19088123 PMID:19088124 PMID:19475721 PMID:20419355 PMID:23595507 PMID:24466005 PMID:24689081 PMID:25525273 PMID:25741868 PMID:26467025 PMID:27153162 PMID:27561926 PMID:27792856 PMID:28492532 PMID:28655553 PMID:29758562 PMID:30161288 PMID:31937560 PMID:32860008 PMID:35307828 More...
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NCBI chr14:81,418,418...81,464,114
Ensembl chr14:81,418,236...81,464,116
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G |
Nacad |
NAC alpha domain containing |
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ISO |
ClinVar Annotator: match by term: Cerebral cavernous malformation 2 |
ClinVar |
PMID:17160895 PMID:28492532 |
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NCBI chr14:81,465,299...81,473,866
Ensembl chr14:81,465,299...81,473,781
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G |
Pdcd10 |
programmed cell death 10 |
onset exacerbates |
ISO ISS |
ClinVar Annotator: match by term: Cerebral cavernous malformation 3 | ClinVar Annotator: match by term: Cerebral cavernous malformations 3 DNA:deletion:CDS:c.506delA (human) DNA:mutations:multiple (human) DNA:SNPs:promoter: (rs9853967, rs11714980) (human) DNA:nonsense mutation, frameshift mutations:CDS:multiple (human) DNA:mutations:SNPs, duplications, deletions:multiple (human) DNA:deletions, nonsense mutations:multiple (human) OMIM:603285 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar MouseDO CTD RGD |
PMID:9536098 PMID:15543491 PMID:16199547 PMID:16329096 PMID:16380626 PMID:17576681 PMID:18035376 PMID:18060436 PMID:18300272 PMID:20623299 PMID:23485406 PMID:23595507 PMID:23801932 PMID:24466005 PMID:24689081 PMID:25122144 PMID:25354366 PMID:25640679 PMID:25741868 PMID:26246098 PMID:26896283 PMID:28492532 PMID:30161288 PMID:34597987 PMID:17041941 PMID:25122144 PMID:27737651 PMID:16284570 PMID:25354366 PMID:15543491 More...
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RGD:401827173, RGD:401827115, RGD:401827114, RGD:401827108, RGD:401827103, RGD:401827102, RGD:329961304 |
NCBI chr 2:160,303,465...160,346,086
Ensembl chr 2:160,303,449...160,346,018
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G |
Serpini1 |
serpin family I member 1 |
|
ISO |
ClinVar Annotator: match by term: Cerebral cavernous malformation 3 |
ClinVar |
PMID:15543491 PMID:18300272 PMID:23801932 PMID:25741868 PMID:28492532 |
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NCBI chr 2:160,346,403...160,433,135
Ensembl chr 2:160,346,758...160,433,135
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G |
Pik3ca |
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha |
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ISO |
ClinVar Annotator: match by term: Cerebral cavernous malformation 4 |
OMIM ClinVar |
PMID:25741868 |
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NCBI chr 2:115,175,275...115,249,034
Ensembl chr 2:115,174,984...115,249,032
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G |
Gna14 |
G protein subunit alpha 14 |
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ISO |
ClinVar Annotator: match by term: Cerebrofacial arteriovenous metameric syndrome |
ClinVar |
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NCBI chr 1:213,714,993...213,900,083
Ensembl chr 1:213,716,020...213,897,423
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G |
Ctc1 |
CST telomere replication complex component 1 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Coats plus syndrome |
CTD ClinVar |
PMID:22267198 PMID:22387016 PMID:23220793 PMID:23869908 PMID:24033266 PMID:25182133 PMID:25741868 PMID:28492532 PMID:30891747 More...
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NCBI chr10:53,714,614...53,735,298
Ensembl chr10:53,714,644...53,735,298
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G |
Stn1 |
STN1 subunit of CST complex |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
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NCBI chr 1:246,391,311...246,429,844
Ensembl chr 1:246,395,613...246,429,531
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G |
Ctc1 |
CST telomere replication complex component 1 |
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ISO |
ClinVar Annotator: match by term: CTC1-related condition | ClinVar Annotator: match by term: Cerebroretinal microangiopathy with calcifications and cysts 1 |
OMIM ClinVar |
PMID:9536098 PMID:16199547 PMID:16943371 PMID:17576681 PMID:18076099 PMID:22267198 PMID:22387016 PMID:22532422 PMID:22899577 PMID:23869908 PMID:24033266 PMID:24115768 PMID:25182133 PMID:25197929 PMID:25741868 PMID:25843205 PMID:28492532 PMID:28864049 PMID:29111009 PMID:29146883 PMID:29228254 PMID:29481669 PMID:30523342 PMID:30891747 PMID:33510405 PMID:34573280 PMID:34706368 More...
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NCBI chr10:53,714,614...53,735,298
Ensembl chr10:53,714,644...53,735,298
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G |
Pfas |
phosphoribosylformylglycinamidine synthase |
|
ISO |
ClinVar Annotator: match by term: CTC1-related condition | ClinVar Annotator: match by term: Cerebroretinal microangiopathy with calcifications and cysts 1 |
ClinVar |
PMID:22267198 PMID:22387016 PMID:24115768 PMID:25741868 PMID:28492532 PMID:29481669 More...
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NCBI chr10:53,690,301...53,711,811
Ensembl chr10:53,691,626...53,708,420
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G |
Stn1 |
STN1 subunit of CST complex |
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ISO |
ClinVar Annotator: match by term: Cerebroretinal microangiopathy with calcifications and cysts 2 |
OMIM ClinVar |
PMID:25741868 PMID:27432940 PMID:28492532 |
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NCBI chr 1:246,391,311...246,429,844
Ensembl chr 1:246,395,613...246,429,531
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G |
Pot1 |
protection of telomeres 1 |
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ISO |
ClinVar Annotator: match by term: Cerebroretinal microangiopathy with calcifications and cysts 3 |
ClinVar OMIM |
PMID:27013236 PMID:28492532 |
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NCBI chr 4:54,205,330...54,263,137
Ensembl chr 4:54,205,332...54,263,042
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G |
Rtel1 |
regulator of telomere elongation helicase 1 |
ameliorates susceptibility |
ISO |
DNA:SNP:cds:rs6089953|rs6010620|rs2297440 (human) DNA:SNP:cds:rs4809324 (human) |
RGD |
PMID:26014354 PMID:26014354 |
RGD:152985535, RGD:152985535 |
NCBI chr 3:168,427,247...168,465,349
Ensembl chr 3:168,419,579...168,465,348
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G |
Mapk1 |
mitogen activated protein kinase 1 |
|
ISO |
protein:increased expression:brain: |
RGD |
PMID:21466243 |
RGD:13702864 |
NCBI chr11:83,957,813...84,023,629
Ensembl chr11:83,957,813...84,023,616
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G |
Prkca |
protein kinase C, alpha |
|
ISO |
DNA:mutation:cds:c.1387G>C,p.D463H(human) |
RGD |
PMID:29476136 |
RGD:13782058 |
NCBI chr10:92,889,390...93,288,013
Ensembl chr10:92,894,012...93,288,012
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G |
Foxo3 |
forkhead box O3 |
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ISO |
ClinVar Annotator: match by term: Choroid plexus carcinoma |
ClinVar |
PMID:26822237 |
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NCBI chr20:45,669,708...45,764,606
Ensembl chr20:45,672,995...45,764,561
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G |
Nf2 |
NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor |
|
ISO |
ClinVar Annotator: match by term: Choroid plexus carcinoma |
ClinVar |
PMID:26822237 |
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NCBI chr14:79,627,399...79,710,709
Ensembl chr14:79,627,399...79,710,667
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G |
Nsd1 |
nuclear receptor binding SET domain protein 1 |
|
ISO |
ClinVar Annotator: match by term: Choroid plexus carcinoma |
ClinVar |
PMID:26822237 |
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NCBI chr17:9,311,963...9,426,373
Ensembl chr17:9,315,237...9,425,358
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G |
Tp53 |
tumor protein p53 |
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ISO |
ClinVar Annotator: match by term: Choroid plexus carcinoma |
ClinVar |
PMID:1631137 PMID:1978757 PMID:8062826 PMID:8099841 PMID:8425176 PMID:8527048 PMID:9150393 PMID:9242456 PMID:9598730 PMID:9825943 PMID:10089074 PMID:11051239 PMID:11782540 PMID:12826609 PMID:14743206 PMID:16489069 PMID:16818505 PMID:17417627 PMID:17427234 PMID:17606709 PMID:17881637 PMID:18762572 PMID:19378321 PMID:20013323 PMID:20128691 PMID:20182602 PMID:20407015 PMID:20522432 PMID:21059199 PMID:21343334 PMID:21519010 PMID:21601526 PMID:22186996 PMID:22265402 PMID:22713868 PMID:22915647 PMID:22955915 PMID:23172776 PMID:23246812 PMID:23667202 PMID:23950206 PMID:24033266 PMID:24038938 PMID:24573247 PMID:24603336 PMID:24651015 PMID:25157968 PMID:25584008 PMID:25741868 PMID:25925845 PMID:25952993 PMID:26230955 PMID:26467025 PMID:26585234 PMID:26619011 PMID:26787237 PMID:27276561 PMID:27374712 PMID:27463065 PMID:27680515 PMID:27895058 PMID:27959731 PMID:28369373 PMID:28472496 PMID:28492532 PMID:28724667 PMID:29025599 PMID:29979965 PMID:30224644 PMID:30327374 PMID:31127191 PMID:31775759 PMID:32187361 PMID:36988593 More...
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NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
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G |
Tp53 |
tumor protein p53 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Choroid plexus papilloma | ClinVar Annotator: match by term: Papilloma of choroid plexus |
CTD OMIM ClinVar |
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 chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
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G |
Acod1 |
aconitate decarboxylase 1 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:79,871,819...79,881,101
Ensembl chr15:79,871,827...79,880,529
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G |
Alg11 |
ALG11, alpha-1,2-mannosyltransferase |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr16:69,940,540...69,951,617
Ensembl chr16:69,944,349...69,951,601
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G |
Arl11 |
ARF like GTPase 11 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:35,483,330...35,485,579
Ensembl chr15:35,480,018...35,496,596
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G |
Atp7b |
ATPase copper transporting beta |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr16:69,952,286...70,024,404
Ensembl chr16:69,951,778...70,023,636
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G |
Bora |
bora, aurora kinase A activator |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:75,797,624...75,835,599
Ensembl chr15:75,797,891...75,821,322
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G |
C15h13orf42 |
similar to human chromosome 13 open reading frame 42 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:36,674,840...36,701,304
Ensembl chr15:36,677,527...36,701,211
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G |
Cab39l |
calcium binding protein 39-like |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:33,606,588...33,710,518
Ensembl chr15:33,606,694...33,743,545
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G |
Ccdc70 |
coiled-coil domain containing 70 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr16:70,037,309...70,042,401
Ensembl chr16:70,037,309...70,042,339
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G |
Cdadc1 |
cytidine and dCMP deaminase domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:33,726,590...33,755,611
Ensembl chr15:33,723,435...33,755,576
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G |
Ckap2 |
cytoskeleton associated protein 2 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr16:69,839,668...69,864,852
Ensembl chr16:69,839,630...69,864,913
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G |
Cln5 |
CLN5, intracellular trafficking protein |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:79,893,573...79,903,438
Ensembl chr15:79,893,548...79,903,438 Ensembl chr 2:79,893,548...79,903,438
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G |
Cnmd |
chondromodulin |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:55,041,548...55,066,297
Ensembl chr15:55,041,561...55,066,297
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G |
Commd6 |
COMM domain containing 6 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:78,467,333...78,474,382
Ensembl chr15:78,467,804...78,474,382
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G |
Cysltr2 |
cysteinyl leukotriene receptor 2 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:48,189,476...48,228,750
Ensembl chr15:48,189,073...48,304,136
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G |
Dach1 |
dachshund family transcription factor 1 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:74,528,122...74,909,811
Ensembl chr15:74,529,208...74,909,922
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G |
Diaph3 |
diaphanous-related formin 3 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:62,543,375...63,013,060
Ensembl chr15:62,543,375...63,012,975
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G |
Dis3 |
DIS3 homolog, exosome endoribonuclease and 3'-5' exoribonuclease |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:75,820,040...75,850,450
Ensembl chr15:75,823,436...75,850,642
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G |
Dleu7 |
deleted in lymphocytic leukemia, 7 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:36,479,533...36,495,730
Ensembl chr15:36,479,534...36,495,697
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G |
Ebpl |
EBP like |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:35,508,074...35,531,472
Ensembl chr15:35,508,074...35,531,472
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G |
Ednrb |
endothelin receptor type B |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:80,640,839...80,672,115
Ensembl chr15:80,643,043...80,672,115
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G |
Fam124a |
family with sequence similarity 124 member A |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:36,799,836...36,855,062
Ensembl chr15:36,799,877...36,853,683
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G |
Fbxl3 |
F-box and leucine-rich repeat protein 3 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:79,906,795...79,926,678
Ensembl chr15:79,906,795...79,927,867
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G |
Fndc3a |
fibronectin type III domain containing 3a |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:47,689,909...47,867,354
Ensembl chr15:47,689,919...47,866,784
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G |
Ints6 |
integrator complex subunit 6 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:36,908,966...37,048,043
Ensembl chr15:36,933,724...37,021,527
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G |
Itm2b |
integral membrane protein 2B |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:48,545,998...48,568,904
Ensembl chr15:48,546,001...48,568,917
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G |
Kcnrg |
potassium channel regulator |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:35,774,456...35,779,409
Ensembl chr15:35,774,326...35,779,415
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G |
Kctd12 |
potassium channel tetramerization domain containing 12 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:79,800,078...79,806,017
Ensembl chr15:79,801,191...79,806,282
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G |
Klf12 |
KLF transcription factor 12 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:76,628,778...77,062,000
Ensembl chr15:76,637,654...77,062,056
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G |
Klf5 |
KLF transcription factor 5 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:76,060,320...76,079,445
Ensembl chr15:76,064,258...76,079,445
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G |
Klhl1 |
kelch-like family member 1 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:72,698,191...73,142,726
Ensembl chr15:72,699,094...73,142,594
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G |
Kpna3 |
karyopherin subunit alpha 3 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:35,536,310...35,610,066
Ensembl chr15:35,536,316...35,610,419
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G |
Lmo7 |
LIM domain 7 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:78,566,999...78,769,833
Ensembl chr15:78,567,023...78,769,783
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G |
Lpar6 |
lysophosphatidic acid receptor 6 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:48,416,548...48,418,357
Ensembl chr15:48,416,544...48,422,331
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G |
Med4 |
mediator complex subunit 4 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:48,696,542...48,706,818
Ensembl chr15:48,696,511...48,706,820
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G |
Mycbp2 |
MYC binding protein 2 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:79,937,354...80,175,432
Ensembl chr15:79,937,354...80,175,498
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G |
Mzt1 |
mitotic spindle organizing protein 1 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:75,787,281...75,797,589
Ensembl chr15:75,786,994...75,797,589
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G |
Ndfip2 |
Nedd4 family interacting protein 2 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:82,032,366...82,087,043
Ensembl chr15:82,032,366...82,086,317
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G |
Nek3 |
NIMA-related kinase 3 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr16:69,867,020...69,892,477
Ensembl chr16:69,867,047...69,892,508
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G |
Nek5 |
NIMA-related kinase 5 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr16:69,895,414...69,938,668
Ensembl chr16:69,895,422...69,939,429
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G |
Nudt15 |
nudix hydrolase 15 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:48,707,776...48,713,847
Ensembl chr15:48,709,700...48,747,363
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G |
Obi1 |
ORC ubiquitin ligase 1 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:81,269,413...81,308,734
Ensembl chr15:81,269,416...81,308,734
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G |
Olfm4 |
olfactomedin 4 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:55,385,100...55,429,687
Ensembl chr15:55,407,148...55,429,681
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G |
Pcdh17 |
protocadherin 17 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:60,222,088...60,316,172
Ensembl chr15:60,222,004...60,313,999
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G |
Pcdh20 |
protocadherin 20 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:64,425,534...64,431,790
Ensembl chr15:64,425,534...64,431,790
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G |
Pcdh8 |
protocadherin 8 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:55,198,470...55,203,039
Ensembl chr15:55,198,459...55,205,872
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G |
Pcdh9 |
protocadherin 9 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:69,340,108...70,237,531
Ensembl chr15:69,340,645...70,237,538
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G |
Phf11 |
PHD finger protein 11 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:33,390,290...33,414,647
Ensembl chr15:33,390,292...33,413,009
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G |
Pibf1 |
progesterone immunomodulatory binding factor 1 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:75,850,389...76,019,711
Ensembl chr15:75,850,624...76,019,712
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G |
Pou4f1 |
POU class 4 homeobox 1 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:81,253,714...81,260,057
Ensembl chr15:81,257,781...81,259,728
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G |
Prr20e |
proline rich 20E |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr 4:121,566,632...121,574,734
Ensembl chr 4:121,571,797...121,573,140
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G |
Rb1 |
RB transcriptional corepressor 1 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:48,371,295...48,502,473
Ensembl chr15:48,371,296...48,502,302
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G |
Rbm26 |
RNA binding motif protein 26 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:81,884,783...81,964,245
Ensembl chr15:81,887,219...81,964,118
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G |
Rcbtb1 |
RCC1 and BTB domain containing protein 1 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:33,319,586...33,362,421
Ensembl chr15:33,319,586...33,365,302
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G |
Rcbtb2 |
RCC1 and BTB domain containing protein 2 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:48,319,809...48,364,441
Ensembl chr15:48,323,866...48,383,750
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G |
Rnaseh2b |
ribonuclease H2, subunit B |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:36,541,200...36,592,016
Ensembl chr15:36,541,218...36,584,118
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G |
Scel |
sciellin |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:80,339,661...80,456,546
Ensembl chr15:80,339,951...80,456,372
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G |
Serpine3 |
serpin family E member 3 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:36,908,816...36,931,825
Ensembl chr15:36,907,131...36,933,150
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G |
Setdb2 |
SET domain bifurcated histone lysine methyltransferase 2 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:33,553,657...33,606,586
Ensembl chr15:33,453,952...33,606,470
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G |
Slain1 |
SLAIN motif family, member 1 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:80,482,818...80,542,461
Ensembl chr15:80,482,367...80,542,350
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G |
Slitrk1 |
SLIT and NTRK-like family, member 1 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:85,723,252...85,727,290
Ensembl chr15:85,724,475...85,727,509
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G |
Slitrk6 |
SLIT and NTRK-like family, member 6 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:87,563,506...87,570,125
Ensembl chr15:87,563,322...87,570,393
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G |
Spry2 |
sprouty RTK signaling antagonist 2 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:82,692,291...82,697,408
Ensembl chr15:82,692,143...82,698,009
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G |
Spryd7 |
SPRY domain containing 7 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:35,707,185...35,727,704
Ensembl chr15:35,707,060...35,727,509
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G |
Sucla2 |
succinate-CoA ligase ADP-forming subunit beta |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:48,752,356...48,805,495
Ensembl chr15:48,752,312...48,805,138
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G |
Sugt1 |
SGT1 homolog, MIS12 kinetochore complex assembly cochaperone |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:54,991,419...55,032,244
Ensembl chr15:54,990,672...55,069,150
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G |
Tbc1d4 |
TBC1 domain family, member 4 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:78,256,030...78,434,168
Ensembl chr15:78,257,121...78,434,265
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G |
Tdrd3 |
tudor domain containing 3 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:63,340,531...63,497,208
Ensembl chr15:63,341,235...63,476,110
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G |
Thsd1 |
thrombospondin type 1 domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr16:69,771,408...69,804,844
Ensembl chr16:69,771,408...69,801,504
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G |
Trim13 |
tripartite motif-containing 13 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:35,733,548...35,772,676
Ensembl chr15:35,734,107...35,772,677
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G |
Uchl3 |
ubiquitin C-terminal hydrolase L3 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:78,485,304...78,527,355
Ensembl chr15:78,485,315...78,527,355 Ensembl chr 3:78,485,315...78,527,355
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G |
Vps36 |
vacuolar protein sorting 36 homolog |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr16:69,810,404...69,834,789
Ensembl chr16:69,808,193...69,834,810
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G |
Wdfy2 |
WD repeat and FYVE domain containing 2 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:37,083,842...37,209,559
Ensembl chr15:37,042,987...37,209,304
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G |
Clcc1 |
chloride channel CLIC-like 1 |
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ISO |
ClinVar Annotator: match by term: Chudley-McCullough syndrome | ClinVar Annotator: match by term: GPSM2-Related Disorders |
ClinVar |
PMID:24033266 PMID:25741868 PMID:28492532 |
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NCBI chr 2:196,296,350...196,326,914
Ensembl chr 2:196,296,393...196,326,913
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G |
Gpsm2 |
G-protein signaling modulator 2 |
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ISO |
ClinVar Annotator: match by term: Chudley-McCullough syndrome | ClinVar Annotator: match by term: Deafness, autosomal recessive 82 | ClinVar Annotator: match by term: Deafness, bilateral sensorineural, and hydrocephalus due to foramen of monro obstruction | ClinVar Annotator: match by term: GPSM2-Related Disorders CTD Direct Evidence: marker/mechanism DNA:deletion, transversion mutations:cds,splice junction:c.1471delG,c.741delC,c.1661C>A,c.1062+1G>T (human); |
OMIM ClinVar CTD RGD |
PMID:9536098 PMID:10449658 PMID:17576681 PMID:20602914 PMID:21348867 PMID:22578326 PMID:22987632 PMID:23208854 PMID:23494849 PMID:24033266 PMID:25741868 PMID:26445815 PMID:26467025 PMID:27312216 PMID:28492532 PMID:32747562 PMID:22578326 More...
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RGD:11062393 |
NCBI chr 2:196,327,149...196,375,322
Ensembl chr 2:196,327,149...196,375,154
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G |
Pcsk7 |
proprotein convertase subtilisin/kexin type 7 |
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ISO |
ClinVar Annotator: match by term: Corpus callosum lipoma |
ClinVar |
PMID:25741868 |
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NCBI chr 8:46,202,079...46,224,699
Ensembl chr 8:46,202,131...46,224,705
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G |
Apc |
APC regulator of WNT signaling pathway |
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ISO |
ClinVar Annotator: match by term: Craniopharyngioma |
ClinVar |
PMID:1316610 PMID:8162022 PMID:8381579 PMID:8381581 PMID:8395941 PMID:9101302 PMID:9375853 PMID:9703421 PMID:9824584 PMID:10083733 PMID:11247896 PMID:11677205 PMID:12172928 PMID:12486240 PMID:15311282 PMID:15771908 PMID:16088911 PMID:17293347 PMID:18794146 PMID:19029688 PMID:20649969 PMID:20924072 PMID:22135120 PMID:23159591 PMID:25590978 PMID:25741868 PMID:26446593 PMID:26467025 PMID:26625971 PMID:26840078 PMID:27081525 PMID:28492532 PMID:29351919 PMID:29753700 PMID:31159747 PMID:31469036 PMID:31504825 PMID:35189564 PMID:36225625 More...
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NCBI chr18:25,828,558...25,925,511
Ensembl chr18:25,864,222...25,922,696
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G |
Braf |
B-Raf proto-oncogene, serine/threonine kinase |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24413733 |
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NCBI chr 4:68,375,484...68,510,652
Ensembl chr 4:68,384,649...68,510,463
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G |
Ctnnb1 |
catenin beta 1 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Craniopharyngioma |
CTD ClinVar |
PMID:9927029 PMID:10192393 PMID:23265383 PMID:24413733 PMID:25157968 PMID:26619011 PMID:26822237 More...
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NCBI chr 8:120,640,008...120,667,110
Ensembl chr 8:120,639,995...120,667,111
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G |
Nf1 |
neurofibromin 1 |
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ISO |
ClinVar Annotator: match by term: Craniopharyngioma |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr10:64,306,027...64,539,112
Ensembl chr10:64,306,301...64,536,658
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G |
Pdgfra |
platelet derived growth factor receptor alpha |
disease_progression |
ISO |
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RGD |
PMID:20190664 |
RGD:11080971 |
NCBI chr14:33,005,838...33,054,347
Ensembl chr14:33,005,839...33,054,335
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G |
Ptch1 |
patched 1 |
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ISO |
ClinVar Annotator: match by term: Craniopharyngioma |
ClinVar |
PMID:25741868 PMID:26467025 PMID:28492532 PMID:29230040 |
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NCBI chr17:1,542,705...1,607,730
Ensembl chr17:1,542,877...1,607,333
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G |
Sufu |
SUFU negative regulator of hedgehog signaling |
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ISO |
ClinVar Annotator: match by term: Rathke's pouch tumor |
ClinVar |
PMID:25741868 PMID:28492532 PMID:29641532 |
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NCBI chr 1:245,257,725...245,355,576
Ensembl chr 1:245,257,768...245,355,577
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G |
Tsc1 |
TSC complex subunit 1 |
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ISO |
ClinVar Annotator: match by term: Craniopharyngioma | ClinVar Annotator: match by term: Rathke's pouch tumor |
ClinVar |
PMID:22161988 PMID:25741868 PMID:28492532 PMID:29684080 |
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NCBI chr 3:11,969,547...12,018,591
Ensembl chr 3:11,979,729...12,015,674
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G |
Gli2 |
GLI family zinc finger 2 |
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ISO |
ClinVar Annotator: match by term: Culler-Jones syndrome | ClinVar Annotator: match by term: GLI2-related disorder |
OMIM ClinVar |
PMID:6726521 PMID:9536098 PMID:15994174 PMID:16327884 PMID:17576681 PMID:20685856 PMID:21204792 PMID:21416594 PMID:22967285 PMID:22978696 PMID:23408573 PMID:24744436 PMID:25741868 PMID:26334177 PMID:28492532 PMID:30629636 PMID:31292255 PMID:33057194 More...
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NCBI chr13:29,946,882...30,163,589
Ensembl chr13:29,946,809...30,163,574
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G |
Actr1a |
actin related protein 1A |
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ISO |
ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma |
ClinVar |
PMID:12068298 |
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NCBI chr 1:245,237,821...245,256,618
Ensembl chr 1:245,237,826...245,256,495
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G |
Arid2 |
AT-rich interaction domain 2 |
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ISO |
ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma |
ClinVar |
PMID:26580448 |
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NCBI chr 7:127,447,192...127,565,987
Ensembl chr 7:127,447,278...127,563,512
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G |
Arl3 |
ARF like GTPase 3 |
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ISO |
ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma |
ClinVar |
PMID:12068298 |
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NCBI chr 1:245,400,659...245,446,673
Ensembl chr 1:245,400,550...245,446,820
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G |
As3mt |
arsenite methyltransferase |
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ISO |
ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma |
ClinVar |
PMID:12068298 |
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NCBI chr 1:245,595,939...245,628,921
Ensembl chr 1:245,596,108...245,627,872
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G |
Atp5mk |
ATP synthase membrane subunit K |
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ISO |
ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma |
ClinVar |
PMID:12068298 |
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NCBI chr 1:245,973,910...245,980,702
Ensembl chr 1:245,973,914...245,980,761 Ensembl chr10:245,973,914...245,980,761
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G |
Borcs7 |
BLOC-1 related complex subunit 7 |
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ISO |
ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma |
ClinVar |
PMID:12068298 |
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NCBI chr 1:245,564,347...245,578,182
Ensembl chr 1:245,564,369...245,579,343
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G |
C1h10orf95 |
similar to human chromosome 10 open reading frame 95 |
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ISO |
ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma |
ClinVar |
PMID:12068298 |
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NCBI chr 1:245,210,228...245,212,080
Ensembl chr 1:245,210,973...245,211,602
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G |
Calhm1 |
calcium homeostasis modulator 1 |
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ISO |
ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma |
ClinVar |
PMID:12068298 |
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NCBI chr 1:246,030,269...246,032,988
Ensembl chr 1:246,030,269...246,032,988
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G |
Calhm2 |
calcium homeostasis modulator family member 2 |
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ISO |
ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma |
ClinVar |
PMID:12068298 |
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NCBI chr 1:246,022,324...246,028,050
Ensembl chr 1:246,022,324...246,028,218
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G |
Calhm3 |
calcium homeostasis modulator 3 |
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ISO |
ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma |
ClinVar |
PMID:12068298 |
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NCBI chr 1:246,043,258...246,048,259
Ensembl chr 1:246,043,258...246,048,259
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G |
Cfap43 |
cilia and flagella associated protein 43 |
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ISO |
ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma |
ClinVar |
PMID:12068298 |
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NCBI chr 1:246,625,259...246,712,438
Ensembl chr 1:246,625,262...246,712,443
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G |
Cfap58 |
cilia and flagella associated protein 58 |
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ISO |
ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma |
ClinVar |
PMID:12068298 |
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NCBI chr 1:246,802,691...246,911,363
Ensembl chr 1:246,802,665...246,911,374
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G |
Cnnm2 |
cyclin and CBS domain divalent metal cation transport mediator 2 |
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ISO |
ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma |
ClinVar |
PMID:12068298 |
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NCBI chr 1:245,643,682...245,769,542
Ensembl chr 1:245,643,768...245,763,286
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G |
Col17a1 |
collagen type XVII alpha 1 chain |
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ISO |
ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma |
ClinVar |
PMID:12068298 |
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NCBI chr 1:246,530,589...246,577,559
Ensembl chr 1:246,531,367...246,577,632
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G |
Ctcf |
CCCTC-binding factor |
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ISO |
ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma |
ClinVar |
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NCBI chr19:33,521,726...33,571,124
Ensembl chr19:33,529,319...33,571,123
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G |
Cyp17a1 |
cytochrome P450, family 17, subfamily a, polypeptide 1 |
|
ISO |
ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma |
ClinVar |
PMID:12068298 |
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NCBI chr 1:245,535,462...245,543,148
Ensembl chr 1:245,535,462...245,541,573
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G |
Gsto1 |
glutathione S-transferase omega 1 |
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ISO |
ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma |
ClinVar |
PMID:12068298 |
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NCBI chr 1:246,721,089...246,731,228
Ensembl chr 1:246,721,221...246,731,468
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G |
Gsto2 |
glutathione S-transferase omega 2 |
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ISO |
ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma |
ClinVar |
PMID:12068298 |
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NCBI chr 1:246,731,314...246,757,592
Ensembl chr 1:246,732,089...246,753,866
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G |
Ina |
internexin neuronal intermediate filament protein, alpha |
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ISO |
ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma |
ClinVar |
PMID:12068298 |
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NCBI chr 1:245,896,775...245,908,330
Ensembl chr 1:245,896,775...245,908,330
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G |
Itprip |
inositol 1,4,5-trisphosphate receptor interacting protein |
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ISO |
ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma |
ClinVar |
PMID:12068298 |
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NCBI chr 1:246,762,804...246,786,379
Ensembl chr 1:246,762,472...246,786,408
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G |
Mfsd13a |
major facilitator superfamily domain containing 13A |
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ISO |
ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma |
ClinVar |
PMID:12068298 |
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NCBI chr 1:245,216,610...245,236,314
Ensembl chr 1:245,217,067...245,236,767
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G |
Neurl1 |
neuralized E3 ubiquitin protein ligase 1 |
|
ISO |
ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma |
ClinVar |
PMID:12068298 |
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NCBI chr 1:246,066,830...246,152,890
Ensembl chr 1:246,067,100...246,152,903
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G |
Nt5c2 |
5'-nucleotidase, cytosolic II |
|
ISO |
ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma |
ClinVar |
PMID:12068298 |
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NCBI chr 1:245,770,993...245,896,925
Ensembl chr 1:245,772,277...245,897,913
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G |
Pcgf6 |
polycomb group ring finger 6 |
|
ISO |
ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma |
ClinVar |
PMID:12068298 |
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NCBI chr 1:245,925,354...245,944,964
Ensembl chr 1:245,925,360...245,944,914
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G |
Pdcd11 |
programmed cell death 11 |
|
ISO |
ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma |
ClinVar |
PMID:12068298 |
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NCBI chr 1:245,980,840...246,021,999
Ensembl chr 1:245,980,880...246,021,999
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G |
Sfr1 |
SWI5-dependent homologous recombination repair protein 1 |
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ISO |
ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma |
ClinVar |
PMID:12068298 |
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NCBI chr 1:246,619,235...246,623,250
Ensembl chr 1:246,597,044...246,623,250
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G |
Sfxn2 |
sideroflexin 2 |
|
ISO |
ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma |
ClinVar |
PMID:12068298 |
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NCBI chr 1:245,447,014...245,459,312
Ensembl chr 1:245,447,015...245,468,411 Ensembl chr 1:245,447,015...245,468,411
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G |
Sh3pxd2a |
SH3 and PX domains 2A |
|
ISO |
ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma |
ClinVar |
PMID:12068298 |
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NCBI chr 1:246,153,660...246,359,806
Ensembl chr 1:246,160,502...246,360,166
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G |
Slk |
STE20-like kinase |
|
ISO |
ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma |
ClinVar |
PMID:12068298 |
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NCBI chr 1:246,473,712...246,529,643
Ensembl chr 1:246,473,712...246,526,530
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G |
Sorcs3 |
sortilin-related VPS10 domain containing receptor 3 |
|
ISO |
ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma |
ClinVar |
PMID:12068298 |
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NCBI chr 1:247,099,178...247,734,027
Ensembl chr 1:247,099,408...247,734,027
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G |
Stn1 |
STN1 subunit of CST complex |
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ISO |
ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma |
ClinVar |
PMID:12068298 |
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NCBI chr 1:246,391,311...246,429,844
Ensembl chr 1:246,395,613...246,429,531
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G |
Sufu |
SUFU negative regulator of hedgehog signaling |
|
ISO |
ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma |
ClinVar |
PMID:12068298 |
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NCBI chr 1:245,257,725...245,355,576
Ensembl chr 1:245,257,768...245,355,577
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G |
Taf5 |
TATA-box binding protein associated factor 5 |
|
ISO |
ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma |
ClinVar |
PMID:12068298 |
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NCBI chr 1:245,958,428...245,973,914
Ensembl chr 1:245,958,428...245,973,914
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G |
Trim8 |
tripartite motif-containing 8 |
|
ISO |
ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma |
ClinVar |
PMID:12068298 |
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NCBI chr 1:245,369,632...245,384,513
Ensembl chr 1:245,369,632...245,384,513
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G |
Wbp1l |
WW domain binding protein 1-like |
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ISO |
ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma |
ClinVar |
PMID:12068298 |
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NCBI chr 1:245,472,292...245,528,627
Ensembl chr 1:245,472,296...245,528,627
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G |
Brip1 |
BRCA1 interacting DNA helicase 1 |
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ISO |
ClinVar Annotator: match by term: Diffuse intrinsic pontine glioma |
ClinVar |
PMID:16116424 PMID:16116426 PMID:16973432 PMID:18510924 PMID:19099189 PMID:19150983 PMID:19379763 PMID:19442249 PMID:19519404 PMID:20639400 PMID:20980836 PMID:21345144 PMID:22024395 PMID:22287629 PMID:22582397 PMID:23161009 PMID:23276657 PMID:23644138 PMID:23935105 PMID:24448499 PMID:24487782 PMID:24573678 PMID:24728327 PMID:24895130 PMID:25374583 PMID:25583461 PMID:25741868 PMID:26315354 PMID:26596371 PMID:26689913 PMID:26790966 PMID:26921362 PMID:27107905 PMID:28492532 PMID:28911102 PMID:29922827 PMID:30322717 PMID:31265121 PMID:31341520 PMID:31822495 PMID:32427313 PMID:32542039 PMID:33028645 PMID:33471991 PMID:33619228 PMID:34585738 More...
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NCBI chr10:70,907,266...71,031,502
Ensembl chr10:70,907,371...71,030,324
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G |
Nf1 |
neurofibromin 1 |
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ISO |
ClinVar Annotator: match by term: Diffuse intrinsic pontine glioma |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr10:64,306,027...64,539,112
Ensembl chr10:64,306,301...64,536,658
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G |
Alk |
ALK receptor tyrosine kinase |
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ISO |
ClinVar Annotator: match by term: Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 6:22,879,653...23,599,636
Ensembl chr 6:22,880,625...23,598,034
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G |
Brca2 |
BRCA2, DNA repair associated |
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ISO |
ClinVar Annotator: match by term: Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype |
ClinVar |
PMID:25741868 PMID:26467025 PMID:28492532 |
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NCBI chr12:59,492...103,789
Ensembl chr12:59,819...100,567
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G |
Cdk4 |
cyclin-dependent kinase 4 |
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ISO |
ClinVar Annotator: match by term: Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 7:62,886,124...62,889,562
Ensembl chr 7:62,883,105...62,942,403
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G |
Fanca |
FA complementation group A |
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ISO |
ClinVar Annotator: match by term: Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype |
ClinVar |
PMID:25741868 |
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NCBI chr19:51,304,126...51,362,586
Ensembl chr19:51,304,021...51,362,527
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G |
Fgfr3 |
fibroblast growth factor receptor 3 |
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ISO |
ClinVar Annotator: match by term: Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr14:76,987,242...77,002,671
Ensembl chr14:76,987,993...77,003,341
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G |
Idh1 |
isocitrate dehydrogenase (NADP(+)) 1 |
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ISO |
ClinVar Annotator: match by term: Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype |
ClinVar |
PMID:25741868 |
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NCBI chr 9:66,534,146...66,563,703
Ensembl chr 9:66,534,146...66,563,708
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G |
Kdm5b |
lysine demethylase 5B |
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ISO |
ClinVar Annotator: match by term: Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype |
ClinVar |
PMID:25741868 |
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NCBI chr13:46,001,589...46,073,868
Ensembl chr13:46,002,542...46,073,872
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G |
Nf1 |
neurofibromin 1 |
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ISO |
ClinVar Annotator: match by term: Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype |
ClinVar |
PMID:25741868 PMID:26740943 PMID:28492532 PMID:31882575 |
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NCBI chr10:64,306,027...64,539,112
Ensembl chr10:64,306,301...64,536,658
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G |
Palb2 |
partner and localizer of BRCA2 |
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ISO |
ClinVar Annotator: match by term: Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype |
ClinVar |
PMID:25741868 |
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NCBI chr 1:176,665,076...176,689,053
Ensembl chr 1:176,665,076...176,688,990
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G |
Pms2 |
PMS1 homolog 2, mismatch repair system component |
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ISO |
ClinVar Annotator: match by term: Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype |
ClinVar |
PMID:23435383 PMID:25741868 PMID:28492532 PMID:35451539 |
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NCBI chr12:10,676,818...10,701,161
Ensembl chr12:10,676,764...10,701,066
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G |
Ret |
ret proto-oncogene |
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ISO |
ClinVar Annotator: match by term: Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype |
ClinVar |
PMID:22648184 PMID:25741868 PMID:28492532 PMID:28946813 PMID:31159747 PMID:32091409 PMID:33981013 More...
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NCBI chr 4:151,325,969...151,368,176
Ensembl chr 4:151,326,431...151,368,176
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G |
Sdha |
succinate dehydrogenase complex flavoprotein subunit A |
|
ISO |
ClinVar Annotator: match by term: Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 1:28,935,965...28,960,936
Ensembl chr 1:28,940,164...28,961,535
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G |
Tp53 |
tumor protein p53 |
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ISO |
ClinVar Annotator: match by term: Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype |
ClinVar |
PMID:1349175 PMID:1565143 PMID:1565144 PMID:1631137 PMID:8401536 PMID:8402598 PMID:8425176 PMID:8718514 PMID:8829627 PMID:11370630 PMID:11782540 PMID:12826609 PMID:15958617 PMID:16206219 PMID:16818505 PMID:17015838 PMID:17606709 PMID:19012332 PMID:19468865 PMID:20407015 PMID:21059199 PMID:21305319 PMID:21343334 PMID:21519010 PMID:21761402 PMID:22186996 PMID:22672556 PMID:22915647 PMID:23161690 PMID:23246812 PMID:24573247 PMID:24857548 PMID:25186627 PMID:25584008 PMID:25619955 PMID:25741868 PMID:25952993 PMID:26014290 PMID:26230955 PMID:26585234 PMID:26619011 PMID:26845104 PMID:26878390 PMID:26911350 PMID:27077130 PMID:27276561 PMID:27463065 PMID:27680515 PMID:27895058 PMID:27959731 PMID:28369373 PMID:28472496 PMID:28492532 PMID:28975465 PMID:29581140 PMID:29979965 PMID:30224644 PMID:30327374 PMID:30709381 PMID:30816478 PMID:32000721 PMID:32475984 PMID:33407742 More...
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NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
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G |
Tspan31 |
tetraspanin 31 |
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ISO |
ClinVar Annotator: match by term: Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 7:62,889,552...62,892,428
Ensembl chr 7:62,889,552...62,898,388
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G |
Braf |
B-Raf proto-oncogene, serine/threonine kinase |
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ISO |
DNA:mutation:cds:p.V600E(human) |
RGD |
PMID:25346165 |
RGD:11567238 |
NCBI chr 4:68,375,484...68,510,652
Ensembl chr 4:68,384,649...68,510,463
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G |
Amhr2 |
anti-Mullerian hormone receptor type 2 |
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ISO |
protein:increased expression:ovary |
RGD |
PMID:17988723 |
RGD:2315651 |
NCBI chr 7:133,579,152...133,588,874
Ensembl chr 7:133,579,393...133,588,258
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G |
Brca1 |
BRCA1, DNA repair associated |
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ISO |
ClinVar Annotator: match by term: Dysgerminoma |
ClinVar |
PMID:9150151 PMID:11376024 PMID:16683254 PMID:19491284 PMID:20104584 PMID:21204799 PMID:23479189 PMID:23536787 PMID:24010542 PMID:24312913 PMID:24372583 PMID:24728189 PMID:25741868 PMID:26295337 PMID:26296701 PMID:26467025 PMID:26822237 PMID:27062684 PMID:27836010 PMID:28492532 PMID:28993434 PMID:29446198 PMID:29907814 PMID:30078507 PMID:30130155 PMID:30322717 PMID:30702160 PMID:30720863 PMID:31159747 PMID:32885271 PMID:33471991 More...
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NCBI chr10:86,417,441...86,477,762
Ensembl chr10:86,418,000...86,477,304
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G |
Fgfr2 |
fibroblast growth factor receptor 2 |
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ISO |
associated with Acrocephalosyndactylia (MeSH:D000168) |
RGD |
PMID:17243131 |
RGD:2289660 |
NCBI chr 1:184,745,418...184,850,655
Ensembl chr 1:184,745,420...184,850,626
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G |
Inha |
inhibin subunit alpha |
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ISO |
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RGD |
PMID:11720904 |
RGD:2290380 |
NCBI chr 9:76,994,465...76,997,366
Ensembl chr 9:76,993,589...76,997,248
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G |
Kit |
KIT proto-oncogene receptor tyrosine kinase |
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ISO |
ClinVar Annotator: match by term: Dysgerminoma |
ClinVar RGD |
PMID:7479840 PMID:7530509 PMID:7691885 PMID:8589724 PMID:9438854 PMID:9827716 PMID:9990072 PMID:10362788 PMID:11276010 PMID:11380399 PMID:11493470 PMID:15790786 PMID:15972446 PMID:16352739 PMID:16384925 PMID:16731599 PMID:16912224 PMID:17259998 PMID:18024392 PMID:18955458 PMID:18986703 PMID:19164557 PMID:19262599 PMID:19865100 PMID:20147452 PMID:21642685 PMID:21689725 PMID:21690468 PMID:22504184 PMID:23582185 PMID:23714533 PMID:24045550 PMID:25157968 PMID:25741868 PMID:26158763 PMID:26822237 PMID:27777718 PMID:28492532 PMID:10362788 More...
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RGD:2292181 |
NCBI chr14:32,547,459...32,624,694
Ensembl chr14:32,548,877...32,624,652
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G |
Pou5f1 |
POU class 5 homeobox 1 |
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ISO |
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RGD |
PMID:15371950 |
RGD:2292443 |
NCBI chr20:3,223,128...3,227,891
Ensembl chr20:3,223,129...3,227,891
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G |
Set |
Set nuclear proto-oncogene |
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ISO |
ClinVar Annotator: match by term: Dysgerminoma |
ClinVar |
PMID:26822237 |
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NCBI chr 3:13,334,564...13,345,598
Ensembl chr 3:13,335,041...13,363,567
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G |
St14 |
ST14 transmembrane serine protease matriptase |
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ISO |
protein:increased expression:ovary |
RGD |
PMID:16439987 |
RGD:2315091 |
NCBI chr 8:29,540,805...29,581,704
Ensembl chr 8:29,540,811...29,581,517
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G |
Bcl7c |
BAF chromatin remodeling complex subunit BCL7C |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26075792 |
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NCBI chr 1:182,277,163...182,324,274
Ensembl chr 1:182,260,164...182,324,163
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G |
Ephb2 |
Eph receptor B2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26075792 |
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NCBI chr 5:148,889,574...149,077,027
Ensembl chr 5:148,897,246...149,077,059
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G |
Gdnf |
glial cell derived neurotrophic factor |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19138852 |
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NCBI chr 2:56,894,022...56,919,935
Ensembl chr 2:56,895,010...56,917,209
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G |
Igf2 |
insulin-like growth factor 2 |
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ISO |
mRNA:increased expression:cerebellum |
RGD |
PMID:18478565 |
RGD:5509961 |
NCBI chr 1:197,814,409...197,831,802
Ensembl chr 1:197,814,410...197,823,018
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G |
Rab3a |
RAB3A, member RAS oncogene family |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26075792 |
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NCBI chr16:18,684,185...18,688,297
Ensembl chr16:18,684,188...18,688,336
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G |
Rtbdn |
retbindin |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26075792 |
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NCBI chr19:23,197,506...23,205,544
Ensembl chr19:23,197,506...23,204,438
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G |
Shc3 |
SHC adaptor protein 3 |
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ISO |
DNA:amplification:brain: |
RGD |
PMID:19748727 |
RGD:13782069 |
NCBI chr17:13,652,247...13,772,710
Ensembl chr17:13,651,202...13,772,710
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G |
Zfp668 |
zinc finger protein 668 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26075792 |
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NCBI chr 1:182,474,633...182,484,957
Ensembl chr 1:182,474,633...182,492,878
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G |
Ace |
angiotensin I converting enzyme |
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ISO |
DNA:deletion:intron:IVS16+1464-1751del (human) |
RGD |
PMID:20488708 |
RGD:11039024 |
NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131
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G |
Cand2 |
cullin-associated and neddylation-dissociated 2 (putative) |
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ISO |
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RGD |
PMID:31426861 |
RGD:18899564 |
NCBI chr 4:148,835,050...148,864,039
Ensembl chr 4:148,835,053...148,863,153
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G |
Aip |
aryl-hydrocarbon receptor-interacting protein |
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ISO |
ClinVar Annotator: match by term: Familial isolated pituitary adenoma |
ClinVar |
PMID:22720333 PMID:24050928 PMID:25741868 PMID:26186299 PMID:26792934 PMID:28492532 PMID:29074612 More...
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NCBI chr 1:201,408,002...201,419,220
Ensembl chr 1:201,407,288...201,419,122
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G |
Alk |
ALK receptor tyrosine kinase |
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ISO |
ClinVar Annotator: match by term: Familial isolated pituitary adenoma |
ClinVar |
PMID:9536098 PMID:17576681 PMID:21838707 PMID:22072639 PMID:23104988 PMID:25741868 PMID:28492532 PMID:32984025 More...
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NCBI chr 6:22,879,653...23,599,636
Ensembl chr 6:22,880,625...23,598,034
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G |
Gnai2 |
G protein subunit alpha i2 |
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ISO |
ClinVar Annotator: match by term: Familial isolated pituitary adenoma |
ClinVar |
PMID:25741868 |
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NCBI chr 8:108,288,401...108,309,009
Ensembl chr 8:108,288,401...108,308,979
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G |
Klln |
killin, p53-regulated DNA replication inhibitor |
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ISO |
ClinVar Annotator: match by term: Meningioma, familial, susceptibility to |
ClinVar |
PMID:25741868 PMID:26467025 PMID:27535533 |
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G |
Lztr1 |
leucine zipper like post translational regulator 1 |
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ISO |
ClinVar Annotator: match by term: Familial multiple meningioma |
ClinVar |
PMID:25741868 |
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NCBI chr11:83,487,717...83,503,896
Ensembl chr11:83,487,717...83,503,633
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G |
Mn1 |
MN1 proto-oncogene, transcriptional regulator |
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ISO |
ClinVar Annotator: match by term: Familial meningioma | ClinVar Annotator: match by term: Meningioma, familial, susceptibility to CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:22451504 PMID:22965664 PMID:25741868 PMID:31834374 PMID:32790267 |
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NCBI chr12:45,181,794...45,220,959
Ensembl chr12:45,183,085...45,221,651
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G |
Nf2 |
NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor |
|
ISO |
ClinVar Annotator: match by term: Familial meningioma | ClinVar Annotator: match by term: Meningioma, familial, susceptibility to CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:1479598 PMID:7759081 PMID:8012353 PMID:8081368 PMID:9466988 PMID:9536098 PMID:9931334 PMID:10712203 PMID:11448944 PMID:11535133 PMID:11779178 PMID:15609345 PMID:16983642 PMID:17576681 PMID:20553997 PMID:22081132 PMID:23354516 PMID:23921927 PMID:24309211 PMID:24595234 PMID:25741868 PMID:26045165 PMID:26332594 PMID:27930734 PMID:28492532 PMID:29316957 PMID:29409008 PMID:29641532 PMID:30306255 PMID:32191290 PMID:33058421 PMID:35264596 More...
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NCBI chr14:79,627,399...79,710,709
Ensembl chr14:79,627,399...79,710,667
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G |
Pdgfb |
platelet derived growth factor subunit B |
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ISO |
ClinVar Annotator: match by term: Familial meningioma CTD Direct Evidence: marker/mechanism |
ClinVar CTD OMIM |
PMID:25741868 |
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NCBI chr 7:111,539,444...111,557,984
Ensembl chr 7:111,540,345...111,557,984
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G |
Pten |
phosphatase and tensin homolog |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Familial meningioma | ClinVar Annotator: match by term: Meningioma, familial, susceptibility to |
CTD ClinVar OMIM |
PMID:9259288 PMID:9399897 PMID:9425889 PMID:9467011 PMID:9600246 PMID:9856571 PMID:10232405 PMID:10234502 PMID:10353779 PMID:10400993 PMID:10468583 PMID:10555148 PMID:10749983 PMID:10848731 PMID:10866302 PMID:10920277 PMID:10923032 PMID:11071384 PMID:11274365 PMID:11332402 PMID:11504908 PMID:11685670 PMID:11918710 PMID:12372056 PMID:12844284 PMID:12938083 PMID:14518070 PMID:14566704 PMID:15492994 PMID:16014636 PMID:16773562 PMID:17286265 PMID:17392703 PMID:17526800 PMID:17526801 PMID:17847000 PMID:17873119 PMID:17898811 PMID:17942903 PMID:18558293 PMID:18767981 PMID:18986487 PMID:19265751 PMID:19457929 PMID:20085938 PMID:20301661 PMID:20533527 PMID:20600018 PMID:20926450 PMID:21194675 PMID:21343951 PMID:21659347 PMID:21828076 PMID:21869887 PMID:21956414 PMID:22266152 PMID:22381246 PMID:22595938 PMID:22628360 PMID:22703879 PMID:23161105 PMID:23335809 PMID:23442912 PMID:23470840 PMID:23475934 PMID:23555315 PMID:23695273 PMID:23764071 PMID:23825907 PMID:23934601 PMID:24033266 PMID:24052722 PMID:24055113 PMID:24136893 PMID:24345843 PMID:24375884 PMID:24468202 PMID:24728327 PMID:24763289 PMID:24766807 PMID:24778394 PMID:25132236 PMID:25157968 PMID:25186627 PMID:25326635 PMID:25549896 PMID:25669429 PMID:25741868 PMID:25756585 PMID:25875300 PMID:25910213 PMID:25980754 PMID:26124082 PMID:26229595 PMID:26467025 PMID:26468640 PMID:26580448 PMID:26681312 PMID:26800850 PMID:26898890 PMID:27428751 PMID:27477328 PMID:27531073 PMID:27535533 PMID:28008555 PMID:28135145 PMID:28418444 PMID:28475857 PMID:28492532 PMID:28526761 PMID:28655553 PMID:28677221 PMID:29371908 PMID:29594054 PMID:29706350 PMID:29785012 PMID:29874181 PMID:30287823 PMID:30311380 PMID:30614812 PMID:30659124 PMID:31006514 PMID:31144778 PMID:31159747 PMID:31209962 PMID:31567591 PMID:32196895 PMID:32238909 PMID:32350270 PMID:32366478 PMID:32442409 PMID:32832836 PMID:32885271 PMID:33077954 PMID:33083010 PMID:33372952 PMID:33471991 PMID:33600059 PMID:33876391 PMID:33887726 PMID:34268892 PMID:35227301 PMID:35264596 PMID:35931053 PMID:36681873 PMID:36988593 PMID:38311546 More...
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NCBI chr 1:230,630,443...230,697,070
Ensembl chr 1:230,630,338...230,696,838
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G |
Schip1 |
schwannomin interacting protein 1 |
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ISO |
ClinVar Annotator: match by term: Familial meningioma |
ClinVar |
PMID:25741868 |
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NCBI chr 2:152,127,171...152,888,587
Ensembl chr 2:152,126,953...152,888,585
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G |
Smarce1 |
SWI/SNF related BAF chromatin remodeling complex subunit E1 |
susceptibility |
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Familial meningioma | ClinVar Annotator: match by term: Meningioma, familial, susceptibility to |
CTD OMIM ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:22426308 PMID:23377182 PMID:23556151 PMID:23929686 PMID:25169753 PMID:25741868 PMID:26803492 PMID:27264197 PMID:27891692 PMID:28492532 PMID:29625052 PMID:30209809 PMID:31675646 PMID:33020650 PMID:37164167 More...
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NCBI chr10:84,159,270...84,180,547
Ensembl chr10:84,159,275...84,179,989
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G |
Sufu |
SUFU negative regulator of hedgehog signaling |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Familial meningioma | ClinVar Annotator: match by term: Meningioma, familial, susceptibility to |
CTD OMIM ClinVar |
PMID:21188540 PMID:22508808 PMID:22958902 PMID:23826113 PMID:24728327 PMID:25741868 PMID:26467025 PMID:26580448 PMID:27930734 PMID:28492532 PMID:28965847 PMID:29641532 PMID:29654263 PMID:30256826 More...
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NCBI chr 1:245,257,725...245,355,576
Ensembl chr 1:245,257,768...245,355,577
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G |
Rb1 |
RB transcriptional corepressor 1 |
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ISO |
DNA:mutations:promoter, intron, exon:multiple ClinVar Annotator: match by term: Hereditary retinoblastoma |
ClinVar RGD |
PMID:7881418 PMID:8346255 PMID:8605116 PMID:8651278 PMID:9536098 PMID:9671401 PMID:10486322 PMID:10617920 PMID:10671068 PMID:11668642 PMID:12541220 PMID:15884040 PMID:16269091 PMID:17096365 PMID:17576681 PMID:18449911 PMID:18677112 PMID:22084214 PMID:25741868 PMID:25754945 PMID:28492532 PMID:17096365 More...
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RGD:8547984 |
NCBI chr15:48,371,295...48,502,473
Ensembl chr15:48,371,296...48,502,302
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G |
Kras |
KRAS proto-oncogene, GTPase |
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ISO |
mRNA:decreased expression:brain |
RGD |
PMID:19179066 |
RGD:13702872 |
NCBI chr 4:178,185,418...178,218,484
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G |
Bap1 |
BRCA1 associated deubiquitinase 1 |
|
ISO |
ClinVar Annotator: match by term: Ganglioglioma |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr16:6,446,709...6,455,535
Ensembl chr16:6,446,709...6,455,535
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Braf |
B-Raf proto-oncogene, serine/threonine kinase |
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ISO |
ClinVar Annotator: match by term: Childhood ganglioglioma |
ClinVar |
PMID:19363522 PMID:19794125 PMID:21190184 PMID:21343559 PMID:21716161 PMID:22535154 PMID:24033266 More...
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NCBI chr 4:68,375,484...68,510,652
Ensembl chr 4:68,384,649...68,510,463
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Nf1 |
neurofibromin 1 |
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ISO |
ClinVar Annotator: match by term: Ganglioglioma |
ClinVar |
PMID:7607663 PMID:10712197 PMID:15523642 PMID:16835897 PMID:16944272 PMID:18546366 PMID:19738042 PMID:23913538 PMID:24357598 PMID:25325900 PMID:25741868 PMID:26467025 PMID:27980226 PMID:28492532 PMID:31371350 PMID:34427956 PMID:34988040 More...
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NCBI chr10:64,306,027...64,539,112
Ensembl chr10:64,306,301...64,536,658
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Braf |
B-Raf proto-oncogene, serine/threonine kinase |
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ISO |
DNA:missense mutation:exon:p.V600E (human) |
RGD |
PMID:19289622 |
RGD:2315865 |
NCBI chr 4:68,375,484...68,510,652
Ensembl chr 4:68,384,649...68,510,463
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Ccnd2 |
cyclin D2 |
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ISO |
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RGD |
PMID:17167184 |
RGD:2296039 |
NCBI chr 4:159,966,883...159,989,261
Ensembl chr 4:159,962,363...159,989,495
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G |
Cdkn2a |
cyclin-dependent kinase inhibitor 2A |
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ISO |
DNA:transition:exon:142G>A |
RGD |
PMID:9554401 |
RGD:2289698 |
NCBI chr 5:103,984,949...103,992,143
Ensembl chr 5:103,984,949...104,003,149
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G |
Cdkn2a_v1 |
cyclin-dependent kinase inhibitor 2A, variant 1 |
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ISO |
DNA:transition:exon:142G>A |
RGD |
PMID:9554401 |
RGD:2289698 |
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G |
Cdkn2a_v2 |
cyclin-dependent kinase inhibitor 2A, variant 2 |
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ISO |
DNA:transition:exon:142G>A |
RGD |
PMID:9554401 |
RGD:2289698 |
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G |
Mgp |
matrix Gla protein |
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ISO |
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RGD |
PMID:1399132 |
RGD:2293578 |
NCBI chr 4:169,766,290...169,769,612
Ensembl chr 4:169,766,279...169,769,667
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G |
Pdpn |
podoplanin |
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ISO |
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RGD |
PMID:16718353 |
RGD:2292236 |
NCBI chr 5:155,601,691...155,635,656
Ensembl chr 5:155,601,691...155,635,656
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G |
Ptch1 |
patched 1 |
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ISO |
ClinVar Annotator: match by term: Germinoma |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr17:1,542,705...1,607,730
Ensembl chr17:1,542,877...1,607,333
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G |
Actr3 |
actin related protein 3 |
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ISO |
mRNA:increased expression:brain (human) |
RGD |
PMID:25682201 |
RGD:11570557 |
NCBI chr13:36,800,739...36,843,837
Ensembl chr13:36,800,093...36,844,124
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G |
Adgrb1 |
adhesion G protein-coupled receptor B1 |
treatment |
ISO |
mRNA:decreased expression:brain: |
RGD |
PMID:16244591 PMID:12507886 |
RGD:13831352, RGD:13831355 |
NCBI chr 7:106,404,827...106,476,902
Ensembl chr 7:106,404,958...106,476,902
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Adgrl4 |
adhesion G protein-coupled receptor L4 |
treatment severity |
ISO IEP |
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RGD |
PMID:27416955 PMID:23096411 PMID:23096411 |
RGD:13838664, RGD:13838665, RGD:13838665 |
NCBI chr 2:240,354,909...240,457,231
Ensembl chr 2:240,354,941...240,457,225
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G |
Akt1 |
AKT serine/threonine kinase 1 |
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ISO |
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RGD |
PMID:10802656 |
RGD:734543 |
NCBI chr 6:131,713,716...131,735,319
Ensembl chr 6:131,713,720...131,733,921
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Akt3 |
AKT serine/threonine kinase 3 |
disease_progression |
ISO |
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RGD |
PMID:27422127 |
RGD:13674164 |
NCBI chr13:88,943,708...89,225,831
Ensembl chr13:88,946,091...89,225,708
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Apc |
APC regulator of WNT signaling pathway |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:7661930 |
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NCBI chr18:25,828,558...25,925,511
Ensembl chr18:25,864,222...25,922,696
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Arrb2 |
arrestin, beta 2 |
ameliorates |
ISO |
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RGD |
PMID:34007068 |
RGD:401938608 |
NCBI chr10:55,146,887...55,154,854
Ensembl chr10:55,146,818...55,154,850
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Aspm |
assembly factor for spindle microtubules |
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ISO |
mRNA:increased expression:brain: |
RGD |
PMID:18636190 |
RGD:13439742 |
NCBI chr13:51,074,849...51,123,755
Ensembl chr13:51,074,849...51,123,755
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G |
Atm |
ATM serine/threonine kinase |
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ISO |
ClinVar Annotator: match by term: Glioblastoma |
ClinVar |
PMID:9054948 PMID:19781682 PMID:23322442 PMID:23807571 PMID:25525159 PMID:25614872 PMID:25741868 PMID:26467025 PMID:28492532 More...
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NCBI chr 8:53,828,741...53,932,773
Ensembl chr 8:53,831,093...53,932,437
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Atrx |
ATRX, chromatin remodeler |
disease_progression |
ISO |
ClinVar Annotator: match by term: Glioblastoma multiforme, somatic |
ClinVar RGD |
PMID:27478330 |
RGD:13442489 |
NCBI chr X:70,850,981...70,997,330
Ensembl chr X:70,850,981...70,997,330
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Bag3 |
BAG cochaperone 3 |
treatment |
IMP |
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RGD |
PMID:21561597 |
RGD:5687132 |
NCBI chr 1:183,103,038...183,126,862
Ensembl chr 1:183,102,871...183,126,858
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Bche |
butyrylcholinesterase |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:2317787 |
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NCBI chr 2:158,308,674...158,401,148
Ensembl chr 2:158,307,584...158,401,148
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G |
Becn1 |
beclin 1 |
disease_progression |
ISO |
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RGD |
PMID:20863706 |
RGD:6483102 |
NCBI chr10:86,231,387...86,246,742
Ensembl chr10:86,231,388...86,246,742
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G |
Bhlhe40 |
basic helix-loop-helix family, member e40 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23582323 |
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NCBI chr 4:141,618,453...141,624,154
Ensembl chr 4:141,618,476...141,624,774
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G |
Birc3 |
baculoviral IAP repeat-containing 3 |
exacerbates |
ISO |
mRNA:increased expression:brain (human) |
RGD |
PMID:31964418 |
RGD:153344516 |
NCBI chr 8:5,000,844...5,028,470
Ensembl chr 8:5,000,845...5,015,802
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G |
Bmi1 |
BMI1 proto-oncogene, polycomb ring finger |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19823589 |
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NCBI chr17:81,332,175...81,341,625
Ensembl chr17:81,332,214...81,388,690
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G |
Braf |
B-Raf proto-oncogene, serine/threonine kinase |
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ISO |
ClinVar Annotator: match by term: Glioblastoma |
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:16439621 PMID:16474404 PMID:16772349 PMID:16825433 PMID:17374713 PMID:17488796 PMID:17785355 PMID:18039235 PMID:18398503 PMID:18413255 PMID:19001320 PMID:19010912 PMID:19018267 PMID:19238210 PMID:19376813 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:22310681 PMID:22351686 PMID:22356324 PMID:22389471 PMID:22448344 PMID:22536370 PMID:22586120 PMID:22608338 PMID:22649091 PMID:22663011 PMID:22735384 PMID:22743296 PMID:22773810 PMID:22805292 PMID:22972589 PMID:22997239 PMID:23020132 PMID:23031422 PMID:23251002 PMID:23302800 PMID:23325582 PMID:23470635 PMID:23524406 PMID:23549875 PMID:23614898 PMID:23685455 PMID:23812671 PMID:23833300 PMID:23845441 PMID:23918947 PMID:24033266 PMID:24107445 PMID:24163374 PMID:24388723 PMID:24508103 PMID:24512911 PMID:24576830 PMID:24583796 PMID:24586605 PMID:24594804 PMID:24670642 PMID:24717435 PMID:25024077 PMID:25079330 PMID:25157968 PMID:25370471 PMID:25463315 PMID:25741868 PMID:25950823 PMID:25989278 PMID:26619011 PMID:26678033 PMID:28492532 PMID:28854169 PMID:29925953 PMID:31891627 PMID:33040082 PMID:34476331 More...
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NCBI chr 4:68,375,484...68,510,652
Ensembl chr 4:68,384,649...68,510,463
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G |
Brd2 |
bromodomain containing 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27388964 |
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NCBI chr20:4,727,078...4,735,389
Ensembl chr20:4,728,151...4,735,388
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G |
Brd4 |
bromodomain containing 4 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26455392 PMID:27388964 |
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NCBI chr 7:11,216,446...11,296,029
Ensembl chr 7:11,216,446...11,295,539
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G |
Brd7 |
bromodomain containing 7 |
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ISO |
protein:increased expression:brain: |
RGD |
PMID:24404152 |
RGD:9586441 |
NCBI chr19:18,708,792...18,737,497
Ensembl chr19:18,709,022...18,737,494
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C8h11orf65 |
similar to human chromosome 11 open reading frame 65 |
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ISO |
ClinVar Annotator: match by term: Glioblastoma |
ClinVar |
PMID:9054948 PMID:19781682 PMID:23322442 PMID:23807571 PMID:25525159 PMID:25614872 PMID:25741868 PMID:26467025 PMID:28492532 More...
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NCBI chr 8:53,796,033...53,825,277
Ensembl chr 8:53,796,366...53,824,748
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G |
Cbx6 |
chromobox 6 |
disease_progression |
ISO |
mRNA,protein:decreased expression:astrocyte: |
RGD |
PMID:24260522 |
RGD:9587354 |
NCBI chr 7:111,372,979...111,383,026
Ensembl chr 7:111,372,980...111,383,091
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G |
Cbx7 |
chromobox 7 |
disease_progression |
ISO |
mRNA,protein:decreased expression:astrocyte: |
RGD |
PMID:24260522 |
RGD:9587354 |
NCBI chr 7:111,460,656...111,479,231
Ensembl chr 7:111,460,656...111,477,973
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G |
Cbx8 |
chromobox 8 |
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ISO |
mRNA:increased expression:astrocyte: |
RGD |
PMID:24260522 |
RGD:9587354 |
NCBI chr10:104,294,518...104,296,956
Ensembl chr10:104,294,518...104,297,024
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G |
Ccnh |
cyclin H |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30705370 |
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NCBI chr 2:15,835,064...15,855,648
Ensembl chr 2:15,834,833...15,855,819
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G |
Cd9 |
CD9 molecule |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26573230 |
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NCBI chr 4:158,256,328...158,289,136
Ensembl chr 4:158,256,328...158,289,222
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G |
Cdk4 |
cyclin-dependent kinase 4 |
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ISO |
DNA:amplication |
RGD |
PMID:23796897 |
RGD:13702089 |
NCBI chr 7:62,886,124...62,889,562
Ensembl chr 7:62,883,105...62,942,403
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G |
Cdk6 |
cyclin-dependent kinase 6 |
severity |
ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:20534551 PMID:10884881 |
RGD:13702095 |
NCBI chr 4:30,637,650...30,829,688
Ensembl chr 4:30,646,460...30,829,634
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G |
Cdkn2a |
cyclin-dependent kinase inhibitor 2A |
treatment |
ISO |
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RGD |
PMID:10720483 |
RGD:8552659 |
NCBI chr 5:103,984,949...103,992,143
Ensembl chr 5:103,984,949...104,003,149
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G |
Cdkn2a_v1 |
cyclin-dependent kinase inhibitor 2A, variant 1 |
treatment |
ISO |
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RGD |
PMID:10720483 |
RGD:8552659 |
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G |
Chaf1b |
chromatin assembly factor 1 subunit B |
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ISO |
protein:increased expression:brain: |
RGD |
PMID:24039914 |
RGD:9587472 |
NCBI chr11:33,200,894...33,221,076
Ensembl chr11:33,200,981...33,221,070
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G |
Chi3l1 |
chitinase 3 like 1 |
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ISO |
mRNA:increased expression:brain, tumor (human) CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:21029458 PMID:11161003 |
RGD:4892621 |
NCBI chr13:45,641,802...45,649,787
Ensembl chr13:45,641,802...45,649,787
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G |
Cpe |
carboxypeptidase E |
disease_progression |
ISO |
mRNA, protein:decreased expression:brain tumor (human) |
RGD |
PMID:22249620 |
RGD:405650684 |
NCBI chr16:25,030,276...25,142,231
Ensembl chr16:25,030,276...25,142,233
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G |
Cpeb1 |
cytoplasmic polyadenylation element binding protein 1 |
disease_progression |
IMP |
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RGD |
PMID:23360795 |
RGD:9685152 |
NCBI chr 1:135,300,048...135,407,688
Ensembl chr 1:135,300,461...135,409,760
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G |
Crebbp |
CREB binding protein |
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ISO |
ClinVar Annotator: match by term: Glioblastoma |
ClinVar |
PMID:21390126 PMID:21680795 PMID:21796119 PMID:22832583 PMID:23334668 PMID:23685749 PMID:23778141 PMID:25741868 PMID:26087898 PMID:26619011 PMID:27257180 PMID:28492532 PMID:28970362 PMID:29551561 PMID:33560380 More...
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NCBI chr10:11,335,551...11,461,888
Ensembl chr10:11,335,953...11,461,888
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G |
Csta |
cystatin A |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22287159 |
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NCBI chr11:64,620,483...64,631,488
Ensembl chr11:64,620,483...64,631,488
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G |
Cstb |
cystatin B |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22287159 |
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NCBI chr20:10,245,462...10,247,505
Ensembl chr20:10,245,462...10,247,526
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G |
Ctnnd2 |
catenin delta 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23917401 |
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NCBI chr 2:81,168,525...82,016,495
Ensembl chr 2:81,167,117...82,015,764
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G |
Ctsb |
cathepsin B |
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ISO |
protein:increased expression:glioma cell (human) CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:22287159 PMID:17898873 |
RGD:2315515 |
NCBI chr15:37,389,636...37,410,508
Ensembl chr15:37,389,629...37,410,500
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G |
Ctsh |
cathepsin H |
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ISO |
protein:increased expression:brain |
RGD |
PMID:8640738 |
RGD:1549417 |
NCBI chr 8:90,608,941...90,627,824
Ensembl chr 8:90,608,941...90,627,824
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G |
Ctsk |
cathepsin K |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25356585 |
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NCBI chr 2:183,058,586...183,069,551
Ensembl chr 2:183,058,569...183,069,550
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G |
Deup1 |
deuterosome assembly protein 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30705370 |
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NCBI chr 8:12,380,300...12,442,649
Ensembl chr 8:12,380,302...12,442,199
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G |
Dmbt1 |
deleted in malignant brain tumors 1 |
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ISO |
DNA:deletion |
RGD |
PMID:9288095 |
RGD:1599778 |
NCBI chr 1:185,617,469...185,696,476
Ensembl chr 1:185,617,294...185,696,478
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G |
Dnmt3a |
DNA methyltransferase 3 alpha |
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ISO |
ClinVar Annotator: match by term: Glioblastoma |
ClinVar |
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NCBI chr 6:26,791,517...26,902,161
Ensembl chr 6:26,822,609...26,896,687
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G |
Dusp6 |
dual specificity phosphatase 6 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21499306 |
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NCBI chr 7:34,092,848...34,097,186
Ensembl chr 7:34,092,943...34,097,185
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G |
E2f1 |
E2F transcription factor 1 |
disease_progression |
ISO |
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RGD |
PMID:16264179 |
RGD:13702471 |
NCBI chr 3:143,064,535...143,075,362
Ensembl chr 3:143,049,478...143,075,361
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G |
Egf |
epidermal growth factor |
susceptibility |
ISO |
CTD Direct Evidence: marker/mechanism DNA:polymorphism:promoter:+61A>G(human) |
CTD RGD |
PMID:16598420 PMID:22481252 |
RGD:13702472 |
NCBI chr 2:218,219,408...218,302,359
Ensembl chr 2:218,219,415...218,302,064
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G |
Egfr |
epidermal growth factor receptor |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Glioblastoma | ClinVar Annotator: match by term: Glioblastoma multiforme, somatic |
CTD ClinVar |
PMID:2302402 PMID:15118073 PMID:15118125 PMID:15329413 PMID:15710947 PMID:15738541 PMID:16011858 PMID:16115929 PMID:17177598 PMID:18199554 PMID:18458038 PMID:19204207 PMID:19536777 PMID:19671738 PMID:19922469 PMID:20479403 PMID:21531810 PMID:21841502 PMID:22753918 PMID:23102728 PMID:23242437 PMID:23917401 PMID:23945392 PMID:24033266 PMID:25157968 PMID:26455392 PMID:26619011 PMID:28492532 PMID:31396478 More...
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NCBI chr14:91,176,979...91,349,722
Ensembl chr14:91,177,067...91,344,382
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G |
Enpp1 |
ectonucleotide pyrophosphatase/phosphodiesterase 1 |
severity |
ISO |
protein:increased expression:brain (human) |
RGD |
PMID:21195542 |
RGD:13204719 |
NCBI chr 1:20,698,746...20,763,741
Ensembl chr 1:20,698,764...20,763,715
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G |
Ezh2 |
enhancer of zeste 2 polycomb repressive complex 2 subunit |
treatment |
ISO |
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RGD |
PMID:25595591 |
RGD:14928319 |
NCBI chr 4:76,624,399...76,687,362
Ensembl chr 4:76,624,399...76,687,362
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G |
Fabp7 |
fatty acid binding protein 7 |
severity |
ISO |
mRNA, protein:increased expression:brain (human) |
RGD |
PMID:15827123 |
RGD:1578468 |
NCBI chr20:37,123,193...37,126,725
Ensembl chr20:37,123,193...37,126,880
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G |
Fam83d |
family with sequence similarity 83, member D |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:35150198 |
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NCBI chr 3:147,421,941...147,441,211
Ensembl chr 3:147,421,908...147,441,192
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G |
Fat1 |
FAT atypical cadherin 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23354438 |
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NCBI chr16:47,177,253...47,296,261
Ensembl chr16:47,177,248...47,296,107
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G |
Fbxw7 |
F-box and WD repeat domain containing 7 |
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ISO |
ClinVar Annotator: match by term: Glioblastoma |
ClinVar |
PMID:26619011 |
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NCBI chr 2:170,149,706...170,311,536
Ensembl chr 2:170,149,694...170,309,941
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G |
Fgfr1 |
Fibroblast growth factor receptor 1 |
|
ISO |
ClinVar Annotator: match by term: Glioblastoma |
ClinVar |
PMID:25705862 PMID:26619011 PMID:26942290 PMID:33448156 |
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NCBI chr16:66,491,930...66,547,161
Ensembl chr16:66,494,042...66,547,350
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Flt3lg |
Fms related receptor tyrosine kinase 3 ligand |
treatment |
ISO |
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RGD |
PMID:18079358 |
RGD:11049502 |
NCBI chr 1:95,615,056...95,620,463
Ensembl chr 1:95,609,370...95,620,463
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Fn1 |
fibronectin 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17099729 |
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NCBI chr 9:73,196,044...73,264,695
Ensembl chr 9:73,196,044...73,264,678
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G |
Fosl2 |
FOS like 2, AP-1 transcription factor subunit |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23582323 |
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NCBI chr 6:24,297,898...24,319,219
Ensembl chr 6:24,300,956...24,320,034
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Fxn |
frataxin |
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ISO |
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RGD |
PMID:21863062 |
RGD:401793715 |
NCBI chr 1:221,874,007...221,897,543
Ensembl chr 1:221,872,420...221,897,540
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Gdnf |
glial cell derived neurotrophic factor |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19138852 |
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NCBI chr 2:56,894,022...56,919,935
Ensembl chr 2:56,895,010...56,917,209
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G |
Grik2 |
glutamate ionotropic receptor kainate type subunit 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30705370 |
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NCBI chr20:52,135,325...52,833,061
Ensembl chr20:52,133,851...52,838,375
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Gstt1 |
glutathione S-transferase theta 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16874663 |
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NCBI chr20:12,856,613...12,873,586
Ensembl chr20:12,856,669...12,873,585
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G |
H2ax |
H2A.X variant histone |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26651356 |
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NCBI chr 8:44,671,907...44,673,262
Ensembl chr 8:44,671,786...44,673,239 Ensembl chr 4:44,671,786...44,673,239
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H3f3a |
H3.3 histone A |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Glioblastoma |
CTD ClinVar |
PMID:22286216 PMID:23817572 PMID:26619011 PMID:26822237 |
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NCBI chr13:92,533,289...92,544,902
Ensembl chr13:92,533,298...92,544,908
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G |
Heatr1 |
HEAT repeat containing 1 |
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ISO |
mRNA, protein:increased expression:brain |
RGD |
PMID:25126583 |
RGD:10761721 |
NCBI chr17:58,053,288...58,093,895
Ensembl chr17:58,051,700...58,093,948
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G |
Hes1 |
hes family bHLH transcription factor 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21127729 |
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NCBI chr11:70,705,763...70,708,176
Ensembl chr11:70,705,764...70,708,192
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G |
Hey1 |
hes-related family bHLH transcription factor with YRPW motif 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21127729 |
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NCBI chr 2:93,096,605...93,100,316
Ensembl chr 2:93,095,498...93,100,312
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G |
Hif1a |
hypoxia inducible factor 1 subunit alpha |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:12811834 |
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NCBI chr 6:92,624,059...92,669,262
Ensembl chr 6:92,624,390...92,669,261
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G |
Hoxd10 |
homeo box D10 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:34737577 |
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NCBI chr 3:59,594,516...59,597,725
Ensembl chr 3:59,594,516...59,597,725
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Hras |
HRas proto-oncogene, GTPase |
severity |
ISO |
DNA:missense mutation:cds:p.G61L(human) ClinVar Annotator: match by term: Glioblastoma ClinVar Annotator: match by term: Glioblastoma | ClinVar Annotator: match by term: Glioblastoma, somatic |
ClinVar RGD |
PMID:11150980 PMID:16155195 PMID:16170316 PMID:16329078 PMID:16372351 PMID:16443854 PMID:16835863 PMID:16881968 PMID:16969868 PMID:17054105 PMID:17412879 PMID:17601930 PMID:17979197 PMID:18039947 PMID:18042262 PMID:18247425 PMID:18978862 PMID:19206176 PMID:19371735 PMID:19382114 PMID:19669404 PMID:20301680 PMID:20660566 PMID:20979192 PMID:21686750 PMID:21834037 PMID:21850009 PMID:22087699 PMID:22317973 PMID:22420426 PMID:22495892 PMID:22499344 PMID:22683711 PMID:22926243 PMID:23093928 PMID:23429430 PMID:23751039 PMID:24033266 PMID:24129065 PMID:24169525 PMID:24224811 PMID:24803665 PMID:25157968 PMID:25741868 PMID:25914166 PMID:26467025 PMID:26619011 PMID:27195699 PMID:27589201 PMID:28027064 PMID:28139825 PMID:28492532 PMID:29493581 PMID:31222966 PMID:31394527 PMID:31775759 PMID:33372952 PMID:34008892 PMID:20879984 PMID:19179066 More...
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RGD:13702475, RGD:13702872 |
NCBI chr 1:196,290,127...196,299,823
Ensembl chr 1:196,296,263...196,300,615
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Idh1 |
isocitrate dehydrogenase (NADP(+)) 1 |
disease_progression onset |
ISO |
DNA:mutation:cds:p.R132(human) ClinVar Annotator: match by term: Glioblastoma | ClinVar Annotator: match by term: Glioblastoma, somatic DNA:mutation:cds:p.R132H(human) |
ClinVar RGD |
PMID:18772396 PMID:19657110 PMID:19798509 PMID:19818334 PMID:20946881 PMID:21352804 PMID:21446021 PMID:22160010 PMID:22397365 PMID:22417203 PMID:22898539 PMID:23558169 PMID:24606448 PMID:25043048 PMID:25157968 PMID:25741868 PMID:26619011 PMID:27993330 PMID:30231226 PMID:36201590 PMID:25495392 PMID:19765000 More...
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RGD:11074562, RGD:11522732 |
NCBI chr 9:66,534,146...66,563,703
Ensembl chr 9:66,534,146...66,563,708
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Il16 |
interleukin 16 |
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IEP |
protein:increased expression:brain |
RGD |
PMID:17221335 |
RGD:5024941 |
NCBI chr 1:137,617,702...137,718,022
Ensembl chr 1:137,617,944...137,718,130
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Il1b |
interleukin 1 beta |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16356833 |
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NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
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G |
Il2 |
interleukin 2 |
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ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:7719933 |
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NCBI chr 2:120,004,862...120,009,566
Ensembl chr 2:120,004,862...120,009,566
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G |
Jag1 |
jagged canonical Notch ligand 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21127729 |
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NCBI chr 3:124,406,783...124,442,220
Ensembl chr 3:124,406,794...124,442,209
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G |
Jag2 |
jagged canonical Notch ligand 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21127729 |
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NCBI chr 6:131,983,059...132,005,665
Ensembl chr 6:131,983,056...132,005,818
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G |
Kcnc2 |
potassium voltage-gated channel subfamily C member 2 |
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ISO |
mRNA:splice variant (human) |
RGD |
PMID:18474104 |
RGD:9686067 |
NCBI chr 7:47,700,035...47,883,979
Ensembl chr 7:47,700,288...47,883,968
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G |
Kdr |
kinase insert domain receptor |
treatment |
ISO |
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RGD |
PMID:26325365 |
RGD:11529678 |
NCBI chr14:32,217,871...32,261,018
Ensembl chr14:32,217,871...32,261,018
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G |
Kras |
KRAS proto-oncogene, GTPase |
treatment |
ISO |
mRNA:decreased expression:brain |
RGD |
PMID:16166301 PMID:19179066 |
RGD:13702861, RGD:13702872 |
NCBI chr 4:178,185,418...178,218,484
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L1cam |
L1 cell adhesion molecule |
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ISO |
mRNA:decreased expression:brain, temporal lobe (human) |
RGD |
PMID:20419098 |
RGD:6483067 |
NCBI chr X:151,597,270...151,623,776
Ensembl chr X:151,597,277...151,623,857
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G |
Lrrc56 |
leucine rich repeat containing 56 |
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ISO |
ClinVar Annotator: match by term: Glioblastoma |
ClinVar |
PMID:11150980 PMID:16155195 PMID:16170316 PMID:16329078 PMID:16372351 PMID:16443854 PMID:16835863 PMID:16881968 PMID:16969868 PMID:17054105 PMID:17412879 PMID:17601930 PMID:17979197 PMID:18039947 PMID:18042262 PMID:18247425 PMID:18978862 PMID:19206176 PMID:19371735 PMID:19382114 PMID:19669404 PMID:20301680 PMID:20660566 PMID:20979192 PMID:21686750 PMID:21834037 PMID:21850009 PMID:22087699 PMID:22317973 PMID:22420426 PMID:22495892 PMID:22499344 PMID:22683711 PMID:22926243 PMID:23093928 PMID:23429430 PMID:23751039 PMID:24033266 PMID:24129065 PMID:24169525 PMID:24224811 PMID:24803665 PMID:25157968 PMID:25741868 PMID:25914166 PMID:26467025 PMID:26619011 PMID:27195699 PMID:27589201 PMID:28027064 PMID:28139825 PMID:28492532 PMID:29493581 PMID:31222966 PMID:31394527 PMID:31775759 PMID:33372952 PMID:34008892 More...
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NCBI chr 1:196,299,843...196,315,170
Ensembl chr 1:196,299,846...196,315,172
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G |
Lrrc59 |
leucine rich repeat containing 59 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30705370 |
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NCBI chr10:79,572,295...79,586,953
Ensembl chr10:79,572,317...79,602,533
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G |
Ltbp4 |
latent transforming growth factor beta binding protein 4 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27270107 |
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NCBI chr 1:82,600,136...82,634,346
Ensembl chr 1:82,600,136...82,632,178
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G |
Lztr1 |
leucine zipper like post translational regulator 1 |
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ISO |
CTD Direct Evidence: marker/mechanism DNA:mutations:multiple (human) |
CTD RGD |
PMID:23917401 PMID:23917401 |
RGD:151708722 |
NCBI chr11:83,487,717...83,503,896
Ensembl chr11:83,487,717...83,503,633
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G |
Macir |
macrophage immunometabolism regulator |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30705370 |
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NCBI chr 9:98,420,760...98,440,818
Ensembl chr 9:98,420,376...98,441,733
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G |
Map1lc3a |
microtubule-associated protein 1 light chain 3 alpha |
treatment |
ISO |
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RGD |
PMID:24905460 |
RGD:11561946 |
NCBI chr 3:143,783,024...143,784,670
Ensembl chr 3:143,783,024...143,784,670
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G |
Map2k2 |
mitogen activated protein kinase kinase 2 |
treatment |
ISO |
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RGD |
PMID:26189368 |
RGD:13702862 |
NCBI chr 7:8,590,729...8,610,279
Ensembl chr 7:8,580,905...8,610,243
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G |
Map2k3 |
mitogen activated protein kinase kinase 3 |
disease_progression |
ISO |
protein:increased expression, increased phosphorylation:brain |
RGD |
PMID:17406030 |
RGD:1641940 |
NCBI chr10:45,608,145...45,629,492
Ensembl chr10:45,607,163...45,629,492
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G |
Mdm2 |
MDM2 proto-oncogene |
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ISO |
DNA:amplication |
RGD |
PMID:23796897 |
RGD:13702089 |
NCBI chr 7:53,290,660...53,315,205
Ensembl chr 7:53,290,664...53,314,915
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G |
Mdm4 |
MDM4 regulator of p53 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20472715 |
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NCBI chr13:44,432,596...44,516,165
Ensembl chr13:44,406,213...44,474,226
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Med12 |
mediator complex subunit 12 |
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ISO |
ClinVar Annotator: match by term: Glioblastoma |
ClinVar |
PMID:26822237 |
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NCBI chr X:66,404,807...66,427,775
Ensembl chr X:66,404,760...66,428,387
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G |
Met |
MET proto-oncogene, receptor tyrosine kinase |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22162573 |
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NCBI chr 4:45,790,456...45,898,139
Ensembl chr 4:45,790,791...45,897,876
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G |
Mgmt |
O-6-methylguanine-DNA methyltransferase |
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ISO |
DNA:transition:cds:p.L84F (human) CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:20131314 PMID:22162573 PMID:14669534 |
RGD:2317667 |
NCBI chr 1:191,710,980...191,937,760
Ensembl chr 1:191,710,930...191,937,756
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G |
Mir21 |
microRNA 21 |
ameliorates |
IMP |
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RGD |
PMID:31730913 |
RGD:41404645 |
NCBI chr10:71,405,257...71,405,348
Ensembl chr10:71,405,257...71,405,348
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G |
Mir31 |
microRNA 31 |
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ISO |
RNA:decreased expression:brain (human) |
RGD |
PMID:22089331 |
RGD:152998941 |
NCBI chr 5:103,599,038...103,599,143
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G |
Mmp2 |
matrix metallopeptidase 2 |
severity |
ISO |
protein:increased expression:brain (human) CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:16598420 PMID:7616276 |
RGD:7207145 |
NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870
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G |
Mmp7 |
matrix metallopeptidase 7 |
severity |
ISO |
protein:increased expression:brain (human) |
RGD |
PMID:7616276 |
RGD:7207145 |
NCBI chr 8:4,848,186...4,855,908
Ensembl chr 8:4,848,186...4,855,902
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G |
Mmp9 |
matrix metallopeptidase 9 |
severity treatment |
ISO |
protein:increased expression:brain (human) CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:16598420 PMID:7616276 PMID:12439751 |
RGD:7207145, RGD:8547973 |
NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
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G |
Msh2 |
mutS homolog 2 |
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ISO |
ClinVar Annotator: match by term: Glioblastoma |
ClinVar |
PMID:25741868 |
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NCBI chr 6:6,813,793...6,872,960
Ensembl chr 6:6,813,795...6,872,938
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G |
Mtor |
mechanistic target of rapamycin kinase |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Glioblastoma |
CTD ClinVar |
PMID:20190810 PMID:22729223 PMID:24631838 PMID:25599672 PMID:25741868 PMID:25799227 PMID:26018084 PMID:26619011 PMID:27159400 PMID:27830187 PMID:28492532 PMID:28864461 PMID:28892148 PMID:29281825 PMID:30705370 More...
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NCBI chr 5:158,884,856...158,994,311
Ensembl chr 5:158,884,804...158,994,311
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G |
Myc |
MYC proto-oncogene, bHLH transcription factor |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21127729 |
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NCBI chr 7:93,593,705...93,598,633
Ensembl chr 7:93,593,705...93,598,630
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G |
Mycn |
MYCN proto-oncogene, bHLH transcription factor |
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ISO |
ClinVar Annotator: match by term: Glioblastoma |
ClinVar |
PMID:26619011 |
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NCBI chr 6:35,717,764...35,723,590
Ensembl chr 6:35,717,764...35,723,590
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G |
Ncor1 |
nuclear receptor co-repressor 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17312396 |
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NCBI chr10:46,999,536...47,142,294
Ensembl chr10:46,999,536...47,141,032
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G |
Ndrg1 |
N-myc downstream regulated 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15341671 |
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NCBI chr 7:98,684,487...98,725,869
Ensembl chr 7:98,684,487...98,725,880
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G |
Ndrg4 |
NDRG family member 4 |
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ISO |
mRNA, protein:decreased expression:brain |
RGD |
PMID:22489821 |
RGD:7247726 |
NCBI chr19:9,351,408...9,387,398
Ensembl chr19:9,351,404...9,386,914
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G |
Nf1 |
neurofibromin 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25119042 |
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NCBI chr10:64,306,027...64,539,112
Ensembl chr10:64,306,301...64,536,658
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G |
Nfkbia |
NFKB inhibitor alpha |
treatment |
ISO |
human cell line in a mouse model |
RGD |
PMID:15692608 |
RGD:127285387 |
NCBI chr 6:72,858,713...72,861,941
Ensembl chr 6:72,858,712...72,861,941
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G |
Notch1 |
notch receptor 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21127729 |
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NCBI chr 3:9,277,955...9,323,531
Ensembl chr 3:9,278,086...9,323,531
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G |
Notch2 |
notch receptor 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21127729 |
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NCBI chr 2:185,610,594...185,744,088
Ensembl chr 2:185,610,589...185,744,088
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G |
Notch3 |
notch receptor 3 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21127729 |
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NCBI chr 7:11,132,984...11,184,025
Ensembl chr 7:11,133,706...11,184,025
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G |
Nras |
NRAS proto-oncogene, GTPase |
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ISO |
DNA:mutation:cds:c.35G>A, p.G12D(human) ClinVar Annotator: match by term: Glioblastoma DNA:amplication:: |
ClinVar RGD |
PMID:1654209 PMID:2278970 PMID:2674680 PMID:3122217 PMID:6587382 PMID:8120410 PMID:10821536 PMID:12460918 PMID:12727991 PMID:14508525 PMID:15899789 PMID:16273091 PMID:16291983 PMID:16434492 PMID:17699718 PMID:18390968 PMID:18633438 PMID:18668139 PMID:18948947 PMID:19075190 PMID:19657110 PMID:19880792 PMID:19966803 PMID:20130576 PMID:20149136 PMID:20179705 PMID:20406486 PMID:20619739 PMID:20736745 PMID:21107323 PMID:21305640 PMID:21576590 PMID:21729679 PMID:21829508 PMID:22407852 PMID:22499344 PMID:22718121 PMID:22761467 PMID:22773810 PMID:23076151 PMID:23392294 PMID:23400451 PMID:23414587 PMID:23515407 PMID:23538902 PMID:23569304 PMID:23614898 PMID:24006476 PMID:24033266 PMID:24148783 PMID:24370118 PMID:24671188 PMID:25157968 PMID:25348872 PMID:25695684 PMID:25741868 PMID:26619011 PMID:26821351 PMID:27050078 PMID:28492532 PMID:28780248 PMID:15517309 PMID:11351043 More...
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RGD:13702875, RGD:13702876 |
NCBI chr 2:190,582,885...190,593,509
Ensembl chr 2:190,582,918...190,591,626
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Pdgfb |
platelet derived growth factor subunit B |
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ISO |
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RGD |
PMID:21210235 |
RGD:6482799 |
NCBI chr 7:111,539,444...111,557,984
Ensembl chr 7:111,540,345...111,557,984
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G |
Pdgfrb |
platelet derived growth factor receptor beta |
treatment |
ISO |
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RGD |
PMID:24566984 |
RGD:13702903 |
NCBI chr18:54,499,962...54,538,840
Ensembl chr18:54,499,964...54,538,843
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G |
Pdpn |
podoplanin |
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ISO |
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RGD |
PMID:16979138 |
RGD:2292241 |
NCBI chr 5:155,601,691...155,635,656
Ensembl chr 5:155,601,691...155,635,656
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G |
Pecam1 |
platelet and endothelial cell adhesion molecule 1 |
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ISO |
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RGD |
PMID:21858729 |
RGD:6771207 |
NCBI chr10:91,590,521...91,652,279
Ensembl chr10:91,590,521...91,652,116
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G |
Pgf |
placental growth factor |
disease_progression |
ISO |
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RGD |
PMID:20458050 |
RGD:6483585 |
NCBI chr 6:104,816,102...104,826,685
Ensembl chr 6:104,816,104...104,826,685
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G |
Pik3ca |
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha |
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ISO |
ClinVar Annotator: match by term: Glioblastoma | ClinVar Annotator: match by term: Glioblastoma multiforme |
ClinVar |
PMID:15016963 PMID:15254419 PMID:15520168 PMID:15608678 PMID:15647370 PMID:15805248 PMID:15930273 PMID:16339315 PMID:16353168 PMID:16906227 PMID:16930767 PMID:17376864 PMID:17673550 PMID:18074223 PMID:18371219 PMID:18676830 PMID:18725974 PMID:19029981 PMID:19223544 PMID:19366826 PMID:19513541 PMID:19671852 PMID:19903786 PMID:20177704 PMID:20453058 PMID:20581867 PMID:20593314 PMID:20619739 PMID:21078999 PMID:21430269 PMID:21558396 PMID:21824802 PMID:22120714 PMID:22162582 PMID:22162589 PMID:22209294 PMID:22271473 PMID:22357840 PMID:22370636 PMID:22658544 PMID:22729222 PMID:22729223 PMID:22729224 PMID:22949682 PMID:23066039 PMID:23100325 PMID:23246288 PMID:23408298 PMID:23888070 PMID:23946963 PMID:24033266 PMID:24265155 PMID:24559322 PMID:24782230 PMID:25157968 PMID:25599672 PMID:25681199 PMID:25741868 PMID:25880439 PMID:25915946 PMID:26266975 PMID:26266985 PMID:26619011 PMID:26627007 PMID:26637981 PMID:26822237 PMID:26851524 PMID:27126994 PMID:27283355 PMID:27626068 PMID:27631024 PMID:28151489 PMID:28425981 PMID:28492532 PMID:28941273 PMID:29296277 PMID:29446767 PMID:29661094 PMID:29758562 PMID:29988677 PMID:30063105 PMID:30376034 PMID:30543347 PMID:31536475 PMID:31568861 PMID:31775759 PMID:32778138 PMID:34008892 PMID:34496175 PMID:34568242 PMID:34606700 PMID:36474027 PMID:37667289 PMID:37712948 More...
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NCBI chr 2:115,175,275...115,249,034
Ensembl chr 2:115,174,984...115,249,032
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G |
Pik3cb |
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta |
disease_progression |
ISO |
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RGD |
PMID:26956052 PMID:21188471 |
RGD:11343921, RGD:13782050 |
NCBI chr 8:99,594,600...99,699,772
Ensembl chr 8:99,594,644...99,699,663
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G |
Pik3cd |
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta |
disease_progression |
ISO |
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RGD |
PMID:24523440 |
RGD:13782051 |
NCBI chr 5:160,094,952...160,142,962
Ensembl chr 5:160,094,952...160,120,930
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G |
Pik3r1 |
phosphoinositide-3-kinase regulatory subunit 1 |
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ISO |
ClinVar Annotator: match by term: Glioblastoma |
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