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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G |
Abcb1b |
ATP-binding cassette, sub-family B member 1B |
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IDA |
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RGD |
PMID:16574265 |
RGD:1598564 |
NCBI chr 4:25,242,761...25,325,194
Ensembl chr 4:25,242,798...25,325,199
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G |
Acvr1 |
activin A receptor type 1 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Brainstem glioma |
CTD ClinVar |
PMID:818090 PMID:7068725 PMID:19085907 PMID:19330033 PMID:22977237 PMID:24705251 PMID:24705252 PMID:24705254 PMID:25326637 PMID:25741868 PMID:26619011 PMID:28492532 PMID:29307777 PMID:31012264 PMID:33973349 More...
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NCBI chr 3:42,978,558...43,097,892
Ensembl chr 3:42,978,561...43,098,241
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G |
Adgra2 |
adhesion G protein-coupled receptor A2 |
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ISO |
ClinVar Annotator: match by term: Ependymoma |
ClinVar |
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NCBI chr16:64,932,964...64,971,433
Ensembl chr16:64,933,315...64,971,483
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G |
Akt2 |
AKT serine/threonine kinase 2 |
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ISO IDA |
protein:increased expression:cytoplasm (human) |
RGD |
PMID:19330838 PMID:19330838 |
RGD:2313297, RGD:2313297 |
NCBI chr 1:82,877,228...82,933,828
Ensembl chr 1:82,883,547...82,933,817
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G |
Amotl1 |
angiomotin-like 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:34480788 |
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NCBI chr 8:11,348,651...11,467,564
Ensembl chr 8:11,353,674...11,467,573
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G |
Angpt2 |
angiopoietin 2 |
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IEP |
protein:increased expression:brain (rat) |
RGD |
PMID:18615861 |
RGD:2314189 |
NCBI chr16:71,088,364...71,138,805
Ensembl chr16:71,088,364...71,138,804
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G |
Apod |
apolipoprotein D |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16865689 |
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NCBI chr11:69,431,261...69,452,306
Ensembl chr11:69,431,260...69,452,305
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G |
Araf |
A-Raf proto-oncogene, serine/threonine kinase |
disease_progression |
ISO |
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RGD |
PMID:27852048 |
RGD:13702476 |
NCBI chr X:1,227,392...1,292,356
Ensembl chr X:1,227,392...1,239,073
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G |
Areg |
amphiregulin |
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IMP |
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RGD |
PMID:8621257 |
RGD:2292668 |
NCBI chr14:16,972,185...16,981,443
Ensembl chr14:16,972,187...16,981,535
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G |
Arhgap32 |
Rho GTPase activating protein 32 |
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ISO |
ClinVar Annotator: match by term: Ependymoma |
ClinVar |
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NCBI chr 8:30,421,269...30,681,653
Ensembl chr 8:30,421,515...30,678,454
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G |
Arid1b |
AT-rich interaction domain 1B |
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ISO |
ClinVar Annotator: match by term: Astrocytoma |
ClinVar |
PMID:25741868 |
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NCBI chr 1:45,567,991...45,923,644
Ensembl chr 1:45,563,623...45,923,493
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G |
Arl2 |
ADP-ribosylation factor like GTPase 2 |
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ISO |
ClinVar Annotator: match by term: Ependymoma |
ClinVar |
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NCBI chr 1:203,434,129...203,446,156
Ensembl chr 1:203,434,129...203,446,119
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G |
Aspm |
assembly factor for spindle microtubules |
disease_progression |
ISO |
mRNA:increased expression:brain: |
RGD |
PMID:20142996 |
RGD:13442488 |
NCBI chr13:51,074,849...51,123,755
Ensembl chr13:51,074,849...51,123,755
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G |
Atf5 |
activating transcription factor 5 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28861715 |
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NCBI chr 1:95,295,602...95,299,755
Ensembl chr 1:95,295,610...95,299,707
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G |
Atg2a |
autophagy related 2A |
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ISO |
ClinVar Annotator: match by term: Ependymoma |
ClinVar |
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NCBI chr 1:203,542,559...203,562,242
Ensembl chr 1:203,542,559...203,562,242
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G |
Atg7 |
autophagy related 7 |
treatment |
IDA |
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RGD |
PMID:25542083 |
RGD:11557994 |
NCBI chr 4:147,718,663...147,925,656
Ensembl chr 4:147,718,752...147,925,593
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G |
Atm |
ATM serine/threonine kinase |
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ISO |
ClinVar Annotator: match by term: Malignant glioma |
ClinVar |
PMID:8659541 PMID:8808599 PMID:9000145 PMID:9463314 PMID:10330348 PMID:10817650 PMID:10980530 PMID:11298136 PMID:12552559 PMID:21445571 PMID:21459046 PMID:21792198 PMID:25741868 PMID:26681312 PMID:28492532 PMID:29478780 PMID:30549301 PMID:33471991 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 |
Atp1b2 |
ATPase Na+/K+ transporting subunit beta 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16865689 |
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NCBI chr10:54,318,698...54,324,933
Ensembl chr10:54,318,701...54,324,933
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G |
Atrx |
ATRX, chromatin remodeler |
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ISO |
DNA:mutations: :multiple CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:23583981 PMID:24705251 PMID:23104868 |
RGD:11040587 |
NCBI chr X:70,850,981...70,997,330
Ensembl chr X:70,850,981...70,997,330
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G |
Bad |
BCL2-associated agonist of cell death |
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IEP ISO |
protein:increased phosphorylation:brain (rat) ClinVar Annotator: match by term: Ependymoma |
ClinVar RGD |
PMID:16944316 |
RGD:2292675 |
NCBI chr 1:204,133,502...204,142,829
Ensembl chr 1:204,131,501...204,142,823
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G |
Banp |
Btg3 associated nuclear protein |
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ISO |
ClinVar Annotator: match by term: Ependymoma |
ClinVar |
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NCBI chr19:50,007,710...50,082,742
Ensembl chr19:50,007,881...50,082,738
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G |
Bap1 |
BRCA1 associated deubiquitinase 1 |
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ISO |
ClinVar Annotator: match by term: Astrocytoma |
ClinVar |
PMID:25741868 |
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NCBI chr16:6,446,709...6,455,535
Ensembl chr16:6,446,709...6,455,535
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G |
Barhl1 |
BarH-like homeobox 1 |
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ISO |
protein:increased expression:brain: |
RGD |
PMID:28956815 |
RGD:14390165 |
NCBI chr 3:12,241,327...12,248,649
Ensembl chr 3:12,241,327...12,248,649
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G |
Batf2 |
basic leucine zipper ATF-like transcription factor 2 |
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ISO |
ClinVar Annotator: match by term: Ependymoma |
ClinVar |
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NCBI chr 1:203,467,291...203,479,428
Ensembl chr 1:203,468,097...203,475,889
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G |
Bcan |
brevican |
severity |
IDA ISO IEP |
protein:increased expression:brain: |
RGD |
PMID:11585735 PMID:16061654 PMID:23253190 PMID:12799382 |
RGD:14392783, RGD:14392797, RGD:14392804, RGD:14392782 |
NCBI chr 2:173,454,479...173,467,717
Ensembl chr 2:173,454,482...173,467,460
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G |
Bdkrb2 |
bradykinin receptor B2 |
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IEP |
mRNA:increased expression:brain |
RGD |
PMID:20080302 |
RGD:4891047 |
NCBI chr 6:124,472,317...124,502,497
Ensembl chr 6:124,472,566...124,502,497
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G |
Birc5 |
baculoviral IAP repeat-containing 5 |
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IEP |
protein:increased expression:brain |
RGD |
PMID:17701349 |
RGD:2293131 |
NCBI chr10:103,072,530...103,081,382
Ensembl chr10:103,073,408...103,081,380
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G |
Bmi1 |
BMI1 proto-oncogene, polycomb ring finger |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23383216 |
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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 |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Brainstem glioma |
CTD 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:23583981 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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G |
Brca2 |
BRCA2, DNA repair associated |
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ISO |
ClinVar Annotator: match by term: Brainstem glioma | ClinVar Annotator: match by term: Glioma susceptibility 1 | ClinVar Annotator: match by term: Glioma susceptibility 3 | ClinVar Annotator: match by term: Glioma susceptibility 9 ClinVar Annotator: match by term: Brainstem glioma | ClinVar Annotator: match by term: Glioma susceptibility 3 CTD Direct Evidence: marker/mechanism |
ClinVar CTD OMIM |
PMID:251866 PMID:278235 PMID:2200631 PMID:8589730 PMID:8673090 PMID:8988179 PMID:9150154 PMID:9150172 PMID:9150174 PMID:9536098 PMID:9667259 PMID:9792861 PMID:10399947 PMID:10570174 PMID:10638982 PMID:10644434 PMID:10660329 PMID:10682686 PMID:10699917 PMID:10790213 PMID:10874312 PMID:10978364 PMID:11062481 PMID:11149425 PMID:11179017 PMID:11207042 PMID:11307153 PMID:11389159 PMID:11400546 PMID:11504767 PMID:11556836 PMID:11597388 PMID:11754111 PMID:11802209 PMID:11843247 PMID:11857748 PMID:11897832 PMID:11927503 PMID:11929857 PMID:12065746 PMID:12097290 PMID:12142080 PMID:12181777 PMID:12215251 PMID:12373604 PMID:12474142 PMID:12556369 PMID:12655567 PMID:12845657 PMID:12955716 PMID:12960223 PMID:14555511 PMID:14559878 PMID:14647210 PMID:14670928 PMID:15024741 PMID:15070707 PMID:15131399 PMID:15168169 PMID:15235023 PMID:15290653 PMID:15340362 PMID:15382066 PMID:15689453 PMID:15695382 PMID:15800311 PMID:15887246 PMID:16030099 PMID:16115142 PMID:16168118 PMID:16168123 PMID:16199547 PMID:16234499 PMID:16284991 PMID:16389418 PMID:16455195 PMID:16489001 PMID:16683254 PMID:16758124 PMID:16760289 PMID:16825431 PMID:16847550 PMID:16905680 PMID:16912212 PMID:16920162 PMID:16978908 PMID:17011978 PMID:17063270 PMID:17148771 PMID:17262179 PMID:17301269 PMID:17513806 PMID:17574839 PMID:17576681 PMID:17636422 PMID:17688236 PMID:17767707 PMID:17924331 PMID:17925560 PMID:17972171 PMID:18042939 PMID:18182994 PMID:18284688 PMID:18375895 PMID:18393245 PMID:18424508 PMID:18446624 PMID:18451181 PMID:18465347 PMID:18489799 PMID:18497862 PMID:18547621 PMID:18607349 PMID:18694767 PMID:18703817 PMID:18704680 PMID:18752448 PMID:18821011 PMID:18951461 PMID:19016756 PMID:19043619 PMID:19241424 PMID:19353265 PMID:19491284 PMID:19530235 PMID:19620486 PMID:19654294 PMID:19656164 PMID:19861517 PMID:19863560 PMID:19941162 PMID:19941167 PMID:19949876 PMID:19967274 PMID:20033483 PMID:20104584 PMID:20135345 PMID:20167696 PMID:20373018 PMID:20383589 PMID:20406929 PMID:20616022 PMID:20694749 PMID:20736950 PMID:20858050 PMID:21120943 PMID:21205087 PMID:21232165 PMID:21324516 PMID:21356067 PMID:21394826 PMID:21520273 PMID:21523855 PMID:21559243 PMID:21643751 PMID:21673748 PMID:21702907 PMID:21709188 PMID:21913181 PMID:21918853 PMID:21952622 PMID:21990134 PMID:22006311 PMID:22009639 PMID:22085629 PMID:22109874 PMID:22144684 PMID:22217648 PMID:22426013 PMID:22430266 PMID:22476429 PMID:22505045 PMID:22535016 PMID:22632462 PMID:22666503 PMID:22682623 PMID:22703879 PMID:22752604 PMID:22762150 PMID:22798144 PMID:22848303 PMID:22875147 PMID:22923021 PMID:22970155 PMID:23028338 PMID:23035815 PMID:23096105 PMID:23108138 PMID:23110154 PMID:23146383 PMID:23199084 PMID:23231788 PMID:23233716 PMID:23318356 PMID:23415752 PMID:23451180 PMID:23469205 PMID:23479189 PMID:23569316 PMID:23613520 PMID:23621881 PMID:23683081 PMID:23725378 PMID:23767878 PMID:23884708 PMID:23929434 PMID:23942203 PMID:23961350 PMID:24013206 PMID:24033266 PMID:24052750 PMID:24055113 PMID:24123850 PMID:24141157 PMID:24156927 PMID:24212087 PMID:24249303 PMID:24301060 PMID:24312913 PMID:24323938 PMID:24504028 PMID:24528374 PMID:24549055 PMID:24556621 PMID:24607278 PMID:24618965 PMID:24728189 PMID:24728327 PMID:24737347 PMID:24814045 PMID:24817641 PMID:24830819 PMID:24884479 PMID:24916970 PMID:25066507 PMID:25085752 PMID:25136594 PMID:25146914 PMID:25186627 PMID:25236687 PMID:25274553 PMID:25330149 PMID:25348012 PMID:25371446 PMID:25382762 PMID:25428789 PMID:25447315 PMID:25452441 PMID:25476495 PMID:25480878 PMID:25525159 PMID:25556971 PMID:25637381 PMID:25682074 PMID:25685387 PMID:25737278 PMID:25741868 PMID:25782689 PMID:25802882 PMID:25863477 PMID:25884701 PMID:25927356 PMID:25948282 PMID:26022348 PMID:26026974 PMID:26046366 PMID:26064523 PMID:26187060 PMID:26219728 PMID:26287763 PMID:26295337 PMID:26360800 PMID:26425718 PMID:26436112 PMID:26439132 PMID:26467025 PMID:26541979 PMID:26543556 PMID:26580448 PMID:26657402 PMID:26681312 PMID:26687385 PMID:26689913 PMID:26733283 PMID:26757417 PMID:26786923 PMID:26834852 PMID:26845104 PMID:26852015 PMID:26933808 PMID:27000661 PMID:27060066 PMID:27062684 PMID:27153395 PMID:27157322 PMID:27165126 PMID:27257965 PMID:27271530 PMID:27376475 PMID:27425403 PMID:27433846 PMID:27469594 PMID:27535533 PMID:27553368 PMID:27732944 PMID:27741520 PMID:27767231 PMID:27831900 PMID:27836010 PMID:28008555 PMID:28039656 PMID:28111427 PMID:28176296 PMID:28243543 PMID:28281021 PMID:28283652 PMID:28294317 PMID:28324225 PMID:28339459 PMID:28349240 PMID:28423363 PMID:28477318 PMID:28492532 PMID:28503720 PMID:28541631 PMID:28616458 PMID:28657667 PMID:28664506 PMID:28692638 PMID:28715532 PMID:28724667 PMID:28726808 PMID:28825054 PMID:28831036 PMID:28905878 PMID:28915716 PMID:28918466 PMID:28973083 PMID:28993434 PMID:29061375 PMID:29084914 PMID:29088781 PMID:29161300 PMID:29176636 PMID:29192238 PMID:29215753 PMID:29321669 PMID:29325860 PMID:29335924 PMID:29335925 PMID:29339979 PMID:29348823 PMID:29360161 PMID:29368341 PMID:29371908 PMID:29383094 PMID:29394989 PMID:29433453 PMID:29446198 PMID:29470806 PMID:29478780 PMID:29483665 PMID:29489754 PMID:29492181 PMID:29506128 PMID:29566657 PMID:29625052 PMID:29752822 PMID:29753700 PMID:29790872 PMID:29884136 PMID:29884841 PMID:29907814 PMID:29909963 PMID:29915322 PMID:29988080 PMID:30014164 PMID:30078507 PMID:30093976 PMID:30122538 PMID:30128899 PMID:30199306 PMID:30203341 PMID:30254663 PMID:30274973 PMID:30287823 PMID:30309722 PMID:30322717 PMID:30350268 PMID:30415210 PMID:30472649 PMID:30548481 PMID:30606148 PMID:30612635 PMID:30623411 PMID:30630528 PMID:30652428 PMID:30696104 PMID:30702160 PMID:30720243 PMID:30720863 PMID:30787465 PMID:30792206 PMID:30875412 PMID:30972954 PMID:30982232 PMID:31090900 PMID:31112363 PMID:31131967 PMID:31143373 PMID:31159747 PMID:31174498 PMID:31191615 PMID:31209999 PMID:31214711 PMID:31263054 PMID:31263571 PMID:31325073 PMID:31331294 PMID:31343793 PMID:31360904 PMID:31396961 PMID:31411802 PMID:31444830 PMID:31447099 PMID:31451522 PMID:31569370 PMID:31589614 PMID:31642931 PMID:31721781 PMID:31742824 PMID:31825140 PMID:31837001 PMID:31843900 PMID:31871109 PMID:31892343 PMID:31911673 PMID:31948886 PMID:31957001 PMID:31980526 PMID:32029870 PMID:32098980 PMID:32101877 PMID:32164353 PMID:32190957 PMID:32295079 PMID:32300229 PMID:32318955 PMID:32338768 PMID:32341426 PMID:32354836 PMID:32393398 PMID:32398771 PMID:32426482 PMID:32427313 PMID:32438681 PMID:32444794 PMID:32467295 PMID:32486089 PMID:32521533 PMID:32532514 PMID:32571290 PMID:32581362 PMID:32658311 PMID:32710294 PMID:32719484 PMID:32720237 PMID:32772980 PMID:32778078 PMID:32806537 PMID:32824581 PMID:32846166 PMID:32853339 PMID:32862574 PMID:32875559 PMID:32885271 PMID:32923906 PMID:33008098 PMID:33087929 PMID:33113089 PMID:33309985 PMID:33372952 PMID:33461583 PMID:33471991 PMID:33478551 PMID:33608381 PMID:33609447 PMID:33629534 PMID:33670479 PMID:33773534 PMID:33801055 PMID:33918338 PMID:33964450 PMID:34008015 PMID:34022715 PMID:34097676 PMID:34196900 PMID:34298626 PMID:34399810 PMID:34413315 PMID:34567246 PMID:34597585 PMID:34645131 PMID:34657357 PMID:34657373 PMID:34687993 PMID:35220195 PMID:35264596 PMID:35353237 PMID:35451682 PMID:35535697 PMID:35714671 PMID:35753294 PMID:35949895 PMID:36119527 PMID:36232564 PMID:36329109 PMID:36370215 PMID:36988593 PMID:37349538 PMID:37461096 PMID:38417439 More...
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NCBI chr12:59,492...103,789
Ensembl chr12:59,819...100,567
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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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G |
C3 |
complement C3 |
treatment |
ISO |
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RGD |
PMID:21678475 |
RGD:7401275 |
NCBI chr 9:2,087,437...2,114,366
Ensembl chr 9:2,087,437...2,114,429
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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: Malignant glioma |
ClinVar |
PMID:8659541 PMID:8808599 PMID:9000145 PMID:9463314 PMID:10330348 PMID:10817650 PMID:10980530 PMID:11298136 PMID:12552559 PMID:21445571 PMID:21459046 PMID:21792198 PMID:25741868 PMID:26681312 PMID:28492532 PMID:29478780 PMID:30549301 PMID:33471991 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 |
Cacng2 |
calcium voltage-gated channel auxiliary subunit gamma 2 |
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ISO |
ClinVar Annotator: match by term: Ependymoma |
ClinVar |
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NCBI chr 7:109,572,838...109,698,516
Ensembl chr 7:109,574,459...109,697,227
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G |
Camk2a |
calcium/calmodulin-dependent protein kinase II alpha |
disease_progression |
ISO |
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RGD |
PMID:29393370 |
RGD:13702478 |
NCBI chr18:54,378,642...54,441,120
Ensembl chr18:54,378,784...54,438,994
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G |
Camk2b |
calcium/calmodulin-dependent protein kinase II beta |
disease_progression |
ISO |
|
RGD |
PMID:15750623 |
RGD:13702479 |
NCBI chr14:80,845,206...80,934,172
Ensembl chr14:80,845,238...80,933,994
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G |
Camkk2 |
calcium/calmodulin-dependent protein kinase kinase 2 |
disease_progression |
ISO |
|
RGD |
PMID:27012733 |
RGD:13674178 |
NCBI chr12:33,791,023...33,845,000
Ensembl chr12:33,791,052...33,843,279
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G |
Capn1 |
calpain 1 |
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ISO |
ClinVar Annotator: match by term: Ependymoma |
ClinVar |
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NCBI chr 1:203,275,912...203,300,848
Ensembl chr 1:203,277,344...203,300,177
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G |
Cat |
catalase |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21138464 |
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NCBI chr 3:89,842,393...89,874,577
Ensembl chr 3:89,842,399...89,874,478
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G |
Catsperz |
catsper channel auxiliary subunit zeta |
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ISO |
ClinVar Annotator: match by term: Ependymoma |
ClinVar |
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NCBI chr 1:204,114,816...204,118,582
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G |
Cav1 |
caveolin 1 |
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IEP |
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RGD |
PMID:22528460 |
RGD:6784517 |
NCBI chr 4:45,640,624...45,673,708
Ensembl chr 4:45,634,918...45,673,705
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G |
Cav2 |
caveolin 2 |
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IEP |
|
RGD |
PMID:22528460 |
RGD:6784517 |
NCBI chr 4:45,616,766...45,624,144
Ensembl chr 4:45,616,712...45,624,244
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G |
Ccdc88b |
coiled-coil domain containing 88B |
|
ISO |
ClinVar Annotator: match by term: Ependymoma |
ClinVar |
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NCBI chr 1:204,036,913...204,052,878
Ensembl chr 1:204,036,918...204,052,970
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G |
Ccn1 |
cellular communication network factor 1 |
exacerbates |
ISO |
human cells in mouse model |
RGD |
PMID:15026334 |
RGD:329845555 |
NCBI chr 2:234,562,410...234,565,370
Ensembl chr 2:234,562,408...234,565,484
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G |
Ccnd1 |
cyclin D1 |
susceptibility disease_progression |
ISO |
|
RGD |
PMID:22304571 PMID:21844184 PMID:21844184 |
RGD:13681930, RGD:13702091, RGD:13702091 |
NCBI chr 1:200,089,002...200,098,524
Ensembl chr 1:200,089,002...200,098,602
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G |
Ccr4 |
C-C motif chemokine receptor 4 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17522861 |
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NCBI chr 8:114,176,291...114,182,033
Ensembl chr 8:114,176,974...114,178,056
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G |
Cd40 |
CD40 molecule |
treatment |
ISO |
|
RGD |
PMID:24878890 |
RGD:11352275 |
NCBI chr 3:153,790,372...153,805,279
Ensembl chr 3:153,790,449...153,805,534
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G |
Cd80 |
Cd80 molecule |
|
IDA |
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RGD |
PMID:10078962 |
RGD:727266 |
NCBI chr11:62,254,543...62,293,414
Ensembl chr11:62,254,624...62,292,030
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G |
Cdc42bpg |
CDC42 binding protein kinase gamma |
|
ISO |
ClinVar Annotator: match by term: Ependymoma |
ClinVar |
|
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NCBI chr 1:203,608,339...203,628,502
Ensembl chr 1:203,608,574...203,628,502
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G |
Cdc42ep2 |
CDC42 effector protein 2 |
|
ISO |
ClinVar Annotator: match by term: Ependymoma |
ClinVar |
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NCBI chr 1:203,202,000...203,210,891
Ensembl chr 1:203,201,873...203,210,897
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G |
Cdca5 |
cell division cycle associated 5 |
|
ISO |
ClinVar Annotator: match by term: Ependymoma |
ClinVar |
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NCBI chr 1:203,378,550...203,392,027
Ensembl chr 1:203,378,577...203,392,023
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G |
Cdk4 |
cyclin-dependent kinase 4 |
disease_progression |
ISO |
|
RGD |
PMID:21844184 PMID:23761023 |
RGD:13702091, RGD:13702090 |
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 |
DNA:amplification: |
RGD |
PMID:22736304 PMID:9102208 |
RGD:13702093, RGD:13702094 |
NCBI chr 4:30,637,650...30,829,688
Ensembl chr 4:30,646,460...30,829,634
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G |
Cdkn1a |
cyclin-dependent kinase inhibitor 1A |
severity treatment |
ISO |
DNA:hypermethylation:promoter: |
RGD |
PMID:20844987 PMID:9144534 PMID:18791688 |
RGD:13702125, RGD:13702129, RGD:13702128 |
NCBI chr20:7,149,177...7,159,727
Ensembl chr20:7,149,217...7,159,585
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G |
Cdkn2a |
cyclin-dependent kinase inhibitor 2A |
disease_progression |
ISO |
DNA:deletions CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:15814359 PMID:19578367 PMID:11314047 |
RGD:8552305 |
NCBI chr 5:103,984,949...103,992,143
Ensembl chr 5:103,984,949...104,003,149
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G |
Cdkn2b |
cyclin-dependent kinase inhibitor 2B |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19578366 PMID:19578367 |
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NCBI chr 5:104,009,839...104,019,082
Ensembl chr 5:104,010,680...104,019,050
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G |
Chaf1a |
chromatin assembly factor 1 subunit A |
susceptibility |
ISO |
DNA:SNP:intron:rs243356(human) |
RGD |
PMID:18048407 |
RGD:9587459 |
NCBI chr 9:873,953...900,701
Ensembl chr 9:874,051...900,654
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G |
Chaf1b |
chromatin assembly factor 1 subunit B |
disease_progression |
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 |
Chek2 |
checkpoint kinase 2 |
|
ISO |
ClinVar Annotator: match by term: Astrocytoma |
ClinVar |
PMID:10617473 PMID:11053450 PMID:11479205 PMID:11719428 PMID:11967536 PMID:12094328 PMID:12533788 PMID:12690581 PMID:14648717 PMID:14648718 PMID:14648719 PMID:15087378 PMID:15095295 PMID:15122511 PMID:15466005 PMID:15488637 PMID:15492928 PMID:15520402 PMID:16257342 PMID:16492927 PMID:16880452 PMID:17085682 PMID:18172190 PMID:18381420 PMID:18759107 PMID:19338683 PMID:19768534 PMID:19805189 PMID:21779515 PMID:21807500 PMID:21876083 PMID:21956126 PMID:22006311 PMID:22058428 PMID:22419737 PMID:22811390 PMID:22994785 PMID:23109706 PMID:23469205 PMID:23652375 PMID:23946381 PMID:24033266 PMID:24713400 PMID:24884479 PMID:25431674 PMID:25583358 PMID:25741868 PMID:26467025 PMID:26845104 PMID:26884562 PMID:26976419 PMID:27223485 PMID:27269948 PMID:27433846 PMID:27711073 PMID:27751358 PMID:27798748 PMID:28135145 PMID:28195393 PMID:28492532 PMID:28503720 PMID:28514723 PMID:28727877 PMID:28734145 PMID:28779002 PMID:28802053 PMID:28874143 PMID:29351919 PMID:29489754 PMID:29522266 PMID:29909568 PMID:31300551 PMID:31993860 PMID:32119081 PMID:32285038 PMID:32295079 PMID:32383162 PMID:32531112 PMID:36222830 PMID:37055167 PMID:37149759 More...
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NCBI chr12:45,788,823...45,821,382
Ensembl chr12:45,788,827...45,821,286
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G |
Chi3l1 |
chitinase 3 like 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20506295 |
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NCBI chr13:45,641,802...45,649,787
Ensembl chr13:45,641,802...45,649,787
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G |
Clcn2 |
chloride voltage-gated channel 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:12843258 |
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NCBI chr11:80,197,741...80,211,657
Ensembl chr11:80,198,153...80,211,657
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G |
Clcn3 |
chloride voltage-gated channel 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:12843258 |
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NCBI chr16:29,127,152...29,200,133
Ensembl chr16:29,127,419...29,200,119
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G |
Clcn5 |
chloride voltage-gated channel 5 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:12843258 |
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NCBI chr X:15,185,380...15,339,977
Ensembl chr X:15,185,451...15,334,264
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G |
Cntn2 |
contactin 2 |
severity |
ISO |
mRNA, protein:increased expression:brain (human) |
RGD |
PMID:11280781 |
RGD:734799 |
NCBI chr13:43,942,868...43,975,973
Ensembl chr13:43,947,265...43,975,887
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G |
Cox8a |
cytochrome c oxidase subunit 8A |
|
ISO |
ClinVar Annotator: match by term: Ependymoma |
ClinVar |
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NCBI chr 1:204,402,118...204,404,439
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G |
Cplane1 |
ciliogenesis and planar polarity effector complex subunit 1 |
|
ISO |
ClinVar Annotator: match by term: Astrocytoma |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 2:57,269,195...57,369,580
Ensembl chr 2:57,268,884...57,369,500
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G |
Csf1 |
colony stimulating factor 1 |
|
IMP |
|
RGD |
PMID:15728459 |
RGD:2293641 |
NCBI chr 2:195,377,215...195,396,608
Ensembl chr 2:195,377,215...195,411,704
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G |
Ctsb |
cathepsin B |
|
IDA |
|
RGD |
PMID:17287256 |
RGD:2315520 |
NCBI chr15:37,389,636...37,410,508
Ensembl chr15:37,389,629...37,410,500
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G |
Cxcr3 |
C-X-C motif chemokine receptor 3 |
|
IMP |
|
RGD |
PMID:16434036 |
RGD:5135509 |
NCBI chr X:66,844,318...66,846,969
Ensembl chr X:66,844,318...66,846,969
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G |
Cyp2b1 |
cytochrome P450, family 2, subfamily b, polypeptide 1 |
|
EXP |
CTD Direct Evidence: therapeutic |
CTD |
PMID:7834628 |
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NCBI chr 1:81,518,387...81,544,999
Ensembl chr 1:81,518,408...81,542,052
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G |
Cyp2e1 |
cytochrome P450, family 2, subfamily e, polypeptide 1 |
|
ISO |
DNA:snp:promoter:c.-1053C>T (human) |
RGD |
PMID:12540498 |
RGD:1358568 |
NCBI chr 1:195,840,330...195,850,728
Ensembl chr 1:195,840,058...195,864,023
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G |
Dcn |
decorin |
disease_progression |
ISO |
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RGD |
PMID:15475879 |
RGD:2311425 |
NCBI chr 7:32,281,252...32,321,291
Ensembl chr 7:32,281,252...32,321,270
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G |
Dcx |
doublecortin |
disease_progression treatment |
ISO |
|
RGD |
PMID:17178868 PMID:21477071 PMID:19681167 |
RGD:12904748, RGD:12904761, RGD:12904754 |
NCBI chr X:107,430,767...107,573,612
Ensembl chr X:107,430,767...107,507,476
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G |
Ddr1 |
discoidin domain receptor tyrosine kinase 1 |
severity |
ISO |
mRNA, protein:increased expression:brain (human) |
RGD |
PMID:16652150 |
RGD:151347531 |
NCBI chr20:3,042,494...3,064,442
Ensembl chr20:3,044,320...3,064,468
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G |
Depdc5 |
DEP domain containing 5, GATOR1 subcomplex subunit |
|
ISO |
ClinVar Annotator: match by term: Ependymoma |
ClinVar |
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NCBI chr14:77,732,297...77,862,924
Ensembl chr14:77,732,297...77,862,794
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G |
Dlk1 |
delta like non-canonical Notch ligand 1 |
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ISO |
|
RGD |
PMID:16288219 |
RGD:1625600 |
NCBI chr 6:128,410,216...128,417,518
Ensembl chr 6:128,410,316...128,417,522
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G |
Dll4 |
delta like canonical Notch ligand 4 |
ameliorates |
ISO |
|
RGD |
PMID:17183313 |
RGD:155791441 |
NCBI chr 3:106,317,114...106,327,004
Ensembl chr 3:106,316,986...106,326,931
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G |
Dmxl1 |
Dmx-like 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16865689 |
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NCBI chr18:42,993,292...43,163,457
Ensembl chr18:42,993,340...43,163,456
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G |
Dnajc4 |
DnaJ heat shock protein family (Hsp40) member C4 |
|
ISO |
ClinVar Annotator: match by term: Ependymoma |
ClinVar |
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NCBI chr 1:204,178,189...204,182,412
Ensembl chr 1:204,178,191...204,182,387
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G |
Dpf2 |
double PHD fingers 2 |
|
ISO |
ClinVar Annotator: match by term: Ependymoma |
ClinVar |
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NCBI chr 1:203,183,674...203,199,037
Ensembl chr 1:203,183,686...203,198,983
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G |
E2f1 |
E2F transcription factor 1 |
severity |
ISO |
|
RGD |
PMID:28042322 |
RGD:13702468 |
NCBI chr 3:143,064,535...143,075,362
Ensembl chr 3:143,049,478...143,075,361
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G |
E2f3 |
E2F transcription factor 3 |
disease_progression |
ISO |
|
RGD |
PMID:28337965 |
RGD:13702470 |
NCBI chr17:34,601,756...34,679,139
Ensembl chr17:34,601,830...34,676,253
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G |
Efemp1 |
EGF containing fibulin extracellular matrix protein 1 |
|
ISO |
protein:increased expression:brain: |
RGD |
PMID:19887559 |
RGD:10401656 |
NCBI chr14:102,610,813...102,690,027
Ensembl chr14:102,610,908...102,690,018
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G |
Efl1 |
elongation factor like GTPase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25015090 |
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NCBI chr 1:136,638,527...136,763,518
Ensembl chr 1:136,638,527...136,763,518
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G |
Egf |
epidermal growth factor |
susceptibility |
ISO |
DNA:polymorphism:promoter:GG genotypes were associated with increased risk. DNA:polymorphism:promoter:+61A>G(human) |
RGD |
PMID:17473192 PMID:22106858 |
RGD:13702474, RGD:13702473 |
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 |
treatment |
ISO IMP |
protein:alternative form:tumor (human) ClinVar Annotator: match by term: Brainstem glioma |
ClinVar RGD |
PMID:17177598 PMID:26619011 PMID:7606735 PMID:10616092 |
RGD:5131512, RGD:38599219 |
NCBI chr14:91,176,979...91,349,722
Ensembl chr14:91,177,067...91,344,382
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G |
Ehbp1l1 |
EH domain binding protein 1-like 1 |
|
ISO |
ClinVar Annotator: match by term: Ependymoma |
ClinVar |
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NCBI chr 1:202,994,115...203,014,320
Ensembl chr 1:202,994,118...203,014,270
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G |
Ehd1 |
EH-domain containing 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Ependymoma |
CTD ClinVar |
PMID:35616188 |
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NCBI chr 1:203,579,850...203,602,226
Ensembl chr 1:203,579,869...203,602,212
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G |
Entpd2 |
ectonucleoside triphosphate diphosphohydrolase 2 |
|
ISO |
|
RGD |
PMID:19558578 |
RGD:9685528 |
NCBI chr 3:8,213,575...8,219,094
Ensembl chr 3:8,213,663...8,226,866
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G |
Epha5 |
EPH receptor A5 |
|
ISO |
ClinVar Annotator: match by term: Astrocytoma |
ClinVar |
PMID:25741868 |
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NCBI chr14:23,653,393...24,020,129
Ensembl chr14:23,653,393...24,017,317
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G |
Epo |
erythropoietin |
|
ISO |
|
RGD |
PMID:21749867 |
RGD:10400910 |
NCBI chr12:19,204,258...19,207,948
Ensembl chr12:19,204,508...19,207,946
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G |
Epor |
erythropoietin receptor |
|
IMP |
|
RGD |
PMID:21749867 |
RGD:10400910 |
NCBI chr 8:20,489,678...20,494,257
Ensembl chr 8:20,489,678...20,494,257
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G |
Erbb2 |
erb-b2 receptor tyrosine kinase 2 |
|
ISO |
ClinVar Annotator: match by term: Glioma susceptibility 1 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:15457249 |
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NCBI chr10:83,411,197...83,435,078
Ensembl chr10:83,411,313...83,435,078
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G |
Ercc1 |
ERCC excision repair 1, endonuclease non-catalytic subunit |
susceptibility |
ISO |
DNA:snp:3'utr:c.8092C>A (human) (rs3212986) |
RGD |
PMID:25867436 |
RGD:13207318 |
NCBI chr 1:78,971,310...79,007,963
Ensembl chr 1:78,996,390...79,007,963
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G |
Ercc2 |
ERCC excision repair 2, TFIIH core complex helicase subunit |
susceptibility |
ISO |
|
RGD |
PMID:11319176 |
RGD:10401082 |
NCBI chr 1:79,033,342...79,047,102
Ensembl chr 1:79,033,326...79,047,102
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G |
Ercc5 |
ERCC excision repair 5, endonuclease |
susceptibility |
ISO |
DNA:SNP:cd: p.D1558H (rs17655) (human) |
RGD |
PMID:23534771 |
RGD:401850601 |
NCBI chr 9:46,309,477...46,354,478
Ensembl chr 9:46,309,389...46,354,472
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G |
Esrra |
estrogen related receptor, alpha |
|
ISO |
ClinVar Annotator: match by term: Ependymoma |
ClinVar |
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NCBI chr 1:204,104,100...204,114,182
Ensembl chr 1:204,104,101...204,114,268
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G |
F2 |
coagulation factor II, thrombin |
treatment |
IMP |
|
RGD |
PMID:15975137 |
RGD:1578509 |
NCBI chr 3:77,596,196...77,609,486
Ensembl chr 3:77,596,198...77,609,486
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G |
Fam107a |
family with sequence similarity 107, member A |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16865689 |
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NCBI chr15:16,608,362...16,630,398
Ensembl chr15:16,607,205...16,630,396
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G |
Fam89b |
family with sequence similarity 89, member B |
|
ISO |
ClinVar Annotator: match by term: Ependymoma |
ClinVar |
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NCBI chr 1:203,015,772...203,017,890
Ensembl chr 1:203,015,773...203,017,367
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G |
Fancb |
FA complementation group B |
|
ISO |
ClinVar Annotator: match by term: Glioma susceptibility 1 |
ClinVar |
PMID:15502827 PMID:16199547 PMID:23613520 PMID:25741868 PMID:28492532 |
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NCBI chr X:29,403,771...29,420,484
Ensembl chr X:29,403,771...29,420,192
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G |
Fas |
Fas cell surface death receptor |
severity |
ISO |
mouse gene in a rat model |
RGD |
PMID:11440439 |
RGD:8663460 |
NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591
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G |
Fau |
FAU ubiquitin like and ribosomal protein S30 fusion |
|
ISO |
ClinVar Annotator: match by term: Ependymoma |
ClinVar |
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NCBI chr 1:203,350,226...203,351,741
Ensembl chr 1:203,350,189...203,351,742
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G |
Fbxw7 |
F-box and WD repeat domain containing 7 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18931460 |
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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 |
Fermt3 |
FERM domain containing kindlin 3 |
|
ISO |
ClinVar Annotator: match by term: Ependymoma |
ClinVar |
|
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NCBI chr 1:204,189,483...204,207,683
Ensembl chr 1:204,189,484...204,207,587
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G |
Fgf2 |
fibroblast growth factor 2 |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:10673511 |
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NCBI chr 2:120,236,328...120,290,673
Ensembl chr 2:120,236,328...120,291,221
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G |
Fgfr1 |
Fibroblast growth factor receptor 1 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Astrocytoma | ClinVar Annotator: match by term: Brainstem glioma |
CTD ClinVar |
PMID:10766980 PMID:23583981 PMID:23819449 PMID:25705862 PMID:25741868 PMID:26619011 PMID:26822237 PMID:26942290 PMID:27626068 PMID:33448156 More...
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NCBI chr16:66,491,930...66,547,161
Ensembl chr16:66,494,042...66,547,350
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G |
Flrt1 |
fibronectin leucine rich transmembrane protein 1 |
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ISO |
ClinVar Annotator: match by term: Ependymoma |
ClinVar |
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NCBI chr 1:204,275,785...204,292,844
Ensembl chr 1:204,275,367...204,353,750
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G |
Flt3lg |
Fms related receptor tyrosine kinase 3 ligand |
treatment |
ISO |
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RGD |
PMID:15564139 |
RGD:11049500 |
NCBI chr 1:95,615,056...95,620,463
Ensembl chr 1:95,609,370...95,620,463
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G |
Frmd8 |
FERM domain containing 8 |
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ISO |
ClinVar Annotator: match by term: Ependymoma |
ClinVar |
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NCBI chr 1:203,143,216...203,163,868
Ensembl chr 1:203,143,218...203,163,870
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G |
Fth1 |
ferritin heavy chain 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21385903 |
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NCBI chr 1:206,627,142...206,629,430
Ensembl chr 1:206,627,103...206,725,424
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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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Gja1 |
gap junction protein, alpha 1 |
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IMP |
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RGD |
PMID:22808518 |
RGD:7207264 |
NCBI chr20:35,756,007...35,768,481
Ensembl chr20:35,755,991...35,768,582
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Glb1 |
galactosidase, beta 1 |
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ISO |
ClinVar Annotator: match by term: Ependymoma |
ClinVar |
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NCBI chr 8:114,085,508...114,158,127
Ensembl chr 8:114,085,508...114,158,127
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G |
Gon4l |
gon-4 like |
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ISO |
ClinVar Annotator: match by term: Ependymoma |
ClinVar |
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NCBI chr 2:174,233,461...174,306,636
Ensembl chr 2:174,233,461...174,306,634
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G |
Gpha2 |
glycoprotein hormone subunit alpha 2 |
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ISO |
ClinVar Annotator: match by term: Ependymoma |
ClinVar |
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NCBI chr 1:203,525,952...203,527,271
Ensembl chr 1:203,526,122...203,527,270
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G |
Gpr137 |
G protein-coupled receptor 137 |
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ISO |
ClinVar Annotator: match by term: Ependymoma |
ClinVar |
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NCBI chr 1:204,129,636...204,132,622
Ensembl chr 1:204,129,636...204,133,082
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Gstm1 |
glutathione S-transferase mu 1 |
severity |
ISO |
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RGD |
PMID:10965818 |
RGD:5490163 |
NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411
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G |
Gstm3 |
glutathione S-transferase mu 3 |
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ISO |
DNA: deletion: intron 6 |
RGD |
PMID:16598069 |
RGD:5688743 |
NCBI chr 2:195,590,450...195,612,578
Ensembl chr 2:195,607,289...195,612,475
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G |
Gstm5 |
glutathione S-transferase, mu 5 |
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ISO |
DNA: deletion: intron 6 |
RGD |
PMID:16598069 |
RGD:5688743 |
NCBI chr 2:195,531,599...195,534,562
Ensembl chr 2:195,531,495...195,534,553
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G |
Gstp1 |
glutathione S-transferase pi 1 |
susceptibility |
ISO |
DNA:polymorphism:exon:p.I105V (rs1695) (human) CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:16899598 PMID:15006924 |
RGD:5490124 |
NCBI chr 1:201,337,762...201,340,230
Ensembl chr 1:201,321,672...201,340,226
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G |
H3f3a |
H3.3 histone A |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Brainstem glioma |
CTD ClinVar |
PMID:22286216 PMID:23583981 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 |
Hdac3 |
histone deacetylase 3 |
disease_progression |
ISO |
mRNA,protein:increased expression:brain: ClinVar Annotator: match by term: Ependymoma |
ClinVar RGD |
PMID:23685192 |
RGD:9590201 |
NCBI chr18:29,770,637...29,789,850
Ensembl chr18:29,770,636...29,793,856
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Hells |
helicase, lymphoid specific |
severity |
ISO |
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RGD |
PMID:28042322 |
RGD:13702468 |
NCBI chr 1:236,701,704...236,748,239
Ensembl chr 1:236,701,758...236,746,844
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G |
Hgf |
hepatocyte growth factor |
disease_progression |
ISO |
protein:increased expression:brain: |
RGD |
PMID:12115353 |
RGD:8548633 |
NCBI chr 4:18,673,736...18,745,582
Ensembl chr 4:18,677,101...18,745,409
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G |
Hmgb1 |
high mobility group box 1 |
treatment |
IMP |
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RGD |
PMID:10830965 |
RGD:10402059 |
NCBI chr12:5,972,950...5,979,658
Ensembl chr12:5,901,586...5,978,565 Ensembl chr16:5,901,586...5,978,565
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G |
Hmgn5 |
high mobility group nucleosome binding domain 5 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22109888 |
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NCBI chr X:74,085,871...74,094,488
Ensembl chr X:74,085,875...74,094,441
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G |
Hoxd11 |
homeobox D11 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:33614284 |
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NCBI chr 3:59,584,840...59,587,257
Ensembl chr 3:59,585,039...59,586,783
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G |
Hras |
HRas proto-oncogene, GTPase |
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ISO ISS |
CTD Direct Evidence: marker/mechanism |
CTD MouseDO |
PMID:30619488 |
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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 |
Hsd3b2 |
hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 |
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ISO |
ClinVar Annotator: match by term: Ependymoma |
ClinVar |
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NCBI chr 2:186,095,897...186,105,354
Ensembl chr 2:186,095,897...186,101,852
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G |
Hspa5 |
heat shock protein family A (Hsp70) member 5 |
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ISO |
protein:increased expression |
RGD |
PMID:21112319 |
RGD:5685704 |
NCBI chr 3:18,055,507...18,059,969
Ensembl chr 3:18,055,405...18,059,891
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G |
Idh1 |
isocitrate dehydrogenase (NADP(+)) 1 |
susceptibility |
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Brainstem glioma | ClinVar Annotator: match by term: Glioma susceptibility 1 |
CTD ClinVar OMIM |
PMID:18772396 PMID:19657110 PMID:19798509 PMID:19818334 PMID:19901110 PMID:20946881 PMID:21352804 PMID:21446021 PMID:22160010 PMID:22397365 PMID:22417203 PMID:22898539 PMID:23558169 PMID:24606448 PMID:25043048 PMID:25157968 PMID:25391653 PMID:25741868 PMID:25848751 PMID:26618343 PMID:26619011 PMID:27993330 PMID:28122345 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: Brainstem glioma |
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 |
Ifng |
interferon gamma |
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IDA |
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RGD |
PMID:10078962 |
RGD:727266 |
NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375
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G |
Igf1 |
insulin-like growth factor 1 |
severity |
ISO |
protein:increased expression:serum: |
RGD |
PMID:21788435 |
RGD:8548833 |
NCBI chr 7:22,282,895...22,361,972
Ensembl chr 7:22,282,930...22,359,296
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G |
Igf1r |
insulin-like growth factor 1 receptor |
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ISO |
DNA: SNP: : rs2272037 or rs2016347 |
RGD |
PMID:18562769 |
RGD:5686434 |
NCBI chr 1:121,549,831...121,838,548
Ensembl chr 1:121,550,743...121,831,777
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G |
Igfbp3 |
insulin-like growth factor binding protein 3 |
severity |
ISO |
protein:increased expression:serum: |
RGD |
PMID:21788435 |
RGD:8548833 |
NCBI chr14:82,056,347...82,064,083
Ensembl chr14:82,056,347...82,064,083
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G |
Il10 |
interleukin 10 |
susceptibility |
ISO |
DNA:SNP: :rs1800896 (human) |
RGD |
PMID:20406895 |
RGD:4140470 |
NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
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G |
Il12a |
interleukin 12A |
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ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:18176109 |
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NCBI chr 2:152,965,769...152,973,035
Ensembl chr 2:152,965,769...152,972,734
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G |
Il12b |
interleukin 12B |
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ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:18176109 |
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NCBI chr10:28,888,832...28,903,802
Ensembl chr10:28,893,008...28,902,903
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G |
Il18 |
interleukin 18 |
treatment |
ISO |
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RGD |
PMID:18725309 |
RGD:8657054 |
NCBI chr 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887
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G |
Il2 |
interleukin 2 |
treatment |
ISO |
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RGD |
PMID:12864971 |
RGD:8663439 |
NCBI chr 2:120,004,862...120,009,566
Ensembl chr 2:120,004,862...120,009,566
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G |
Il4 |
interleukin 4 |
treatment |
ISO |
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RGD |
PMID:9973213 |
RGD:8142389 |
NCBI chr10:37,771,203...37,776,750
Ensembl chr10:37,771,203...37,776,750
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G |
Il7 |
interleukin 7 |
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IDA |
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RGD |
PMID:10078962 |
RGD:727266 |
NCBI chr 2:94,235,219...94,280,075
Ensembl chr 2:94,234,766...94,280,075
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G |
Isg15 |
ISG15 ubiquitin-like modifier |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:35506701 |
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NCBI chr 5:166,784,148...166,785,435
Ensembl chr 5:166,784,148...166,785,435
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G |
Kat6b |
lysine acetyltransferase 6B |
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ISO |
ClinVar Annotator: match by term: Ependymoma |
ClinVar |
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NCBI chr15:2,638,885...2,811,977
Ensembl chr15:2,639,200...2,812,316
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G |
Kcnk4 |
potassium two pore domain channel subfamily K member 4 |
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ISO |
ClinVar Annotator: match by term: Ependymoma |
ClinVar |
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NCBI chr 1:204,117,941...204,129,494
Ensembl chr 1:204,114,572...204,125,925
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G |
Kcnk7 |
potassium two pore domain channel subfamily K member 7 |
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ISO |
ClinVar Annotator: match by term: Ependymoma |
ClinVar |
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NCBI chr 1:202,988,801...202,992,842
Ensembl chr 1:202,990,198...202,992,872
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G |
Kdm5b |
lysine demethylase 5B |
disease_progression |
ISO |
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RGD |
PMID:25450384 PMID:25450384 |
RGD:13702126, RGD:13702126 |
NCBI chr13:46,001,589...46,073,868
Ensembl chr13:46,002,542...46,073,872
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G |
Kdr |
kinase insert domain receptor |
disease_progression severity |
ISO |
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RGD |
PMID:20501615 PMID:10506722 |
RGD:5684393, RGD:5684425 |
NCBI chr14:32,217,871...32,261,018
Ensembl chr14:32,217,871...32,261,018
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G |
Klhl21 |
kelch-like family member 21 |
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ISO |
ClinVar Annotator: match by term: Ependymoma |
ClinVar |
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NCBI chr 5:162,514,888...162,523,545
Ensembl chr 5:162,514,765...162,523,545
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G |
Klln |
killin, p53-regulated DNA replication inhibitor |
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ISO |
ClinVar Annotator: match by term: Glioma susceptibility 2 |
ClinVar |
PMID:25741868 PMID:27535533 |
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G |
Kmt2d |
lysine methyltransferase 2D |
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ISO |
ClinVar Annotator: match by term: Astrocytoma |
ClinVar |
PMID:25741868 |
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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 |
Kras |
KRAS proto-oncogene, GTPase |
severity |
ISO |
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RGD |
PMID:19435821 PMID:22207524 |
RGD:13702860, RGD:13702477 |
NCBI chr 4:178,185,418...178,218,484
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G |
Kremen2 |
kringle containing transmembrane protein 2 |
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ISO |
ClinVar Annotator: match by term: Ependymoma |
ClinVar |
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NCBI chr10:12,763,345...12,767,622
Ensembl chr10:12,763,397...12,767,854
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G |
Lats1 |
large tumor suppressor kinase 1 |
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ISO |
ClinVar Annotator: match by term: Ependymoma |
ClinVar |
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NCBI chr 1:2,160,411...2,193,640
Ensembl chr 1:2,160,411...2,193,640
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G |
Letm1 |
leucine zipper and EF-hand containing transmembrane protein 1 |
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ISO |
ClinVar Annotator: match by term: Ependymoma |
ClinVar |
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NCBI chr14:76,942,647...76,982,220
Ensembl chr14:76,942,729...76,984,904
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G |
Lgals3 |
galectin 3 |
disease_progression |
IEP |
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RGD |
PMID:23179497 |
RGD:9685225 |
NCBI chr15:20,620,083...20,632,019
Ensembl chr15:20,607,692...20,632,025
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G |
Lig4 |
DNA ligase 4 |
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ISO |
DNA:SNP: :rs1805388 (human) |
RGD |
PMID:23663450 |
RGD:13204718 |
NCBI chr16:79,518,393...79,526,956
Ensembl chr16:79,518,312...79,527,040
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G |
Lta |
lymphotoxin alpha |
treatment |
ISO |
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RGD |
PMID:1883913 |
RGD:1625042 |
NCBI chr20:3,618,853...3,621,324
Ensembl chr20:3,618,853...3,620,859
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G |
Ltbp3 |
latent transforming growth factor beta binding protein 3 |
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ISO |
ClinVar Annotator: match by term: Ependymoma |
ClinVar |
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NCBI chr 1:203,029,412...203,045,975
Ensembl chr 1:203,029,877...203,045,975
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G |
Macrod1 |
mono-ADP ribosylhydrolase 1 |
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ISO |
ClinVar Annotator: match by term: Ependymoma |
ClinVar |
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NCBI chr 1:204,246,238...204,387,027
Ensembl chr 1:204,246,166...204,389,716
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G |
Majin |
membrane anchored junction protein |
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ISO |
ClinVar Annotator: match by term: Ependymoma |
ClinVar |
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NCBI chr 1:203,487,777...203,524,098
Ensembl chr 1:203,488,069...203,524,092
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G |
Map2k1 |
mitogen activated protein kinase kinase 1 |
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ISO |
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RGD |
PMID:21057530 |
RGD:13702863 |
NCBI chr 8:64,683,449...64,754,900
Ensembl chr 8:64,683,449...64,755,147
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G |
Map3k11 |
mitogen-activated protein kinase kinase kinase 11 |
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ISO |
ClinVar Annotator: match by term: Ependymoma |
ClinVar |
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NCBI chr 1:202,975,353...202,988,655
Ensembl chr 1:202,975,353...202,988,652
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G |
Map4k2 |
mitogen activated protein kinase kinase kinase kinase 2 |
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ISO |
ClinVar Annotator: match by term: Ependymoma |
ClinVar |
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NCBI chr 1:203,645,098...203,660,782
Ensembl chr 1:203,645,153...203,660,331
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G |
Map4k3 |
mitogen-activated protein kinase kinase kinase kinase 3 |
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ISO |
ClinVar Annotator: match by term: Ependymoma |
ClinVar |
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NCBI chr 6:14,276,623...14,446,321
Ensembl chr 6:14,277,121...14,446,334
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G |
Mapk3 |
mitogen activated protein kinase 3 |
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ISO |
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RGD |
PMID:27256374 |
RGD:13702865 |
NCBI chr 1:181,366,646...181,372,863
Ensembl chr 1:181,366,637...181,372,863
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G |
Mark2 |
microtubule affinity regulating kinase 2 |
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ISO |
ClinVar Annotator: match by term: Ependymoma |
ClinVar |
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NCBI chr 1:204,461,029...204,526,247
Ensembl chr 1:204,461,030...204,525,652
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G |
Mdk |
midkine |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21233844 |
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NCBI chr 3:77,901,134...77,903,997
Ensembl chr 3:77,901,158...77,903,130
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G |
Men1 |
menin 1 |
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ISO |
ClinVar Annotator: match by term: Ependymoma |
ClinVar |
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NCBI chr 1:203,638,905...203,644,871
Ensembl chr 1:203,639,000...203,644,871
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G |
Met |
MET proto-oncogene, receptor tyrosine kinase |
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IEP |
protein:increased expression:brain, glioma (rat) |
RGD |
PMID:18194445 |
RGD:2317467 |
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 |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16033832 PMID:16899598 PMID:19901110 |
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NCBI chr 1:191,710,980...191,937,760
Ensembl chr 1:191,710,930...191,937,756
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G |
Mir192 |
microRNA 192 |
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ISO |
ClinVar Annotator: match by term: Ependymoma |
ClinVar |
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NCBI chr 1:203,564,946...203,565,055
Ensembl chr 1:203,564,946...203,565,055
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G |
Mir194-2 |
microRNA 194-2 |
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ISO |
ClinVar Annotator: match by term: Ependymoma |
ClinVar |
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NCBI chr 1:203,564,761...203,564,845
Ensembl chr 1:203,564,761...203,564,845
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G |
Mki67 |
marker of proliferation Ki-67 |
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IDA |
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RGD |
PMID:22262719 |
RGD:6483547 |
NCBI chr 1:190,496,319...190,522,983
Ensembl chr 1:190,496,319...190,522,762
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G |
Mmp2 |
matrix metallopeptidase 2 |
treatment |
IEP |
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RGD |
PMID:19292920 |
RGD:8657080 |
NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870
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G |
Mrpl49 |
mitochondrial ribosomal protein L49 |
|
ISO |
ClinVar Annotator: match by term: Ependymoma |
ClinVar |
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NCBI chr 1:203,346,068...203,350,040
Ensembl chr 1:203,332,481...203,350,049
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G |
Msh2 |
mutS homolog 2 |
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ISO |
ClinVar Annotator: match by term: Glioma susceptibility 9 |
ClinVar |
PMID:11726306 PMID:15849733 PMID:17101317 PMID:25741868 PMID:28492532 PMID:28785832 PMID:33357406 PMID:34359559 More...
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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 |
Mt-nd4 |
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 |
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ISO |
ClinVar Annotator: match by term: Ependymoma |
ClinVar |
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NCBI chr MT:10,160...11,537 NCBI chr MT:10,160...11,537 NCBI chr MT:10,160...11,537 NCBI chr MT:10,160...11,537 NCBI chr MT:10,160...11,537 NCBI chr MT:10,160...11,537 NCBI chr MT:10,160...11,537 NCBI chr MT:10,160...11,537 NCBI chr MT:10,160...11,537 NCBI chr MT:10,160...11,537
Ensembl chr MT:10,160...11,537
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G |
Mtor |
mechanistic target of rapamycin kinase |
severity |
ISO |
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RGD |
PMID:20878445 |
RGD:13702868 |
NCBI chr 5:158,884,856...158,994,311
Ensembl chr 5:158,884,804...158,994,311
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G |
Myb |
MYB proto-oncogene, transcription factor |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23583981 PMID:26829751 |
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NCBI chr 1:15,939,771...15,973,367
Ensembl chr 1:15,939,761...15,973,057
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G |
Mybl1 |
MYB proto-oncogene like 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23583981 |
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NCBI chr 5:9,582,905...9,618,179
Ensembl chr 5:9,582,934...9,618,183
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G |
Mylk |
myosin light chain kinase |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:10232591 |
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NCBI chr11:65,783,008...66,030,239
Ensembl chr11:65,783,008...66,030,261
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G |
Naa40 |
N(alpha)-acetyltransferase 40, NatD catalytic subunit |
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ISO |
ClinVar Annotator: match by term: Ependymoma |
ClinVar |
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NCBI chr 1:204,410,636...204,430,890
Ensembl chr 1:204,413,498...204,430,717
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G |
Naaladl1 |
N-acetylated alpha-linked acidic dipeptidase-like 1 |
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ISO |
ClinVar Annotator: match by term: Ependymoma |
ClinVar |
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NCBI chr 1:203,400,632...203,414,195
Ensembl chr 1:203,400,631...203,414,195
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G |
Nadsyn1 |
NAD synthetase 1 |
susceptibility |
ISO |
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RGD |
PMID:22740028 |
RGD:13703114 |
NCBI chr 1:198,981,559...199,009,853
Ensembl chr 1:198,981,604...199,009,869
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G |
Ndrg4 |
NDRG family member 4 |
disease_progression |
ISO |
protein:decreased expression:brain |
RGD |
PMID:22399192 |
RGD:7247727 |
NCBI chr19:9,351,408...9,387,398
Ensembl chr19:9,351,404...9,386,914
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G |
Net1 |
neuroepithelial cell transforming 1 |
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ISO |
ClinVar Annotator: match by term: Ependymoma |
ClinVar |
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NCBI chr17:66,341,251...66,370,445
Ensembl chr17:66,340,728...66,370,441
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G |
Nf1 |
neurofibromin 1 |
disease_progression |
ISO |
DNA:mutations: : CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:25119042 PMID:26190195 |
RGD:12789702 |
NCBI chr10:64,306,027...64,539,112
Ensembl chr10:64,306,301...64,536,658
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G |
Nf2 |
NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor |
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ISO |
ClinVar Annotator: match by term: Ependymoma |
ClinVar |
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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 |
Nos3 |
nitric oxide synthase 3 |
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ISO |
protein:increased expression:blood vessel endothelial cell |
RGD |
PMID:14672505 |
RGD:2292080 |
NCBI chr 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166
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G |
Nrxn2 |
neurexin 2 |
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ISO |
ClinVar Annotator: match by term: Ependymoma |
ClinVar |
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NCBI chr 1:203,726,420...203,842,301
Ensembl chr 1:203,735,753...203,842,297
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G |
Ntrk1 |
neurotrophic receptor tyrosine kinase 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24705251 |
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NCBI chr 2:173,236,961...173,253,806
Ensembl chr 2:173,236,963...173,253,770
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G |
Ntrk2 |
neurotrophic receptor tyrosine kinase 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24705251 |
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NCBI chr17:5,558,992...5,870,299
Ensembl chr17:5,559,043...5,869,136
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G |
Ntrk3 |
neurotrophic receptor tyrosine kinase 3 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24705251 |
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NCBI chr 1:132,116,472...132,503,849
Ensembl chr 1:132,132,849...132,503,286
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G |
Nudt22 |
nudix hydrolase 22 |
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ISO |
ClinVar Annotator: match by term: Ependymoma |
ClinVar |
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NCBI chr 1:204,182,797...204,186,421
Ensembl chr 1:204,182,802...204,186,280
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G |
Otub1 |
OTU deubiquitinase, ubiquitin aldehyde binding 1 |
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ISO |
ClinVar Annotator: match by term: Ependymoma |
ClinVar |
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NCBI chr 1:204,387,215...204,395,495
Ensembl chr 1:204,387,215...204,395,483
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G |
Otud5 |
OTU deubiquitinase 5 |
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ISO |
ClinVar Annotator: match by term: Ependymoma |
ClinVar |
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NCBI chr X:14,626,173...14,659,331
Ensembl chr X:14,626,164...14,659,573
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G |
Patz1 |
POZ (BTB) and AT hook containing zinc finger 1 |
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ISO |
ClinVar Annotator: match by term: Ependymoma |
ClinVar |
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NCBI chr14:78,154,590...78,173,032
Ensembl chr14:78,152,516...78,173,032
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G |
Pcmt1 |
protein-L-isoaspartate (D-aspartate) O-methyltransferase 1 |
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IEP |
mRNA:decreased expression:brain: |
RGD |
PMID:15857672 |
RGD:10448283 |
NCBI chr 1:2,111,756...2,160,354
Ensembl chr 1:2,111,763...2,159,201
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G |
Pcnx3 |
pecanex 3 |
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ISO |
ClinVar Annotator: match by term: Ependymoma |
ClinVar |
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NCBI chr 1:202,951,322...202,974,167
Ensembl chr 1:202,951,322...202,976,561
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G |
Pdap1 |
PDGFA associated protein 1 |
severity |
ISO |
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RGD |
PMID:27448842 |
RGD:13702895 |
NCBI chr12:9,470,652...9,480,880
Ensembl chr12:9,470,574...9,535,374
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G |
Pdgfa |
platelet derived growth factor subunit A |
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ISO |
in a mouse model |
RGD |
PMID:21490965 |
RGD:13702894 |
NCBI chr12:15,645,549...15,667,056
Ensembl chr12:15,645,541...15,666,497
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G |
Pdgfb |
platelet derived growth factor subunit B |
severity |
ISO |
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RGD |
PMID:27448842 PMID:26945107 PMID:21677873 |
RGD:13702895, RGD:13702896, RGD:13702897 |
NCBI chr 7:111,539,444...111,557,984
Ensembl chr 7:111,540,345...111,557,984
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G |
Phldb1 |
pleckstrin homology-like domain, family B, member 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19578367 |
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NCBI chr 8:45,003,543...45,051,541
Ensembl chr 8:45,003,538...45,051,522
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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: Brainstem glioma ClinVar Annotator: match by term: Brainstem glioma | ClinVar Annotator: match by term: Glioma susceptibility 9 ClinVar Annotator: match by term: Brainstem glioma | ClinVar Annotator: match by term: Ependymoma | ClinVar Annotator: match by term: Glioma susceptibility 9 |
ClinVar RGD |
PMID:15016963 PMID:15254419 PMID:15520168 PMID:15608678 PMID:15647370 PMID:15805248 PMID:15930273 PMID:16906227 PMID:16930767 PMID:17376864 PMID:17673550 PMID:18676830 PMID:18725974 PMID:19029981 PMID:19223544 PMID:19366826 PMID:19513541 PMID:19903786 PMID:20453058 PMID:20593314 PMID:20619739 PMID:21078999 PMID:21430269 PMID:21558396 PMID:21824802 PMID:22162582 PMID:22162589 PMID:22271473 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:24497998 PMID:24782230 PMID:25157968 PMID:25599672 PMID:25681199 PMID:25741868 PMID:25880439 PMID:26266975 PMID:26266985 PMID:26351730 PMID:26619011 PMID:26627007 PMID:26637981 PMID:26822237 PMID:27126994 PMID:27626068 PMID:27631024 PMID:28151489 PMID:28425981 PMID:28492532 PMID:28566443 PMID:28941273 PMID:29296277 PMID:29446767 PMID:29549527 PMID:29661094 PMID:29988677 PMID:30376034 PMID:30543347 PMID:31536475 PMID:31775759 PMID:32778138 PMID:34008892 PMID:34496175 PMID:34568242 PMID:34606700 PMID:37667289 PMID:37712948 PMID:16847462 More...
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RGD:2290476 |
NCBI chr 2:115,175,275...115,249,034
Ensembl chr 2:115,174,984...115,249,032
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G |
Pik3r3 |
phosphoinositide-3-kinase regulatory subunit 3 |
treatment |
ISO |
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RGD |
PMID:28260020 |
RGD:13782053 |
NCBI chr 5:129,700,925...129,772,591
Ensembl chr 5:129,701,229...129,772,583
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G |
Plau |
plasminogen activator, urokinase |
severity |
ISO |
protein:increased expression:brain (human) |
RGD |
PMID:7604873 |
RGD:7241260 |
NCBI chr15:3,456,230...3,462,732
Ensembl chr15:3,456,232...3,462,775
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G |
Plcb3 |
phospholipase C beta 3 |
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ISO |
ClinVar Annotator: match by term: Ependymoma |
ClinVar |
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NCBI chr 1:204,143,257...204,160,384
Ensembl chr 1:204,144,956...204,160,228
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G |
Plk1 |
polo-like kinase 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22000864 |
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NCBI chr 1:176,716,420...176,726,400
Ensembl chr 1:176,716,420...176,726,400
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G |
Pola2 |
DNA polymerase alpha 2, accessory subunit |
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ISO |
ClinVar Annotator: match by term: Ependymoma |
ClinVar |
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NCBI chr 1:203,227,183...203,251,350
Ensembl chr 1:203,203,388...203,251,348
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G |
Pot1 |
protection of telomeres 1 |
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ISO |
ClinVar Annotator: match by term: Astrocytoma | ClinVar Annotator: match by term: Brainstem glioma | ClinVar Annotator: match by term: Glioma susceptibility 1 | ClinVar Annotator: match by term: Glioma susceptibility 2 | ClinVar Annotator: match by term: Glioma susceptibility 9 ClinVar Annotator: match by term: Brainstem glioma | ClinVar Annotator: match by term: Ependymoma | ClinVar Annotator: match by term: Glioma susceptibility 2 | ClinVar Annotator: match by term: Glioma susceptibility 9 |
ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:19461895 PMID:19763152 PMID:20307669 PMID:22406018 PMID:23502782 PMID:24686846 PMID:24686849 PMID:25244922 PMID:25482530 PMID:25640679 PMID:25741868 PMID:25877891 PMID:25934589 PMID:26365187 PMID:26403419 PMID:26467025 PMID:27013236 PMID:27239034 PMID:27329137 PMID:27365461 PMID:27528712 PMID:27869160 PMID:28389767 PMID:28393830 PMID:28393832 PMID:28492532 PMID:28592523 PMID:28853721 PMID:29036293 PMID:29522175 PMID:29523635 PMID:29625052 PMID:29641532 PMID:29693246 PMID:30414346 PMID:30451293 PMID:30523342 PMID:30556179 PMID:30586141 PMID:30975761 PMID:31937561 PMID:32033110 PMID:32155570 PMID:32191290 PMID:32325837 PMID:32449991 PMID:32720348 PMID:32907878 PMID:32987645 PMID:33050356 PMID:33054084 PMID:33119245 PMID:33122293 PMID:33216348 PMID:33525650 PMID:33782098 PMID:33941849 PMID:34193977 PMID:35727838 PMID:36113475 PMID:36539277 PMID:36876055 PMID:37140166 PMID:38688277 More...
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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 |
Pou3f4 |
POU class 3 homeobox 4 |
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ISO |
ClinVar Annotator: match by term: Ependymoma |
ClinVar |
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NCBI chr X:75,858,646...75,859,923
Ensembl chr X:75,858,646...75,859,923
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G |
Pou5f1 |
POU class 5 homeobox 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:35506701 |
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NCBI chr20:3,223,128...3,227,891
Ensembl chr20:3,223,129...3,227,891
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G |
Pparg |
peroxisome proliferator-activated receptor gamma |
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ISO |
ClinVar Annotator: match by term: Glioma susceptibility 1 |
ClinVar |
PMID:9467001 PMID:10381354 PMID:10523018 PMID:10690291 PMID:10851250 PMID:14569127 PMID:14616762 PMID:14671186 PMID:25741868 PMID:28492532 More...
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NCBI chr 4:148,423,102...148,548,471
Ensembl chr 4:148,423,194...148,548,468
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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 |
Ppp1r14b |
protein phosphatase 1, regulatory (inhibitor) subunit 14B |
|
ISO |
ClinVar Annotator: match by term: Ependymoma |
ClinVar |
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NCBI chr 1:204,165,210...204,167,320
Ensembl chr 1:204,163,299...204,167,319
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G |
Ppp2r5b |
protein phosphatase 2, regulatory subunit B', beta |
|
ISO |
ClinVar Annotator: match by term: Ependymoma |
ClinVar |
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NCBI chr 1:203,527,268...203,535,442
Ensembl chr 1:203,527,270...203,535,416
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G |
Prdx5 |
peroxiredoxin 5 |
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ISO |
ClinVar Annotator: match by term: Ependymoma |
ClinVar |
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NCBI chr 1:204,099,826...204,103,589
Ensembl chr 1:204,099,826...204,114,268
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G |
Prkca |
protein kinase C, alpha |
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ISO |
DNA:gene fusion: : |
RGD |
PMID:26671581 |
RGD:11087038 |
NCBI chr10:92,889,390...93,288,013
Ensembl chr10:92,894,012...93,288,012
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G |
Psd3 |
pleckstrin and Sec7 domain containing 3 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16865689 |
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NCBI chr16:21,465,643...22,035,846
Ensembl chr16:21,465,639...22,034,547
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G |
Pten |
phosphatase and tensin homolog |
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ISO |
ClinVar Annotator: match by term: Brainstem glioma | ClinVar Annotator: match by term: Glioma susceptibility 2 ClinVar Annotator: match by term: Glioma susceptibility 2 | ClinVar Annotator: match by term: Glioma susceptibility 3 | ClinVar Annotator: match by term: Glioma susceptibility 9 ClinVar Annotator: match by term: Brainstem glioma | ClinVar Annotator: match by term: Glioma susceptibility 1 | ClinVar Annotator: match by term: Glioma susceptibility 2 | ClinVar Annotator: match by term: Glioma susceptibility 9 ClinVar Annotator: match by term: Ependymoma | ClinVar Annotator: match by term: Glioma susceptibility 2 DNA:deletions, missense mutations, nonsense mutation:exons:multiple (human) CTD Direct Evidence: marker/mechanism |
ClinVar OMIM CTD RGD |
PMID:792966 PMID:1336932 PMID:7728760 PMID:8980400 PMID:9140396 PMID:9241266 PMID:9256433 PMID:9259288 PMID:9326929 PMID:9399897 PMID:9467011 PMID:9536098 PMID:9598803 PMID:9600246 PMID:9735393 PMID:9740666 PMID:9811831 PMID:9856571 PMID:10232405 PMID:10353779 PMID:10400993 PMID:10468583 PMID:10555148 PMID:10749983 PMID:10777358 PMID:10848731 PMID:10866302 PMID:10920277 PMID:10923032 PMID:11051241 PMID:11156408 PMID:11234884 PMID:11274365 PMID:11332402 PMID:11494117 PMID:11504908 PMID:11685670 PMID:11918710 PMID:12085208 PMID:12372056 PMID:12471211 PMID:12614768 PMID:12844284 PMID:14518070 PMID:14675182 PMID:15016963 PMID:15120218 PMID:15211648 PMID:15254419 PMID:15492994 PMID:15647370 PMID:15769473 PMID:15805158 PMID:16199547 PMID:16752378 PMID:16773562 PMID:16952599 PMID:17286265 PMID:17324556 PMID:17392703 PMID:17526800 PMID:17526801 PMID:17576681 PMID:17847000 PMID:17873882 PMID:17941496 PMID:17942903 PMID:18558293 PMID:18725974 PMID:18759867 PMID:18767981 PMID:18986487 PMID:19265751 PMID:19340001 PMID:19351834 PMID:19366826 PMID:19457929 PMID:19458356 PMID:19829307 PMID:19903786 PMID:20018398 PMID:20085938 PMID:20223021 PMID:20301661 PMID:20453058 PMID:20533527 PMID:20538496 PMID:20600018 PMID:20619739 PMID:20685300 PMID:20712882 PMID:20881644 PMID:20926450 PMID:21194675 PMID:21343951 PMID:21417916 PMID:21659347 PMID:21828076 PMID:21869887 PMID:21956414 PMID:22162582 PMID:22162589 PMID:22266152 PMID:22281088 PMID:22381246 PMID:22479427 PMID:22491738 PMID:22520842 PMID:22595938 PMID:22628360 PMID:22703879 PMID:23161105 PMID:23315997 PMID:23335809 PMID:23349303 PMID:23399955 PMID:23442912 PMID:23470840 PMID:23475934 PMID:23555315 PMID:23695273 PMID:23764071 PMID:23886400 PMID:23934601 PMID:24033266 PMID:24052722 PMID:24055113 PMID:24099866 PMID:24136893 PMID:24345843 PMID:24375884 PMID:24404930 PMID:24468202 PMID:24498881 PMID:24656772 PMID:24728327 PMID:24763289 PMID:24766807 PMID:24778394 PMID:24809327 PMID:25132236 PMID:25157968 PMID:25186627 PMID:25288137 PMID:25326635 PMID:25429968 PMID:25527629 PMID:25549896 PMID:25647146 PMID:25669429 PMID:25722288 PMID:25741868 PMID:25756585 PMID:25910213 PMID:25937288 PMID:25980754 PMID:26076150 PMID:26099045 PMID:26124082 PMID:26246517 PMID:26350204 PMID:26376867 PMID:26418532 PMID:26467025 PMID:26504226 PMID:26579216 PMID:26580448 PMID:26633542 PMID:26773036 PMID:26800850 PMID:26898890 PMID:26919320 PMID:27221918 PMID:27405757 PMID:27426521 PMID:27428751 PMID:27477328 PMID:27489861 PMID:27514801 PMID:27531073 PMID:27535533 PMID:27829222 PMID:27959697 PMID:28008555 PMID:28135145 PMID:28152038 PMID:28195393 PMID:28250423 PMID:28286253 PMID:28289760 PMID:28340209 PMID:28418444 PMID:28475857 PMID:28492532 PMID:28526761 PMID:28655553 PMID:28677221 PMID:28755079 PMID:29273943 PMID:29371908 PMID:29373119 PMID:29594054 PMID:29608813 PMID:29663862 PMID:29706350 PMID:29706633 PMID:29706646 PMID:29785012 PMID:29806868 PMID:29874181 PMID:29931205 PMID:29970488 PMID:30181857 PMID:30287823 PMID:30311369 PMID:30311380 PMID:30374176 PMID:30528446 PMID:30614812 PMID:30659124 PMID:30993208 PMID:31006514 PMID:31079897 PMID:31144778 PMID:31159747 PMID:31209962 PMID:31336731 PMID:31567591 PMID:31594918 PMID:32150788 PMID:32234455 PMID:32238909 PMID:32350270 PMID:32366478 PMID:32442409 PMID:32664367 PMID:32832836 PMID:32885271 PMID:33077954 PMID:33083010 PMID:33088792 PMID:33372952 PMID:33471991 PMID:33600059 PMID:33723755 PMID:33887726 PMID:34268892 PMID:34386506 PMID:35089076 PMID:35172517 PMID:35227301 PMID:35264596 PMID:35931053 PMID:36988593 PMID:38311546 PMID:9090379 More...
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RGD:12801495 |
NCBI chr 1:230,630,443...230,697,070
Ensembl chr 1:230,630,338...230,696,838
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G |
Ptgs2 |
prostaglandin-endoperoxide synthase 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15561105 |
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NCBI chr13:62,163,936...62,172,193
Ensembl chr13:62,163,932...62,172,188
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G |
Ptpn11 |
protein tyrosine phosphatase, non-receptor type 11 |
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ISO |
ClinVar Annotator: match by term: Astrocytoma |
ClinVar |
PMID:11704759 PMID:12634870 PMID:12717436 PMID:14644997 PMID:14974085 PMID:14982869 PMID:15385933 PMID:15710330 PMID:15834506 PMID:15842656 PMID:15928039 PMID:16358218 PMID:16518851 PMID:16830086 PMID:17177198 PMID:17942397 PMID:17972951 PMID:18470943 PMID:18559669 PMID:18678287 PMID:19047918 PMID:19179468 PMID:19509418 PMID:19798502 PMID:21901340 PMID:21930766 PMID:22190897 PMID:23756559 PMID:23825065 PMID:23832011 PMID:24033266 PMID:25097206 PMID:25395418 PMID:25741868 PMID:26619011 PMID:26783207 PMID:27069254 PMID:27276561 PMID:27783593 PMID:28098151 PMID:28492532 PMID:32561839 PMID:36349709 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 |
Pygm |
glycogen phosphorylase, muscle associated |
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ISO |
ClinVar Annotator: match by term: Ependymoma |
ClinVar |
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NCBI chr 1:203,690,550...203,705,369
Ensembl chr 1:203,690,533...203,705,368
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G |
Qki |
QKI, KH domain containing RNA binding |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26829751 |
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NCBI chr 1:50,387,716...50,501,568
Ensembl chr 1:50,387,698...50,498,831
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G |
Raf1 |
Raf-1 proto-oncogene, serine/threonine kinase |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Glioma |
CTD ClinVar |
PMID:23583981 |
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NCBI chr 4:148,679,534...148,740,265
Ensembl chr 4:148,679,530...148,740,317
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G |
Rasgrp2 |
RAS guanyl releasing protein 2 |
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ISO |
ClinVar Annotator: match by term: Ependymoma |
ClinVar |
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NCBI chr 1:203,705,777...203,722,993
Ensembl chr 1:203,707,481...203,722,993
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Rassf1 |
Ras association domain family member 1 |
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ISO |
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RGD |
PMID:17325427 |
RGD:2291979 |
NCBI chr 8:108,225,023...108,236,164
Ensembl chr 8:108,225,023...108,236,164
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G |
Rcor2 |
REST corepressor 2 |
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ISO |
ClinVar Annotator: match by term: Ependymoma |
ClinVar |
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NCBI chr 1:204,453,403...204,461,403
Ensembl chr 1:204,454,360...204,460,838
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G |
Rela |
RELA proto-oncogene, NF-kB subunit |
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ISO |
ClinVar Annotator: match by term: Ependymoma |
ClinVar |
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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 |
Ret |
ret proto-oncogene |
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ISO |
ClinVar Annotator: match by term: Ependymoma |
ClinVar |
PMID:25741868 |
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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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Rnf43 |
ring finger protein 43 |
exacerbates |
ISO |
protein:decreased expression:brain, brainstem (human) |
RGD |
PMID:25755738 |
RGD:151361124 |
NCBI chr10:72,461,508...72,537,301
Ensembl chr10:72,464,348...72,536,977
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G |
Ros1 |
ROS proto-oncogene 1 , receptor tyrosine kinase |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19276365 |
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NCBI chr20:31,432,636...31,583,998
Ensembl chr20:31,432,637...31,583,865
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G |
Rps6ka4 |
ribosomal protein S6 kinase A4 |
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ISO |
ClinVar Annotator: match by term: Ependymoma |
ClinVar |
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NCBI chr 1:204,021,805...204,032,781
Ensembl chr 1:204,021,806...204,032,761
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G |
RT1-CE16 |
RT1 class I, locus CE16 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:14511464 |
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NCBI chr20:3,257,109...3,260,747
Ensembl chr20:3,257,123...3,279,563
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G |
Rtel1 |
regulator of telomere elongation helicase 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19578366 PMID:19578367 |
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NCBI chr 3:168,427,247...168,465,349
Ensembl chr 3:168,419,579...168,465,348
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G |
Sac3d1 |
SAC3 domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Ependymoma |
ClinVar |
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NCBI chr 1:203,414,184...203,416,563
Ensembl chr 1:203,414,187...203,416,604
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G |
Scyl1 |
SCY1 like pseudokinase 1 |
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ISO |
ClinVar Annotator: match by term: Ependymoma |
ClinVar |
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NCBI chr 1:203,045,776...203,059,550
Ensembl chr 1:203,045,741...203,059,533
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G |
Serpine1 |
serpin family E member 1 |
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ISO |
protein:increased expression:plasma |
RGD |
PMID:14977830 |
RGD:13208546 |
NCBI chr12:19,601,272...19,611,657
Ensembl chr12:19,601,272...19,611,657
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G |
Setd9-ps1 |
SET domain containing, pseudogene 1 |
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ISO |
ClinVar Annotator: match by term: Ependymoma |
ClinVar |
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NCBI chr 2:43,319,359...43,322,764
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G |
Setdb1 |
SET domain bifurcated histone lysine methyltransferase 1 |
severity |
ISO |
protein:increased expression:brain, cell nucleus (human) |
RGD |
PMID:23943221 |
RGD:9590166 |
NCBI chr 2:182,898,738...182,930,283
Ensembl chr 2:182,898,738...182,930,506
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G |
Sf1 |
splicing factor 1 |
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ISO |
ClinVar Annotator: match by term: Ependymoma |
ClinVar |
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NCBI chr 1:203,670,016...203,683,432
Ensembl chr 1:203,670,018...203,684,330
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G |
Sh3gl1 |
SH3 domain containing GRB2 like 1, endophilin A2 |
disease_progression severity |
ISO IDA |
protein:increased expression:cytoplasm,white matter: |
RGD |
PMID:23050879 PMID:23050879 PMID:23050879 |
RGD:13463483, RGD:13463483, RGD:13463483 |
NCBI chr 9:842,285...869,753
Ensembl chr 9:842,288...869,716
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G |
Sh3tc2 |
SH3 domain and tetratricopeptide repeats 2 |
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ISO |
ClinVar Annotator: match by term: Ependymoma |
ClinVar |
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NCBI chr18:55,416,383...55,477,419
Ensembl chr18:55,416,413...55,483,083
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G |
Sipa1 |
signal-induced proliferation-associated 1 |
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ISO |
ClinVar Annotator: match by term: Ependymoma |
ClinVar |
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NCBI chr 1:202,938,532...202,950,672
Ensembl chr 1:202,938,580...202,950,591
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G |
Sirt2 |
sirtuin 2 |
treatment |
IMP |
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RGD |
PMID:23522375 |
RGD:9586035 |
NCBI chr 1:84,053,883...84,076,975
Ensembl chr 1:84,052,903...84,076,975
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G |
Slc22a12 |
solute carrier family 22 member 12 |
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ISO |
ClinVar Annotator: match by term: Ependymoma |
ClinVar |
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NCBI chr 1:203,845,039...203,852,496
Ensembl chr 1:203,845,048...203,853,555
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G |
Slc25a45 |
solute carrier family 25, member 45 |
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ISO |
ClinVar Annotator: match by term: Ependymoma |
ClinVar |
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NCBI chr 1:203,166,362...203,174,473
Ensembl chr 1:203,166,683...203,174,473
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G |
Slc39a11 |
solute carrier family 39, member 11 |
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ISO |
ClinVar Annotator: match by term: Ependymoma |
ClinVar |
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NCBI chr10:98,275,958...98,697,042
Ensembl chr10:98,275,960...98,611,295
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G |
Slc44a1 |
solute carrier family 44 member 1 |
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ISO |
DNA:gene fusion: : |
RGD |
PMID:26671581 |
RGD:11087038 |
NCBI chr 5:68,061,941...68,241,912
Ensembl chr 5:68,063,618...68,241,909
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G |
Slc5a5 |
solute carrier family 5 member 5 |
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ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:12489024 |
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NCBI chr16:18,546,709...18,556,698
Ensembl chr16:18,546,709...18,556,697
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G |
Slc6a3 |
solute carrier family 6 member 3 |
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IEP |
protein:decreased expression |
RGD |
PMID:14698456 |
RGD:1625668 |
NCBI chr 1:29,709,443...29,750,413
Ensembl chr 1:29,709,443...29,750,413
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G |
Slc7a5 |
solute carrier family 7 member 5 |
ameliorates |
IMP |
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RGD |
PMID:16496379 |
RGD:151361115 |
NCBI chr19:49,935,220...49,963,823
Ensembl chr19:49,935,220...49,963,823
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G |
Snx15 |
sorting nexin 15 |
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ISO |
ClinVar Annotator: match by term: Ependymoma |
ClinVar |
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NCBI chr 1:203,417,029...203,426,173
Ensembl chr 1:203,417,029...203,426,247
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G |
Sod1 |
superoxide dismutase 1 |
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ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:11861405 |
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NCBI chr11:29,456,673...29,462,249
Ensembl chr11:29,456,558...29,462,249
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G |
Sox6 |
SRY-box transcription factor 6 |
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ISO |
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RGD |
PMID:15696967 |
RGD:1580007 |
NCBI chr 1:169,723,306...170,334,846
Ensembl chr 1:169,729,194...170,277,386
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G |
Sphk1 |
sphingosine kinase 1 |
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IEP |
protein:increased expression:endothelial cell (rat) |
RGD |
PMID:17316399 |
RGD:2311379 |
NCBI chr10:101,758,567...101,764,240
Ensembl chr10:101,758,711...101,764,240
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G |
Spindoc |
spindlin interactor and repressor of chromatin binding |
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ISO |
ClinVar Annotator: match by term: Ependymoma |
ClinVar |
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NCBI chr 1:204,541,647...204,565,109
Ensembl chr 1:204,542,335...204,564,144
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G |
Spp1 |
secreted phosphoprotein 1 |
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IDA ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:16651633 PMID:16651633 |
RGD:1581321 |
NCBI chr14:5,308,885...5,315,120
Ensembl chr14:5,308,885...5,315,162
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G |
Spry3 |
sprouty RTK signaling antagonist 3 |
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ISO |
ClinVar Annotator: match by term: Ependymoma |
ClinVar |
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NCBI chr12:16,663,188...16,673,124
Ensembl chr12:16,663,389...16,672,531
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G |
St6gal1 |
ST6 beta-galactoside alpha-2,6-sialyltransferase 1 |
treatment |
IDA |
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RGD |
PMID:11559557 |
RGD:10043143 |
NCBI chr11:77,526,837...77,653,474
Ensembl chr11:77,526,837...77,653,310
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G |
Stip1 |
stress-induced phosphoprotein 1 |
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ISO |
ClinVar Annotator: match by term: Ependymoma |
ClinVar |
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NCBI chr 1:204,209,433...204,228,452
Ensembl chr 1:204,178,932...204,228,476
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G |
Stmn1 |
stathmin 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17440165 |
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NCBI chr 5:146,680,757...146,687,154
Ensembl chr 5:146,681,436...146,687,154
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G |
Suv39h1 |
SUV39H1 histone lysine methyltransferase |
|
ISO |
ClinVar Annotator: match by term: Ependymoma |
ClinVar |
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NCBI chr X:14,421,028...14,433,993
Ensembl chr X:14,421,109...14,433,982
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G |
Suv39h1-ps1 |
SUV39H1 histone lysine methyltransferase, pseudogene 1 |
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ISO |
ClinVar Annotator: match by term: Ependymoma |
ClinVar |
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NCBI chr X:141,792,589...141,795,257
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G |
Suz12 |
SUZ12 polycomb repressive complex 2 subunit |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25119042 |
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NCBI chr10:64,967,035...65,012,916
Ensembl chr10:64,966,967...65,012,738
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G |
Syne1 |
spectrin repeat containing nuclear envelope protein 1 |
|
ISO |
ClinVar Annotator: match by term: Ependymoma |
ClinVar |
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NCBI chr 1:41,512,146...41,983,382
Ensembl chr 1:41,512,030...41,983,322
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G |
Syvn1 |
synoviolin 1 |
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ISO |
ClinVar Annotator: match by term: Ependymoma |
ClinVar |
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NCBI chr 1:203,339,235...203,346,137
Ensembl chr 1:203,339,619...203,346,152
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G |
Tasor |
transcription activation suppressor |
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ISO |
ClinVar Annotator: match by term: Ependymoma |
ClinVar |
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NCBI chr16:2,606,807...2,669,902
Ensembl chr16:2,603,936...2,667,292
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G |
Tert |
telomerase reverse transcriptase |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18021753 PMID:19578367 |
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NCBI chr 1:29,637,213...29,659,561
Ensembl chr 1:29,637,506...29,659,561
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G |
Tfrc |
transferrin receptor |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16904380 |
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NCBI chr11:68,163,413...68,185,257
Ensembl chr11:68,163,413...68,185,257
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G |
Tigd3 |
tigger transposable element derived 3 |
|
ISO |
ClinVar Annotator: match by term: Ependymoma |
ClinVar |
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NCBI chr 1:203,178,456...203,182,775
Ensembl chr 1:203,178,460...203,181,272
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G |
Tm7sf2 |
transmembrane 7 superfamily member 2 |
|
ISO |
ClinVar Annotator: match by term: Ependymoma |
ClinVar |
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NCBI chr 1:203,355,930...203,360,287
Ensembl chr 1:203,355,931...203,360,270
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G |
Tnc |
tenascin C |
|
IEP |
protein:increased expression:brain |
RGD |
PMID:16928692 |
RGD:4889612 |
NCBI chr 5:77,375,851...77,460,712
Ensembl chr 5:77,375,851...77,460,624
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G |
Tnf |
tumor necrosis factor |
treatment |
ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:22199285 PMID:11810046 |
RGD:10450725 |
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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G |
Tnfsf10 |
TNF superfamily member 10 |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:16820965 PMID:19229339 |
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NCBI chr 2:110,199,835...110,227,239
Ensembl chr 2:110,207,916...110,225,135
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G |
Top2a |
DNA topoisomerase II alpha |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18402387 |
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NCBI chr10:83,945,731...83,976,874
Ensembl chr10:83,945,735...83,976,874
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G |
Tp53 |
tumor protein p53 |
|
ISO |
ClinVar Annotator: match by term: Astrocytoma | ClinVar Annotator: match by term: Brainstem glioma | ClinVar Annotator: match by term: Ependymoma | ClinVar Annotator: match by term: Glioma susceptibility 1 ClinVar Annotator: match by term: Astrocytoma | ClinVar Annotator: match by term: Brainstem glioma | ClinVar Annotator: match by term: Glioma susceptibility 1 ClinVar Annotator: match by term: Astrocytoma | ClinVar Annotator: match by term: Brainstem glioma | ClinVar Annotator: match by term: Glioma susceptibility 1 | ClinVar Annotator: match by term: Glioma susceptibility 9 ClinVar Annotator: match by term: Astrocytoma | ClinVar Annotator: match by term: Brainstem glioma | ClinVar Annotator: match by term: Ependymoma | ClinVar Annotator: match by term: Glioma susceptibility 1 | ClinVar Annotator: match by term: Glioma susceptibility 3 ClinVar Annotator: match by term: Astrocytoma | ClinVar Annotator: match by term: Brainstem glioma | ClinVar Annotator: match by term: Glioma susceptibility 1 | ClinVar Annotator: match by term: Malignant glioma CTD Direct Evidence: marker/mechanism |
ClinVar OMIM CTD RGD |
PMID:124622 PMID:1200021 PMID:1359493 PMID:1467311 PMID:1565143 PMID:1565144 PMID:1581912 PMID:1591732 PMID:1631137 PMID:1683921 PMID:1915267 PMID:1975675 PMID:1978757 PMID:1999338 PMID:2046748 PMID:2259385 PMID:2750177 PMID:2826609 PMID:4122735 PMID:7565304 PMID:7651740 PMID:7732013 PMID:7783166 PMID:7887414 PMID:8023157 PMID:8062826 PMID:8099841 PMID:8118819 PMID:8164043 PMID:8242631 PMID:8242752 PMID:8308926 PMID:8401536 PMID:8423216 PMID:8425176 PMID:8479749 PMID:8527048 PMID:8550239 PMID:8631304 PMID:8633021 PMID:8649776 PMID:8718514 PMID:8756654 PMID:8825920 PMID:9047394 PMID:9150393 PMID:9218725 PMID:9242456 PMID:9290701 PMID:9364015 PMID:9399838 PMID:9407971 PMID:9446663 PMID:9472631 PMID:9525742 PMID:9536098 PMID:9546439 PMID:9569050 PMID:9572492 PMID:9598730 PMID:9607760 PMID:9627118 PMID:9632751 PMID:9635828 PMID:9662334 PMID:9667734 PMID:9681828 PMID:9704930 PMID:9825943 PMID:9891044 PMID:10089074 PMID:10229196 PMID:10411893 PMID:10432928 PMID:10519380 PMID:10557074 PMID:10567903 PMID:10589545 PMID:10629033 PMID:10761705 PMID:10797439 PMID:10802655 PMID:10864200 PMID:10871862 PMID:10922393 PMID:11051239 PMID:11101847 PMID:11139324 PMID:11180592 PMID:11358831 PMID:11370630 PMID:11403041 PMID:11420676 PMID:11429700 PMID:11429705 PMID:11479205 PMID:11593407 PMID:11715068 PMID:11782540 PMID:11793474 PMID:11896595 PMID:11920788 PMID:11920959 PMID:12007217 PMID:12019170 PMID:12567188 PMID:12619118 PMID:12672316 PMID:12826609 PMID:12885464 PMID:12917626 PMID:14559903 PMID:14743206 PMID:15004724 PMID:15017592 PMID:15037740 PMID:15077194 PMID:15173255 PMID:15221755 PMID:15355915 PMID:15381368 PMID:15390294 PMID:15541116 PMID:15580553 PMID:15607980 PMID:15607981 PMID:15722483 PMID:15781620 PMID:15825182 PMID:15925506 PMID:15951970 PMID:15977174 PMID:16000567 PMID:16199549 PMID:16258005 PMID:16312222 PMID:16401470 PMID:16474844 PMID:16489069 PMID:16494995 PMID:16508005 PMID:16551709 PMID:16682957 PMID:16818505 PMID:16861262 PMID:16899598 PMID:16964264 PMID:16969106 PMID:17015838 PMID:17308077 PMID:17311302 PMID:17390010 PMID:17401428 PMID:17417627 PMID:17427234 PMID:17535973 PMID:17540308 PMID:17567834 PMID:17576681 PMID:17599946 PMID:17606709 PMID:17636407 PMID:17638920 PMID:17881637 PMID:18307025 PMID:18391940 PMID:18511570 PMID:18555592 PMID:18628487 PMID:18685109 PMID:19101993 PMID:19127115 PMID:19336573 PMID:19367569 PMID:19378321 PMID:19454241 PMID:19468865 PMID:19521721 PMID:19556618 PMID:19711436 PMID:19714490 PMID:19881536 PMID:20013323 PMID:20028212 PMID:20113312 PMID:20127978 PMID:20128691 PMID:20182602 PMID:20308654 PMID:20407015 PMID:20436704 PMID:20471942 PMID:20505364 PMID:20506564 PMID:20516128 PMID:20520810 PMID:20522432 PMID:20586629 PMID:20589832 PMID:20593220 PMID:20689556 PMID:20693561 PMID:20805372 PMID:21056685 PMID:21059199 PMID:21113594 PMID:21118481 PMID:21187651 PMID:21232794 PMID:21305319 PMID:21343334 PMID:21348412 PMID:21356188 PMID:21445056 PMID:21483000 PMID:21484931 PMID:21514416 PMID:21519010 PMID:21535297 PMID:21552135 PMID:21601526 PMID:21619694 PMID:21665182 PMID:21672450 PMID:21674059 PMID:21747090 PMID:21761402 PMID:21946351 PMID:22006311 PMID:22052707 PMID:22109999 PMID:22110706 PMID:22114072 PMID:22170717 PMID:22186996 PMID:22233476 PMID:22265402 PMID:22354696 PMID:22484423 PMID:22672556 PMID:22698404 PMID:22703879 PMID:22713868 PMID:22729912 PMID:22744426 PMID:22811390 PMID:22822097 PMID:22869713 PMID:22887876 PMID:22899716 PMID:22915647 PMID:22919068 PMID:22923379 PMID:22955915 PMID:23028800 PMID:23031740 PMID:23161690 PMID:23172776 PMID:23246812 PMID:23259501 PMID:23263379 PMID:23406775 PMID:23484829 PMID:23538418 PMID:23624782 PMID:23630318 PMID:23667202 PMID:23792586 PMID:23887774 PMID:23950206 PMID:23967324 PMID:24033266 PMID:24038938 PMID:24065105 PMID:24122735 PMID:24224046 PMID:24381225 PMID:24382691 PMID:24487413 PMID:24501221 PMID:24573247 PMID:24603336 PMID:24641375 PMID:24651012 PMID:24651015 PMID:24665023 PMID:24677579 PMID:24702488 PMID:24705251 PMID:24728327 PMID:24729566 PMID:24744791 PMID:24810334 PMID:24835218 PMID:25059482 PMID:25119042 PMID:25119136 PMID:25123297 PMID:25157968 PMID:25256166 PMID:25326637 PMID:25339994 PMID:25404506 PMID:25460562 PMID:25503501 PMID:25516983 PMID:25525159 PMID:25533637 PMID:25584008 PMID:25612911 PMID:25637381 PMID:25741868 PMID:25757876 PMID:25765855 PMID:25787918 PMID:25896519 PMID:25925845 PMID:25927356 PMID:25945745 PMID:25952993 PMID:26014290 PMID:26024390 PMID:26200271 PMID:26205489 PMID:26225655 PMID:26230955 PMID:26332594 PMID:26425688 PMID:26467025 PMID:26580448 PMID:26585234 PMID:26619011 PMID:26681312 PMID:26718964 PMID:26743472 PMID:26786923 PMID:26787237 PMID:26822237 PMID:26845104 PMID:26911350 PMID:27022024 PMID:27146902 PMID:27149858 PMID:27153395 PMID:27189670 PMID:27276561 PMID:27328919 PMID:27374712 PMID:27458004 PMID:27463065 PMID:27501770 PMID:27516001 PMID:27533082 PMID:27616075 PMID:27621308 PMID:27680515 PMID:27683180 PMID:27714481 PMID:27724982 PMID:27730344 PMID:27813088 PMID:27873457 PMID:27895058 PMID:27959731 PMID:27993330 PMID:28152038 PMID:28166194 PMID:28279309 PMID:28349240 PMID:28356770 PMID:28369373 PMID:28453743 PMID:28472496 PMID:28476805 PMID:28492532 PMID:28664506 PMID:28724667 PMID:28772286 PMID:28861920 PMID:28873162 PMID:28973705 PMID:28975465 PMID:29025599 PMID:29070607 PMID:29300620 PMID:29478780 PMID:29489754 PMID:29752822 PMID:29753700 PMID:29875428 PMID:29979965 PMID:30076369 PMID:30107858 PMID:30128536 PMID:30216591 PMID:30224644 PMID:30287823 PMID:30297838 PMID:30311369 PMID:30327374 PMID:30352134 PMID:30630526 PMID:30709381 PMID:30720243 PMID:30730202 PMID:30816478 PMID:30840781 PMID:31016814 PMID:31105275 PMID:31119730 PMID:31127191 PMID:31206626 PMID:31296311 PMID:31300551 PMID:31321604 PMID:31742824 PMID:31748977 PMID:31775759 PMID:31882575 PMID:31983162 PMID:32000721 PMID:32156018 PMID:32187361 PMID:32295079 PMID:32475984 PMID:32658383 PMID:32817165 PMID:32888145 PMID:32906206 PMID:33087929 PMID:33163847 PMID:33208383 PMID:33245408 PMID:33257846 PMID:33300245 PMID:33372952 PMID:33471991 PMID:33633026 PMID:33674644 PMID:33840814 PMID:34088725 PMID:34240179 PMID:34299313 PMID:34503094 PMID:34529667 PMID:34675114 PMID:34709361 PMID:35043155 PMID:35802772 PMID:35820297 PMID:35938033 PMID:35974385 PMID:36008825 PMID:36309086 PMID:36329109 PMID:36988593 PMID:17599090 More...
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RGD:2290571 |
NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
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Traf3 |
Tnf receptor-associated factor 3 |
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ISO |
ClinVar Annotator: match by term: Brainstem glioma |
ClinVar |
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NCBI chr 6:130,199,696...130,307,168
Ensembl chr 6:130,206,484...130,305,481
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G |
Trim29 |
tripartite motif-containing 29 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30929997 |
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NCBI chr 8:43,682,221...43,706,992
Ensembl chr 8:43,682,221...43,706,992
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G |
Trmt112 |
tRNA methyltransferase activator subunit 11-2 |
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ISO |
ClinVar Annotator: match by term: Ependymoma |
ClinVar |
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NCBI chr 1:204,103,298...204,104,151
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G |
Trpm1 |
transient receptor potential cation channel, subfamily M, member 1 |
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ISO |
ClinVar Annotator: match by term: Ependymoma |
ClinVar |
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NCBI chr 1:117,718,896...117,835,434
Ensembl chr 1:117,718,896...117,834,605
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G |
Trpt1 |
tRNA phosphotransferase 1 |
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ISO |
ClinVar Annotator: match by term: Ependymoma |
ClinVar |
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NCBI chr 1:204,186,295...204,191,294
Ensembl chr 1:204,186,295...204,191,294
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Trpv4 |
transient receptor potential cation channel, subfamily V, member 4 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:33629929 |
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NCBI chr12:41,938,533...41,977,517
Ensembl chr12:41,938,560...41,977,517
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G |
Tsc1 |
TSC complex subunit 1 |
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ISO |
ClinVar Annotator: match by term: Astrocytoma |
ClinVar |
PMID:25741868 |
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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 |
Txnrd2 |
thioredoxin reductase 2 |
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ISO |
ClinVar Annotator: match by term: Ependymoma |
ClinVar |
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NCBI chr11:82,519,996...82,568,156
Ensembl chr11:82,519,999...82,568,156
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G |
Vbp1 |
VHL binding protein 1 |
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ISO |
ClinVar Annotator: match by term: Ependymoma |
ClinVar |
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G |
Vegfb |
vascular endothelial growth factor B |
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ISO |
ClinVar Annotator: match by term: Ependymoma |
ClinVar |
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NCBI chr 1:204,172,297...204,178,046
Ensembl chr 1:204,172,225...204,177,944
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G |
Vps51 |
VPS51 subunit of GARP complex |
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ISO |
ClinVar Annotator: match by term: Ependymoma |
ClinVar |
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NCBI chr 1:203,360,434...203,370,422
Ensembl chr 1:203,360,440...203,370,430
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G |
Xaf1 |
XIAP associated factor 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28122345 |
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NCBI chr10:56,917,378...56,929,791
Ensembl chr10:56,917,121...56,929,770
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G |
Xbp1 |
X-box binding protein 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21138464 |
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NCBI chr14:80,390,629...80,395,713
Ensembl chr14:80,390,643...80,395,693
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G |
Xrcc1 |
X-ray repair cross complementing 1 |
susceptibility |
ISO |
CTD Direct Evidence: marker/mechanism DNA:SNP:cd: p.Q399R (rs25487) (human) |
CTD RGD |
PMID:25227852 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 |
Yeats4 |
YEATS domain containing 4 |
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IEP |
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RGD |
PMID:11521196 |
RGD:1598696 |
NCBI chr 7:52,858,313...52,865,454
Ensembl chr 7:52,858,305...52,865,635
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G |
Zfpl1 |
zinc finger protein-like 1 |
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ISO |
ClinVar Annotator: match by term: Ependymoma |
ClinVar |
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NCBI chr 1:203,374,500...203,378,518
Ensembl chr 1:203,374,504...203,378,487
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Zfta |
zinc finger translocation associated |
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ISO |
ClinVar Annotator: match by term: Ependymoma |
ClinVar |
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NCBI chr 1:204,604,557...204,612,688
Ensembl chr 1:204,604,103...204,612,688
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Znhit2 |
zinc finger, HIT-type containing 2 |
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ISO |
ClinVar Annotator: match by term: Ependymoma |
ClinVar |
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NCBI chr 1:203,354,297...203,355,578
Ensembl chr 1:203,354,138...203,355,636
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Znrd2 |
zinc ribbon domain containing 2 |
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ISO |
ClinVar Annotator: match by term: Ependymoma |
ClinVar |
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NCBI chr 1:203,017,682...203,019,465
Ensembl chr 1:203,017,682...203,019,465
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G |
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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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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G |
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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G |
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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G |
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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G |
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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G |
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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G |
Pik3r1 |
phosphoinositide-3-kinase regulatory subunit 1 |
severity |
ISO |
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RGD |
PMID:26286747 PMID:26956052 |
RGD:13782052, RGD:11343921 |
NCBI chr 2:32,878,942...32,963,668
Ensembl chr 2:32,882,032...32,963,631
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G |
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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G |
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 |
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 |
|
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 |
|
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 |
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 |
|
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 |
Msh6 |
mutS homolog 6 |
|
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 |
Rtel1 |
regulator of telomere elongation helicase 1 |
susceptibility ameliorates |
ISO |
DNA:SNP:cds:rs4809324 (human) DNA:SNP:cds:rs6089953|rs6010620|rs2297440 (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 |
Acod1 |
aconitate decarboxylase 1 |
|
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 |
|
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 |
ADP-ribosylation factor like GTPase 11 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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
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G |
Cnmd |
chondromodulin |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr15:36,541,200...36,592,016
Ensembl chr15:36,541,218...36,584,118
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G |
Scel |
sciellin |
|
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 |
|
|
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 |
|
|
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 |
|
|
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 |
|
|
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 |
|
|
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 |
|
|
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 |
|
|
NCBI chr15:35,707,185...35,727,704
Ensembl chr15:35,707,060...35,727,509
|
|
G |
Sucla2 |
succinate-CoA ligase ADP-forming subunit beta |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr15:48,752,356...48,805,495
Ensembl chr15:48,752,312...48,805,138
|
|
G |
Sugt1 |
SGT1 homolog, MIS12 kinetochore complex assembly cochaperone |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
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 |
|
|
NCBI chr15:78,256,030...78,434,168
Ensembl chr15:78,257,121...78,434,265
|
|
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 |
|
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 |
Actr1a |
actin related protein 1A |
|
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 |
|
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 |
ADP ribosylation factor like GTPase 3 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
ISO |
ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma |
ClinVar |
PMID:12068298 |
|
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 |
|
ISO |
ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma |
ClinVar |
PMID:12068298 |
|
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 |
|
ISO |
ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma |
ClinVar |
PMID:12068298 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
ISO |
ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma |
ClinVar |
PMID:12068298 |
|
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 |
|
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 |
|
ISO |
ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma |
ClinVar |
PMID:12068298 |
|
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 |
|
ISO |
ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma |
ClinVar |
PMID:12068298 |
|
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 |
|
ISO |
ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma |
ClinVar |
PMID:12068298 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
ISO |
ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma |
ClinVar |
PMID:12068298 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
ISO |
ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma |
ClinVar |
PMID:12068298 |
|
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 |
|
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 |
|
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 |
|
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 |
|
ISO |
ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma |
ClinVar |
PMID:12068298 |
|
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 helicase 1 |
|
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 |
|
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 |
|
ISO |
ClinVar Annotator: match by term: Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype |
ClinVar |
PMID:25741868 PMID:28492532 |
|
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 |
|
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 |
|
ISO |
ClinVar Annotator: match by term: Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype |
ClinVar |
PMID:25741868 PMID:28492532 |
|
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 |
|
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 |
|
ISO |
ClinVar Annotator: match by term: Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype |
ClinVar |
PMID:25741868 PMID:28492532 |
|
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 |
|
ISO |
ClinVar Annotator: match by term: Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype |
ClinVar |
PMID:25741868 |
|
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 |
|
ISO |
ClinVar Annotator: match by term: Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype |
ClinVar |
PMID:25741868 |
|
NCBI chr13:46,001,589...46,073,868
Ensembl chr13:46,002,542...46,073,872
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G |
Nf1 |
neurofibromin 1 |
|
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 |
Pms2 |
PMS1 homolog 2, mismatch repair system component |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
Bcl7c |
BAF chromatin remodeling complex subunit BCL7C |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
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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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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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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Adgrb1 |
adhesion G protein-coupled receptor B1 |
treatment |
ISO |
mRNA:decreased expression:brain: |
RGD |
PMID:12507886 PMID:16244591 |
RGD:13831355, RGD:13831352 |
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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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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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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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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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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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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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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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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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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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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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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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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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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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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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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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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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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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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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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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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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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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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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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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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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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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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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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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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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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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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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 |
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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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G |
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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G |
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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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 |
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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G |
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
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G |
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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G |
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 |
onset disease_progression |
ISO |
DNA:mutation:cds:p.R132H(human) ClinVar Annotator: match by term: Glioblastoma | ClinVar Annotator: match by term: Glioblastoma, somatic DNA:mutation:cds:p.R132(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:19765000 PMID:25495392 More...
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RGD:11522732, RGD:11074562 |
NCBI chr 9:66,534,146...66,563,703
Ensembl chr 9:66,534,146...66,563,708
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G |
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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G |
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 |
|
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 |
|
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 |
|
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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G |
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 |
|
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 |
|
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 |
|
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 |
|
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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G |
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
| |