RGD DISEASE ONTOLOGY - ANNOTATIONS
RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
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ACVR1
activin A receptor type 1
ISO
ClinVar Annotator: match by term: Brainstem glioma
ClinVar
PMID:818090 PMID:7068725 PMID:19085907 PMID:19330033 PMID:22977237 PMID:25326637 PMID:25741868 PMID:26619011 PMID:28492532 PMID:29307777 PMID:31012264 PMID:33973349 More...
NCBI chr10:43,139,396...43,281,024
Ensembl chr10:43,139,528...43,281,177
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ADGRA2
adhesion G protein-coupled receptor A2
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
NCBI chr 8:35,834,840...35,879,851
Ensembl chr 8:35,834,876...35,878,233
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AKT2
AKT serine/threonine kinase 2
ISO
protein:increased expression:cytoplasm (human)
RGD
PMID:19330838
RGD:2313297
NCBI chr 6:34,688,585...34,740,458
Ensembl chr 6:34,690,462...34,720,781
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AMOTL1
angiomotin like 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:34480788
NCBI chr 1:85,927,458...86,080,239
Ensembl chr 1:85,996,908...86,079,857
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ANGPT2
angiopoietin 2
ISO
protein:increased expression:brain (rat)
RGD
PMID:18615861
RGD:2314189
NCBI chr 8:6,283,619...6,345,320
Ensembl chr 8:6,280,584...6,344,729
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APC
APC regulator of WNT signaling pathway
ISO
ClinVar Annotator: match by term: Malignant glioma
ClinVar
PMID:25741868
NCBI chr23:15,992,437...16,135,117
Ensembl chr23:16,042,287...16,137,067
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APOD
apolipoprotein D
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16865689
NCBI chr15:89,612,210...89,624,038
Ensembl chr15:89,612,040...89,624,012
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AREG
amphiregulin
ISO
RGD
PMID:8621257
RGD:2292668
NCBI chr 7:22,979,574...22,990,179
Ensembl chr 7:22,980,249...22,990,162
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ARHGAP32
Rho GTPase activating protein 32
ISO
ClinVar Annotator: match by term: Glioma susceptibility 2
ClinVar
NCBI chr 1:120,108,671...120,333,200
Ensembl chr 1:120,112,042...120,329,370
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ARID1B
AT-rich interaction domain 1B
ISO
ClinVar Annotator: match by term: Astrocytoma
ClinVar
PMID:25741868
NCBI chr13:84,351,298...84,799,691
G
ARL2
ARF like GTPase 2
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
NCBI chr 1:9,212,903...9,219,985
Ensembl chr 1:9,213,123...9,219,927
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ASPM
assembly factor for spindle microtubules
disease_progression
ISO
mRNA:increased expression:brain:
RGD
PMID:20142996
RGD:13442488
NCBI chr25:32,269,518...32,334,617
Ensembl chr25:32,281,424...32,334,977
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ATF5
activating transcription factor 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28861715
NCBI chr 6:43,085,634...43,090,234
Ensembl chr 6:43,084,665...43,091,751
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ATG2A
autophagy related 2A
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
NCBI chr 1:9,316,567...9,339,244
Ensembl chr 1:9,316,675...9,339,265
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ATG7
autophagy related 7
treatment
ISO
RGD
PMID:25542083
RGD:11557994
NCBI chr22:47,187,305...47,571,309
Ensembl chr22:47,325,614...47,571,070
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ATM
ATM serine/threonine kinase
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...
NCBI chr 1:99,653,208...99,786,889
Ensembl chr 1:99,653,139...99,791,520
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ATP1B2
ATPase Na+/K+ transporting subunit beta 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16865689
NCBI chr16:7,030,016...7,035,620
Ensembl chr16:7,030,055...7,037,754
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ATRX
ATRX chromatin remodeler
ISO
CTD Direct Evidence: marker/mechanism DNA:mutations: :multiple
CTD RGD
PMID:23104868 PMID:23583981 PMID:24705251
RGD:11040587
NCBI chr X:66,449,830...66,737,220
Ensembl chr X:66,448,449...66,737,164
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BAD
BCL2 associated agonist of cell death
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
NCBI chr 1:9,949,717...9,964,433
Ensembl chr 1:9,949,762...9,964,432
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BANP
BTG3 associated nuclear protein
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
NCBI chr 5:73,341,241...73,466,636
Ensembl chr 5:73,341,729...73,466,949
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BAP1
BRCA1 associated deubiquitinase 1
ISO
ClinVar Annotator: match by term: Astrocytoma
ClinVar
PMID:25741868
NCBI chr22:13,765,510...13,774,866
Ensembl chr22:13,764,686...13,774,740
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BARHL1
BarH like homeobox 1
ISO
protein:increased expression:brain:
RGD
PMID:28956815
RGD:14390165
NCBI chr12:5,549,484...5,557,348
Ensembl chr12:5,549,234...5,556,945
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BATF2
basic leucine zipper ATF-like transcription factor 2
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
NCBI chr 1:9,220,087...9,248,964
Ensembl chr 1:9,239,938...9,248,971
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BCAN
brevican
severity
ISO
protein:increased expression:brain:
RGD
PMID:11585735 PMID:12799382 PMID:16061654 PMID:23253190
RGD:14392782 RGD:14392783 RGD:14392797 RGD:14392804
NCBI chr20:7,203,546...7,221,108
Ensembl chr20:7,203,378...7,220,973
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BDKRB2
bradykinin receptor B2
ISO
mRNA:increased expression:brain
RGD
PMID:20080302
RGD:4891047
NCBI chr24:74,084,907...74,125,604
Ensembl chr24:74,118,210...74,122,909
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BIRC5
baculoviral IAP repeat containing 5
ISO
protein:increased expression:brain
RGD
PMID:17701349
RGD:2293131
NCBI chr16:70,226,824...70,237,000
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BMI1
BMI1 proto-oncogene, polycomb ring finger
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23383216
NCBI chr 9:22,095,592...22,104,894
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BRAF
B-Raf proto-oncogene, serine/threonine kinase
ISO
ClinVar Annotator: match by term: Brainstem glioma
ClinVar
PMID:12068308 PMID:12198537 PMID:12447372 PMID:12460918 PMID:12460919 PMID:12619120 PMID:12644542 PMID:12670889 PMID:12794760 PMID:12960123 PMID:14513361 PMID:14602780 PMID:14679157 PMID:15001635 PMID:15035987 PMID:15126572 PMID:15181070 PMID:15342696 PMID:15356022 PMID:15386408 PMID:15687339 PMID:15998781 PMID:16015629 PMID:16174717 PMID:16187918 PMID:16772349 PMID:17374713 PMID:17488796 PMID:17785355 PMID:18398503 PMID:19001320 PMID:19010912 PMID:19018267 PMID:19238210 PMID:19404918 PMID:19537845 PMID:19561230 PMID:19571295 PMID:20350999 PMID:20413299 PMID:20619739 PMID:20630094 PMID:20818844 PMID:20823850 PMID:20857202 PMID:21107320 PMID:21107323 PMID:21129611 PMID:21156289 PMID:21163703 PMID:21426297 PMID:21483012 PMID:21639808 PMID:21683865 PMID:21975775 PMID:22038996 PMID:22039425 PMID:22048237 PMID:22113612 PMID:22180495 PMID:22281684 PMID:22351686 PMID:22356324 PMID:22389471 PMID:22448344 PMID:22536370 PMID:22586120 PMID:22608338 PMID:22649091 PMID:22663011 PMID:22735384 PMID:22743296 PMID:22773810 PMID:22805292 PMID:22972589 PMID:22997239 PMID:23020132 PMID:23031422 PMID:23251002 PMID:23302800 PMID:23325582 PMID:23470635 PMID:23524406 PMID:23549875 PMID:23614898 PMID:23685455 PMID:23812671 PMID:23833300 PMID:23845441 PMID:23918947 PMID:24107445 PMID:24163374 PMID:24388723 PMID:24508103 PMID:24512911 PMID:24576830 PMID:24583796 PMID:24586605 PMID:24594804 PMID:24670642 PMID:24717435 PMID:25024077 PMID:25079330 PMID:25157968 PMID:25370471 PMID:25741868 PMID:25950823 PMID:25989278 PMID:26619011 PMID:26678033 PMID:28854169 PMID:29925953 PMID:31891627 PMID:34476331 More...
NCBI chr21:109,495,525...109,690,261
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BRCA2
BRCA2 DNA repair associated
ISO
ClinVar Annotator: match by term: Glioma susceptibility 3 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 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
ClinVar OMIM
PMID:251866 PMID:278235 PMID:2200631 PMID:2661312 PMID:8589730 PMID:8673090 PMID:8988179 PMID:9150154 PMID:9150172 PMID:9150174 PMID:9361038 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:11039575 PMID:11062481 PMID:11149425 PMID:11179017 PMID:11207042 PMID:11251181 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:12204006 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:15026808 PMID:15070707 PMID:15117986 PMID:15131399 PMID:15146557 PMID:15168169 PMID:15235023 PMID:15290653 PMID:15340362 PMID:15382066 PMID:15548363 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:16792514 PMID:16825431 PMID:16847550 PMID:16905680 PMID:16912212 PMID:16920162 PMID:16931905 PMID:16978908 PMID:17011978 PMID:17063270 PMID:17100994 PMID:17148771 PMID:17262179 PMID:17301269 PMID:17453335 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:18724707 PMID:18752448 PMID:18821011 PMID:18951461 PMID:19016756 PMID:19043619 PMID:19241424 PMID:19353265 PMID:19491284 PMID:19499246 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:20215541 PMID:20373018 PMID:20383589 PMID:20406929 PMID:20616022 PMID:20694749 PMID:20736950 PMID:20858050 PMID:20960228 PMID:21120943 PMID:21205087 PMID:21232165 PMID:21324516 PMID:21356067 PMID:21394826 PMID:21497495 PMID:21520273 PMID:21523855 PMID:21548014 PMID:21559243 PMID:21643751 PMID:21673748 PMID:21702907 PMID:21709188 PMID:21719596 PMID:21735045 PMID:21913181 PMID:21918853 PMID:21952622 PMID:21990134 PMID:22006311 PMID:22009639 PMID:22085629 PMID:22109874 PMID:22144684 PMID:22217648 PMID:22382806 PMID:22399190 PMID:22426013 PMID:22430266 PMID:22460208 PMID:22476429 PMID:22486713 PMID:22505045 PMID:22535016 PMID:22632462 PMID:22666503 PMID:22682623 PMID:22703879 PMID:22752604 PMID:22762150 PMID:22798144 PMID:22848303 PMID:22875147 PMID:22895246 PMID:22923021 PMID:22970155 PMID:23028338 PMID:23035815 PMID:23096105 PMID:23096355 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:24010542 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:24735155 PMID:24737347 PMID:24814045 PMID:24817641 PMID:24830819 PMID:24884479 PMID:24916970 PMID:25066507 PMID:25085752 PMID:25136594 PMID:25146914 PMID:25186627 PMID:25233892 PMID:25236687 PMID:25256924 PMID:25274553 PMID:25330149 PMID:25348012 PMID:25371446 PMID:25382762 PMID:25395318 PMID:25428789 PMID:25447315 PMID:25452441 PMID:25476495 PMID:25480878 PMID:25525159 PMID:25556971 PMID:25628955 PMID:25637381 PMID:25639900 PMID:25682074 PMID:25685387 PMID:25716084 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:26207792 PMID:26219728 PMID:26250392 PMID:26287763 PMID:26295337 PMID:26300996 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:26709275 PMID:26733283 PMID:26757417 PMID:26786923 PMID:26834852 PMID:26845104 PMID:26852015 PMID:26933808 PMID:26968956 PMID:27000661 PMID:27060066 PMID:27062684 PMID:27124784 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:28127413 PMID:28176296 PMID:28179634 PMID:28243543 PMID:28281021 PMID:28283652 PMID:28294317 PMID:28324225 PMID:28339459 PMID:28349240 PMID:28423363 PMID:28476184 PMID:28477318 PMID:28492532 PMID:28503720 PMID:28541631 PMID:28616458 PMID:28657667 PMID:28664506 PMID:28692638 PMID:28715532 PMID:28724667 PMID:28726808 PMID:28782087 PMID:28802053 PMID:28825054 PMID:28831036 PMID:28905878 PMID:28915716 PMID:28918466 PMID:28973083 PMID:28993434 PMID:29020732 PMID:29061375 PMID:29084914 PMID:29088781 PMID:29161300 PMID:29176636 PMID:29192238 PMID:29202330 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:29395620 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:29945567 PMID:29988080 PMID:30014164 PMID:30078507 PMID:30093976 PMID:30122538 PMID:30128899 PMID:30192042 PMID:30199306 PMID:30203341 PMID:30254663 PMID:30262796 PMID:30274973 PMID:30287823 PMID:30309222 PMID:30309722 PMID:30322717 PMID:30350268 PMID:30415210 PMID:30425037 PMID:30472649 PMID:30548481 PMID:30606148 PMID:30612635 PMID:30623411 PMID:30630528 PMID:30652428 PMID:30696104 PMID:30702160 PMID:30720243 PMID:30720863 PMID:30736435 PMID:30787465 PMID:30792206 PMID:30825404 PMID:30875412 PMID:30972954 PMID:30982232 PMID:31090900 PMID:31112341 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:31409081 PMID:31411802 PMID:31444830 PMID:31447099 PMID:31451522 PMID:31569370 PMID:31589614 PMID:31642931 PMID:31721781 PMID:31742824 PMID:31782247 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:32489267 PMID:32521533 PMID:32532514 PMID:32571290 PMID:32581362 PMID:32606146 PMID:32658311 PMID:32710294 PMID:32719484 PMID:32720237 PMID:32772980 PMID:32778078 PMID:32806537 PMID:32824581 PMID:32846166 PMID:32853339 PMID:32856869 PMID:32862574 PMID:32875559 PMID:32885271 PMID:32923906 PMID:33008098 PMID:33087929 PMID:33113089 PMID:33293522 PMID:33309985 PMID:33372952 PMID:33461583 PMID:33471991 PMID:33478551 PMID:33608381 PMID:33609447 PMID:33629534 PMID:33670479 PMID:33773534 PMID:33801055 PMID:33850850 PMID:33918338 PMID:33964450 PMID:34008015 PMID:34022715 PMID:34097676 PMID:34196900 PMID:34235180 PMID:34298626 PMID:34399810 PMID:34413315 PMID:34567246 PMID:34597585 PMID:34645131 PMID:34657357 PMID:34657373 PMID:34687993 PMID:34717758 PMID:35220195 PMID:35264596 PMID:35353237 PMID:35451682 PMID:35535697 PMID:35714671 PMID:35753294 PMID:35875314 PMID:35949895 PMID:36119527 PMID:36232564 PMID:36329109 PMID:36370215 PMID:36988593 PMID:37349538 PMID:37461096 PMID:38417439 PMID:38922859 More...
NCBI chr 3:11,070,086...11,155,257
Ensembl chr 3:11,071,682...11,155,213
G
BRD7
bromodomain containing 7
ISO
protein:increased expression:brain:
RGD
PMID:24404152
RGD:9586441
NCBI chr 5:36,114,951...36,168,786
Ensembl chr 5:36,112,289...36,168,728
G
C3
complement C3
treatment
ISO
RGD
PMID:21678475
RGD:7401275
NCBI chr 6:6,250,422...6,289,264
G
CACNG2
calcium voltage-gated channel auxiliary subunit gamma 2
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
NCBI chr19:19,263,950...19,406,952
Ensembl chr19:19,267,426...19,406,883
G
CAMK2A
calcium/calmodulin dependent protein kinase II alpha
disease_progression
ISO
RGD
PMID:29393370
RGD:13702478
NCBI chr23:52,829,438...52,899,428
Ensembl chr23:52,829,350...52,899,375
G
CAMK2B
calcium/calmodulin dependent protein kinase II beta
disease_progression
ISO
RGD
PMID:15750623
RGD:13702479
NCBI chr21:14,342,751...14,451,274
Ensembl chr21:14,342,892...14,451,282
G
CAMKK2
calcium/calmodulin dependent protein kinase kinase 2
disease_progression
ISO
RGD
PMID:27012733
RGD:13674178
NCBI chr11:116,613,003...116,648,389
Ensembl chr11:116,615,996...116,653,261
G
CAPN1
calpain 1
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
NCBI chr 1:9,014,087...9,050,389
Ensembl chr 1:9,014,084...9,049,804
G
CAT
catalase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21138464
NCBI chr 1:30,792,533...30,828,920
Ensembl chr 1:30,792,399...30,829,592
G
CATSPERZ
catsper channel auxiliary subunit zeta
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
NCBI chr 1:9,930,186...9,934,024
Ensembl chr 1:9,930,312...9,933,909
G
CAV1
caveolin 1
ISO
RGD
PMID:22528460
RGD:6784517
NCBI chr21:85,222,724...85,258,562
Ensembl chr21:85,222,879...85,258,627
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CAV2
caveolin 2
ISO
RGD
PMID:22528460
RGD:6784517
NCBI chr21:85,197,452...85,206,521
Ensembl chr21:85,197,537...85,206,588
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CCDC88B
coiled-coil domain containing 88B
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
G
CCN1
cellular communication network factor 1
exacerbates
ISO
human cells in mouse model
RGD
PMID:15026334
RGD:329845555
NCBI chr20:47,783,270...47,786,216
Ensembl chr20:47,783,935...47,785,997
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CCND1
cyclin D1
disease_progression susceptibility
ISO
RGD
PMID:21844184 PMID:22304571
RGD:13681930 RGD:13702091
NCBI chr 1:4,909,616...4,922,272
Ensembl chr 1:4,907,353...4,922,357
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CCR4
C-C motif chemokine receptor 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17522861
NCBI chr15:77,435,195...77,439,164
Ensembl chr15:77,437,265...77,438,347
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CD40
CD40 molecule
treatment
ISO
RGD
PMID:24878890
RGD:11352275
NCBI chr 2:17,753,713...17,765,134
Ensembl chr 2:17,753,394...17,764,566
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CD80
CD80 molecule
ISO
RGD
PMID:10078962
RGD:727266
NCBI chr22:61,258,281...61,294,772
G
CDC42BPG
CDC42 binding protein kinase gamma
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
NCBI chr 1:9,390,874...9,411,503
Ensembl chr 1:9,390,825...9,412,697
G
CDC42EP2
CDC42 effector protein 2
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
NCBI chr 1:8,914,214...8,921,031
Ensembl chr 1:8,914,787...8,915,437
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CDCA5
cell division cycle associated 5
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
NCBI chr 1:9,151,503...9,157,412
Ensembl chr 1:9,151,712...9,157,456
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CDK4
cyclin dependent kinase 4
disease_progression
ISO
RGD
PMID:21844184 PMID:23761023
RGD:13702090 RGD:13702091
NCBI chr11:53,661,877...53,665,688
Ensembl chr11:53,659,336...53,664,861
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CDK6
cyclin dependent kinase 6
severity
ISO
DNA:amplification:
RGD
PMID:9102208 PMID:22736304
RGD:13702093 RGD:13702094
NCBI chr21:56,167,731...56,403,976
Ensembl chr21:56,170,450...56,393,808
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CDKN1A
cyclin dependent kinase inhibitor 1A
treatment severity
ISO
DNA:hypermethylation:promoter:
RGD
PMID:9144534 PMID:18791688 PMID:20844987
RGD:13702125 RGD:13702128 RGD:13702129
NCBI chr17:35,445,668...35,454,334
Ensembl chr17:35,445,223...35,454,342
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CHAF1A
chromatin assembly factor 1 subunit A
susceptibility
ISO
DNA:SNP:intron:rs243356(human)
RGD
PMID:18048407
RGD:9587459
NCBI chr 6:4,134,405...4,174,281
Ensembl chr 6:4,137,738...4,174,988
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CHAF1B
chromatin assembly factor 1 subunit B
disease_progression
ISO
protein:increased expression:brain:
RGD
PMID:24039914
RGD:9587472
NCBI chr 2:80,379,637...80,409,626
Ensembl chr 2:80,380,425...80,409,687
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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...
NCBI chr19:11,567,529...11,621,180
Ensembl chr19:11,567,528...11,604,792
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CHI3L1
chitinase 3 like 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20506295
NCBI chr25:26,160,993...26,169,005
Ensembl chr25:26,160,961...26,169,566
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CLCN2
chloride voltage-gated channel 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12843258
NCBI chr15:5,057,687...5,073,596
Ensembl chr15:5,057,900...5,073,184
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CLCN3
chloride voltage-gated channel 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12843258
NCBI chr 7:115,826,756...115,926,842
Ensembl chr 7:115,826,778...115,928,609
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CLCN5
chloride voltage-gated channel 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12843258
NCBI chr X:46,772,176...46,934,886
Ensembl chr X:46,772,305...46,927,861
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CNTN2
contactin 2
severity
ISO
mRNA, protein:increased expression:brain (human)
RGD
PMID:11280781
RGD:734799
NCBI chr25:24,262,092...24,296,740
Ensembl chr25:24,261,651...24,296,850
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CPLANE1
ciliogenesis and planar polarity effector complex subunit 1
ISO
ClinVar Annotator: match by term: Astrocytoma
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 4:35,981,299...36,131,575
Ensembl chr 4:35,979,110...36,130,565
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CSF1
colony stimulating factor 1
ISO
RGD
PMID:15728459
RGD:2293641
NCBI chr20:23,615,107...23,635,399
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CTSB
cathepsin B
ISO
RGD
PMID:17287256
RGD:2315520
NCBI chr 8:7,246,076...7,269,655
Ensembl chr 8:7,246,013...7,268,854
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CUNH11orf65
chromosome unknown C11orf65 homolog
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...
NCBI chr 1:99,804,191...99,879,834
Ensembl chr 1:99,804,218...99,827,182
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CXCR3
C-X-C motif chemokine receptor 3
ISO
RGD
PMID:16434036
RGD:5135509
NCBI chr X:61,430,723...61,433,777
Ensembl chr X:61,430,725...61,433,386
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CYP2E1
cytochrome P450 family 2 subfamily E member 1
ISO
DNA:snp:promoter:c.-1053C>T (human)
RGD
PMID:12540498
RGD:1358568
NCBI chr26:53,390,054...53,403,309
Ensembl chr26:53,390,089...53,404,211
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DCN
decorin
disease_progression
ISO
RGD
PMID:15475879
RGD:2311425
NCBI chr11:86,552,392...86,590,229
Ensembl chr11:86,551,072...86,586,891
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DCX
doublecortin
treatment disease_progression
ISO
RGD
PMID:17178868 PMID:19681167 PMID:21477071
RGD:12904748 RGD:12904754 RGD:12904761
NCBI chr X:99,106,291...99,220,479
Ensembl chr X:99,120,505...99,220,237
G
DDR1
discoidin domain receptor tyrosine kinase 1
severity
ISO
mRNA, protein:increased expression:brain (human)
RGD
PMID:16652150
RGD:151347531
NCBI chr17:41,564,271...41,583,404
Ensembl chr17:41,564,992...41,575,682
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DEPDC5
DEP domain containing 5, GATOR1 subcomplex subunit
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
NCBI chr19:14,634,836...14,798,050
Ensembl chr19:14,635,947...14,787,591
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DICER1
dicer 1, ribonuclease III
ISO
ClinVar Annotator: match by term: Pediatric high-grade glioma
ClinVar
PMID:25741868 PMID:26526666 PMID:28492532 PMID:29708584
NCBI chr24:72,915,550...72,986,658
Ensembl chr24:72,915,499...72,963,006
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DLK1
delta like non-canonical Notch ligand 1
ISO
RGD
PMID:16288219
RGD:1625600
NCBI chr24:78,687,542...78,695,782
Ensembl chr24:78,687,668...78,695,607
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DLL4
delta like canonical Notch ligand 4
ameliorates
ISO
RGD
PMID:17183313
RGD:155791441
NCBI chr26:42,056,473...42,066,283
Ensembl chr26:42,056,331...42,065,828
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DMXL1
Dmx like 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16865689
NCBI chr23:22,312,178...22,488,151
Ensembl chr23:22,312,204...22,490,906
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DNAJC4
DnaJ heat shock protein family (Hsp40) member C4
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
NCBI chr 1:10,001,620...10,005,952
Ensembl chr 1:10,001,871...10,005,237
G
DPF2
double PHD fingers 2
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
NCBI chr 1:8,888,534...8,908,446
Ensembl chr 1:8,886,710...8,908,522
G
E2F1
E2F transcription factor 1
severity
ISO
RGD
PMID:28042322
RGD:13702468
NCBI chr 2:37,968,541...37,980,461
Ensembl chr 2:37,968,556...37,980,326
G
E2F3
E2F transcription factor 3
disease_progression
ISO
RGD
PMID:28337965
RGD:13702470
NCBI chr17:51,714,052...51,805,827
G
EFEMP1
EGF containing fibulin extracellular matrix protein 1
ISO
protein:increased expression:brain:
RGD
PMID:19887559
RGD:10401656
NCBI chr14:50,989,553...51,048,149
Ensembl chr14:50,989,795...51,048,708
G
EFL1
elongation factor like GTPase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25015090
NCBI chr26:1,134,150...1,270,216
Ensembl chr26:1,134,208...1,270,885
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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:13702473 RGD:13702474
NCBI chr 7:57,810,110...57,911,361
Ensembl chr 7:57,811,728...57,911,516
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EGFR
epidermal growth factor receptor
treatment
ISO
ClinVar Annotator: match by term: Brainstem glioma
RGD ClinVar
PMID:10616092 PMID:17177598 PMID:26619011
RGD:38599219
NCBI chr21:3,664,622...3,853,492
Ensembl chr21:3,666,339...3,853,239
G
EHBP1L1
EH domain binding protein 1 like 1
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
NCBI chr 1:8,648,318...8,664,990
Ensembl chr 1:8,648,641...8,664,759
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EHD1
EH domain containing 1
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
NCBI chr 1:9,356,128...9,382,204
Ensembl chr 1:9,356,177...9,382,832
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ENTPD2
ectonucleoside triphosphate diphosphohydrolase 2
ISO
RGD
PMID:19558578
RGD:9685528
NCBI chr12:1,137,500...1,142,798
Ensembl chr12:1,137,495...1,143,231
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EPHA5
EPH receptor A5
ISO
ClinVar Annotator: match by term: Astrocytoma
ClinVar
PMID:25741868
NCBI chr 7:3,219,396...3,564,416
Ensembl chr 7:3,219,449...3,559,854
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EPO
erythropoietin
ISO
RGD
PMID:21749867
RGD:10400910
NCBI chr28:12,487,222...12,491,986
Ensembl chr28:12,489,766...12,491,908
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EPOR
erythropoietin receptor
ISO
RGD
PMID:21749867
RGD:10400910
NCBI chr 6:10,313,382...10,320,196
Ensembl chr 6:10,313,775...10,320,066
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ERBB2
erb-b2 receptor tyrosine kinase 2
ISO
ClinVar Annotator: match by term: Glioma susceptibility 1
OMIM ClinVar
PMID:15457249
NCBI chr16:66,435,488...66,464,993
Ensembl chr16:66,434,251...66,464,952
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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 6:38,857,067...38,900,177
Ensembl chr 6:38,854,803...38,872,967
G
ERCC2
ERCC excision repair 2, TFIIH core complex helicase subunit
susceptibility
ISO
RGD
PMID:11319176
RGD:10401082
NCBI chr 6:38,804,296...38,823,229
Ensembl chr 6:38,801,423...38,823,073
G
ERCC5
ERCC excision repair 5, endonuclease
susceptibility
ISO
DNA:SNP:cd: p.D1558H (rs17655) (human)
RGD
PMID:23534771
RGD:401850601
NCBI chr 3:81,406,103...81,441,422
Ensembl chr 3:81,405,872...81,436,040
G
ESRRA
estrogen related receptor alpha
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
NCBI chr 1:9,918,741...9,929,481
Ensembl chr 1:9,917,436...9,929,450
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FAM107A
family with sequence similarity 107 member A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16865689
NCBI chr22:19,859,853...19,923,256
Ensembl chr22:19,859,809...19,923,487
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FAM89B
family with sequence similarity 89 member B
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
NCBI chr 1:8,666,812...8,669,128
Ensembl chr 1:8,667,370...8,668,320
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FANCA
FA complementation group A
ISO
ClinVar Annotator: match by term: Pediatric high-grade glioma
ClinVar
PMID:25741868
NCBI chr 5:75,073,161...75,149,110
Ensembl chr 5:75,073,358...75,148,591
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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
NCBI chr X:13,321,304...13,352,368
Ensembl chr X:13,321,527...13,342,478
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FAU
FAU ubiquitin like and ribosomal protein S30 fusion
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
NCBI chr 1:9,106,708...9,108,284
Ensembl chr 1:9,106,252...9,109,304
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FBXW7
F-box and WD repeat domain containing 7
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18931460
NCBI chr 7:98,894,261...99,105,955
Ensembl chr 7:98,892,504...99,106,084
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FERMT3
FERM domain containing kindlin 3
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
NCBI chr 1:10,012,007...10,031,177
Ensembl chr 1:10,009,626...10,031,209
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FGF2
fibroblast growth factor 2
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:10673511
NCBI chr 7:70,089,394...70,157,423
G
FGFR1
fibroblast growth factor receptor 1
ISO
ClinVar Annotator: match by term: Astrocytoma | ClinVar Annotator: match by term: Brainstem glioma
ClinVar
PMID:10766980 PMID:23819449 PMID:25705862 PMID:25741868 PMID:26619011 PMID:26822237 PMID:26942290 PMID:27626068 PMID:33448156 More...
NCBI chr 8:36,426,116...36,485,683
Ensembl chr 8:36,427,110...36,485,508
G
FKBP2
FKBP prolyl isomerase 2
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
Ensembl chr 1:9,992,149...9,994,012
G
FLRT1
fibronectin leucine rich transmembrane protein 1
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
NCBI chr 1:10,120,931...10,205,351
Ensembl chr 1:10,121,823...10,123,844
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FLT3LG
fms related receptor tyrosine kinase 3 ligand
treatment
ISO
RGD
PMID:15564139
RGD:11049500
NCBI chr 6:42,653,820...42,665,017
Ensembl chr 6:42,654,412...42,660,458
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FRMD8
FERM domain containing 8
ISO
ClinVar Annotator: match by term: Glioma susceptibility 9
ClinVar
NCBI chr 1:8,824,966...8,853,292
Ensembl chr 1:8,827,122...8,852,792
G
FTH1
ferritin heavy chain 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21385903
NCBI chr 1:11,837,533...11,840,926
G
GDNF
glial cell derived neurotrophic factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19138852
NCBI chr 4:36,662,033...36,691,761
Ensembl chr 4:36,665,009...36,684,257
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GJA1
gap junction protein alpha 1
ISO
RGD
PMID:22808518
RGD:7207264
NCBI chr13:52,397,291...52,410,341
Ensembl chr13:52,396,109...52,410,339
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GLB1
galactosidase beta 1
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
NCBI chr15:77,480,895...77,592,130
Ensembl chr15:77,480,598...77,592,120
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GON4L
gon-4 like
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
NCBI chr20:8,021,625...8,230,165
Ensembl chr20:8,025,074...8,127,097
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GPHA2
glycoprotein hormone subunit alpha 2
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
NCBI chr 1:9,296,826...9,299,612
Ensembl chr 1:9,298,621...9,299,309
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GPR137
G protein-coupled receptor 137
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
NCBI chr 1:9,944,971...9,949,623
Ensembl chr 1:9,944,579...9,949,624
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GSTM3
glutathione S-transferase mu 3
ISO
DNA: deletion: intron 6
RGD
PMID:16598069
RGD:5688743
NCBI chr20:23,797,794...23,802,910
Ensembl chr20:23,799,177...23,802,921
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GSTP1
glutathione S-transferase pi 1
susceptibility
ISO
DNA:polymorphism:exon:p.I105V (rs1695) (human) CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:15006924 PMID:16899598
RGD:5490124
NCBI chr 1:6,676,897...6,679,936
G
HDAC3
histone deacetylase 3
disease_progression
ISO
mRNA,protein:increased expression:brain: ClinVar Annotator: match by term: Ependymoma
RGD ClinVar
PMID:23685192
RGD:9590201
NCBI chr23:44,246,296...44,263,127
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HELLS
helicase, lymphoid specific
severity
ISO
RGD
PMID:28042322
RGD:13702468
NCBI chr 9:87,780,897...87,835,087
Ensembl chr 9:87,796,502...87,834,619
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HGF
hepatocyte growth factor
disease_progression
ISO
protein:increased expression:brain:
RGD
PMID:12115353
RGD:8548633
NCBI chr21:67,118,785...67,193,506
Ensembl chr21:67,120,722...67,193,504
G
HMGB1
high mobility group box 1
treatment
ISO
RGD
PMID:10830965
RGD:10402059
NCBI chr 3:9,353,333...9,357,765
G
HMGN5
high mobility group nucleosome binding domain 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22109888
NCBI chr X:70,103,170...70,201,472
Ensembl chr X:70,102,034...70,111,019
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HOXD11
homeobox D11
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:33614284
NCBI chr10:61,681,474...61,693,974
Ensembl chr10:61,682,400...61,684,168
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HRAS
HRas proto-oncogene, GTPase
ISO
CTD Direct Evidence: marker/mechanism
CTD MouseDO
PMID:30619488
NCBI chr 1:343,613...345,782
Ensembl chr 1:343,506...346,637
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HSPA5
heat shock protein family A (Hsp70) member 5
ISO
protein:increased expression
RGD
PMID:21112319
RGD:5685704
NCBI chr12:12,920,705...12,925,888
Ensembl chr12:12,920,710...12,927,431
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IDH1
isocitrate dehydrogenase (NADP(+)) 1
susceptibility
ISO
ClinVar Annotator: match by term: Brainstem glioma | ClinVar Annotator: match by term: Glioma susceptibility 1
OMIM ClinVar
PMID:18772396 PMID:19657110 PMID:19798509 PMID:19818334 PMID:20946881 PMID:21352804 PMID:21446021 PMID:22160010 PMID:22397365 PMID:22417203 PMID:22898539 PMID:23558169 PMID:24606448 PMID:25043048 PMID:25157968 PMID:25741868 PMID:26619011 PMID:27993330 PMID:30231226 PMID:36201590 More...
NCBI chr10:94,021,002...94,039,997
Ensembl chr10:94,020,818...94,039,975
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IFNG
interferon gamma
ISO
RGD
PMID:10078962
RGD:727266
NCBI chr11:63,785,493...63,791,071
Ensembl chr11:63,786,041...63,790,473
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IGF1
insulin like growth factor 1
severity
ISO
protein:increased expression:serum:
RGD
PMID:21788435
RGD:8548833
NCBI chr11:97,624,498...97,708,730
Ensembl chr11:97,631,189...97,707,308
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IGF1R
insulin like growth factor 1 receptor
ISO
DNA: SNP: : rs2272037 or rs2016347
RGD
PMID:18562769
RGD:5686434
NCBI chr29:17,212,206...17,534,036
Ensembl chr29:17,459,404...17,526,930
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IGFBP3
insulin like growth factor binding protein 3
severity
ISO
protein:increased expression:serum:
RGD
PMID:21788435
RGD:8548833
NCBI chr21:12,905,309...12,914,199
Ensembl chr21:12,905,280...12,914,205
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IL10
interleukin 10
susceptibility
ISO
DNA:SNP: :rs1800896 (human)
RGD
PMID:20406895
RGD:4140470
NCBI chr25:22,590,389...22,595,877
Ensembl chr25:22,590,962...22,594,836
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IL12A
interleukin 12A
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:18176109
NCBI chr15:30,887,048...30,896,577
Ensembl chr15:30,887,897...30,894,550
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IL12B
interleukin 12B
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:18176109
NCBI chr23:61,714,293...61,731,835
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IL18
interleukin 18
treatment
ISO
RGD
PMID:18725309
RGD:8657054
NCBI chr 1:103,485,868...103,511,632
Ensembl chr 1:103,482,083...103,510,150
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IL2
interleukin 2
treatment
ISO
RGD
PMID:12864971
RGD:8663439
NCBI chr 7:69,729,635...69,736,279
Ensembl chr 7:69,730,282...69,734,969
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IL4
interleukin 4
treatment
ISO
RGD
PMID:9973213
RGD:8142389
NCBI chr23:35,492,158...35,501,349
Ensembl chr23:35,492,939...35,501,258
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IL7
interleukin 7
ISO
RGD
PMID:10078962
RGD:727266
NCBI chr 8:74,230,493...74,292,985
Ensembl chr 8:74,231,809...74,292,384
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ISG15
ISG15 ubiquitin like modifier
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:35506701
NCBI chr20:130,419,909...130,421,409
Ensembl chr20:130,419,782...130,421,380
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KAT6B
lysine acetyltransferase 6B
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
NCBI chr 9:56,340,579...56,525,809
Ensembl chr 9:56,340,026...56,536,512
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KCNK4
potassium two pore domain channel subfamily K member 4
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
NCBI chr 1:9,934,174...9,942,815
Ensembl chr 1:9,934,597...9,941,609
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KCNK7
potassium two pore domain channel subfamily K member 7
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
NCBI chr 1:8,644,038...8,648,132
Ensembl chr 1:8,645,231...8,647,963
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KDM5B
lysine demethylase 5B
disease_progression
ISO
RGD
PMID:25450384
RGD:13702126
NCBI chr25:26,599,740...26,685,256
Ensembl chr25:26,600,736...26,683,632
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KDR
kinase insert domain receptor
disease_progression severity
ISO
RGD
PMID:10506722 PMID:20501615
RGD:5684393 RGD:5684425
NCBI chr 7:13,435,059...13,482,236
Ensembl chr 7:13,435,096...13,482,771
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KLHL21
kelch like family member 21
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
NCBI chr20:125,142,580...125,156,153
Ensembl chr20:125,143,114...125,157,484
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KLLN
killin, p53 regulated DNA replication inhibitor
ISO
ClinVar Annotator: match by term: Glioma susceptibility 2 | ClinVar Annotator: match by term: Glioma susceptibility 3
ClinVar
PMID:25741868 PMID:26467025 PMID:27535533
NCBI chr 9:81,304,883...81,307,162
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KMT2D
lysine methyltransferase 2D
ISO
ClinVar Annotator: match by term: Astrocytoma
ClinVar
PMID:25741868
NCBI chr11:45,260,873...45,303,898
Ensembl chr11:45,263,408...45,302,423
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KRAS
KRAS proto-oncogene, GTPase
severity
ISO
RGD
PMID:19435821 PMID:22207524
RGD:13702477 RGD:13702860
NCBI chr11:24,963,396...25,010,747
Ensembl chr11:24,973,619...25,005,191
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KREMEN2
kringle containing transmembrane protein 2
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
NCBI chr 5:2,695,217...2,707,983
Ensembl chr 5:2,697,410...2,707,606
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LATS1
large tumor suppressor kinase 1
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
NCBI chr13:21,901,153...21,966,227
Ensembl chr13:21,919,280...21,967,117
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LETM1
leucine zipper and EF-hand containing transmembrane protein 1
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
NCBI chr27:46,912,882...46,954,295
Ensembl chr27:46,912,819...46,956,164
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LGALS3
galectin 3
disease_progression
ISO
RGD
PMID:23179497
RGD:9685225
NCBI chr24:32,311,343...32,328,335
Ensembl chr24:32,311,271...32,328,339
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LIG4
DNA ligase 4
ISO
DNA:SNP: :rs1805388 (human)
RGD
PMID:23663450
RGD:13204718
NCBI chr 3:86,576,200...86,587,097
Ensembl chr 3:86,577,304...86,580,039
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LOC103224275
glutathione S-transferase Mu 1
severity
ISO
RGD
PMID:10965818
RGD:5490163
NCBI chr20:23,854,969...23,861,634
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LOC103231004
histone H3.3A
ISO
ClinVar Annotator: match by term: Brainstem glioma
ClinVar
PMID:26619011
NCBI chr25:3,696,153...3,704,886
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LOC103231165
isocitrate dehydrogenase (NADP(+)) 2
ISO
ClinVar Annotator: match by term: Brainstem glioma | ClinVar Annotator: match by term: Glioma susceptibility 9
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...
NCBI chr29:8,633,429...8,650,744
Ensembl chr29:8,633,715...8,650,657
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LOC103231895
serine/threonine-protein kinase A-Raf
disease_progression
ISO
RGD
PMID:27852048
RGD:13702476
NCBI chr X:44,738,406...44,748,996
Ensembl chr X:44,740,181...44,748,550
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LOC103233227
ribosomal protein S6 kinase alpha-4
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
NCBI chr 1:9,860,403...9,874,440
Ensembl chr 1:9,860,290...9,874,374
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LOC103233475
cytochrome c oxidase subunit 8A, mitochondrial
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
NCBI chr 1:10,269,020...10,271,484
Ensembl chr 1:10,269,021...10,271,175
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LOC119626717
histone H3.1
ISO
ClinVar Annotator: match by term: Brainstem glioma
ClinVar
PMID:26619011
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LTA
lymphotoxin alpha
treatment
ISO
RGD
PMID:1883913
RGD:1625042
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LTBP3
latent transforming growth factor beta binding protein 3
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
NCBI chr 1:8,681,140...8,700,721
Ensembl chr 1:8,681,156...8,703,740
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LZTR1
leucine zipper like post translational regulator 1
ISO
ClinVar Annotator: match by term: Glioma susceptibility 9
ClinVar
PMID:25741868
NCBI chr19:4,917,381...4,935,174
Ensembl chr19:4,918,360...4,933,439
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MACROD1
mono-ADP ribosylhydrolase 1
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
NCBI chr 1:10,072,238...10,247,121
Ensembl chr 1:10,072,263...10,250,203
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MAJIN
membrane anchored junction protein
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
NCBI chr 1:9,260,903...9,295,888
Ensembl chr 1:9,275,234...9,295,590
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MAP2K1
mitogen-activated protein kinase kinase 1
ISO
RGD
PMID:21057530
RGD:13702863
NCBI chr26:17,059,122...17,168,787
Ensembl chr26:17,060,054...17,168,782
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MAP3K11
mitogen-activated protein kinase kinase kinase 11
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
NCBI chr 1:8,625,431...8,639,049
Ensembl chr 1:8,625,961...8,638,924
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MAP4K2
mitogen-activated protein kinase kinase kinase kinase 2
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
NCBI chr 1:9,437,953...9,449,539
Ensembl chr 1:9,437,962...9,451,818
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MAP4K3
mitogen-activated protein kinase kinase kinase kinase 3
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
NCBI chr14:67,931,906...68,121,640
Ensembl chr14:67,931,940...68,122,556
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MAPK3
mitogen-activated protein kinase 3
ISO
RGD
PMID:27256374
RGD:13702865
NCBI chr 5:26,536,471...26,545,666
Ensembl chr 5:26,536,532...26,546,461
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MARK2
microtubule affinity regulating kinase 2
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
NCBI chr 1:10,336,690...10,410,539
Ensembl chr 1:10,336,639...10,409,951
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MDK
midkine
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21233844
NCBI chr 1:18,945,355...18,948,394
Ensembl chr 1:18,946,378...18,947,134
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MEN1
menin 1
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
NCBI chr 1:9,423,885...9,431,123
Ensembl chr 1:9,423,917...9,431,104
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MET
MET proto-oncogene, receptor tyrosine kinase
ISO
protein:increased expression:brain, glioma (rat)
RGD
PMID:18194445
RGD:2317467
NCBI chr21:85,370,574...85,486,405
Ensembl chr21:85,397,645...85,488,093
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MGMT
O-6-methylguanine-DNA methyltransferase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16033832 PMID:16899598 PMID:19901110
NCBI chr 9:122,089,768...122,376,320
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MKI67
marker of proliferation Ki-67
ISO
RGD
PMID:22262719
RGD:6483547
NCBI chr 9:120,697,183...120,727,039
Ensembl chr 9:120,698,834...120,726,866
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MMP2
matrix metallopeptidase 2
treatment
ISO
RGD
PMID:19292920
RGD:8657080
NCBI chr 5:41,264,382...41,291,657
Ensembl chr 5:41,264,354...41,291,004
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MRPL49
mitochondrial ribosomal protein L49
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
NCBI chr 1:9,102,593...9,106,600
G
MSH2
mutS homolog 2
ISO
ClinVar Annotator: match by term: Ependymoma ClinVar Annotator: match by term: Ependymoma | ClinVar Annotator: match by term: Malignant glioma
ClinVar
PMID:11726306 PMID:15849733 PMID:16395668 PMID:17101317 PMID:25741868 PMID:28492532 PMID:28785832 PMID:33357406 PMID:34359559 More...
NCBI chr14:59,730,101...59,802,857
Ensembl chr14:59,729,789...59,802,819
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MTOR
mechanistic target of rapamycin kinase
severity
ISO
RGD
PMID:20878445
RGD:13702868
NCBI chr20:120,522,667...120,678,988
Ensembl chr20:120,525,737...120,679,020
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MYB
MYB proto-oncogene, transcription factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23583981 PMID:26829751
NCBI chr13:38,203,923...38,242,148
Ensembl chr13:38,203,731...38,241,864
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MYBL1
MYB proto-oncogene like 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23583981
NCBI chr 8:62,440,620...62,489,148
Ensembl chr 8:62,442,204...62,478,819
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MYLK
myosin light chain kinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:10232591
NCBI chr22:57,032,264...57,259,253
Ensembl chr22:57,065,331...57,257,464
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NAA40
N-alpha-acetyltransferase 40, NatD catalytic subunit
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
NCBI chr 1:10,289,015...10,307,909
Ensembl chr 1:10,288,266...10,307,932
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NAALADL1
N-acetylated alpha-linked acidic dipeptidase like 1
ISO
ClinVar Annotator: match by term: Glioma susceptibility 9
ClinVar
NCBI chr 1:9,175,615...9,189,586
Ensembl chr 1:9,175,499...9,193,142
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NADSYN1
NAD synthetase 1
susceptibility
ISO
RGD
PMID:22740028
RGD:13703114
NCBI chr 1:3,189,054...3,243,087
Ensembl chr 1:3,188,348...3,238,435
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NBN
nibrin
ISO
ClinVar Annotator: match by term: Pediatric high-grade glioma
ClinVar
PMID:11325820 PMID:14559852 PMID:15338273 PMID:16474176 PMID:16810201 PMID:17695489 PMID:17894553 PMID:17899368 PMID:18049891 PMID:18280732 PMID:19393249 PMID:19452044 PMID:19523210 PMID:19813148 PMID:19908051 PMID:21212067 PMID:21698754 PMID:22131123 PMID:22373003 PMID:23317186 PMID:23555315 PMID:24093751 PMID:24113799 PMID:24728327 PMID:24830725 PMID:25619955 PMID:25712764 PMID:25741868 PMID:26083025 PMID:26315354 PMID:26467025 PMID:26722329 PMID:27153395 PMID:27616075 PMID:27621404 PMID:28076423 PMID:28261280 PMID:28376765 PMID:28492532 PMID:28591191 PMID:29335925 PMID:29678143 PMID:29785153 PMID:30287823 PMID:30441849 PMID:30590007 PMID:30651582 PMID:31159747 PMID:32566746 PMID:34284872 PMID:35264596 More...
NCBI chr 8:85,017,807...85,069,219
Ensembl chr 8:85,015,752...85,069,028
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NDRG4
NDRG family member 4
disease_progression
ISO
protein:decreased expression:brain
RGD
PMID:22399192
RGD:7247727
NCBI chr 5:44,402,021...44,452,829
Ensembl chr 5:44,402,453...44,455,245
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NET1
neuroepithelial cell transforming 1
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
NCBI chr 9:5,547,275...5,579,006
Ensembl chr 9:5,567,225...5,577,539
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NF1
neurofibromin 1
disease_progression
ISO
DNA:mutations: : CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:25119042 PMID:26190195
RGD:12789702
NCBI chr16:24,550,983...24,836,311
Ensembl chr16:24,550,977...24,836,307
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NF2
NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
NCBI chr19:12,474,479...12,572,144
Ensembl chr19:12,474,468...12,572,250
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NOS3
nitric oxide synthase 3
ISO
protein:increased expression:blood vessel endothelial cell
RGD
PMID:14672505
RGD:2292080
NCBI chr21:119,174,829...119,196,840
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NRXN2
neurexin 2
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
NCBI chr 1:9,522,501...9,629,799
Ensembl chr 1:9,522,778...9,629,828
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NTRK1
neurotrophic receptor tyrosine kinase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24705251
NCBI chr20:6,987,903...7,027,381
Ensembl chr20:6,987,905...7,008,670
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NTRK2
neurotrophic receptor tyrosine kinase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24705251
NCBI chr12:95,477,612...95,836,734
Ensembl chr12:95,479,447...95,620,364
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NTRK3
neurotrophic receptor tyrosine kinase 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24705251
NCBI chr29:6,441,824...6,831,029
Ensembl chr29:6,447,256...6,830,526
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NUDT22
nudix hydrolase 22
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
NCBI chr 1:10,006,096...10,009,529
Ensembl chr 1:10,006,122...10,009,514
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OTUB1
OTU deubiquitinase, ubiquitin aldehyde binding 1
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
NCBI chr 1:10,247,260...10,271,026
G
OTUD5
OTU deubiquitinase 5
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
NCBI chr X:46,041,348...46,077,195
G
PATZ1
POZ/BTB and AT hook containing zinc finger 1
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
NCBI chr19:14,217,010...14,237,717
Ensembl chr19:14,215,918...14,237,579
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PCMT1
protein-L-isoaspartate (D-aspartate) O-methyltransferase
ISO
mRNA:decreased expression:brain:
RGD
PMID:15857672
RGD:10448283
NCBI chr13:21,808,583...21,867,309
Ensembl chr13:21,807,710...21,866,768
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PCNX3
pecanex 3
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
NCBI chr 1:8,601,944...8,625,289
Ensembl chr 1:8,601,805...8,624,394
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PDAP1
PDGFA associated protein 1
severity
ISO
RGD
PMID:27448842
RGD:13702895
NCBI chr28:13,751,019...13,763,392
Ensembl chr28:13,751,064...13,766,219
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PDGFA
platelet derived growth factor subunit A
ISO
in a mouse model
RGD
PMID:21490965
RGD:13702894
NCBI chr28:21,044,549...21,068,411
Ensembl chr28:21,047,219...21,069,827
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PDGFB
platelet derived growth factor subunit B
severity
ISO
RGD
PMID:21677873 PMID:26945107 PMID:27448842
RGD:13702895 RGD:13702896 RGD:13702897
NCBI chr19:21,865,792...21,888,068
Ensembl chr19:21,863,768...21,886,395
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PHLDB1
pleckstrin homology like domain family B member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19578367
NCBI chr 1:110,001,516...110,053,166
Ensembl chr 1:110,002,591...110,052,831
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PIK3CA
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha
ISO
ClinVar Annotator: match by term: Brainstem glioma ClinVar Annotator: match by term: Brainstem glioma | ClinVar Annotator: match by term: Ependymoma | ClinVar Annotator: match by term: Glioma susceptibility 9
ClinVar
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 More...
NCBI chr15:10,218,034...10,304,874
Ensembl chr15:10,218,805...10,294,316
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PIK3R3
phosphoinositide-3-kinase regulatory subunit 3
treatment
ISO
RGD
PMID:28260020
RGD:13782053
NCBI chr20:86,651,692...86,748,670
Ensembl chr20:86,651,520...86,745,116
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PLAU
plasminogen activator, urokinase
severity
ISO
protein:increased expression:brain (human)
RGD
PMID:7604873
RGD:7241260
NCBI chr 9:57,452,904...57,459,345
Ensembl chr 9:57,452,761...57,459,286
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PLCB3
phospholipase C beta 3
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
NCBI chr 1:9,964,850...9,982,573
Ensembl chr 1:9,966,618...9,982,317
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PLK1
polo like kinase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22000864
NCBI chr 5:21,388,957...21,408,574
Ensembl chr 5:21,396,204...21,410,718
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POLA2
DNA polymerase alpha 2, accessory subunit
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
NCBI chr 1:8,940,102...8,977,049
Ensembl chr 1:8,938,769...8,976,771
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POLE
DNA polymerase epsilon, catalytic subunit
ISO
ClinVar Annotator: match by term: Pediatric high-grade glioma
ClinVar
PMID:25741868 PMID:26467025 PMID:28492532 PMID:30093976 PMID:31265121 PMID:31970404 PMID:32522261 PMID:32792570 More...
NCBI chr11:127,966,879...128,030,442
Ensembl chr11:127,965,896...128,030,292
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POT1
protection of telomeres 1
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 3 | 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...
NCBI chr21:93,572,139...93,688,374
Ensembl chr21:93,571,272...93,655,869
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POU3F4
POU class 3 homeobox 4
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
NCBI chr X:72,379,656...72,381,186
Ensembl chr X:72,379,979...72,381,064
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POU5F1
POU class 5 homeobox 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:35506701
NCBI chr17:41,306,523...41,313,065
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PPARG
peroxisome proliferator activated receptor gamma
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...
NCBI chr22:48,262,743...48,407,415
Ensembl chr22:48,275,600...48,407,418
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PPM1D
protein phosphatase, Mg2+/Mn2+ dependent 1D
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24880341
NCBI chr16:31,833,145...31,900,962
Ensembl chr16:31,833,160...31,900,963
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PPP1R14B
protein phosphatase 1 regulatory inhibitor subunit 14B
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
NCBI chr 1:9,989,540...9,991,940
Ensembl chr 1:9,989,030...9,992,088
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PPP2R5B
protein phosphatase 2 regulatory subunit B'beta
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
NCBI chr 1:9,299,609...9,309,357
Ensembl chr 1:9,299,160...9,309,335
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PRDX5
peroxiredoxin 5
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
NCBI chr 1:9,912,947...9,917,439
Ensembl chr 1:9,912,898...9,917,361
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PRKCA
protein kinase C alpha
ISO
DNA:gene fusion: :
RGD
PMID:26671581
RGD:11087038
NCBI chr16:54,638,548...55,144,372
Ensembl chr16:54,642,729...54,948,256
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PSD3
pleckstrin and Sec7 domain containing 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16865689
NCBI chr 8:16,623,640...17,171,820
Ensembl chr 8:16,628,787...17,098,824
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PTEN
phosphatase and tensin homolog
ISO
ClinVar Annotator: match by term: Brainstem glioma | ClinVar Annotator: match by term: Glioma susceptibility 2 ClinVar Annotator: match by term: Brainstem glioma | 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 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 OMIM
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:11071384 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:12938083 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:17873119 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:23825907 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:26229595 PMID:26246517 PMID:26350204 PMID:26376867 PMID:26418532 PMID:26467025 PMID:26504226 PMID:26579216 PMID:26580448 PMID:26633542 PMID:26681312 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 More...
NCBI chr 9:81,308,058...81,412,386
Ensembl chr 9:81,309,099...81,409,146
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PTGS2
prostaglandin-endoperoxide synthase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15561105
NCBI chr25:42,733,535...42,742,463
Ensembl chr25:42,734,771...42,742,429
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PTPN11
protein tyrosine phosphatase non-receptor type 11
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...
NCBI chr11:107,658,495...107,754,457
Ensembl chr11:107,658,453...107,752,637
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PYGM
glycogen phosphorylase, muscle associated
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
NCBI chr 1:9,474,539...9,490,612
Ensembl chr 1:9,475,622...9,491,500
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QKI
QKI, KH domain containing RNA binding
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26829751
NCBI chr13:91,045,167...91,206,190
Ensembl chr13:91,045,209...91,208,471
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RAF1
Raf-1 proto-oncogene, serine/threonine kinase
ISO
ClinVar Annotator: match by term: Glioma
ClinVar
NCBI chr22:48,560,270...48,643,537
Ensembl chr22:48,561,161...48,618,020
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RASGRP2
RAS guanyl releasing protein 2
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
NCBI chr 1:9,483,557...9,508,920
Ensembl chr 1:9,492,624...9,508,912
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RCOR2
REST corepressor 2
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
NCBI chr 1:10,330,137...10,336,485
Ensembl chr 1:10,330,387...10,336,469
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RELA
RELA proto-oncogene, NF-kB subunit
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
NCBI chr 1:8,576,059...8,585,561
Ensembl chr 1:8,576,542...8,586,516
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RET
ret proto-oncogene
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
PMID:25741868
NCBI chr 9:38,746,088...38,798,773
Ensembl chr 9:38,769,170...38,796,712
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RNF43
ring finger protein 43
exacerbates
ISO
protein:decreased expression:brain, brainstem (human)
RGD
PMID:25755738
RGD:151361124
NCBI chr16:34,981,126...35,046,478
Ensembl chr16:34,980,922...35,045,107
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ROS1
ROS proto-oncogene 1, receptor tyrosine kinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19276365
NCBI chr13:56,412,451...56,561,382
Ensembl chr13:56,413,298...56,562,503
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RTEL1
regulator of telomere elongation helicase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19578366 PMID:19578367
NCBI chr 2:531,905...567,430
Ensembl chr 2:531,085...566,840
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SAC3D1
SAC3 domain containing 1
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
NCBI chr 1:9,189,576...9,193,737
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SCYL1
SCY1 like pseudokinase 1
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
NCBI chr 1:8,700,828...8,714,571
Ensembl chr 1:8,700,973...8,714,763
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SERPINE1
serpin family E member 1
ISO
protein:increased expression:plasma
RGD
PMID:14977830
RGD:13208546
NCBI chr28:12,047,520...12,060,662
Ensembl chr28:12,047,529...12,060,202
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SETD9
SET domain containing 9
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
NCBI chr 4:53,133,733...53,141,985
Ensembl chr 4:53,134,117...53,141,965
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SETDB1
SET domain bifurcated histone lysine methyltransferase 1
severity
ISO
protein:increased expression:brain, cell nucleus (human)
RGD
PMID:23943221
RGD:9590166
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SF1
splicing factor 1
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
NCBI chr 1:9,456,524...9,470,920
Ensembl chr 1:9,456,971...9,472,396
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SH3GL1
SH3 domain containing GRB2 like 1, endophilin A2
severity disease_progression
ISO
protein:increased expression:cytoplasm,white matter:
RGD
PMID:23050879
RGD:13463483
NCBI chr 6:4,090,800...4,130,566
Ensembl chr 6:4,091,359...4,130,578
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SH3TC2
SH3 domain and tetratricopeptide repeats 2
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
NCBI chr23:51,615,754...51,677,650
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SIPA1
signal-induced proliferation-associated 1
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
NCBI chr 1:8,588,221...8,601,310
Ensembl chr 1:8,586,685...8,598,455
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SIRT2
sirtuin 2
treatment
ISO
RGD
PMID:23522375
RGD:9586035
NCBI chr 6:33,493,106...33,518,793
Ensembl chr 6:33,493,079...33,518,647
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SLC22A11
solute carrier family 22 member 11
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
NCBI chr 1:9,664,015...9,680,559
Ensembl chr 1:9,662,327...9,679,813
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SLC22A12
solute carrier family 22 member 12
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
NCBI chr 1:9,633,589...9,644,519
Ensembl chr 1:9,632,645...9,643,664
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SLC25A45
solute carrier family 25 member 45
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
NCBI chr 1:8,857,346...8,865,517
Ensembl chr 1:8,856,977...8,865,358
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SLC39A11
solute carrier family 39 member 11
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
NCBI chr16:48,440,063...48,999,755
Ensembl chr16:48,440,108...49,000,037
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SLC44A1
solute carrier family 44 member 1
ISO
DNA:gene fusion: :
RGD
PMID:26671581
RGD:11087038
NCBI chr12:34,068,642...34,261,635
Ensembl chr12:34,067,318...34,261,402
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SLC5A5
solute carrier family 5 member 5
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:12489024
NCBI chr 6:16,346,361...16,367,833
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SLC6A3
solute carrier family 6 member 3
ISO
protein:decreased expression
RGD
PMID:14698456
RGD:1625668
NCBI chr 4:1,209,013...1,258,797
Ensembl chr 4:1,209,019...1,258,866
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SLC7A5
solute carrier family 7 member 5
ameliorates
ISO
RGD
PMID:16496379
RGD:151361115
NCBI chr 5:73,229,953...73,269,801
Ensembl chr 5:73,229,951...73,269,754
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SNX15
sorting nexin 15
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
NCBI chr 1:9,193,821...9,206,079
Ensembl chr 1:9,193,646...9,206,045
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SOD1
superoxide dismutase 1
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:11861405
NCBI chr 2:60,461,219...60,472,999
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SOX6
SRY-box transcription factor 6
ISO
RGD
PMID:15696967
RGD:1580007
NCBI chr 1:48,206,243...48,955,819
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SPDYC
speedy/RINGO cell cycle regulator family member C
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
NCBI chr 1:9,057,110...9,093,558
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SPHK1
sphingosine kinase 1
ISO
protein:increased expression:endothelial cell (rat)
RGD
PMID:17316399
RGD:2311379
NCBI chr16:45,290,147...45,295,175
Ensembl chr16:45,290,421...45,293,128
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SPINDOC
spindlin interactor and repressor of chromatin binding
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
NCBI chr 1:10,422,142...10,437,460
Ensembl chr 1:10,428,432...10,437,287
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SPP1
secreted phosphoprotein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:16651633
RGD:1581321
NCBI chr 7:36,337,165...36,344,927
Ensembl chr 7:36,338,386...36,344,407
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SPRY3
sprouty RTK signaling antagonist 3
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
NCBI chr X:129,727,879...129,840,393
Ensembl chr X:129,838,996...129,839,862
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ST6GAL1
ST6 beta-galactoside alpha-2,6-sialyltransferase 1
treatment
ISO
RGD
PMID:11559557
RGD:10043143
NCBI chr15:81,205,121...81,346,089
Ensembl chr15:81,239,631...81,349,173
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STIP1
stress induced phosphoprotein 1
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
NCBI chr 1:10,033,317...10,052,406
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STMN1
stathmin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17440165
NCBI chr20:106,866,719...106,873,314
Ensembl chr20:106,868,838...106,874,403
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SUV39H1
SUV39H1 histone lysine methyltransferase
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
NCBI chr X:45,820,114...45,834,727
Ensembl chr X:45,822,453...45,834,917
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SUZ12
SUZ12 polycomb repressive complex 2 subunit
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25119042
NCBI chr16:25,413,928...25,474,311
Ensembl chr16:25,413,954...25,476,479
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SYNE1
spectrin repeat containing nuclear envelope protein 1
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
NCBI chr13:79,572,233...80,104,951
Ensembl chr13:79,572,936...79,988,893
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SYVN1
synoviolin 1
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
NCBI chr 1:9,093,657...9,101,245
Ensembl chr 1:9,094,592...9,100,213
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TASOR
transcription activation suppressor
ISO
ClinVar Annotator: match by term: Brainstem glioma
ClinVar
NCBI chr22:17,957,264...18,020,887
Ensembl chr22:17,960,845...18,020,653
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TERT
telomerase reverse transcriptase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18021753 PMID:19578367
NCBI chr 4:1,082,894...1,119,373
Ensembl chr 4:1,083,384...1,117,468
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TFRC
transferrin receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16904380
NCBI chr15:91,102,153...91,134,994
Ensembl chr15:91,102,817...91,135,584
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TIGD3
tigger transposable element derived 3
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
NCBI chr 1:8,883,893...8,886,685
Ensembl chr 1:8,884,276...8,885,691
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TM7SF2
transmembrane 7 superfamily member 2
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
NCBI chr 1:9,112,528...9,117,201
Ensembl chr 1:9,112,710...9,116,898
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TNC
tenascin C
ISO
protein:increased expression:brain
RGD
PMID:16928692
RGD:4889612
NCBI chr12:24,457,616...24,556,194
Ensembl chr12:24,457,738...24,556,451
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TNF
tumor necrosis factor
treatment
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:11810046 PMID:22199285
RGD:10450725
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TNFSF10
TNF superfamily member 10
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:16820965 PMID:19229339
NCBI chr15:16,934,982...16,953,155
Ensembl chr15:16,934,962...16,954,860
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TOP2A
DNA topoisomerase II alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18402387
NCBI chr16:65,761,391...65,792,041
Ensembl chr16:65,761,416...65,792,701
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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: Glioma susceptibility 9 | ClinVar Annotator: match by term: Malignant glioma 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
ClinVar OMIM
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:8198984 PMID:8203469 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:9865903 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:10811497 PMID:10864200 PMID:10871862 PMID:10922393 PMID:11040944 PMID:11051239 PMID:11101847 PMID:11139324 PMID:11180592 PMID:11358831 PMID:11370630 PMID:11391594 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:16964264 PMID:16969106 PMID:17015838 PMID:17224268 PMID:17289876 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:17727479 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:19714488 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:21512767 PMID:21514416 PMID:21519010 PMID:21535297 PMID:21552135 PMID:21601526 PMID:21619694 PMID:21665182 PMID:21672450 PMID:21674059 PMID:21747090 PMID:21761402 PMID:22006311 PMID:22052707 PMID:22109999 PMID:22110706 PMID:22114072 PMID:22170717 PMID:22186996 PMID:22233476 PMID:22265402 PMID:22354696 PMID:22484423 PMID:22652532 PMID:22672556 PMID:22698404 PMID:22703879 PMID:22710932 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:23403321 PMID:23406775 PMID:23484829 PMID:23538418 PMID:23624782 PMID:23630318 PMID:23667202 PMID:23792586 PMID:23887774 PMID:23894400 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:24663046 PMID:24665023 PMID:24677579 PMID:24702488 PMID:24728327 PMID:24729566 PMID:24744791 PMID:24810334 PMID:24835218 PMID:24868540 PMID:25059482 PMID:25119136 PMID:25123297 PMID:25157968 PMID:25256166 PMID:25326637 PMID:25339994 PMID:25404506 PMID:25460562 PMID:25503501 PMID:25516983 PMID:25525159 PMID:25527155 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:26086041 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:27242894 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:27930734 PMID:27959731 PMID:27993330 PMID:28125078 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:29769598 PMID:29875428 PMID:29945567 PMID:29979965 PMID:30076369 PMID:30107858 PMID:30128536 PMID:30216591 PMID:30224644 PMID:30287823 PMID:30297838 PMID:30311369 PMID:30327374 PMID:30352134 PMID:30374176 PMID:30630526 PMID:30709381 PMID:30720243 PMID:30730202 PMID:30816478 PMID:30840781 PMID:30883245 PMID:31016814 PMID:31105275 PMID:31119730 PMID:31127191 PMID:31159747 PMID:31206626 PMID:31296311 PMID:31300551 PMID:31321604 PMID:31742824 PMID:31748977 PMID:31749828 PMID:31775759 PMID:31786208 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:34676052 PMID:34709361 PMID:34863587 PMID:35043155 PMID:35047863 PMID:35802772 PMID:35820297 PMID:35938033 PMID:35974385 PMID:36008825 PMID:36309086 PMID:36329109 PMID:36980780 PMID:36988593 More...
NCBI chr16:7,047,686...7,065,567
Ensembl chr16:7,045,146...7,066,223
G
TRAF3
TNF receptor associated factor 3
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
NCBI chr24:80,735,234...80,872,104
Ensembl chr24:80,789,699...80,866,480
G
TRIM29
tripartite motif containing 29
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30929997
NCBI chr 1:111,508,422...111,536,946
Ensembl chr 1:111,508,296...111,536,413
G
TRMT112
tRNA methyltransferase activator subunit 11-2
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
NCBI chr 1:9,916,884...9,918,790
G
TRPM1
transient receptor potential cation channel subfamily M member 1
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
NCBI chr26:51,560,992...51,660,857
Ensembl chr26:51,586,041...51,660,171
G
TRPT1
tRNA phosphotransferase 1
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
NCBI chr 1:10,009,559...10,012,005
Ensembl chr 1:10,009,706...10,011,958
G
TRPV4
transient receptor potential cation channel subfamily V member 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:33629929
NCBI chr11:105,020,972...105,072,660
G
TSC1
TSC complex subunit 1
ISO
ClinVar Annotator: match by term: Astrocytoma
ClinVar
PMID:25741868
NCBI chr12:5,195,604...5,249,042
Ensembl chr12:5,195,675...5,244,157
G
TXNRD2
thioredoxin reductase 2
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
NCBI chr19:5,803,178...5,868,224
Ensembl chr19:5,813,099...5,866,674
G
VBP1
VHL binding protein 1
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
NCBI chr X:129,487,543...129,510,301
G
VEGFB
vascular endothelial growth factor B
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
NCBI chr 1:9,997,820...10,001,518
Ensembl chr 1:9,997,665...10,001,429
G
VPS51
VPS51 subunit of GARP complex
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
NCBI chr 1:9,117,080...9,142,070
Ensembl chr 1:9,116,723...9,142,031
G
XAF1
XIAP associated factor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28122345
NCBI chr16:6,117,228...6,135,535
Ensembl chr16:6,118,094...6,134,902
G
XBP1
X-box binding protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21138464
NCBI chr19:11,670,605...11,677,168
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:23534771 PMID:25227852
RGD:401850601
NCBI chr 6:37,062,149...37,095,138
Ensembl chr 6:37,060,439...37,095,094
G
XRCC3
X-ray repair cross complementing 3
susceptibility
ISO
DNA:SNP:cd: p.T241M (rs861539) (Human)
RGD
PMID:23534771
RGD:401850601
NCBI chr24:81,627,911...81,641,598
Ensembl chr24:81,630,099...81,641,218
G
YEATS4
YEATS domain containing 4
ISO
RGD
PMID:11521196
RGD:1598696
NCBI chr11:64,989,143...65,017,837
Ensembl chr11:64,989,152...65,017,938
G
ZFPL1
zinc finger protein like 1
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
NCBI chr 1:9,147,190...9,151,350
Ensembl chr 1:9,146,129...9,151,440
G
ZFTA
zinc finger translocation associated
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
NCBI chr 1:10,477,832...10,484,860
Ensembl chr 1:10,477,938...10,483,159
G
ZNHIT2
zinc finger HIT-type containing 2
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
NCBI chr 1:9,110,533...9,112,359
Ensembl chr 1:9,111,106...9,112,320
G
ZNRD2
zinc ribbon domain containing 2
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
NCBI chr 1:8,669,227...8,670,594
Ensembl chr 1:8,666,769...8,670,527
G
MMP1
matrix metallopeptidase 1
susceptibility
ISO
DNA:insertion:promoter:g.-1607insG (human)
RGD
PMID:17502998
RGD:7207034
NCBI chr 1:94,167,507...94,177,357
Ensembl chr 1:94,167,219...94,176,767
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CHD6
chromodomain helicase DNA binding protein 6
ISO
ClinVar Annotator: match by term: Adult spinal cord ependymoma
ClinVar
NCBI chr 2:22,163,836...22,373,098
Ensembl chr 2:22,223,919...22,373,275
G
ATRX
ATRX chromatin remodeler
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...
NCBI chr X:66,449,830...66,737,220
Ensembl chr X:66,448,449...66,737,164
G
KRAS
KRAS proto-oncogene, GTPase
ISO
mRNA:decreased expression:brain
RGD
PMID:19179066
RGD:13702872
NCBI chr11:24,963,396...25,010,747
Ensembl chr11:24,973,619...25,005,191
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TP53
tumor protein p53
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...
NCBI chr16:7,047,686...7,065,567
Ensembl chr16:7,045,146...7,066,223
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PALB2
partner and localizer of BRCA2
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...
NCBI chr 5:21,322,952...21,358,363
Ensembl chr 5:21,322,975...21,358,198
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RNF213
ring finger protein 213
ISO
ClinVar Annotator: match by term: Anaplastic ependymoma
ClinVar
PMID:26822237
NCBI chr16:72,241,519...72,370,710
Ensembl chr16:72,244,245...72,369,859
G
CIC
capicua transcriptional repressor
ISO
ClinVar Annotator: match by term: Anaplastic oligodendroglioma
ClinVar
NCBI chr 6:36,472,991...36,500,479
G
PIK3R1
phosphoinositide-3-kinase regulatory subunit 1
severity
ISO
RGD
PMID:26286747 PMID:26956052
RGD:11343921 RGD:13782052
NCBI chr 4:64,321,296...64,406,188
Ensembl chr 4:64,321,078...64,406,519
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POLE
DNA polymerase epsilon, catalytic subunit
ISO
ClinVar Annotator: match by term: Neuroepithelial neoplasm
ClinVar
PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29987844
NCBI chr11:127,966,879...128,030,442
Ensembl chr11:127,965,896...128,030,292
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ATM
ATM serine/threonine kinase
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...
NCBI chr 1:99,653,208...99,786,889
Ensembl chr 1:99,653,139...99,791,520
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CUNH11orf65
chromosome unknown C11orf65 homolog
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...
NCBI chr 1:99,804,191...99,879,834
Ensembl chr 1:99,804,218...99,827,182
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TSC2
TSC complex subunit 2
ISO
ClinVar Annotator: match by term: Astroblastoma, MN1-altered
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 5:1,946,534...1,985,168
Ensembl chr 5:1,946,927...1,987,682
G
EEF2
eukaryotic translation elongation factor 2
ISO
protein:increased expression:brain (human)
RGD
PMID:24589652
RGD:153297816
NCBI chr 6:3,733,056...3,742,526
Ensembl chr 6:3,732,425...3,742,826
G
NCAM1
neural cell adhesion molecule 1
disease_progression
ISO
RGD
PMID:20219118
RGD:40924672
NCBI chr 1:104,332,622...104,647,258
G
SUFU
SUFU negative regulator of hedgehog signaling
ISO
human, rat, and/or mouse glioma cells in a mouse model
RGD
PMID:30790292
RGD:150573813
NCBI chr 9:95,532,228...95,660,594
Ensembl chr 9:95,532,242...95,657,290
G
BAX
BCL2 associated X, apoptosis regulator
treatment
ISO
RGD
PMID:27255231 PMID:29324390
RGD:13792502 RGD:13792598
NCBI chr 6:42,186,028...42,193,105
G
BCL2
BCL2 apoptosis regulator
treatment
ISO
RGD
PMID:27255231 PMID:29324390
RGD:13792502 RGD:13792598
NCBI chr18:16,440,560...16,643,187
Ensembl chr18:16,441,733...16,637,895
G
BIRC3
baculoviral IAP repeat containing 3
exacerbates
ISO
mRNA:increased expression:brain (human)
RGD
PMID:31964418
RGD:153344516
NCBI chr 1:93,692,239...93,711,905
G
BIRC5
baculoviral IAP repeat containing 5
exacerbates
ISO
mRNA:increased expression:brain (human)
RGD
PMID:31964418
RGD:153344516
NCBI chr16:70,226,824...70,237,000
G
BST2
bone marrow stromal cell antigen 2
ISO
mRNA,protein:increased expression:brain:
RGD
PMID:21565182
RGD:14398497
NCBI chr 6:15,900,396...15,903,072
Ensembl chr 6:15,900,011...15,903,060
G
CASP3
caspase 3
treatment
ISO
RGD
PMID:29324390
RGD:13792598
NCBI chr 7:130,589,592...130,610,845
Ensembl chr 7:130,591,166...130,610,899
G
FADD
Fas associated via death domain
treatment
ISO
RGD
PMID:27255231
RGD:13792502
NCBI chr 1:4,358,314...4,361,863
G
FASLG
Fas ligand
treatment
ISO
RGD
PMID:29324390
RGD:13792598
NCBI chr25:56,488,572...56,496,469
Ensembl chr25:56,489,417...56,496,251
G
FOXA1
forkhead box A1
disease_progression
ISO
RGD
PMID:23510544
RGD:151665742
NCBI chr24:14,397,759...14,403,078
Ensembl chr24:14,396,702...14,403,094
G
GAPDH
glyceraldehyde-3-phosphate dehydrogenase
ISO
RGD
PMID:26032618
RGD:13792685
NCBI chr11:6,569,029...6,572,877
G
KDR
kinase insert domain receptor
ISO
protein:increased expression:brain (human)
RGD
PMID:33900414
RGD:151660356
NCBI chr 7:13,435,059...13,482,236
Ensembl chr 7:13,435,096...13,482,771
G
NAIP
NLR family apoptosis inhibitory protein
exacerbates
ISO
mRNA:increased expression:brain (human)
RGD
PMID:31964418
RGD:153344516
NCBI chr 4:65,693,044...65,742,527
G
PTPRB
protein tyrosine phosphatase receptor type B
ISO
protein:increased expression:brain (human) human cell in mouse model
RGD
PMID:16923162 PMID:33900414
RGD:151660356 RGD:151660368
NCBI chr11:66,095,445...66,222,402
Ensembl chr11:66,101,038...66,221,982
G
VEGFA
vascular endothelial growth factor A
ISO
protein:increased expression:brain (human)
RGD
PMID:33900414
RGD:151660356
NCBI chr17:28,377,959...28,394,508
G
XRCC1
X-ray repair cross complementing 1
susceptibility
ISO
DNA:SNP:exon 10: p.R399Q (human)
RGD
PMID:18330515
RGD:401827274
NCBI chr 6:37,062,149...37,095,138
Ensembl chr 6:37,060,439...37,095,094
G
XRCC3
X-ray repair cross complementing 3
susceptibility
ISO
DNA:SNP:exon 8: p.T241M (rs861539) (Human)
RGD
PMID:18330515
RGD:401827274
NCBI chr24:81,627,911...81,641,598
Ensembl chr24:81,630,099...81,641,218
G
PAX3
paired box 3
ISO
mRNA,protein:increased expression:brain stem:
RGD
PMID:25330836
RGD:13702891
NCBI chr10:108,125,198...108,225,217
Ensembl chr10:108,125,747...108,224,478
G
PDGFRA
platelet derived growth factor receptor alpha
severity
ISO
RGD
PMID:20197468
RGD:13702892
NCBI chr 7:14,243,291...14,307,373
Ensembl chr 7:14,241,070...14,307,422
G
MSH6
mutS homolog 6
ISO
ClinVar Annotator: match by term: Cerebellar medulloblastoma
ClinVar
NCBI chr14:59,375,602...59,400,252
Ensembl chr14:59,375,691...59,400,174
G
RTEL1
regulator of telomere elongation helicase 1
ameliorates susceptibility
ISO
DNA:SNP:cds:rs6089953|rs6010620|rs2297440 (human) DNA:SNP:cds:rs4809324 (human)
RGD
PMID:26014354
RGD:152985535
NCBI chr 2:531,905...567,430
Ensembl chr 2:531,085...566,840
G
MAPK1
mitogen-activated protein kinase 1
ISO
protein:increased expression:brain:
RGD
PMID:21466243
RGD:13702864
NCBI chr19:4,246,144...4,352,648
Ensembl chr19:4,246,122...4,353,325
G
PRKCA
protein kinase C alpha
ISO
DNA:mutation:cds:c.1387G>C,p.D463H(human)
RGD
PMID:29476136
RGD:13782058
NCBI chr16:54,638,548...55,144,372
Ensembl chr16:54,642,729...54,948,256
G
ACOD1
aconitate decarboxylase 1
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr 3:56,037,628...56,048,509
Ensembl chr 3:56,042,149...56,047,680
G
ALG11
ALG11 alpha-1,2-mannosyltransferase
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr 3:29,899,345...29,920,805
Ensembl chr 3:29,899,441...29,915,860
G
ARL11
ARF like GTPase 11
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr 3:27,544,990...27,550,306
Ensembl chr 3:27,547,359...27,547,949
G
ATP7B
ATPase copper transporting beta
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr 3:29,817,712...29,899,302
Ensembl chr 3:29,816,860...29,899,077
G
BORA
BORA aurora kinase A activator
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr 3:51,860,304...51,888,410
Ensembl chr 3:51,860,405...51,887,416
G
CAB39L
calcium binding protein 39 like
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr 3:27,226,012...27,314,413
Ensembl chr 3:27,225,946...27,314,318
G
CCDC70
coiled-coil domain containing 70
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr 3:29,745,345...29,749,711
Ensembl chr 3:29,748,861...29,749,559
G
CDADC1
cytidine and dCMP deaminase domain containing 1
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr 3:27,165,870...27,212,179
Ensembl chr 3:27,177,026...27,212,171
G
CKAP2
cytoskeleton associated protein 2
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr 3:30,086,068...30,107,491
Ensembl chr 3:30,086,073...30,107,463
G
CLN5
CLN5 intracellular trafficking protein
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr 3:56,074,701...56,086,433
Ensembl chr 3:56,076,226...56,086,963
G
CNMD
chondromodulin
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr 3:30,465,771...30,502,358
Ensembl chr 3:30,466,087...30,501,550
G
COMMD6
COMM domain containing 6
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr 3:54,625,390...54,636,201
Ensembl chr 3:54,623,834...54,636,262
G
CUNH13orf42
chromosome unknown C13orf42 homolog
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr 3:28,960,806...28,991,668
G
CYSLTR2
cysteinyl leukotriene receptor 2
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr 3:26,578,248...26,624,364
G
DACH1
dachshund family transcription factor 1
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr 3:50,591,136...51,020,042
G
DHRS12
dehydrogenase/reductase 12
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr 3:29,648,522...29,683,177
G
DIAPH3
diaphanous related formin 3
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr 3:37,455,326...37,951,237
G
DIS3
DIS3 homolog, exosome endoribonuclease and 3'-5' exoribonuclease
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr 3:51,890,033...51,916,628
Ensembl chr 3:51,888,707...51,916,643
G
DLEU7
deleted in lymphocytic leukemia 7
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr 3:28,606,670...28,731,551
Ensembl chr 3:28,710,019...28,731,258
G
EBPL
EBP like
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr 3:27,576,087...27,606,770
Ensembl chr 3:27,576,329...27,606,684
G
EDNRB
endothelin receptor type B
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr 3:56,969,493...56,993,719
Ensembl chr 3:56,969,101...56,992,731
G
FAM124A
family with sequence similarity 124 member A
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr 3:29,107,009...29,168,154
G
FBXL3
F-box and leucine rich repeat protein 3
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr 3:56,089,147...56,111,472
Ensembl chr 3:56,088,938...56,105,977
G
FNDC3A
fibronectin type III domain containing 3A
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr 3:26,902,353...27,121,248
Ensembl chr 3:26,902,353...27,121,008
G
HNRNPA1L2
heterogeneous nuclear ribonucleoprotein A1 like 2
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr 3:29,547,847...29,549,047
Ensembl chr 3:29,548,013...29,548,972
G
INTS6
integrator complex subunit 6
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr 3:29,250,059...29,341,933
Ensembl chr 3:29,253,152...29,341,933
G
ITM2B
integral membrane protein 2B
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr 3:26,149,429...26,178,172
Ensembl chr 3:26,149,379...26,177,622
G
KCNRG
potassium channel regulator
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr 3:27,926,469...27,932,895
G
KCTD12
potassium channel tetramerization domain containing 12
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr 3:55,970,438...55,973,640
Ensembl chr 3:55,972,438...55,973,415
G
KLF12
KLF transcription factor 12
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr 3:52,817,588...53,153,414
G
KLF5
KLF transcription factor 5
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr 3:52,188,139...52,210,882
G
KLHL1
kelch like family member 1
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr 3:48,812,816...49,237,894
Ensembl chr 3:48,812,845...49,086,381
G
KPNA3
karyopherin subunit alpha 3
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr 3:27,615,040...27,711,287
Ensembl chr 3:27,614,983...27,711,358
G
LMO7
LIM domain 7
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr 3:54,647,783...54,954,970
Ensembl chr 3:54,736,294...54,957,721
G
LPAR6
lysophosphatidic acid receptor 6
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr 3:26,332,770...26,335,289
Ensembl chr 3:26,333,023...26,334,054
G
MED4
mediator complex subunit 4
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr 3:25,990,203...26,009,472
Ensembl chr 3:25,990,159...26,009,438
G
MLNR
motilin receptor
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr 3:27,133,375...27,136,583
Ensembl chr 3:27,134,113...27,136,141
G
MYCBP2
MYC binding protein 2
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr 3:56,128,691...56,412,854
Ensembl chr 3:56,128,428...56,412,923
G
MZT1
mitotic spindle organizing protein 1
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr 3:51,840,354...51,860,248
Ensembl chr 3:51,842,167...51,860,164
G
NDFIP2
Nedd4 family interacting protein 2
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr 3:58,534,898...58,606,555
Ensembl chr 3:58,534,973...58,601,812
G
NEK3
NIMA related kinase 3
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr 3:30,018,641...30,048,787
Ensembl chr 3:30,018,635...30,045,216
G
NEK5
NIMA related kinase 5
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr 3:29,950,605...30,015,114
Ensembl chr 3:29,951,153...30,013,658
G
NUDT15
nudix hydrolase 15
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr 3:25,966,148...25,974,143
Ensembl chr 3:25,966,876...25,973,647
G
OBI1
ORC ubiquitin ligase 1
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr 3:57,683,989...57,726,851
Ensembl chr 3:57,683,746...57,726,750
G
OLFM4
olfactomedin 4
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr 3:30,753,677...30,810,980
Ensembl chr 3:30,787,999...30,810,980
G
PCDH17
protocadherin 17
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr 3:35,423,998...35,518,776
Ensembl chr 3:35,426,230...35,519,023
G
PCDH20
protocadherin 20
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr 3:39,182,981...39,190,128
Ensembl chr 3:39,185,301...39,189,206
G
PCDH8
protocadherin 8
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr 3:30,602,449...30,610,656
Ensembl chr 3:30,602,321...30,606,926
G
PCDH9
protocadherin 9
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr 3:45,256,171...46,194,724
G
PHF11
PHD finger protein 11
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr 3:27,414,664...27,448,814
Ensembl chr 3:27,414,361...27,451,009
G
PIBF1
progesterone immunomodulatory binding factor 1
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr 3:51,916,787...52,153,018
G
POU4F1
POU class 4 homeobox 1
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr 3:57,667,248...57,673,071
G
RB1
RB transcriptional corepressor 1
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr 3:26,220,783...26,393,671
Ensembl chr 3:26,220,803...26,394,546
G
RBM26
RNA binding motif protein 26
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr 3:58,366,214...58,457,989
Ensembl chr 3:58,371,352...58,457,535
G
RCBTB1
RCC1 and BTB domain containing protein 1
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr 3:27,451,687...27,505,866
Ensembl chr 3:27,451,182...27,506,013
G
RCBTB2
RCC1 and BTB domain containing protein 2
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr 3:26,401,787...26,447,315
Ensembl chr 3:26,401,786...26,437,619
G
RNASEH2B
ribonuclease H2 subunit B
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr 3:28,791,490...28,856,542
Ensembl chr 3:28,791,748...28,841,733
G
SCEL
sciellin
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr 3:56,473,748...56,733,336
Ensembl chr 3:56,621,817...56,730,830
G
SERPINE3
serpin family E member 3
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr 3:29,227,812...29,251,219
Ensembl chr 3:29,228,049...29,249,397
G
SETDB2
SET domain bifurcated histone lysine methyltransferase 2
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr 3:27,359,571...27,410,910
Ensembl chr 3:27,360,150...27,411,466
G
SLAIN1
SLAIN motif family member 1
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr 3:56,774,381...56,840,862
Ensembl chr 3:56,774,157...56,839,851
G
SLITRK1
SLIT and NTRK like family member 1
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr 3:62,912,035...62,917,774
Ensembl chr 3:62,914,244...62,916,331
G
SLITRK6
SLIT and NTRK like family member 6
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr 3:64,808,716...64,822,519
Ensembl chr 3:64,809,920...64,812,442
G
SPRY2
sprouty RTK signaling antagonist 2
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr 3:59,357,611...59,362,705
Ensembl chr 3:59,358,394...59,359,341
G
SPRYD7
SPRY domain containing 7
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr 3:27,832,306...27,890,996
G
SUCLA2
succinate-CoA ligase ADP-forming subunit beta
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr 3:25,889,687...25,951,641
G
SUGT1
SGT1 homolog, MIS12 kinetochore complex assembly cochaperone
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr 3:30,415,371...30,451,337
Ensembl chr 3:30,415,591...30,450,879
G
TBC1D4
TBC1 domain family member 4
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr 3:54,384,597...54,588,842
Ensembl chr 3:54,386,342...54,464,531
G
TDRD3
tudor domain containing 3
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr 3:38,174,141...38,361,626
Ensembl chr 3:38,174,990...38,361,622
G
THSD1
thrombospondin type 1 domain containing 1
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr 3:30,152,706...30,180,223
Ensembl chr 3:30,153,364...30,183,302
G
TMEM272
transmembrane protein 272
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
G
TRIM13
tripartite motif containing 13
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr 3:27,851,552...27,925,379
Ensembl chr 3:27,924,150...27,925,373
G
UCHL3
ubiquitin C-terminal hydrolase L3
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
Ensembl chr 3:54,647,590...54,706,497
G
UTP14C
UTP14C small subunit processome component
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr 3:29,912,001...29,920,880
Ensembl chr 3:29,916,080...29,918,395
G
VPS36
vacuolar protein sorting 36 homolog
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr 3:30,112,245...30,147,976
Ensembl chr 3:30,112,322...30,145,275
G
WDFY2
WD repeat and FYVE domain containing 2
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr 3:29,462,390...29,644,021
Ensembl chr 3:29,462,836...29,640,806
G
ACTR1A
actin related protein 1A
ISO
ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma
ClinVar
PMID:12068298
NCBI chr 9:95,507,685...95,531,015
Ensembl chr 9:95,506,675...95,530,984
G
ARID2
AT-rich interaction domain 2
ISO
ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma
ClinVar
PMID:26580448
NCBI chr11:41,933,650...42,117,495
Ensembl chr11:42,028,083...42,118,892
G
ARL3
ARF like GTPase 3
ISO
ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma
ClinVar
PMID:12068298
NCBI chr 9:95,703,648...95,737,785
G
AS3MT
arsenite methyltransferase
ISO
ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma
ClinVar
PMID:12068298
NCBI chr 9:95,911,465...95,939,554
Ensembl chr 9:95,912,086...95,939,375
G
ATP5MK
ATP synthase membrane subunit k
ISO
ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma
ClinVar
PMID:12068298
NCBI chr 9:96,432,664...96,442,110
Ensembl chr 9:96,432,668...96,442,067
G
BORCS7
BLOC-1 related complex subunit 7
ISO
ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma
ClinVar
PMID:12068298
NCBI chr 9:95,895,775...95,906,861
Ensembl chr 9:95,895,551...95,905,320
G
CALHM1
calcium homeostasis modulator 1
ISO
ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma
ClinVar
PMID:12068298
NCBI chr 9:96,500,716...96,507,439
Ensembl chr 9:96,502,577...96,506,072
G
CALHM2
calcium homeostasis modulator family member 2
ISO
ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma
ClinVar
PMID:12068298
NCBI chr 9:96,493,807...96,499,892
Ensembl chr 9:96,493,488...96,499,358
G
CALHM3
calcium homeostasis modulator 3
ISO
ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma
ClinVar
PMID:12068298
NCBI chr 9:96,520,508...96,543,924
Ensembl chr 9:96,520,912...96,527,841
G
CFAP43
cilia and flagella associated protein 43
ISO
ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma
ClinVar
PMID:12068298
NCBI chr 9:97,179,767...97,283,267
Ensembl chr 9:97,179,647...97,283,225
G
CFAP58
cilia and flagella associated protein 58
ISO
ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma
ClinVar
PMID:12068298
NCBI chr 9:97,400,284...97,510,489
Ensembl chr 9:97,409,380...97,510,661
G
CNNM2
cyclin and CBS domain divalent metal cation transport mediator 2
ISO
ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma
ClinVar
PMID:12068298
NCBI chr 9:95,956,224...96,130,714
Ensembl chr 9:95,955,654...96,122,976
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COL17A1
collagen type XVII alpha 1 chain
ISO
ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma
ClinVar
PMID:12068298
NCBI chr 9:97,079,444...97,136,878
Ensembl chr 9:97,080,191...97,135,545
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CTCF
CCCTC-binding factor
ISO
ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma
ClinVar
NCBI chr 5:59,806,753...59,889,534
Ensembl chr 5:59,806,551...59,880,049
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CUNH10orf95
chromosome unknown C10orf95 homolog
ISO
ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma
ClinVar
PMID:12068298
NCBI chr 9:95,479,426...95,481,662
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CYP17A1
cytochrome P450 family 17 subfamily A member 1
ISO
ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma
ClinVar
PMID:12068298
NCBI chr 9:95,870,098...95,877,345
Ensembl chr 9:95,866,908...95,877,180
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GSTO1
glutathione S-transferase omega 1
ISO
ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma
ClinVar
PMID:12068298
NCBI chr 9:97,305,094...97,317,892
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GSTO2
glutathione S-transferase omega 2
ISO
ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma
ClinVar
PMID:12068298
NCBI chr 9:97,319,695...97,348,406
Ensembl chr 9:97,325,215...97,349,422
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INA
internexin neuronal intermediate filament protein alpha
ISO
ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma
ClinVar
PMID:12068298
NCBI chr 9:96,325,122...96,338,057
Ensembl chr 9:96,325,180...96,336,358
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ITPRIP
inositol 1,4,5-trisphosphate receptor interacting protein
ISO
ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma
ClinVar
PMID:12068298
NCBI chr 9:97,362,766...97,384,115
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MFSD13A
major facilitator superfamily domain containing 13A
ISO
ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma
ClinVar
PMID:12068298
NCBI chr 9:95,490,196...95,504,569
Ensembl chr 9:95,497,252...95,504,434
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NEURL1
neuralized E3 ubiquitin protein ligase 1
ISO
ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma
ClinVar
PMID:12068298
NCBI chr 9:96,542,046...96,641,912
Ensembl chr 9:96,542,473...96,639,761
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NT5C2
5'-nucleotidase, cytosolic II
ISO
ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma
ClinVar
PMID:12068298
NCBI chr 9:96,133,873...96,325,122
Ensembl chr 9:96,135,400...96,219,956
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PCGF6
polycomb group ring finger 6
ISO
ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma
ClinVar
PMID:12068298
NCBI chr 9:96,349,418...96,396,083
Ensembl chr 9:96,349,423...96,395,650
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PDCD11
programmed cell death 11
ISO
ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma
ClinVar
PMID:12068298
NCBI chr 9:96,442,214...96,493,320
Ensembl chr 9:96,442,237...96,493,318
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SFR1
SWI5 dependent homologous recombination repair protein 1
ISO
ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma
ClinVar
PMID:12068298
NCBI chr 9:97,171,948...97,176,232
Ensembl chr 9:97,172,037...97,176,369
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SFXN2
sideroflexin 2
ISO
ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma
ClinVar
PMID:12068298
NCBI chr 9:95,752,621...95,775,639
Ensembl chr 9:95,762,074...95,776,073
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SH3PXD2A
SH3 and PX domains 2A
ISO
ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma
ClinVar
PMID:12068298
NCBI chr 9:96,645,955...96,898,749
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SLK
STE20 like kinase
ISO
ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma
ClinVar
PMID:12068298
NCBI chr 9:97,016,085...97,077,133
Ensembl chr 9:97,016,184...97,077,138
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SORCS3
sortilin related VPS10 domain containing receptor 3
ISO
ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma
ClinVar
PMID:12068298
NCBI chr 9:97,688,826...98,299,715
Ensembl chr 9:97,883,836...98,299,712
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STN1
STN1 subunit of CST complex
ISO
ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma
ClinVar
PMID:12068298
NCBI chr 9:96,919,584...96,967,941
Ensembl chr 9:96,915,951...96,967,394
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SUFU
SUFU negative regulator of hedgehog signaling
ISO
ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma
ClinVar
PMID:12068298
NCBI chr 9:95,532,228...95,660,594
Ensembl chr 9:95,532,242...95,657,290
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TAF5
TATA-box binding protein associated factor 5
ISO
ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma
ClinVar
PMID:12068298
NCBI chr 9:96,411,690...96,432,668
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TRIM8
tripartite motif containing 8
ISO
ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma
ClinVar
PMID:12068298
NCBI chr 9:95,671,622...95,686,701
Ensembl chr 9:95,672,648...95,689,247
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WBP1L
WW domain binding protein 1 like
ISO
ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma
ClinVar
PMID:12068298
NCBI chr 9:95,780,039...95,855,013
Ensembl chr 9:95,811,108...95,855,426
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BRIP1
BRCA1 interacting DNA 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...
NCBI chr16:32,909,226...33,085,551
Ensembl chr16:32,910,693...33,082,587
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NF1
neurofibromin 1
ISO
ClinVar Annotator: match by term: Diffuse intrinsic pontine glioma
ClinVar
PMID:25741868 PMID:28492532
NCBI chr16:24,550,983...24,836,311
Ensembl chr16:24,550,977...24,836,307
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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 chr14:77,632,809...78,408,307
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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
NCBI chr 3:11,070,086...11,155,257
Ensembl chr 3:11,071,682...11,155,213
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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 chr11:53,661,877...53,665,688
Ensembl chr11:53,659,336...53,664,861
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FANCA
FA complementation group A
ISO
ClinVar Annotator: match by term: Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype
ClinVar
PMID:25741868
NCBI chr 5:75,073,161...75,149,110
Ensembl chr 5:75,073,358...75,148,591
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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 chr27:46,958,444...46,974,032
Ensembl chr27:46,957,254...46,973,392
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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 chr10:94,021,002...94,039,997
Ensembl chr10:94,020,818...94,039,975
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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 chr25:26,599,740...26,685,256
Ensembl chr25:26,600,736...26,683,632
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LOC103246803
mismatch repair endonuclease PMS2
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
NCBI chr28:15,174,359...15,209,962
Ensembl chr28:15,172,100...15,209,852
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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
NCBI chr16:24,550,983...24,836,311
Ensembl chr16:24,550,977...24,836,307
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PALB2
partner and localizer of BRCA2
ISO
ClinVar Annotator: match by term: Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype
ClinVar
PMID:25741868
NCBI chr 5:21,322,952...21,358,363
Ensembl chr 5:21,322,975...21,358,198
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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...
NCBI chr 9:38,746,088...38,798,773
Ensembl chr 9:38,769,170...38,796,712
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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 4:163,726...190,145
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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...
NCBI chr16:7,047,686...7,065,567
Ensembl chr16:7,045,146...7,066,223
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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
NCBI chr11:53,658,532...53,661,159
Ensembl chr11:53,658,802...53,660,951
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BRAF
B-Raf proto-oncogene, serine/threonine kinase
ISO
DNA:mutation:cds:p.V600E(human)
RGD
PMID:25346165
RGD:11567238
NCBI chr21:109,495,525...109,690,261
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BCL7C
BAF chromatin remodeling complex subunit BCL7C
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26075792
NCBI chr 5:27,518,716...27,577,695
Ensembl chr 5:27,570,726...27,577,538
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EPHB2
EPH receptor B2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26075792
NCBI chr20:109,747,883...109,954,936
Ensembl chr20:109,746,925...109,890,777
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GDNF
glial cell derived neurotrophic factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19138852
NCBI chr 4:36,662,033...36,691,761
Ensembl chr 4:36,665,009...36,684,257
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IGF2
insulin like growth factor 2
ISO
mRNA:increased expression:cerebellum
RGD
PMID:18478565
RGD:5509961
NCBI chr 1:1,937,414...1,951,238
Ensembl chr 1:1,936,830...1,945,388
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RAB3A
RAB3A, member RAS oncogene family
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26075792
NCBI chr 6:16,671,388...16,678,780
Ensembl chr 6:16,670,431...16,678,644
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RTBDN
retbindin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26075792
NCBI chr 6:11,508,417...11,524,011
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SHC3
SHC adaptor protein 3
ISO
DNA:amplification:brain:
RGD
PMID:19748727
RGD:13782069
NCBI chr12:99,503,936...99,672,438
Ensembl chr12:99,506,647...99,669,792
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ZNF668
zinc finger protein 668
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26075792
NCBI chr 5:27,749,292...27,761,905
Ensembl chr 5:27,749,164...27,752,954
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RB1
RB transcriptional corepressor 1
ISO
ClinVar Annotator: match by term: Hereditary retinoblastoma
ClinVar
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 More...
NCBI chr 3:26,220,783...26,393,671
Ensembl chr 3:26,220,803...26,394,546
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KRAS
KRAS proto-oncogene, GTPase
ISO
mRNA:decreased expression:brain
RGD
PMID:19179066
RGD:13702872
NCBI chr11:24,963,396...25,010,747
Ensembl chr11:24,973,619...25,005,191
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ACTR3
actin related protein 3
ISO
mRNA:increased expression:brain (human)
RGD
PMID:25682201
RGD:11570557
NCBI chr10:16,296,350...16,369,561
Ensembl chr10:16,297,502...16,369,220
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ADGRL4
adhesion G protein-coupled receptor L4
treatment severity
ISO
RGD
PMID:23096411 PMID:27416955
RGD:13838664 RGD:13838665
NCBI chr20:54,208,073...54,325,120
Ensembl chr20:54,208,321...54,327,545
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AKT1
AKT serine/threonine kinase 1
ISO
RGD
PMID:10802656
RGD:734543
NCBI chr24:82,704,087...82,730,711
Ensembl chr24:82,704,068...82,727,698
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AKT3
AKT serine/threonine kinase 3
disease_progression
ISO
RGD
PMID:27422127
RGD:13674164
NCBI chr25:80,509,701...80,878,792
Ensembl chr25:80,515,168...80,816,018
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APC
APC regulator of WNT signaling pathway
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:7661930
NCBI chr23:15,992,437...16,135,117
Ensembl chr23:16,042,287...16,137,067
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ARRB2
arrestin beta 2
ameliorates
ISO
RGD
PMID:34007068
RGD:401938608
NCBI chr16:4,191,040...4,202,382
Ensembl chr16:4,191,172...4,202,385
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ASPM
assembly factor for spindle microtubules
ISO
mRNA:increased expression:brain:
RGD
PMID:18636190
RGD:13439742
NCBI chr25:32,269,518...32,334,617
Ensembl chr25:32,281,424...32,334,977
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ATM
ATM serine/threonine kinase
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...
NCBI chr 1:99,653,208...99,786,889
Ensembl chr 1:99,653,139...99,791,520
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ATRX
ATRX chromatin remodeler
disease_progression
ISO
ClinVar Annotator: match by term: Glioblastoma multiforme, somatic
RGD ClinVar
PMID:27478330
RGD:13442489
NCBI chr X:66,449,830...66,737,220
Ensembl chr X:66,448,449...66,737,164
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BAG3
BAG cochaperone 3
treatment
ISO
RGD
PMID:21561597
RGD:5687132
NCBI chr 9:112,439,954...112,465,875
Ensembl chr 9:112,439,782...112,466,086
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BCHE
butyrylcholinesterase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:2317787
NCBI chr15:23,708,121...23,778,027
Ensembl chr15:23,708,155...23,778,286
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BECN1
beclin 1
disease_progression
ISO
RGD
PMID:20863706
RGD:6483102
NCBI chr16:63,469,187...63,482,627
Ensembl chr16:63,469,192...63,485,322
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BHLHE40
basic helix-loop-helix family member e40
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23582323
NCBI chr22:41,049,673...41,055,365
Ensembl chr22:41,049,712...41,055,360
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BIRC3
baculoviral IAP repeat containing 3
exacerbates
ISO
mRNA:increased expression:brain (human)
RGD
PMID:31964418
RGD:153344516
NCBI chr 1:93,692,239...93,711,905
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BMI1
BMI1 proto-oncogene, polycomb ring finger
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19823589
NCBI chr 9:22,095,592...22,104,894
G
BRAF
B-Raf proto-oncogene, serine/threonine kinase
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...
NCBI chr21:109,495,525...109,690,261
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BRD2
bromodomain containing 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27388964
NCBI chr17:39,113,519...39,126,267
G
BRD4
bromodomain containing 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26455392 PMID:27388964
NCBI chr 6:13,836,332...13,883,459
Ensembl chr 6:13,836,324...13,873,877
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BRD7
bromodomain containing 7
ISO
protein:increased expression:brain:
RGD
PMID:24404152
RGD:9586441
NCBI chr 5:36,114,951...36,168,786
Ensembl chr 5:36,112,289...36,168,728
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CBX6
chromobox 6
disease_progression
ISO
mRNA,protein:decreased expression:astrocyte:
RGD
PMID:24260522
RGD:9587354
NCBI chr19:21,525,609...21,536,406
Ensembl chr19:21,525,596...21,536,352
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CBX7
chromobox 7
disease_progression
ISO
mRNA,protein:decreased expression:astrocyte:
RGD
PMID:24260522
RGD:9587354
NCBI chr19:21,776,618...21,798,525
Ensembl chr19:21,775,931...21,798,309
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CBX8
chromobox 8
ISO
mRNA:increased expression:astrocyte:
RGD
PMID:24260522
RGD:9587354
NCBI chr16:71,755,598...71,760,611
Ensembl chr16:71,755,627...71,760,632
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CCNH
cyclin H
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30705370
NCBI chr 4:81,373,812...81,392,454
Ensembl chr 4:81,373,994...81,392,326
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CD9
CD9 molecule
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26573230
NCBI chr11:6,236,449...6,275,904
Ensembl chr11:6,236,494...6,275,909
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CDK4
cyclin dependent kinase 4
ISO
DNA:amplication
RGD
PMID:23796897
RGD:13702089
NCBI chr11:53,661,877...53,665,688
Ensembl chr11:53,659,336...53,664,861
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CDK6
cyclin dependent kinase 6
severity
ISO
CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:10884881 PMID:20534551
RGD:13702095
NCBI chr21:56,167,731...56,403,976
Ensembl chr21:56,170,450...56,393,808
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CHAF1B
chromatin assembly factor 1 subunit B
ISO
protein:increased expression:brain:
RGD
PMID:24039914
RGD:9587472
NCBI chr 2:80,379,637...80,409,626
Ensembl chr 2:80,380,425...80,409,687
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CHI3L1
chitinase 3 like 1
ISO
CTD Direct Evidence: marker/mechanism mRNA:increased expression:brain, tumor (human)
CTD RGD
PMID:11161003 PMID:21029458
RGD:4892621
NCBI chr25:26,160,993...26,169,005
Ensembl chr25:26,160,961...26,169,566
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CPE
carboxypeptidase E
disease_progression
ISO
mRNA, protein:decreased expression:brain tumor (human)
RGD
PMID:22249620
RGD:405650684
NCBI chr 7:111,747,265...111,867,548
Ensembl chr 7:111,747,172...111,868,754
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CPEB1
cytoplasmic polyadenylation element binding protein 1
disease_progression
ISO
RGD
PMID:23360795
RGD:9685152
NCBI chr29:3,005,891...3,106,732
Ensembl chr29:3,006,532...3,106,793
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CREBBP
CREB binding protein
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...
NCBI chr 5:3,415,548...3,570,030
Ensembl chr 5:3,415,412...3,540,943
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CSTA
cystatin A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22287159
NCBI chr22:58,519,085...58,536,163
Ensembl chr22:58,519,085...58,536,339
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CSTB
cystatin B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22287159
NCBI chr 2:87,551,341...87,555,145
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CTNND2
catenin delta 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23917401
NCBI chr 4:10,499,822...11,426,432
Ensembl chr 4:10,500,761...10,762,677
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CTSB
cathepsin B
ISO
CTD Direct Evidence: marker/mechanism protein:increased expression:glioma cell (human)
CTD RGD
PMID:17898873 PMID:22287159
RGD:2315515
NCBI chr 8:7,246,076...7,269,655
Ensembl chr 8:7,246,013...7,268,854
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CTSH
cathepsin H
ISO
protein:increased expression:brain
RGD
PMID:8640738
RGD:1549417
NCBI chr26:4,451,731...4,473,220
Ensembl chr26:4,451,774...4,472,855
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CTSK
cathepsin K
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25356585
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CUNH11orf65
chromosome unknown C11orf65 homolog
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...
NCBI chr 1:99,804,191...99,879,834
Ensembl chr 1:99,804,218...99,827,182
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CXCL8
C-X-C motif chemokine ligand 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16356833
NCBI chr 7:22,202,497...22,205,730
Ensembl chr 7:22,202,527...22,204,068
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DEUP1
deuterosome assembly protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30705370
NCBI chr 1:84,579,296...84,678,064
Ensembl chr 1:84,580,213...84,678,661
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DMBT1
deleted in malignant brain tumors 1
ISO
DNA:deletion
RGD
PMID:9288095
RGD:1599778
NCBI chr 9:115,344,861...115,346,308
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DNMT3A
DNA methyltransferase 3 alpha
ISO
ClinVar Annotator: match by term: Glioblastoma
ClinVar
NCBI chr14:82,313,414...82,427,170
Ensembl chr14:82,402,826...82,420,819
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DUSP6
dual specificity phosphatase 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21499306
NCBI chr11:84,741,957...84,747,038
Ensembl chr11:84,741,444...84,745,886
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E2F1
E2F transcription factor 1
disease_progression
ISO
RGD
PMID:16264179
RGD:13702471
NCBI chr 2:37,968,541...37,980,461
Ensembl chr 2:37,968,556...37,980,326
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EGF
epidermal growth factor
susceptibility
ISO
DNA:polymorphism:promoter:+61A>G(human) CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:16598420 PMID:22481252
RGD:13702472
NCBI chr 7:57,810,110...57,911,361
Ensembl chr 7:57,811,728...57,911,516
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EGFR
epidermal growth factor receptor
ISO
ClinVar Annotator: match by term: Glioblastoma | ClinVar Annotator: match by term: Glioblastoma multiforme, somatic
ClinVar
PMID:2302402 PMID:15118073 PMID:15118125 PMID:15329413 PMID:15710947 PMID:15738541 PMID:16011858 PMID:16115929 PMID:17177598 PMID:18199554 PMID:18458038 PMID:19536777 PMID:19671738 PMID:19922469 PMID:20479403 PMID:21531810 PMID:21841502 PMID:22753918 PMID:23102728 PMID:23242437 PMID:23945392 PMID:24033266 PMID:25157968 PMID:26619011 PMID:28492532 PMID:31396478 More...
NCBI chr21:3,664,622...3,853,492
Ensembl chr21:3,666,339...3,853,239
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ENPP1
ectonucleotide pyrophosphatase/phosphodiesterase 1
severity
ISO
protein:increased expression:brain (human)
RGD
PMID:21195542
RGD:13204719
NCBI chr13:41,670,416...41,755,549
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EZH2
enhancer of zeste 2 polycomb repressive complex 2 subunit
treatment
ISO
RGD
PMID:25595591
RGD:14928319
NCBI chr21:117,380,518...117,515,224
Ensembl chr21:117,380,361...117,421,573
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FABP7
fatty acid binding protein 7
severity
ISO
mRNA, protein:increased expression:brain (human)
RGD
PMID:15827123
RGD:1578468
NCBI chr13:51,021,485...51,026,060
Ensembl chr13:51,021,501...51,026,038
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FAM83D
family with sequence similarity 83 member D
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:35150198
NCBI chr 2:24,800,558...24,828,048
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FAT1
FAT atypical cadherin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23354438
NCBI chr 7:132,475,689...132,616,151
Ensembl chr 7:132,483,032...132,616,112
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FBXW7
F-box and WD repeat domain containing 7
ISO
ClinVar Annotator: match by term: Glioblastoma
ClinVar
PMID:26619011
NCBI chr 7:98,894,261...99,105,955
Ensembl chr 7:98,892,504...99,106,084
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FGFR1
fibroblast growth factor receptor 1
ISO
ClinVar Annotator: match by term: Glioblastoma
ClinVar
PMID:25705862 PMID:26619011 PMID:26942290 PMID:33448156
NCBI chr 8:36,426,116...36,485,683
Ensembl chr 8:36,427,110...36,485,508
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FLT3LG
fms related receptor tyrosine kinase 3 ligand
treatment
ISO
RGD
PMID:18079358
RGD:11049502
NCBI chr 6:42,653,820...42,665,017
Ensembl chr 6:42,654,412...42,660,458
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FN1
fibronectin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17099729
NCBI chr10:101,177,867...101,254,613
Ensembl chr10:101,176,789...101,254,633
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FOSL2
FOS like 2, AP-1 transcription factor subunit
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23582323
NCBI chr14:79,201,128...79,222,363
Ensembl chr14:79,201,649...79,222,373
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FXN
frataxin
ISO
RGD
PMID:21863062
RGD:401793715
NCBI chr12:80,133,899...80,173,950
Ensembl chr12:80,134,422...80,173,168
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GDNF
glial cell derived neurotrophic factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19138852
NCBI chr 4:36,662,033...36,691,761
Ensembl chr 4:36,665,009...36,684,257
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GRIK2
glutamate ionotropic receptor kainate type subunit 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30705370
NCBI chr13:71,855,960...72,545,376
Ensembl chr13:71,855,794...72,325,857
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H2AFX
histone H2AX
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26651356
NCBI chr 1:110,466,692...110,468,776
Ensembl chr 1:110,467,775...110,468,206
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HEATR1
HEAT repeat containing 1
ISO
mRNA, protein:increased expression:brain
RGD
PMID:25126583
RGD:10761721
NCBI chr25:73,684,845...73,743,594
Ensembl chr25:73,685,895...73,743,654
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HES1
hes family bHLH transcription factor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21127729
NCBI chr15:88,220,093...88,222,563
Ensembl chr15:88,220,083...88,223,243
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HEY1
hes related family bHLH transcription factor with YRPW motif 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21127729
NCBI chr 8:75,225,081...75,228,941
Ensembl chr 8:75,224,769...75,228,896
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HIF1A
hypoxia inducible factor 1 subunit alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12811834
NCBI chr24:38,873,830...38,927,657
Ensembl chr24:38,873,861...38,928,288
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HOXD10
homeobox D10
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:34737577
NCBI chr10:61,686,868...61,694,965
Ensembl chr10:61,691,797...61,694,415
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HRAS
HRas proto-oncogene, GTPase
severity
ISO
ClinVar Annotator: match by term: Glioblastoma ClinVar Annotator: match by term: Glioblastoma | ClinVar Annotator: match by term: Glioblastoma, somatic
RGD 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:19179066 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...
RGD:13702872
NCBI chr 1:343,613...345,782
Ensembl chr 1:343,506...346,637
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IDH1
isocitrate dehydrogenase (NADP(+)) 1
disease_progression onset
ISO
DNA:mutation:cds:p.R132(human) ClinVar Annotator: match by term: Glioblastoma | ClinVar Annotator: match by term: Glioblastoma, somatic DNA:mutation:cds:p.R132H(human)
RGD ClinVar
PMID:18772396 PMID:19657110 PMID:19765000 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:25495392 PMID:25741868 PMID:26619011 PMID:27993330 PMID:30231226 PMID:36201590 More...
RGD:11074562 RGD:11522732
NCBI chr10:94,021,002...94,039,997
Ensembl chr10:94,020,818...94,039,975
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IFNA2
interferon alpha 2
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:18679580
NCBI chr12:58,468,018...58,469,825
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IL16
interleukin 16
ISO
protein:increased expression:brain
RGD
PMID:17221335
RGD:5024941
NCBI chr26:2,080,985...2,208,764
Ensembl chr26:2,077,228...2,208,431
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IL1B
interleukin 1 beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16356833
NCBI chr14:15,844,628...15,852,652
Ensembl chr14:15,844,672...15,850,729
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IL2
interleukin 2
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:7719933
NCBI chr 7:69,729,635...69,736,279
Ensembl chr 7:69,730,282...69,734,969
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JAG1
jagged canonical Notch ligand 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21127729
NCBI chr 2:27,484,699...27,521,108
Ensembl chr 2:27,484,760...27,522,504
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JAG2
jagged canonical Notch ligand 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21127729
NCBI chr24:83,050,412...83,081,982
Ensembl chr24:83,051,368...83,076,820
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KCNC2
potassium voltage-gated channel subfamily C member 2
ISO
mRNA:splice variant (human)
RGD
PMID:18474104
RGD:9686067
NCBI chr11:70,603,034...70,770,625
Ensembl chr11:70,603,003...70,768,859
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KDR
kinase insert domain receptor
treatment
ISO
RGD
PMID:26325365
RGD:11529678
NCBI chr 7:13,435,059...13,482,236
Ensembl chr 7:13,435,096...13,482,771
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KRAS
KRAS proto-oncogene, GTPase
treatment
ISO
mRNA:decreased expression:brain
RGD
PMID:16166301 PMID:19179066
RGD:13702861 RGD:13702872
NCBI chr11:24,963,396...25,010,747
Ensembl chr11:24,973,619...25,005,191
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L1CAM
L1 cell adhesion molecule
ISO
mRNA:decreased expression:brain, temporal lobe (human)
RGD
PMID:20419098
RGD:6483067
NCBI chr X:128,285,128...128,309,173
Ensembl chr X:128,285,130...128,299,570
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LOC103231004
histone H3.3A
ISO
ClinVar Annotator: match by term: Glioblastoma
ClinVar
PMID:26619011 PMID:26822237
NCBI chr25:3,696,153...3,704,886
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LOC103237529
adhesion G protein-coupled receptor B1
treatment
ISO
mRNA:decreased expression:brain:
RGD
PMID:12507886 PMID:16244591
RGD:13831352 RGD:13831355
NCBI chr 8:136,704,318...136,784,581
Ensembl chr 8:136,704,341...136,783,991
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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...
NCBI chr 1:352,131...370,276
Ensembl chr 1:355,982...369,633
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LRRC59
leucine rich repeat containing 59
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30705370
NCBI chr16:42,931,726...42,949,281
Ensembl chr16:42,932,549...42,947,655
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LTBP4
latent transforming growth factor beta binding protein 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27270107
NCBI chr 6:35,056,287...35,090,544
Ensembl chr 6:35,061,225...35,090,542
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LZTR1
leucine zipper like post translational regulator 1
ISO
CTD Direct Evidence: marker/mechanism DNA:mutations:multiple (human)
CTD RGD
PMID:23917401
RGD:151708722
NCBI chr19:4,917,381...4,935,174
Ensembl chr19:4,918,360...4,933,439
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MACIR
macrophage immunometabolism regulator
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30705370
NCBI chr23:6,695,131...6,714,925
Ensembl chr23:6,712,171...6,712,791
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MAP1LC3A
microtubule associated protein 1 light chain 3 alpha
treatment
ISO
RGD
PMID:24905460
RGD:11561946
NCBI chr 2:38,857,235...38,858,955
Ensembl chr 2:38,857,299...38,858,505
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MAP2K2
mitogen-activated protein kinase kinase 2
treatment
ISO
RGD
PMID:26189368
RGD:13702862
NCBI chr 6:3,848,441...3,881,367
Ensembl chr 6:3,848,401...3,881,412
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MAP2K3
mitogen-activated protein kinase kinase 3
disease_progression
ISO
protein:increased expression, increased phosphorylation:brain
RGD
PMID:17406030
RGD:1641940
NCBI chr16:19,396,377...19,427,617
Ensembl chr16:19,396,452...19,427,652
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MDM2
MDM2 proto-oncogene
ISO
DNA:amplication
RGD
PMID:23796897
RGD:13702089
NCBI chr11:64,434,203...64,465,490
Ensembl chr11:64,434,261...64,469,890
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MDM4
MDM4 regulator of p53
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20472715
NCBI chr25:24,797,238...24,843,034
Ensembl chr25:24,797,278...24,833,485
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MED12
mediator complex subunit 12
ISO
ClinVar Annotator: match by term: Glioblastoma
ClinVar
PMID:26822237
NCBI chr X:60,915,796...60,939,220
Ensembl chr X:60,915,703...60,937,677
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MET
MET proto-oncogene, receptor tyrosine kinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22162573
NCBI chr21:85,370,574...85,486,405
Ensembl chr21:85,397,645...85,488,093
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MGMT
O-6-methylguanine-DNA methyltransferase
ISO
CTD Direct Evidence: marker/mechanism DNA:transition:cds:p.L84F (human)
CTD RGD
PMID:14669534 PMID:20131314 PMID:22162573
RGD:2317667
NCBI chr 9:122,089,768...122,376,320
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MMP2
matrix metallopeptidase 2
severity
ISO
protein:increased expression:brain (human) CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:7616276 PMID:16598420
RGD:7207145
NCBI chr 5:41,264,382...41,291,657
Ensembl chr 5:41,264,354...41,291,004
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MMP7
matrix metallopeptidase 7
severity
ISO
protein:increased expression:brain (human)
RGD
PMID:7616276
RGD:7207145
NCBI chr 1:93,889,189...93,901,077
Ensembl chr 1:93,889,198...93,899,587
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MMP9
matrix metallopeptidase 9
severity treatment
ISO
protein:increased expression:brain (human) CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:7616276 PMID:12439751 PMID:16598420
RGD:7207145 RGD:8547973
NCBI chr 2:17,867,267...17,874,757
Ensembl chr 2:17,867,177...17,874,712
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MSH2
mutS homolog 2
ISO
ClinVar Annotator: match by term: Glioblastoma
ClinVar
PMID:25741868
NCBI chr14:59,730,101...59,802,857
Ensembl chr14:59,729,789...59,802,819
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MTOR
mechanistic target of rapamycin kinase
ISO
ClinVar Annotator: match by term: Glioblastoma
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 More...
NCBI chr20:120,522,667...120,678,988
Ensembl chr20:120,525,737...120,679,020
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MYC
MYC proto-oncogene, bHLH transcription factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21127729
NCBI chr 8:122,282,989...122,288,392
Ensembl chr 8:122,282,630...122,288,384
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MYCN
MYCN proto-oncogene, bHLH transcription factor
ISO
ClinVar Annotator: match by term: Glioblastoma
ClinVar
PMID:26619011
NCBI chr14:91,685,376...91,692,091
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NCOR1
nuclear receptor corepressor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17312396
NCBI chr16:15,442,315...15,629,411
Ensembl chr16:15,462,640...15,628,512
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NDRG1
N-myc downstream regulated 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15341671
NCBI chr 8:127,668,012...127,727,918
Ensembl chr 8:127,667,981...127,719,011
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NDRG4
NDRG family member 4
ISO
mRNA, protein:decreased expression:brain
RGD
PMID:22489821
RGD:7247726
NCBI chr 5:44,402,021...44,452,829
Ensembl chr 5:44,402,453...44,455,245
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NF1
neurofibromin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25119042
NCBI chr16:24,550,983...24,836,311
Ensembl chr16:24,550,977...24,836,307
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NFKBIA
NFKB inhibitor alpha
treatment
ISO
human cell line in a mouse model
RGD
PMID:15692608
RGD:127285387
NCBI chr24:12,211,619...12,216,185
Ensembl chr24:12,210,281...12,214,854
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NOTCH1
notch receptor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21127729
NCBI chr12:1,656,815...1,707,566
Ensembl chr12:1,656,918...1,709,585
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NOTCH2
notch receptor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21127729
NCBI chr20:13,712,140...13,871,777
Ensembl chr20:13,712,292...13,871,784
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NOTCH3
notch receptor 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21127729
NCBI chr 6:13,762,570...13,803,676
Ensembl chr 6:13,761,512...13,793,359
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NRAS
NRAS proto-oncogene, GTPase
ISO
ClinVar Annotator: match by term: Glioblastoma
ClinVar
PMID:1654209 PMID:2278970 PMID:2674680 PMID:3122217 PMID:6587382 PMID:8120410 PMID:10821536 PMID:12460918 PMID:12727991 PMID:14508525 PMID:15899789 PMID:16273091 PMID:16291983 PMID:16434492 PMID:17699718 PMID:18390968 PMID:18633438 PMID:18668139 PMID:18948947 PMID:19075190 PMID:19657110 PMID:19880792 PMID:19966803 PMID:20130576 PMID:20149136 PMID:20179705 PMID:20406486 PMID:20619739 PMID:20736745 PMID:21107323 PMID:21305640 PMID:21576590 PMID:21729679 PMID:21829508 PMID:22407852 PMID:22499344 PMID:22718121 PMID:22761467 PMID:22773810 PMID:23076151 PMID:23392294 PMID:23400451 PMID:23414587 PMID:23515407 PMID:23538902 PMID:23569304 PMID:23614898 PMID:24006476 PMID:24033266 PMID:24148783 PMID:24370118 PMID:24671188 PMID:25157968 PMID:25348872 PMID:25695684 PMID:25741868 PMID:26619011 PMID:26821351 PMID:27050078 PMID:28492532 PMID:28780248 More...
NCBI chr20:18,953,273...18,966,002
Ensembl chr20:18,953,883...18,961,931
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PDGFB
platelet derived growth factor subunit B
ISO
RGD
PMID:21210235
RGD:6482799
NCBI chr19:21,865,792...21,888,068
Ensembl chr19:21,863,768...21,886,395
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PDGFRB
platelet derived growth factor receptor beta
treatment
ISO
RGD
PMID:24566984
RGD:13702903
NCBI chr23:52,724,061...52,766,264
Ensembl chr23:52,724,005...52,766,234
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PDPN
podoplanin
ISO
RGD
PMID:16979138
RGD:2292241
NCBI chr20:118,644,060...118,679,508
Ensembl chr20:118,644,051...118,679,311
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PECAM1
platelet and endothelial cell adhesion molecule 1
ISO
RGD
PMID:21858729
RGD:6771207
NCBI chr16:56,863,763...56,947,479
Ensembl chr16:56,880,934...56,950,999
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PGF
placental growth factor
disease_progression
ISO
RGD
PMID:20458050
RGD:6483585
NCBI chr24:52,160,904...52,174,493
Ensembl chr24:52,161,787...52,173,989
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PIK3CA
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha
ISO
ClinVar Annotator: match by term: Glioblastoma | ClinVar Annotator: match by term: Glioblastoma multiforme
ClinVar
PMID:15016963 PMID:15254419 PMID:15520168 PMID:15608678 PMID:15647370 PMID:15805248 PMID:15930273 PMID:16339315 PMID:16353168 PMID:16906227 PMID:16930767 PMID:17376864 PMID:17673550 PMID:18074223 PMID:18371219 PMID:18676830 PMID:18725974 PMID:19029981 PMID:19223544 PMID:19366826 PMID:19513541 PMID:19671852 PMID:19903786 PMID:20177704 PMID:20453058 PMID:20581867 PMID:20593314 PMID:20619739 PMID:21078999 PMID:21430269 PMID:21558396 PMID:21824802 PMID:22120714 PMID:22162582 PMID:22162589 PMID:22209294 PMID:22271473 PMID:22357840 PMID:22370636 PMID:22658544 PMID:22729222 PMID:22729223 PMID:22729224 PMID:22949682 PMID:23066039 PMID:23100325 PMID:23246288 PMID:23408298 PMID:23888070 PMID:23946963 PMID:24033266 PMID:24265155 PMID:24559322 PMID:24782230 PMID:25157968 PMID:25599672 PMID:25681199 PMID:25741868 PMID:25880439 PMID:25915946 PMID:26266975 PMID:26266985 PMID:26619011 PMID:26627007 PMID:26637981 PMID:26822237 PMID:26851524 PMID:27126994 PMID:27283355 PMID:27626068 PMID:27631024 PMID:28151489 PMID:28425981 PMID:28492532 PMID:28941273 PMID:29296277 PMID:29446767 PMID:29661094 PMID:29758562 PMID:29988677 PMID:30063105 PMID:30376034 PMID:30543347 PMID:31536475 PMID:31568861 PMID:31775759 PMID:32778138 PMID:34008892 PMID:34496175 PMID:34568242 PMID:34606700 PMID:36474027 PMID:37667289 PMID:37712948 More...
NCBI chr15:10,218,034...10,304,874
Ensembl chr15:10,218,805...10,294,316
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PIK3CB
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta
disease_progression
ISO
RGD
PMID:21188471 PMID:26956052
RGD:11343921 RGD:13782050
NCBI chr15:51,705,585...51,885,848
Ensembl chr15:51,775,733...51,889,238
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PIK3CD
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta
disease_progression
ISO
RGD
PMID:24523440
RGD:13782051
NCBI chr20:122,040,131...122,111,397
Ensembl chr20:122,041,963...122,078,504
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PIK3R1
phosphoinositide-3-kinase regulatory subunit 1
ISO
ClinVar Annotator: match by term: Glioblastoma
ClinVar
PMID:19962457 PMID:25157968 PMID:26619011
NCBI chr 4:64,321,296...64,406,188
Ensembl chr 4:64,321,078...64,406,519
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PIM1
Pim-1 proto-oncogene, serine/threonine kinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23724780
NCBI chr17:34,968,661...34,973,920
Ensembl chr17:34,968,429...34,973,760
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PML
PML nuclear body scaffold
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23440206
NCBI chr26:9,441,998...9,494,949
Ensembl chr26:9,451,112...9,494,931
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POLE
DNA polymerase epsilon, catalytic subunit
ISO
ClinVar Annotator: match by term: Glioblastoma
ClinVar
PMID:25228659 PMID:26619011 PMID:27573199 PMID:28492532 PMID:29352080
NCBI chr11:127,966,879...128,030,442
Ensembl chr11:127,965,896...128,030,292
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POLK
DNA polymerase kappa
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26651356
NCBI chr 4:69,842,887...69,948,285
Ensembl chr 4:69,872,752...69,948,249
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POT1
protection of telomeres 1
ISO
ClinVar Annotator: match by term: Glioblastoma, somatic
ClinVar
PMID:28492532
NCBI chr21:93,572,139...93,688,374
Ensembl chr21:93,571,272...93,655,869
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PPARG
peroxisome proliferator activated receptor gamma
ISO
ClinVar Annotator: match by term: Glioblastoma, somatic
ClinVar
PMID:9467001 PMID:10381354 PMID:10523018 PMID:10690291 PMID:10851250 PMID:14569127 PMID:14616762 PMID:14671186 PMID:25741868 PMID:28492532 More...
NCBI chr22:48,262,743...48,407,415
Ensembl chr22:48,275,600...48,407,418
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PRKN
parkin RBR E3 ubiquitin protein ligase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19946270
NCBI chr13:88,856,056...90,329,379
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PROM1
prominin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18679414 PMID:18829568 PMID:19718438
NCBI chr27:34,093,699...34,243,630
Ensembl chr27:34,129,532...34,243,778
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PTEN
phosphatase and tensin homolog
ISO
ClinVar Annotator: match by term: Glioblastoma
ClinVar
PMID:1336932 PMID:1945792 PMID:9140396 PMID:9241266 PMID:9259288 PMID:9399897 PMID:9467011 PMID:9598803 PMID:9915974 PMID:10400993 PMID:10555148 PMID:10866302 PMID:10920277 PMID:10923032 PMID:11051241 PMID:11504908 PMID:11875759 PMID:11948419 PMID:15016963 PMID:15211648 PMID:15254419 PMID:15647370 PMID:16773562 PMID:16952599 PMID:17526800 PMID:17873882 PMID:17942903 PMID:18558293 PMID:18725974 PMID:18767981 PMID:19340001 PMID:19351834 PMID:19366826 PMID:19457929 PMID:19458356 PMID:19829307 PMID:19903786 PMID:20018398 PMID:20085938 PMID:20300775 PMID:20301661 PMID:20453058 PMID:20619739 PMID:20881644 PMID:20926450 PMID:21190448 PMID:21194675 PMID:21659347 PMID:21822720 PMID:21824802 PMID:21828076 PMID:21956414 PMID:22162582 PMID:22162589 PMID:22266152 PMID:22320991 PMID:22327138 PMID:22479427 PMID:22491738 PMID:22595938 PMID:23335809 PMID:23349303 PMID:23361946 PMID:23399955 PMID:23470840 PMID:23475934 PMID:24292679 PMID:24778394 PMID:25157968 PMID:25288137 PMID:25527629 PMID:25741868 PMID:26418532 PMID:26467025 PMID:26619011 PMID:26773036 PMID:26798346 PMID:27147599 PMID:27426521 PMID:27477328 PMID:27535533 PMID:28286253 PMID:28475857 PMID:28492532 PMID:28526761 PMID:28677221 PMID:29359449 PMID:29706350 PMID:29785012 PMID:30311380 PMID:30528446 PMID:30614812 PMID:31159747 PMID:31336731 PMID:31636093 PMID:32350270 PMID:32442409 PMID:33077954 PMID:35227301 PMID:36988593 More...
NCBI chr 9:81,308,058...81,412,386
Ensembl chr 9:81,309,099...81,409,146
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PTGS1
prostaglandin-endoperoxide synthase 1
disease_progression
ISO
protein:increased expression:microglia, macrophage,
RGD
PMID:10229132 PMID:11121536
RGD:5688245 RGD:5688250
NCBI chr12:17,195,403...17,218,450
Ensembl chr12:17,192,628...17,218,315
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PTGS2
prostaglandin-endoperoxide synthase 2
disease_progression
ISO
protein:increased expression:endothelial cell
RGD
PMID:10229132 PMID:11121536
RGD:5688245 RGD:5688250
NCBI chr25:42,733,535...42,742,463
Ensembl chr25:42,734,771...42,742,429
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PTK2
protein tyrosine kinase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12811834
NCBI chr 8:134,897,511...135,246,300
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PTN
pleiotrophin
ISO
protein:increased expression:brain (human)
RGD
PMID:14692702
RGD:151660507
NCBI chr21:105,911,171...106,027,108
Ensembl chr21:105,911,120...106,027,215
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PTPRB
protein tyrosine phosphatase receptor type B
treatment
ISO
protein:increased expression:brain (human) human cells in mouse model
RGD
PMID:14692702 PMID:15831233 PMID:16489031
RGD:151660504 RGD:151660507 RGD:151664746
NCBI chr11:66,095,445...66,222,402
Ensembl chr11:66,101,038...66,221,982
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RB1
RB transcriptional corepressor 1
severity
ISO
DNA:hypermethylation:promoter:
RGD
PMID:11204276
RGD:13782067
NCBI chr 3:26,220,783...26,393,671
Ensembl chr 3:26,220,803...26,394,546
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RECK
reversion inducing cysteine rich protein with kazal motifs
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:20127710
NCBI chr12:44,431,807...44,517,893
Ensembl chr12:44,431,615...44,517,810
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RPL35A
ribosomal protein L35a
ISO
mRNA:increased expression:brain (human)
RGD
PMID:10880769
RGD:11535077
NCBI chr15:91,666,800...91,672,138
Ensembl chr15:91,666,236...91,674,881
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RPL5
ribosomal protein L5
ISO
DNA:mutations:multiple (human)
RGD
PMID:26892688
RGD:11535147
NCBI chr20:40,416,553...40,427,027
Ensembl chr20:40,413,897...40,427,060
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RUNX3
RUNX family transcription factor 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16909125
NCBI chr20:107,769,244...107,802,154
Ensembl chr20:107,736,683...107,802,307
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SEPTIN14
septin 14
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23917401
NCBI chr21:2,920,114...2,989,257
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SERPING1
serpin family G member 1
treatment
ISO
RGD
PMID:28880870
RGD:13525003
NCBI chr 1:15,617,122...15,634,540
Ensembl chr 1:15,616,674...15,633,855
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SLC7A5
solute carrier family 7 member 5
disease_progression
ISO
RGD
PMID:16496379
RGD:151361115
NCBI chr 5:73,229,953...73,269,801
Ensembl chr 5:73,229,951...73,269,754
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SLX4
SLX4 structure-specific endonuclease subunit
ISO
ClinVar Annotator: match by term: Glioblastoma multiforme
ClinVar
PMID:25741868
NCBI chr 5:3,281,468...3,308,296
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SRRT
serrate, RNA effector molecule
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30542699
NCBI chr28:12,336,666...12,351,084
Ensembl chr28:12,333,884...12,349,901
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STAT3
signal transducer and activator of transcription 3
disease_progression
ISO
mRNA, protein:increased expression:brain (human)
RGD
PMID:31783691
RGD:151667907
NCBI chr16:63,877,884...63,957,894
Ensembl chr16:63,922,862...63,957,984
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STAT5A
signal transducer and activator of transcription 5A
disease_progression treatment
ISO
mRNA, protein:increased expression:brain (human) human cells in mouse model
RGD
PMID:31783691
RGD:151667907
NCBI chr16:63,959,265...63,986,627
Ensembl chr16:63,960,515...63,985,026
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SUZ12
SUZ12 polycomb repressive complex 2 subunit
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25119042
NCBI chr16:25,413,928...25,474,311
Ensembl chr16:25,413,954...25,476,479
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TES
testin LIM domain protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16909125
NCBI chr21:84,913,067...84,963,290
Ensembl chr21:84,913,093...84,963,303
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TGM2
transglutaminase 2
ISO
CTD Direct Evidence: marker/mechanism|therapeutic
CTD
PMID:16170020 PMID:17099729
NCBI chr 2:25,585,827...25,623,961
Ensembl chr 2:25,585,865...25,624,280
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TMEM135
transmembrane protein 135
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30705370
NCBI chr 1:78,285,287...78,539,607
Ensembl chr 1:78,285,376...78,541,905
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TNC
tenascin C
ISO
RGD
PMID:16928692
RGD:4889612
NCBI chr12:24,457,616...24,556,194
Ensembl chr12:24,457,738...24,556,451
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TNFSF10
TNF superfamily member 10
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:21877938
NCBI chr15:16,934,982...16,953,155
Ensembl chr15:16,934,962...16,954,860
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TP53
tumor protein p53
ISO
ClinVar Annotator: match by term: Glioblastoma | ClinVar Annotator: match by term: Glioblastoma, somatic
ClinVar
PMID:253702 PMID:960674 PMID:1349175 PMID:1467311 PMID:1565143 PMID:1565144 PMID:1591732 PMID:1631137 PMID:1679237 PMID:1683921 PMID:1975675 PMID:1978757 PMID:1999338 PMID:2046748 PMID:2259385 PMID:2531845 PMID:2554494 PMID:2654466 PMID:2750177 PMID:3784963 PMID:4122735 PMID:6736287 PMID:7478555 PMID:7565304 PMID:7651740 PMID:7707106 PMID:7718482 PMID:7732013 PMID:7737263 PMID:7761089 PMID:7783166 PMID:7791795 PMID:7885831 PMID:7887414 PMID:8001119 PMID:8023157 PMID:8062826 PMID:8080050 PMID:8099841 PMID:8118819 PMID:8164043 PMID:8242752 PMID:8276238 PMID:8308926 PMID:8336941 PMID:8401536 PMID:8402598 PMID:8423216 PMID:8425176 PMID:8479749 PMID:8527048 PMID:8550239 PMID:8633021 PMID:8649776 PMID:8718514 PMID:8825920 PMID:8829627 PMID:8843196 PMID:8869100 PMID:9020384 PMID:9047394 PMID:9049183 PMID:9049184 PMID:9150393 PMID:9157982 PMID:9218725 PMID:9242456 PMID:9268986 PMID:9290701 PMID:9364015 PMID:9399838 PMID:9407971 PMID:9446663 PMID:9525742 PMID:9536098 PMID:9546439 PMID:9569050 PMID:9572492 PMID:9598730 PMID:9607760 PMID:9632751 PMID:9662334 PMID:9667734 PMID:9681828 PMID:9704930 PMID:9825943 PMID:9839505 PMID:9891044 PMID:10064694 PMID:10089074 PMID:10229196 PMID:10411893 PMID:10432928 PMID:10519380 PMID:10567903 PMID:10589545 PMID:10616528 PMID:10629033 PMID:10713666 PMID:10761705 PMID:10797439 PMID:10802655 PMID:10864200 PMID:10871862 PMID:10922393 PMID:10949938 PMID:11051239 PMID:11101847 PMID:11139324 PMID:11152481 PMID:11180592 PMID:11370630 PMID:11403041 PMID:11420676 PMID:11429705 PMID:11479205 PMID:11590071 PMID:11593407 PMID:11668501 PMID:11782540 PMID:11793474 PMID:11896595 PMID:11920788 PMID:11920959 PMID:12007217 PMID:12034820 PMID:12406399 PMID:12506399 PMID:12509279 PMID:12567188 PMID:12619118 PMID:12672316 PMID:12695689 PMID:12700230 PMID:12726864 PMID:12826609 PMID:12885464 PMID:12909720 PMID:12917626 PMID:14584079 PMID:14673037 PMID:14743206 PMID:15004724 PMID:15017592 PMID:15037740 PMID:15077194 PMID:15355915 PMID:15381368 PMID:15390294 PMID:15541116 PMID:15607980 PMID:15607981 PMID:15722483 PMID:15781620 PMID:15825182 PMID:15850016 PMID:15925506 PMID:15951970 PMID:15958617 PMID:15977174 PMID:15982667 PMID:16199549 PMID:16206219 PMID:16209708 PMID:16258005 PMID:16312222 PMID:16322298 PMID:16337994 PMID:16401470 PMID:16489069 PMID:16492679 PMID:16494995 PMID:16508005 PMID:16551709 PMID:16633321 PMID:16682957 PMID:16736287 PMID:16778209 PMID:16818505 PMID:16827139 PMID:16861262 PMID:16964264 PMID:17015838 PMID:17170001 PMID:17308077 PMID:17311302 PMID:17390010 PMID:17401428 PMID:17417627 PMID:17427234 PMID:17530187 PMID:17535973 PMID:17540308 PMID:17541742 PMID:17567834 PMID:17572079 PMID:17576681 PMID:17599946 PMID:17606709 PMID:17636407 PMID:17638920 PMID:17724467 PMID:17875924 PMID:17881637 PMID:17999388 PMID:18208484 PMID:18307025 PMID:18391940 PMID:18453682 PMID:18511570 PMID:18555592 PMID:18628487 PMID:18685109 PMID:18818522 PMID:18937320 PMID:18989156 PMID:19012332 PMID:19101993 PMID:19127115 PMID:19147582 PMID:19171880 PMID:19336573 PMID:19367287 PMID:19367569 PMID:19378321 PMID:19405127 PMID:19454241 PMID:19462533 PMID:19468865 PMID:19521721 PMID:19556618 PMID:19681600 PMID:19850740 PMID:19881536 PMID:19913028 PMID:19930417 PMID:20013323 PMID:20028212 PMID:20113312 PMID:20127978 PMID:20128691 PMID:20182602 PMID:20234365 PMID:20364130 PMID:20407015 PMID:20505364 PMID:20506564 PMID:20516128 PMID:20520810 PMID:20522432 PMID:20586629 PMID:20589832 PMID:20593220 PMID:20689556 PMID:20693561 PMID:20805372 PMID:20878954 PMID:20972454 PMID:21059199 PMID:21113594 PMID:21115975 PMID:21118481 PMID:21159183 PMID:21187651 PMID:21188122 PMID:21232794 PMID:21305319 PMID:21343334 PMID:21348412 PMID:21356188 PMID:21445056 PMID:21484931 PMID:21514416 PMID:21519010 PMID:21535297 PMID:21552135 PMID:21590121 PMID:21601526 PMID:21619694 PMID:21626334 PMID:21672450 PMID:21674059 PMID:21747090 PMID:21761402 PMID:22006311 PMID:22052707 PMID:22110706 PMID:22170717 PMID:22186996 PMID:22198284 PMID:22233476 PMID:22265402 PMID:22319594 PMID:22427690 PMID:22484423 PMID:22553421 PMID:22672556 PMID:22698404 PMID:22703879 PMID:22710932 PMID:22713868 PMID:22729912 PMID:22744426 PMID:22768918 PMID:22811390 PMID:22822097 PMID:22869713 PMID:22887876 PMID:22915647 PMID:22919068 PMID:22923379 PMID:22955915 PMID:22983585 PMID:23031740 PMID:23161690 PMID:23172776 PMID:23246812 PMID:23259501 PMID:23263379 PMID:23406775 PMID:23484829 PMID:23538418 PMID:23612969 PMID:23624782 PMID:23630318 PMID:23667202 PMID:23713777 PMID:23792586 PMID:23887774 PMID:23894400 PMID:23939625 PMID:23950206 PMID:24033266 PMID:24038938 PMID:24065105 PMID:24122735 PMID:24307375 PMID:24381225 PMID:24382691 PMID:24384472 PMID:24487413 PMID:24501221 PMID:24549055 PMID:24573247 PMID:24590827 PMID:24603336 PMID:24641375 PMID:24651012 PMID:24651015 PMID:24677579 PMID:24702488 PMID:24728327 PMID:24810334 PMID:24835218 PMID:24857548 PMID:25059482 PMID:25119136 PMID:25157968 PMID:25186627 PMID:25256166 PMID:25293557 PMID:25294809 PMID:25339994 PMID:25381062 PMID:25404506 PMID:25433984 PMID:25503501 PMID:25504633 PMID:25525159 PMID:25584008 PMID:25584637 PMID:25612911 PMID:25619955 PMID:25634208 PMID:25669829 PMID:25691460 PMID:25741868 PMID:25765855 PMID:25787918 PMID:25896519 PMID:25925845 PMID:25927356 PMID:25945745 PMID:25952993 PMID:25961455 PMID:25980754 PMID:26014290 PMID:26022348 PMID:26024390 PMID:26066407 PMID:26205489 PMID:26225655 PMID:26230955 PMID:26270727 PMID:26271412 PMID:26332594 PMID:26425688 PMID:26467025 PMID:26497680 PMID:26556299 PMID:26580448 PMID:26585234 PMID:26619011 PMID:26628864 PMID:26681312 PMID:26781615 PMID:26786923 PMID:26787237 PMID:26818906 PMID:26822237 PMID:26845104 PMID:26878390 PMID:26911350 PMID:26976419 PMID:27022024 PMID:27050224 PMID:27077130 PMID:27146902 PMID:27153395 PMID:27179933 PMID:27189670 PMID:27276561 PMID:27276934 PMID:27374712 PMID:27463065 PMID:27493922 PMID:27501770 PMID:27516001 PMID:27523101 PMID:27533082 PMID:27557517 PMID:27616075 PMID:27621308 PMID:27680515 PMID:27683180 PMID:27714481 PMID:27724982 PMID:27813088 PMID:27895058 PMID:27959731 PMID:27993330 PMID:28135145 PMID:28152038 PMID:28160093 PMID:28166194 PMID:28279309 PMID:28349240 PMID:28369373 PMID:28453743 PMID:28472496 PMID:28477316 PMID:28492532 PMID:28664506 PMID:28724667 PMID:28802053 PMID:28861920 PMID:28873162 PMID:28975465 PMID:29025599 PMID:29058119 PMID:29070607 PMID:29076966 PMID:29126202 PMID:29300620 PMID:29324801 PMID:29470806 PMID:29478780 PMID:29489754 PMID:29581140 PMID:29752822 PMID:29753700 PMID:29958926 PMID:29979965 PMID:30076369 PMID:30099178 PMID:30107858 PMID:30128536 PMID:30216591 PMID:30224644 PMID:30287823 PMID:30299350 PMID:30306255 PMID:30311369 PMID:30322717 PMID:30327374 PMID:30352134 PMID:30450585 PMID:30546832 PMID:30583724 PMID:30630526 PMID:30675318 PMID:30709381 PMID:30709875 PMID:30720243 PMID:30730202 PMID:30816478 PMID:30840781 PMID:30918304 PMID:31016814 PMID:31105275 PMID:31119730 PMID:31127191 PMID:31168460 PMID:31206626 PMID:31296311 PMID:31321604 PMID:31494577 PMID:31533767 PMID:31748977 PMID:31775759 PMID:31881331 PMID:31882575 PMID:31983162 PMID:32000721 PMID:32019277 PMID:32126783 PMID:32156018 PMID:32164171 PMID:32179180 PMID:32187361 PMID:32295079 PMID:32318955 PMID:32371905 PMID:32475984 PMID:32658383 PMID:32817165 PMID:32888145 PMID:32906206 PMID:32959997 PMID:32980694 PMID:33087929 PMID:33138793 PMID:33163847 PMID:33208383 PMID:33245408 PMID:33257846 PMID:33300245 PMID:33332384 PMID:33372952 PMID:33407742 PMID:33471991 PMID:33633026 PMID:33818021 PMID:33840814 PMID:34026625 PMID:34088725 PMID:34240179 PMID:34308366 PMID:34503094 PMID:34529667 PMID:34675114 PMID:34709361 PMID:34793666 PMID:34994652 PMID:35033608 PMID:35043155 PMID:35127508 PMID:35264596 PMID:35802772 PMID:35820297 PMID:35938033 PMID:35974385 PMID:36008825 PMID:36168441 PMID:36219266 PMID:36309086 PMID:36329109 PMID:36988593 More...
NCBI chr16:7,047,686...7,065,567
Ensembl chr16:7,045,146...7,066,223
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TP53BP1
tumor protein p53 binding protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30705370
NCBI chr26:39,489,925...39,595,096
Ensembl chr26:39,508,600...39,594,927
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TRMT11
tRNA methyltransferase 11 homolog
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30705370
NCBI chr13:47,680,321...47,735,103
Ensembl chr13:47,680,332...47,734,857
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VEGFA
vascular endothelial growth factor A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16356833
NCBI chr17:28,377,959...28,394,508
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WT1
WT1 transcription factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20820871
NCBI chr 1:32,750,300...32,801,832
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XRCC1
X-ray repair cross complementing 1
susceptibility
ISO
DNA:SNP:exon 10: p.R399Q (human)
RGD
PMID:18330515
RGD:401827274
NCBI chr 6:37,062,149...37,095,138
Ensembl chr 6:37,060,439...37,095,094
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ZBTB7A
zinc finger and BTB domain containing 7A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25875864
NCBI chr 6:3,802,171...3,824,552
Ensembl chr 6:3,801,046...3,812,884
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RB1
RB transcriptional corepressor 1
ISO
RNA:decreased expression:brain:
RGD
PMID:22157621
RGD:13782062
NCBI chr 3:26,220,783...26,393,671
Ensembl chr 3:26,220,803...26,394,546
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CCL2
C-C motif chemokine ligand 2
severity
ISO
mouse gene in a rat model
RGD
PMID:7489565
RGD:11526112
NCBI chr16:27,763,354...27,765,437
Ensembl chr16:27,763,555...27,765,416
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CYP2B6
cytochrome P450 family 2 subfamily B member 6
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:9766669 PMID:11389073
NCBI chr 6:35,392,699...35,418,171
Ensembl chr 6:35,393,342...35,418,106
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CYP2C18
cytochrome P450 family 2 subfamily C member 18
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:9766669
NCBI chr 9:87,881,444...87,941,586
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LOC103246654
NADPH--cytochrome P450 reductase
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:9766669
NCBI chr28:10,145,070...10,230,836
Ensembl chr28:10,197,503...10,230,468
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PLAU
plasminogen activator, urokinase
severity
ISO
mouse gene in rat model
RGD
PMID:20606645
RGD:7241591
NCBI chr 9:57,452,904...57,459,345
Ensembl chr 9:57,452,761...57,459,286
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PTGS1
prostaglandin-endoperoxide synthase 1
ISO
protein:increased expression:microglia, macrophage,
RGD
PMID:10229132
RGD:5688250
NCBI chr12:17,195,403...17,218,450
Ensembl chr12:17,192,628...17,218,315
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PTGS2
prostaglandin-endoperoxide synthase 2
ISO
protein:increased expression:endothelial cell
RGD
PMID:10229132
RGD:5688250
NCBI chr25:42,733,535...42,742,463
Ensembl chr25:42,734,771...42,742,429
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VEGFA
vascular endothelial growth factor A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16533777
NCBI chr17:28,377,959...28,394,508
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PALB2
partner and localizer of BRCA2
ISO
ClinVar Annotator: match by term: Malignant 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...
NCBI chr 5:21,322,952...21,358,363
Ensembl chr 5:21,322,975...21,358,198
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DICER1
dicer 1, ribonuclease III
ISO
ClinVar Annotator: match by term: High-grade astrocytoma with piloid features
ClinVar
PMID:25741868 PMID:28492532
NCBI chr24:72,915,550...72,986,658
Ensembl chr24:72,915,499...72,963,006
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POT1
protection of telomeres 1
ISO
ClinVar Annotator: match by term: High-grade astrocytoma with piloid features
ClinVar
PMID:25741868 PMID:28492532 PMID:32155570
NCBI chr21:93,572,139...93,688,374
Ensembl chr21:93,571,272...93,655,869
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PHOX2B
paired like homeobox 2B
ISO
ClinVar Annotator: match by term: Hirschsprung disease ganglioneuroblastoma
ClinVar
PMID:11953745 PMID:12438263 PMID:15024693 PMID:15338462 PMID:17637745 PMID:20089899 PMID:23754957 PMID:23873030 More...
NCBI chr27:8,602,764...8,608,052
Ensembl chr27:8,603,484...8,606,299
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ATM
ATM serine/threonine kinase
ISO
ClinVar Annotator: match by term: Astrocytoma IDH-mutant
ClinVar
PMID:19404735 PMID:19781682 PMID:20305132 PMID:23555315 PMID:25085752 PMID:25186627 PMID:25503501 PMID:25741868 PMID:26467025 PMID:26580448 PMID:26901136 PMID:28135145 PMID:28492532 PMID:28652578 PMID:28717660 PMID:28779002 PMID:29659569 PMID:30256826 PMID:30303537 PMID:30613976 PMID:31159747 PMID:31742824 PMID:32113160 PMID:32522261 PMID:33471991 PMID:34262154 PMID:34646395 PMID:35264596 PMID:37262986 More...
NCBI chr 1:99,653,208...99,786,889
Ensembl chr 1:99,653,139...99,791,520
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CUNH11orf65
chromosome unknown C11orf65 homolog
ISO
ClinVar Annotator: match by term: Astrocytoma IDH-mutant
ClinVar
PMID:19404735 PMID:19781682 PMID:20305132 PMID:23555315 PMID:25085752 PMID:25186627 PMID:25503501 PMID:25741868 PMID:26467025 PMID:26580448 PMID:26901136 PMID:28135145 PMID:28492532 PMID:28652578 PMID:28717660 PMID:28779002 PMID:29659569 PMID:30256826 PMID:30303537 PMID:30613976 PMID:31159747 PMID:31742824 PMID:32113160 PMID:32522261 PMID:33471991 PMID:34262154 PMID:34646395 PMID:35264596 PMID:37262986 More...
NCBI chr 1:99,804,191...99,879,834
Ensembl chr 1:99,804,218...99,827,182
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EPCAM
epithelial cell adhesion molecule
ISO
ClinVar Annotator: match by term: Astrocytoma IDH-mutant
ClinVar
PMID:25741868
NCBI chr14:59,815,128...59,832,360
Ensembl chr14:59,815,064...59,832,229
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MLH3
mutL homolog 3
ISO
ClinVar Annotator: match by term: Astrocytoma IDH-mutant
ClinVar
PMID:25741868
NCBI chr24:52,231,468...52,266,179
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NF1
neurofibromin 1
ISO
ClinVar Annotator: match by term: Astrocytoma IDH-mutant
ClinVar
PMID:25741868 PMID:28492532
NCBI chr16:24,550,983...24,836,311
Ensembl chr16:24,550,977...24,836,307
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RAD54L
RAD54 like
ISO
ClinVar Annotator: match by term: Astrocytoma IDH-mutant
ClinVar
PMID:25741868
NCBI chr20:86,510,616...86,542,426
Ensembl chr20:86,507,248...86,542,663
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BRCA1
BRCA1 DNA repair associated
ISO
ClinVar Annotator: match by term: Infant-type hemispheric glioma
ClinVar
PMID:9609997 PMID:19543972 PMID:21990134 PMID:21990165 PMID:24489791 PMID:25452441 PMID:25741868 PMID:25823446 PMID:26467025 PMID:27225819 PMID:27741520 PMID:28492532 PMID:28888541 PMID:29339979 PMID:29446198 PMID:29506128 PMID:29854283 PMID:29907814 PMID:30209399 PMID:30219179 PMID:30339520 PMID:30696104 PMID:32380732 PMID:32438681 PMID:34572941 More...
NCBI chr16:63,162,827...63,243,928
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ACVR1
activin A receptor type 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24705250
NCBI chr10:43,139,396...43,281,024
Ensembl chr10:43,139,528...43,281,177
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AKT1
AKT serine/threonine kinase 1
disease_progression
ISO
RGD
PMID:19240976
RGD:5509079
NCBI chr24:82,704,087...82,730,711
Ensembl chr24:82,704,068...82,727,698
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AKT2
AKT serine/threonine kinase 2
severity
ISO
RGD
PMID:20167810
RGD:13674163
NCBI chr 6:34,688,585...34,740,458
Ensembl chr 6:34,690,462...34,720,781
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AKT3
AKT serine/threonine kinase 3
severity
ISO
RGD
PMID:20167810
RGD:13674163
NCBI chr25:80,509,701...80,878,792
Ensembl chr25:80,515,168...80,816,018
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ANXA1
annexin A1
ISO
associated with Tuberous Sclerosis;mRNA:increased expression:brain
RGD
PMID:20133820
RGD:7421564
NCBI chr12:84,207,818...84,226,438
Ensembl chr12:84,207,820...84,226,562
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AR
androgen receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24680642
NCBI chr X:57,380,587...57,553,613
Ensembl chr X:57,380,611...57,546,776
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ATRX
ATRX chromatin remodeler
severity disease_progression
ISO
ClinVar Annotator: match by term: Malignant astrocytoma
RGD ClinVar
PMID:7697714 PMID:8968741 PMID:18414213 PMID:22995991 PMID:23765250 PMID:24082139 PMID:24728327 PMID:24810474 PMID:25741868 PMID:26467025 PMID:28293299 PMID:28492530 PMID:28492532 PMID:29304373 PMID:29602769 PMID:29910053 More...
RGD:11040585 RGD:9586026
NCBI chr X:66,449,830...66,737,220
Ensembl chr X:66,448,449...66,737,164
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BRAF
B-Raf proto-oncogene, serine/threonine kinase
onset
ISO
DNA:rearrangement: : DNA:mutation:cds:p.V600E(human) CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:19794125 PMID:23817572 PMID:25346165
RGD:11069832 RGD:11567238
NCBI chr21:109,495,525...109,690,261
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BRD7
bromodomain containing 7
severity
ISO
protein:increased expression:brain:
RGD
PMID:24404152
RGD:9586441
NCBI chr 5:36,114,951...36,168,786
Ensembl chr 5:36,112,289...36,168,728
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BST2
bone marrow stromal cell antigen 2
severity
ISO
RGD
PMID:21565182
RGD:14398497
NCBI chr 6:15,900,396...15,903,072
Ensembl chr 6:15,900,011...15,903,060
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CADM2
cell adhesion molecule 2
severity
ISO
protein:decreased expression:brain
RGD
PMID:30816549
RGD:19165125
NCBI chr22:90,879,537...91,994,144
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CAMK2G
calcium/calmodulin dependent protein kinase II gamma
disease_progression
ISO
RGD
PMID:12937144
RGD:13702480
NCBI chr 9:57,498,384...57,559,724
Ensembl chr 9:57,498,429...57,559,811
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CCND1
cyclin D1
severity
ISO
RGD
PMID:10419598
RGD:13681931
NCBI chr 1:4,909,616...4,922,272
Ensembl chr 1:4,907,353...4,922,357
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DLL3
delta like canonical Notch ligand 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21127729
NCBI chr 6:34,102,433...34,114,558
Ensembl chr 6:34,103,854...34,114,103
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DOK2
docking protein 2
disease_progression
ISO
mRNA,protein:increased expression, increased phosphorylation:astrocytoma (human)
RGD
PMID:27975172
RGD:152177494
NCBI chr 8:19,979,303...19,984,022
Ensembl chr 8:19,979,298...19,984,263
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ESR1
estrogen receptor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24680642
NCBI chr13:79,153,418...79,554,552
Ensembl chr13:79,270,265...79,554,549
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ESR2
estrogen receptor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24680642
NCBI chr24:41,426,333...41,513,802
Ensembl chr24:41,447,224...41,512,486
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FGFR1
fibroblast growth factor receptor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23817572
NCBI chr 8:36,426,116...36,485,683
Ensembl chr 8:36,427,110...36,485,508
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FUBP1
far upstream element binding protein 1
ISO
mRNA:increased expression:brain (human)
RGD
PMID:32481602
RGD:151361197
NCBI chr20:55,194,681...55,233,666
Ensembl chr20:55,194,743...55,230,277
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G3BP1
G3BP stress granule assembly factor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27106762
NCBI chr23:54,335,996...54,369,956
Ensembl chr23:54,336,113...54,368,674
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GSTP1
glutathione S-transferase pi 1
susceptibility
ISO
DNA:polymorphism:exon:p.A114V (human)
RGD
PMID:12241105
RGD:5490125
NCBI chr 1:6,676,897...6,679,936
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HEY1
hes related family bHLH transcription factor with YRPW motif 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21127729
NCBI chr 8:75,225,081...75,228,941
Ensembl chr 8:75,224,769...75,228,896
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HEY2
hes related family bHLH transcription factor with YRPW motif 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21127729
NCBI chr13:47,965,808...47,977,435
Ensembl chr13:47,964,847...47,977,346
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HGF
hepatocyte growth factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11223164
NCBI chr21:67,118,785...67,193,506
Ensembl chr21:67,120,722...67,193,504
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HIF1A
hypoxia inducible factor 1 subunit alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15341671
NCBI chr24:38,873,830...38,927,657
Ensembl chr24:38,873,861...38,928,288
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HRAS
HRas proto-oncogene, GTPase
ISO
MouseDO
NCBI chr 1:343,613...345,782
Ensembl chr 1:343,506...346,637
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IL16
interleukin 16
ISO
protein:increased expression:brain
RGD
PMID:17221335
RGD:5024941
NCBI chr26:2,080,985...2,208,764
Ensembl chr26:2,077,228...2,208,431
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KIAA1549
KIAA1549 ortholog
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23817572
NCBI chr21:107,542,927...107,690,278
Ensembl chr21:107,544,023...107,630,030
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KRAS
KRAS proto-oncogene, GTPase
susceptibility
ISO
sporadic pilocytic astrocytoma, OMIM:137800 DNA:transversion:CDS:amino acid G13R CTD Direct Evidence: marker/mechanism DNA:mutation:cds:p.G12D(mouse)
RGD CTD
PMID:16247081 PMID:23817572 PMID:24038521
RGD:13702858 RGD:1600476
NCBI chr11:24,963,396...25,010,747
Ensembl chr11:24,973,619...25,005,191
G
LATS1
large tumor suppressor kinase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17049657
NCBI chr13:21,901,153...21,966,227
Ensembl chr13:21,919,280...21,967,117
G
LATS2
large tumor suppressor kinase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17049657
NCBI chr 3:124,520...215,426
G
LOC103224275
glutathione S-transferase Mu 1
severity
ISO
DNA:deletion: :
RGD
PMID:12241105
RGD:5490125
NCBI chr20:23,854,969...23,861,634
G
LOC103237529
adhesion G protein-coupled receptor B1
severity
ISO
RGD
PMID:23761815
RGD:13831356
NCBI chr 8:136,704,318...136,784,581
Ensembl chr 8:136,704,341...136,783,991
G
MAP2K3
mitogen-activated protein kinase kinase 3
ISO
protein:increased expression, increased phosphorylation:brain
RGD
PMID:17406030
RGD:1641940
NCBI chr16:19,396,377...19,427,617
Ensembl chr16:19,396,452...19,427,652
G
MET
MET proto-oncogene, receptor tyrosine kinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11223164
NCBI chr21:85,370,574...85,486,405
Ensembl chr21:85,397,645...85,488,093
G
MMP3
matrix metallopeptidase 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20188714
NCBI chr 1:94,216,156...94,224,437
Ensembl chr 1:94,216,173...94,224,264
G
MMP9
matrix metallopeptidase 9
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20188714
NCBI chr 2:17,867,267...17,874,757
Ensembl chr 2:17,867,177...17,874,712
G
MRE11
MRE11 homolog, double strand break repair nuclease
severity
ISO
mRNA:decreased expression:brain tumor (human)
RGD
PMID:17034947
RGD:2317736
NCBI chr 1:85,615,448...85,694,247
Ensembl chr 1:85,610,819...85,694,269
G
NCOA3
nuclear receptor coactivator 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24680642
NCBI chr 2:16,270,218...16,423,381
Ensembl chr 2:16,273,717...16,423,318
G
NDRG1
N-myc downstream regulated 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15341671
NCBI chr 8:127,668,012...127,727,918
Ensembl chr 8:127,667,981...127,719,011
G
NEDD8
NEDD8 ubiquitin like modifier
ISO
RGD
PMID:12533840
RGD:1549458
NCBI chr24:1,199,974...1,215,079
G
NF1
neurofibromin 1
ISO
protein:decreased expression:brain: CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:10931370 PMID:10973261 PMID:20176786 PMID:23817572
RGD:12743656 RGD:1302542
NCBI chr16:24,550,983...24,836,311
Ensembl chr16:24,550,977...24,836,307
G
NOTCH1
notch receptor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21127729
NCBI chr12:1,656,815...1,707,566
Ensembl chr12:1,656,918...1,709,585
G
NOTCH2
notch receptor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21127729
NCBI chr20:13,712,140...13,871,777
Ensembl chr20:13,712,292...13,871,784
G
NTRK2
neurotrophic receptor tyrosine kinase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23817572
NCBI chr12:95,477,612...95,836,734
Ensembl chr12:95,479,447...95,620,364
G
PCMT1
protein-L-isoaspartate (D-aspartate) O-methyltransferase
ISO
protein:decreased expression,decreased activity:brain:
RGD
PMID:15857672
RGD:10448283
NCBI chr13:21,808,583...21,867,309
Ensembl chr13:21,807,710...21,866,768
G
PTPN11
protein tyrosine phosphatase non-receptor type 11
ISO
ClinVar Annotator: match by term: Astrocytic tumor
ClinVar
PMID:15985475 PMID:18470943 PMID:20186801 PMID:22781091 PMID:23624134 PMID:25741868 PMID:28492532 PMID:28650561 PMID:30311386 PMID:32737134 More...
NCBI chr11:107,658,495...107,754,457
Ensembl chr11:107,658,453...107,752,637
G
SLC7A5
solute carrier family 7 member 5
disease_progression
ISO
RGD
PMID:16496379
RGD:151361115
NCBI chr 5:73,229,953...73,269,801
Ensembl chr 5:73,229,951...73,269,754
G
TIAL1
TIA1 cytotoxic granule associated RNA binding protein like 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27106762
NCBI chr 9:112,355,900...112,379,531
Ensembl chr 9:112,358,101...112,379,671
G
TP53
tumor protein p53
susceptibility
ISO
DNA:nonsense mutation:cds: ClinVar Annotator: match by term: Malignant astrocytoma
RGD 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:24038521 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...
RGD:13702858
NCBI chr16:7,047,686...7,065,567
Ensembl chr16:7,045,146...7,066,223
G
ANK3
ankyrin 3
ISO
ClinVar Annotator: match by term: Classic medulloblastoma
ClinVar
NCBI chr 9:70,549,665...71,253,928
Ensembl chr 9:70,893,260...71,254,245
G
APC
APC regulator of WNT signaling pathway
ISO
associated with Adenomatous Polyposis Coli;DNA:mutations: : CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:7661930 PMID:17238184
RGD:6484523
NCBI chr23:15,992,437...16,135,117
Ensembl chr23:16,042,287...16,137,067
G
ARID1A
AT-rich interaction domain 1A
ISO
ClinVar Annotator: match by term: Medulloblastoma
ClinVar
PMID:26822237
NCBI chr20:105,981,549...106,066,093
Ensembl chr20:105,981,290...106,065,672
G
ARID1B
AT-rich interaction domain 1B
ISO
ClinVar Annotator: match by term: Medulloblastoma
ClinVar
PMID:25741868 PMID:26822237
NCBI chr13:84,351,298...84,799,691
G
ATOH1
atonal bHLH transcription factor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18347096
NCBI chr 7:42,098,057...42,104,910
Ensembl chr 7:42,100,996...42,102,060
G
BAP1
BRCA1 associated deubiquitinase 1
ISO
ClinVar Annotator: match by term: Medulloblastoma
ClinVar
PMID:24970262 PMID:25741868 PMID:26719535 PMID:28492532 PMID:29641532 PMID:32068069 More...
NCBI chr22:13,765,510...13,774,866
Ensembl chr22:13,764,686...13,774,740
G
BRCA2
BRCA2 DNA repair associated
ISO
ClinVar Annotator: match by term: MEDULLOBLASTOMA PREDISPOSITION SYNDROME | ClinVar Annotator: match by term: Medulloblastoma
OMIM ClinVar
PMID:251866 PMID:278235 PMID:2661312 PMID:8589730 PMID:8673090 PMID:8988179 PMID:9150154 PMID:9150172 PMID:9150174 PMID:9361038 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:11039575 PMID:11062481 PMID:11149425 PMID:11179017 PMID:11207042 PMID:11251181 PMID:11307153 PMID:11389159 PMID:11400546 PMID:11504767 PMID:11556836 PMID:11597388 PMID:11754111 PMID:11802209 PMID:11897832 PMID:11927503 PMID:11929857 PMID:12065746 PMID:12097290 PMID:12142080 PMID:12181777 PMID:12204006 PMID:12215251 PMID:12373604 PMID:12474142 PMID:12556369 PMID:12655567 PMID:12955716 PMID:12960223 PMID:14555511 PMID:14559878 PMID:14647210 PMID:14670928 PMID:15024741 PMID:15026808 PMID:15070707 PMID:15117986 PMID:15131399 PMID:15146557 PMID:15168169 PMID:15235023 PMID:15290653 PMID:15340362 PMID:15382066 PMID:15548363 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:16792514 PMID:16825431 PMID:16847550 PMID:16905680 PMID:16912212 PMID:16920162 PMID:16931905 PMID:16978908 PMID:17011978 PMID:17063270 PMID:17100994 PMID:17148771 PMID:17262179 PMID:17301269 PMID:17453335 PMID:17513806 PMID:17574839 PMID:17576681 PMID:17636422 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:18724707 PMID:18752448 PMID:18821011 PMID:18951461 PMID:19016756 PMID:19043619 PMID:19241424 PMID:19353265 PMID:19491284 PMID:19499246 PMID:19530235 PMID:19620486 PMID:19656164 PMID:19861517 PMID:19863560 PMID:19941162 PMID:19949876 PMID:19967274 PMID:20033483 PMID:20104584 PMID:20135345 PMID:20167696 PMID:20215541 PMID:20373018 PMID:20383589 PMID:20406929 PMID:20616022 PMID:20694749 PMID:20736950 PMID:20858050 PMID:20960228 PMID:21120943 PMID:21232165 PMID:21324516 PMID:21356067 PMID:21394826 PMID:21497495 PMID:21520273 PMID:21523855 PMID:21548014 PMID:21559243 PMID:21643751 PMID:21673748 PMID:21702907 PMID:21719596 PMID:21735045 PMID:21918853 PMID:21952622 PMID:21990134 PMID:22006311 PMID:22009639 PMID:22085629 PMID:22109874 PMID:22144684 PMID:22217648 PMID:22382806 PMID:22399190 PMID:22430266 PMID:22460208 PMID:22476429 PMID:22486713 PMID:22505045 PMID:22535016 PMID:22632462 PMID:22666503 PMID:22682623 PMID:22703879 PMID:22752604 PMID:22762150 PMID:22798144 PMID:22848303 PMID:22875147 PMID:22895246 PMID:22923021 PMID:22970155 PMID:23028338 PMID:23035815 PMID:23096105 PMID:23096355 PMID:23108138 PMID:23110154 PMID:23146383 PMID:23199084 PMID:23231788 PMID:23318356 PMID:23451180 PMID:23469205 PMID:23479189 PMID:23569316 PMID:23621881 PMID:23683081 PMID:23725378 PMID:23767878 PMID:23884708 PMID:23929434 PMID:23942203 PMID:23961350 PMID:24010542 PMID:24013206 PMID:24033266 PMID:24052750 PMID:24055113 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:24735155 PMID:24737347 PMID:24814045 PMID:24817641 PMID:24884479 PMID:24916970 PMID:25066507 PMID:25085752 PMID:25146914 PMID:25186627 PMID:25233892 PMID:25236687 PMID:25256924 PMID:25274553 PMID:25330149 PMID:25348012 PMID:25371446 PMID:25382762 PMID:25395318 PMID:25428789 PMID:25447315 PMID:25452441 PMID:25476495 PMID:25480878 PMID:25525159 PMID:25556971 PMID:25628955 PMID:25637381 PMID:25639900 PMID:25682074 PMID:25685387 PMID:25716084 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:26207792 PMID:26219728 PMID:26250392 PMID:26287763 PMID:26295337 PMID:26300996 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:26709275 PMID:26733283 PMID:26757417 PMID:26786923 PMID:26834852 PMID:26845104 PMID:26852015 PMID:26933808 PMID:26968956 PMID:27000661 PMID:27060066 PMID:27062684 PMID:27124784 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:28127413 PMID:28176296 PMID:28179634 PMID:28243543 PMID:28281021 PMID:28283652 PMID:28294317 PMID:28324225 PMID:28339459 PMID:28349240 PMID:28423363 PMID:28476184 PMID:28477318 PMID:28492532 PMID:28503720 PMID:28541631 PMID:28657667 PMID:28664506 PMID:28692638 PMID:28715532 PMID:28724667 PMID:28782087 PMID:28802053 PMID:28825054 PMID:28831036 PMID:28905878 PMID:28918466 PMID:28993434 PMID:29020732 PMID:29061375 PMID:29084914 PMID:29088781 PMID:29161300 PMID:29176636 PMID:29192238 PMID:29202330 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:29395620 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:29945567 PMID:29988080 PMID:30014164 PMID:30078507 PMID:30093976 PMID:30122538 PMID:30128899 PMID:30192042 PMID:30199306 PMID:30203341 PMID:30254663 PMID:30262796 PMID:30274973 PMID:30287823 PMID:30309222 PMID:30309722 PMID:30322717 PMID:30350268 PMID:30415210 PMID:30425037 PMID:30472649 PMID:30548481 PMID:30606148 PMID:30612635 PMID:30623411 PMID:30630528 PMID:30652428 PMID:30696104 PMID:30702160 PMID:30720243 PMID:30720863 PMID:30736435 PMID:30787465 PMID:30792206 PMID:30825404 PMID:30875412 PMID:30972954 PMID:30982232 PMID:31090900 PMID:31112341 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:31409081 PMID:31411802 PMID:31444830 PMID:31447099 PMID:31451522 PMID:31569370 PMID:31589614 PMID:31642931 PMID:31721781 PMID:31742824 PMID:31782247 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:32489267 PMID:32521533 PMID:32532514 PMID:32571290 PMID:32581362 PMID:32606146 PMID:32658311 PMID:32710294 PMID:32719484 PMID:32720237 PMID:32772980 PMID:32778078 PMID:32806537 PMID:32824581 PMID:32846166 PMID:32853339 PMID:32856869 PMID:32862574 PMID:32875559 PMID:32885271 PMID:32923906 PMID:33008098 PMID:33087929 PMID:33113089 PMID:33293522 PMID:33309985 PMID:33372952 PMID:33461583 PMID:33471991 PMID:33478551 PMID:33608381 PMID:33609447 PMID:33629534 PMID:33670479 PMID:33773534 PMID:33801055 PMID:33850850 PMID:33918338 PMID:33964450 PMID:34008015 PMID:34022715 PMID:34097676 PMID:34196900 PMID:34235180 PMID:34298626 PMID:34399810 PMID:34413315 PMID:34567246 PMID:34597585 PMID:34645131 PMID:34657357 PMID:34657373 PMID:34687993 PMID:34717758 PMID:35220195 PMID:35264596 PMID:35353237 PMID:35451682 PMID:35535697 PMID:35714671 PMID:35753294 PMID:35875314 PMID:35949895 PMID:36119527 PMID:36232564 PMID:36329109 PMID:36370215 PMID:36988593 PMID:37349538 PMID:37461096 PMID:38417439 PMID:38922859 More...
NCBI chr 3:11,070,086...11,155,257
Ensembl chr 3:11,071,682...11,155,213
G
BRD2
bromodomain containing 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24231268
NCBI chr17:39,113,519...39,126,267
G
BRD3
bromodomain containing 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24231268
NCBI chr12:4,075,123...4,112,727
Ensembl chr12:4,089,621...4,109,441
G
BRD4
bromodomain containing 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24231268 PMID:31594641
NCBI chr 6:13,836,332...13,883,459
Ensembl chr 6:13,836,324...13,873,877
G
CCND1
cyclin D1
ISO
RGD
PMID:16943274
RGD:13681932
NCBI chr 1:4,909,616...4,922,272
Ensembl chr 1:4,907,353...4,922,357
G
CCNE1
cyclin E1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19270706
NCBI chr 6:24,879,923...24,888,985
G
CDK6
cyclin dependent kinase 6
disease_progression
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:16314645 PMID:19270706 PMID:23138228
RGD:13702096
NCBI chr21:56,167,731...56,403,976
Ensembl chr21:56,170,450...56,393,808
G
CDK9
cyclin dependent kinase 9
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:31594641
NCBI chr12:10,342,240...10,346,792
Ensembl chr12:10,342,801...10,346,502
G
CREBBP
CREB binding protein
ISO
ClinVar Annotator: match by term: MEDULLOBLASTOMA PREDISPOSITION SYNDROME
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...
NCBI chr 5:3,415,548...3,570,030
Ensembl chr 5:3,415,412...3,540,943
G
CTNNB1
catenin beta 1
ISO
ClinVar Annotator: match by term: MEDULLOBLASTOMA PREDISPOSITION SYNDROME | ClinVar Annotator: match by term: Medulloblastoma
OMIM ClinVar
PMID:9065402 PMID:9065403 PMID:9294210 PMID:9927029 PMID:10027390 PMID:10192393 PMID:10391090 PMID:10666372 PMID:11351304 PMID:11930117 PMID:11950921 PMID:12124804 PMID:15133491 PMID:19234609 PMID:23033978 PMID:23265383 PMID:24614104 PMID:25157968 PMID:25326635 PMID:25326669 PMID:25741868 PMID:26350204 PMID:26619011 PMID:26822237 PMID:27915094 PMID:27959697 PMID:28333917 PMID:28492532 PMID:28575650 PMID:31526516 More...
NCBI chr22:2,679,488...2,725,034
Ensembl chr22:2,684,022...2,723,949
G
DDX3X
DEAD-box helicase 3 X-linked
ISO
ClinVar Annotator: match by term: Medulloblastoma
ClinVar
PMID:26822237
NCBI chr X:38,513,251...38,539,982
Ensembl chr Y:689,380...706,092
G
DICER1
dicer 1, ribonuclease III
ISO
ClinVar Annotator: match by term: Medulloblastoma
ClinVar
PMID:25741868
NCBI chr24:72,915,550...72,986,658
Ensembl chr24:72,915,499...72,963,006
G
DNMT1
DNA methyltransferase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19155313
NCBI chr 6:9,199,006...9,263,890
Ensembl chr 6:9,199,003...9,263,607
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EHMT1
euchromatic histone lysine methyltransferase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19270706
NCBI chr12:380,041...545,333
Ensembl chr12:379,943...497,033
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ELP1
elongator acetyltransferase complex subunit 1
ISO
ClinVar Annotator: match by term: Medulloblastoma ClinVar Annotator: match by term: MEDULLOBLASTOMA PREDISPOSITION SYNDROME | ClinVar Annotator: match by term: Medulloblastoma
OMIM ClinVar
PMID:9536098 PMID:11179008 PMID:11179021 PMID:12116234 PMID:16199547 PMID:16964593 PMID:17206408 PMID:17576681 PMID:18303054 PMID:20301359 PMID:22190446 PMID:22850346 PMID:22975760 PMID:23515154 PMID:24033266 PMID:24173031 PMID:25741868 PMID:26392352 PMID:27065010 PMID:28492532 PMID:29289840 PMID:29762696 PMID:32296180 PMID:36413997 More...
NCBI chr12:30,620,685...30,687,583
Ensembl chr12:30,620,278...30,687,405
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EP300
E1A binding protein p300
ISO
ClinVar Annotator: match by term: Medulloblastoma
ClinVar
PMID:26619011
NCBI chr19:23,634,132...23,726,095
Ensembl chr19:23,634,571...23,724,979
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ERBB2
erb-b2 receptor tyrosine kinase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20168248
NCBI chr16:66,435,488...66,464,993
Ensembl chr16:66,434,251...66,464,952
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ESR2
estrogen receptor 2
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:21351254
NCBI chr24:41,426,333...41,513,802
Ensembl chr24:41,447,224...41,512,486
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FBXW7
F-box and WD repeat domain containing 7
ISO
ClinVar Annotator: match by term: MEDULLOBLASTOMA PREDISPOSITION SYNDROME
ClinVar
PMID:26619011
NCBI chr 7:98,894,261...99,105,955
Ensembl chr 7:98,892,504...99,106,084
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FGFR1
fibroblast growth factor receptor 1
ISO
ClinVar Annotator: match by term: Medulloblastoma
ClinVar
PMID:10766980 PMID:23819449 PMID:25705862 PMID:25741868 PMID:26619011 PMID:26822237 PMID:26942290 PMID:27626068 PMID:33448156 More...
NCBI chr 8:36,426,116...36,485,683
Ensembl chr 8:36,427,110...36,485,508
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FLI1
Fli-1 proto-oncogene, ETS transcription factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19270706
NCBI chr 1:119,817,987...119,945,378
Ensembl chr 1:119,827,222...119,946,662
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FOXO3
forkhead box O3
ISO
ClinVar Annotator: match by term: Medulloblastoma
ClinVar
PMID:26822237
NCBI chr13:65,175,764...65,303,107
Ensembl chr13:65,195,376...65,301,725
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GPR161
G protein-coupled receptor 161
ISO
ClinVar Annotator: match by term: Medulloblastoma
OMIM ClinVar
PMID:23332756 PMID:23806086 PMID:25322266 PMID:25741868 PMID:28492532 PMID:31609649 More...
NCBI chr25:60,908,741...60,965,168
Ensembl chr25:60,940,047...60,959,181
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HIC1
HIC ZBTB transcriptional repressor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18347096
NCBI chr16:1,687,560...1,697,888
Ensembl chr16:1,694,341...1,697,023
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IDH1
isocitrate dehydrogenase (NADP(+)) 1
ISO
ClinVar Annotator: match by term: MEDULLOBLASTOMA PREDISPOSITION SYNDROME
ClinVar
PMID:18772396 PMID:19657110 PMID:19798509 PMID:19818334 PMID:20946881 PMID:21352804 PMID:21446021 PMID:22160010 PMID:22397365 PMID:22417203 PMID:22898539 PMID:23558169 PMID:24606448 PMID:25043048 PMID:25157968 PMID:25741868 PMID:26619011 PMID:27993330 PMID:30231226 PMID:36201590 More...
NCBI chr10:94,021,002...94,039,997
Ensembl chr10:94,020,818...94,039,975
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IFNG
interferon gamma
ISO
OMIM:155255
MouseDO
NCBI chr11:63,785,493...63,791,071
Ensembl chr11:63,786,041...63,790,473
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IRS2
insulin receptor substrate 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19270706
NCBI chr 3:88,045,439...88,076,468
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KAT6A
lysine acetyltransferase 6A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19270706
NCBI chr 8:39,912,120...40,035,776
Ensembl chr 8:39,911,776...39,962,735
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KDM4B
lysine demethylase 4B
ISO
CTD Direct Evidence: marker/mechanism mRNA:increased expression:brain (human)
CTD RGD
PMID:19270706
RGD:9587481
NCBI chr 6:4,649,140...4,831,634
Ensembl chr 6:4,649,221...4,831,636
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KDM4C
lysine demethylase 4C
ISO
mRNA:increased expression:brain (human) CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:19270706
RGD:9587481
NCBI chr12:72,346,194...72,763,040
Ensembl chr12:72,347,071...72,761,666
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L3MBTL2
L3MBTL histone methyl-lysine binding protein 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19270706
NCBI chr19:23,749,894...23,774,749
Ensembl chr19:23,750,212...23,776,947
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L3MBTL3
L3MBTL histone methyl-lysine binding protein 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19270706
NCBI chr13:43,428,693...43,554,996
Ensembl chr13:43,428,694...43,554,972
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LOC103219825
protein patched homolog 1
ISO
ClinVar Annotator: match by term: Medulloblastoma
ClinVar
PMID:16301862 PMID:16419085 PMID:25741868 PMID:28492532
NCBI chr12:107,580,895...107,656,443
Ensembl chr12:107,590,663...107,652,985
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LOC103224275
glutathione S-transferase Mu 1
ISO
DNA:deletion: :
RGD
PMID:18952980
RGD:5490237
NCBI chr20:23,854,969...23,861,634
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MPL
MPL proto-oncogene, thrombopoietin receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19270706
NCBI chr20:89,457,549...89,474,756
Ensembl chr20:89,459,493...89,474,352
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MYC
MYC proto-oncogene, bHLH transcription factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19270706 PMID:31694585
NCBI chr 8:122,282,989...122,288,392
Ensembl chr 8:122,282,630...122,288,384
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MYCL
MYCL proto-oncogene, bHLH transcription factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19270706
NCBI chr20:92,998,668...93,005,283
Ensembl chr20:92,999,219...93,005,344
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MYCN
MYCN proto-oncogene, bHLH transcription factor
ISO
ClinVar Annotator: match by term: Medulloblastoma
ClinVar
PMID:26619011
NCBI chr14:91,685,376...91,692,091
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NONO
non-POU domain containing octamer binding
ISO
ClinVar Annotator: match by term: Medulloblastoma
ClinVar
PMID:25741868 PMID:26822237
NCBI chr X:61,082,923...61,110,895
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NRAS
NRAS proto-oncogene, GTPase
ISO
ClinVar Annotator: match by term: MEDULLOBLASTOMA PREDISPOSITION SYNDROME
ClinVar
PMID:2407301 PMID:2674680 PMID:2989702 PMID:3102434 PMID:8120410 PMID:16291983 PMID:17332249 PMID:17517660 PMID:18375819 PMID:18390968 PMID:18633438 PMID:19657110 PMID:19775298 PMID:20130576 PMID:20179705 PMID:21079152 PMID:22962325 PMID:23414587 PMID:23431193 PMID:25157968 PMID:25741868 PMID:26619011 PMID:27993330 PMID:36130886 More...
NCBI chr20:18,953,273...18,966,002
Ensembl chr20:18,953,883...18,961,931
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OTX2
orthodenticle homeobox 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19270706
NCBI chr24:33,975,043...33,984,816
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PDGFRA
platelet derived growth factor receptor alpha
severity
ISO
CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:19270706 PMID:25576913
RGD:13702904
NCBI chr 7:14,243,291...14,307,373
Ensembl chr 7:14,241,070...14,307,422
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PIK3CA
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha
ISO
ClinVar Annotator: match by term: Medulloblastoma | ClinVar Annotator: match by term: Medulloblastoma, somatic ClinVar Annotator: match by term: MEDULLOBLASTOMA PREDISPOSITION SYNDROME ClinVar Annotator: match by term: MEDULLOBLASTOMA PREDISPOSITION SYNDROME | ClinVar Annotator: match by term: Medulloblastoma
ClinVar
PMID:15016963 PMID:15254419 PMID:15520168 PMID:15608678 PMID:15647370 PMID:15805248 PMID:16353168 PMID:16906227 PMID:16930767 PMID:17376864 PMID:17673550 PMID:18371219 PMID:18676830 PMID:18725974 PMID:19029981 PMID:19223544 PMID:19366826 PMID:19513541 PMID:19671852 PMID:19903786 PMID:20177704 PMID:20453058 PMID:20593314 PMID:20619739 PMID:21430269 PMID:21558396 PMID:21824802 PMID:22162582 PMID:22162589 PMID:22271473 PMID:22370636 PMID:22658544 PMID:22729222 PMID:22729224 PMID:23066039 PMID:23100325 PMID:23946963 PMID:24033266 PMID:24782230 PMID:25157968 PMID:25599672 PMID:25681199 PMID:25741868 PMID:25915946 PMID:26266975 PMID:26266985 PMID:26619011 PMID:26627007 PMID:26822237 PMID:27126994 PMID:27626068 PMID:27631024 PMID:28492532 PMID:29446767 PMID:29988677 PMID:31536475 PMID:31775759 PMID:34008892 PMID:34496175 PMID:34568242 PMID:34606700 PMID:37667289 PMID:37712948 More...
NCBI chr15:10,218,034...10,304,874
Ensembl chr15:10,218,805...10,294,316
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PIK3CG
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21652733
NCBI chr21:75,781,812...75,823,404
Ensembl chr21:75,784,648...75,825,496
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PRKAR1A
protein kinase cAMP-dependent type I regulatory subunit alpha
ISO
ClinVar Annotator: match by term: Medulloblastoma
ClinVar
PMID:26822237 PMID:28492532
NCBI chr16:53,021,666...53,042,594
Ensembl chr16:53,023,963...53,042,493
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PRMT5
protein arginine methyltransferase 5
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:31694585
NCBI chr29:23,288,458...23,297,746
Ensembl chr29:23,288,835...23,297,518
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PTCH2
patched 2
ISO
ClinVar Annotator: match by term: MEDULLOBLASTOMA PREDISPOSITION SYNDROME
OMIM ClinVar
PMID:25741868 PMID:28492532 PMID:31945512
NCBI chr20:87,953,877...87,975,087
Ensembl chr20:87,953,971...87,974,607
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RASSF1
Ras association domain family member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21880625
NCBI chr22:11,716,969...11,728,646
Ensembl chr22:11,716,918...11,725,027
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RB1
RB transcriptional corepressor 1
ISO
ClinVar Annotator: match by term: Medulloblastoma
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 3:26,220,783...26,393,671
Ensembl chr 3:26,220,803...26,394,546
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RET
ret proto-oncogene
ISO
ClinVar Annotator: match by term: MEDULLOBLASTOMA PREDISPOSITION SYNDROME
ClinVar
PMID:11436122 PMID:24033266 PMID:25741868 PMID:28492532 PMID:36900197
NCBI chr 9:38,746,088...38,798,773
Ensembl chr 9:38,769,170...38,796,712
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S100A10
S100 calcium binding protein A10
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17579622
NCBI chr20:11,690,580...11,701,561
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S100A4
S100 calcium binding protein A4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17579622
NCBI chr20:10,258,142...10,260,390
Ensembl chr20:10,258,070...10,260,871
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S100A6
S100 calcium binding protein A6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17579622
NCBI chr20:10,267,708...10,269,361
Ensembl chr20:10,267,556...10,269,405
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SCG5
secretogranin V
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17334394
NCBI chr26:50,182,966...50,243,284
Ensembl chr26:50,189,473...50,243,282
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SCML2
Scm polycomb group protein like 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19270706
NCBI chr X:16,680,560...16,803,443
Ensembl chr X:16,680,567...16,782,447
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SF3B2
splicing factor 3b subunit 2
ISO
ClinVar Annotator: match by term: MEDULLOBLASTOMA PREDISPOSITION SYNDROME
ClinVar
PMID:26619011
NCBI chr 1:8,189,636...8,207,024
Ensembl chr 1:8,189,446...8,207,020
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SKP2
S-phase kinase associated protein 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19270706
NCBI chr 4:35,009,114...35,040,518
Ensembl chr 4:35,009,076...35,042,632
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SMARCA4
SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4
ISO
ClinVar Annotator: match by term: Medulloblastoma
ClinVar
PMID:23698369 PMID:26822237 PMID:26842758 PMID:28492532
NCBI chr 6:9,943,162...10,044,476
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SMO
smoothened, frizzled class receptor
treatment
ISO
ClinVar Annotator: match by term: Medulloblastoma
RGD ClinVar
PMID:19726788 PMID:22084163 PMID:22679179 PMID:25759020
RGD:150521622
NCBI chr21:97,788,955...97,814,549
Ensembl chr21:97,788,624...97,814,709
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SMYD4
SET and MYND domain containing 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19270706
NCBI chr16:1,426,098...1,470,202
Ensembl chr16:1,426,599...1,470,276
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STAT3
signal transducer and activator of transcription 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19001435
NCBI chr16:63,877,884...63,957,894
Ensembl chr16:63,922,862...63,957,984
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STRADA
STE20 related adaptor alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21652733
NCBI chr16:57,550,698...57,587,995
Ensembl chr16:57,550,703...57,588,084
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SUFU
SUFU negative regulator of hedgehog signaling
ISO
ClinVar Annotator: match by term: MEDULLOBLASTOMA PREDISPOSITION SYNDROME | ClinVar Annotator: match by term: Medulloblastoma
ClinVar OMIM
PMID:12068298 PMID:17102621 PMID:19533801 PMID:19833601 PMID:21188540 PMID:22508808 PMID:24728327 PMID:25326637 PMID:25403219 PMID:25741868 PMID:26467025 PMID:26580448 PMID:28492532 PMID:28717660 PMID:28873162 PMID:29186568 PMID:29641532 PMID:29753700 PMID:33024317 PMID:34056767 PMID:34675124 PMID:35768194 PMID:36825822 More...
NCBI chr 9:95,532,228...95,660,594
Ensembl chr 9:95,532,242...95,657,290
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TP53
tumor protein p53
disease_progression
ISO
protein:increased expression:nucleus: ClinVar Annotator: match by term: MEDULLOBLASTOMA PREDISPOSITION SYNDROME ClinVar Annotator: match by term: MEDULLOBLASTOMA PREDISPOSITION SYNDROME | ClinVar Annotator: match by term: Medulloblastoma ClinVar Annotator: match by term: Medulloblastoma | ClinVar Annotator: match by term: Medulloblastoma, somatic
RGD ClinVar
PMID:1359493 PMID:1565143 PMID:1565144 PMID:1631137 PMID:1644930 PMID:1683921 PMID:1737852 PMID:1978757 PMID:2046748 PMID:2826609 PMID:7651740 PMID:7732013 PMID:7887414 PMID:8001119 PMID:8023157 PMID:8062826 PMID:8099841 PMID:8118819 PMID:8164043 PMID:8308926 PMID:8423216 PMID:8425176 PMID:8479749 PMID:8527048 PMID:8649776 PMID:8825920 PMID:8843196 PMID:9096669 PMID:9150393 PMID:9242456 PMID:9290701 PMID:9399838 PMID:9407971 PMID:9546439 PMID:9569050 PMID:9598730 PMID:9632751 PMID:9635828 PMID:9704930 PMID:9825943 PMID:10089074 PMID:10411893 PMID:10797439 PMID:10864200 PMID:11051239 PMID:11139324 PMID:11180592 PMID:11370630 PMID:11451203 PMID:11479205 PMID:11782540 PMID:11793474 PMID:11920959 PMID:12007217 PMID:12509279 PMID:12672316 PMID:12826609 PMID:12917626 PMID:14743206 PMID:15004724 PMID:15017592 PMID:15037740 PMID:15381368 PMID:15390294 PMID:15607980 PMID:15607981 PMID:15722483 PMID:15825182 PMID:15951970 PMID:16401470 PMID:16489069 PMID:16682957 PMID:16818505 PMID:16861262 PMID:17308077 PMID:17417627 PMID:17427234 PMID:17540308 PMID:17606709 PMID:17636407 PMID:17881637 PMID:17999388 PMID:18511570 PMID:18685109 PMID:19367569 PMID:19378321 PMID:19454241 PMID:19556618 PMID:20013323 PMID:20113312 PMID:20128691 PMID:20182602 PMID:20407015 PMID:20505364 PMID:20516128 PMID:20522432 PMID:20693561 PMID:21059199 PMID:21113594 PMID:21187651 PMID:21305319 PMID:21319261 PMID:21343334 PMID:21445056 PMID:21484931 PMID:21519010 PMID:21535297 PMID:21552135 PMID:21601526 PMID:21761402 PMID:22006311 PMID:22110706 PMID:22186996 PMID:22233476 PMID:22265402 PMID:22484423 PMID:22710932 PMID:22713868 PMID:22811390 PMID:22899716 PMID:22915647 PMID:22919068 PMID:22955915 PMID:22983585 PMID:23161690 PMID:23165212 PMID:23172776 PMID:23175693 PMID:23246812 PMID:23263379 PMID:23538418 PMID:23612969 PMID:23667202 PMID:23792586 PMID:23950206 PMID:24033266 PMID:24038938 PMID:24381225 PMID:24487413 PMID:24501221 PMID:24573247 PMID:24603336 PMID:24641375 PMID:24651012 PMID:24651015 PMID:24677579 PMID:24810334 PMID:25157968 PMID:25294809 PMID:25339994 PMID:25503501 PMID:25525159 PMID:25584008 PMID:25612911 PMID:25741868 PMID:25787918 PMID:25925845 PMID:25927356 PMID:25952993 PMID:26014290 PMID:26024390 PMID:26230955 PMID:26271412 PMID:26332594 PMID:26467025 PMID:26585234 PMID:26619011 PMID:26681312 PMID:26786923 PMID:26787237 PMID:26822237 PMID:26845104 PMID:27276561 PMID:27374712 PMID:27463065 PMID:27533082 PMID:27680515 PMID:27683180 PMID:27724982 PMID:27813088 PMID:27895058 PMID:27959731 PMID:27993330 PMID:28152038 PMID:28369373 PMID:28453743 PMID:28472496 PMID:28492532 PMID:28724667 PMID:28861920 PMID:28873162 PMID:28915717 PMID:29025599 PMID:29070607 PMID:29478780 PMID:29489754 PMID:29752822 PMID:29979965 PMID:30076369 PMID:30216591 PMID:30224644 PMID:30287823 PMID:30327374 PMID:30546832 PMID:30816478 PMID:31105275 PMID:31119730 PMID:31127191 PMID:31296311 PMID:31748977 PMID:31775759 PMID:31882575 PMID:32000721 PMID:32187361 PMID:32906206 PMID:33245408 PMID:33257846 PMID:33300245 PMID:33372952 PMID:33471991 PMID:33633026 PMID:35820297 PMID:36988593 More...
RGD:8547823
NCBI chr16:7,047,686...7,065,567
Ensembl chr16:7,045,146...7,066,223
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TSC2
TSC complex subunit 2
ISO
DNA:polymorphism:intron
RGD
PMID:11603814
RGD:11072879
NCBI chr 5:1,946,534...1,985,168
Ensembl chr 5:1,946,927...1,987,682
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TUBB4A
tubulin beta 4A class IVa
ISO
ClinVar Annotator: match by term: Classic medulloblastoma
ClinVar
NCBI chr 6:6,104,265...6,111,966
Ensembl chr 6:6,094,130...6,111,762
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VAV1
vav guanine nucleotide exchange factor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19270706
NCBI chr 6:6,337,255...6,415,851
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WRN
WRN RecQ like helicase
ISO
ClinVar Annotator: match by term: Medulloblastoma
ClinVar
PMID:8968742 PMID:9225981 PMID:16673358 PMID:16786514 PMID:20301687 PMID:24033266 PMID:25182132 PMID:25390333 PMID:25741868 PMID:27667302 PMID:28492532 More...
NCBI chr 8:29,150,256...29,288,830
Ensembl chr 8:29,174,229...29,289,129
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MYCN
MYCN proto-oncogene, bHLH transcription factor
ISO
ClinVar Annotator: match by term: Megalencephaly-polydactyly syndrome
OMIM ClinVar
PMID:25741868 PMID:30573562 PMID:37710961
NCBI chr14:91,685,376...91,692,091
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RTEL1
regulator of telomere elongation helicase 1
susceptibility
ISO
DNA:SNPs:multiple:multiple (human)
RGD
PMID:30462709
RGD:152977767
NCBI chr 2:531,905...567,430
Ensembl chr 2:531,085...566,840
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ABCB1
ATP binding cassette subfamily B member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:8761367
NCBI chr21:61,211,044...61,430,691
Ensembl chr21:61,322,748...61,529,274
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ALK
ALK receptor tyrosine kinase
ISO
ClinVar Annotator: match by term: Neuroblastoma | ClinVar Annotator: match by term: Neuroblastoma Susceptibility
ClinVar
PMID:2124297 PMID:18724359 PMID:18923523 PMID:18923524 PMID:18923525 PMID:18990089 PMID:21030459 PMID:21242967 PMID:21575866 PMID:21804922 PMID:21838707 PMID:21948233 PMID:21972109 PMID:22071890 PMID:22072639 PMID:22277784 PMID:22932897 PMID:23104988 PMID:23334666 PMID:24205241 PMID:24327273 PMID:24675991 PMID:25517749 PMID:25741868 PMID:26619011 PMID:26829053 PMID:27132509 PMID:28492532 PMID:28873162 PMID:29489754 PMID:30004444 PMID:30350464 PMID:30605844 More...
NCBI chr14:77,632,809...78,408,307
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ALOX5AP
arachidonate 5-lipoxygenase activating protein
ISO
mRNA, protein:increased expression:neuroblastoma (human)
RGD
PMID:18591367
RGD:2313903
NCBI chr 3:9,618,030...9,642,990
Ensembl chr 3:9,617,949...9,643,184
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ARID1A
AT-rich interaction domain 1A
ISO
DNA:mutations,loss of heterozygosity: : CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:23202128
RGD:13439724
NCBI chr20:105,981,549...106,066,093
Ensembl chr20:105,981,290...106,065,672
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ARID1B
AT-rich interaction domain 1B
ISO
CTD Direct Evidence: marker/mechanism DNA:deletion,haploinsufficiency: :
CTD RGD
PMID:23202128
RGD:13439724
NCBI chr13:84,351,298...84,799,691
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ATRX
ATRX chromatin remodeler
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23334666 PMID:26523776
NCBI chr X:66,449,830...66,737,220
Ensembl chr X:66,448,449...66,737,164
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AURKA
aurora kinase A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22588779
NCBI chr 2:7,730,060...7,753,167
Ensembl chr 2:7,734,128...7,752,395
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BARD1
BRCA1 associated RING domain 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19412175 PMID:23334666
NCBI chr10:100,539,827...100,627,718
Ensembl chr10:100,539,527...100,627,675
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BCHE
butyrylcholinesterase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:2317787
NCBI chr15:23,708,121...23,778,027
Ensembl chr15:23,708,155...23,778,286
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BIRC2
baculoviral IAP repeat containing 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:34626302
NCBI chr 1:93,721,449...93,746,638
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BIRC3
baculoviral IAP repeat containing 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:34626302
NCBI chr 1:93,692,239...93,711,905
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BRCA2
BRCA2 DNA repair associated
ISO
ClinVar Annotator: match by term: Neuroblastoma
ClinVar
PMID:16284991 PMID:19043619 PMID:20127978 PMID:21702907 PMID:22034289 PMID:22711857 PMID:24163242 PMID:25085752 PMID:25741868 PMID:26467025 PMID:26822237 PMID:28492532 PMID:29884841 PMID:30287823 PMID:31112341 PMID:31131967 PMID:31294896 PMID:31911673 PMID:33428613 PMID:33471991 PMID:33609447 More...
NCBI chr 3:11,070,086...11,155,257
Ensembl chr 3:11,071,682...11,155,213
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CD44
CD44 molecule (IN blood group)
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:34626302
NCBI chr 1:30,039,854...30,132,646
Ensembl chr 1:30,039,749...30,132,416
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CD55
CD55 molecule (Cromer blood group)
ISO
RGD
PMID:10850450
RGD:2326181
NCBI chr25:22,055,138...22,092,472
Ensembl chr25:22,073,629...22,092,173
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CHAF1A
chromatin assembly factor 1 subunit A
disease_progression
ISO
mRNA:increased expression: :
RGD
PMID:24335960
RGD:9587458
NCBI chr 6:4,134,405...4,174,281
Ensembl chr 6:4,137,738...4,174,988
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CHD5
chromodomain helicase DNA binding protein 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26121086
NCBI chr20:125,558,640...125,635,748
Ensembl chr20:125,558,713...125,631,277
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CHD6
chromodomain helicase DNA binding protein 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18577749
NCBI chr 2:22,163,836...22,373,098
Ensembl chr 2:22,223,919...22,373,275
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CHEK2
checkpoint kinase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23334666
NCBI chr19:11,567,529...11,621,180
Ensembl chr19:11,567,528...11,604,792
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DBH
dopamine beta-hydroxylase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25174395
NCBI chr12:4,474,041...4,498,942
Ensembl chr12:4,474,958...4,498,910
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DOCK8
dedicator of cytokinesis 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26121086
NCBI chr12:79,060,579...79,298,145
Ensembl chr12:79,060,425...79,298,164
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ESR1
estrogen receptor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27366082
NCBI chr13:79,153,418...79,554,552
Ensembl chr13:79,270,265...79,554,549
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FANCA
FA complementation group A
ISO
ClinVar Annotator: match by term: Neuroblastoma
ClinVar
PMID:9536098 PMID:15059067 PMID:17576681 PMID:24584348 PMID:25741868 PMID:27041517 PMID:28060124 PMID:28492532 PMID:29098742 More...
NCBI chr 5:75,073,161...75,149,110
Ensembl chr 5:75,073,358...75,148,591
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FGFR1
fibroblast growth factor receptor 1
ISO
ClinVar Annotator: match by term: Neuroblastoma
ClinVar
PMID:10766980 PMID:23819449 PMID:25741868 PMID:26619011 PMID:26822237 PMID:26942290 PMID:27626068 More...
NCBI chr 8:36,426,116...36,485,683
Ensembl chr 8:36,427,110...36,485,508
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FGFR3
fibroblast growth factor receptor 3
ISO
ClinVar Annotator: match by term: Neuroblastoma
ClinVar
PMID:26822237 PMID:28492532
NCBI chr27:46,958,444...46,974,032
Ensembl chr27:46,957,254...46,973,392
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GATA3
GATA binding protein 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30127528
NCBI chr 9:8,101,404...8,122,762
Ensembl chr 9:8,101,432...8,123,064
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HACE1
HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22941191
NCBI chr13:68,932,866...69,059,126
Ensembl chr13:68,932,824...69,061,053
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HAND2
heart and neural crest derivatives expressed 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30127528
NCBI chr 7:119,635,697...119,639,415
Ensembl chr 7:119,634,741...119,638,546
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HGF
hepatocyte growth factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16051641
NCBI chr21:67,118,785...67,193,506
Ensembl chr21:67,120,722...67,193,504
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HRAS
HRas proto-oncogene, GTPase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15814359 PMID:26121086
NCBI chr 1:343,613...345,782
Ensembl chr 1:343,506...346,637
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IGF1R
insulin like growth factor 1 receptor
ISO
protein: decreased tyrosine phosphorylation: : Y1131
RGD
PMID:17121898
RGD:7242922
NCBI chr29:17,212,206...17,534,036
Ensembl chr29:17,459,404...17,526,930
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IGF2BP1
insulin like growth factor 2 mRNA binding protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:37246217
NCBI chr16:69,405,923...69,461,613
Ensembl chr16:69,406,549...69,459,175
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IL18
interleukin 18
susceptibility
ISO
RGD
PMID:16428511
RGD:8655920
NCBI chr 1:103,485,868...103,511,632
Ensembl chr 1:103,482,083...103,510,150
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IL1B
interleukin 1 beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:34626302
NCBI chr14:15,844,628...15,852,652
Ensembl chr14:15,844,672...15,850,729
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ISL1
ISL LIM homeobox 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30127528
NCBI chr 4:47,665,861...47,678,631
Ensembl chr 4:47,666,536...47,677,552
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KIF1B
kinesin family member 1B
susceptibility
ISO
ClinVar Annotator: match by term: Neuroblastoma | ClinVar Annotator: match by term: Neuroblastoma, susceptibility to, 1
ClinVar OMIM
PMID:18334619 PMID:24033266 PMID:24469107 PMID:24694336 PMID:25741868 PMID:28492532 PMID:30126838 PMID:30487145 PMID:32376792 PMID:33362715 More...
NCBI chr20:121,393,478...121,567,704
Ensembl chr20:121,395,836...121,546,803
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KRAS
KRAS proto-oncogene, GTPase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26121086
NCBI chr11:24,963,396...25,010,747
Ensembl chr11:24,973,619...25,005,191
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LIN28B
lin-28 homolog B
ISO
CTD Direct Evidence: marker/mechanism
CTD MouseDO
PMID:22941191 PMID:23042116
NCBI chr13:68,721,209...68,859,257
Ensembl chr13:68,725,392...68,839,811
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LMO1
LIM domain only 1
ISO
ClinVar Annotator: match by term: Neuroblastoma, susceptibility to, 7
ClinVar
PMID:21124317 PMID:26560027
NCBI chr 1:56,533,530...56,578,167
Ensembl chr 1:56,571,860...56,577,855
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LOC103219825
protein patched homolog 1
ISO
ClinVar Annotator: match by term: Neuroblastoma
ClinVar
PMID:25741868 PMID:28492532
NCBI chr12:107,580,895...107,656,443
Ensembl chr12:107,590,663...107,652,985
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LOC103242912
nucleoside diphosphate kinase A
ISO
RGD
PMID:8047138
RGD:1600229
NCBI chr16:42,186,039...42,195,608
Ensembl chr16:42,185,260...42,195,616
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LOC103243509
neuroendocrine secretory protein 55
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20862257
NCBI chr 2:5,233,893...5,303,433
Ensembl chr 2:5,233,874...5,249,192
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MAP2K4
mitogen-activated protein kinase kinase 4
ISO
ClinVar Annotator: match by term: Neuroblastoma
ClinVar
PMID:26822237
NCBI chr16:11,366,610...11,485,411
Ensembl chr16:11,366,751...11,486,125
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MAP2K7
mitogen-activated protein kinase kinase 7
ISO
ClinVar Annotator: match by term: Neuroblastoma
ClinVar
PMID:26822237
NCBI chr 6:7,355,387...7,365,944
Ensembl chr 6:7,355,434...7,364,398
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MEN1
menin 1
ISO
ClinVar Annotator: match by term: Neuroblastoma
ClinVar
PMID:25741868
NCBI chr 1:9,423,885...9,431,123
Ensembl chr 1:9,423,917...9,431,104
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MET
MET proto-oncogene, receptor tyrosine kinase
ISO
ClinVar Annotator: match by term: Neuroblastoma
ClinVar
PMID:26822237
NCBI chr21:85,370,574...85,486,405
Ensembl chr21:85,397,645...85,488,093
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MMP9
matrix metallopeptidase 9
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:34626302
NCBI chr 2:17,867,267...17,874,757
Ensembl chr 2:17,867,177...17,874,712
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MTFP1
mitochondrial fission process 1
severity
ISO
mRNA:increased expression:neural tissue (human)
RGD
PMID:27765905
RGD:12880392
NCBI chr19:13,305,752...13,309,158
Ensembl chr19:13,305,888...13,309,164
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MYB
MYB proto-oncogene, transcription factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:34626302
NCBI chr13:38,203,923...38,242,148
Ensembl chr13:38,203,731...38,241,864
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MYC
MYC proto-oncogene, bHLH transcription factor
ISO
ClinVar Annotator: match by term: Neuroblastoma
ClinVar
PMID:25157968 PMID:26619011
NCBI chr 8:122,282,989...122,288,392
Ensembl chr 8:122,282,630...122,288,384
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MYCN
MYCN proto-oncogene, bHLH transcription factor
ISO
ClinVar Annotator: match by term: Neuroblastoma
ClinVar
PMID:26619011
NCBI chr14:91,685,376...91,692,091
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NNAT
neuronatin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17762496
NCBI chr 2:26,229,765...26,232,249
Ensembl chr 2:26,230,696...26,232,127
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NODAL
nodal growth differentiation factor
ISO
mRNA:increased expression:neural tissue (human)
RGD
PMID:30985990
RGD:155226876
NCBI chr 9:60,852,567...60,863,225
Ensembl chr 9:60,853,763...60,862,839
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NRAS
NRAS proto-oncogene, GTPase
ISO
ClinVar Annotator: match by term: Neuroblastoma
ClinVar
PMID:2674680 PMID:8120410 PMID:10821536 PMID:12460918 PMID:15899789 PMID:16273091 PMID:16291983 PMID:17699718 PMID:18390968 PMID:18633438 PMID:18668139 PMID:18948947 PMID:19657110 PMID:19966803 PMID:20130576 PMID:20179705 PMID:20619739 PMID:20736745 PMID:21107323 PMID:21305640 PMID:21729679 PMID:21829508 PMID:22718121 PMID:22761467 PMID:23392294 PMID:23400451 PMID:23414587 PMID:23515407 PMID:23538902 PMID:23569304 PMID:23614898 PMID:24148783 PMID:24671188 PMID:25348872 PMID:25695684 PMID:25741868 PMID:26619011 PMID:26821351 PMID:27050078 PMID:28492532 PMID:28780248 More...
NCBI chr20:18,953,273...18,966,002
Ensembl chr20:18,953,883...18,961,931
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NSD1
nuclear receptor binding SET domain protein 1
severity
ISO
DNA:hypermethylation:promoter:CpG islands (human)
RGD
PMID:20018718
RGD:9590155
NCBI chr23:79,140,148...79,309,579
Ensembl chr23:79,141,114...79,304,820
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NT5E
5'-nucleotidase ecto
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:34773529
NCBI chr13:10,115,591...10,162,178
Ensembl chr13:10,116,161...10,160,414
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NTRK1
neurotrophic receptor tyrosine kinase 1
disease_progression
ISO
CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:8433391 PMID:16989911
RGD:5684545
NCBI chr20:6,987,903...7,027,381
Ensembl chr20:6,987,905...7,008,670
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NTRK2
neurotrophic receptor tyrosine kinase 2
ISO
ClinVar Annotator: match by term: Neuroblastoma
ClinVar
PMID:26822237
NCBI chr12:95,477,612...95,836,734
Ensembl chr12:95,479,447...95,620,364
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PAK4
p21 (RAC1) activated kinase 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29048629
NCBI chr 6:33,715,695...33,769,272
Ensembl chr 6:33,759,462...33,770,497
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PECAM1
platelet and endothelial cell adhesion molecule 1
ISO
human tumor in mouse model
RGD
PMID:22174364
RGD:6767296
NCBI chr16:56,863,763...56,947,479
Ensembl chr16:56,880,934...56,950,999
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PHF6
PHD finger protein 6
ISO
ClinVar Annotator: match by term: Neuroblastoma
ClinVar
PMID:26822237
NCBI chr X:109,531,700...109,595,136
Ensembl chr X:109,531,726...109,593,854
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PHOX2B
paired like homeobox 2B
exacerbates
ISO
human cell line in a mouse model ClinVar Annotator: match by term: Neuroblastoma
RGD ClinVar
PMID:26840262
RGD:151667442
NCBI chr27:8,602,764...8,608,052
Ensembl chr27:8,603,484...8,606,299
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PIK3CA
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha
ISO
ClinVar Annotator: match by term: Neuroblastoma
ClinVar
PMID:17376864 PMID:18074223 PMID:20581867 PMID:25741868 PMID:26619011 PMID:28492532 More...
NCBI chr15:10,218,034...10,304,874
Ensembl chr15:10,218,805...10,294,316
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PINK1
PTEN induced kinase 1
ISO
ClinVar Annotator: match by term: Neuroblastoma
ClinVar
PMID:25741868
NCBI chr20:111,902,135...111,919,082
Ensembl chr20:111,902,765...111,919,069
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PSMD14
proteasome 26S subunit, non-ATPase 14
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30871063
NCBI chr10:46,703,876...46,814,938
Ensembl chr10:46,704,098...46,815,132
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PTPN11
protein tyrosine phosphatase non-receptor type 11
ISO
ClinVar Annotator: match by term: Neuroblastoma
ClinVar
PMID:11704759 PMID:12161469 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:18759865 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:26918529 PMID:27069254 PMID:27276561 PMID:27783593 PMID:28074573 PMID:28098151 PMID:28492532 PMID:30868567 PMID:30896080 PMID:32561839 PMID:36349709 More...
NCBI chr11:107,658,495...107,754,457
Ensembl chr11:107,658,453...107,752,637
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PTPN14
protein tyrosine phosphatase non-receptor type 14
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26121086
NCBI chr25:15,023,914...15,228,680
Ensembl chr25:15,110,687...15,219,492
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RASSF5
Ras association domain family member 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18452173
NCBI chr25:22,775,917...22,854,739
Ensembl chr25:22,774,661...22,807,353
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RBM15
RNA binding motif protein 15
ISO
ClinVar Annotator: match by term: Neuroblastoma
ClinVar
PMID:26822237
NCBI chr20:23,191,916...23,200,626
Ensembl chr20:23,193,349...23,199,524
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RELA
RELA proto-oncogene, NF-kB subunit
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:34626302
NCBI chr 1:8,576,059...8,585,561
Ensembl chr 1:8,576,542...8,586,516
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SCNN1A
sodium channel epithelial 1 subunit alpha
disease_progression
ISO
Low levels of methylation correlate with improved survival
RGD
PMID:21314941
RGD:5509791
NCBI chr11:6,384,073...6,418,620
Ensembl chr11:6,383,956...6,416,337
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SDHC
succinate dehydrogenase complex subunit C
ISO
ClinVar Annotator: match by term: Neuroblastoma
ClinVar
PMID:21979946 PMID:25741868 PMID:28492532
NCBI chr20:2,613,618...2,658,374
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SEMA3B
semaphorin 3B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17452250
NCBI chr22:11,652,766...11,664,902
Ensembl chr22:11,656,918...11,665,418
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SMARCA4
SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4
ISO
ClinVar Annotator: match by term: Neuroblastoma
ClinVar
PMID:25741868
NCBI chr 6:9,943,162...10,044,476
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SNRPE
small nuclear ribonucleoprotein polypeptide E
severity
ISO
mRNA:decreased expression:neuroblastoma (human)
RGD
PMID:17075126
RGD:10755762
NCBI chr25:25,474,620...25,483,427
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TBX2
T-box transcription factor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30127528
NCBI chr16:32,627,296...32,636,797
Ensembl chr16:32,627,819...32,636,880
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TERT
telomerase reverse transcriptase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26523776
NCBI chr 4:1,082,894...1,119,373
Ensembl chr 4:1,083,384...1,117,468
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TH
tyrosine hydroxylase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25174395
NCBI chr 1:1,969,194...1,977,263
Ensembl chr 1:1,966,460...1,977,218
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TNF
tumor necrosis factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:34626302
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TNFSF10
TNF superfamily member 10
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:16820965
NCBI chr15:16,934,982...16,953,155
Ensembl chr15:16,934,962...16,954,860
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TP53
tumor protein p53
ISO
ClinVar Annotator: match by term: Neuroblastoma
ClinVar
PMID:7651740 PMID:9546439 PMID:10064694 PMID:10864200 PMID:11896595 PMID:12826609 PMID:15925506 PMID:17390010 PMID:17572079 PMID:19850740 PMID:20407015 PMID:21305319 PMID:21343334 PMID:23894400 PMID:25293557 PMID:25741868 PMID:26619011 PMID:27493922 PMID:28492532 PMID:29979965 PMID:30224644 PMID:34026625 PMID:34240179 More...
NCBI chr16:7,047,686...7,065,567
Ensembl chr16:7,045,146...7,066,223
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TP73
tumor protein p73
no_association
ISO
RGD
PMID:9288759
RGD:1599583
NCBI chr20:127,958,002...128,035,792
Ensembl chr20:127,958,809...128,013,691
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TSC1
TSC complex subunit 1
ISO
ClinVar Annotator: match by term: Neuroblastoma
ClinVar
PMID:25741868
NCBI chr12:5,195,604...5,249,042
Ensembl chr12:5,195,675...5,244,157
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TSC2
TSC complex subunit 2
ISO
ClinVar Annotator: match by term: Neuroblastoma
ClinVar
PMID:26822237
NCBI chr 5:1,946,534...1,985,168
Ensembl chr 5:1,946,927...1,987,682
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YAP1
Yes1 associated transcriptional regulator
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26121086
NCBI chr 1:93,479,478...93,605,340
Ensembl chr 1:93,479,135...93,606,808
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ZNF276
zinc finger protein 276
ISO
ClinVar Annotator: match by term: Neuroblastoma
ClinVar
PMID:9536098 PMID:15059067 PMID:17576681 PMID:24584348 PMID:25741868 PMID:27041517 PMID:28060124 PMID:28492532 PMID:29098742 More...
NCBI chr 5:75,057,541...75,073,328
Ensembl chr 5:75,057,253...75,073,023
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PHOX2B
paired like homeobox 2B
ISO
ClinVar Annotator: match by term: NEUROBLASTOMA, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Neuroblastoma 2 | ClinVar Annotator: match by term: Neuroblastoma, susceptibility to, 2
ClinVar OMIM
PMID:12640453 PMID:15024693 PMID:15121777 PMID:15338462 PMID:15657873 PMID:15949893 PMID:16199547 PMID:16249188 PMID:16691592 PMID:16763219 PMID:16830328 PMID:17637745 PMID:17765533 PMID:18079495 PMID:19011468 PMID:19058226 PMID:20208042 PMID:23754957 PMID:23873030 PMID:24033266 PMID:24728327 PMID:25156769 PMID:25741868 PMID:27013732 PMID:27153395 PMID:28371199 PMID:28492532 PMID:28873162 PMID:29641532 PMID:33958749 More...
NCBI chr27:8,602,764...8,608,052
Ensembl chr27:8,603,484...8,606,299
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ALK
ALK receptor tyrosine kinase
susceptibility
ISO
ClinVar Annotator: match by term: ALK-related condition | ClinVar Annotator: match by term: Neuroblastoma 3 | ClinVar Annotator: match by term: Neuroblastoma, susceptibility to, 3
OMIM ClinVar
PMID:2124297 PMID:9536098 PMID:15517393 PMID:16199547 PMID:16880530 PMID:17576681 PMID:18724359 PMID:18923523 PMID:18923524 PMID:18923525 PMID:18990089 PMID:21030459 PMID:21242967 PMID:21575866 PMID:21637378 PMID:21804922 PMID:21838707 PMID:21948233 PMID:21972109 PMID:22071890 PMID:22072639 PMID:22086496 PMID:22277784 PMID:22932897 PMID:23104988 PMID:23334666 PMID:23555315 PMID:24033266 PMID:24129244 PMID:24205241 PMID:24326041 PMID:24327273 PMID:24675991 PMID:24728327 PMID:25054154 PMID:25517749 PMID:25589003 PMID:25640679 PMID:25714698 PMID:25741868 PMID:25801821 PMID:25874976 PMID:25979929 PMID:26002608 PMID:26554404 PMID:26580448 PMID:26619011 PMID:26689913 PMID:26696773 PMID:26829053 PMID:27132509 PMID:27153395 PMID:27179218 PMID:27285993 PMID:27930734 PMID:28185914 PMID:28202063 PMID:28492532 PMID:28873162 PMID:28975465 PMID:29489754 PMID:29625052 PMID:29684080 PMID:30004444 PMID:30350464 PMID:30605844 PMID:30716324 PMID:30982079 PMID:30989433 PMID:31263571 PMID:32984025 PMID:32989326 PMID:33372952 PMID:33486679 PMID:33674381 PMID:33898318 PMID:36451132 More...
NCBI chr14:77,632,809...78,408,307
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CLIP4
CAP-Gly domain containing linker protein family member 4
ISO
ClinVar Annotator: match by term: Neuroblastoma, susceptibility to, 3
ClinVar
PMID:28492532
NCBI chr14:78,415,593...78,504,484
Ensembl chr14:78,414,487...78,478,938
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PCARE
photoreceptor cilium actin regulator
ISO
ClinVar Annotator: match by term: Neuroblastoma, susceptibility to, 3
ClinVar
PMID:28492532
NCBI chr14:78,528,526...78,540,067
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TOGARAM2
TOG array regulator of axonemal microtubules 2
ISO
ClinVar Annotator: match by term: Neuroblastoma, susceptibility to, 3
ClinVar
PMID:28492532
NCBI chr14:78,551,667...78,623,546
Ensembl chr14:78,551,807...78,609,848
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WDR43
WD repeat domain 43
ISO
ClinVar Annotator: match by term: Neuroblastoma, susceptibility to, 3
ClinVar
PMID:28492532
NCBI chr14:78,653,957...78,714,353
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HIF1A
hypoxia inducible factor 1 subunit alpha
severity
ISO
protein:increased expression:neuroblastoma (human)
RGD
PMID:18431543
RGD:8694471
NCBI chr24:38,873,830...38,927,657
Ensembl chr24:38,873,861...38,928,288
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ATRX
ATRX chromatin remodeler
ISO
ClinVar Annotator: match by term: Oligodendroglioma
ClinVar
NCBI chr X:66,449,830...66,737,220
Ensembl chr X:66,448,449...66,737,164
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CAMK2B
calcium/calmodulin dependent protein kinase II beta
disease_progression
ISO
RGD
PMID:15750623
RGD:13702479
NCBI chr21:14,342,751...14,451,274
Ensembl chr21:14,342,892...14,451,282
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CIC
capicua transcriptional repressor
ISO
ClinVar Annotator: match by term: Oligodendroglioma
ClinVar
NCBI chr 6:36,472,991...36,500,479
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DTX1
deltex E3 ubiquitin ligase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21127729
NCBI chr11:108,299,691...108,343,271
Ensembl chr11:108,300,193...108,342,738
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EGF
epidermal growth factor
susceptibility
ISO
DNA:polymorphism:promoter:GG genotypes were associated with increased risk.
RGD
PMID:17473192
RGD:13702474
NCBI chr 7:57,810,110...57,911,361
Ensembl chr 7:57,811,728...57,911,516
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GDNF
glial cell derived neurotrophic factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19138852
NCBI chr 4:36,662,033...36,691,761
Ensembl chr 4:36,665,009...36,684,257
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HES1
hes family bHLH transcription factor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21127729
NCBI chr15:88,220,093...88,222,563
Ensembl chr15:88,220,083...88,223,243
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HEY1
hes related family bHLH transcription factor with YRPW motif 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21127729
NCBI chr 8:75,225,081...75,228,941
Ensembl chr 8:75,224,769...75,228,896
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IDH1
isocitrate dehydrogenase (NADP(+)) 1
ISO
ClinVar Annotator: match by term: Oligodendroglioma
ClinVar
PMID:18772396 PMID:19657110 PMID:19798509 PMID:19818334 PMID:21446021 PMID:22160010 PMID:22397365 PMID:22417203 PMID:22898539 PMID:23558169 PMID:24606448 PMID:25043048 PMID:25157968 PMID:25741868 PMID:26619011 PMID:36201590 More...
NCBI chr10:94,021,002...94,039,997
Ensembl chr10:94,020,818...94,039,975
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LOC103231165
isocitrate dehydrogenase (NADP(+)) 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20160062
NCBI chr29:8,633,429...8,650,744
Ensembl chr29:8,633,715...8,650,657
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MGMT
O-6-methylguanine-DNA methyltransferase
ISO
DNA:hypermethylation:promoter (human)
RGD
PMID:15455350
RGD:2317688
NCBI chr 9:122,089,768...122,376,320
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PTGES3
prostaglandin E synthase 3
ISO
protein:increased expression:brain cortex, white matter (human)
RGD
PMID:19347995
RGD:5688067
NCBI chr11:52,609,460...52,634,490
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RB1
RB transcriptional corepressor 1
disease_progression
ISO
RGD
PMID:15970925
RGD:13782064
NCBI chr 3:26,220,783...26,393,671
Ensembl chr 3:26,220,803...26,394,546
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ALX4
ALX homeobox 4
ISO
ClinVar Annotator: match by term: Optic nerve glioma
ClinVar
PMID:25741868
NCBI chr 1:21,051,413...21,099,159
Ensembl chr 1:21,051,580...21,097,605
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CX3CR1
C-X3-C motif chemokine receptor 1
onset
ISO
associated with Neurofibromatosis 1
RGD
PMID:23424002
RGD:9491391
NCBI chr15:136,757...153,316
Ensembl chr15:150,718...151,785
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NF1
neurofibromin 1
susceptibility
ISO
associated with Neurofibromatosis 1; DNA:mutations:5'end: ClinVar Annotator: match by term: Optic nerve glioma
RGD ClinVar
PMID:10712197 PMID:16199547 PMID:21278392 PMID:23913538 PMID:25741868 PMID:28492532 PMID:29483232 More...
RGD:12789442
NCBI chr16:24,550,983...24,836,311
Ensembl chr16:24,550,977...24,836,307
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FCGR1A
Fc fragment of IgG receptor Ia
ISO
ClinVar Annotator: match by term: Peritoneal Gliomatosis
ClinVar
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LOC103247165
histone H2B type 2-F
ISO
ClinVar Annotator: match by term: Peritoneal Gliomatosis
ClinVar
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FLCN
folliculin
ISO
ClinVar Annotator: match by term: Pilocytic astrocytoma
ClinVar
PMID:15852235 PMID:16199547 PMID:25741868 PMID:28492532
NCBI chr16:16,245,840...16,271,465
Ensembl chr16:16,245,715...16,267,698
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KRAS
KRAS proto-oncogene, GTPase
ISO
ClinVar Annotator: match by term: Pilocytic astrocytoma, somatic
ClinVar
PMID:12460918 PMID:15696205 PMID:16247081 PMID:16361624 PMID:16618717 PMID:17384584 PMID:18316791 PMID:18794081 PMID:19114683 PMID:19255327 PMID:19679400 PMID:19773371 PMID:20921462 PMID:20921465 PMID:21228335 PMID:23406027 PMID:24033266 PMID:25157968 More...
NCBI chr11:24,963,396...25,010,747
Ensembl chr11:24,973,619...25,005,191
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NF1
neurofibromin 1
ISO
ClinVar Annotator: match by term: Pilocytic astrocytoma
ClinVar
PMID:10712197 PMID:23913538 PMID:25741868 PMID:28492532
NCBI chr16:24,550,983...24,836,311
Ensembl chr16:24,550,977...24,836,307
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PALB2
partner and localizer of BRCA2
ISO
ClinVar Annotator: match by term: Pilocytic astrocytoma
ClinVar
PMID:25741868 PMID:26283626 PMID:28492532 PMID:28664506 PMID:32546565
NCBI chr 5:21,322,952...21,358,363
Ensembl chr 5:21,322,975...21,358,198
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RET
ret proto-oncogene
ISO
ClinVar Annotator: match by term: Pilocytic astrocytoma, somatic
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 9:38,746,088...38,798,773
Ensembl chr 9:38,769,170...38,796,712
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SDHA
succinate dehydrogenase complex flavoprotein subunit A
ISO
ClinVar Annotator: match by term: Pilocytic astrocytoma, somatic
ClinVar
PMID:20484225 PMID:21505157 PMID:21752896 PMID:22955521 PMID:22974104 PMID:23174939 PMID:23252569 PMID:23612575 PMID:23666964 PMID:23730622 PMID:24781757 PMID:25494863 PMID:25525159 PMID:25741868 PMID:26113600 PMID:26173966 PMID:26259135 PMID:26269449 PMID:26467025 PMID:26490314 PMID:26689913 PMID:27895137 PMID:28384794 PMID:28492532 PMID:28500238 PMID:28819017 PMID:29177515 PMID:29625052 PMID:29872718 PMID:29978154 PMID:29978187 PMID:30068732 PMID:30877234 PMID:31368675 PMID:31589614 PMID:31827275 PMID:32581362 PMID:32782288 PMID:33077847 PMID:33372952 PMID:33674644 PMID:33960148 PMID:35059314 PMID:35441217 More...
NCBI chr 4:163,726...190,145
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FGFR1
fibroblast growth factor receptor 1
ISO
ClinVar Annotator: match by term: Pilomyxoid astrocytoma
ClinVar
PMID:25705862 PMID:25741868 PMID:26619011 PMID:26942290 PMID:28492532 PMID:33448156 More...
NCBI chr 8:36,426,116...36,485,683
Ensembl chr 8:36,427,110...36,485,508
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EWSR1
EWS RNA binding protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12162413
NCBI chr19:12,138,279...12,169,771
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HES1
hes family bHLH transcription factor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21127729
NCBI chr15:88,220,093...88,222,563
Ensembl chr15:88,220,083...88,223,243
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HEY1
hes related family bHLH transcription factor with YRPW motif 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21127729
NCBI chr 8:75,225,081...75,228,941
Ensembl chr 8:75,224,769...75,228,896
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LOC103219825
protein patched homolog 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9581815
NCBI chr12:107,580,895...107,656,443
Ensembl chr12:107,590,663...107,652,985
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LOC103246803
mismatch repair endonuclease PMS2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15077197
NCBI chr28:15,174,359...15,209,962
Ensembl chr28:15,172,100...15,209,852
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NOTCH2
notch receptor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21127729
NCBI chr20:13,712,140...13,871,777
Ensembl chr20:13,712,292...13,871,784
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PON1
paraoxonase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16002382
NCBI chr21:53,713,434...53,739,658
Ensembl chr21:53,714,012...53,739,875
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SMO
smoothened, frizzled class receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9581815
NCBI chr21:97,788,955...97,814,549
Ensembl chr21:97,788,624...97,814,709
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TSC1
TSC complex subunit 1
ISO
ClinVar Annotator: match by term: Primitive neuroectodermal tumor
ClinVar
PMID:16554133 PMID:21309039 PMID:22703879 PMID:23514105 PMID:25077650 PMID:25498131 PMID:25722345 PMID:25741868 PMID:26467025 PMID:27153395 PMID:28492532 PMID:30076350 PMID:31054281 More...
NCBI chr12:5,195,604...5,249,042
Ensembl chr12:5,195,675...5,244,157
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KIT
KIT proto-oncogene, receptor tyrosine kinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15618851
NCBI chr 7:13,808,104...13,891,003
Ensembl chr 7:13,808,037...13,890,976
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CADM2
cell adhesion molecule 2
ISO
mRNA, protein:decreased expression:retina
RGD
PMID:30320366
RGD:15092072
NCBI chr22:90,879,537...91,994,144
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DICER1
dicer 1, ribonuclease III
exacerbates
ISO
DNA:deletion:haploinsufficiency
RGD
PMID:20019750
RGD:149735324
NCBI chr24:72,915,550...72,986,658
Ensembl chr24:72,915,499...72,963,006
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FANCM
FA complementation group M
ISO
ClinVar Annotator: match by term: Retinoblastoma
ClinVar
PMID:25741868
NCBI chr24:22,255,750...22,327,191
Ensembl chr24:22,256,236...22,329,609
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ITM2B
integral membrane protein 2B
ISO
ClinVar Annotator: match by term: Eye cancer, retinoblastoma | ClinVar Annotator: match by term: Retinoblastoma
ClinVar
PMID:8099255 PMID:12541220 PMID:14722923 PMID:15877282 PMID:17096365 PMID:17301081 PMID:22180099 PMID:23301675 PMID:25741868 PMID:26475597 PMID:28492532 PMID:28575107 PMID:29568217 More...
NCBI chr 3:26,149,429...26,178,172
Ensembl chr 3:26,149,379...26,177,622
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KDM1B
lysine demethylase 1B
ISO
mRNA:increased expression:retina (human)
RGD
PMID:16180235
RGD:9588276
NCBI chr17:53,919,859...53,987,326
Ensembl chr17:53,921,702...53,987,124
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LOC103219825
protein patched homolog 1
ISO
ClinVar Annotator: match by term: Retinoblastoma
ClinVar
PMID:24728327 PMID:25741868 PMID:28492532
NCBI chr12:107,580,895...107,656,443
Ensembl chr12:107,590,663...107,652,985
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LPAR6
lysophosphatidic acid receptor 6
ISO
ClinVar Annotator: match by term: Eye cancer, retinoblastoma | ClinVar Annotator: match by term: Retinoblastoma
ClinVar
PMID:8099255 PMID:12541220 PMID:15877282 PMID:17096365 PMID:17301081 PMID:20090211 PMID:21505449 PMID:22909775 PMID:23301675 PMID:24225018 PMID:25640679 PMID:25741868 PMID:26475597 PMID:27879208 PMID:28492532 PMID:28575107 PMID:29568217 PMID:33456302 PMID:33493472 More...
NCBI chr 3:26,332,770...26,335,289
Ensembl chr 3:26,333,023...26,334,054
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MAX
MYC associated factor X
ISO
ClinVar Annotator: match by term: Retinoblastoma
ClinVar
PMID:25741868 PMID:28492532
NCBI chr24:42,288,891...42,314,711
Ensembl chr24:42,291,106...42,314,605
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MED4
mediator complex subunit 4
ISO
ClinVar Annotator: match by term: Eye cancer, retinoblastoma | ClinVar Annotator: match by term: Retinoblastoma
ClinVar
PMID:8099255 PMID:12541220 PMID:14722923 PMID:15877282 PMID:17096365 PMID:17301081 PMID:22180099 PMID:23301675 PMID:26475597 PMID:28492532 PMID:28575107 PMID:29568217 More...
NCBI chr 3:25,990,203...26,009,472
Ensembl chr 3:25,990,159...26,009,438
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MGMT
O-6-methylguanine-DNA methyltransferase
disease_progression
ISO
DNA:hypermethylation:promoter (human)
RGD
PMID:15799820
RGD:2317684
NCBI chr 9:122,089,768...122,376,320
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MTR
5-methyltetrahydrofolate-homocysteine methyltransferase
susceptibility
ISO
DNA:SNP::2756A>G(human)
RGD
PMID:20310006
RGD:8694083
NCBI chr25:73,935,666...74,039,872
Ensembl chr25:73,935,225...74,038,741
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MUTYH
mutY DNA glycosylase
ISO
ClinVar Annotator: match by term: Retinoblastoma
ClinVar
PMID:25741868 PMID:26467025 PMID:26947005 PMID:28135145 PMID:28492532 PMID:30267214 PMID:33471991 PMID:34326862 More...
NCBI chr20:87,449,480...87,462,329
Ensembl chr20:87,448,986...87,462,265
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NF1
neurofibromin 1
ISO
ClinVar Annotator: match by term: Retinoblastoma
ClinVar
PMID:25741868 PMID:28492532
NCBI chr16:24,550,983...24,836,311
Ensembl chr16:24,550,977...24,836,307
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NUDT15
nudix hydrolase 15
ISO
ClinVar Annotator: match by term: Retinoblastoma
ClinVar
PMID:8099255 PMID:12541220 PMID:14722923 PMID:17096365 PMID:22180099 PMID:23301675 PMID:28492532 PMID:28575107 PMID:29568217 More...
NCBI chr 3:25,966,148...25,974,143
Ensembl chr 3:25,966,876...25,973,647
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PALB2
partner and localizer of BRCA2
ISO
ClinVar Annotator: match by term: Retinoblastoma
ClinVar
PMID:23555315 PMID:25085752 PMID:25741868 PMID:26467025 PMID:28492532 PMID:28873162 PMID:32832836 PMID:32868316 More...
NCBI chr 5:21,322,952...21,358,363
Ensembl chr 5:21,322,975...21,358,198
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RB1
RB transcriptional corepressor 1
ISO
ClinVar Annotator: match by term: Eye cancer, retinoblastoma | ClinVar Annotator: match by term: Retinoblastoma
OMIM ClinVar
PMID:1298292 PMID:1352398 PMID:1352883 PMID:1534305 PMID:1577465 PMID:1662795 PMID:1881452 PMID:2181449 PMID:2594029 PMID:2601691 PMID:2673542 PMID:2748600 PMID:7704558 PMID:7795591 PMID:7881418 PMID:7927327 PMID:7981694 PMID:8049153 PMID:8099255 PMID:8118465 PMID:8217609 PMID:8346255 PMID:8364580 PMID:8605116 PMID:8651278 PMID:8756645 PMID:8776589 PMID:9311732 PMID:9341870 PMID:9400934 PMID:9495340 PMID:9536098 PMID:9632788 PMID:9639842 PMID:9671401 PMID:9973307 PMID:10023315 PMID:10486322 PMID:10617920 PMID:10671068 PMID:10673998 PMID:10882758 PMID:10966849 PMID:10991691 PMID:11189328 PMID:11317357 PMID:11317369 PMID:11333669 PMID:11480772 PMID:11668642 PMID:12016586 PMID:12173465 PMID:12402348 PMID:12502741 PMID:12541220 PMID:12955724 PMID:14516425 PMID:14722923 PMID:14769601 PMID:15166261 PMID:15591264 PMID:15605413 PMID:15643604 PMID:15776430 PMID:15877282 PMID:15884040 PMID:16127685 PMID:16199547 PMID:16269091 PMID:16343894 PMID:16449662 PMID:16463005 PMID:16595082 PMID:16682285 PMID:16988938 PMID:17096365 PMID:17299438 PMID:17301081 PMID:17576681 PMID:17960112 PMID:17996702 PMID:18000883 PMID:18181215 PMID:18449911 PMID:18503160 PMID:18677112 PMID:18682685 PMID:19280657 PMID:19339519 PMID:19390654 PMID:19491728 PMID:19763152 PMID:20041224 PMID:20059380 PMID:20090211 PMID:20301625 PMID:20307669 PMID:20447117 PMID:20594292 PMID:20596833 PMID:20808897 PMID:21402997 PMID:21505449 PMID:21520333 PMID:21538077 PMID:21615945 PMID:21654082 PMID:21763628 PMID:22084214 PMID:22180099 PMID:22205104 PMID:22219649 PMID:22328814 PMID:22406018 PMID:22703879 PMID:22744425 PMID:22909775 PMID:22963398 PMID:23301675 PMID:23474753 PMID:23532519 PMID:23595191 PMID:23820649 PMID:23981928 PMID:24033266 PMID:24078560 PMID:24082139 PMID:24225018 PMID:24282159 PMID:24336570 PMID:24347427 PMID:24448499 PMID:24509483 PMID:24688104 PMID:24728327 PMID:24791139 PMID:24810223 PMID:24888624 PMID:25157968 PMID:25424699 PMID:25525159 PMID:25602518 PMID:25640679 PMID:25712084 PMID:25741868 PMID:25754945 PMID:25758528 PMID:25928201 PMID:25999316 PMID:26084579 PMID:26332594 PMID:26396485 PMID:26475597 PMID:26530098 PMID:26539030 PMID:26580448 PMID:26747767 PMID:26764160 PMID:26787237 PMID:26925970 PMID:26934580 PMID:27021801 PMID:27153395 PMID:27155049 PMID:27283993 PMID:27582626 PMID:27854218 PMID:27879208 PMID:27906792 PMID:27983729 PMID:28137276 PMID:28193182 PMID:28202063 PMID:28301456 PMID:28401291 PMID:28492532 PMID:28575107 PMID:28580595 PMID:28606269 PMID:28724667 PMID:28803391 PMID:28873162 PMID:28875981 PMID:29192238 PMID:29261756 PMID:29316426 PMID:29453956 PMID:29568217 PMID:29607586 PMID:29625052 PMID:29641532 PMID:29662154 PMID:29684080 PMID:30031154 PMID:30181556 PMID:30192042 PMID:30636860 PMID:30773851 PMID:30842500 PMID:31106028 PMID:31158355 PMID:31568710 PMID:31645765 PMID:31772335 PMID:32091409 PMID:32218800 PMID:32835838 PMID:32974172 PMID:33225895 PMID:33258708 PMID:33456302 PMID:33493472 PMID:33606809 PMID:34190019 PMID:34277001 PMID:34294096 PMID:34308366 PMID:34456592 PMID:34478740 PMID:34645364 PMID:34680218 PMID:35534704 More...
NCBI chr 3:26,220,783...26,393,671
Ensembl chr 3:26,220,803...26,394,546
G
SERPINF1
serpin family F member 1
treatment
ISO
human protein and tumor xenograft in a mouse model
RGD
PMID:19832843
RGD:8554870
NCBI chr16:1,408,453...1,424,197
G
SNCG
synuclein gamma
ISO
RGD
PMID:18728752
RGD:6218971
NCBI chr 9:44,907,840...44,914,750
Ensembl chr 9:44,907,728...44,912,510
G
SUCLA2
succinate-CoA ligase ADP-forming subunit beta
ISO
ClinVar Annotator: match by term: Retinoblastoma
ClinVar
PMID:17096365 PMID:28492532
NCBI chr 3:25,889,687...25,951,641
G
CACNA1A
calcium voltage-gated channel subunit alpha1 A
ISO
ClinVar Annotator: match by term: Subependymal giant-cell astrocytoma
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 6:11,883,353...12,307,023
G
RB1
RB transcriptional corepressor 1
ISO
ClinVar Annotator: match by term: Trilateral retinoblastoma
ClinVar
PMID:7704558 PMID:8346255 PMID:8605116 PMID:9400934 PMID:16463005 PMID:17096365 PMID:21763628 PMID:22963398 PMID:24688104 PMID:25157968 PMID:25602518 PMID:25741868 PMID:28492532 PMID:30031154 PMID:33456302 More...
NCBI chr 3:26,220,783...26,393,671
Ensembl chr 3:26,220,803...26,394,546
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all