RGD DISEASE ONTOLOGY - ANNOTATIONS |
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RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
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Term: | connective tissue cancer |
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Accession: | DOID:201
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browse the term
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Definition: | A musculoskeletal system cancer that is located_in connective tissue. (DO) |
Synonyms: | exact_synonym: | mesenchymal tissue malignant neoplasm |
For additional species annotation, visit the
Alliance of Genome Resources.
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TRAF7 |
TNF receptor associated factor 7 |
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ISO |
DNA:missense mutations:multiple |
RGD |
PMID:29148537 |
RGD:151356962 |
NCBI chr 3:39,811,803...39,828,450
Ensembl chr 3:39,810,606...39,828,395
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MMP1 |
matrix metallopeptidase 1 |
susceptibility |
ISO |
DNA:insertion:promoter:g.-1607insG (human) |
RGD |
PMID:17502998 |
RGD:7207034 |
NCBI chr 9:33,411,738...33,420,205
Ensembl chr 9:33,411,065...33,420,076
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BCL2 |
BCL2 apoptosis regulator |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:10861090 |
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NCBI chr 1:158,337,403...158,518,214
Ensembl chr 1:158,337,522...158,518,879
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ATRX |
ATRX chromatin remodeler |
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ISO |
ClinVar Annotator: match by term: Astrocytoma, anaplastic |
ClinVar |
PMID:7697714 PMID:8968741 PMID:18414213 PMID:22995991 PMID:24082139 PMID:24728327 PMID:25741868 PMID:26467025 PMID:28293299 PMID:28492530 PMID:28492532 PMID:29304373 PMID:29602769 PMID:29910053 More...
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NCBI chr X:61,584,028...61,872,341
Ensembl chr X:61,584,848...61,872,287
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KRAS |
KRAS proto-oncogene, GTPase |
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ISO |
mRNA:decreased expression:brain |
RGD |
PMID:19179066 |
RGD:13702872 |
NCBI chr 5:48,508,774...48,546,260
Ensembl chr 5:48,508,811...48,549,358
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TP53 |
tumor protein p53 |
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ISO |
ClinVar Annotator: match by term: Astrocytoma, anaplastic |
ClinVar |
PMID:1349175 PMID:1565143 PMID:1565144 PMID:1591732 PMID:1631137 PMID:2046748 PMID:4122735 PMID:7565304 PMID:7783166 PMID:8401536 PMID:8402598 PMID:8425176 PMID:8550239 PMID:8718514 PMID:8829627 PMID:9218725 PMID:9242456 PMID:9364015 PMID:9667734 PMID:10519380 PMID:10922393 PMID:11370630 PMID:11782540 PMID:12826609 PMID:12885464 PMID:12917626 PMID:15722483 PMID:15781620 PMID:15925506 PMID:15951970 PMID:15958617 PMID:16206219 PMID:16401470 PMID:16494995 PMID:16551709 PMID:16818505 PMID:17015838 PMID:17311302 PMID:17606709 PMID:18511570 PMID:19012332 PMID:19468865 PMID:20128691 PMID:20407015 PMID:20522432 PMID:21059199 PMID:21305319 PMID:21343334 PMID:21519010 PMID:21761402 PMID:22186996 PMID:22672556 PMID:22915647 PMID:23161690 PMID:23246812 PMID:23538418 PMID:24033266 PMID:24122735 PMID:24573247 PMID:24835218 PMID:24857548 PMID:25186627 PMID:25584008 PMID:25619955 PMID:25741868 PMID:25952993 PMID:26014290 PMID:26205489 PMID:26225655 PMID:26230955 PMID:26585234 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:33300245 PMID:33407742 PMID:33840814 PMID:34529667 PMID:34670578 PMID:34709361 PMID:35974385 PMID:36988593 More...
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NCBI chr12:52,939,643...52,953,786
Ensembl chr12:52,939,644...52,953,818
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PALB2 |
partner and localizer of BRCA2 |
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ISO |
ClinVar Annotator: match by term: Anaplastic ependymoma |
ClinVar |
PMID:21285249 PMID:25085752 PMID:25741868 PMID:26315354 PMID:26467025 PMID:26580448 PMID:26689913 PMID:27616075 PMID:28492532 PMID:28678401 PMID:31636395 PMID:33471991 More...
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NCBI chr 3:22,586,881...22,612,837
Ensembl chr 3:22,586,856...22,612,834
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RUNX1 |
RUNX family transcription factor 1 |
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ISO |
ClinVar Annotator: match by term: Anaplastic ependymoma |
ClinVar |
PMID:23753029 PMID:25741868 PMID:26580448 PMID:28492532 PMID:28801348 PMID:29365323 PMID:34166225 More...
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NCBI chr13:198,371,835...198,635,648
Ensembl chr13:198,371,837...198,638,189
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OGG1 |
8-oxoguanine DNA glycosylase |
no_association |
ISO |
associated with Tuberous Sclerosis;DNA:missense mutations: :p.R45Q, p.A85S, p.R229Q (human) associated with Tuberous Sclerosis;DNA:SNP: :p.S326C (rs1052133)(human) associated with Tuberous Sclerosis;mRNA, protein:decreased expression:kidney |
RGD |
PMID:17932460 PMID:19265534 |
RGD:8657154 RGD:8657155 |
NCBI chr13:66,038,669...66,045,478
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PTEN |
phosphatase and tensin homolog |
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ISO |
protein:increased expression:kidney (human) |
RGD |
PMID:22737271 |
RGD:12802360 |
NCBI chr14:99,929,590...100,021,619
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STAT1 |
signal transducer and activator of transcription 1 |
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ISO |
protein:increased serine phosphorylation:kidney |
RGD |
PMID:15994429 |
RGD:2298537 |
NCBI chr15:95,593,201...95,646,324
Ensembl chr15:95,593,211...95,646,260
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STAT3 |
signal transducer and activator of transcription 3 |
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ISO |
protein:increased tyrosine phosphorylation:kidney |
RGD |
PMID:15994429 |
RGD:2298537 |
NCBI chr12:20,407,316...20,471,091
Ensembl chr12:20,407,233...20,472,992
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TSC2 |
TSC complex subunit 2 |
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ISO |
associated with Tuberous Sclerosis;protein:decreased expression, increased threonine phosphorylation:kidney |
RGD |
PMID:19265534 |
RGD:8657154 |
NCBI chr 3:39,898,924...39,935,579
Ensembl chr 3:39,898,925...39,937,371
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MIR542 |
microRNA mir-542 |
disease_progression |
ISO |
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RGD |
PMID:26286747 |
RGD:13782052 |
NCBI chr X:110,382,597...110,382,676
Ensembl chr X:110,382,597...110,382,676
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PIK3R1 |
phosphoinositide-3-kinase regulatory subunit 1 |
severity |
ISO |
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RGD |
PMID:26286747 PMID:26956052 |
RGD:11343921 RGD:13782052 |
NCBI chr16:46,434,757...46,523,626
Ensembl chr16:46,511,521...46,523,609
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POLE |
DNA polymerase epsilon, catalytic subunit |
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ISO |
ClinVar Annotator: match by term: Neuroepithelial neoplasm |
ClinVar |
PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29987844 PMID:33194656 PMID:37990341 More...
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NCBI chr14:22,798,146...22,852,818
Ensembl chr14:22,798,192...22,853,547
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ATM |
ATM serine/threonine kinase |
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ISO |
ClinVar Annotator: match by term: Astroblastoma, MN1-altered |
ClinVar |
PMID:17344846 PMID:20305132 PMID:25741868 PMID:25980754 PMID:26206375 PMID:26467025 PMID:26689913 PMID:26787654 PMID:28135145 PMID:28492532 PMID:28652578 PMID:28779002 PMID:30306255 PMID:30441849 PMID:31159747 PMID:31920950 PMID:32606146 PMID:33471991 PMID:34284872 PMID:35886069 More...
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NCBI chr 9:36,620,656...36,759,555
Ensembl chr 9:36,620,657...36,759,552
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C9H11orf65 |
chromosome 9 C11orf65 homolog |
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ISO |
ClinVar Annotator: match by term: Astroblastoma, MN1-altered |
ClinVar |
PMID:17344846 PMID:20305132 PMID:25741868 PMID:25980754 PMID:26206375 PMID:26467025 PMID:26689913 PMID:26787654 PMID:28135145 PMID:28492532 PMID:28652578 PMID:28779002 PMID:30306255 PMID:30441849 PMID:31159747 PMID:31920950 PMID:32606146 PMID:33471991 PMID:34284872 PMID:35886069 More...
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NCBI chr 9:36,768,819...36,855,318
Ensembl chr 9:36,776,897...36,849,710
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G |
TSC2 |
TSC complex subunit 2 |
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ISO |
ClinVar Annotator: match by term: Astroblastoma, MN1-altered |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 3:39,898,924...39,935,579
Ensembl chr 3:39,898,925...39,937,371
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ATRX |
ATRX chromatin remodeler |
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ISO |
ClinVar Annotator: match by term: Bone osteosarcoma |
ClinVar |
PMID:7697714 PMID:23820649 PMID:24690944 PMID:24805811 PMID:25741868 PMID:28371217 PMID:28492532 More...
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NCBI chr X:61,584,028...61,872,341
Ensembl chr X:61,584,848...61,872,287
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CHEK2 |
checkpoint kinase 2 |
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ISO |
ClinVar Annotator: match by term: Bone osteosarcoma |
ClinVar |
PMID:3313277 PMID:9536098 PMID:10617473 PMID:11053450 PMID:11298456 PMID:11390408 PMID:11461078 PMID:11479205 PMID:11571648 PMID:11719428 PMID:11746983 PMID:11901158 PMID:11967536 PMID:12049740 PMID:12094328 PMID:12454775 PMID:12533788 PMID:12610780 PMID:12690581 PMID:12805407 PMID:14612911 PMID:14618615 PMID:14648717 PMID:14648718 PMID:14648719 PMID:14687034 PMID:15087378 PMID:15095295 PMID:15122511 PMID:15239132 PMID:15466005 PMID:15488637 PMID:15492928 PMID:15520402 PMID:15649950 PMID:15803365 PMID:15810020 PMID:15818573 PMID:16199547 PMID:16257342 PMID:16492927 PMID:16551709 PMID:16574953 PMID:16794575 PMID:16816021 PMID:16835864 PMID:16880452 PMID:16883537 PMID:16914568 PMID:16941491 PMID:16982735 PMID:17085682 PMID:17517688 PMID:17576681 PMID:17698850 PMID:17721994 PMID:18058223 PMID:18085035 PMID:18172190 PMID:18281249 PMID:18381420 PMID:18484200 PMID:18571837 PMID:18706089 PMID:18725878 PMID:18725978 PMID:18759107 PMID:18930998 PMID:18996005 PMID:19030985 PMID:19338683 PMID:19609724 PMID:19768534 PMID:19782031 PMID:19805189 PMID:19876921 PMID:20223004 PMID:20417869 PMID:20713355 PMID:21059199 PMID:21244692 PMID:21356067 PMID:21514219 PMID:21562711 PMID:21618645 PMID:21701879 PMID:21744992 PMID:21778326 PMID:21779515 PMID:21807500 PMID:21876083 PMID:21956126 PMID:21963792 PMID:22006311 PMID:22058216 PMID:22058428 PMID:22114986 PMID:22419737 PMID:22799331 PMID:22811390 PMID:22862163 PMID:22901170 PMID:22994785 PMID:23109706 PMID:23296741 PMID:23318652 PMID:23334666 PMID:23469205 PMID:23552953 PMID:23555315 PMID:23652375 PMID:23713947 PMID:23806170 PMID:23946381 PMID:23960188 PMID:24033266 PMID:24082139 PMID:24113346 PMID:24123366 PMID:24390236 PMID:24506336 PMID:24556621 PMID:24595525 PMID:24599715 PMID:24628946 PMID:24713400 PMID:24728327 PMID:24763289 PMID:24880342 PMID:24884479 PMID:25085752 PMID:25117502 PMID:25186627 PMID:25231023 PMID:25318351 PMID:25431674 PMID:25452411 PMID:25452441 PMID:25503501 PMID:25525159 PMID:25583358 PMID:25629968 PMID:25741868 PMID:25798211 PMID:25884806 PMID:25980754 PMID:26023681 PMID:26083025 PMID:26084796 PMID:26094658 PMID:26270727 PMID:26446916 PMID:26467025 PMID:26483394 PMID:26506619 PMID:26534844 PMID:26580448 PMID:26644315 PMID:26681312 PMID:26687385 PMID:26689913 PMID:26787654 PMID:26822949 PMID:26845104 PMID:26884562 PMID:26976419 PMID:27023146 PMID:27028851 PMID:27039729 PMID:27067391 PMID:27153395 PMID:27223485 PMID:27269948 PMID:27273131 PMID:27296296 PMID:27318168 PMID:27433846 PMID:27442652 PMID:27443514 PMID:27488870 PMID:27498913 PMID:27510020 PMID:27534895 PMID:27553368 PMID:27595995 PMID:27616075 PMID:27621404 PMID:27632928 PMID:27696107 PMID:27708748 PMID:27711073 PMID:27716369 PMID:27751358 PMID:27779110 PMID:27782108 PMID:27783279 PMID:27798748 PMID:27806230 PMID:27878467 PMID:27978560 PMID:28008555 PMID:28051113 PMID:28082821 PMID:28125075 PMID:28135139 PMID:28135145 PMID:28195393 PMID:28211887 PMID:28281021 PMID:28486781 PMID:28492532 PMID:28495237 PMID:28503720 PMID:28514723 PMID:28553140 PMID:28569743 PMID:28580595 PMID:28709830 PMID:28724667 PMID:28726808 PMID:28727877 PMID:28734145 PMID:28779002 PMID:28802053 PMID:28825054 PMID:28828701 PMID:28873162 PMID:28874143 PMID:28888541 PMID:28944238 PMID:28961279 PMID:28981386 PMID:29020732 PMID:29095881 PMID:29212164 PMID:29335925 PMID:29338689 PMID:29351919 PMID:29356917 PMID:29368341 PMID:29406849 PMID:29439820 PMID:29470806 PMID:29484706 PMID:29489754 PMID:29506128 PMID:29520813 PMID:29522266 PMID:29555771 PMID:29596542 PMID:29659569 PMID:29667044 PMID:29752822 PMID:29758562 PMID:29785007 PMID:29785153 PMID:29875428 PMID:29902706 PMID:29909568 PMID:29915322 PMID:29922827 PMID:29945567 PMID:29958926 PMID:29961768 PMID:29978187 PMID:29987844 PMID:30067863 PMID:30128536 PMID:30152102 PMID:30256826 PMID:30262796 PMID:30264118 PMID:30269267 PMID:30287823 PMID:30303537 PMID:30322717 PMID:30322893 PMID:30344923 PMID:30374176 PMID:30426508 PMID:30441849 PMID:30447919 PMID:30580288 PMID:30613976 PMID:30666157 PMID:30672594 PMID:30676620 PMID:30680046 PMID:30826992 PMID:30851065 PMID:30858171 PMID:30927251 PMID:30980208 PMID:31050813 PMID:31090900 PMID:31159747 PMID:31206626 PMID:31214250 PMID:31214711 PMID:31220302 PMID:31263054 PMID:31263571 PMID:31300551 PMID:31341520 PMID:31360903 PMID:31398194 PMID:31409080 PMID:31415627 PMID:31422574 PMID:31447099 PMID:31472684 PMID:31512090 PMID:31589614 PMID:31614935 PMID:31742824 PMID:31780696 PMID:31784482 PMID:31786208 PMID:31811167 PMID:31843900 PMID:31844177 PMID:31871109 PMID:31871297 PMID:31874108 PMID:31948886 PMID:31980526 PMID:31993860 PMID:32029870 PMID:32091409 PMID:32119081 PMID:32227564 PMID:32243226 PMID:32255556 PMID:32283892 PMID:32285038 PMID:32295079 PMID:32310333 PMID:32338768 PMID:32383162 PMID:32521533 PMID:32531112 PMID:32546565 PMID:32566746 PMID:32598223 PMID:32658311 PMID:32659967 PMID:32773770 PMID:32805687 PMID:32830346 PMID:32832836 PMID:32875559 PMID:32881420 PMID:32885271 PMID:32900738 PMID:32906215 PMID:32923877 PMID:32957588 PMID:32959997 PMID:32975687 PMID:33030641 PMID:33077847 PMID:33128190 PMID:33134171 PMID:33158149 PMID:33179747 PMID:33193653 PMID:33298767 PMID:33309985 PMID:33326660 PMID:33471974 PMID:33471991 PMID:33558524 PMID:33606978 PMID:33670479 PMID:33692755 PMID:33726816 PMID:33803639 PMID:33804961 PMID:33919281 PMID:33925588 PMID:33980423 PMID:33986034 PMID:34008015 PMID:34072659 PMID:34130653 PMID:34271781 PMID:34282249 PMID:34299313 PMID:34308366 PMID:34326862 PMID:34404389 PMID:34426522 PMID:34433815 PMID:34570182 PMID:34622392 PMID:34630562 PMID:34637943 PMID:34903604 PMID:34933735 PMID:34992046 PMID:35053600 PMID:35127508 PMID:35128723 PMID:35132179 PMID:35174967 PMID:35220195 PMID:35245693 PMID:35264596 PMID:35350808 PMID:35402282 PMID:35418818 PMID:35441217 PMID:35451682 PMID:35467778 PMID:35495172 PMID:35534704 PMID:35643632 PMID:35866394 PMID:35886069 PMID:35957908 PMID:36011273 PMID:36035419 PMID:36136322 PMID:36222830 PMID:36315097 PMID:36360192 PMID:36468172 PMID:36623239 PMID:36653541 PMID:36717774 PMID:36744932 PMID:36833268 PMID:36845387 PMID:36856935 PMID:36988593 PMID:37031196 PMID:37055167 PMID:37065479 PMID:37149759 PMID:37262986 PMID:37449874 PMID:37490054 PMID:37628581 PMID:37842866 PMID:37932350 PMID:38002677 PMID:38061684 PMID:38075165 PMID:38091153 PMID:38093606 PMID:38313678 More...
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NCBI chr14:45,699,833...45,967,350
Ensembl chr14:45,929,715...45,967,290
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G |
EFEMP2 |
EGF containing fibulin extracellular matrix protein 2 |
disease_progression exacerbates |
ISO |
protein:increased expression:bone tissue (human) mRNA, protein:increased expression:bone tissue (human ) |
RGD |
PMID:27157136 PMID:28339091 |
RGD:42722011 RGD:42722013 |
NCBI chr 2:6,455,155...6,463,493
Ensembl chr 2:6,450,332...6,463,486
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G |
RB1 |
RB transcriptional corepressor 1 |
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ISO |
ClinVar Annotator: match by term: Bone osteosarcoma |
ClinVar |
PMID:1352883 PMID:2594029 PMID:2601691 PMID:7881418 PMID:8651278 PMID:9311732 PMID:9632788 PMID:9671401 PMID:9973307 PMID:10486322 PMID:10966849 PMID:12016586 PMID:12541220 PMID:12955724 PMID:14722923 PMID:15605413 PMID:15643604 PMID:15776430 PMID:15884040 PMID:16269091 PMID:16449662 PMID:16463005 PMID:17096365 PMID:17960112 PMID:18000883 PMID:18677112 PMID:18682685 PMID:20041224 PMID:20447117 PMID:21763628 PMID:22205104 PMID:22328814 PMID:22963398 PMID:23532519 PMID:24225018 PMID:24688104 PMID:24791139 PMID:25525159 PMID:25602518 PMID:25741868 PMID:25754945 PMID:25758528 PMID:26396485 PMID:26530098 PMID:26580448 PMID:26787237 PMID:26925970 PMID:27582626 PMID:27983729 PMID:28492532 PMID:28575107 PMID:28724667 PMID:28873162 PMID:29261756 PMID:29568217 PMID:30031154 PMID:32218800 PMID:33493472 PMID:34294096 PMID:34308366 More...
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NCBI chr11:19,186,754...19,317,642
Ensembl chr11:19,186,761...19,317,690
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G |
TP53 |
tumor protein p53 |
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ISO |
ClinVar Annotator: match by term: Bone osteosarcoma |
ClinVar |
PMID:1565143 PMID:1565144 PMID:1591732 PMID:1631137 PMID:1683921 PMID:1975675 PMID:1978757 PMID:1999338 PMID:2046748 PMID:2932480 PMID:4122735 PMID:7565304 PMID:7651740 PMID:7732013 PMID:7783166 PMID:7887414 PMID:8023157 PMID:8062826 PMID:8118819 PMID:8164043 PMID:8242752 PMID:8401536 PMID:8423216 PMID:8425176 PMID:8479749 PMID:8550239 PMID:8633021 PMID:8718514 PMID:8825920 PMID:9047394 PMID:9218725 PMID:9242456 PMID:9364015 PMID:9399838 PMID:9546439 PMID:9572492 PMID:9582268 PMID:9607760 PMID:9627118 PMID:9662334 PMID:9667734 PMID:9704930 PMID:9704931 PMID:9891044 PMID:10229196 PMID:10411893 PMID:10432928 PMID:10486318 PMID:10519380 PMID:10589545 PMID:10797439 PMID:10802655 PMID:10864200 PMID:10922393 PMID:11139324 PMID:11180592 PMID:11370630 PMID:11403041 PMID:11479205 PMID:11481490 PMID:11521785 PMID:11600572 PMID:11753428 PMID:11782540 PMID:12007217 PMID:12019170 PMID:12085209 PMID:12567188 PMID:12619118 PMID:12672316 PMID:12826609 PMID:12885464 PMID:12917626 PMID:14743206 PMID:15037740 PMID:15121773 PMID:15355915 PMID:15381368 PMID:15390294 PMID:15607980 PMID:15607981 PMID:15722483 PMID:15741269 PMID:15781620 PMID:15925506 PMID:15951970 PMID:15977174 PMID:16033918 PMID:16199549 PMID:16258005 PMID:16401470 PMID:16489069 PMID:16494995 PMID:16551709 PMID:16682957 PMID:16750598 PMID:16818505 PMID:16861262 PMID:16933305 PMID:16964264 PMID:16969106 PMID:17015838 PMID:17308077 PMID:17311302 PMID:17535973 PMID:17540308 PMID:17567834 PMID:17599946 PMID:17606709 PMID:17636407 PMID:17638920 PMID:17940213 PMID:18248785 PMID:18270399 PMID:18307025 PMID:18373486 PMID:18511570 PMID:18685109 PMID:18940924 PMID:18989156 PMID:19046423 PMID:19101993 PMID:19127115 PMID:19367569 PMID:19454241 PMID:19521721 PMID:19556618 PMID:19711436 PMID:19714490 PMID:19717094 PMID:19850740 PMID:19877175 PMID:19881536 PMID:20028212 PMID:20113312 PMID:20127978 PMID:20128691 PMID:20301488 PMID:20407015 PMID:20436704 PMID:20455025 PMID:20516128 PMID:20520810 PMID:20522432 PMID:20586629 PMID:20593220 PMID:20689556 PMID:20693561 PMID:20805372 PMID:21118481 PMID:21187651 PMID:21192060 PMID:21232794 PMID:21305319 PMID:21343334 PMID:21356188 PMID:21440489 PMID:21445056 PMID:21445348 PMID:21464421 PMID:21468523 PMID:21484931 PMID:21519010 PMID:21535297 PMID:21552135 PMID:21601526 PMID:21619694 PMID:21630152 PMID:21665182 PMID:21665242 PMID:21672450 PMID:21761402 PMID:22004116 PMID:22006311 PMID:22110706 PMID:22170717 PMID:22186996 PMID:22233476 PMID:22455664 PMID:22619358 PMID:22653678 PMID:22703879 PMID:22729912 PMID:22744426 PMID:22811390 PMID:22822097 PMID:22869713 PMID:22887876 PMID:22915647 PMID:22923379 PMID:23031740 PMID:23056559 PMID:23161690 PMID:23172776 PMID:23175693 PMID:23246812 PMID:23259501 PMID:23263379 PMID:23469205 PMID:23484829 PMID:23538418 PMID:23570263 PMID:23624782 PMID:23630318 PMID:23639312 PMID:23713777 PMID:23733769 PMID:23792586 PMID:23794094 PMID:23887774 PMID:23894400 PMID:24033266 PMID:24065105 PMID:24076587 PMID:24122735 PMID:24382691 PMID:24501221 PMID:24573247 PMID:24590827 PMID:24651012 PMID:24677579 PMID:24702488 PMID:24728327 PMID:24764719 PMID:24810334 PMID:24835218 PMID:24884479 PMID:24936644 PMID:25059482 PMID:25256166 PMID:25326637 PMID:25404506 PMID:25584008 PMID:25612911 PMID:25736369 PMID:25741868 PMID:25765855 PMID:25773284 PMID:25787918 PMID:25896519 PMID:25945745 PMID:25952993 PMID:26014290 PMID:26205489 PMID:26225655 PMID:26230955 PMID:26332594 PMID:26425688 PMID:26452166 PMID:26467025 PMID:26572807 PMID:26580448 PMID:26585234 PMID:26681051 PMID:26681312 PMID:26681682 PMID:26718964 PMID:26786923 PMID:26822237 PMID:26845104 PMID:26911350 PMID:27022024 PMID:27081505 PMID:27101110 PMID:27146902 PMID:27153395 PMID:27189670 PMID:27223487 PMID:27276561 PMID:27311873 PMID:27328919 PMID:27374712 PMID:27463065 PMID:27501770 PMID:27516001 PMID:27601191 PMID:27621308 PMID:27622479 PMID:27663983 PMID:27680515 PMID:27683180 PMID:27714481 PMID:27895058 PMID:27959731 PMID:27993330 PMID:28152038 PMID:28154273 PMID:28279309 PMID:28349240 PMID:28369373 PMID:28387921 PMID:28453743 PMID:28453760 PMID:28472496 PMID:28492532 PMID:28573494 PMID:28664506 PMID:28724667 PMID:28756477 PMID:28780976 PMID:28861920 PMID:28864397 PMID:28873162 PMID:28968711 PMID:28975465 PMID:28984303 PMID:29070607 PMID:29300620 PMID:29324801 PMID:29392648 PMID:29478780 PMID:29489754 PMID:29522266 PMID:29575851 PMID:29753700 PMID:29922827 PMID:29956451 PMID:29979965 PMID:30042151 PMID:30076369 PMID:30092803 PMID:30107858 PMID:30147334 PMID:30224644 PMID:30287823 PMID:30327374 PMID:30352134 PMID:30588330 PMID:30596752 PMID:30630526 PMID:30709381 PMID:30816478 PMID:30840781 PMID:30851333 PMID:30982232 PMID:31081129 PMID:31089155 PMID:31105275 PMID:31321604 PMID:31472337 PMID:31494577 PMID:31567591 PMID:31742824 PMID:31744167 PMID:31748977 PMID:31775759 PMID:31845386 PMID:31882575 PMID:31978118 PMID:31983162 PMID:32000721 PMID:32039725 PMID:32156018 PMID:32292755 PMID:32322420 PMID:32427313 PMID:32475984 PMID:32592449 PMID:32658383 PMID:32671623 PMID:32817165 PMID:32832836 PMID:32888145 PMID:32906206 PMID:32980694 PMID:32986223 PMID:33087929 PMID:33163847 PMID:33245408 PMID:33257846 PMID:33258288 PMID:33300245 PMID:33372952 PMID:33471991 PMID:33603772 PMID:33637564 PMID:33840814 PMID:34088725 PMID:34166060 PMID:34240179 PMID:34249098 PMID:34299313 PMID:34503094 PMID:34529667 PMID:34540492 PMID:34670578 PMID:34709361 PMID:34754157 PMID:34885220 PMID:35043155 PMID:35367578 PMID:35802772 PMID:35974385 PMID:36003761 PMID:36008825 PMID:36309086 PMID:36329109 PMID:36988593 PMID:37653074 PMID:39060302 More...
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NCBI chr12:52,939,643...52,953,786
Ensembl chr12:52,939,644...52,953,818
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TSC2 |
TSC complex subunit 2 |
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ISO |
ClinVar Annotator: match by term: Bone osteosarcoma |
ClinVar |
PMID:25741868 PMID:26822237 |
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NCBI chr 3:39,898,924...39,935,579
Ensembl chr 3:39,898,925...39,937,371
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EEF2 |
eukaryotic translation elongation factor 2 |
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ISO |
protein:increased expression:brain (human) |
RGD |
PMID:24589652 |
RGD:153297816 |
NCBI chr 2:74,746,541...74,756,687
Ensembl chr 2:74,747,080...74,756,680
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MIR139 |
microRNA mir-139 |
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ISO |
RNA:decreased expression:brain: |
RGD |
PMID:26449464 |
RGD:13838722 |
NCBI chr 9:7,175,314...7,175,381
Ensembl chr 9:7,175,308...7,175,385
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NCAM1 |
neural cell adhesion molecule 1 |
disease_progression |
ISO |
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RGD |
PMID:20219118 |
RGD:40924672 |
NCBI chr 9:40,628,602...40,960,605
Ensembl chr 9:40,628,631...40,960,591
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SUFU |
SUFU negative regulator of hedgehog signaling |
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ISO |
human, rat, and/or mouse glioma cells in a mouse model |
RGD |
PMID:30790292 |
RGD:150573813 |
NCBI chr14:113,500,001...113,628,064
Ensembl chr14:113,500,842...113,626,003
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BAX |
BCL2 associated X, apoptosis regulator |
treatment |
ISO |
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RGD |
PMID:27255231 PMID:29324390 |
RGD:13792502 RGD:13792598 |
NCBI chr 6:54,222,341...54,228,150
Ensembl chr 6:54,222,336...54,228,147
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BCL2 |
BCL2 apoptosis regulator |
treatment |
ISO |
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RGD |
PMID:27255231 PMID:29324390 |
RGD:13792502 RGD:13792598 |
NCBI chr 1:158,337,403...158,518,214
Ensembl chr 1:158,337,522...158,518,879
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BIRC3 |
baculoviral IAP repeat containing 3 |
exacerbates |
ISO |
mRNA:increased expression:brain (human) |
RGD |
PMID:31964418 |
RGD:153344516 |
NCBI chr 9:33,003,570...33,020,252
Ensembl chr 9:33,002,734...33,020,242
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BIRC5 |
baculoviral IAP repeat containing 5 |
exacerbates |
ISO |
mRNA:increased expression:brain (human) |
RGD |
PMID:31964418 |
RGD:153344516 |
NCBI chr12:3,747,276...3,755,214
Ensembl chr12:3,747,279...3,755,215
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BST2 |
bone marrow stromal cell antigen 2 |
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ISO |
mRNA,protein:increased expression:brain: |
RGD |
PMID:21565182 |
RGD:14398497 |
NCBI chr 2:60,305,306...60,308,295
Ensembl chr 2:60,305,283...60,309,697
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CASP3 |
caspase 3 |
treatment |
ISO |
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RGD |
PMID:29324390 |
RGD:13792598 |
NCBI chr15:45,744,320...45,753,252
Ensembl chr15:45,742,751...45,764,213
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FADD |
Fas associated via death domain |
treatment |
ISO |
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RGD |
PMID:27255231 |
RGD:13792502 |
NCBI chr 2:3,191,718...3,194,820
Ensembl chr 2:3,185,675...3,194,818
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FAS |
Fas cell surface death receptor |
treatment |
ISO |
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RGD |
PMID:29324390 |
RGD:13792598 |
NCBI chr14:100,927,305...100,954,781
Ensembl chr14:100,927,089...100,956,716
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FASLG |
Fas ligand |
treatment |
ISO |
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RGD |
PMID:29324390 |
RGD:13792598 |
NCBI chr 9:115,068,314...115,075,147
Ensembl chr 9:115,068,090...115,076,464
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FOXA1 |
forkhead box A1 |
disease_progression |
ISO |
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RGD |
PMID:23510544 |
RGD:151665742 |
NCBI chr 7:62,471,233...62,479,638
Ensembl chr 7:62,471,249...62,479,220
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GAPDH |
glyceraldehyde-3-phosphate dehydrogenase |
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ISO |
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RGD |
PMID:26032618 |
RGD:13792685 |
NCBI chr 5:64,129,678...64,135,194
Ensembl chr 5:64,129,679...64,133,991
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KDR |
kinase insert domain receptor |
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ISO |
protein:increased expression:brain (human) |
RGD |
PMID:33900414 |
RGD:151660356 |
NCBI chr 8:41,809,116...41,856,379
Ensembl chr 8:41,809,122...41,856,336
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MIR21 |
microRNA mir-21 |
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ISO |
human cells in mouse model; RNA:increased expression:brain (human) |
RGD |
PMID:25059666 |
RGD:152998875 |
NCBI chr12:36,065,267...36,065,358
Ensembl chr12:36,065,267...36,065,358
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NAIP |
NLR family apoptosis inhibitory protein |
exacerbates |
ISO |
mRNA:increased expression:brain (human) |
RGD |
PMID:31964418 |
RGD:153344516 |
NCBI chr16:47,700,869...47,710,036
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PTPRB |
protein tyrosine phosphatase receptor type B |
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ISO |
protein:increased expression:brain (human) human cell in mouse model |
RGD |
PMID:16923162 PMID:33900414 |
RGD:151660356 RGD:151660368 |
NCBI chr 5:34,656,460...34,794,838
Ensembl chr 5:34,659,964...34,794,289
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VEGFA |
vascular endothelial growth factor A |
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ISO |
protein:increased expression:brain (human) |
RGD |
PMID:33900414 |
RGD:151660356 |
NCBI chr 7:38,746,393...38,762,282
Ensembl chr 7:38,746,052...38,761,366
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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 6:50,403,691...50,425,730
Ensembl chr 6:50,403,689...50,425,729
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XRCC3 |
X-ray repair cross complementing 3 |
susceptibility |
ISO |
DNA:SNP:exon 8: p.T241M (rs861539) (Human) |
RGD |
PMID:18330515 |
RGD:401827274 |
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PAX3 |
paired box 3 |
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ISO |
mRNA,protein:increased expression:brain stem: |
RGD |
PMID:25330836 |
RGD:13702891 |
NCBI chr15:124,093,803...124,193,041
Ensembl chr15:124,094,295...124,193,011
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PDGFRA |
platelet derived growth factor receptor alpha |
severity |
ISO |
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RGD |
PMID:20197468 |
RGD:13702892 |
NCBI chr 8:40,966,568...41,021,440
Ensembl chr 8:40,967,493...41,021,441
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MSH6 |
mutS homolog 6 |
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ISO |
ClinVar Annotator: match by term: Cerebellar medulloblastoma |
ClinVar |
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NCBI chr 3:92,792,590...92,814,154
Ensembl chr 3:92,785,664...92,814,238
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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 chr17:62,611,844...62,636,628
Ensembl chr17:62,611,909...62,634,690
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MAPK1 |
mitogen-activated protein kinase 1 |
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ISO |
protein:increased expression:brain: |
RGD |
PMID:21466243 |
RGD:13702864 |
NCBI chr14:50,083,079...50,165,528
Ensembl chr14:50,082,896...50,165,513
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CHI3L1 |
chitinase 3 like 1 |
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ISO |
mRNA:increased expression:tumor (human) |
RGD |
PMID:12598313 |
RGD:4892624 |
NCBI chr 9:113,885,541...113,895,033
Ensembl chr 9:113,885,542...113,895,131
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COL2A1 |
collagen type II alpha 1 chain |
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ISO |
CTD Direct Evidence: marker/mechanism DNA:mutations:multiple (human) |
CTD RGD |
PMID:23770606 |
RGD:8657387 |
NCBI chr 5:78,350,131...78,380,893
Ensembl chr 5:78,350,137...78,380,718
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EXT1 |
exostosin glycosyltransferase 1 |
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ISO |
ClinVar Annotator: match by term: Chondrosarcoma | ClinVar Annotator: match by term: Chondrosarcoma, somatic |
OMIM ClinVar |
PMID:7550340 PMID:8981950 PMID:9326317 PMID:9463333 PMID:9521425 PMID:9620772 PMID:10639137 PMID:10679296 PMID:10679937 PMID:10713884 PMID:11170095 PMID:11391482 PMID:11432960 PMID:15586175 PMID:16088908 PMID:16283885 PMID:17301954 PMID:18165274 PMID:18330718 PMID:18373409 PMID:19810120 PMID:20418910 PMID:22258776 PMID:23262345 PMID:23439489 PMID:24728327 PMID:25230886 PMID:25468659 PMID:25541963 PMID:25727835 PMID:25741868 PMID:26239617 PMID:26961984 PMID:28492532 PMID:29126381 PMID:29529714 PMID:30806661 More...
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NCBI chr 4:20,645,002...20,935,769
Ensembl chr 4:20,645,610...20,935,540
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FGFR3 |
fibroblast growth factor receptor 3 |
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ISO |
protein:increased expression:growth plate |
RGD |
PMID:17907424 |
RGD:11568634 |
NCBI chr 8:879,151...894,968
Ensembl chr 8:879,159...894,964
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MTOR |
mechanistic target of rapamycin kinase |
disease_progression |
ISO |
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RGD |
PMID:22761648 |
RGD:10040952 |
NCBI chr 6:71,286,989...71,412,913
Ensembl chr 6:71,286,989...71,412,888
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TAF15 |
TATA-box binding protein associated factor 15 |
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ISO |
extraskeletal myxoid chondrosarcomas (EMC) |
RGD |
PMID:10602519 |
RGD:1599281 |
NCBI chr12:39,687,171...39,716,761
Ensembl chr12:39,686,884...39,724,769
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PRKCA |
protein kinase C alpha |
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ISO |
DNA:mutation:cds:c.1387G>C,p.D463H(human) |
RGD |
PMID:29476136 |
RGD:13782058 |
NCBI chr12:12,882,287...13,268,647
Ensembl chr12:12,882,064...13,263,554
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BRCA2 |
BRCA2 DNA repair associated |
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ISO |
ClinVar Annotator: match by term: Chordoma |
ClinVar |
PMID:186727 PMID:10923033 PMID:11304778 PMID:11873550 PMID:11920621 PMID:12100744 PMID:12161607 PMID:12228710 PMID:12442265 PMID:12442273 PMID:12774040 PMID:15172753 PMID:15645491 PMID:15800311 PMID:15944772 PMID:16205630 PMID:16683254 PMID:17018160 PMID:17924331 PMID:17997147 PMID:18256760 PMID:18451181 PMID:19043619 PMID:19200354 PMID:19563646 PMID:19656415 PMID:20104584 PMID:21120943 PMID:21520333 PMID:21638052 PMID:21702907 PMID:21719596 PMID:21952622 PMID:21990134 PMID:22194698 PMID:22366370 PMID:22476429 PMID:22703879 PMID:22798144 PMID:22811390 PMID:23108138 PMID:24212087 PMID:24249303 PMID:24259538 PMID:24323938 PMID:24448499 PMID:24489791 PMID:24504028 PMID:24556621 PMID:24728189 PMID:24728327 PMID:25447315 PMID:25682074 PMID:25741868 PMID:25782689 PMID:25863477 PMID:25948282 PMID:26109977 PMID:26145171 PMID:26287763 PMID:26467025 PMID:26681312 PMID:27062684 PMID:27153395 PMID:27376475 PMID:27616075 PMID:28492532 PMID:29348823 PMID:29394989 PMID:29446198 PMID:29785135 PMID:29884841 PMID:29988080 PMID:30032850 PMID:30287823 PMID:30309222 PMID:30447919 PMID:30702160 PMID:31060523 PMID:31131967 PMID:31214711 PMID:31409081 PMID:31742824 PMID:31843900 PMID:31911673 PMID:32885271 PMID:33293522 PMID:33372952 PMID:33471991 PMID:33609447 PMID:34178674 PMID:34350294 PMID:34970085 PMID:35665744 PMID:35736817 PMID:35762214 PMID:36627197 PMID:36721989 PMID:36988593 PMID:37922907 PMID:38153744 More...
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NCBI chr11:8,805,950...8,858,128
Ensembl chr11:8,805,913...8,857,793
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PALB2 |
partner and localizer of BRCA2 |
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ISO |
ClinVar Annotator: match by term: Chordoma |
ClinVar |
PMID:25085752 PMID:25741868 PMID:26283626 PMID:26315354 PMID:26467025 PMID:27106063 PMID:27443514 PMID:28492532 PMID:28779002 PMID:29522266 PMID:30303537 PMID:30680046 PMID:31636395 PMID:32546565 PMID:33471991 PMID:34284872 PMID:35762214 More...
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NCBI chr 3:22,586,881...22,612,837
Ensembl chr 3:22,586,856...22,612,834
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TBXT |
T-box transcription factor T |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19801981 PMID:23064415 |
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NCBI chr 1:2,717,165...2,725,561
Ensembl chr 1:2,717,165...2,725,601
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ACOD1 |
aconitate decarboxylase 1 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr11:49,077,152...49,088,218
Ensembl chr11:49,077,492...49,087,104
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ALG11 |
ALG11 alpha-1,2-mannosyltransferase |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr11:15,851,352...15,876,452
Ensembl chr11:15,857,367...15,876,405
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ARL11 |
ARF like GTPase 11 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr11:18,097,723...18,100,425
Ensembl chr11:18,095,974...18,099,819
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ATP7B |
ATPase copper transporting beta |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr11:15,892,549...15,942,070
Ensembl chr11:15,876,612...15,942,064
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BORA |
BORA aurora kinase A activator |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr11:45,017,651...45,045,127
Ensembl chr11:45,018,333...45,045,126
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G |
CAB39L |
calcium binding protein 39 like |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr11:18,297,669...18,400,398
Ensembl chr11:18,313,796...18,401,235
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G |
CCDC70 |
coiled-coil domain containing 70 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr11:15,976,814...15,978,050
Ensembl chr11:15,977,289...15,977,945
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G |
CDADC1 |
cytidine and dCMP deaminase domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr11:18,467,508...18,518,137
Ensembl chr11:18,458,301...18,518,146
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G |
CKAP2 |
cytoskeleton associated protein 2 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr11:15,751,717...15,767,068
Ensembl chr11:15,751,808...15,768,046
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G |
CLN5 |
CLN5 intracellular trafficking protein |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr11:49,105,822...49,128,425
Ensembl chr11:49,105,878...49,129,886
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G |
CNMD |
chondromodulin |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr11:25,959,192...25,994,773
Ensembl chr11:25,961,926...25,994,651
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G |
COMMD6 |
COMM domain containing 6 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr11:47,795,110...47,818,543
Ensembl chr11:47,543,814...47,818,561
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G |
CYSLTR2 |
cysteinyl leukotriene receptor 2 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr11:18,988,665...19,011,015
Ensembl chr11:18,987,174...19,011,015
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G |
DACH1 |
dachshund family transcription factor 1 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr11:43,765,386...44,187,766
Ensembl chr11:43,764,271...44,187,821
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G |
DIAPH3 |
diaphanous related formin 3 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr11:32,492,735...32,994,854
Ensembl chr11:32,492,740...32,994,844
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G |
DIS3 |
DIS3 homolog, exosome endoribonuclease and 3'-5' exoribonuclease |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr11:45,046,040...45,075,973
Ensembl chr11:45,044,508...45,075,963
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G |
DLEU7 |
deleted in lymphocytic leukemia 7 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr11:16,970,802...16,990,609
Ensembl chr11:16,972,554...16,989,488
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G |
EBPL |
EBP like |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr11:18,039,978...18,150,729
Ensembl chr11:18,040,011...18,072,633
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G |
EDNRB |
endothelin receptor type B |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr11:50,073,300...50,102,879
Ensembl chr11:50,072,554...50,102,884
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G |
FAM124A |
family with sequence similarity 124 member A |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr11:16,572,298...16,658,094
Ensembl chr11:16,572,302...16,658,162
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G |
FBXL3 |
F-box and leucine rich repeat protein 3 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr11:49,131,663...49,151,380
Ensembl chr11:49,131,665...49,151,009
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G |
FNDC3A |
fibronectin type III domain containing 3A |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr11:18,564,280...18,757,742
Ensembl chr11:18,564,280...18,757,869
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G |
INTS6 |
integrator complex subunit 6 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr11:16,373,376...16,468,246
Ensembl chr11:16,375,452...16,465,635
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G |
ITM2B |
integral membrane protein 2B |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr11:19,349,088...19,377,931
Ensembl chr11:19,349,134...19,377,917
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G |
KCNRG |
potassium channel regulator |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr11:17,784,243...17,796,826
Ensembl chr11:17,784,998...17,794,710
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G |
KCTD12 |
potassium channel tetramerization domain containing 12 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr11:49,025,134...49,033,208
Ensembl chr11:49,025,131...49,031,309
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G |
KLF12 |
KLF transcription factor 12 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr11:45,981,096...46,655,472
Ensembl chr11:45,985,564...46,459,791
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G |
KLF5 |
KLF transcription factor 5 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr11:45,370,009...45,386,673
Ensembl chr11:45,369,810...45,388,314
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G |
KLHL1 |
kelch like family member 1 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr11:42,033,842...42,420,931
Ensembl chr11:42,033,851...42,419,734
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G |
KPNA3 |
karyopherin subunit alpha 3 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr11:17,948,210...18,033,818
Ensembl chr11:17,948,210...18,031,946
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G |
LMO7 |
LIM domain 7 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr11:47,911,076...48,133,449
Ensembl chr11:48,072,159...48,133,446
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G |
LOC100155738 |
protocadherin-8 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr11:26,127,398...26,133,481
Ensembl chr11:26,127,401...26,132,123
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G |
LOC106505279 |
uncharacterized LOC106505279 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr11:16,021,127...16,034,650
Ensembl chr11:15,997,827...16,034,395
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G |
LPAR6 |
lysophosphatidic acid receptor 6 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr11:19,216,305...19,220,913
Ensembl chr11:19,219,077...19,220,347
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G |
MED4 |
mediator complex subunit 4 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr11:19,551,858...19,566,915
Ensembl chr11:19,551,863...19,566,926
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G |
MIR15A |
microRNA mir-15a |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr11:17,757,463...17,757,541
Ensembl chr11:17,757,460...17,757,554
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G |
MIR16-2 |
microRNA mir-16-2 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr11:17,757,606...17,757,684
Ensembl chr11:17,757,601...17,757,687
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G |
MLNR |
motilin receptor |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr11:18,541,958...18,544,111
Ensembl chr11:18,542,028...18,544,112
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G |
MYCBP2 |
MYC binding protein 2 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
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NCBI chr11:49,163,969...49,432,865
Ensembl chr11:49,163,684...49,432,583
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G |
MZT1 |
mitotic spindle organizing protein 1 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr11:45,000,735...45,019,009
Ensembl chr11:44,999,320...45,018,862
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G |
NDFIP2 |
Nedd4 family interacting protein 2 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
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NCBI chr11:51,493,981...51,560,305
Ensembl chr11:51,420,166...51,560,305
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G |
NEK3 |
NIMA related kinase 3 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
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NCBI chr11:15,772,578...15,798,424
Ensembl chr11:15,772,844...15,798,420
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G |
NEK5 |
NIMA related kinase 5 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr11:15,799,068...15,862,236
Ensembl chr11:15,806,017...15,862,228
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G |
NUDT15 |
nudix hydrolase 15 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr11:19,572,963...19,584,565
Ensembl chr11:19,572,644...19,584,528
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G |
OBI1 |
ORC ubiquitin ligase 1 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr11:50,741,893...50,786,824
Ensembl chr11:50,740,916...50,786,774
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G |
OLFM4 |
olfactomedin 4 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr11:26,252,948...26,375,531
Ensembl chr11:26,350,203...26,375,716
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G |
PCDH17 |
protocadherin 17 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr11:30,510,779...30,611,732
Ensembl chr11:30,511,275...30,611,727
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G |
PCDH20 |
protocadherin 20 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
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NCBI chr11:34,384,507...34,390,265
Ensembl chr11:34,384,511...34,389,730
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G |
PCDH9 |
protocadherin 9 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr11:38,522,221...39,455,166
Ensembl chr11:38,523,033...39,453,741
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G |
PHF11 |
PHD finger protein 11 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr11:18,205,073...18,252,082
Ensembl chr11:18,205,078...18,251,948
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G |
PIBF1 |
progesterone immunomodulatory binding factor 1 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr11:45,076,046...45,362,708
Ensembl chr11:45,076,062...45,362,887
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G |
POU4F1 |
POU class 4 homeobox 1 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
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NCBI chr11:50,729,746...50,732,626
Ensembl chr11:50,730,428...50,732,539
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G |
RB1 |
RB transcriptional corepressor 1 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr11:19,186,754...19,317,642
Ensembl chr11:19,186,761...19,317,690
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G |
RBM26 |
RNA binding motif protein 26 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
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NCBI chr11:51,337,388...51,421,746
Ensembl chr11:51,339,629...51,420,512
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G |
RCBTB1 |
RCC1 and BTB domain containing protein 1 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
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NCBI chr11:18,132,013...18,197,759
Ensembl chr11:18,114,767...18,197,747
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G |
RCBTB2 |
RCC1 and BTB domain containing protein 2 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
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NCBI chr11:19,081,841...19,182,488
Ensembl chr11:19,106,531...19,182,484
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G |
RNASEH2B |
ribonuclease H2 subunit B |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr11:16,825,799...16,911,959
Ensembl chr11:16,825,128...16,911,969
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G |
SCEL |
sciellin |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr11:49,651,589...49,777,777
Ensembl chr11:49,651,673...49,775,429
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G |
SERPINE3 |
serpin family E member 3 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr11:16,465,521...16,500,580
Ensembl chr11:16,466,475...16,500,541
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G |
SETDB2 |
SET domain bifurcated histone lysine methyltransferase 2 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr11:18,252,525...18,298,234
Ensembl chr11:18,252,524...18,297,826
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G |
SLAIN1 |
SLAIN motif family member 1 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr11:49,807,976...49,886,829
Ensembl chr11:49,807,994...49,886,822
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G |
SLITRK1 |
SLIT and NTRK like family member 1 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr11:54,950,669...54,955,768
Ensembl chr11:54,950,676...54,955,949
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G |
SLITRK6 |
SLIT and NTRK like family member 6 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr11:56,508,713...56,522,270
Ensembl chr11:56,508,767...56,522,197
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G |
SPRY2 |
sprouty RTK signaling antagonist 2 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr11:52,153,695...52,158,766
Ensembl chr11:52,153,704...52,159,156
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G |
SPRYD7 |
SPRY domain containing 7 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr11:17,849,011...17,870,090
Ensembl chr11:17,848,852...17,872,257
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G |
SUCLA2 |
succinate-CoA ligase ADP-forming subunit beta |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr11:19,616,415...19,670,667
Ensembl chr11:19,616,495...19,670,662
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G |
SUGT1 |
SGT1 homolog, MIS12 kinetochore complex assembly cochaperone |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr11:25,905,442...25,960,665
Ensembl chr11:25,906,010...25,954,210
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G |
TBC1D4 |
TBC1 domain family member 4 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr11:47,543,808...47,760,928
Ensembl chr11:47,543,815...47,828,208
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G |
TDRD3 |
tudor domain containing 3 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
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NCBI chr11:33,257,556...33,440,131
Ensembl chr11:33,258,063...33,440,123
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G |
THSD1 |
thrombospondin type 1 domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
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NCBI chr11:15,668,435...15,698,031
Ensembl chr11:15,668,813...15,697,872
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G |
TRIM13 |
tripartite motif containing 13 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr11:17,785,031...17,850,005
Ensembl chr11:17,793,784...17,849,732
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G |
UCHL3 |
ubiquitin C-terminal hydrolase L3 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
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NCBI chr11:47,829,037...47,885,800
Ensembl chr11:47,828,421...47,887,629
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G |
VPS36 |
vacuolar protein sorting 36 homolog |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr11:15,701,370...15,735,469
Ensembl chr11:15,701,373...15,735,474
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G |
WDFY2 |
WD repeat and FYVE domain containing 2 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
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NCBI chr11:16,086,872...16,272,513
Ensembl chr11:16,092,698...16,195,134
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G |
SUFU |
SUFU negative regulator of hedgehog signaling |
|
ISO |
ClinVar Annotator: match by term: Congenital fibrosarcoma |
ClinVar |
|
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NCBI chr14:113,500,001...113,628,064
Ensembl chr14:113,500,842...113,626,003
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G |
TP53 |
tumor protein p53 |
|
ISO |
ClinVar Annotator: match by term: Infantile fibrosarcoma |
ClinVar |
PMID:1631137 PMID:1978757 PMID:8062826 PMID:8099841 PMID:8425176 PMID:8527048 PMID:9150393 PMID:9242456 PMID:9598730 PMID:9825943 PMID:10089074 PMID:11051239 PMID:11782540 PMID:12826609 PMID:14743206 PMID:16818505 PMID:17417627 PMID:17427234 PMID:17606709 PMID:17881637 PMID:19378321 PMID:20013323 PMID:20128691 PMID:20182602 PMID:20407015 PMID:20522432 PMID:21059199 PMID:21343334 PMID:21519010 PMID:21601526 PMID:22186996 PMID:22265402 PMID:22713868 PMID:22915647 PMID:22955915 PMID:23172776 PMID:23246812 PMID:23667202 PMID:23950206 PMID:24033266 PMID:24038938 PMID:24573247 PMID:24603336 PMID:24651015 PMID:25157968 PMID:25741868 PMID:25925845 PMID:25952993 PMID:26230955 PMID:26467025 PMID:26585234 PMID:26619011 PMID:26787237 PMID:27276561 PMID:27374712 PMID:27463065 PMID:27680515 PMID:27895058 PMID:27959731 PMID:28369373 PMID:28472496 PMID:28492532 PMID:28724667 PMID:29025599 PMID:29324801 PMID:29979965 PMID:30224644 PMID:30327374 PMID:31127191 PMID:31775759 PMID:32187361 PMID:33300245 PMID:36988593 More...
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NCBI chr12:52,939,643...52,953,786
Ensembl chr12:52,939,644...52,953,818
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G |
COL1A1 |
collagen type I alpha 1 chain |
|
ISO |
DNA:gene fusion:exon associated with Severe combined immunodeficiency due to adenosine deaminase deficiency;DNA:gene fusion |
RGD |
PMID:12641779 PMID:22153773 |
RGD:2292195 RGD:5688300 |
NCBI chr12:26,379,087...26,397,180
Ensembl chr12:26,379,090...26,397,004
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G |
PDGFB |
platelet derived growth factor subunit B |
|
ISO |
ClinVar Annotator: match by term: Dermatofibrosarcoma protuberans |
ClinVar |
PMID:25741868 PMID:28492532 |
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Ensembl chr 5:8,986,462...9,007,435
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G |
ACTR1A |
actin related protein 1A |
|
ISO |
ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma |
ClinVar |
PMID:12068298 |
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NCBI chr14:113,480,196...113,498,794
Ensembl chr14:113,480,196...113,498,740
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G |
ARID2 |
AT-rich interaction domain 2 |
|
ISO |
ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma |
ClinVar |
PMID:26580448 |
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NCBI chr 5:76,637,385...76,800,155
Ensembl chr 5:76,636,967...76,797,043
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G |
ARL3 |
ADP ribosylation factor like GTPase 3 |
|
ISO |
ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma |
ClinVar |
PMID:12068298 |
|
NCBI chr14:113,668,375...113,699,583
Ensembl chr14:113,665,270...113,707,591
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G |
AS3MT |
arsenite methyltransferase |
|
ISO |
ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma |
ClinVar |
PMID:12068298 |
|
NCBI chr14:113,844,107...113,867,880
Ensembl chr14:113,847,859...113,869,507
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G |
ATP5MK |
ATP synthase membrane subunit k |
|
ISO |
ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma |
ClinVar |
PMID:12068298 |
|
NCBI chr14:114,321,616...114,327,517
Ensembl chr14:114,321,622...114,327,485
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G |
BORCS7 |
BLOC-1 related complex subunit 7 |
|
ISO |
ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma |
ClinVar |
PMID:12068298 |
|
NCBI chr14:113,809,368...113,848,555
Ensembl chr14:113,831,363...113,844,301
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G |
CALHM3 |
calcium homeostasis modulator 3 |
|
ISO |
ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma |
ClinVar |
PMID:12068298 |
|
NCBI chr14:114,406,491...114,413,348
Ensembl chr14:114,406,589...114,413,170
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G |
CFAP43 |
cilia and flagella associated protein 43 |
|
ISO |
ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma |
ClinVar |
PMID:12068298 |
|
NCBI chr14:115,073,529...115,201,965
Ensembl chr14:115,073,366...115,174,043
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G |
CFAP58 |
cilia and flagella associated protein 58 |
|
ISO |
ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma |
ClinVar |
PMID:12068298 |
|
NCBI chr14:115,292,386...115,410,852
Ensembl chr14:115,285,979...115,410,481
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G |
CNNM2 |
cyclin and CBS domain divalent metal cation transport mediator 2 |
|
ISO |
ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma |
ClinVar |
PMID:12068298 |
|
NCBI chr14:113,888,970...114,060,369
Ensembl chr14:113,889,950...114,053,352
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G |
COL17A1 |
collagen type XVII alpha 1 chain |
|
ISO |
ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma |
ClinVar |
PMID:12068298 |
|
NCBI chr14:114,959,404...115,007,734
Ensembl chr14:114,959,411...115,064,783
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G |
CTCF |
CCCTC-binding factor |
|
ISO |
ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma |
ClinVar |
|
|
NCBI chr 6:28,188,002...28,261,009
Ensembl chr 6:28,195,647...28,261,009
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|
G |
CYP17A1 |
cytochrome P450 family 17 subfamily A member 1 |
|
ISO |
ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma |
ClinVar |
PMID:12068298 |
|
NCBI chr14:113,805,616...113,820,445
Ensembl chr14:113,805,611...113,812,041
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|
G |
GSTO1 |
glutathione S-transferase omega 1 |
|
ISO |
ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma |
ClinVar |
PMID:12068298 |
|
NCBI chr14:115,206,434...115,216,624
Ensembl chr14:115,206,188...115,216,613
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|
G |
GSTO2 |
glutathione S-transferase omega 2 |
|
ISO |
ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma |
ClinVar |
PMID:12068298 |
|
NCBI chr14:115,218,179...115,242,377
Ensembl chr14:115,217,879...115,251,435
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|
G |
INA |
internexin neuronal intermediate filament protein alpha |
|
ISO |
ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma |
ClinVar |
PMID:12068298 |
|
NCBI chr14:114,227,998...114,240,566
Ensembl chr14:114,227,993...114,240,558
|
|
G |
ITPRIP |
inositol 1,4,5-trisphosphate receptor interacting protein |
|
ISO |
ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma |
ClinVar |
PMID:12068298 |
|
NCBI chr14:115,243,035...115,278,137
Ensembl chr14:115,252,791...115,277,654
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|
G |
LOC100157433 |
calcium homeostasis modulator protein 2 |
|
ISO |
ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma |
ClinVar |
PMID:12068298 |
|
NCBI chr14:114,380,467...114,393,845
Ensembl chr14:114,380,479...114,385,694 Ensembl chr14:114,380,479...114,385,694
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|
G |
MFSD13A |
major facilitator superfamily domain containing 13A |
|
ISO |
ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma |
ClinVar |
PMID:12068298 |
|
NCBI chr14:113,454,507...113,478,699
Ensembl chr14:113,464,174...113,478,697
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|
G |
MIR1307 |
microRNA mir-1307 |
|
ISO |
ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma |
ClinVar |
PMID:12068298 |
|
NCBI chr14:114,325,624...114,325,703
Ensembl chr14:114,325,625...114,325,704
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|
G |
NEURL1 |
neuralized E3 ubiquitin protein ligase 1 |
|
ISO |
ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma |
ClinVar |
PMID:12068298 |
|
NCBI chr14:114,436,887...114,515,713
Ensembl chr14:114,437,045...114,516,721
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|
G |
NT5C2 |
5'-nucleotidase, cytosolic II |
|
ISO |
ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma |
ClinVar |
PMID:12068298 |
|
NCBI chr14:114,062,451...114,167,460
Ensembl chr14:114,062,459...114,145,109
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|
G |
PCGF6 |
polycomb group ring finger 6 |
|
ISO |
ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma |
ClinVar |
PMID:12068298 |
|
NCBI chr14:114,062,457...114,287,458
Ensembl chr14:114,249,820...114,287,434
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|
G |
PDCD11 |
programmed cell death 11 |
|
ISO |
ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma |
ClinVar |
PMID:12068298 |
|
NCBI chr14:114,327,583...114,382,002
Ensembl chr14:114,327,625...114,379,179
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|
G |
SFR1 |
SWI5 dependent homologous recombination repair protein 1 |
|
ISO |
ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma |
ClinVar |
PMID:12068298 |
|
NCBI chr14:115,064,955...115,073,856
Ensembl chr14:115,065,057...115,073,855
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|
G |
SFXN2 |
sideroflexin 2 |
|
ISO |
ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma |
ClinVar |
PMID:12068298 |
|
NCBI chr14:113,707,659...113,733,832
Ensembl chr14:113,707,824...113,733,821
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|
G |
SH3PXD2A |
SH3 and PX domains 2A |
|
ISO |
ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma |
ClinVar |
PMID:12068298 |
|
NCBI chr14:114,515,459...114,777,251
Ensembl chr14:114,519,928...114,777,238
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|
G |
SLK |
STE20 like kinase |
|
ISO |
ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma |
ClinVar |
PMID:12068298 |
|
NCBI chr14:114,898,963...114,957,494
Ensembl chr14:114,899,147...114,955,070
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|
G |
SORCS3 |
sortilin related VPS10 domain containing receptor 3 |
|
ISO |
ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma |
ClinVar |
PMID:12068298 |
|
NCBI chr14:115,587,176...116,202,433
Ensembl chr14:115,587,821...116,198,106
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G |
STN1 |
STN1 subunit of CST complex |
|
ISO |
ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma |
ClinVar |
PMID:12068298 |
|
NCBI chr14:114,808,217...114,851,130
Ensembl chr14:114,810,201...114,851,025
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|
G |
SUFU |
SUFU negative regulator of hedgehog signaling |
|
ISO |
ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma |
ClinVar |
PMID:12068298 |
|
NCBI chr14:113,500,001...113,628,064
Ensembl chr14:113,500,842...113,626,003
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|
G |
TAF5 |
TATA-box binding protein associated factor 5 |
|
ISO |
ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma |
ClinVar |
PMID:12068298 |
|
NCBI chr14:114,304,563...114,321,624
Ensembl chr14:114,304,557...114,321,626
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|
G |
TRIM8 |
tripartite motif containing 8 |
|
ISO |
ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma |
ClinVar |
PMID:12068298 |
|
NCBI chr14:113,637,437...113,652,577
Ensembl chr14:113,636,832...113,652,372
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|
G |
WBP1L |
WW domain binding protein 1 like |
|
ISO |
ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma |
ClinVar |
PMID:12068298 |
|
NCBI chr14:113,737,758...113,800,564
Ensembl chr14:113,737,763...113,800,555
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|
|
G |
BRIP1 |
BRCA1 interacting helicase 1 |
|
ISO |
ClinVar Annotator: match by term: Diffuse intrinsic pontine glioma |
ClinVar |
PMID:16116424 PMID:16116426 PMID:16973432 PMID:18510924 PMID:19099189 PMID:19150983 PMID:19379763 PMID:19442249 PMID:19519404 PMID:20639400 PMID:20980836 PMID:21345144 PMID:22024395 PMID:22287629 PMID:22582397 PMID:23161009 PMID:23276657 PMID:23644138 PMID:23935105 PMID:24448499 PMID:24487782 PMID:24573678 PMID:24728327 PMID:24895130 PMID:25374583 PMID:25583461 PMID:25741868 PMID:26315354 PMID:26596371 PMID:26689913 PMID:26790966 PMID:26921362 PMID:27107905 PMID:28492532 PMID:28911102 PMID:29922827 PMID:30322717 PMID:31265121 PMID:31341520 PMID:31822495 PMID:32427313 PMID:32542039 PMID:33028645 PMID:33471991 PMID:33619228 PMID:34585738 More...
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NCBI chr12:36,498,138...36,639,847
Ensembl chr12:36,498,138...36,639,847
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|
G |
NF1 |
neurofibromin 1 |
|
ISO |
ClinVar Annotator: match by term: Diffuse intrinsic pontine glioma |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr12:43,487,098...43,754,205
Ensembl chr12:43,489,813...43,753,969
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|
G |
ALK |
ALK receptor tyrosine kinase |
|
ISO |
ClinVar Annotator: match by term: Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr 3:109,411,146...110,105,755
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G |
BRCA2 |
BRCA2 DNA repair associated |
|
ISO |
ClinVar Annotator: match by term: Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype |
ClinVar |
PMID:25741868 PMID:26467025 PMID:28492532 |
|
NCBI chr11:8,805,950...8,858,128
Ensembl chr11:8,805,913...8,857,793
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|
G |
CDK4 |
cyclin dependent kinase 4 |
|
ISO |
ClinVar Annotator: match by term: Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr 5:23,039,206...23,041,959
Ensembl chr 5:23,038,891...23,042,061
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|
G |
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 6:253,207...300,159
Ensembl chr 6:253,207...300,152
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G |
FGFR3 |
fibroblast growth factor receptor 3 |
|
ISO |
ClinVar Annotator: match by term: Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr 8:879,151...894,968
Ensembl chr 8:879,159...894,964
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G |
IDH1 |
isocitrate dehydrogenase (NADP(+)) 1 |
|
ISO |
ClinVar Annotator: match by term: Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype |
ClinVar |
PMID:25741868 |
|
NCBI chr15:111,341,153...111,362,330
Ensembl chr15:111,341,153...111,362,296
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|
G |
KDM5B |
lysine demethylase 5B |
|
ISO |
ClinVar Annotator: match by term: Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype |
ClinVar |
PMID:25741868 |
|
NCBI chr10:24,739,115...24,831,537
Ensembl chr10:24,736,838...24,831,447
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|
G |
NF1 |
neurofibromin 1 |
|
ISO |
ClinVar Annotator: match by term: Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype |
ClinVar |
PMID:25741868 PMID:26740943 PMID:28492532 PMID:31882575 |
|
NCBI chr12:43,487,098...43,754,205
Ensembl chr12:43,489,813...43,753,969
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G |
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 3:22,586,881...22,612,837
Ensembl chr 3:22,586,856...22,612,834
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G |
PMS2 |
PMS1 homolog 2, mismatch repair system component |
|
ISO |
ClinVar Annotator: match by term: Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype |
ClinVar |
PMID:23435383 PMID:25741868 PMID:28492532 PMID:35451539 |
|
NCBI chr 3:5,118,002...5,145,634
Ensembl chr 3:5,118,018...5,145,628
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G |
RET |
ret proto-oncogene |
|
ISO |
ClinVar Annotator: match by term: Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype |
ClinVar |
PMID:22648184 PMID:25741868 PMID:28492532 PMID:28946813 PMID:31159747 PMID:32091409 PMID:33981013 More...
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|
NCBI chr14:61,305,818...61,361,416
Ensembl chr14:61,305,841...61,361,412
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|
G |
SDHA |
succinate dehydrogenase complex flavoprotein subunit A |
|
ISO |
ClinVar Annotator: match by term: Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr16:79,838,442...79,862,956
Ensembl chr16:79,834,044...79,862,524
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G |
TP53 |
tumor protein p53 |
|
ISO |
ClinVar Annotator: match by term: Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype |
ClinVar |
PMID:1349175 PMID:1565143 PMID:1565144 PMID:1631137 PMID:8401536 PMID:8402598 PMID:8425176 PMID:8718514 PMID:8829627 PMID:11370630 PMID:11782540 PMID:12826609 PMID:15958617 PMID:16206219 PMID:16818505 PMID:17015838 PMID:17606709 PMID:19012332 PMID:19468865 PMID:20407015 PMID:21059199 PMID:21305319 PMID:21343334 PMID:21519010 PMID:21761402 PMID:22186996 PMID:22672556 PMID:22915647 PMID:23161690 PMID:23246812 PMID:24573247 PMID:24857548 PMID:25186627 PMID:25584008 PMID:25619955 PMID:25741868 PMID:25952993 PMID:26014290 PMID:26230955 PMID:26585234 PMID: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:33300245 PMID:33407742 More...
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NCBI chr12:52,939,643...52,953,786
Ensembl chr12:52,939,644...52,953,818
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G |
TSPAN31 |
tetraspanin 31 |
|
ISO |
ClinVar Annotator: match by term: Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr 5:23,029,325...23,038,987
Ensembl chr 5:23,029,306...23,038,977
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G |
BRAF |
B-Raf proto-oncogene, serine/threonine kinase |
|
ISO |
DNA:mutation:cds:p.V600E(human) |
RGD |
PMID:25346165 |
RGD:11567238 |
NCBI chr18:8,957,963...9,132,558
Ensembl chr18:8,957,991...9,132,553
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G |
BCL7C |
BAF chromatin remodeling complex subunit BCL7C |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26075792 |
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NCBI chr 3:17,547,546...17,589,431
Ensembl chr 3:17,547,582...17,551,853
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G |
EPHB2 |
EPH receptor B2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26075792 |
|
NCBI chr 6:80,649,098...80,849,979
Ensembl chr 6:80,650,740...80,843,567
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G |
GDNF |
glial cell derived neurotrophic factor |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19138852 |
|
NCBI chr16:22,936,602...22,965,929
Ensembl chr16:22,936,604...22,966,536
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G |
IGF2 |
insulin like growth factor 2 |
|
ISO |
mRNA:increased expression:cerebellum |
RGD |
PMID:18478565 |
RGD:5509961 |
NCBI chr 2:1,469,183...1,496,417
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G |
RAB3A |
RAB3A, member RAS oncogene family |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26075792 |
|
NCBI chr 2:59,603,090...59,609,773
Ensembl chr 2:59,603,117...59,609,767
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G |
RTBDN |
retbindin |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26075792 |
|
NCBI chr 2:66,188,077...66,191,434
Ensembl chr 2:66,188,089...66,193,654
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G |
SHC3 |
SHC adaptor protein 3 |
|
ISO |
DNA:amplification:brain: |
RGD |
PMID:19748727 |
RGD:13782069 |
NCBI chr14:672,439...836,090
Ensembl chr14:679,431...834,382
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G |
ZNF668 |
zinc finger protein 668 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26075792 |
|
NCBI chr 3:17,406,263...17,417,115
Ensembl chr 3:17,406,273...17,416,795
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G |
SMARCB1 |
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 |
|
ISO |
protein:decreased expression:epithelial cell: |
RGD |
PMID:19033866 |
RGD:155804293 |
NCBI chr14:49,874,981...49,906,043
Ensembl chr14:49,874,984...49,906,048
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G |
BAP1 |
BRCA1 associated deubiquitinase 1 |
|
ISO |
ClinVar Annotator: match by term: Ewing sarcoma |
ClinVar |
PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 |
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NCBI chr13:34,544,570...34,553,538
Ensembl chr13:34,544,581...34,553,483
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G |
CD99 |
CD99 molecule (Xg blood group) |
|
ISO |
ClinVar Annotator: match by term: CD99 Positive Neoplastic Cells Present |
ClinVar |
PMID:25741868 |
|
NCBI chr Y:5,946,851...5,983,610
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G |
CDK4 |
cyclin dependent kinase 4 |
|
ISO |
ClinVar Annotator: match by term: Ewing sarcoma |
ClinVar |
PMID:24755471 PMID:25318351 PMID:25741868 PMID:26252490 PMID:26467025 PMID:26580448 PMID:28166811 PMID:28492532 PMID:30093976 PMID:30851086 More...
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NCBI chr 5:23,039,206...23,041,959
Ensembl chr 5:23,038,891...23,042,061
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G |
CIZ1 |
CDKN1A interacting zinc finger protein 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17508423 |
|
NCBI chr 1:268,618,972...268,642,064
Ensembl chr 1:268,617,087...268,641,893
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G |
EGR2 |
early growth response 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26214589 |
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NCBI chr14:66,280,665...66,291,308
Ensembl chr14:66,284,581...66,291,299
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G |
EWSR1 |
EWS RNA binding protein 1 |
|
ISO |
ClinVar Annotator: match by term: Ewing sarcoma |
OMIM ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr14:46,408,636...46,439,357
Ensembl chr14:46,408,649...46,439,453
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G |
FLI1 |
Fli-1 proto-oncogene, ETS transcription factor |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11772151 PMID:16646077 PMID:26214589 |
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NCBI chr 9:55,612,905...55,749,784
Ensembl chr 9:55,612,901...55,749,778
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G |
KDM3A |
lysine demethylase 3A |
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ISO |
mRNA:increased expression:bone marrow (human) |
RGD |
PMID:24362521 |
RGD:9590218 |
NCBI chr 3:58,300,109...58,355,000
Ensembl chr 3:58,302,949...58,354,945
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NF1 |
neurofibromin 1 |
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ISO |
ClinVar Annotator: match by term: Ewing sarcoma | ClinVar Annotator: match by term: Ewing tumor |
ClinVar |
PMID:7607663 PMID:9385374 PMID:9463322 PMID:10607834 PMID:10712197 PMID:12112660 PMID:12807981 PMID:15060124 PMID:16479075 PMID:16870183 PMID:17311297 PMID:20301288 PMID:22925204 PMID:23668869 PMID:23913538 PMID:25741868 PMID:26467025 PMID:26962827 PMID:27322474 PMID:27838393 PMID:28492532 PMID:30290804 PMID:30530636 PMID:31347283 PMID:31730495 PMID:36988593 More...
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NCBI chr12:43,487,098...43,754,205
Ensembl chr12:43,489,813...43,753,969
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G |
TSPAN31 |
tetraspanin 31 |
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ISO |
ClinVar Annotator: match by term: Ewing sarcoma |
ClinVar |
PMID:24755471 PMID:25318351 PMID:25741868 PMID:26252490 PMID:26467025 PMID:26580448 PMID:28166811 PMID:28492532 PMID:30093976 PMID:30851086 More...
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NCBI chr 5:23,029,325...23,038,987
Ensembl chr 5:23,029,306...23,038,977
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G |
RET |
ret proto-oncogene |
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ISO |
ClinVar Annotator: match by term: Ewing sarcoma of soft tissue |
ClinVar |
PMID:24336963 PMID:24429398 PMID:24755471 PMID:25256751 PMID:25741868 PMID:26467025 PMID:26580448 PMID:28492532 PMID:29263839 PMID:29642553 PMID:30583724 PMID:30680046 PMID:31428572 PMID:31658439 PMID:32099073 PMID:32179705 More...
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NCBI chr14:61,305,818...61,361,416
Ensembl chr14:61,305,841...61,361,412
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G |
NR4A3 |
nuclear receptor subfamily 4 group A member 3 |
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ISO |
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OMIM |
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NCBI chr 1:241,569,867...241,611,735
Ensembl chr 1:241,570,010...241,611,727
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G |
TAF15 |
TATA-box binding protein associated factor 15 |
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ISO |
ClinVar Annotator: match by term: Extraskeletal myxoid chondrosarcoma | ClinVar Annotator: match by term: TAF15-related condition |
OMIM ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr12:39,687,171...39,716,761
Ensembl chr12:39,686,884...39,724,769
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G |
CDC73 |
cell division cycle 73 |
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ISO |
ClinVar Annotator: match by term: Cystic parathyroid adenoma |
ClinVar |
PMID:12434154 |
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NCBI chr10:575,075...667,618
Ensembl chr10:575,075...667,432
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G |
GLMN |
glomulin, FKBP associated protein |
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ISO |
ClinVar Annotator: match by term: Familial glomangioma |
ClinVar |
PMID:11175297 PMID:11845407 PMID:15689436 PMID:23801931 PMID:24033266 PMID:25741868 PMID:28492532 PMID:30460983 PMID:31483481 More...
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NCBI chr 4:124,773,957...124,813,336
Ensembl chr 4:124,773,980...124,813,335
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G |
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...
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NCBI chr11:19,186,754...19,317,642
Ensembl chr11:19,186,761...19,317,690
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G |
KRAS |
KRAS proto-oncogene, GTPase |
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ISO |
mRNA:decreased expression:brain |
RGD |
PMID:19179066 |
RGD:13702872 |
NCBI chr 5:48,508,774...48,546,260
Ensembl chr 5:48,508,811...48,549,358
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G |
CDC42 |
cell division cycle 42 |
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ISO |
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RGD |
PMID:17971488 |
RGD:5688275 |
NCBI chr 6:80,035,034...80,089,243
Ensembl chr 6:80,035,123...80,089,233
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G |
DDR2 |
discoidin domain receptor tyrosine kinase 2 |
ameliorates |
ISO |
DNA:deletion:exons: |
RGD |
PMID:24293323 |
RGD:150429711 |
NCBI chr 4:87,749,738...87,911,818
Ensembl chr 4:87,756,168...87,911,296
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G |
EGR1 |
early growth response 1 |
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ISO |
human tumor line expressing mouse gene in mouse model |
RGD |
PMID:7585551 |
RGD:5131944 |
NCBI chr 2:140,440,829...140,445,302
Ensembl chr 2:140,441,421...140,445,296
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G |
ERCC6 |
ERCC excision repair 6, chromatin remodeling factor |
susceptibility |
ISO |
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RGD |
PMID:11238917 |
RGD:11567233 |
NCBI chr14:89,998,125...90,075,911
Ensembl chr14:90,002,024...90,075,898
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G |
NF1 |
neurofibromin 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20601955 |
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NCBI chr12:43,487,098...43,754,205
Ensembl chr12:43,489,813...43,753,969
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G |
SERPINE1 |
serpin family E member 1 |
severity |
ISO |
|
RGD |
PMID:11059781 |
RGD:8547752 |
NCBI chr 3:8,863,738...8,871,572
Ensembl chr 3:8,863,695...8,871,547
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G |
TERT |
telomerase reverse transcriptase |
treatment |
ISO |
|
RGD |
PMID:19903903 |
RGD:11038656 |
NCBI chr16:79,258,591...79,276,421
Ensembl chr16:79,258,591...79,276,421
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G |
TNFRSF1A |
TNF receptor superfamily member 1A |
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ISO |
human gene in mouse model |
RGD |
PMID:10753499 |
RGD:5131435 |
NCBI chr 5:64,319,349...64,331,876
Ensembl chr 5:64,319,051...64,331,909
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G |
ACTR3 |
actin related protein 3 |
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ISO |
mRNA:increased expression:brain (human) |
RGD |
PMID:25682201 |
RGD:11570557 |
NCBI chr15:20,104,808...20,171,721
Ensembl chr15:20,104,812...20,167,421
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G |
ADGRB1 |
adhesion G protein-coupled receptor B1 |
treatment |
ISO |
mRNA:decreased expression:brain: |
RGD |
PMID:12507886 PMID:16244591 |
RGD:13831352 RGD:13831355 |
NCBI chr 4:1,582,321...1,658,639
Ensembl chr 4:1,582,330...1,658,942
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G |
ADGRL4 |
adhesion G protein-coupled receptor L4 |
treatment severity |
ISO |
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RGD |
PMID:23096411 PMID:27416955 |
RGD:13838664 RGD:13838665 |
NCBI chr 6:134,362,714...134,462,697
Ensembl chr 6:134,362,901...134,462,694
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G |
AKT1 |
AKT serine/threonine kinase 1 |
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ISO |
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RGD |
PMID:10802656 |
RGD:734543 |
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G |
AKT3 |
AKT serine/threonine kinase 3 |
disease_progression |
ISO |
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RGD |
PMID:27422127 |
RGD:13674164 |
NCBI chr10:16,441,465...16,741,745
Ensembl chr10:16,441,447...16,741,337
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G |
APC |
APC regulator of WNT signaling pathway |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:7661930 |
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NCBI chr 2:116,913,354...116,985,303
Ensembl chr 2:116,812,582...117,034,887
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G |
ARRB2 |
arrestin beta 2 |
ameliorates |
ISO |
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RGD |
PMID:34007068 |
RGD:401938608 |
NCBI chr12:52,161,776...52,170,362
Ensembl chr12:52,161,778...52,170,342
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G |
ASPM |
assembly factor for spindle microtubules |
|
ISO |
mRNA:increased expression:brain: |
RGD |
PMID:18636190 |
RGD:13439742 |
NCBI chr10:19,971,516...20,039,680
Ensembl chr10:19,975,192...20,039,623
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G |
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...
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NCBI chr 9:36,620,656...36,759,555
Ensembl chr 9:36,620,657...36,759,552
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G |
ATRX |
ATRX chromatin remodeler |
disease_progression |
ISO |
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RGD |
PMID:27478330 |
RGD:13442489 |
NCBI chr X:61,584,028...61,872,341
Ensembl chr X:61,584,848...61,872,287
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G |
BAG3 |
BAG cochaperone 3 |
treatment |
ISO |
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RGD |
PMID:21561597 |
RGD:5687132 |
NCBI chr14:129,510,240...129,533,998
Ensembl chr14:129,466,905...129,533,993
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G |
BCHE |
butyrylcholinesterase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:2317787 |
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NCBI chr13:104,946,732...105,007,568
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G |
BECN1 |
beclin 1 |
disease_progression |
ISO |
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RGD |
PMID:20863706 |
RGD:6483102 |
NCBI chr12:20,041,914...20,054,249
Ensembl chr12:20,041,956...20,054,373
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G |
BHLHE40 |
basic helix-loop-helix family member e40 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23582323 |
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NCBI chr13:61,526,121...61,533,686
Ensembl chr13:61,526,116...61,533,674
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G |
BIRC3 |
baculoviral IAP repeat containing 3 |
exacerbates |
ISO |
mRNA:increased expression:brain (human) |
RGD |
PMID:31964418 |
RGD:153344516 |
NCBI chr 9:33,003,570...33,020,252
Ensembl chr 9:33,002,734...33,020,242
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G |
BMI1 |
BMI1 proto-oncogene, polycomb ring finger |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19823589 |
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NCBI chr10:52,586,089...52,596,154
Ensembl chr10:52,586,509...52,596,564
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G |
BRD2 |
bromodomain containing 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27388964 |
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NCBI chr 7:25,096,579...25,162,591
Ensembl chr 7:25,150,564...25,162,584
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G |
BRD4 |
bromodomain containing 4 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26455392 PMID:27388964 |
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NCBI chr 2:62,250,958...62,345,851
Ensembl chr 2:62,250,989...62,345,362
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G |
BRD7 |
bromodomain containing 7 |
|
ISO |
protein:increased expression:brain: |
RGD |
PMID:24404152 |
RGD:9586441 |
NCBI chr 6:34,478,008...34,519,622
Ensembl chr 6:34,478,012...34,519,663
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G |
C9H11orf65 |
chromosome 9 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...
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NCBI chr 9:36,768,819...36,855,318
Ensembl chr 9:36,776,897...36,849,710
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G |
CBX6 |
chromobox 6 |
disease_progression |
ISO |
mRNA,protein:decreased expression:astrocyte: |
RGD |
PMID:24260522 |
RGD:9587354 |
NCBI chr 5:9,180,559...9,191,414
Ensembl chr 5:9,180,684...9,188,620
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G |
CBX7 |
chromobox 7 |
disease_progression |
ISO |
mRNA,protein:decreased expression:astrocyte: |
RGD |
PMID:24260522 |
RGD:9587354 |
NCBI chr 5:9,070,312...9,090,467
Ensembl chr 5:9,070,353...9,087,634
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G |
CBX8 |
chromobox 8 |
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ISO |
mRNA:increased expression:astrocyte: |
RGD |
PMID:24260522 |
RGD:9587354 |
NCBI chr12:2,562,419...2,565,035
Ensembl chr12:2,562,374...2,565,780
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G |
CCNH |
cyclin H |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30705370 |
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NCBI chr 2:94,980,938...95,019,053
Ensembl chr 2:94,980,941...95,018,634
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G |
CD9 |
CD9 molecule |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26573230 |
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NCBI chr 5:64,420,177...64,459,783
Ensembl chr 5:64,420,182...64,460,304
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G |
CDK4 |
cyclin dependent kinase 4 |
|
ISO |
DNA:amplication |
RGD |
PMID:23796897 |
RGD:13702089 |
NCBI chr 5:23,039,206...23,041,959
Ensembl chr 5:23,038,891...23,042,061
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G |
CDK6 |
cyclin dependent kinase 6 |
severity |
ISO |
CTD Direct Evidence: marker/mechanism |
RGD CTD |
PMID:10884881 PMID:20534551 |
RGD:13702095 |
NCBI chr 9:72,510,858...72,765,631
Ensembl chr 9:72,518,101...72,764,129
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G |
CDKN2A |
cyclin dependent kinase inhibitor 2A |
treatment |
ISO |
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RGD |
PMID:10720483 |
RGD:8552659 |
NCBI chr 1:200,774,496...200,799,149
Ensembl chr 1:200,792,469...200,798,854
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G |
CHAF1B |
chromatin assembly factor 1 subunit B |
|
ISO |
protein:increased expression:brain: |
RGD |
PMID:24039914 |
RGD:9587472 |
NCBI chr13:200,048,096...200,074,902
Ensembl chr13:200,048,149...200,072,556
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G |
CHI3L1 |
chitinase 3 like 1 |
|
ISO |
mRNA:increased expression:brain, tumor (human) CTD Direct Evidence: marker/mechanism |
RGD CTD |
PMID:11161003 PMID:21029458 |
RGD:4892621 |
NCBI chr 9:113,885,541...113,895,033
Ensembl chr 9:113,885,542...113,895,131
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G |
CPE |
carboxypeptidase E |
disease_progression |
ISO |
mRNA, protein:decreased expression:brain tumor (human) |
RGD |
PMID:22249620 |
RGD:405650684 |
NCBI chr 8:43,568,744...43,695,475
Ensembl chr 8:43,565,054...43,696,268
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G |
CPEB1 |
cytoplasmic polyadenylation element binding protein 1 |
disease_progression |
ISO |
|
RGD |
PMID:23360795 |
RGD:9685152 |
NCBI chr 7:52,329,054...52,382,408
Ensembl chr 7:52,304,472...52,383,732
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G |
CSTB |
cystatin B |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22287159 |
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NCBI chr13:206,706,060...206,710,598
Ensembl chr13:206,706,063...206,710,646
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G |
CTNND2 |
catenin delta 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23917401 |
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NCBI chr16:508,630...1,521,773
Ensembl chr16:508,637...1,521,749
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G |
CTSB |
cathepsin B |
|
ISO |
CTD Direct Evidence: marker/mechanism protein:increased expression:glioma cell (human) |
CTD RGD |
PMID:17898873 PMID:22287159 |
RGD:2315515 |
NCBI chr14:15,014,139...15,035,081
Ensembl chr14:15,011,711...15,033,877
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G |
CTSH |
cathepsin H |
|
ISO |
protein:increased expression:brain |
RGD |
PMID:8640738 |
RGD:1549417 |
NCBI chr 7:48,084,882...48,106,072
Ensembl chr 7:48,083,572...48,106,072
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G |
CTSK |
cathepsin K |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25356585 |
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NCBI chr 4:98,389,459...98,404,969
Ensembl chr 4:98,391,428...98,404,961
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G |
CXCL8 |
C-X-C motif chemokine ligand 8 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16356833 |
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NCBI chr 8:69,932,646...69,935,861
Ensembl chr 8:69,932,643...69,935,861
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G |
DEUP1 |
deuterosome assembly protein 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30705370 |
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NCBI chr 9:25,688,394...25,893,105
Ensembl chr 9:25,689,034...25,893,096
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G |
DMBT1 |
deleted in malignant brain tumors 1 |
|
ISO |
DNA:deletion |
RGD |
PMID:9288095 |
RGD:1599778 |
NCBI chr14:132,154,346...132,231,274
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G |
DNMT3A |
DNA methyltransferase 3 alpha |
|
ISO |
ClinVar Annotator: match by term: Glioblastoma |
ClinVar |
|
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NCBI chr 3:113,501,972...113,609,148
Ensembl chr 3:113,528,926...113,603,087
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G |
DUSP6 |
dual specificity phosphatase 6 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21499306 |
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NCBI chr 5:93,303,058...93,307,510
Ensembl chr 5:93,302,975...93,307,504
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G |
E2F1 |
E2F transcription factor 1 |
disease_progression |
ISO |
|
RGD |
PMID:16264179 |
RGD:13702471 |
NCBI chr17:37,178,587...37,190,118
Ensembl chr17:37,178,599...37,189,883
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G |
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 8:112,235,607...112,330,062
Ensembl chr 8:112,234,386...112,330,046
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G |
EGFR |
epidermal growth factor receptor |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19204207 PMID:23917401 PMID:26455392 |
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NCBI chr 9:139,302,410...139,474,632
Ensembl chr 9:139,300,022...139,475,589
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G |
ENPP1 |
ectonucleotide pyrophosphatase/phosphodiesterase 1 |
severity |
ISO |
protein:increased expression:brain (human) |
RGD |
PMID:21195542 |
RGD:13204719 |
NCBI chr 1:31,724,290...31,796,594
Ensembl chr 1:31,722,721...31,796,595
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G |
EZH2 |
enhancer of zeste 2 polycomb repressive complex 2 subunit |
treatment |
ISO |
|
RGD |
PMID:25595591 |
RGD:14928319 |
NCBI chr 9:109,384,976...109,450,943
Ensembl chr 9:109,385,015...109,450,941
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G |
FABP7 |
fatty acid binding protein 7 |
severity |
ISO |
mRNA, protein:increased expression:brain (human) |
RGD |
PMID:15827123 |
RGD:1578468 |
NCBI chr 1:39,872,198...39,876,272
Ensembl chr 1:39,871,537...39,876,397
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G |
FAM83D |
family with sequence similarity 83 member D |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:35150198 |
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NCBI chr17:41,868,982...41,892,222
Ensembl chr17:41,868,976...41,892,220
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G |
FAT1 |
FAT atypical cadherin 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23354438 |
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NCBI chr17:8,466,099...8,580,715
Ensembl chr17:8,457,187...8,580,715
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G |
FN1 |
fibronectin 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17099729 |
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NCBI chr15:117,658,158...117,737,145
Ensembl chr15:117,658,099...117,731,043
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G |
FOSL2 |
FOS like 2, AP-1 transcription factor subunit |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23582323 |
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NCBI chr 3:110,820,403...110,842,903
Ensembl chr 3:110,823,666...110,843,068
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G |
FXN |
frataxin |
|
ISO |
|
RGD |
PMID:21863062 |
RGD:401793715 |
NCBI chr 1:222,412,485...222,433,224
Ensembl chr 1:222,412,509...222,434,702
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G |
GDNF |
glial cell derived neurotrophic factor |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19138852 |
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NCBI chr16:22,936,602...22,965,929
Ensembl chr16:22,936,604...22,966,536
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G |
GRIK2 |
glutamate ionotropic receptor kainate type subunit 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30705370 |
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NCBI chr 1:68,052,086...68,680,448
Ensembl chr 1:68,057,538...68,679,256
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G |
H2AX |
H2A.X variant histone |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26651356 |
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NCBI chr 9:46,308,824...46,310,494
Ensembl chr 9:46,309,653...46,310,084
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G |
H3-3A |
H3.3 histone A |
|
ISO |
ClinVar Annotator: match by term: Glioblastoma |
ClinVar |
PMID:26822237 |
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NCBI chr10:13,939,938...13,947,976
Ensembl chr10:13,923,077...13,948,484
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G |
HEATR1 |
HEAT repeat containing 1 |
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ISO |
mRNA, protein:increased expression:brain |
RGD |
PMID:25126583 |
RGD:10761721 |
NCBI chr14:54,821,073...54,870,873
Ensembl chr14:54,821,171...54,869,857
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G |
HES1 |
hes family bHLH transcription factor 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21127729 |
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NCBI chr13:131,135,970...131,137,865
Ensembl chr13:131,135,725...131,138,237
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G |
HEY1 |
hes related family bHLH transcription factor with YRPW motif 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21127729 |
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NCBI chr 4:56,859,640...56,863,807
Ensembl chr 4:56,859,663...56,863,788
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G |
HIF1A |
hypoxia inducible factor 1 subunit alpha |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:12811834 |
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NCBI chr 1:190,625,436...190,673,926
Ensembl chr 1:190,625,244...190,674,845
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G |
HOXD10 |
homeobox D10 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:34737577 |
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NCBI chr15:81,911,372...81,921,164
Ensembl chr15:81,917,637...81,921,461
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G |
HRAS |
HRas proto-oncogene, GTPase |
severity |
ISO |
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: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:31394527 PMID:31775759 PMID:33372952 PMID:34008892 More...
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RGD:13702872 |
NCBI chr 2:299,662...302,539
Ensembl chr 2:299,660...302,501
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G |
IDH1 |
isocitrate dehydrogenase (NADP(+)) 1 |
onset disease_progression |
ISO |
DNA:mutation:cds:p.R132H(human) ClinVar Annotator: match by term: Glioblastoma, somatic DNA:mutation:cds:p.R132(human) |
RGD ClinVar |
PMID:18772396 PMID:19765000 PMID:21446021 PMID:25043048 PMID:25495392 PMID:25741868 PMID:36201590 More...
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RGD:11074562 RGD:11522732 |
NCBI chr15:111,341,153...111,362,330
Ensembl chr15:111,341,153...111,362,296
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G |
IL16 |
interleukin 16 |
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ISO |
protein:increased expression:brain |
RGD |
PMID:17221335 |
RGD:5024941 |
NCBI chr 7:49,973,937...50,102,346
Ensembl chr 7:49,973,938...50,102,346
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G |
IL2 |
interleukin 2 |
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ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:7719933 |
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NCBI chr 8:101,640,938...101,645,683
Ensembl chr 8:101,640,944...101,645,609
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G |
JAG1 |
jagged canonical Notch ligand 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21127729 |
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NCBI chr17:19,591,248...19,629,659
Ensembl chr17:19,591,259...19,629,641
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G |
JAG2 |
jagged canonical Notch ligand 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21127729 |
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G |
KCNC2 |
potassium voltage-gated channel subfamily C member 2 |
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ISO |
mRNA:splice variant (human) |
RGD |
PMID:18474104 |
RGD:9686067 |
NCBI chr 5:38,326,408...38,535,826
Ensembl chr 5:38,326,414...38,533,110
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G |
KDR |
kinase insert domain receptor |
treatment |
ISO |
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RGD |
PMID:26325365 |
RGD:11529678 |
NCBI chr 8:41,809,116...41,856,379
Ensembl chr 8:41,809,122...41,856,336
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G |
KRAS |
KRAS proto-oncogene, GTPase |
treatment |
ISO |
mRNA:decreased expression:brain |
RGD |
PMID:16166301 PMID:19179066 |
RGD:13702861 RGD:13702872 |
NCBI chr 5:48,508,774...48,546,260
Ensembl chr 5:48,508,811...48,549,358
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G |
L1CAM |
L1 cell adhesion molecule |
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ISO |
mRNA:decreased expression:brain, temporal lobe (human) |
RGD |
PMID:20419098 |
RGD:6483067 |
NCBI chr X:124,595,649...124,618,292
Ensembl chr X:124,595,651...124,618,269
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G |
LOC100737875 |
solute carrier family 22 member 10-like |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30705370 |
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NCBI chr 2:8,734,036...8,750,828
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G |
LOC110258578 |
interleukin-1 beta-like |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16356833 |
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G |
LOC396867 |
stefin A8 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22287159 |
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NCBI chr13:138,216,027...138,226,397
Ensembl chr13:138,181,723...138,236,860
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G |
LRRC59 |
leucine rich repeat containing 59 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30705370 |
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NCBI chr12:26,678,207...26,694,277
Ensembl chr12:26,677,226...26,694,279
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G |
LTBP4 |
latent transforming growth factor beta binding protein 4 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27270107 |
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NCBI chr 6:48,831,018...48,861,503
Ensembl chr 6:48,831,014...48,861,507
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G |
LZTR1 |
leucine zipper like post translational regulator 1 |
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ISO |
CTD Direct Evidence: marker/mechanism DNA:mutations:multiple (human) |
CTD RGD |
PMID:23917401 |
RGD:151708722 |
NCBI chr14:50,576,413...50,590,397
Ensembl chr14:50,576,624...50,590,397
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G |
MACIR |
macrophage immunometabolism regulator |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30705370 |
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NCBI chr 2:108,733,347...108,753,276
Ensembl chr 2:108,733,357...108,753,275
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G |
MAP1LC3A |
microtubule associated protein 1 light chain 3 alpha |
treatment |
ISO |
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RGD |
PMID:24905460 |
RGD:11561946 |
NCBI chr17:37,957,830...37,959,505
Ensembl chr17:37,957,507...37,959,505
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G |
MAP2K2 |
mitogen-activated protein kinase kinase 2 |
treatment |
ISO |
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RGD |
PMID:26189368 |
RGD:13702862 |
NCBI chr 2:74,626,739...74,651,352
Ensembl chr 2:74,626,783...74,651,348
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G |
MAP2K3 |
mitogen-activated protein kinase kinase 3 |
disease_progression |
ISO |
protein:increased expression, increased phosphorylation:brain |
RGD |
PMID:17406030 |
RGD:1641940 |
NCBI chr12:61,396,337...61,417,333
Ensembl chr12:61,396,369...61,417,321
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G |
MDM2 |
MDM2 proto-oncogene |
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ISO |
DNA:amplication |
RGD |
PMID:23796897 |
RGD:13702089 |
NCBI chr 5:33,105,717...33,137,602
Ensembl chr 5:33,105,759...33,137,739
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G |
MDM4 |
MDM4 regulator of p53 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20472715 |
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NCBI chr 9:65,175,488...65,219,747
Ensembl chr 9:65,175,377...65,219,742
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G |
MED12 |
mediator complex subunit 12 |
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ISO |
ClinVar Annotator: match by term: Glioblastoma |
ClinVar |
PMID:26822237 |
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NCBI chr X:57,150,884...57,174,367
Ensembl chr X:57,150,919...57,175,333
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G |
MET |
MET proto-oncogene, receptor tyrosine kinase |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22162573 |
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NCBI chr18:29,426,044...29,541,526
Ensembl chr18:29,426,048...29,541,512
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G |
MGMT |
O-6-methylguanine-DNA methyltransferase |
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ISO |
DNA:transition:cds:p.L84F (human) CTD Direct Evidence: marker/mechanism |
RGD CTD |
PMID:14669534 PMID:20131314 PMID:22162573 |
RGD:2317667 |
NCBI chr14:138,502,005...138,771,543
Ensembl chr14:138,499,309...138,771,540
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G |
MIR21 |
microRNA mir-21 |
ameliorates |
ISO |
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RGD |
PMID:31730913 |
RGD:41404645 |
NCBI chr12:36,065,267...36,065,358
Ensembl chr12:36,065,267...36,065,358
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G |
MIR31 |
microRNA mir-31 |
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ISO |
RNA:decreased expression:brain (human) |
RGD |
PMID:22089331 |
RGD:152998941 |
NCBI chr 1:201,198,732...201,198,809
Ensembl chr 1:201,198,732...201,198,809
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G |
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 6:30,059,247...30,087,031
Ensembl chr 6:30,058,595...30,086,982
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G |
MMP7 |
matrix metallopeptidase 7 |
severity |
ISO |
protein:increased expression:brain (human) |
RGD |
PMID:7616276 |
RGD:7207145 |
NCBI chr 9:33,214,590...33,225,080
Ensembl chr 9:33,214,594...33,225,080
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G |
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 chr17:48,179,690...48,186,782
Ensembl chr17:48,179,671...48,186,788
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G |
MSH2 |
mutS homolog 2 |
|
ISO |
ClinVar Annotator: match by term: Glioblastoma |
ClinVar |
PMID:25741868 |
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NCBI chr 3:93,082,958...93,163,556
Ensembl chr 3:93,081,219...93,163,585
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G |
MTOR |
mechanistic target of rapamycin kinase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30705370 |
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NCBI chr 6:71,286,989...71,412,913
Ensembl chr 6:71,286,989...71,412,888
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G |
MYC |
MYC proto-oncogene, bHLH transcription factor |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21127729 |
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NCBI chr 4:12,455,141...12,460,360
Ensembl chr 4:12,455,122...12,461,078
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G |
NCOR1 |
nuclear receptor corepressor 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17312396 |
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NCBI chr12:59,256,868...59,392,564
Ensembl chr12:59,273,100...59,392,562
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G |
NDRG1 |
N-myc downstream regulated 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15341671 |
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NCBI chr 4:8,014,445...8,069,335
Ensembl chr 4:8,014,446...8,069,335
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G |
NDRG4 |
NDRG family member 4 |
|
ISO |
mRNA, protein:decreased expression:brain |
RGD |
PMID:22489821 |
RGD:7247726 |
NCBI chr 6:20,222,876...20,265,581
Ensembl chr 6:20,223,667...20,265,576
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G |
NF1 |
neurofibromin 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25119042 |
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NCBI chr12:43,487,098...43,754,205
Ensembl chr12:43,489,813...43,753,969
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G |
NFKBIA |
NFKB inhibitor alpha |
treatment |
ISO |
human cell line in a mouse model |
RGD |
PMID:15692608 |
RGD:127285387 |
NCBI chr 7:64,508,119...64,510,754
Ensembl chr 7:64,507,822...64,511,277
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G |
NOTCH1 |
notch receptor 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21127729 |
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G |
NOTCH2 |
notch receptor 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21127729 |
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NCBI chr 4:100,951,522...101,152,348
Ensembl chr 4:100,981,636...101,150,195
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G |
NOTCH3 |
notch receptor 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21127729 |
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NCBI chr 2:62,364,507...62,402,348
Ensembl chr 2:62,364,501...62,402,344
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G |
NRAS |
NRAS proto-oncogene, GTPase |
|
ISO |
DNA:amplication:: DNA:mutation:cds:c.35G>A, p.G12D(human) |
RGD |
PMID:11351043 PMID:15517309 |
RGD:13702875 RGD:13702876 |
NCBI chr 4:105,845,913...105,853,769
Ensembl chr 4:105,845,872...105,858,227
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G |
PDGFB |
platelet derived growth factor subunit B |
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ISO |
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RGD |
PMID:21210235 |
RGD:6482799 |
Ensembl chr 5:8,986,462...9,007,435
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G |
PDGFRB |
platelet derived growth factor receptor beta |
treatment |
ISO |
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RGD |
PMID:24566984 |
RGD:13702903 |
NCBI chr 2:151,155,753...151,192,818
Ensembl chr 2:151,155,756...151,192,647
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G |
PDPN |
podoplanin |
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ISO |
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RGD |
PMID:16979138 |
RGD:2292241 |
NCBI chr 6:73,019,063...73,050,000
Ensembl chr 6:73,019,057...73,049,996
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G |
PECAM1 |
platelet and endothelial cell adhesion molecule 1 |
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ISO |
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RGD |
PMID:21858729 |
RGD:6771207 |
NCBI chr12:14,667,643...14,723,296
Ensembl chr12:14,649,044...14,723,293
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G |
PGF |
placental growth factor |
disease_progression |
ISO |
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RGD |
PMID:20458050 |
RGD:6483585 |
NCBI chr 7:98,149,510...98,162,784
Ensembl chr 7:98,148,994...98,162,741
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G |
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 Annotator: match by term: Glioblastoma | ClinVar Annotator: match by term: Glioblastoma, somatic |
ClinVar |
PMID:15016963 PMID:15254419 PMID:15520168 PMID:15608678 PMID:15647370 PMID:15805248 PMID:15930273 PMID:16339315 PMID:16353168 PMID:16906227 PMID:16930767 PMID:17376864 PMID:17673550 PMID:18074223 PMID:18371219 PMID:18676830 PMID:18725974 PMID:19029981 PMID:19223544 PMID:19366826 PMID:19513541 PMID:19671852 PMID:19903786 PMID:20177704 PMID:20453058 PMID:20581867 PMID:20593314 PMID:20619739 PMID:21078999 PMID:21430269 PMID:21558396 PMID:21824802 PMID:22120714 PMID:22162582 PMID:22162589 PMID:22209294 PMID:22271473 PMID:22357840 PMID:22370636 PMID:22658544 PMID:22729222 PMID:22729223 PMID:22729224 PMID:22949682 PMID:23066039 PMID:23100325 PMID:23246288 PMID:23408298 PMID:23888070 PMID:23946963 PMID:24033266 PMID:24265155 PMID:24559322 PMID:24782230 PMID:25157968 PMID:25599672 PMID:25681199 PMID:25741868 PMID:25880439 PMID:25915946 PMID:26266975 PMID:26266985 PMID:26619011 PMID:26627007 PMID:26637981 PMID:26822237 PMID:26851524 PMID:27126994 PMID:27283355 PMID:27626068 PMID:27631024 PMID:28151489 PMID:28425981 PMID:28492532 PMID:28941273 PMID:29296277 PMID:29446767 PMID:29661094 PMID:29758562 PMID:29988677 PMID:30063105 PMID:30376034 PMID:30543347 PMID:31536475 PMID:31568861 PMID:31775759 PMID:32778138 PMID:34008892 PMID:34496175 PMID:34568242 PMID:34606700 PMID:36474027 PMID:37667289 PMID:37712948 More...
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NCBI chr13:117,193,935...117,282,151
Ensembl chr13:117,180,544...117,274,587
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G |
PIK3CB |
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta |
disease_progression |
ISO |
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RGD |
PMID:21188471 PMID:26956052 |
RGD:11343921 RGD:13782050 |
NCBI chr13:79,427,033...79,610,840
Ensembl chr13:79,425,835...79,610,840
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G |
PIK3CD |
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta |
disease_progression |
ISO |
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RGD |
PMID:24523440 |
RGD:13782051 |
NCBI chr 6:70,026,254...70,086,950
Ensembl chr 6:70,026,373...70,084,742
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G |
PIM1 |
Pim-1 proto-oncogene, serine/threonine kinase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23724780 |
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NCBI chr 7:32,788,246...32,793,882
Ensembl chr 7:32,788,291...32,793,878
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G |
PML |
PML nuclear body scaffold |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23440206 |
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NCBI chr 7:59,405,044...59,450,155
Ensembl chr 7:59,405,053...59,450,105
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G |
POLK |
DNA polymerase kappa |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26651356 |
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NCBI chr 2:84,555,648...84,619,490
Ensembl chr 2:84,538,056...84,619,485
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G |
POT1 |
protection of telomeres 1 |
|
ISO |
ClinVar Annotator: match by term: Glioblastoma, somatic |
ClinVar |
PMID:28492532 |
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NCBI chr18:22,885,704...22,981,893
Ensembl chr18:22,885,749...22,981,890
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G |
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...
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NCBI chr13:68,301,566...68,433,951
Ensembl chr13:68,302,322...68,433,944
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G |
PRKN |
parkin RBR E3 ubiquitin protein ligase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19946270 |
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NCBI chr 1:5,698,508...6,731,132
Ensembl chr 1:5,465,312...6,730,872
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G |
PROM1 |
prominin 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18679414 PMID:18829568 PMID:19718438 |
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NCBI chr 8:11,215,659...11,331,442
Ensembl chr 8:11,215,663...11,317,312
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G |
PTGS1 |
prostaglandin-endoperoxide synthase 1 |
disease_progression |
ISO |
protein:increased expression:microglia, macrophage, |
RGD |
PMID:10229132 PMID:11121536 |
RGD:5688245 RGD:5688250 |
NCBI chr 1:262,456,106...262,482,159
Ensembl chr 1:262,456,155...262,483,035
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G |
PTGS2 |
prostaglandin-endoperoxide synthase 2 |
disease_progression |
ISO |
protein:increased expression:endothelial cell |
RGD |
PMID:10229132 PMID:11121536 |
RGD:5688245 RGD:5688250 |
NCBI chr 9:127,850,164...127,858,866
Ensembl chr 9:127,850,015...127,858,884
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G |
PTK2 |
protein tyrosine kinase 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:12811834 |
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NCBI chr 4:2,656,606...2,896,060
Ensembl chr 4:2,656,614...2,896,054
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G |
PTN |
pleiotrophin |
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ISO |
protein:increased expression:brain (human) |
RGD |
PMID:14692702 |
RGD:151660507 |
NCBI chr18:12,219,708...12,309,045
Ensembl chr18:12,219,787...12,309,044
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G |
PTPRB |
protein tyrosine phosphatase receptor type B |
treatment |
ISO |
human cells in mouse model protein:increased expression:brain (human) |
RGD |
PMID:14692702 PMID:15831233 PMID:16489031 |
RGD:151660504 RGD:151660507 RGD:151664746 |
NCBI chr 5:34,656,460...34,794,838
Ensembl chr 5:34,659,964...34,794,289
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G |
RB1 |
RB transcriptional corepressor 1 |
severity |
ISO |
DNA:hypermethylation:promoter: |
RGD |
PMID:11204276 |
RGD:13782067 |
NCBI chr11:19,186,754...19,317,642
Ensembl chr11:19,186,761...19,317,690
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G |
RECK |
reversion inducing cysteine rich protein with kazal motifs |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:20127710 |
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NCBI chr 1:236,821,243...236,898,280
Ensembl chr 1:236,821,414...236,898,276
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G |
RPL35A |
ribosomal protein L35a |
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ISO |
mRNA:increased expression:brain (human) |
RGD |
PMID:10880769 |
RGD:11535077 |
NCBI chr13:134,588,288...134,591,873
Ensembl chr13:134,588,392...134,591,868
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G |
RPL5 |
ribosomal protein L5 |
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ISO |
DNA:mutations:multiple (human) |
RGD |
PMID:26892688 |
RGD:11535147 |
NCBI chr 4:124,359,786...124,367,612
Ensembl chr 4:124,358,594...124,367,645
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G |
RUNX1 |
RUNX family transcription factor 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23582323 |
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NCBI chr13:198,371,835...198,635,648
Ensembl chr13:198,371,837...198,638,189
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G |
RUNX3 |
RUNX family transcription factor 3 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16909125 |
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NCBI chr 6:82,531,203...82,595,044
Ensembl chr 6:82,531,559...82,595,026
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G |
SEPTIN14 |
septin 14 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23917401 |
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NCBI chr 3:16,988,590...17,026,258
Ensembl chr 3:16,991,002...17,026,949
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G |
SERPING1 |
serpin family G member 1 |
treatment |
ISO |
|
RGD |
PMID:28880870 |
RGD:13525003 |
NCBI chr 2:13,324,160...13,338,826
Ensembl chr 2:13,324,158...13,338,663
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G |
SLC7A5 |
solute carrier family 7 member 5 |
disease_progression |
ISO |
|
RGD |
PMID:16496379 |
RGD:151361115 |
NCBI chr 6:1,545,940...1,574,298
Ensembl chr 6:1,545,944...1,574,285
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G |
SLX4 |
SLX4 structure-specific endonuclease subunit |
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ISO |
ClinVar Annotator: match by term: Glioblastoma multiforme |
ClinVar |
PMID:25741868 |
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NCBI chr 3:38,646,904...38,670,173
Ensembl chr 3:38,646,938...38,670,168
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G |
SRRT |
serrate, RNA effector molecule |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30542699 |
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NCBI chr 3:8,717,782...8,731,204
Ensembl chr 3:8,717,785...8,731,201
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G |
STAT3 |
signal transducer and activator of transcription 3 |
disease_progression |
ISO |
mRNA, protein:increased expression:brain (human) |
RGD |
PMID:31783691 |
RGD:151667907 |
NCBI chr12:20,407,316...20,471,091
Ensembl chr12:20,407,233...20,472,992
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G |
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 chr12:20,474,221...20,498,785
Ensembl chr12:20,474,227...20,499,138
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G |
SUZ12 |
SUZ12 polycomb repressive complex 2 subunit |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25119042 |
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NCBI chr12:42,983,597...43,032,671
Ensembl chr12:42,983,601...43,032,654
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G |
TES |
testin LIM domain protein |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16909125 |
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NCBI chr18:29,895,878...29,936,248
Ensembl chr18:29,895,882...29,936,233
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G |
TGM2 |
transglutaminase 2 |
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ISO |
CTD Direct Evidence: marker/mechanism|therapeutic |
CTD |
PMID:16170020 PMID:17099729 |
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NCBI chr17:41,186,765...41,221,686
Ensembl chr17:41,186,770...41,221,637
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G |
TMEM135 |
transmembrane protein 135 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30705370 |
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NCBI chr 9:20,741,085...21,020,899
Ensembl chr 9:20,721,991...21,021,130
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G |
TNC |
tenascin C |
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ISO |
|
RGD |
PMID:16928692 |
RGD:4889612 |
NCBI chr 1:255,533,235...255,630,381
Ensembl chr 1:255,533,238...255,630,376
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G |
TNFSF10 |
TNF superfamily member 10 |
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ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:21877938 |
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NCBI chr13:111,021,952...111,103,060
Ensembl chr13:110,983,298...111,038,324
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G |
TP53 |
tumor protein p53 |
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ISO |
ClinVar Annotator: match by term: Glioblastoma, somatic |
ClinVar |
PMID:1467311 PMID:1565143 PMID:1565144 PMID:1591732 PMID:1631137 PMID:1683921 PMID:1975675 PMID:1978757 PMID:1999338 PMID:2046748 PMID:2750177 PMID:2932480 PMID:4122735 PMID:7565304 PMID:7651740 PMID:7732013 PMID:7783166 PMID:7887414 PMID:8023157 PMID:8062826 PMID:8118819 PMID:8164043 PMID:8242752 PMID:8423216 PMID:8425176 PMID:8479749 PMID:8550239 PMID:8718514 PMID:8825920 PMID:9047394 PMID:9218725 PMID:9242456 PMID:9364015 PMID:9399838 PMID:9446663 PMID:9536098 PMID:9546439 PMID:9572492 PMID:9582268 PMID:9607760 PMID:9627118 PMID:9662334 PMID:9667734 PMID:9681828 PMID:9704930 PMID:9704931 PMID:9891044 PMID:10229196 PMID:10411893 PMID:10432928 PMID:10486318 PMID:10519380 PMID:10589545 PMID:10797439 PMID:10802655 PMID:10864200 PMID:10922393 PMID:11139324 PMID:11180592 PMID:11370630 PMID:11403041 PMID:11420676 PMID:11479205 PMID:11481490 PMID:11521785 PMID:11600572 PMID:11753428 PMID:11782540 PMID:12007217 PMID:12019170 PMID:12567188 PMID:12619118 PMID:12672316 PMID:12826609 PMID:12885464 PMID:12917626 PMID:14743206 PMID:15037740 PMID:15121773 PMID:15355915 PMID:15381368 PMID:15390294 PMID:15607980 PMID:15607981 PMID:15722483 PMID:15741269 PMID:15781620 PMID:15925506 PMID:15951970 PMID:15977174 PMID:16033918 PMID:16199549 PMID:16258005 PMID:16401470 PMID:16489069 PMID:16494995 PMID:16551709 PMID:16682957 PMID:16750598 PMID:16818505 PMID:16861262 PMID:16933305 PMID:16964264 PMID:16969106 PMID:17015838 PMID:17308077 PMID:17311302 PMID:17535973 PMID:17540308 PMID:17567834 PMID:17576681 PMID:17599946 PMID:17606709 PMID:17636407 PMID:17638920 PMID:17940213 PMID:18248785 PMID:18270399 PMID:18307025 PMID:18373486 PMID:18511570 PMID:18685109 PMID:18940924 PMID:18989156 PMID:19046423 PMID:19101993 PMID:19127115 PMID:19367569 PMID:19454241 PMID:19521721 PMID:19556618 PMID:19711436 PMID:19714490 PMID:19717094 PMID:19850740 PMID:19877175 PMID:19881536 PMID:20028212 PMID:20113312 PMID:20127978 PMID:20128691 PMID:20301488 PMID:20407015 PMID:20436704 PMID:20455025 PMID:20516128 PMID:20520810 PMID:20522432 PMID:20593220 PMID:20689556 PMID:20693561 PMID:20805372 PMID:21118481 PMID:21187651 PMID:21192060 PMID:21305319 PMID:21343334 PMID:21348412 PMID:21356188 PMID:21440489 PMID:21445056 PMID:21445348 PMID:21464421 PMID:21468523 PMID:21484931 PMID:21519010 PMID:21535297 PMID:21552135 PMID:21601526 PMID:21619694 PMID:21630152 PMID:21665182 PMID:21665242 PMID:21672450 PMID:21761402 PMID:22004116 PMID:22006311 PMID:22110706 PMID:22170717 PMID:22186996 PMID:22233476 PMID:22455664 PMID:22619358 PMID:22653678 PMID:22703879 PMID:22729912 PMID:22744426 PMID:22811390 PMID:22822097 PMID:22869713 PMID:22915647 PMID:22923379 PMID:23056559 PMID:23161690 PMID:23172776 PMID:23175693 PMID:23246812 PMID:23259501 PMID:23263379 PMID:23469205 PMID:23484829 PMID:23538418 PMID:23570263 PMID:23624782 PMID:23630318 PMID:23639312 PMID:23713777 PMID:23733769 PMID:23792586 PMID:23794094 PMID:23887774 PMID:23894400 PMID:24033266 PMID:24065105 PMID:24076587 PMID:24122735 PMID:24382691 PMID:24501221 PMID:24573247 PMID:24590827 PMID:24651012 PMID:24677579 PMID:24702488 PMID:24728327 PMID:24764719 PMID:24810334 PMID:24835218 PMID:24884479 PMID:24936644 PMID:25059482 PMID:25256166 PMID:25326637 PMID:25404506 PMID:25525159 PMID:25584008 PMID:25612911 PMID:25736369 PMID:25741868 PMID:25765855 PMID:25773284 PMID:25787918 PMID:25896519 PMID:25945745 PMID:25952993 PMID:26014290 PMID:26205489 PMID:26225655 PMID:26230955 PMID:26332594 PMID:26425688 PMID:26452166 PMID:26467025 PMID:26572807 PMID:26580448 PMID:26585234 PMID:26681051 PMID:26681312 PMID:26681682 PMID:26718964 PMID:26786923 PMID:26822237 PMID:26845104 PMID:26911350 PMID:27022024 PMID:27081505 PMID:27101110 PMID:27146902 PMID:27153395 PMID:27223487 PMID:27276561 PMID:27311873 PMID:27328919 PMID:27374712 PMID:27463065 PMID:27501770 PMID:27516001 PMID:27601191 PMID:27621308 PMID:27622479 PMID:27663983 PMID:27680515 PMID:27683180 PMID:27714481 PMID:27895058 PMID:27959731 PMID:27993330 PMID:28152038 PMID:28154273 PMID:28349240 PMID:28369373 PMID:28387921 PMID:28453743 PMID:28453760 PMID:28472496 PMID:28492532 PMID:28573494 PMID:28664506 PMID:28724667 PMID:28756477 PMID:28780976 PMID:28861920 PMID:28864397 PMID:28873162 PMID:28968711 PMID:28984303 PMID:29070607 PMID:29300620 PMID:29324801 PMID:29392648 PMID:29478780 PMID:29489754 PMID:29522266 PMID:29575851 PMID:29753700 PMID:29922827 PMID:29956451 PMID:29979965 PMID:30042151 PMID:30076369 PMID:30092803 PMID:30107858 PMID:30147334 PMID:30224644 PMID:30287823 PMID:30327374 PMID:30352134 PMID:30588330 PMID:30596752 PMID:30630526 PMID:30709381 PMID:30816478 PMID:30840781 PMID:30851333 PMID:30982232 PMID:31081129 PMID:31089155 PMID:31105275 PMID:31321604 PMID:31472337 PMID:31494577 PMID:31567591 PMID:31742824 PMID:31744167 PMID:31748977 PMID:31775759 PMID:31845386 PMID:31882575 PMID:31978118 PMID:31983162 PMID:32000721 PMID:32039725 PMID:32156018 PMID:32292755 PMID:32295079 PMID:32322420 PMID:32427313 PMID:32592449 PMID:32658383 PMID:32671623 PMID:32817165 PMID:32832836 PMID:32888145 PMID:32906206 PMID:32980694 PMID:32986223 PMID:33163847 PMID:33245408 PMID:33257846 PMID:33258288 PMID:33300245 PMID:33372952 PMID:33471991 PMID:33603772 PMID:33637564 PMID:33840814 PMID:34088725 PMID:34166060 PMID:34240179 PMID:34249098 PMID:34299313 PMID:34503094 PMID:34529667 PMID:34540492 PMID:34670578 PMID:34709361 PMID:34754157 PMID:34885220 PMID:35043155 PMID:35367578 PMID:35802772 PMID:35974385 PMID:36003761 PMID:36008825 PMID:36309086 PMID:36329109 PMID:36988593 PMID:37653074 PMID:39060302 More...
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NCBI chr12:52,939,643...52,953,786
Ensembl chr12:52,939,644...52,953,818
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G |
TP53BP1 |
tumor protein p53 binding protein 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30705370 |
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NCBI chr 1:127,958,500...128,032,370
Ensembl chr 1:127,959,213...128,028,712
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G |
TRMT11 |
tRNA methyltransferase 11 homolog |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30705370 |
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NCBI chr 1:36,930,857...37,002,079
Ensembl chr 1:36,940,334...37,002,056
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G |
VEGFA |
vascular endothelial growth factor A |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16356833 |
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NCBI chr 7:38,746,393...38,762,282
Ensembl chr 7:38,746,052...38,761,366
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G |
WT1 |
WT1 transcription factor |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20820871 |
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NCBI chr 2:28,411,467...28,456,007
Ensembl chr 2:28,411,803...28,455,997
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G |
XRCC1 |
X-ray repair cross complementing 1 |
susceptibility |
ISO |
DNA:SNP:exon 10: p.R399Q (human) |
RGD |
PMID:18330515 |
RGD:401827274 |
NCBI chr 6:50,403,691...50,425,730
Ensembl chr 6:50,403,689...50,425,729
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G |
ZBTB7A |
zinc finger and BTB domain containing 7A |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25875864 |
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NCBI chr 2:74,678,293...74,699,347
Ensembl chr 2:74,681,193...74,694,869
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G |
RB1 |
RB transcriptional corepressor 1 |
|
ISO |
RNA:decreased expression:brain: |
RGD |
PMID:22157621 |
RGD:13782062 |
NCBI chr11:19,186,754...19,317,642
Ensembl chr11:19,186,761...19,317,690
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G |
CCL2 |
chemokine (C-C motif) ligand 2 |
severity |
ISO |
mouse gene in a rat model |
RGD |
PMID:7489565 |
RGD:11526112 |
NCBI chr12:40,798,109...40,800,013
Ensembl chr12:40,798,109...40,800,026
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G |
CYP2B6B |
cytochrome P450 family 2 subfamily B member 6B |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:9766669 PMID:11389073 |
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NCBI chr 6:49,158,175...49,173,872
Ensembl chr 6:49,110,812...49,178,334
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G |
CYP2C42 |
cytochrome P450 C42 |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:9766669 |
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NCBI chr14:106,666,445...106,701,809
Ensembl chr14:106,666,419...106,713,121
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G |
PLAU |
plasminogen activator, urokinase |
severity |
ISO |
mouse gene in rat model |
RGD |
PMID:20606645 |
RGD:7241591 |
NCBI chr14:76,629,313...76,635,173
Ensembl chr14:76,629,299...76,635,172
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G |
POR |
cytochrome p450 oxidoreductase |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:9766669 |
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NCBI chr 3:10,212,734...10,272,184
Ensembl chr 3:10,212,735...10,281,823
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G |
PTGS1 |
prostaglandin-endoperoxide synthase 1 |
|
ISO |
protein:increased expression:microglia, macrophage, |
RGD |
PMID:10229132 |
RGD:5688250 |
NCBI chr 1:262,456,106...262,482,159
Ensembl chr 1:262,456,155...262,483,035
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G |
PTGS2 |
prostaglandin-endoperoxide synthase 2 |
|
ISO |
protein:increased expression:endothelial cell |
RGD |
PMID:10229132 |
RGD:5688250 |
NCBI chr 9:127,850,164...127,858,866
Ensembl chr 9:127,850,015...127,858,884
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G |
VEGFA |
vascular endothelial growth factor A |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16533777 |
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NCBI chr 7:38,746,393...38,762,282
Ensembl chr 7:38,746,052...38,761,366
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G |
GLMN |
glomulin, FKBP associated protein |
|
ISO |
ClinVar Annotator: match by term: Glomuvenous malformation | ClinVar Annotator: match by term: Glomuvenous malformations |
OMIM ClinVar |
PMID:11175297 PMID:11845407 PMID:15689436 PMID:23375657 PMID:23801931 PMID:24033266 PMID:25741868 PMID:28492532 PMID:30460983 PMID:31483481 More...
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NCBI chr 4:124,773,957...124,813,336
Ensembl chr 4:124,773,980...124,813,335
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G |
GLMN |
glomulin, FKBP associated protein |
|
ISO |
glomuvenous malformations |
RGD |
PMID:11845407 |
RGD:1598992 |
NCBI chr 4:124,773,957...124,813,336
Ensembl chr 4:124,773,980...124,813,335
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G |
DLL4 |
delta like canonical Notch ligand 4 |
|
ISO |
mRNA,protein:increased expression:anterior temporal lobe |
RGD |
PMID:26951238 |
RGD:155663351 |
NCBI chr 1:130,376,720...130,386,411
Ensembl chr 1:130,376,721...130,386,411
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G |
EPHB4 |
EPH receptor B4 |
|
ISO |
mRNA,protein:decreased expression:anterior temporal lobe |
RGD |
PMID:26951238 |
RGD:155663351 |
NCBI chr 3:8,671,052...8,689,778
Ensembl chr 3:8,668,859...8,689,783
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G |
HES1 |
hes family bHLH transcription factor 1 |
|
ISO |
mRNA:increased expression:anterior temporal lobe |
RGD |
PMID:26951238 |
RGD:155663351 |
NCBI chr13:131,135,970...131,137,865
Ensembl chr13:131,135,725...131,138,237
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G |
HEY1 |
hes related family bHLH transcription factor with YRPW motif 1 |
|
ISO |
mRNA,protein:increased expression:anterior temporal lobe |
RGD |
PMID:26951238 |
RGD:155663351 |
NCBI chr 4:56,859,640...56,863,807
Ensembl chr 4:56,859,663...56,863,788
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G |
HEY2 |
hes related family bHLH transcription factor with YRPW motif 2 |
|
ISO |
mRNA:increased expression:anterior temporal lobe |
RGD |
PMID:26951238 |
RGD:155663351 |
NCBI chr 1:37,219,887...37,231,321
Ensembl chr 1:37,219,883...37,231,385
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G |
KDR |
kinase insert domain receptor |
|
ISO |
mRNA:increased expression:anterior temporal lobe |
RGD |
PMID:26951238 |
RGD:155663351 |
NCBI chr 8:41,809,116...41,856,379
Ensembl chr 8:41,809,122...41,856,336
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G |
NOTCH1 |
notch receptor 1 |
|
ISO |
mRNA,protein:increased expression:anterior temporal lobe |
RGD |
PMID:26951238 |
RGD:155663351 |
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G |
NOTCH4 |
notch receptor 4 |
|
ISO |
mRNA,protein:increased expression:anterior temporal lobe |
RGD |
PMID:26951238 |
RGD:155663351 |
NCBI chr 7:24,231,293...24,256,281
Ensembl chr 7:24,231,293...24,256,281
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G |
PTEN |
phosphatase and tensin homolog |
|
ISO |
protein:decreased expression:anterior temporal lobe |
RGD |
PMID:26951238 |
RGD:155663351 |
NCBI chr14:99,929,590...100,021,619
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G |
TSC2 |
TSC complex subunit 2 |
|
ISO |
DNA:mutations:multiple associated with tuberous sclerosis;DNA:mutations:multiple |
RGD |
PMID:22251200 PMID:29512829 |
RGD:21079730 RGD:21079732 |
NCBI chr 3:39,898,924...39,935,579
Ensembl chr 3:39,898,925...39,937,371
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G |
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...
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NCBI chr 3:22,586,881...22,612,837
Ensembl chr 3:22,586,856...22,612,834
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G |
RUNX1 |
RUNX family transcription factor 1 |
|
ISO |
ClinVar Annotator: match by term: Malignant ependymoma |
ClinVar |
PMID:23753029 PMID:25741868 PMID:26580448 PMID:28492532 PMID:28801348 PMID:29365323 PMID:34166225 More...
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NCBI chr13:198,371,835...198,635,648
Ensembl chr13:198,371,837...198,638,189
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G |
ACVR1 |
activin A receptor type 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24705251 PMID:24705252 PMID:24705254 |
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NCBI chr15:64,749,478...64,891,653
Ensembl chr15:64,750,796...64,891,544
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G |
ADGRA2 |
adhesion G protein-coupled receptor A2 |
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ISO |
ClinVar Annotator: match by term: Ependymoma |
ClinVar |
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NCBI chr15:48,572,953...48,611,034
Ensembl chr15:48,573,197...48,610,668
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G |
AKT2 |
AKT serine/threonine kinase 2 |
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ISO |
protein:increased expression:cytoplasm (human) |
RGD |
PMID:19330838 |
RGD:2313297 |
NCBI chr 6:48,555,785...48,620,472
Ensembl chr 6:48,555,795...48,587,919
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G |
AMOTL1 |
angiomotin like 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:34480788 |
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NCBI chr 9:26,811,872...26,978,107
Ensembl chr 9:26,864,312...26,973,552
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G |
ANGPT2 |
angiopoietin 2 |
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ISO |
protein:increased expression:brain (rat) |
RGD |
PMID:18615861 |
RGD:2314189 |
NCBI chr15:37,544,177...37,600,925
Ensembl chr15:37,544,707...37,599,041
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G |
APC |
APC regulator of WNT signaling pathway |
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ISO |
ClinVar Annotator: match by term: Malignant glioma |
ClinVar |
PMID:25741868 |
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NCBI chr 2:116,913,354...116,985,303
Ensembl chr 2:116,812,582...117,034,887
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G |
APOD |
apolipoprotein D |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16865689 |
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NCBI chr13:132,514,546...132,562,594
Ensembl chr13:132,514,949...132,562,599
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G |
ARAF |
A-Raf proto-oncogene, serine/threonine kinase |
disease_progression |
ISO |
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RGD |
PMID:27852048 |
RGD:13702476 |
NCBI chr X:42,078,202...42,090,250
Ensembl chr X:42,078,206...42,090,250
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G |
AREG |
amphiregulin |
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ISO |
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RGD |
PMID:8621257 |
RGD:2292668 |
NCBI chr 8:70,417,935...70,428,106
Ensembl chr 8:70,417,923...70,428,102
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G |
ARHGAP32 |
Rho GTPase activating protein 32 |
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ISO |
ClinVar Annotator: match by term: Ependymoma |
ClinVar |
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NCBI chr 9:55,903,365...56,177,639
Ensembl chr 9:55,906,954...56,177,551
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G |
ARID1B |
AT-rich interaction domain 1B |
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ISO |
ClinVar Annotator: match by term: Astrocytoma |
ClinVar |
PMID:25741868 |
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NCBI chr 1:9,791,627...10,227,381
Ensembl chr 1:9,791,633...10,227,502
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G |
ASPM |
assembly factor for spindle microtubules |
disease_progression |
ISO |
mRNA:increased expression:brain: |
RGD |
PMID:20142996 |
RGD:13442488 |
NCBI chr10:19,971,516...20,039,680
Ensembl chr10:19,975,192...20,039,623
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G |
ATF5 |
activating transcription factor 5 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28861715 |
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NCBI chr 6:54,945,067...54,950,142
Ensembl chr 6:54,945,119...54,950,137
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G |
ATG7 |
autophagy related 7 |
treatment |
ISO |
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RGD |
PMID:25542083 |
RGD:11557994 |
NCBI chr13:67,301,756...67,699,141
Ensembl chr13:67,417,938...67,707,654
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G |
ATM |
ATM serine/threonine kinase |
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ISO |
ClinVar Annotator: match by term: Malignant glioma |
ClinVar |
PMID:8659541 PMID:8808599 PMID:9000145 PMID:9463314 PMID:10330348 PMID:10817650 PMID:10980530 PMID:11298136 PMID:12552559 PMID:21445571 PMID:21459046 PMID:21792198 PMID:25741868 PMID:26681312 PMID:28492532 PMID:29478780 PMID:30549301 PMID:33471991 More...
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NCBI chr 9:36,620,656...36,759,555
Ensembl chr 9:36,620,657...36,759,552
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G |
ATP1B2 |
ATPase Na+/K+ transporting subunit beta 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16865689 |
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NCBI chr12:52,925,697...52,932,638
Ensembl chr12:52,925,693...52,932,635
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G |
ATRX |
ATRX chromatin remodeler |
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ISO |
DNA:mutations: :multiple CTD Direct Evidence: marker/mechanism |
RGD CTD |
PMID:23104868 PMID:23583981 PMID:24705251 |
RGD:11040587 |
NCBI chr X:61,584,028...61,872,341
Ensembl chr X:61,584,848...61,872,287
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G |
BAD |
BCL2 associated agonist of cell death |
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ISO |
protein:increased phosphorylation:brain (rat) |
RGD |
PMID:16944316 |
RGD:2292675 |
NCBI chr 2:7,831,192...7,842,864
Ensembl chr 2:7,830,920...7,842,863
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G |
BANP |
BTG3 associated nuclear protein |
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ISO |
ClinVar Annotator: match by term: Ependymoma |
ClinVar |
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NCBI chr 6:1,421,460...1,495,484
Ensembl chr 6:1,421,462...1,495,486
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G |
BAP1 |
BRCA1 associated deubiquitinase 1 |
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ISO |
ClinVar Annotator: match by term: Astrocytoma |
ClinVar |
PMID:25741868 |
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NCBI chr13:34,544,570...34,553,538
Ensembl chr13:34,544,581...34,553,483
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G |
BARHL1 |
BarH like homeobox 1 |
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ISO |
protein:increased expression:brain: |
RGD |
PMID:28956815 |
RGD:14390165 |
NCBI chr 1:272,373,125...272,380,223
Ensembl chr 1:272,373,402...272,381,224
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G |
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 chr 4:93,432,331...93,450,895
Ensembl chr 4:93,432,330...93,450,831
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G |
BDKRB2 |
bradykinin receptor B2 |
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ISO |
mRNA:increased expression:brain |
RGD |
PMID:20080302 |
RGD:4891047 |
NCBI chr 7:117,438,622...117,472,005
Ensembl chr 7:117,438,713...117,472,005
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G |
BIRC5 |
baculoviral IAP repeat containing 5 |
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ISO |
protein:increased expression:brain |
RGD |
PMID:17701349 |
RGD:2293131 |
NCBI chr12:3,747,276...3,755,214
Ensembl chr12:3,747,279...3,755,215
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G |
BMI1 |
BMI1 proto-oncogene, polycomb ring finger |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23383216 |
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NCBI chr10:52,586,089...52,596,154
Ensembl chr10:52,586,509...52,596,564
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G |
BRAF |
B-Raf proto-oncogene, serine/threonine kinase |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23583981 |
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NCBI chr18:8,957,963...9,132,558
Ensembl chr18:8,957,991...9,132,553
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G |
BRCA2 |
BRCA2 DNA repair associated |
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ISO |
ClinVar Annotator: match by term: Glioma susceptibility 3 ClinVar Annotator: match by term: Glioma susceptibility 3 | ClinVar Annotator: match by term: Glioma susceptibility 9 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 Annotator: match by term: Glioma susceptibility 9 | ClinVar Annotator: match by term: Malignant glioma 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 OMIM |
PMID:186727 PMID:251866 PMID:278235 PMID:1772447 PMID:2200631 PMID:2661312 PMID:8075631 PMID:8524414 PMID:8589730 PMID:8665505 PMID:8673090 PMID:8673091 PMID:8673092 PMID:8705994 PMID:8758903 PMID:8841191 PMID:8841192 PMID:8896551 PMID:8898735 PMID:8988179 PMID:9012404 PMID:9042907 PMID:9042909 PMID:9145676 PMID:9150150 PMID:9150152 PMID:9150153 PMID:9150154 PMID:9150172 PMID:9150174 PMID:9361038 PMID:9536098 PMID:9585608 PMID:9585613 PMID:9667259 PMID:9758598 PMID:9771877 PMID:9792861 PMID:9971877 PMID:10227398 PMID:10359546 PMID:10399947 PMID:10417300 PMID:10433620 PMID:10449599 PMID:10464609 PMID:10464624 PMID:10486320 PMID:10550133 PMID:10570174 PMID:10595255 PMID:10638982 PMID:10644434 PMID:10660329 PMID:10682686 PMID:10699917 PMID:10717622 PMID:10733239 PMID:10739756 PMID:10790213 PMID:10874312 PMID:10923033 PMID:10978364 PMID:11030417 PMID:11030418 PMID:11039575 PMID:11044354 PMID:11062481 PMID:11149425 PMID:11158174 PMID:11170890 PMID:11179017 PMID:11207042 PMID:11251181 PMID:11307153 PMID:11359068 PMID:11389159 PMID:11400546 PMID:11466700 PMID:11504767 PMID:11556836 PMID:11597388 PMID:11710890 PMID:11754111 PMID:11802209 PMID:11843247 PMID:11857748 PMID:11896095 PMID:11897832 PMID:11920621 PMID:11927503 PMID:11929857 PMID:11938448 PMID:12065746 PMID:12097290 PMID:12142080 PMID:12181777 PMID:12204006 PMID:12215251 PMID:12228710 PMID:12373604 PMID:12402332 PMID:12442265 PMID:12442275 PMID:12473589 PMID:12474142 PMID:12491487 PMID:12556369 PMID:12569143 PMID:12655567 PMID:12698193 PMID:12750261 PMID:12774040 PMID:12845657 PMID:12920083 PMID:12955716 PMID:12960223 PMID:14555511 PMID:14559878 PMID:14576434 PMID:14647210 PMID:14647438 PMID:14670928 PMID:14732925 PMID:14973102 PMID:15024741 PMID:15026808 PMID:15070707 PMID:15117986 PMID:15131399 PMID:15145354 PMID:15146557 PMID:15168169 PMID:15235023 PMID:15290653 PMID:15317758 PMID:15340362 PMID:15382066 PMID:15533909 PMID:15548363 PMID:15635067 PMID:15645491 PMID:15689453 PMID:15695382 PMID:15744044 PMID:15766593 PMID:15800311 PMID:15876480 PMID:15887246 PMID:15889636 PMID:15944772 PMID:15955690 PMID:15983021 PMID:15994883 PMID:16030099 PMID:16115142 PMID:16168118 PMID:16168123 PMID:16170354 PMID:16199547 PMID:16205630 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:17341484 PMID:17453335 PMID:17513806 PMID:17574839 PMID:17576681 PMID:17591843 PMID:17636422 PMID:17688236 PMID:17700570 PMID:17724471 PMID:17767707 PMID:17850627 PMID:17851763 PMID:17899372 PMID:17924331 PMID:17925560 PMID:17972171 PMID:18042939 PMID:18182994 PMID:18284688 PMID:18286383 PMID:18375895 PMID:18393245 PMID:18424508 PMID:18445692 PMID:18446624 PMID:18451181 PMID:18465347 PMID:18489799 PMID:18497862 PMID:18547621 PMID:18563556 PMID:18607349 PMID:18627636 PMID:18694767 PMID:18703817 PMID:18704680 PMID:18724707 PMID:18752448 PMID:18779604 PMID:18819001 PMID:18821011 PMID:18844490 PMID:18951461 PMID:19016756 PMID:19043619 PMID:19052777 PMID:19188187 PMID:19200354 PMID:19241424 PMID:19353265 PMID:19471317 PMID:19491284 PMID:19499246 PMID:19530235 PMID:19563646 PMID:19574032 PMID:19620486 PMID:19654294 PMID:19656164 PMID:19656415 PMID:19796187 PMID:19799798 PMID:19861517 PMID:19863560 PMID:19912264 PMID:19941162 PMID:19941167 PMID:19949876 PMID:19967274 PMID:20033483 PMID:20104584 PMID:20135345 PMID:20167696 PMID:20215541 PMID:20216074 PMID:20301425 PMID:20373018 PMID:20383589 PMID:20406929 PMID:20608899 PMID:20616022 PMID:20694749 PMID:20736950 PMID:20807450 PMID:20815029 PMID:20858050 PMID:20859677 PMID:20887823 PMID:20960228 PMID:21120943 PMID:21138478 PMID:21203900 PMID:21205087 PMID:21232165 PMID:21233401 PMID:21324516 PMID:21356067 PMID:21394826 PMID:21465317 PMID:21497495 PMID:21508395 PMID:21520273 PMID:21520333 PMID:21523855 PMID:21548014 PMID:21559243 PMID:21598239 PMID:21638052 PMID:21643751 PMID:21673748 PMID:21702907 PMID:21709188 PMID:21719596 PMID:21720365 PMID:21735045 PMID:21741379 PMID:21913181 PMID:21918853 PMID:21952622 PMID:21990134 PMID:21990165 PMID:22006311 PMID:22009639 PMID:22034289 PMID:22044689 PMID:22072316 PMID:22085629 PMID:22109874 PMID:22144684 PMID:22160602 PMID:22194698 PMID:22217648 PMID:22382806 PMID:22399190 PMID:22425665 PMID:22426013 PMID:22430266 PMID:22460208 PMID:22476429 PMID:22486713 PMID:22505045 PMID:22535016 PMID:22578220 PMID:22632462 PMID:22666503 PMID:22678057 PMID:22682623 PMID:22684231 PMID:22703879 PMID:22711857 PMID:22713736 PMID:22729890 PMID:22752604 PMID:22762150 PMID:22776961 PMID:22798144 PMID:22848303 PMID:22866093 PMID:22875147 PMID:22895246 PMID:22923021 PMID:22970155 PMID:22995991 PMID:23028338 PMID:23035815 PMID:23096105 PMID:23096355 PMID:23108138 PMID:23110154 PMID:23146383 PMID:23199084 PMID:23231788 PMID:23233716 PMID:23318356 PMID:23320992 PMID:23341105 PMID:23415752 PMID:23451180 PMID:23469205 PMID:23479189 PMID:23569310 PMID:23569316 PMID:23613520 PMID:23621881 PMID:23633455 PMID:23658460 PMID:23683081 PMID:23725378 PMID:23767878 PMID:23884708 PMID:23929434 PMID:23940062 PMID:23942203 PMID:23961350 PMID:23966579 PMID:23977390 PMID:24010542 PMID:24013206 PMID:24033266 PMID:24052750 PMID:24055113 PMID:24123850 PMID:24141157 PMID:24156927 PMID:24212087 PMID:24249303 PMID:24259538 PMID:24301060 PMID:24312913 PMID:24323938 PMID:24333842 PMID:24372583 PMID:24504028 PMID:24528374 PMID:24549055 PMID:24556621 PMID:24578176 PMID:24607278 PMID:24618965 PMID:24728189 PMID:24728327 PMID:24735155 PMID:24737347 PMID:24814045 PMID:24817641 PMID:24830819 PMID:24884479 PMID:24916970 PMID:25007954 PMID:25066507 PMID:25072261 PMID:25085752 PMID:25136594 PMID:25146914 PMID:25186627 PMID:25233892 PMID:25236687 PMID:25256924 PMID:25274553 PMID:25330149 PMID:25348012 PMID:25371446 PMID:25381700 PMID:25382762 PMID:25395318 PMID:25428789 PMID:25447315 PMID:25452441 PMID:25476495 PMID:25479140 PMID:25480878 PMID:25525159 PMID:25556971 PMID:25583207 PMID:25628955 PMID:25637381 PMID:25639900 PMID:25682074 PMID:25685387 PMID:25716084 PMID:25737278 PMID:25741868 PMID:25777348 PMID:25782689 PMID:25802882 PMID:25863477 PMID:25877891 PMID:25884701 PMID:25927356 PMID:25948282 PMID:25980754 PMID:26014432 PMID:26022348 PMID:26026974 PMID:26041759 PMID:26046366 PMID:26064523 PMID:26145171 PMID:26187060 PMID:26207792 PMID:26219728 PMID:26221963 PMID:26250392 PMID:26287763 PMID:26295337 PMID:26300996 PMID:26306726 PMID:26350514 PMID:26360800 PMID:26425718 PMID:26436112 PMID:26439132 PMID:26440929 PMID:26467025 PMID:26541979 PMID:26543556 PMID:26556299 PMID:26566862 PMID:26576347 PMID:26580448 PMID:26586665 PMID:26657402 PMID:26681312 PMID:26687385 PMID:26689913 PMID:26709275 PMID:26724258 PMID:26733283 PMID:26757417 PMID:26786923 PMID:26787237 PMID:26834852 PMID:26845104 PMID:26848529 PMID:26852015 PMID:26867194 PMID:26933808 PMID:26968956 PMID:27000661 PMID:27060066 PMID:27062684 PMID:27124784 PMID:27153395 PMID:27157322 PMID:27165126 PMID:27194814 PMID:27225637 PMID:27257965 PMID:27271530 PMID:27376475 PMID:27406733 PMID:27425403 PMID:27433846 PMID:27456091 PMID:27469594 PMID:27495310 PMID:27535533 PMID:27553368 PMID:27616075 PMID:27732944 PMID:27741520 PMID:27767231 PMID:27831900 PMID:27836010 PMID:27882536 PMID:27914478 PMID:27989354 PMID:28008555 PMID:28039656 PMID:28049253 PMID:28111427 PMID:28127413 PMID:28176296 PMID:28179634 PMID:28195393 PMID:28205045 PMID:28243543 PMID:28281021 PMID:28283652 PMID:28284943 PMID:28294317 PMID:28324225 PMID:28339459 PMID:28346442 PMID:28349240 PMID:28423363 PMID:28476184 PMID:28477318 PMID:28486781 PMID:28492532 PMID:28495237 PMID:28503720 PMID:28528518 PMID:28541631 PMID:28616458 PMID:28632866 PMID:28657667 PMID:28664506 PMID:28680148 PMID:28687971 PMID:28692638 PMID:28715532 PMID:28724667 PMID:28726806 PMID:28726808 PMID:28767289 PMID:28782087 PMID:28802053 PMID:28825054 PMID:28831036 PMID:28843361 PMID:28873162 PMID:28888541 PMID:28905878 PMID:28915716 PMID:28918466 PMID:28944232 PMID:28947987 PMID:28973083 PMID:28985766 PMID:28993434 PMID:29020732 PMID:29053726 PMID:29061375 PMID:29084914 PMID:29088781 PMID:29161300 PMID:29176636 PMID:29192238 PMID:29202330 PMID:29215753 PMID:29263802 PMID:29288066 PMID:29308099 PMID:29310832 PMID:29321669 PMID:29325860 PMID:29335924 PMID:29335925 PMID:29339979 PMID:29348823 PMID:29360161 PMID:29360550 PMID:29368341 PMID:29371908 PMID:29383094 PMID:29394989 PMID:29395620 PMID:29433453 PMID:29435039 PMID:29439820 PMID:29446198 PMID:29470806 PMID:29478780 PMID:29483665 PMID:29489754 PMID:29492181 PMID:29506128 PMID:29566657 PMID:29625052 PMID:29681614 PMID:29752822 PMID:29753700 PMID:29758562 PMID:29790872 PMID:29884136 PMID:29884841 PMID:29907814 PMID:29909963 PMID:29915322 PMID:29922827 PMID:29937315 PMID:29945567 PMID:29961768 PMID:29978187 PMID:29988080 PMID:30014164 PMID:30032850 PMID:30039884 PMID:30040829 PMID:30068706 PMID:30078507 PMID:30093976 PMID:30103829 PMID:30113427 PMID:30122538 PMID:30128899 PMID:30130155 PMID:30152102 PMID:30159786 PMID:30186769 PMID:30192042 PMID:30199306 PMID:30203341 PMID:30217213 PMID:30254663 PMID:30257646 PMID:30262796 PMID:30267214 PMID:30267352 PMID:30274973 PMID:30287823 PMID:30309222 PMID:30309722 PMID:30322717 PMID:30350268 PMID:30400234 PMID:30415210 PMID:30425037 PMID:30447919 PMID:30472649 PMID:30489631 PMID:30548481 PMID:30603682 PMID:30606148 PMID:30609409 PMID:30612635 PMID:30613976 PMID:30620386 PMID:30623411 PMID:30625039 PMID:30630528 PMID:30652428 PMID:30696104 PMID:30702160 PMID:30715675 PMID:30716324 PMID:30720243 PMID:30720863 PMID:30728895 PMID:30736435 PMID:30742731 PMID:30787465 PMID:30792206 PMID:30825404 PMID:30875412 PMID:30877237 PMID:30883245 PMID:30972954 PMID:30982232 PMID:31019283 PMID:31060523 PMID:31090900 PMID:31112341 PMID:31112363 PMID:31131967 PMID:31143373 PMID:31159747 PMID:31174498 PMID:31191615 PMID:31209999 PMID:31214711 PMID:31263054 PMID:31263500 PMID:31263571 PMID:31294896 PMID:31325073 PMID:31331294 PMID:31336956 PMID:31343793 PMID:31360904 PMID:31396961 PMID:31409081 PMID:31411802 PMID:31432501 PMID:31444830 PMID:31447099 PMID:31451522 PMID:31454914 PMID:31569370 PMID:31589614 PMID:31642931 PMID:31666926 PMID:31706072 PMID:31721781 PMID:31742824 PMID:31782247 PMID:31794323 PMID:31825140 PMID:31837001 PMID:31843900 PMID:31853058 PMID:31871109 PMID:31892343 PMID:31911673 PMID:31921681 PMID:31924417 PMID:31948886 PMID:31957001 PMID:31980526 PMID:32022259 PMID:32029870 PMID:32039725 PMID:32064343 PMID:32068069 PMID:32073954 PMID:32091409 PMID:32098980 PMID:32101877 PMID:32132887 PMID:32164353 PMID:32190957 PMID:32255556 PMID:32256484 PMID:32295079 PMID:32300229 PMID:32318955 PMID:32338768 PMID:32341426 PMID:32354836 PMID:32365798 PMID:32393398 PMID:32398771 PMID:32426482 PMID:32427313 PMID:32438681 PMID:32444794 PMID:32467295 PMID:32468491 PMID:32486089 PMID:32489267 PMID:32521533 PMID:32531196 PMID:32532514 PMID:32571290 PMID:32581362 PMID:32606146 PMID:32658311 PMID:32710294 PMID:32719484 PMID:32720237 PMID:32772980 PMID:32778078 PMID:32782288 PMID:32806537 PMID:32817299 PMID:32824581 PMID:32832836 PMID:32846166 PMID:32850417 PMID:32853339 PMID:32854451 PMID:32856869 PMID:32862574 PMID:32872764 PMID:32875559 PMID:32885271 PMID:32918181 PMID:32923906 PMID:32947577 PMID:32980694 PMID:33008098 PMID:33010199 PMID:33054725 PMID:33067490 PMID:33077847 PMID:33087929 PMID:33113089 PMID:33151324 PMID:33287145 PMID:33293522 PMID:33309985 PMID:33372952 PMID:33403015 PMID:33461583 PMID:33461977 PMID:33471991 PMID:33478551 PMID:33558524 PMID:33606809 PMID:33608381 PMID:33609447 PMID:33629534 PMID:33646313 PMID:33654310 PMID:33670479 PMID:33720054 PMID:33773534 PMID:33801055 PMID:33804961 PMID:33842585 PMID:33850850 PMID:33858029 PMID:33875706 PMID:33891299 PMID:33918338 PMID:33964450 PMID:33978741 PMID:34008015 PMID:34022715 PMID:34063308 PMID:34072659 PMID:34097676 PMID:34196900 PMID:34235180 PMID:34250417 PMID:34298626 PMID:34308104 PMID:34308366 PMID:34309133 PMID:34350294 PMID:34399810 PMID:34413315 PMID:34541275 PMID:34567246 PMID:34597585 PMID:34645131 PMID:34657357 PMID:34657373 PMID:34680878 PMID:34687993 PMID:34717758 PMID:34741701 PMID:34906479 PMID:34970085 PMID:35220195 PMID:35264596 PMID:35353237 PMID:35451682 PMID:35464868 PMID:35534704 PMID:35535697 PMID:35665744 PMID:35714671 PMID:35736817 PMID:35741847 PMID:35753294 PMID:35762214 PMID:35864222 PMID:35875314 PMID:35918668 PMID:35949895 PMID:35980532 PMID:36119527 PMID:36169650 PMID:36171877 PMID:36232564 PMID:36243179 PMID:36292577 PMID:36329109 PMID:36370215 PMID:36397405 PMID:36474027 PMID:36627197 PMID:36721989 PMID:36881271 PMID:36922933 PMID:36974006 PMID:36980738 PMID:36988593 PMID:36998040 PMID:37116400 PMID:37216690 PMID:37306523 PMID:37310942 PMID:37349538 PMID:37415649 PMID:37461096 PMID:37791389 PMID:37916805 PMID:38069422 PMID:38153744 PMID:38355628 PMID:38409497 PMID:38417439 PMID:38480854 PMID:38922859 PMID:39062721 PMID:39194688 PMID:39402389 More...
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NCBI chr11:8,805,950...8,858,128
Ensembl chr11:8,805,913...8,857,793
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G |
BRD7 |
bromodomain containing 7 |
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ISO |
protein:increased expression:brain: |
RGD |
PMID:24404152 |
RGD:9586441 |
NCBI chr 6:34,478,008...34,519,622
Ensembl chr 6:34,478,012...34,519,663
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G |
C3 |
complement C3 |
treatment |
ISO |
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RGD |
PMID:21678475 |
RGD:7401275 |
NCBI chr 2:72,431,470...72,471,622
Ensembl chr 2:72,431,212...72,472,228
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G |
C9H11orf65 |
chromosome 9 C11orf65 homolog |
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ISO |
ClinVar Annotator: match by term: Malignant glioma |
ClinVar |
PMID:8659541 PMID:8808599 PMID:9000145 PMID:9463314 PMID:10330348 PMID:10817650 PMID:10980530 PMID:11298136 PMID:12552559 PMID:21445571 PMID:21459046 PMID:21792198 PMID:25741868 PMID:26681312 PMID:28492532 PMID:29478780 PMID:30549301 PMID:33471991 More...
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NCBI chr 9:36,768,819...36,855,318
Ensembl chr 9:36,776,897...36,849,710
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G |
CACNG2 |
calcium voltage-gated channel auxiliary subunit gamma 2 |
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ISO |
ClinVar Annotator: match by term: Ependymoma |
ClinVar |
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NCBI chr 5:11,067,016...11,185,480
Ensembl chr 5:11,067,692...11,185,480
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G |
CAMK2A |
calcium/calmodulin dependent protein kinase II alpha |
disease_progression |
ISO |
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RGD |
PMID:29393370 |
RGD:13702478 |
NCBI chr 2:151,248,356...151,353,907
Ensembl chr 2:151,248,358...151,308,706
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G |
CAMK2B |
calcium/calmodulin dependent protein kinase II beta |
disease_progression |
ISO |
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RGD |
PMID:15750623 |
RGD:13702479 |
NCBI chr18:50,862,225...50,956,263
Ensembl chr18:50,861,466...50,956,225
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G |
CAMKK2 |
calcium/calmodulin dependent protein kinase kinase 2 |
disease_progression |
ISO |
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RGD |
PMID:27012733 |
RGD:13674178 |
NCBI chr14:31,307,418...31,366,504
Ensembl chr14:31,312,049...31,366,499
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G |
CAT |
catalase |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21138464 |
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NCBI chr 2:26,493,664...26,533,881
Ensembl chr 2:26,487,653...26,581,452
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G |
CAV1 |
caveolin 1 |
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ISO |
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RGD |
PMID:22528460 |
RGD:6784517 |
NCBI chr18:29,648,120...29,682,451
Ensembl chr18:29,649,992...29,682,465
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G |
CAV2 |
caveolin 2 |
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ISO |
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RGD |
PMID:22528460 |
RGD:6784517 |
NCBI chr18:29,699,012...29,707,277
Ensembl chr18:29,699,020...29,707,277
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G |
CCN1 |
cellular communication network factor 1 |
exacerbates |
ISO |
human cells in mouse model |
RGD |
PMID:15026334 |
RGD:329845555 |
NCBI chr 4:130,392,404...130,395,179
Ensembl chr 4:130,392,407...130,395,150
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G |
CCND1 |
cyclin D1 |
susceptibility disease_progression |
ISO |
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RGD |
PMID:21844184 PMID:22304571 |
RGD:13681930 RGD:13702091 |
NCBI chr 2:3,621,242...3,633,380
Ensembl chr 2:3,621,246...3,633,296
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G |
CCR4 |
C-C motif chemokine receptor 4 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17522861 |
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NCBI chr13:18,860,596...18,865,987
Ensembl chr13:18,860,730...18,865,983
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G |
CD40 |
CD40 molecule |
treatment |
ISO |
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RGD |
PMID:24878890 |
RGD:11352275 |
NCBI chr17:48,286,116...48,298,188
Ensembl chr17:48,286,029...48,298,528
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G |
CD80 |
CD80 molecule |
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ISO |
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RGD |
PMID:10078962 |
RGD:727266 |
NCBI chr13:140,693,312...140,730,541
Ensembl chr13:140,693,382...140,728,976
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G |
CDK4 |
cyclin dependent kinase 4 |
disease_progression |
ISO |
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RGD |
PMID:21844184 PMID:23761023 |
RGD:13702090 RGD:13702091 |
NCBI chr 5:23,039,206...23,041,959
Ensembl chr 5:23,038,891...23,042,061
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G |
CDK6 |
cyclin dependent kinase 6 |
severity |
ISO |
DNA:amplification: |
RGD |
PMID:9102208 PMID:22736304 |
RGD:13702093 RGD:13702094 |
NCBI chr 9:72,510,858...72,765,631
Ensembl chr 9:72,518,101...72,764,129
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G |
CDKN1A |
cyclin dependent kinase inhibitor 1A |
severity treatment |
ISO |
DNA:hypermethylation:promoter: |
RGD |
PMID:9144534 PMID:18791688 PMID:20844987 |
RGD:13702125 RGD:13702128 RGD:13702129 |
NCBI chr 7:32,354,776...32,363,771
Ensembl chr 7:32,354,672...32,363,761
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G |
CDKN2A |
cyclin dependent kinase inhibitor 2A |
disease_progression |
ISO |
CTD Direct Evidence: marker/mechanism DNA:deletions |
CTD RGD |
PMID:11314047 PMID:15814359 PMID:19578367 |
RGD:8552305 |
NCBI chr 1:200,774,496...200,799,149
Ensembl chr 1:200,792,469...200,798,854
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G |
CDKN2B |
cyclin dependent kinase inhibitor 2B |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19578366 PMID:19578367 |
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NCBI chr 1:200,666,250...200,770,880
Ensembl chr 1:200,761,004...200,766,056
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G |
CHAF1A |
chromatin assembly factor 1 subunit A |
susceptibility |
ISO |
DNA:SNP:intron:rs243356(human) |
RGD |
PMID:18048407 |
RGD:9587459 |
NCBI chr 2:74,380,706...74,411,875
Ensembl chr 2:74,380,709...74,411,825
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G |
CHAF1B |
chromatin assembly factor 1 subunit B |
disease_progression |
ISO |
protein:increased expression:brain: |
RGD |
PMID:24039914 |
RGD:9587472 |
NCBI chr13:200,048,096...200,074,902
Ensembl chr13:200,048,149...200,072,556
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G |
CHEK2 |
checkpoint kinase 2 |
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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:33471991 PMID:35534704 PMID:36222830 PMID:36623239 PMID:36744932 PMID:37055167 PMID:37149759 More...
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NCBI chr14:45,699,833...45,967,350
Ensembl chr14:45,929,715...45,967,290
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G |
CHI3L1 |
chitinase 3 like 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20506295 |
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NCBI chr 9:113,885,541...113,895,033
Ensembl chr 9:113,885,542...113,895,131
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G |
CLCN2 |
chloride voltage-gated channel 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:12843258 |
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NCBI chr13:122,234,731...122,249,889
Ensembl chr13:122,234,736...122,249,867
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G |
CLCN3 |
chloride voltage-gated channel 3 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:12843258 |
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NCBI chr14:20,037,628...20,127,160
Ensembl chr14:20,026,685...20,127,155
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G |
CLCN5 |
chloride voltage-gated channel 5 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:12843258 |
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NCBI chr X:43,779,016...43,809,472
Ensembl chr X:43,613,628...43,811,526
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G |
CNTN2 |
contactin 2 |
severity |
ISO |
mRNA, protein:increased expression:brain (human) |
RGD |
PMID:11280781 |
RGD:734799 |
NCBI chr 9:65,737,488...65,776,412
Ensembl chr 9:65,736,740...65,776,396
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G |
CPLANE1 |
ciliogenesis and planar polarity effector complex subunit 1 |
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ISO |
ClinVar Annotator: match by term: Astrocytoma |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr16:22,381,001...22,501,052
Ensembl chr16:22,380,326...22,500,998
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G |
CSF1 |
colony stimulating factor 1 |
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ISO |
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RGD |
PMID:15728459 |
RGD:2293641 |
NCBI chr 4:110,178,466...110,198,232
Ensembl chr 4:110,178,475...110,197,900
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G |
CTSB |
cathepsin B |
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ISO |
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RGD |
PMID:17287256 |
RGD:2315520 |
NCBI chr14:15,014,139...15,035,081
Ensembl chr14:15,011,711...15,033,877
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G |
CXCR3 |
C-X-C motif chemokine receptor 3 |
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ISO |
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RGD |
PMID:16434036 |
RGD:5135509 |
NCBI chr X:57,592,032...57,595,706
Ensembl chr X:57,592,038...57,595,692
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G |
CYP2E1 |
cytochrome P450 family 2 subfamily E member 1 |
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ISO |
DNA:snp:promoter:c.-1053C>T (human) |
RGD |
PMID:12540498 |
RGD:1358568 |
NCBI chr14:141,690,737...141,703,078
Ensembl chr14:141,690,426...141,736,817
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G |
DCN |
decorin |
disease_progression |
ISO |
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RGD |
PMID:15475879 |
RGD:2311425 |
NCBI chr 5:91,678,601...91,713,925
Ensembl chr 5:91,682,658...91,714,235
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G |
DCX |
doublecortin |
treatment disease_progression |
ISO |
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RGD |
PMID:17178868 PMID:19681167 PMID:21477071 |
RGD:12904748 RGD:12904754 RGD:12904761 |
NCBI chr X:91,317,671...91,644,572
Ensembl chr X:91,323,764...91,644,567
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G |
DDR1 |
discoidin domain receptor tyrosine kinase 1 |
severity |
ISO |
mRNA, protein:increased expression:brain (human) |
RGD |
PMID:16652150 |
RGD:151347531 |
NCBI chr 7:23,371,358...23,391,585
Ensembl chr 7:23,373,777...23,391,585
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G |
DEPDC5 |
DEP domain containing 5, GATOR1 subcomplex subunit |
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ISO |
ClinVar Annotator: match by term: Ependymoma |
ClinVar |
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NCBI chr14:48,421,788...48,523,530
Ensembl chr14:48,421,880...48,523,593
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G |
DICER1 |
dicer 1, ribonuclease III |
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ISO |
ClinVar Annotator: match by term: Pediatric high-grade glioma |
ClinVar |
PMID:25741868 PMID:26526666 PMID:28492532 PMID:29708584 |
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NCBI chr 7:116,361,630...116,436,471
Ensembl chr 7:116,365,802...116,411,224
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G |
DLK1 |
delta like non-canonical Notch ligand 1 |
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ISO |
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RGD |
PMID:16288219 |
RGD:1625600 |
NCBI chr 7:121,565,844...121,577,493
Ensembl chr 7:121,565,854...121,576,654
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G |
DLL4 |
delta like canonical Notch ligand 4 |
ameliorates |
ISO |
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RGD |
PMID:17183313 |
RGD:155791441 |
NCBI chr 1:130,376,720...130,386,411
Ensembl chr 1:130,376,721...130,386,411
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G |
DMXL1 |
Dmx like 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16865689 |
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NCBI chr 2:123,003,077...123,142,865
Ensembl chr 2:123,003,086...123,141,060
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G |
E2F1 |
E2F transcription factor 1 |
severity |
ISO |
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RGD |
PMID:28042322 |
RGD:13702468 |
NCBI chr17:37,178,587...37,190,118
Ensembl chr17:37,178,599...37,189,883
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G |
E2F3 |
E2F transcription factor 3 |
disease_progression |
ISO |
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RGD |
PMID:28337965 |
RGD:13702470 |
NCBI chr 7:15,793,519...15,870,213
Ensembl chr 7:15,794,178...15,870,204
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G |
EFEMP1 |
EGF containing fibulin extracellular matrix protein 1 |
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ISO |
protein:increased expression:brain: |
RGD |
PMID:19887559 |
RGD:10401656 |
NCBI chr 3:85,407,677...85,473,251
Ensembl chr 3:85,407,677...85,473,252
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G |
EFL1 |
elongation factor like GTPase 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25015090 |
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NCBI chr 7:50,839,725...50,977,024
Ensembl chr 7:50,839,725...50,977,024
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G |
EGF |
epidermal growth factor |
susceptibility |
ISO |
DNA:polymorphism:promoter:+61A>G(human) DNA:polymorphism:promoter:GG genotypes were associated with increased risk. |
RGD |
PMID:17473192 PMID:22106858 |
RGD:13702473 RGD:13702474 |
NCBI chr 8:112,235,607...112,330,062
Ensembl chr 8:112,234,386...112,330,046
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G |
EGFR |
epidermal growth factor receptor |
treatment |
ISO |
protein:alternative form:tumor (human) |
RGD |
PMID:7606735 PMID:10616092 |
RGD:38599219 RGD:5131512 |
NCBI chr 9:139,302,410...139,474,632
Ensembl chr 9:139,300,022...139,475,589
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G |
EHD1 |
EH domain containing 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:35616188 |
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NCBI chr 2:7,299,295...7,321,580
Ensembl chr 2:7,298,208...7,321,576
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G |
ENTPD2 |
ectonucleoside triphosphate diphosphohydrolase 2 |
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ISO |
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RGD |
PMID:19558578 |
RGD:9685528 |
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G |
EPHA5 |
EPH receptor A5 |
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ISO |
ClinVar Annotator: match by term: Astrocytoma |
ClinVar |
PMID:25741868 |
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NCBI chr 8:63,285,006...63,604,734
Ensembl chr 8:63,287,711...63,604,734
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G |
EPO |
erythropoietin |
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ISO |
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RGD |
PMID:21749867 |
RGD:10400910 |
NCBI chr 3:8,620,508...8,622,936
Ensembl chr 3:8,620,508...8,622,936
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G |
EPOR |
erythropoietin receptor |
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ISO |
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RGD |
PMID:21749867 |
RGD:10400910 |
NCBI chr 2:70,063,601...70,068,821
Ensembl chr 2:70,063,519...70,068,821
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G |
ERBB2 |
erb-b2 receptor tyrosine kinase 2 |
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ISO |
ClinVar Annotator: match by term: Glioma susceptibility 1 | ClinVar Annotator: match by term: Glioma susceptibility 3 | ClinVar Annotator: match by term: Glioma susceptibility 9 |
OMIM ClinVar |
PMID:15457249 PMID:24728327 PMID:25741868 PMID:26094658 PMID:28492532 PMID:31115453 PMID:32366937 More...
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NCBI chr12:22,591,621...22,621,384
Ensembl chr12:22,590,725...22,621,351
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G |
ERCC1 |
ERCC excision repair 1, endonuclease non-catalytic subunit |
susceptibility |
ISO |
DNA:snp:3'utr:c.8092C>A (human) (rs3212986) |
RGD |
PMID:25867436 |
RGD:13207318 |
NCBI chr 6:51,783,537...51,808,898
Ensembl chr 6:51,783,478...51,798,984
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G |
ERCC2 |
ERCC excision repair 2, TFIIH core complex helicase subunit |
susceptibility |
ISO |
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RGD |
PMID:11319176 |
RGD:10401082 |
NCBI chr 6:51,734,318...51,757,508
Ensembl chr 6:51,734,320...51,757,553
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G |
ERCC5 |
ERCC excision repair 5, endonuclease |
susceptibility |
ISO |
DNA:SNP:cd: p.D1558H (rs17655) (human) |
RGD |
PMID:23534771 |
RGD:401850601 |
NCBI chr11:71,141,823...71,168,326
Ensembl chr11:71,141,842...71,168,322
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G |
F2 |
coagulation factor II, thrombin |
treatment |
ISO |
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RGD |
PMID:15975137 |
RGD:1578509 |
NCBI chr 2:15,793,257...15,819,151
Ensembl chr 2:15,791,455...15,819,137
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G |
FAM107A |
family with sequence similarity 107 member A |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16865689 |
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NCBI chr13:40,276,896...40,369,708
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G |
FANCA |
FA complementation group A |
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ISO |
ClinVar Annotator: match by term: Pediatric high-grade glioma |
ClinVar |
PMID:25741868 |
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NCBI chr 6:253,207...300,159
Ensembl chr 6:253,207...300,152
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G |
FANCB |
FA complementation group B |
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ISO |
ClinVar Annotator: match by term: Glioma susceptibility 1 |
ClinVar |
PMID:15502827 PMID:16199547 PMID:23613520 PMID:25741868 PMID:28492532 |
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NCBI chr X:11,386,360...11,408,958
Ensembl chr X:11,384,912...11,409,057
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G |
FAS |
Fas cell surface death receptor |
severity |
ISO |
mouse gene in a rat model |
RGD |
PMID:11440439 |
RGD:8663460 |
NCBI chr14:100,927,305...100,954,781
Ensembl chr14:100,927,089...100,956,716
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G |
FBXW7 |
F-box and WD repeat domain containing 7 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18931460 |
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NCBI chr 8:76,482,027...76,699,354
Ensembl chr 8:76,482,844...76,699,348
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G |
FGF2 |
fibroblast growth factor 2 |
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ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:10673511 |
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NCBI chr 8:101,278,877...101,344,084
Ensembl chr 8:101,278,885...101,343,916
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G |
FGFR1 |
fibroblast growth factor receptor 1 |
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ISO |
ClinVar Annotator: match by term: Astrocytoma |
ClinVar |
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NCBI chr15:48,053,895...48,106,634
Ensembl chr15:48,053,340...48,106,724
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G |
FTH1 |
ferritin heavy chain 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21385903 |
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NCBI chr 2:9,535,051...9,537,979
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G |
GDNF |
glial cell derived neurotrophic factor |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19138852 |
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NCBI chr16:22,936,602...22,965,929
Ensembl chr16:22,936,604...22,966,536
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G |
GJA1 |
gap junction protein alpha 1 |
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ISO |
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RGD |
PMID:22808518 |
RGD:7207264 |
NCBI chr 1:40,988,818...41,002,129
Ensembl chr 1:40,988,528...41,002,156
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G |
GLB1 |
galactosidase beta 1 |
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ISO |
ClinVar Annotator: match by term: Ependymoma |
ClinVar |
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NCBI chr13:18,878,407...18,978,999
Ensembl chr13:18,878,612...18,953,146
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G |
GON4L |
gon-4 like |
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ISO |
ClinVar Annotator: match by term: Ependymoma |
ClinVar |
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NCBI chr 4:94,161,887...94,248,785
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G |
GSTM3 |
glutathione S-transferase mu 3 |
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ISO |
DNA: deletion: intron 6 |
RGD |
PMID:16598069 |
RGD:5688743 |
NCBI chr 4:110,330,027...110,332,957
Ensembl chr 4:110,330,028...110,332,962
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G |
H3-3A |
H3.3 histone A |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22286216 PMID:23583981 |
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NCBI chr10:13,939,938...13,947,976
Ensembl chr10:13,923,077...13,948,484
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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 chr 2:143,273,188...143,287,421
Ensembl chr 2:143,273,192...143,287,399
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G |
HELLS |
helicase, lymphoid specific |
severity |
ISO |
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RGD |
PMID:28042322 |
RGD:13702468 |
NCBI chr14:105,923,727...105,967,003
Ensembl chr14:105,924,536...105,955,430
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G |
HGF |
hepatocyte growth factor |
disease_progression |
ISO |
protein:increased expression:brain: |
RGD |
PMID:12115353 |
RGD:8548633 |
NCBI chr 9:98,437,771...98,513,573
Ensembl chr 9:98,438,143...98,513,564
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G |
HMGB1 |
high mobility group box 1 |
treatment |
ISO |
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RGD |
PMID:10830965 |
RGD:10402059 |
NCBI chr11:7,195,556...7,321,071
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G |
HMGN5 |
high mobility group nucleosome binding domain 5 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22109888 |
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NCBI chr X:64,541,310...64,617,345
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G |
HOXD11 |
homeobox D11 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:33614284 |
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NCBI chr15:81,906,654...81,910,765
Ensembl chr15:81,908,460...81,911,282
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G |
HRAS |
HRas proto-oncogene, GTPase |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD MouseDO |
PMID:30619488 |
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NCBI chr 2:299,662...302,539
Ensembl chr 2:299,660...302,501
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G |
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