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G |
ACVR1 |
activin A receptor type 1 |
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IAGP EXP |
ClinVar Annotator: match by term: Brainstem glioma CTD Direct Evidence: marker/mechanism |
ClinVar CTD |
PMID:818090 PMID:7068725 PMID:19085907 PMID:19330033 PMID:22977237 PMID:24705250 PMID:24705251 PMID:24705252 PMID:24705254 PMID:25326637 PMID:25741868 PMID:26619011 PMID:31779674 More...
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NCBI chr 2:157,736,446...157,876,330
Ensembl chr 2:157,736,251...157,876,330
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G |
ADGRA2 |
adhesion G protein-coupled receptor A2 |
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IAGP |
ClinVar Annotator: match by term: Ependymoma |
ClinVar |
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NCBI chr 8:37,796,883...37,844,896
Ensembl chr 8:37,784,191...37,844,896
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G |
AKT2 |
AKT serine/threonine kinase 2 |
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IEP ISO |
protein:increased expression:cytoplasm (human) |
RGD |
PMID:19330838 PMID:19330838 |
RGD:2313297, RGD:2313297 |
NCBI chr19:40,230,317...40,285,345
Ensembl chr19:40,230,317...40,285,536
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G |
AMOTL1 |
angiomotin like 1 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:34480788 |
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NCBI chr11:94,706,460...94,876,748
Ensembl chr11:94,706,431...94,876,748
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G |
ANGPT1 |
angiopoietin 1 |
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TAS |
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RGD |
PMID:16389943 |
RGD:1578345 |
NCBI chr 8:107,249,482...107,497,918
Ensembl chr 8:107,249,482...107,498,055
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G |
ANGPT2 |
angiopoietin 2 |
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ISO |
protein:increased expression:brain (rat) |
RGD |
PMID:18615861 |
RGD:2314189 |
NCBI chr 8:6,499,632...6,563,245
Ensembl chr 8:6,499,632...6,563,409
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G |
APOD |
apolipoprotein D |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16865689 |
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NCBI chr 3:195,568,705...195,583,940
Ensembl chr 3:195,568,705...195,584,033
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G |
ARAF |
A-Raf proto-oncogene, serine/threonine kinase |
disease_progression |
IEP |
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RGD |
PMID:27852048 |
RGD:13702476 |
NCBI chr X:47,561,205...47,571,908
Ensembl chr X:47,561,205...47,571,908
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G |
AREG |
amphiregulin |
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ISO |
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RGD |
PMID:8621257 |
RGD:2292668 |
NCBI chr 4:74,445,136...74,455,005
Ensembl chr 4:74,445,136...74,455,005
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G |
ARHGAP32 |
Rho GTPase activating protein 32 |
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IAGP |
ClinVar Annotator: match by term: Ependymoma |
ClinVar |
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NCBI chr11:128,965,060...129,279,632
Ensembl chr11:128,965,060...129,279,324
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G |
ARID1B |
AT-rich interaction domain 1B |
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IAGP |
ClinVar Annotator: match by term: Astrocytoma |
ClinVar |
PMID:25741868 |
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NCBI chr 6:156,776,026...157,210,779
Ensembl chr 6:156,776,020...157,210,779
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G |
ARL2 |
ADP ribosylation factor like GTPase 2 |
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IAGP |
ClinVar Annotator: match by term: Ependymoma |
ClinVar |
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NCBI chr11:65,014,160...65,022,184
Ensembl chr11:65,014,160...65,022,184
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G |
ASPM |
assembly factor for spindle microtubules |
disease_progression |
IEP |
mRNA:increased expression:brain: |
RGD |
PMID:20142996 |
RGD:13442488 |
NCBI chr 1:197,084,127...197,146,669
Ensembl chr 1:197,084,121...197,146,694
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G |
ATF5 |
activating transcription factor 5 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28861715 |
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NCBI chr19:49,928,906...49,933,935
Ensembl chr19:49,928,702...49,933,935
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G |
ATG2A |
autophagy related 2A |
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IAGP |
ClinVar Annotator: match by term: Ependymoma |
ClinVar |
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NCBI chr11:64,894,546...64,917,209
Ensembl chr11:64,894,546...64,917,209
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G |
ATG7 |
autophagy related 7 |
treatment |
ISO |
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RGD |
PMID:25542083 |
RGD:11557994 |
NCBI chr 3:11,272,397...11,576,353
Ensembl chr 3:11,272,309...11,557,665
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G |
ATM |
ATM serine/threonine kinase |
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IAGP |
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 chr11:108,223,067...108,369,102
Ensembl chr11:108,222,823...108,369,102
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G |
ATP1B2 |
ATPase Na+/K+ transporting subunit beta 2 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16865689 |
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NCBI chr17:7,646,627...7,657,770
Ensembl chr17:7,646,627...7,657,770
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G |
ATRX |
ATRX chromatin remodeler |
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IAGP EXP |
DNA:mutations: :multiple CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:23583981 PMID:24705251 PMID:23104868 |
RGD:11040587 |
NCBI chr X:77,504,880...77,786,216
Ensembl chr X:77,504,880...77,786,233
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G |
BAD |
BCL2 associated agonist of cell death |
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ISO IAGP |
protein:increased phosphorylation:brain (rat) ClinVar Annotator: match by term: Brainstem glioma |
ClinVar RGD |
PMID:16944316 |
RGD:2292675 |
NCBI chr11:64,269,828...64,284,704
Ensembl chr11:64,269,830...64,284,704
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G |
BANP |
BTG3 associated nuclear protein |
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IAGP |
ClinVar Annotator: match by term: Ependymoma |
ClinVar |
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NCBI chr16:87,949,238...88,077,318
Ensembl chr16:87,949,244...88,077,318
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G |
BAP1 |
BRCA1 associated protein 1 |
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IAGP |
ClinVar Annotator: match by term: Astrocytoma |
ClinVar |
PMID:25741868 |
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NCBI chr 3:52,401,008...52,410,008
Ensembl chr 3:52,401,008...52,410,008
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G |
BARHL1 |
BarH like homeobox 1 |
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IEP |
protein:increased expression:brain: |
RGD |
PMID:28956815 |
RGD:14390165 |
NCBI chr 9:132,582,606...132,590,252
Ensembl chr 9:132,582,606...132,590,252
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G |
BATF2 |
basic leucine zipper ATF-like transcription factor 2 |
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IAGP |
ClinVar Annotator: match by term: Ependymoma |
ClinVar |
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NCBI chr11:64,987,945...64,996,971
Ensembl chr11:64,987,945...64,997,018
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G |
BCAN |
brevican |
severity |
ISO IEP |
protein:increased expression:brain: |
RGD |
PMID:12799382 PMID:23253190 PMID:16061654 PMID:11585735 |
RGD:14392782, RGD:14392804, RGD:14392797, RGD:14392783 |
NCBI chr 1:156,642,117...156,659,528
Ensembl chr 1:156,641,390...156,659,532
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G |
BDKRB2 |
bradykinin receptor B2 |
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ISO |
mRNA:increased expression:brain |
RGD |
PMID:20080302 |
RGD:4891047 |
NCBI chr14:96,204,839...96,244,164
Ensembl chr14:96,204,679...96,244,166
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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 chr17:78,214,253...78,225,635
Ensembl chr17:78,214,186...78,225,636
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G |
BMI1 |
BMI1 proto-oncogene, polycomb ring finger |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23383216 |
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NCBI chr10:22,321,099...22,331,484
Ensembl chr10:22,321,099...22,331,484
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G |
BRAF |
B-Raf proto-oncogene, serine/threonine kinase |
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EXP IAGP |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Brainstem glioma |
CTD ClinVar |
PMID:12068308 PMID:12198537 PMID:12447372 PMID:12460918 PMID:12460919 PMID:12619120 PMID:12644542 PMID:12670889 PMID:12794760 PMID:12960123 PMID:14513361 PMID:14602780 PMID:14679157 PMID:15001635 PMID:15035987 PMID:15126572 PMID:15181070 PMID:15342696 PMID:15356022 PMID:15386408 PMID:15687339 PMID:15998781 PMID:16015629 PMID:16174717 PMID:16187918 PMID:16772349 PMID:17374713 PMID:17488796 PMID:17785355 PMID:18398503 PMID:19001320 PMID:19010912 PMID:19018267 PMID:19238210 PMID:19404918 PMID:19537845 PMID:19561230 PMID:19571295 PMID:20008640 PMID:20350999 PMID:20413299 PMID:20619739 PMID:20630094 PMID:20818844 PMID:20823850 PMID:20857202 PMID:21107320 PMID:21107323 PMID:21129611 PMID:21156289 PMID:21163703 PMID:21426297 PMID:21483012 PMID:21502544 PMID:21639808 PMID:21641636 PMID:21683865 PMID:21975775 PMID:22038996 PMID:22039425 PMID:22048237 PMID:22113612 PMID:22180495 PMID:22281684 PMID:22351686 PMID:22356324 PMID:22389471 PMID:22448344 PMID:22536370 PMID:22586120 PMID:22608338 PMID:22649091 PMID:22663011 PMID:22735384 PMID:22743296 PMID:22773810 PMID:22805292 PMID:22972589 PMID:22997239 PMID:23020132 PMID:23031422 PMID:23251002 PMID:23302800 PMID:23325582 PMID:23470635 PMID:23524406 PMID:23549875 PMID:23583981 PMID:23614898 PMID:23685455 PMID:23812671 PMID:23833300 PMID:23845441 PMID:23918947 PMID:24107445 PMID:24112392 PMID:24163374 PMID:24388723 PMID:24508103 PMID:24512911 PMID:24576830 PMID:24583796 PMID:24586605 PMID:24594804 PMID:24670642 PMID:24717435 PMID:25024077 PMID:25037139 PMID:25079330 PMID:25157968 PMID:25265492 PMID:25265494 PMID:25370471 PMID:25399551 PMID:25741868 PMID:25950823 PMID:25989278 PMID:26619011 PMID:26678033 PMID:27404270 PMID:27480103 PMID:28854169 PMID:28891408 PMID:29925953 PMID:31779674 PMID:31891627 PMID:34476331 More...
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NCBI chr 7:140,713,328...140,924,929
Ensembl chr 7:140,719,327...140,924,929
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G |
BRCA2 |
BRCA2 DNA repair associated |
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IAGP EXP |
ClinVar Annotator: match by term: Glioma susceptibility 3 CTD Direct Evidence: marker/mechanism |
ClinVar OMIM CTD |
PMID:251866 PMID:278235 PMID:2200631 PMID:8589730 PMID:8673090 PMID:9150172 PMID:9150174 PMID:9667259 PMID:9792861 PMID:10644434 PMID:10660329 PMID:10790213 PMID:10978364 PMID:11149425 PMID:11179017 PMID:11307153 PMID:11389159 PMID:11400546 PMID:11597388 PMID:11802209 PMID:11843247 PMID:11857748 PMID:12065746 PMID:12373604 PMID:12655567 PMID:12845657 PMID:12955716 PMID:14559878 PMID:14647210 PMID:14670928 PMID:15024741 PMID:15070707 PMID:15131399 PMID:15168169 PMID:15340362 PMID:15382066 PMID:15689453 PMID:15800311 PMID:16030099 PMID:16168118 PMID:16168123 PMID:16199547 PMID:16284991 PMID:16389418 PMID:16455195 PMID:16683254 PMID:16758124 PMID:16825431 PMID:16905680 PMID:16912212 PMID:16920162 PMID:17063270 PMID:17148771 PMID:17301269 PMID:17513806 PMID:17574839 PMID:17688236 PMID:17925560 PMID:17972171 PMID:18042939 PMID:18393245 PMID:18446624 PMID:18465347 PMID:18489799 PMID:18703817 PMID:18704680 PMID:19016756 PMID:19241424 PMID:19491284 PMID:19620486 PMID:19654294 PMID:19656164 PMID:19863560 PMID:19941162 PMID:19941167 PMID:19949876 PMID:19967274 PMID:20033483 PMID:20104584 PMID:20167696 PMID:20373018 PMID:20616022 PMID:20694749 PMID:20736950 PMID:20858050 PMID:21120943 PMID:21205087 PMID:21324516 PMID:21520273 PMID:21643751 PMID:21702907 PMID:21709188 PMID:21913181 PMID:21918853 PMID:21952622 PMID:22006311 PMID:22009639 PMID:22085629 PMID:22144684 PMID:22217648 PMID:22426013 PMID:22505045 PMID:22535016 PMID:22632462 PMID:22666503 PMID:22752604 PMID:22762150 PMID:22798144 PMID:22923021 PMID:23096105 PMID:23199084 PMID:23233716 PMID:23318356 PMID:23415752 PMID:23469205 PMID:23479189 PMID:23569316 PMID:23613520 PMID:23621881 PMID:23725378 PMID:23767878 PMID:23942203 PMID:24033266 PMID:24055113 PMID:24123850 PMID:24141157 PMID:24156927 PMID:24301060 PMID:24312913 PMID:24504028 PMID:24528374 PMID:24556621 PMID:24607278 PMID:24728189 PMID:24814045 PMID:24830819 PMID:24884479 PMID:24916970 PMID:25066507 PMID:25085752 PMID:25136594 PMID:25186627 PMID:25236687 PMID:25330149 PMID:25348012 PMID:25382762 PMID:25428789 PMID:25452441 PMID:25525159 PMID:25637381 PMID:25682074 PMID:25737278 PMID:25741868 PMID:25802882 PMID:25863477 PMID:25884701 PMID:25927356 PMID:26026974 PMID:26064523 PMID:26187060 PMID:26219728 PMID:26287763 PMID:26295337 PMID:26360800 PMID:26425718 PMID:26439132 PMID:26467025 PMID:26541979 PMID:26580448 PMID:26657402 PMID:26681312 PMID:26687385 PMID:26689913 PMID:26786923 PMID:26834852 PMID:26845104 PMID:27153395 PMID:27165126 PMID:27257965 PMID:27376475 PMID:27425403 PMID:27433846 PMID:27469594 PMID:27553368 PMID:27732944 PMID:27741520 PMID:27767231 PMID:27831900 PMID:27836010 PMID:28008555 PMID:28039656 PMID:28111427 PMID:28176296 PMID:28243543 PMID:28281021 PMID:28294317 PMID:28324225 PMID:28423363 PMID:28477318 PMID:28492532 PMID:28503720 PMID:28541631 PMID:28616458 PMID:28657667 PMID:28715532 PMID:28724667 PMID:28726808 PMID:28831036 PMID:28915716 PMID:28918466 PMID:28973083 PMID:28993434 PMID:29061375 PMID:29084914 PMID:29088781 PMID:29161300 PMID:29176636 PMID:29321669 PMID:29339979 PMID:29348823 PMID:29360161 PMID:29371908 PMID:29446198 PMID:29478780 PMID:29483665 PMID:29489754 PMID:29492181 PMID:29506128 PMID:29625052 PMID:29752822 PMID:29753700 PMID:29790872 PMID:29907814 PMID:29909963 PMID:29915322 PMID:30078507 PMID:30093976 PMID:30122538 PMID:30128899 PMID:30199306 PMID:30274973 PMID:30287823 PMID:30309722 PMID:30322717 PMID:30350268 PMID:30548481 PMID:30606148 PMID:30612635 PMID:30630528 PMID:30696104 PMID:30702160 PMID:30720243 PMID:30720863 PMID:30787465 PMID:30875412 PMID:30972954 PMID:31112363 PMID:31131967 PMID:31174498 PMID:31209999 PMID:31214711 PMID:31263054 PMID:31263571 PMID:31331294 PMID:31360904 PMID:31396961 PMID:31411802 PMID:31447099 PMID:31451522 PMID:31589614 PMID:31721781 PMID:31742824 PMID:31825140 PMID:31837001 PMID:31911673 PMID:31948886 PMID:31957001 PMID:31980526 PMID:32029870 PMID:32098980 PMID:32101877 PMID:32164353 PMID:32190957 PMID:32295079 PMID:32300229 PMID:32318955 PMID:32338768 PMID:32341426 PMID:32354836 PMID:32426482 PMID:32438681 PMID:32467295 PMID:32521533 PMID:32581362 PMID:32710294 PMID:32719484 PMID:32720237 PMID:32772980 PMID:32846166 PMID:32853339 PMID:32875559 PMID:32885271 PMID:33008098 PMID:33087929 PMID:33113089 PMID:33309985 PMID:33372952 PMID:33461583 PMID:33471991 PMID:33478551 PMID:33608381 PMID:33773534 PMID:33918338 PMID:34008015 PMID:34196900 PMID:34399810 PMID:34413315 PMID:34567246 PMID:34657373 PMID:35220195 PMID:35264596 PMID:35353237 PMID:35535697 PMID:35753294 PMID:36329109 PMID:36988593 More...
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NCBI chr13:32,315,508...32,400,268
Ensembl chr13:32,315,086...32,400,268
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G |
BRD7 |
bromodomain containing 7 |
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IEP |
protein:increased expression:brain: |
RGD |
PMID:24404152 |
RGD:9586441 |
NCBI chr16:50,315,957...50,368,988
Ensembl chr16:50,313,487...50,368,988
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G |
C11orf65 |
chromosome 11 open reading frame 65 |
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IAGP |
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 chr11:108,308,519...108,469,881
Ensembl chr11:108,308,519...108,467,531
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G |
C3 |
complement C3 |
treatment |
ISO |
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RGD |
PMID:21678475 |
RGD:7401275 |
NCBI chr19:6,677,704...6,720,650
Ensembl chr19:6,677,704...6,730,562
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G |
CACNG2 |
calcium voltage-gated channel auxiliary subunit gamma 2 |
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IAGP |
ClinVar Annotator: match by term: Ependymoma |
ClinVar |
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NCBI chr22:36,560,857...36,703,752
Ensembl chr22:36,560,857...36,703,752
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G |
CAMK2A |
calcium/calmodulin dependent protein kinase II alpha |
disease_progression |
IEP |
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RGD |
PMID:29393370 |
RGD:13702478 |
NCBI chr 5:150,219,491...150,290,130
Ensembl chr 5:150,219,491...150,290,093
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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 chr 7:44,217,154...44,326,013
Ensembl chr 7:44,210,019...44,334,577
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G |
CAMKK2 |
calcium/calmodulin dependent protein kinase kinase 2 |
disease_progression |
IEP |
|
RGD |
PMID:27012733 |
RGD:13674178 |
NCBI chr12:121,237,692...121,297,819
Ensembl chr12:121,237,675...121,298,308
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G |
CAPN1 |
calpain 1 |
|
IAGP |
ClinVar Annotator: match by term: Brainstem glioma |
ClinVar |
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NCBI chr11:65,181,373...65,212,006
Ensembl chr11:65,180,566...65,212,006
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G |
CAT |
catalase |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21138464 |
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NCBI chr11:34,438,934...34,472,060
Ensembl chr11:34,438,934...34,472,060
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G |
CATSPERZ |
catsper channel auxiliary subunit zeta |
|
IAGP |
ClinVar Annotator: match by term: Ependymoma |
ClinVar |
|
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NCBI chr11:64,300,358...64,304,770
Ensembl chr11:64,300,358...64,304,770
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G |
CAV1 |
caveolin 1 |
|
ISO |
|
RGD |
PMID:22528460 |
RGD:6784517 |
NCBI chr 7:116,525,009...116,561,185
Ensembl chr 7:116,524,994...116,561,179
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G |
CAV2 |
caveolin 2 |
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ISO |
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RGD |
PMID:22528460 |
RGD:6784517 |
NCBI chr 7:116,499,738...116,508,541
Ensembl chr 7:116,287,380...116,508,541
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G |
CCDC26 |
CCDC26 long non-coding RNA |
susceptibility |
EXP IAGP |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Glioma susceptibility 7 |
CTD ClinVar OMIM |
PMID:19578367 PMID:36201590 |
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NCBI chr 8:129,351,694...129,680,239
Ensembl chr 8:128,634,199...129,683,770
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G |
CCDC88B |
coiled-coil domain containing 88B |
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IAGP |
ClinVar Annotator: match by term: Ependymoma |
ClinVar |
|
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NCBI chr11:64,340,204...64,357,534
Ensembl chr11:64,340,204...64,357,534
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G |
CCN1 |
cellular communication network factor 1 |
exacerbates |
IMP |
human cells in mouse model |
RGD |
PMID:15026334 |
RGD:329845555 |
NCBI chr 1:85,580,761...85,583,950
Ensembl chr 1:85,580,761...85,584,589
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G |
CCND1 |
cyclin D1 |
susceptibility disease_progression |
IAGP ISO IEP |
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RGD |
PMID:22304571 PMID:21844184 PMID:21844184 |
RGD:13681930, RGD:13702091, RGD:13702091 |
NCBI chr11:69,641,156...69,654,474
Ensembl chr11:69,641,156...69,654,474
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G |
CCR4 |
C-C motif chemokine receptor 4 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17522861 |
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NCBI chr 3:32,951,644...32,956,349
Ensembl chr 3:32,951,644...32,956,349
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G |
CD40 |
CD40 molecule |
treatment |
ISO |
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RGD |
PMID:24878890 |
RGD:11352275 |
NCBI chr20:46,118,314...46,129,858
Ensembl chr20:46,118,271...46,129,863
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G |
CD80 |
CD80 molecule |
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ISO |
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RGD |
PMID:10078962 |
RGD:727266 |
NCBI chr 3:119,524,293...119,559,614
Ensembl chr 3:119,524,293...119,559,614
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G |
CDC42BPG |
CDC42 binding protein kinase gamma |
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IAGP |
ClinVar Annotator: match by term: Ependymoma |
ClinVar |
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NCBI chr11:64,823,052...64,844,653
Ensembl chr11:64,823,052...64,844,653
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G |
CDC42EP2 |
CDC42 effector protein 2 |
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IAGP |
ClinVar Annotator: match by term: Ependymoma |
ClinVar |
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NCBI chr11:65,314,866...65,322,417
Ensembl chr11:65,314,866...65,322,417
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G |
CDCA5 |
cell division cycle associated 5 |
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IAGP |
ClinVar Annotator: match by term: Ependymoma |
ClinVar |
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NCBI chr11:65,061,093...65,084,040
Ensembl chr11:65,066,300...65,084,164
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G |
CDK4 |
cyclin dependent kinase 4 |
disease_progression |
IEP ISO |
|
RGD |
PMID:23761023 PMID:21844184 |
RGD:13702090, RGD:13702091 |
NCBI chr12:57,747,727...57,752,310
Ensembl chr12:57,747,727...57,756,013
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G |
CDK6 |
cyclin dependent kinase 6 |
severity |
IEP IAGP |
DNA:amplification: |
RGD |
PMID:22736304 PMID:9102208 |
RGD:13702093, RGD:13702094 |
NCBI chr 7:92,604,921...92,836,573
Ensembl chr 7:92,604,921...92,836,573
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G |
CDKN1A |
cyclin dependent kinase inhibitor 1A |
severity treatment |
IDA IMP IEP |
DNA:hypermethylation:promoter: |
RGD |
PMID:20844987 PMID:9144534 PMID:18791688 |
RGD:13702125, RGD:13702129, RGD:13702128 |
NCBI chr 6:36,676,463...36,687,332
Ensembl chr 6:36,676,460...36,687,337
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G |
CDKN2A |
cyclin dependent kinase inhibitor 2A |
disease_progression |
IAGP EXP |
DNA:deletions CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:15814359 PMID:19578367 PMID:11314047 |
RGD:8552305 |
NCBI chr 9:21,967,752...21,995,324
Ensembl chr 9:21,967,752...21,995,301
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G |
CDKN2B |
cyclin dependent kinase inhibitor 2B |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19578366 PMID:19578367 |
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NCBI chr 9:22,002,903...22,009,313
Ensembl chr 9:22,002,903...22,009,305
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G |
CHAF1A |
chromatin assembly factor 1 subunit A |
susceptibility |
IAGP |
DNA:SNP:intron:rs243356(human) |
RGD |
PMID:18048407 |
RGD:9587459 |
NCBI chr19:4,402,640...4,450,830
Ensembl chr19:4,402,640...4,445,018
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G |
CHAF1B |
chromatin assembly factor 1 subunit B |
disease_progression |
IEP |
protein:increased expression:brain: |
RGD |
PMID:24039914 |
RGD:9587472 |
NCBI chr21:36,385,392...36,419,015
Ensembl chr21:36,385,392...36,419,015
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G |
CHEK2 |
checkpoint kinase 2 |
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IAGP |
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: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:23329222 PMID:23415889 PMID:23469205 PMID:23652375 PMID:23946381 PMID:24033266 PMID:24713400 PMID:24723567 PMID:24884479 PMID:25431674 PMID:25583358 PMID:25741868 PMID:26084796 PMID:26332814 PMID:26467025 PMID:26641009 PMID:26681312 PMID:26822237 PMID:26845104 PMID:26884562 PMID:26976419 PMID:27083775 PMID:27153395 PMID:27223485 PMID:27269948 PMID:27433846 PMID:27711073 PMID:27751358 PMID:27798748 PMID:28125075 PMID:28135145 PMID:28195393 PMID:28492532 PMID:28503720 PMID:28514723 PMID:28727877 PMID:28734145 PMID:28779002 PMID:28802053 PMID:28874143 PMID:29146883 PMID:29351919 PMID:29489754 PMID:29522266 PMID:29909568 PMID:31300551 PMID:31993860 PMID:32119081 PMID:32285038 PMID:32295079 PMID:32383162 PMID:32531112 PMID:32805687 PMID:36222830 PMID:37055167 PMID:37149759 More...
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NCBI chr22:28,687,743...28,741,834
Ensembl chr22:28,687,743...28,742,422
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G |
CHI3L1 |
chitinase 3 like 1 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20506295 |
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NCBI chr 1:203,178,931...203,186,704
Ensembl chr 1:203,178,931...203,186,704
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G |
CLCN2 |
chloride voltage-gated channel 2 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:12843258 |
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NCBI chr 3:184,346,185...184,361,605
Ensembl chr 3:184,346,185...184,361,650
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G |
CLCN3 |
chloride voltage-gated channel 3 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:12843258 |
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NCBI chr 4:169,620,578...169,723,673
Ensembl chr 4:169,612,633...169,723,673
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G |
CLCN5 |
chloride voltage-gated channel 5 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:12843258 |
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NCBI chr X:49,922,596...50,099,230
Ensembl chr X:49,922,596...50,099,235
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G |
CNTN2 |
contactin 2 |
severity |
IEP |
mRNA, protein:increased expression:brain (human) |
RGD |
PMID:11280781 |
RGD:734799 |
NCBI chr 1:205,042,949...205,078,289
Ensembl chr 1:205,042,937...205,078,289
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G |
COX8A |
cytochrome c oxidase subunit 8A |
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IAGP |
ClinVar Annotator: match by term: Ependymoma |
ClinVar |
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NCBI chr11:63,974,620...63,976,543
Ensembl chr11:63,974,620...63,976,543
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G |
CPLANE1 |
ciliogenesis and planar polarity effector complex subunit 1 |
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IAGP |
ClinVar Annotator: match by term: Astrocytoma |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 5:37,075,669...37,249,376
Ensembl chr 5:37,106,228...37,249,376
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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 1:109,910,506...109,930,992
Ensembl chr 1:109,910,242...109,930,992
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G |
CTSB |
cathepsin B |
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ISO |
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RGD |
PMID:17287256 |
RGD:2315520 |
NCBI chr 8:11,842,524...11,868,087
Ensembl chr 8:11,842,524...11,869,533
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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:71,615,919...71,618,511
Ensembl chr X:71,615,916...71,618,511
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G |
CYP2E1 |
cytochrome P450 family 2 subfamily E member 1 |
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IAGP |
DNA:snp:promoter:c.-1053C>T (human) |
RGD |
PMID:12540498 |
RGD:1358568 |
NCBI chr10:133,527,363...133,539,123
Ensembl chr10:133,520,406...133,561,220
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G |
DCN |
decorin |
disease_progression |
IMP |
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RGD |
PMID:15475879 |
RGD:2311425 |
NCBI chr12:91,140,484...91,182,817
Ensembl chr12:91,140,484...91,183,217
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G |
DCX |
doublecortin |
disease_progression treatment |
ISO IEP |
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RGD |
PMID:17178868 PMID:21477071 PMID:19681167 |
RGD:12904748, RGD:12904761, RGD:12904754 |
NCBI chr X:111,293,779...111,412,192
Ensembl chr X:111,293,779...111,412,429
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G |
DDR1 |
discoidin domain receptor tyrosine kinase 1 |
severity |
IEP |
mRNA, protein:increased expression:brain (human) |
RGD |
PMID:16652150 |
RGD:151347531 |
NCBI chr 6:30,880,970...30,900,156
Ensembl chr 6:30,876,421...30,900,156
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G |
DEPDC5 |
DEP domain containing 5, GATOR1 subcomplex subunit |
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IAGP |
ClinVar Annotator: match by term: Ependymoma |
ClinVar |
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NCBI chr22:31,753,968...31,908,033
Ensembl chr22:31,753,867...31,908,033
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G |
DLK1 |
delta like non-canonical Notch ligand 1 |
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IEP |
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RGD |
PMID:16288219 |
RGD:1625600 |
NCBI chr14:100,726,892...100,738,224
Ensembl chr14:100,725,705...100,738,224
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G |
DLL4 |
delta like canonical Notch ligand 4 |
ameliorates |
ISO |
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RGD |
PMID:17183313 |
RGD:155791441 |
NCBI chr15:40,929,340...40,939,073
Ensembl chr15:40,929,340...40,939,073
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G |
DMXL1 |
Dmx like 1 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16865689 |
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NCBI chr 5:119,071,027...119,249,127
Ensembl chr 5:119,037,772...119,249,138
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G |
DNAJC4 |
DnaJ heat shock protein family (Hsp40) member C4 |
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IAGP |
ClinVar Annotator: match by term: Ependymoma |
ClinVar |
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NCBI chr11:64,230,432...64,234,281
Ensembl chr11:64,230,278...64,234,286
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G |
DPF2 |
double PHD fingers 2 |
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IAGP |
ClinVar Annotator: match by term: Ependymoma |
ClinVar |
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NCBI chr11:65,333,852...65,354,262
Ensembl chr11:65,333,843...65,354,262
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G |
E2F1 |
E2F transcription factor 1 |
severity |
IEP |
|
RGD |
PMID:28042322 |
RGD:13702468 |
NCBI chr20:33,675,477...33,686,385
Ensembl chr20:33,675,477...33,686,385
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G |
E2F3 |
E2F transcription factor 3 |
disease_progression |
IEP |
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RGD |
PMID:28337965 |
RGD:13702470 |
NCBI chr 6:20,401,879...20,493,714
Ensembl chr 6:20,401,879...20,493,714
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G |
EFEMP1 |
EGF containing fibulin extracellular matrix protein 1 |
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IEP |
protein:increased expression:brain: |
RGD |
PMID:19887559 |
RGD:10401656 |
NCBI chr 2:55,865,967...55,923,782
Ensembl chr 2:55,865,967...55,924,139
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G |
EFL1 |
elongation factor like GTPase 1 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25015090 |
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NCBI chr15:82,130,233...82,262,734
Ensembl chr15:82,130,206...82,262,773
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G |
EGF |
epidermal growth factor |
susceptibility |
IAGP |
DNA:polymorphism:promoter:+61A>G(human) DNA:polymorphism:promoter:GG genotypes were associated with increased risk. |
RGD |
PMID:22106858 PMID:17473192 |
RGD:13702473, RGD:13702474 |
NCBI chr 4:109,912,883...110,013,766
Ensembl chr 4:109,912,883...110,013,766
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G |
EGFR |
epidermal growth factor receptor |
treatment |
IEP ISO IAGP |
protein:alternative form:tumor (human) ClinVar Annotator: match by term: Brainstem glioma |
ClinVar RGD |
PMID:17177598 PMID:26619011 PMID:7606735 PMID:10616092 |
RGD:5131512, RGD:38599219 |
NCBI chr 7:55,019,017...55,211,628
Ensembl chr 7:55,019,017...55,211,628
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G |
EHBP1L1 |
EH domain binding protein 1 like 1 |
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IAGP |
ClinVar Annotator: match by term: Ependymoma |
ClinVar |
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NCBI chr11:65,576,053...65,592,650
Ensembl chr11:65,576,046...65,592,650
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G |
EHD1 |
EH domain containing 1 |
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IAGP EXP |
ClinVar Annotator: match by term: Ependymoma CTD Direct Evidence: marker/mechanism |
ClinVar CTD |
PMID:35616188 |
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NCBI chr11:64,851,642...64,879,693
Ensembl chr11:64,851,642...64,888,296
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G |
ENTPD2 |
ectonucleoside triphosphate diphosphohydrolase 2 |
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IDA |
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RGD |
PMID:19558578 |
RGD:9685528 |
NCBI chr 9:137,048,107...137,054,061
Ensembl chr 9:137,048,107...137,054,061
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G |
EPHA5 |
EPH receptor A5 |
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IAGP |
ClinVar Annotator: match by term: Astrocytoma |
ClinVar |
PMID:25741868 |
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NCBI chr 4:65,319,567...65,670,489
Ensembl chr 4:65,319,563...65,670,495
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G |
EPO |
erythropoietin |
|
IMP |
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RGD |
PMID:21749867 |
RGD:10400910 |
NCBI chr 7:100,720,468...100,723,700
Ensembl chr 7:100,720,468...100,723,700
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G |
EPOR |
erythropoietin receptor |
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IMP |
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RGD |
PMID:21749867 |
RGD:10400910 |
NCBI chr19:11,377,207...11,384,314
Ensembl chr19:11,377,207...11,384,342
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G |
ERBB2 |
erb-b2 receptor tyrosine kinase 2 |
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IAGP EXP |
ClinVar Annotator: match by term: Glioma susceptibility 1 CTD Direct Evidence: marker/mechanism |
ClinVar CTD OMIM |
PMID:15457249 |
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NCBI chr17:39,688,094...39,728,658
Ensembl chr17:39,687,914...39,730,426
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G |
ERCC1 |
ERCC excision repair 1, endonuclease non-catalytic subunit |
susceptibility |
IAGP |
DNA:snp:3'utr:c.8092C>A (human) (rs3212986) |
RGD |
PMID:25867436 |
RGD:13207318 |
NCBI chr19:45,407,334...45,451,547
Ensembl chr19:45,407,334...45,478,828
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G |
ERCC2 |
ERCC excision repair 2, TFIIH core complex helicase subunit |
susceptibility |
IAGP |
|
RGD |
PMID:11319176 |
RGD:10401082 |
NCBI chr19:45,349,837...45,370,573
Ensembl chr19:45,349,837...45,370,918
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G |
ERCC5 |
ERCC excision repair 5, endonuclease |
susceptibility |
IAGP |
DNA:SNP:cd: p.D1558H (rs17655) (human) |
RGD |
PMID:23534771 |
RGD:401850601 |
NCBI chr13:102,846,032...102,875,995
Ensembl chr13:102,845,831...102,875,995
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G |
ESRRA |
estrogen related receptor alpha |
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IAGP |
ClinVar Annotator: match by term: Ependymoma |
ClinVar |
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NCBI chr11:64,305,524...64,316,743
Ensembl chr11:64,305,497...64,316,743
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G |
F2 |
coagulation factor II, thrombin |
treatment |
ISO |
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RGD |
PMID:15975137 |
RGD:1578509 |
NCBI chr11:46,719,213...46,739,506
Ensembl chr11:46,719,196...46,739,506
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G |
FAM107A |
family with sequence similarity 107 member A |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16865689 |
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NCBI chr 3:58,564,117...58,627,610
Ensembl chr 3:58,564,117...58,627,610
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G |
FAM89B |
family with sequence similarity 89 member B |
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IAGP |
ClinVar Annotator: match by term: Ependymoma |
ClinVar |
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NCBI chr11:65,572,538...65,574,190
Ensembl chr11:65,572,349...65,574,198
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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 chr10:88,964,050...89,017,059
Ensembl chr10:88,953,813...89,029,605
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G |
FAU |
FAU ubiquitin like and ribosomal protein S30 fusion |
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IAGP |
ClinVar Annotator: match by term: Brainstem glioma |
ClinVar |
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NCBI chr11:65,120,630...65,122,134
Ensembl chr11:65,120,630...65,122,177
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G |
FBXW7 |
F-box and WD repeat domain containing 7 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18931460 |
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NCBI chr 4:152,320,544...152,536,092
Ensembl chr 4:152,320,544...152,536,092
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G |
FERMT3 |
FERM domain containing kindlin 3 |
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IAGP |
ClinVar Annotator: match by term: Brainstem glioma |
ClinVar |
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NCBI chr11:64,205,920...64,223,891
Ensembl chr11:64,205,926...64,223,896
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G |
FGF2 |
fibroblast growth factor 2 |
|
EXP |
CTD Direct Evidence: therapeutic |
CTD |
PMID:10673511 |
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NCBI chr 4:122,826,682...122,898,236
Ensembl chr 4:122,826,682...122,898,236
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G |
FGFR1 |
fibroblast growth factor receptor 1 |
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IAGP EXP |
ClinVar Annotator: match by term: Brainstem glioma ClinVar Annotator: match by term: Astrocytoma ClinVar Annotator: match by term: Rosette-forming glioneuronal tumor CTD Direct Evidence: marker/mechanism |
ClinVar CTD |
PMID:10766980 PMID:23583981 PMID:23819449 PMID:25705862 PMID:25741868 PMID:26619011 PMID:26822237 PMID:26942290 PMID:27626068 PMID:33448156 More...
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NCBI chr 8:38,411,143...38,468,635
Ensembl chr 8:38,400,215...38,468,834
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G |
FKBP2 |
FKBP prolyl isomerase 2 |
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IAGP |
ClinVar Annotator: match by term: Ependymoma |
ClinVar |
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NCBI chr11:64,241,095...64,244,135
Ensembl chr11:64,241,003...64,244,132
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G |
FLRT1 |
fibronectin leucine rich transmembrane protein 1 |
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IAGP |
ClinVar Annotator: match by term: Ependymoma |
ClinVar |
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NCBI chr11:64,035,931...64,119,171
Ensembl chr11:64,035,931...64,119,173
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G |
FLT3LG |
fms related receptor tyrosine kinase 3 ligand |
treatment |
IMP |
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RGD |
PMID:15564139 |
RGD:11049500 |
NCBI chr19:49,474,215...49,486,231
Ensembl chr19:49,474,207...49,486,231
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G |
FRMD8 |
FERM domain containing 8 |
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IAGP |
ClinVar Annotator: match by term: Brainstem glioma |
ClinVar |
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NCBI chr11:65,368,026...65,426,526
Ensembl chr11:65,386,621...65,413,525
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G |
FTH1 |
ferritin heavy chain 1 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21385903 |
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NCBI chr11:61,964,285...61,967,634
Ensembl chr11:61,959,718...61,967,634
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G |
GDNF |
glial cell derived neurotrophic factor |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19138852 |
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NCBI chr 5:37,812,677...37,840,041
Ensembl chr 5:37,812,677...37,840,041
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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 6:121,435,646...121,449,727
Ensembl chr 6:121,435,595...121,449,727
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G |
GLB1 |
galactosidase beta 1 |
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IAGP |
ClinVar Annotator: match by term: Ependymoma |
ClinVar |
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NCBI chr 3:32,961,108...33,097,146
Ensembl chr 3:32,996,609...33,097,202
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G |
GON4L |
gon-4 like |
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IAGP |
ClinVar Annotator: match by term: Ependymoma |
ClinVar |
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NCBI chr 1:155,745,112...155,859,431
Ensembl chr 1:155,749,659...155,859,400
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G |
GPHA2 |
glycoprotein hormone subunit alpha 2 |
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IAGP |
ClinVar Annotator: match by term: Ependymoma |
ClinVar |
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NCBI chr11:64,934,471...64,937,708
Ensembl chr11:64,934,471...64,935,893
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G |
GPR137 |
G protein-coupled receptor 137 |
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IAGP |
ClinVar Annotator: match by term: Ependymoma |
ClinVar |
|
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NCBI chr11:64,270,531...64,289,500
Ensembl chr11:64,270,062...64,289,494
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G |
GSTM1 |
glutathione S-transferase mu 1 |
severity |
IAGP |
|
RGD |
PMID:10965818 |
RGD:5490163 |
NCBI chr 1:109,687,817...109,693,745
Ensembl chr 1:109,687,814...109,709,039
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|
G |
GSTM3 |
glutathione S-transferase mu 3 |
|
IAGP |
DNA: deletion: intron 6 |
RGD |
PMID:16598069 |
RGD:5688743 |
NCBI chr 1:109,733,937...109,741,038
Ensembl chr 1:109,733,932...109,741,038
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|
G |
GSTP1 |
glutathione S-transferase pi 1 |
susceptibility |
IAGP EXP |
DNA:polymorphism:exon:p.I105V (rs1695) (human) CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:16899598 PMID:15006924 |
RGD:5490124 |
NCBI chr11:67,583,812...67,586,653
Ensembl chr11:67,583,742...67,586,656
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G |
H3-3A |
H3.3 histone A |
|
IAGP EXP |
ClinVar Annotator: match by term: Brainstem glioma CTD Direct Evidence: marker/mechanism |
ClinVar CTD |
PMID:22286216 PMID:23583981 PMID:26619011 |
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NCBI chr 1:226,061,831...226,072,019
Ensembl chr 1:226,061,851...226,072,019
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G |
H3C11 |
H3 clustered histone 11 |
|
IAGP |
ClinVar Annotator: match by term: Brainstem glioma |
ClinVar |
PMID:26619011 |
|
NCBI chr 6:27,871,845...27,872,346
Ensembl chr 6:27,871,845...27,872,346
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G |
H3C2 |
H3 clustered histone 2 |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22286216 |
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NCBI chr 6:26,031,589...26,032,099
Ensembl chr 6:26,031,589...26,032,099
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|
G |
HDAC3 |
histone deacetylase 3 |
disease_progression |
IEP IAGP |
mRNA,protein:increased expression:brain: ClinVar Annotator: match by term: Ependymoma |
ClinVar RGD |
PMID:23685192 |
RGD:9590201 |
NCBI chr 5:141,620,881...141,636,849
Ensembl chr 5:141,620,876...141,636,849
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|
G |
HELLS |
helicase, lymphoid specific |
severity |
IEP |
|
RGD |
PMID:28042322 |
RGD:13702468 |
NCBI chr10:94,545,788...94,613,905
Ensembl chr10:94,545,329...94,613,905
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|
G |
HGF |
hepatocyte growth factor |
disease_progression |
IEP |
protein:increased expression:brain: |
RGD |
PMID:12115353 |
RGD:8548633 |
NCBI chr 7:81,699,010...81,770,047
Ensembl chr 7:81,699,010...81,770,438
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|
G |
HLA-A |
major histocompatibility complex, class I, A |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:14511464 |
|
NCBI chr 6:29,942,532...29,945,870
Ensembl chr 6:29,941,260...29,949,572
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|
G |
HLA-B |
major histocompatibility complex, class I, B |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:14511464 |
|
NCBI chr 6:31,353,875...31,357,179
Ensembl chr 6:31,353,872...31,367,067
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G |
HLA-C |
major histocompatibility complex, class I, C |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:14511464 |
|
NCBI chr 6:31,268,749...31,272,092
Ensembl chr 6:31,268,749...31,272,130
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G |
HMGB1 |
high mobility group box 1 |
treatment |
ISO |
|
RGD |
PMID:10830965 |
RGD:10402059 |
NCBI chr13:30,456,704...30,617,597
Ensembl chr13:30,456,704...30,617,597
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G |
HMGN5 |
high mobility group nucleosome binding domain 5 |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22109888 |
|
NCBI chr X:81,113,699...81,201,913
Ensembl chr X:81,113,699...81,201,913
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G |
HOXD11 |
homeobox D11 |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:33614284 |
|
NCBI chr 2:176,107,280...176,115,679
Ensembl chr 2:176,104,216...176,109,754
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G |
HRAS |
HRas proto-oncogene, GTPase |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30619488 |
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NCBI chr11:532,242...535,576
Ensembl chr11:532,242...537,321
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|
G |
HSD3B2 |
hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 |
|
IAGP |
ClinVar Annotator: match by term: Ependymoma |
ClinVar |
|
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NCBI chr 1:119,414,931...119,423,034
Ensembl chr 1:119,414,931...119,423,035
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G |
HSPA5 |
heat shock protein family A (Hsp70) member 5 |
|
IEP |
protein:increased expression |
RGD |
PMID:21112319 |
RGD:5685704 |
NCBI chr 9:125,234,853...125,241,343
Ensembl chr 9:125,234,853...125,241,382
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|
G |
IDH1 |
isocitrate dehydrogenase (NADP(+)) 1 |
susceptibility |
IAGP EXP |
ClinVar Annotator: match by term: Brainstem glioma ClinVar Annotator: match by term: Glioma susceptibility 1 CTD Direct Evidence: marker/mechanism |
ClinVar OMIM CTD |
PMID:18772396 PMID:19657110 PMID:19798509 PMID:19818334 PMID:19901110 PMID:20946881 PMID:21352804 PMID:21446021 PMID:22160010 PMID:22397365 PMID:22417203 PMID:22898539 PMID:23558169 PMID:24606448 PMID:25043048 PMID:25157968 PMID:25391653 PMID:25741868 PMID:25848751 PMID:26618343 PMID:26619011 PMID:27993330 PMID:28122345 PMID:30231226 PMID:36201590 More...
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NCBI chr 2:208,236,227...208,255,071
Ensembl chr 2:208,236,229...208,266,074
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G |
IDH2 |
isocitrate dehydrogenase (NADP(+)) 2 |
|
IAGP |
ClinVar Annotator: match by term: Brainstem glioma |
ClinVar |
PMID:20946881 PMID:21250968 PMID:21596855 PMID:21997850 PMID:22160010 PMID:22397365 PMID:22417203 PMID:22616558 PMID:22898539 PMID:23949315 PMID:24606448 PMID:25157968 PMID:26619011 More...
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NCBI chr15:90,083,045...90,102,468
Ensembl chr15:90,083,045...90,102,477
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G |
IFNG |
interferon gamma |
|
ISO |
|
RGD |
PMID:10078962 |
RGD:727266 |
NCBI chr12:68,154,768...68,159,740
Ensembl chr12:68,154,768...68,159,740
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G |
IGF1 |
insulin like growth factor 1 |
severity |
IEP |
protein:increased expression:serum: |
RGD |
PMID:21788435 |
RGD:8548833 |
NCBI chr12:102,395,874...102,481,839
Ensembl chr12:102,395,874...102,481,744
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G |
IGF1R |
insulin like growth factor 1 receptor |
|
IAGP |
DNA: SNP: : rs2272037 or rs2016347 |
RGD |
PMID:18562769 |
RGD:5686434 |
NCBI chr15:98,648,539...98,964,530
Ensembl chr15:98,648,539...98,964,530
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G |
IGFBP3 |
insulin like growth factor binding protein 3 |
severity |
IEP |
protein:increased expression:serum: |
RGD |
PMID:21788435 |
RGD:8548833 |
NCBI chr 7:45,912,245...45,921,272
Ensembl chr 7:45,912,245...45,921,874
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G |
IL10 |
interleukin 10 |
susceptibility |
IAGP |
DNA:SNP: :rs1800896 (human) |
RGD |
PMID:20406895 |
RGD:4140470 |
NCBI chr 1:206,767,602...206,772,494
Ensembl chr 1:206,767,602...206,774,541
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G |
IL12A |
interleukin 12A |
|
EXP |
CTD Direct Evidence: therapeutic |
CTD |
PMID:18176109 |
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NCBI chr 3:159,988,835...159,996,019
Ensembl chr 3:159,988,835...159,996,019
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G |
IL12B |
interleukin 12B |
|
EXP |
CTD Direct Evidence: therapeutic |
CTD |
PMID:18176109 |
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NCBI chr 5:159,314,780...159,330,487
Ensembl chr 5:159,314,780...159,330,863
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G |
IL18 |
interleukin 18 |
treatment |
ISO |
|
RGD |
PMID:18725309 |
RGD:8657054 |
NCBI chr11:112,143,260...112,164,094
Ensembl chr11:112,143,253...112,164,096
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G |
IL2 |
interleukin 2 |
treatment |
IDA |
|
RGD |
PMID:12864971 |
RGD:8663439 |
NCBI chr 4:122,451,470...122,456,725
Ensembl chr 4:122,451,470...122,456,725
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G |
IL4 |
interleukin 4 |
treatment |
ISO |
|
RGD |
PMID:9973213 |
RGD:8142389 |
NCBI chr 5:132,673,989...132,682,678
Ensembl chr 5:132,673,986...132,682,678
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G |
IL7 |
interleukin 7 |
|
ISO |
|
RGD |
PMID:10078962 |
RGD:727266 |
NCBI chr 8:78,675,044...78,805,463
Ensembl chr 8:78,675,743...78,805,523
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G |
ISG15 |
ISG15 ubiquitin like modifier |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:35506701 |
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NCBI chr 1:1,013,497...1,014,540
Ensembl chr 1:1,001,138...1,014,540
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G |
KAT6B |
lysine acetyltransferase 6B |
|
IAGP |
ClinVar Annotator: match by term: Ependymoma |
ClinVar |
|
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NCBI chr10:74,824,936...75,032,624
Ensembl chr10:74,824,927...75,032,624
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G |
KCNK4 |
potassium two pore domain channel subfamily K member 4 |
|
IAGP |
ClinVar Annotator: match by term: Ependymoma |
ClinVar |
|
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NCBI chr11:64,291,302...64,300,031
Ensembl chr11:64,291,302...64,300,031
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G |
KCNK7 |
potassium two pore domain channel subfamily K member 7 |
|
IAGP |
ClinVar Annotator: match by term: Ependymoma |
ClinVar |
|
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NCBI chr11:65,592,836...65,595,800
Ensembl chr11:65,592,836...65,595,996
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G |
KDM5B |
lysine demethylase 5B |
disease_progression |
IEP IMP |
|
RGD |
PMID:25450384 PMID:25450384 |
RGD:13702126, RGD:13702126 |
NCBI chr 1:202,724,495...202,808,421
Ensembl chr 1:202,724,495...202,808,487
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G |
KDR |
kinase insert domain receptor |
disease_progression severity |
ISO IEP |
|
RGD |
PMID:20501615 PMID:10506722 |
RGD:5684393, RGD:5684425 |
NCBI chr 4:55,078,481...55,125,595
Ensembl chr 4:55,078,481...55,125,595
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G |
KLHL21 |
kelch like family member 21 |
|
IAGP |
ClinVar Annotator: match by term: Ependymoma |
ClinVar |
|
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NCBI chr 1:6,590,724...6,602,869
Ensembl chr 1:6,590,724...6,614,607
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G |
KMT2D |
lysine methyltransferase 2D |
|
IAGP |
ClinVar Annotator: match by term: Astrocytoma |
ClinVar |
PMID:25741868 |
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NCBI chr12:49,018,978...49,060,794
Ensembl chr12:49,018,975...49,060,794
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G |
KRAS |
KRAS proto-oncogene, GTPase |
severity |
IEP ISO |
|
RGD |
PMID:22207524 PMID:19435821 |
RGD:13702477, RGD:13702860 |
NCBI chr12:25,205,246...25,250,929
Ensembl chr12:25,205,246...25,250,936
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G |
KREMEN2 |
kringle containing transmembrane protein 2 |
|
IAGP |
ClinVar Annotator: match by term: Ependymoma |
ClinVar |
|
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NCBI chr16:2,964,275...2,968,380
Ensembl chr16:2,964,216...2,968,380
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G |
LATS1 |
large tumor suppressor kinase 1 |
|
IAGP |
ClinVar Annotator: match by term: Ependymoma |
ClinVar |
|
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NCBI chr 6:149,658,153...149,718,101
Ensembl chr 6:149,658,153...149,718,105
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G |
LETM1 |
leucine zipper and EF-hand containing transmembrane protein 1 |
|
IAGP |
ClinVar Annotator: match by term: Ependymoma |
ClinVar |
|
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NCBI chr 4:1,811,479...1,856,156
Ensembl chr 4:1,811,479...1,856,156
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G |
LGALS3 |
galectin 3 |
disease_progression |
ISO |
|
RGD |
PMID:23179497 |
RGD:9685225 |
NCBI chr14:55,129,252...55,145,430
Ensembl chr14:55,124,110...55,145,423
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G |
LIG4 |
DNA ligase 4 |
|
IAGP |
DNA:SNP: :rs1805388 (human) |
RGD |
PMID:23663450 |
RGD:13204718 |
NCBI chr13:108,207,442...108,218,349
Ensembl chr13:108,207,439...108,218,368
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G |
LOC110121191 |
VISTA enhancer hs1709 |
|
IAGP |
ClinVar Annotator: match by term: Glioma susceptibility 7 |
ClinVar |
PMID:36201590 |
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NCBI chr 8:129,631,844...129,635,071
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G |
LOC129994870 |
ATAC-STARR-seq lymphoblastoid silent region 16458 |
|
IAGP |
ClinVar Annotator: match by term: Ependymoma |
ClinVar |
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G |
LTA |
lymphotoxin alpha |
treatment |
IDA |
|
RGD |
PMID:1883913 |
RGD:1625042 |
NCBI chr 6:31,560,610...31,574,324
Ensembl chr 6:31,572,054...31,574,324
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G |
LTBP3 |
latent transforming growth factor beta binding protein 3 |
|
IAGP |
ClinVar Annotator: match by term: Ependymoma |
ClinVar |
|
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NCBI chr11:65,538,559...65,558,359
Ensembl chr11:65,538,559...65,558,930
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G |
MACROD1 |
mono-ADP ribosylhydrolase 1 |
|
IAGP |
ClinVar Annotator: match by term: Ependymoma |
ClinVar |
|
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NCBI chr11:63,998,558...64,166,113
Ensembl chr11:63,998,558...64,166,113
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G |
MAJIN |
membrane anchored junction protein |
|
IAGP |
ClinVar Annotator: match by term: Ependymoma |
ClinVar |
|
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NCBI chr11:64,938,230...64,972,108
Ensembl chr11:64,937,517...64,972,108
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G |
MALAT1 |
metastasis associated lung adenocarcinoma transcript 1 |
|
IAGP |
ClinVar Annotator: match by term: Ependymoma |
ClinVar |
|
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NCBI chr11:65,497,738...65,506,516
Ensembl chr11:65,497,640...65,508,073
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G |
MAP2K1 |
mitogen-activated protein kinase kinase 1 |
|
IMP |
|
RGD |
PMID:21057530 |
RGD:13702863 |
NCBI chr15:66,386,912...66,491,544
Ensembl chr15:66,386,837...66,491,656
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G |
MAP3K11 |
mitogen-activated protein kinase kinase kinase 11 |
|
IAGP |
ClinVar Annotator: match by term: Ependymoma |
ClinVar |
|
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NCBI chr11:65,597,757...65,614,221
Ensembl chr11:65,597,756...65,615,382
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G |
MAP4K2 |
mitogen-activated protein kinase kinase kinase kinase 2 |
|
IAGP |
ClinVar Annotator: match by term: Ependymoma |
ClinVar |
|
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NCBI chr11:64,784,918...64,803,214
Ensembl chr11:64,784,918...64,803,241
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G |
MAP4K3 |
mitogen-activated protein kinase kinase kinase kinase 3 |
|
IAGP |
ClinVar Annotator: match by term: Ependymoma |
ClinVar |
|
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NCBI chr 2:39,249,266...39,437,285
Ensembl chr 2:39,249,266...39,437,301
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G |
MAPK3 |
mitogen-activated protein kinase 3 |
|
ISO |
|
RGD |
PMID:27256374 |
RGD:13702865 |
NCBI chr16:30,114,105...30,123,220
Ensembl chr16:30,114,105...30,123,506
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G |
MARK2 |
microtubule affinity regulating kinase 2 |
|
IAGP |
ClinVar Annotator: match by term: Ependymoma |
ClinVar |
|
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NCBI chr11:63,839,110...63,911,020
Ensembl chr11:63,838,928...63,911,020
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G |
MDK |
midkine |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21233844 |
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NCBI chr11:46,380,784...46,383,837
Ensembl chr11:46,380,756...46,383,837
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G |
MEN1 |
menin 1 |
|
IAGP |
ClinVar Annotator: match by term: Ependymoma |
ClinVar |
|
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NCBI chr11:64,803,516...64,811,294
Ensembl chr11:64,803,510...64,811,294
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G |
MET |
MET proto-oncogene, receptor tyrosine kinase |
|
ISO |
protein:increased expression:brain, glioma (rat) |
RGD |
PMID:18194445 |
RGD:2317467 |
NCBI chr 7:116,672,196...116,798,377
Ensembl chr 7:116,672,196...116,798,377
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|
G |
MGMT |
O-6-methylguanine-DNA methyltransferase |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16033832 PMID:16899598 PMID:19901110 |
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NCBI chr10:129,467,241...129,770,983
Ensembl chr10:129,467,190...129,770,983
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G |
MIR192 |
microRNA 192 |
|
IAGP |
ClinVar Annotator: match by term: Ependymoma |
ClinVar |
|
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NCBI chr11:64,891,137...64,891,246
Ensembl chr11:64,891,137...64,891,246
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G |
MIR194-2 |
microRNA 194-2 |
|
IAGP |
ClinVar Annotator: match by term: Ependymoma |
ClinVar |
|
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NCBI chr11:64,891,355...64,891,439
Ensembl chr11:64,891,355...64,891,439
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G |
MIR215 |
microRNA 215 |
disease_progression |
IEP |
|
RGD |
PMID:28573541 |
RGD:13782061 |
NCBI chr 1:220,117,853...220,117,962
Ensembl chr 1:220,117,853...220,117,962
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G |
MKI67 |
marker of proliferation Ki-67 |
|
ISO |
|
RGD |
PMID:22262719 |
RGD:6483547 |
NCBI chr10:128,096,659...128,126,423
Ensembl chr10:128,096,659...128,126,423
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G |
MMP2 |
matrix metallopeptidase 2 |
treatment |
ISO |
|
RGD |
PMID:19292920 |
RGD:8657080 |
NCBI chr16:55,478,830...55,506,691
Ensembl chr16:55,389,700...55,506,691
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G |
MRPL49 |
mitochondrial ribosomal protein L49 |
|
IAGP |
ClinVar Annotator: match by term: Ependymoma |
ClinVar |
|
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NCBI chr11:65,122,183...65,127,371
Ensembl chr11:65,122,183...65,127,371
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G |
MSH2 |
mutS homolog 2 |
|
IAGP |
ClinVar Annotator: match by term: Ependymoma |
ClinVar |
PMID:11726306 PMID:15849733 PMID:17101317 PMID:25741868 PMID:28492532 PMID:28785832 PMID:33357406 PMID:34359559 More...
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NCBI chr 2:47,403,067...47,709,830
Ensembl chr 2:47,403,067...47,663,146
|
|
G |
MT-ND4 |
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 |
|
IAGP |
ClinVar Annotator: match by term: Ependymoma |
ClinVar |
|
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NCBI chr MT:10,760...12,137
Ensembl chr MT:10,760...12,137
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G |
MTOR |
mechanistic target of rapamycin kinase |
severity |
IEP |
|
RGD |
PMID:20878445 |
RGD:13702868 |
NCBI chr 1:11,106,535...11,262,551
Ensembl chr 1:11,106,535...11,262,556
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G |
MYB |
MYB proto-oncogene, transcription factor |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23583981 PMID:26829751 |
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NCBI chr 6:135,181,308...135,219,172
Ensembl chr 6:135,181,308...135,219,173
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G |
MYBL1 |
MYB proto-oncogene like 1 |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23583981 |
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NCBI chr 8:66,562,175...66,613,218
Ensembl chr 8:66,562,175...66,614,247
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G |
MYLK |
myosin light chain kinase |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:10232591 |
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NCBI chr 3:123,610,049...123,884,332
Ensembl chr 3:123,610,049...123,884,332
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|
G |
NAA40 |
N-alpha-acetyltransferase 40, NatD catalytic subunit |
|
IAGP |
ClinVar Annotator: match by term: Ependymoma |
ClinVar |
|
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NCBI chr11:63,939,002...63,957,319
Ensembl chr11:63,938,959...63,957,319
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G |
NAALADL1 |
N-acetylated alpha-linked acidic dipeptidase like 1 |
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IAGP |
ClinVar Annotator: match by term: Ependymoma |
ClinVar |
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NCBI chr11:65,044,818...65,061,203
Ensembl chr11:65,044,818...65,058,553
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G |
NADSYN1 |
NAD synthetase 1 |
susceptibility |
IAGP |
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RGD |
PMID:22740028 |
RGD:13703114 |
NCBI chr11:71,453,203...71,501,816
Ensembl chr11:71,453,109...71,524,107
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G |
NDRG4 |
NDRG family member 4 |
disease_progression |
IEP |
protein:decreased expression:brain |
RGD |
PMID:22399192 |
RGD:7247727 |
NCBI chr16:58,463,715...58,515,387
Ensembl chr16:58,462,846...58,513,628
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G |
NEAT1 |
nuclear paraspeckle assembly transcript 1 |
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IAGP |
ClinVar Annotator: match by term: Ependymoma |
ClinVar |
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NCBI chr11:65,422,798...65,445,540
Ensembl chr11:65,422,774...65,445,540
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G |
NET1 |
neuroepithelial cell transforming 1 |
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IAGP |
ClinVar Annotator: match by term: Ependymoma |
ClinVar |
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NCBI chr10:5,412,557...5,459,056
Ensembl chr10:5,412,557...5,459,056
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G |
NF1 |
neurofibromin 1 |
disease_progression |
IAGP EXP |
DNA:mutations: : CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:25119042 PMID:26190195 |
RGD:12789702 |
NCBI chr17:31,094,927...31,377,677
Ensembl chr17:31,094,927...31,382,116
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G |
NF2 |
NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor |
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IAGP |
ClinVar Annotator: match by term: Ependymoma |
ClinVar |
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NCBI chr22:29,603,556...29,698,600
Ensembl chr22:29,603,556...29,698,598
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G |
NOS3 |
nitric oxide synthase 3 |
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IEP |
protein:increased expression:blood vessel endothelial cell |
RGD |
PMID:14672505 |
RGD:2292080 |
NCBI chr 7:150,991,017...151,014,588
Ensembl chr 7:150,991,017...151,014,588
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G |
NRXN2 |
neurexin 2 |
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IAGP |
ClinVar Annotator: match by term: Ependymoma |
ClinVar |
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NCBI chr11:64,606,174...64,723,197
Ensembl chr11:64,606,174...64,723,197
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G |
NTRK1 |
neurotrophic receptor tyrosine kinase 1 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24705251 |
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NCBI chr 1:156,815,750...156,881,850
Ensembl chr 1:156,815,636...156,881,850
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G |
NTRK2 |
neurotrophic receptor tyrosine kinase 2 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24705251 |
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NCBI chr 9:84,668,522...85,027,054
Ensembl chr 9:84,668,375...85,095,751
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G |
NTRK3 |
neurotrophic receptor tyrosine kinase 3 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24705251 |
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NCBI chr15:87,859,751...88,256,739
Ensembl chr15:87,859,751...88,256,791
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G |
NUDT22 |
nudix hydrolase 22 |
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IAGP |
ClinVar Annotator: match by term: Brainstem glioma |
ClinVar |
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NCBI chr11:64,226,258...64,230,269
Ensembl chr11:64,225,941...64,230,686
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G |
OTUB1 |
OTU deubiquitinase, ubiquitin aldehyde binding 1 |
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IAGP |
ClinVar Annotator: match by term: Ependymoma |
ClinVar |
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NCBI chr11:63,986,438...63,998,412
Ensembl chr11:63,985,853...64,001,811
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G |
OTUD5 |
OTU deubiquitinase 5 |
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IAGP |
ClinVar Annotator: match by term: Ependymoma |
ClinVar |
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NCBI chr X:48,922,024...48,958,381
Ensembl chr X:48,922,024...48,958,386
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G |
PATZ1 |
POZ/BTB and AT hook containing zinc finger 1 |
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IAGP |
ClinVar Annotator: match by term: Ependymoma |
ClinVar |
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NCBI chr22:31,325,804...31,346,346
Ensembl chr22:31,325,804...31,346,346
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G |
PCMT1 |
protein-L-isoaspartate (D-aspartate) O-methyltransferase |
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ISO |
mRNA:decreased expression:brain: |
RGD |
PMID:15857672 |
RGD:10448283 |
NCBI chr 6:149,749,695...149,811,421
Ensembl chr 6:149,749,444...149,811,420
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G |
PCNX3 |
pecanex 3 |
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IAGP |
ClinVar Annotator: match by term: Ependymoma |
ClinVar |
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NCBI chr11:65,615,776...65,637,439
Ensembl chr11:65,615,776...65,637,439
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G |
PDAP1 |
PDGFA associated protein 1 |
severity |
IEP |
|
RGD |
PMID:27448842 |
RGD:13702895 |
NCBI chr 7:99,394,673...99,408,597
Ensembl chr 7:99,392,048...99,408,597
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G |
PDGFA |
platelet derived growth factor subunit A |
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IMP |
in a mouse model |
RGD |
PMID:21490965 |
RGD:13702894 |
NCBI chr 7:497,258...520,700
Ensembl chr 7:497,258...520,296
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G |
PDGFB |
platelet derived growth factor subunit B |
severity |
IEP IMP |
|
RGD |
PMID:27448842 PMID:21677873 PMID:26945107 |
RGD:13702895, RGD:13702897, RGD:13702896 |
NCBI chr22:39,223,359...39,244,982
Ensembl chr22:39,223,359...39,244,982
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G |
PHLDB1 |
pleckstrin homology like domain family B member 1 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19578367 |
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NCBI chr11:118,606,436...118,658,028
Ensembl chr11:118,606,440...118,658,031
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G |
PIK3CA |
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha |
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TAS IAGP |
ClinVar Annotator: match by term: Brainstem glioma |
ClinVar RGD |
PMID:15016963 PMID:15254419 PMID:15520168 PMID:15608678 PMID:15647370 PMID:15805248 PMID:15930273 PMID:16906227 PMID:16930767 PMID:17376864 PMID:17673550 PMID:18676830 PMID:18725974 PMID:19029981 PMID:19223544 PMID:19366826 PMID:19513541 PMID:19903786 PMID:20453058 PMID:20593314 PMID:20619739 PMID:21078999 PMID:21430269 PMID:21558396 PMID:21824802 PMID:22162582 PMID:22162589 PMID:22271473 PMID:22370636 PMID:22658544 PMID:22729222 PMID:22729223 PMID:22729224 PMID:22949682 PMID:23066039 PMID:23100325 PMID:23408298 PMID:23888070 PMID:23946963 PMID:24033266 PMID:24265155 PMID:24497998 PMID:24782230 PMID:25157968 PMID:25599672 PMID:25741868 PMID:25880439 PMID:26266975 PMID:26266985 PMID:26351730 PMID:26619011 PMID:26627007 PMID:26637981 PMID:26822237 PMID:27126994 PMID:27626068 PMID:27631024 PMID:28151489 PMID:28425981 PMID:28492532 PMID:28941273 PMID:29446767 PMID:29549527 PMID:29661094 PMID:29988677 PMID:30376034 PMID:30543347 PMID:31536475 PMID:31775759 PMID:32778138 PMID:34008892 PMID:34496175 PMID:37712948 PMID:16847462 More...
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RGD:2290476 |
NCBI chr 3:179,148,126...179,240,093
Ensembl chr 3:179,148,114...179,240,093
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G |
PIK3R3 |
phosphoinositide-3-kinase regulatory subunit 3 |
treatment |
IEP |
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RGD |
PMID:28260020 |
RGD:13782053 |
NCBI chr 1:46,040,140...46,174,901
Ensembl chr 1:46,040,140...46,133,036
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G |
PLAU |
plasminogen activator, urokinase |
severity |
IEP |
protein:increased expression:brain (human) |
RGD |
PMID:7604873 |
RGD:7241260 |
NCBI chr10:73,909,164...73,917,494
Ensembl chr10:73,909,177...73,917,496
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G |
PLCB3 |
phospholipase C beta 3 |
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IAGP |
ClinVar Annotator: match by term: Ependymoma |
ClinVar |
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NCBI chr11:64,251,530...64,269,452
Ensembl chr11:64,251,530...64,269,150
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G |
PLK1 |
polo like kinase 1 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22000864 |
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NCBI chr16:23,678,889...23,690,367
Ensembl chr16:23,677,656...23,690,367
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G |
POLA2 |
DNA polymerase alpha 2, accessory subunit |
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IAGP |
ClinVar Annotator: match by term: Ependymoma |
ClinVar |
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NCBI chr11:65,261,962...65,305,985
Ensembl chr11:65,261,913...65,305,959
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G |
POT1 |
protection of telomeres 1 |
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IAGP |
ClinVar Annotator: match by term: Glioma susceptibility 1 ClinVar Annotator: match by term: Glioma susceptibility 9 |
ClinVar |
PMID:25741868 PMID:28492532 PMID:32191290 |
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NCBI chr 7:124,822,386...124,929,825
Ensembl chr 7:124,822,386...124,929,983
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G |
POU3F4 |
POU class 3 homeobox 4 |
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IAGP |
ClinVar Annotator: match by term: Ependymoma |
ClinVar |
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NCBI chr X:83,508,290...83,512,127
Ensembl chr X:83,508,290...83,512,127
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G |
POU5F1 |
POU class 5 homeobox 1 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:35506701 |
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NCBI chr 6:31,164,337...31,170,682
Ensembl chr 6:31,164,337...31,180,731
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G |
PPARG |
peroxisome proliferator activated receptor gamma |
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IAGP |
ClinVar Annotator: match by term: Glioma susceptibility 1 |
ClinVar |
PMID:9467001 PMID:10381354 PMID:10523018 PMID:10690291 PMID:10851250 PMID:14569127 PMID:14616762 PMID:14671186 PMID:28492532 More...
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NCBI chr 3:12,287,368...12,434,344
Ensembl chr 3:12,287,368...12,434,356
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G |
PPM1D |
protein phosphatase, Mg2+/Mn2+ dependent 1D |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24880341 |
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NCBI chr17:60,600,193...60,666,280
Ensembl chr17:60,600,193...60,666,280
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G |
PPP1R14B |
protein phosphatase 1 regulatory inhibitor subunit 14B |
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IAGP |
ClinVar Annotator: match by term: Ependymoma |
ClinVar |
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NCBI chr11:64,244,479...64,246,943
Ensembl chr11:64,244,479...64,246,943
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G |
PPP2R5B |
protein phosphatase 2 regulatory subunit B'beta |
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IAGP |
ClinVar Annotator: match by term: Ependymoma |
ClinVar |
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NCBI chr11:64,917,573...64,934,475
Ensembl chr11:64,917,553...64,934,475
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G |
PRDX5 |
peroxiredoxin 5 |
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IAGP |
ClinVar Annotator: match by term: Ependymoma |
ClinVar |
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NCBI chr11:64,318,121...64,321,811
Ensembl chr11:64,318,121...64,321,811
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G |
PRKCA |
protein kinase C alpha |
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IAGP |
DNA:gene fusion: : |
RGD |
PMID:26671581 |
RGD:11087038 |
NCBI chr17:66,302,613...66,810,743
Ensembl chr17:66,302,613...66,810,743
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G |
PSD3 |
pleckstrin and Sec7 domain containing 3 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16865689 |
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NCBI chr 8:18,527,303...19,084,805
Ensembl chr 8:18,527,303...19,084,730
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G |
PTEN |
phosphatase and tensin homolog |
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IAGP EXP |
DNA:deletions, missense mutations, nonsense mutation:exons:multiple (human) ClinVar Annotator: match by term: Glioma susceptibility 2 ClinVar Annotator: match by term: Brainstem glioma CTD Direct Evidence: marker/mechanism |
ClinVar OMIM CTD RGD |
PMID:1336932 PMID:7728760 PMID:8980400 PMID:9140396 PMID:9241266 PMID:9256433 PMID:9259288 PMID:9326929 PMID:9399897 PMID:9467011 PMID:9536098 PMID:9598803 PMID:9600246 PMID:9735393 PMID:9740666 PMID:9856571 PMID:10232405 PMID:10353779 PMID:10400993 PMID:10468583 PMID:10555148 PMID:10749983 PMID:10777358 PMID:10848731 PMID:10866302 PMID:10920277 PMID:10923032 PMID:11051241 PMID:11156408 PMID:11234884 PMID:11274365 PMID:11332402 PMID:11494117 PMID:11504908 PMID:11685670 PMID:11918710 PMID:12085208 PMID:12471211 PMID:12614768 PMID:12844284 PMID:14518070 PMID:14675182 PMID:15016963 PMID:15120218 PMID:15211648 PMID:15254419 PMID:15647370 PMID:15805158 PMID:16199547 PMID:16752378 PMID:16773562 PMID:16952599 PMID:17286265 PMID:17324556 PMID:17392703 PMID:17526800 PMID:17526801 PMID:17576681 PMID:17847000 PMID:17873882 PMID:17941496 PMID:17942903 PMID:18558293 PMID:18725974 PMID:18759867 PMID:18767981 PMID:19340001 PMID:19351834 PMID:19366826 PMID:19457929 PMID:19458356 PMID:19829307 PMID:19903786 PMID:20018398 PMID:20085938 PMID:20223021 PMID:20301661 PMID:20453058 PMID:20538496 PMID:20600018 PMID:20619739 PMID:20685300 PMID:20881644 PMID:20926450 PMID:21194675 PMID:21343951 PMID:21659347 PMID:21828076 PMID:21869887 PMID:21956414 PMID:22162582 PMID:22162589 PMID:22266152 PMID:22281088 PMID:22381246 PMID:22479427 PMID:22491738 PMID:22520842 PMID:22595938 PMID:22628360 PMID:23315997 PMID:23335809 PMID:23349303 PMID:23399955 PMID:23442912 PMID:23470840 PMID:23475934 PMID:23695273 PMID:23764071 PMID:23886400 PMID:23934601 PMID:24033266 PMID:24052722 PMID:24055113 PMID:24099866 PMID:24345843 PMID:24375884 PMID:24404930 PMID:24498881 PMID:24766807 PMID:24778394 PMID:24809327 PMID:25157968 PMID:25288137 PMID:25326635 PMID:25429968 PMID:25527629 PMID:25549896 PMID:25647146 PMID:25669429 PMID:25722288 PMID:25741868 PMID:25756585 PMID:25910213 PMID:25937288 PMID:25980754 PMID:26076150 PMID:26246517 PMID:26376867 PMID:26467025 PMID:26579216 PMID:26633542 PMID:26773036 PMID:27221918 PMID:27405757 PMID:27426521 PMID:27477328 PMID:27514801 PMID:27531073 PMID:27535533 PMID:27829222 PMID:27959697 PMID:28250423 PMID:28286253 PMID:28289760 PMID:28475857 PMID:28492532 PMID:28526761 PMID:28655553 PMID:28677221 PMID:28755079 PMID:29273943 PMID:29373119 PMID:29594054 PMID:29608813 PMID:29663862 PMID:29706350 PMID:29706633 PMID:29706646 PMID:29785012 PMID:29874181 PMID:29931205 PMID:29970488 PMID:30181857 PMID:30287823 PMID:30311380 PMID:30374176 PMID:30528446 PMID:30614812 PMID:30659124 PMID:30993208 PMID:31006514 PMID:31336731 PMID:32150788 PMID:32234455 PMID:32238909 PMID:32350270 PMID:32664367 PMID:32832836 PMID:32885271 PMID:33077954 PMID:33083010 PMID:33088792 PMID:33372952 PMID:33471991 PMID:33600059 PMID:33723755 PMID:34386506 PMID:35089076 PMID:35227301 PMID:36988593 PMID:9090379 More...
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RGD:12801495 |
NCBI chr10:87,863,625...87,971,930
Ensembl chr10:87,862,638...87,971,930
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G |
PTGS2 |
prostaglandin-endoperoxide synthase 2 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15561105 |
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NCBI chr 1:186,671,791...186,680,423
Ensembl chr 1:186,671,791...186,680,922
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G |
PTPN11 |
protein tyrosine phosphatase non-receptor type 11 |
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IAGP |
ClinVar Annotator: match by term: Astrocytoma |
ClinVar |
PMID:11704759 PMID:12634870 PMID:12717436 PMID:14644997 PMID:14974085 PMID:14982869 PMID:15385933 PMID:15710330 PMID:15834506 PMID:15842656 PMID:15928039 PMID:16358218 PMID:16518851 PMID:16830086 PMID:17177198 PMID:17942397 PMID:17972951 PMID:18470943 PMID:18559669 PMID:18678287 PMID:19047918 PMID:19179468 PMID:19509418 PMID:19798502 PMID:21901340 PMID:21930766 PMID:22190897 PMID:23756559 PMID:23825065 PMID:23832011 PMID:24033266 PMID:25097206 PMID:25395418 PMID:25741868 PMID:26619011 PMID:26783207 PMID:27069254 PMID:27276561 PMID:27783593 PMID:28098151 PMID:28492532 PMID:32561839 PMID:36349709 More...
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NCBI chr12:112,418,947...112,509,918
Ensembl chr12:112,418,351...112,509,918
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G |
PYGM |
glycogen phosphorylase, muscle associated |
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IAGP |
ClinVar Annotator: match by term: Ependymoma |
ClinVar |
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NCBI chr11:64,746,389...64,760,715
Ensembl chr11:64,746,389...64,759,974
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G |
QKI |
QKI, KH domain containing RNA binding |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26829751 |
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NCBI chr 6:163,414,718...163,578,592
Ensembl chr 6:163,414,000...163,578,592
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G |
RAF1 |
Raf-1 proto-oncogene, serine/threonine kinase |
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EXP IAGP |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Glioma |
CTD ClinVar |
PMID:23583981 |
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NCBI chr 3:12,583,601...12,664,117
Ensembl chr 3:12,582,101...12,664,201
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G |
RASGRP2 |
RAS guanyl releasing protein 2 |
|
IAGP |
ClinVar Annotator: match by term: Ependymoma |
ClinVar |
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NCBI chr11:64,726,911...64,745,456
Ensembl chr11:64,726,911...64,745,456
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G |
RASSF1 |
Ras association domain family member 1 |
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TAS |
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RGD |
PMID:17325427 |
RGD:2291979 |
NCBI chr 3:50,329,788...50,340,836
Ensembl chr 3:50,329,782...50,340,980
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G |
RCOR2 |
REST corepressor 2 |
|
IAGP |
ClinVar Annotator: match by term: Ependymoma |
ClinVar |
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NCBI chr11:63,911,230...63,927,762
Ensembl chr11:63,911,230...63,917,164
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G |
RELA |
RELA proto-oncogene, NF-kB subunit |
|
IAGP |
ClinVar Annotator: match by term: Ependymoma |
ClinVar |
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NCBI chr11:65,653,601...65,663,857
Ensembl chr11:65,653,599...65,663,090
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G |
RET |
ret proto-oncogene |
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IAGP |
ClinVar Annotator: match by term: Ependymoma |
ClinVar |
PMID:25741868 |
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NCBI chr10:43,077,069...43,130,351
Ensembl chr10:43,077,064...43,130,351
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G |
RNF43 |
ring finger protein 43 |
exacerbates |
IEP |
protein:decreased expression:brain, brainstem (human) |
RGD |
PMID:25755738 |
RGD:151361124 |
NCBI chr17:58,352,500...58,417,534
Ensembl chr17:58,353,676...58,417,595
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G |
ROS1 |
ROS proto-oncogene 1, receptor tyrosine kinase |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19276365 |
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NCBI chr 6:117,287,353...117,425,942
Ensembl chr 6:117,287,353...117,425,942
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G |
RPS6KA4 |
ribosomal protein S6 kinase A4 |
|
IAGP |
ClinVar Annotator: match by term: Ependymoma |
ClinVar |
|
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NCBI chr11:64,359,162...64,372,215
Ensembl chr11:64,359,148...64,372,215
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G |
RTEL1 |
regulator of telomere elongation helicase 1 |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19578366 PMID:19578367 |
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NCBI chr20:63,657,810...63,696,253
Ensembl chr20:63,657,810...63,696,253
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G |
SAC3D1 |
SAC3 domain containing 1 |
|
IAGP |
ClinVar Annotator: match by term: Ependymoma |
ClinVar |
|
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NCBI chr11:65,040,933...65,044,828
Ensembl chr11:65,040,901...65,044,828
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G |
SCYL1 |
SCY1 like pseudokinase 1 |
|
IAGP |
ClinVar Annotator: match by term: Ependymoma |
ClinVar |
|
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NCBI chr11:65,525,083...65,538,704
Ensembl chr11:65,525,077...65,538,704
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G |
SERPINE1 |
serpin family E member 1 |
|
IEP |
protein:increased expression:plasma |
RGD |
PMID:14977830 |
RGD:13208546 |
NCBI chr 7:101,127,104...101,139,247
Ensembl chr 7:101,127,104...101,139,247
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G |
SETD9 |
SET domain containing 9 |
|
IAGP |
ClinVar Annotator: match by term: Ependymoma |
ClinVar |
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NCBI chr 5:56,909,260...56,928,900
Ensembl chr 5:56,909,260...56,925,532
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G |
SETDB1 |
SET domain bifurcated histone lysine methyltransferase 1 |
severity |
IEP |
protein:increased expression:brain, cell nucleus (human) |
RGD |
PMID:23943221 |
RGD:9590166 |
NCBI chr 1:150,926,263...150,964,737
Ensembl chr 1:150,926,263...150,964,744
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G |
SF1 |
splicing factor 1 |
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IAGP |
ClinVar Annotator: match by term: Ependymoma |
ClinVar |
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NCBI chr11:64,764,606...64,778,542
Ensembl chr11:64,764,606...64,778,786
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G |
SH3GL1 |
SH3 domain containing GRB2 like 1, endophilin A2 |
disease_progression severity |
IDA ISO IEP |
protein:increased expression:cytoplasm,white matter: |
RGD |
PMID:23050879 PMID:23050879 PMID:23050879 |
RGD:13463483, RGD:13463483, RGD:13463483 |
NCBI chr19:4,360,370...4,400,547
Ensembl chr19:4,360,370...4,400,547
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G |
SH3TC2 |
SH3 domain and tetratricopeptide repeats 2 |
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IAGP |
ClinVar Annotator: match by term: Ependymoma |
ClinVar |
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NCBI chr 5:148,982,150...149,063,062
Ensembl chr 5:148,923,639...149,063,163
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G |
SIPA1 |
signal-induced proliferation-associated 1 |
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IAGP |
ClinVar Annotator: match by term: Ependymoma |
ClinVar |
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NCBI chr11:65,638,101...65,650,912
Ensembl chr11:65,638,101...65,650,918
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G |
SIRT2 |
sirtuin 2 |
treatment |
ISO |
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RGD |
PMID:23522375 |
RGD:9586035 |
NCBI chr19:38,878,555...38,899,618
Ensembl chr19:38,878,555...38,899,862
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G |
SLC22A11 |
solute carrier family 22 member 11 |
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IAGP |
ClinVar Annotator: match by term: Ependymoma |
ClinVar |
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NCBI chr11:64,555,941...64,572,875
Ensembl chr11:64,555,690...64,572,875
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G |
SLC22A12 |
solute carrier family 22 member 12 |
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IAGP |
ClinVar Annotator: match by term: Ependymoma |
ClinVar |
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NCBI chr11:64,591,220...64,602,344
Ensembl chr11:64,590,641...64,602,353
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G |
SLC25A45 |
solute carrier family 25 member 45 |
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IAGP |
ClinVar Annotator: match by term: Ependymoma |
ClinVar |
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NCBI chr11:65,375,192...65,383,701
Ensembl chr11:65,375,192...65,383,701
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G |
SLC39A11 |
solute carrier family 39 member 11 |
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IAGP |
ClinVar Annotator: match by term: Ependymoma |
ClinVar |
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NCBI chr17:72,645,949...73,092,688
Ensembl chr17:72,645,949...73,092,712
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G |
SLC44A1 |
solute carrier family 44 member 1 |
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IAGP |
DNA:gene fusion: : |
RGD |
PMID:26671581 |
RGD:11087038 |
NCBI chr 9:105,244,651...105,438,504
Ensembl chr 9:105,244,622...105,439,171
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G |
SLC5A5 |
solute carrier family 5 member 5 |
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EXP |
CTD Direct Evidence: therapeutic |
CTD |
PMID:12489024 |
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NCBI chr19:17,871,945...17,895,174
Ensembl chr19:17,871,945...17,895,174
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G |
SLC6A3 |
solute carrier family 6 member 3 |
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ISO |
protein:decreased expression |
RGD |
PMID:14698456 |
RGD:1625668 |
NCBI chr 5:1,392,794...1,445,440
Ensembl chr 5:1,392,794...1,445,440
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G |
SLC7A5 |
solute carrier family 7 member 5 |
ameliorates |
ISO |
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RGD |
PMID:16496379 |
RGD:151361115 |
NCBI chr16:87,830,023...87,869,507
Ensembl chr16:87,830,023...87,869,507
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G |
SNX15 |
sorting nexin 15 |
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IAGP |
ClinVar Annotator: match by term: Ependymoma |
ClinVar |
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NCBI chr11:65,027,439...65,040,572
Ensembl chr11:65,027,439...65,040,572
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G |
SOD1 |
superoxide dismutase 1 |
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EXP |
CTD Direct Evidence: therapeutic |
CTD |
PMID:11861405 |
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NCBI chr21:31,659,693...31,668,931
Ensembl chr21:31,659,666...31,668,931
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G |
SOX6 |
SRY-box transcription factor 6 |
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IDA |
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RGD |
PMID:15696967 |
RGD:1580007 |
NCBI chr11:15,966,449...16,738,477
Ensembl chr11:15,966,449...16,739,591
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G |
SPDYC |
speedy/RINGO cell cycle regulator family member C |
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IAGP |
ClinVar Annotator: match by term: Ependymoma |
ClinVar |
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NCBI chr11:65,170,233...65,173,374
Ensembl chr11:65,170,233...65,173,374
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G |
SPHK1 |
sphingosine kinase 1 |
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ISO |
protein:increased expression:endothelial cell (rat) |
RGD |
PMID:17316399 |
RGD:2311379 |
NCBI chr17:76,383,204...76,387,855
Ensembl chr17:76,376,584...76,387,860
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G |
SPINDOC |
spindlin interactor and repressor of chromatin binding |
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IAGP |
ClinVar Annotator: match by term: Ependymoma |
ClinVar |
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NCBI chr11:63,813,456...63,827,716
Ensembl chr11:63,813,456...63,827,716
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G |
SPP1 |
secreted phosphoprotein 1 |
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ISO EXP |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:16651633 PMID:16651633 |
RGD:1581321 |
NCBI chr 4:87,975,714...87,983,411
Ensembl chr 4:87,975,667...87,983,532
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G |
SPRY3 |
sprouty RTK signaling antagonist 3 |
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IAGP |
ClinVar Annotator: match by term: Ependymoma |
ClinVar |
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NCBI chr X:155,612,586...155,782,459 NCBI chr Y:56,923,423...56,968,979
Ensembl chr X:155,612,572...155,782,459
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G |
ST6GAL1 |
ST6 beta-galactoside alpha-2,6-sialyltransferase 1 |
treatment |
ISO |
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RGD |
PMID:11559557 |
RGD:10043143 |
NCBI chr 3:186,930,526...187,078,553
Ensembl chr 3:186,930,325...187,078,553
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G |
STIP1 |
stress induced phosphoprotein 1 |
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IAGP |
ClinVar Annotator: match by term: Ependymoma |
ClinVar |
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NCBI chr11:64,185,272...64,204,543
Ensembl chr11:64,185,272...64,204,543
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G |
STMN1 |
stathmin 1 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17440165 |
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NCBI chr 1:25,884,179...25,906,880
Ensembl chr 1:25,884,181...25,906,991
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G |
SUV39H1 |
SUV39H1 histone lysine methyltransferase |
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IAGP |
ClinVar Annotator: match by term: Ependymoma |
ClinVar |
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NCBI chr X:48,695,554...48,709,016
Ensembl chr X:48,695,554...48,709,016
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G |
SUZ12 |
SUZ12 polycomb repressive complex 2 subunit |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25119042 |
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NCBI chr17:31,937,007...32,001,038
Ensembl chr17:31,937,007...32,001,038
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G |
SYNE1 |
spectrin repeat containing nuclear envelope protein 1 |
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IAGP |
ClinVar Annotator: match by term: Ependymoma |
ClinVar |
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NCBI chr 6:152,121,687...152,637,362
Ensembl chr 6:152,121,687...152,637,801
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G |
SYVN1 |
synoviolin 1 |
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IAGP |
ClinVar Annotator: match by term: Ependymoma |
ClinVar |
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NCBI chr11:65,127,279...65,134,519
Ensembl chr11:65,121,780...65,134,532
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G |
TASOR |
transcription activation suppressor |
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IAGP |
ClinVar Annotator: match by term: Ependymoma |
ClinVar |
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NCBI chr 3:56,620,132...56,683,265
Ensembl chr 3:56,620,132...56,683,265
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G |
TERT |
telomerase reverse transcriptase |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18021753 PMID:19578367 |
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NCBI chr 5:1,253,167...1,295,068
Ensembl chr 5:1,253,147...1,295,068
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G |
TFRC |
transferrin receptor |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16904380 |
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NCBI chr 3:196,049,284...196,082,090
Ensembl chr 3:196,012,511...196,082,153
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G |
TIGD3 |
tigger transposable element derived 3 |
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IAGP |
ClinVar Annotator: match by term: Ependymoma |
ClinVar |
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NCBI chr11:65,354,751...65,357,613
Ensembl chr11:65,354,751...65,357,613
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G |
TM7SF2 |
transmembrane 7 superfamily member 2 |
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IAGP |
ClinVar Annotator: match by term: Ependymoma |
ClinVar |
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NCBI chr11:65,111,872...65,116,230
Ensembl chr11:65,111,845...65,116,384
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G |
TNC |
tenascin C |
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ISO |
protein:increased expression:brain |
RGD |
PMID:16928692 |
RGD:4889612 |
NCBI chr 9:115,019,575...115,118,157
Ensembl chr 9:115,019,575...115,118,207
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G |
TNF |
tumor necrosis factor |
treatment |
IMP EXP |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:22199285 PMID:11810046 |
RGD:10450725 |
NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336
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G |
TNFSF10 |
TNF superfamily member 10 |
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EXP |
CTD Direct Evidence: therapeutic |
CTD |
PMID:16820965 PMID:19229339 |
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NCBI chr 3:172,505,508...172,523,430
Ensembl chr 3:172,505,508...172,523,475
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G |
TOP2A |
DNA topoisomerase II alpha |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18402387 |
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NCBI chr17:40,388,525...40,417,896
Ensembl chr17:40,388,525...40,417,896
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G |
TP53 |
tumor protein p53 |
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IMP IAGP EXP ISO |
ClinVar Annotator: match by term: Brainstem glioma ClinVar Annotator: match by term: Glioma susceptibility 1 ClinVar Annotator: match by term: Astrocytoma ClinVar Annotator: match by term: Glioma susceptibility 2 CTD Direct Evidence: marker/mechanism |
ClinVar OMIM CTD RGD |
PMID:1200021 PMID:1359493 PMID:1467311 PMID:1565143 PMID:1565144 PMID:1591732 PMID:1631137 PMID:1683921 PMID:1915267 PMID:1975675 PMID:1978757 PMID:1999338 PMID:2046748 PMID:2259385 PMID:2750177 PMID:4122735 PMID:7565304 PMID:7732013 PMID:7783166 PMID:7887414 PMID:8023157 PMID:8062826 PMID:8099841 PMID:8118819 PMID:8164043 PMID:8242631 PMID:8242752 PMID:8308926 PMID:8401536 PMID:8423216 PMID:8425176 PMID:8479749 PMID:8527048 PMID:8550239 PMID:8633021 PMID:8718514 PMID:8756654 PMID:8825920 PMID:9047394 PMID:9150393 PMID:9218725 PMID:9242456 PMID:9290701 PMID:9364015 PMID:9399838 PMID:9407971 PMID:9446663 PMID:9525742 PMID:9536098 PMID:9546439 PMID:9569050 PMID:9572492 PMID:9598730 PMID:9607760 PMID:9627118 PMID:9632751 PMID:9662334 PMID:9667734 PMID:9681828 PMID:9704930 PMID:9825943 PMID:9891044 PMID:10089074 PMID:10411893 PMID:10432928 PMID:10519380 PMID:10557074 PMID:10567903 PMID:10589545 PMID:10761705 PMID:10797439 PMID:10802655 PMID:10864200 PMID:10871862 PMID:10922393 PMID:11051239 PMID:11101847 PMID:11139324 PMID:11180592 PMID:11370630 PMID:11403041 PMID:11420676 PMID:11429700 PMID:11429705 PMID:11479205 PMID:11593407 PMID:11782540 PMID:11793474 PMID:11896595 PMID:11920788 PMID:11920959 PMID:12007217 PMID:12019170 PMID:12567188 PMID:12619118 PMID:12672316 PMID:12826609 PMID:12885464 PMID:12917626 PMID:14559903 PMID:14743206 PMID:15004724 PMID:15017592 PMID:15037740 PMID:15077194 PMID:15355915 PMID:15381368 PMID:15390294 PMID:15541116 PMID:15580553 PMID:15607980 PMID:15607981 PMID:15722483 PMID:15781620 PMID:15825182 PMID:15925506 PMID:15951970 PMID:15977174 PMID:16199549 PMID:16258005 PMID:16312222 PMID:16401470 PMID:16474844 PMID:16489069 PMID:16494995 PMID:16508005 PMID:16551709 PMID:16682957 PMID:16818505 PMID:16861262 PMID:16899598 PMID:16964264 PMID:16969106 PMID:17015838 PMID:17308077 PMID:17311302 PMID:17390010 PMID:17401428 PMID:17417627 PMID:17427234 PMID:17535973 PMID:17540308 PMID:17567834 PMID:17576681 PMID:17599946 PMID:17606709 PMID:17636407 PMID:17638920 PMID:17881637 PMID:18307025 PMID:18391940 PMID:18511570 PMID:18628487 PMID:18685109 PMID:19101993 PMID:19127115 PMID:19336573 PMID:19367569 PMID:19378321 PMID:19454241 PMID:19468865 PMID:19521721 PMID:19556618 PMID:19711436 PMID:19714490 PMID:19881536 PMID:20013323 PMID:20028212 PMID:20113312 PMID:20127978 PMID:20128691 PMID:20308654 PMID:20407015 PMID:20436704 PMID:20471942 PMID:20506564 PMID:20516128 PMID:20520810 PMID:20522432 PMID:20589832 PMID:20593220 PMID:20689556 PMID:20693561 PMID:20805372 PMID:21056685 PMID:21059199 PMID:21118481 PMID:21187651 PMID:21232794 PMID:21305319 PMID:21343334 PMID:21348412 PMID:21356188 PMID:21445056 PMID:21483000 PMID:21484931 PMID:21514416 PMID:21519010 PMID:21535297 PMID:21552135 PMID:21601526 PMID:21619694 PMID:21665182 PMID:21672450 PMID:21747090 PMID:21761402 PMID:21946351 PMID:22006311 PMID:22052707 PMID:22109999 PMID:22110706 PMID:22114072 PMID:22170717 PMID:22186996 PMID:22233476 PMID:22265402 PMID:22354696 PMID:22484423 PMID:22672556 PMID:22698404 PMID:22703879 PMID:22713868 PMID:22729912 PMID:22744426 PMID:22811390 PMID:22822097 PMID:22869713 PMID:22887876 PMID:22899716 PMID:22915647 PMID:22919068 PMID:22923379 PMID:22955915 PMID:23031740 PMID:23161690 PMID:23172776 PMID:23246812 PMID:23259501 PMID:23263379 PMID:23406775 PMID:23484829 PMID:23538418 PMID:23624782 PMID:23630318 PMID:23667202 PMID:23792586 PMID:23887774 PMID:23950206 PMID:23967324 PMID:24033266 PMID:24038938 PMID:24065105 PMID:24122735 PMID:24224046 PMID:24381225 PMID:24382691 PMID:24487413 PMID:24501221 PMID:24573247 PMID:24603336 PMID:24641375 PMID:24651012 PMID:24651015 PMID:24677579 PMID:24702488 PMID:24705251 PMID:24728327 PMID:24744791 PMID:24810334 PMID:24835218 PMID:25059482 PMID:25119042 PMID:25119136 PMID:25157968 PMID:25256166 PMID:25339994 PMID:25404506 PMID:25503501 PMID:25516983 PMID:25525159 PMID:25533637 PMID:25584008 PMID:25612911 PMID:25637381 PMID:25741868 PMID:25757876 PMID:25787918 PMID:25896519 PMID:25925845 PMID:25927356 PMID:25945745 PMID:25952993 PMID:26014290 PMID:26024390 PMID:26205489 PMID:26225655 PMID:26230955 PMID:26332594 PMID:26425688 PMID:26467025 PMID:26585234 PMID:26619011 PMID:26681312 PMID:26718964 PMID:26786923 PMID:26787237 PMID:26822237 PMID:26845104 PMID:26911350 PMID:27022024 PMID:27153395 PMID:27189670 PMID:27276561 PMID:27328919 PMID:27374712 PMID:27463065 PMID:27501770 PMID:27516001 PMID:27533082 PMID:27616075 PMID:27621308 PMID:27680515 PMID:27683180 PMID:27714481 PMID:27724982 PMID:27873457 PMID:27895058 PMID:27959731 PMID:27993330 PMID:28152038 PMID:28279309 PMID:28349240 PMID:28356770 PMID:28369373 PMID:28453743 PMID:28472496 PMID:28492532 PMID:28724667 PMID:28861920 PMID:28873162 PMID:28973705 PMID:28975465 PMID:29025599 PMID:29070607 PMID:29478780 PMID:29489754 PMID:29752822 PMID:29753700 PMID:29875428 PMID:29979965 PMID:30076369 PMID:30107858 PMID:30128536 PMID:30216591 PMID:30224644 PMID:30287823 PMID:30311369 PMID:30327374 PMID:30352134 PMID:30630526 PMID:30709381 PMID:30720243 PMID:30730202 PMID:30816478 PMID:30840781 PMID:31016814 PMID:31105275 PMID:31119730 PMID:31127191 PMID:31206626 PMID:31296311 PMID:31300551 PMID:31742824 PMID:31748977 PMID:31775759 PMID:31882575 PMID:32000721 PMID:32156018 PMID:32187361 PMID:32295079 PMID:32475984 PMID:32658383 PMID:32817165 PMID:32888145 PMID:32906206 PMID:33087929 PMID:33163847 PMID:33208383 PMID:33245408 PMID:33257846 PMID:33300245 PMID:33372952 PMID:33471991 PMID:33633026 PMID:33674644 PMID:33840814 PMID:34240179 PMID:34299313 PMID:34529667 PMID:34675114 PMID:34709361 PMID:35938033 PMID:35974385 PMID:36329109 PMID:36988593 PMID:17599090 More...
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RGD:2290571 |
NCBI chr17:7,668,421...7,687,490
Ensembl chr17:7,661,779...7,687,538
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G |
TRAF3 |
TNF receptor associated factor 3 |
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IAGP |
ClinVar Annotator: match by term: Ependymoma |
ClinVar |
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NCBI chr14:102,777,449...102,911,500
Ensembl chr14:102,777,449...102,911,500
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G |
TRIM29 |
tripartite motif containing 29 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30929997 |
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NCBI chr11:120,111,286...120,138,113
Ensembl chr11:120,111,286...120,185,529
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G |
TRMT112 |
tRNA methyltransferase activator subunit 11-2 |
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IAGP |
ClinVar Annotator: match by term: Ependymoma |
ClinVar |
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NCBI chr11:64,316,460...64,318,596
Ensembl chr11:64,316,460...64,317,559
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G |
TRPM1 |
transient receptor potential cation channel subfamily M member 1 |
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IAGP |
ClinVar Annotator: match by term: Ependymoma |
ClinVar |
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NCBI chr15:31,001,065...31,161,160
Ensembl chr15:31,001,065...31,161,160
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G |
TRPT1 |
tRNA phosphotransferase 1 |
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IAGP |
ClinVar Annotator: match by term: Ependymoma |
ClinVar |
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NCBI chr11:64,223,799...64,226,257
Ensembl chr11:64,223,799...64,226,254
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G |
TRPV4 |
transient receptor potential cation channel subfamily V member 4 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:33629929 |
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NCBI chr12:109,783,087...109,833,398
Ensembl chr12:109,783,087...109,833,406
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G |
TSC1 |
TSC complex subunit 1 |
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IAGP |
ClinVar Annotator: match by term: Astrocytoma |
ClinVar |
PMID:25741868 |
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NCBI chr 9:132,891,349...132,945,378
Ensembl chr 9:132,891,348...132,946,874
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G |
TXNRD2 |
thioredoxin reductase 2 |
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IAGP |
ClinVar Annotator: match by term: Ependymoma |
ClinVar |
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NCBI chr22:19,875,522...19,941,818
Ensembl chr22:19,875,517...19,941,820
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G |
VBP1 |
VHL binding protein 1 |
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IAGP |
ClinVar Annotator: match by term: Ependymoma |
ClinVar |
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NCBI chr X:155,197,007...155,239,841
Ensembl chr X:155,197,007...155,239,841
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G |
VEGFB |
vascular endothelial growth factor B |
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IAGP |
ClinVar Annotator: match by term: Ependymoma |
ClinVar |
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NCBI chr11:64,234,584...64,239,264
Ensembl chr11:64,234,584...64,239,264
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G |
VPS51 |
VPS51 subunit of GARP complex |
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IAGP |
ClinVar Annotator: match by term: Ependymoma |
ClinVar |
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NCBI chr11:65,096,214...65,111,862
Ensembl chr11:65,089,324...65,111,862
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G |
XAF1 |
XIAP associated factor 1 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28122345 |
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NCBI chr17:6,755,447...6,775,647
Ensembl chr17:6,755,447...6,775,647
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G |
XBP1 |
X-box binding protein 1 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21138464 |
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NCBI chr22:28,794,560...28,800,569
Ensembl chr22:28,794,555...28,800,597
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G |
XRCC1 |
X-ray repair cross complementing 1 |
susceptibility |
EXP IAGP |
CTD Direct Evidence: marker/mechanism DNA:SNP:cd: p.Q399R (rs25487) (human) |
CTD RGD |
PMID:25227852 PMID:23534771 |
RGD:401850601 |
NCBI chr19:43,543,311...43,575,527
Ensembl chr19:43,543,311...43,580,473
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G |
XRCC3 |
X-ray repair cross complementing 3 |
susceptibility |
IAGP |
DNA:SNP:cd: p.T241M (rs861539) (Human) |
RGD |
PMID:23534771 |
RGD:401850601 |
NCBI chr14:103,697,617...103,715,451
Ensembl chr14:103,697,609...103,715,504
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G |
YEATS4 |
YEATS domain containing 4 |
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ISO |
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RGD |
PMID:11521196 |
RGD:1598696 |
NCBI chr12:69,359,743...69,427,072
Ensembl chr12:69,359,710...69,390,870
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G |
ZFPL1 |
zinc finger protein like 1 |
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IAGP |
ClinVar Annotator: match by term: Ependymoma |
ClinVar |
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NCBI chr11:65,084,222...65,088,398
Ensembl chr11:65,084,210...65,088,398
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G |
ZFTA |
zinc finger translocation associated |
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IAGP |
ClinVar Annotator: match by term: Ependymoma |
ClinVar |
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NCBI chr11:63,759,892...63,768,775
Ensembl chr11:63,759,892...63,768,775
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G |
ZNHIT2 |
zinc finger HIT-type containing 2 |
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IAGP |
ClinVar Annotator: match by term: Ependymoma |
ClinVar |
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NCBI chr11:65,116,403...65,117,701
Ensembl chr11:65,116,403...65,117,701
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G |
ZNRD2 |
zinc ribbon domain containing 2 |
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IAGP |
ClinVar Annotator: match by term: Ependymoma |
ClinVar |
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NCBI chr11:65,570,477...65,571,888
Ensembl chr11:65,570,460...65,573,942
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G |
MMP1 |
matrix metallopeptidase 1 |
susceptibility |
IAGP |
DNA:insertion:promoter:g.-1607insG (human) |
RGD |
PMID:17502998 |
RGD:7207034 |
NCBI chr11:102,789,919...102,798,160
Ensembl chr11:102,789,401...102,798,160
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G |
CHD6 |
chromodomain helicase DNA binding protein 6 |
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IAGP |
ClinVar Annotator: match by term: Adult Spinal Cord Ependymoma |
ClinVar |
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NCBI chr20:41,402,083...41,618,377
Ensembl chr20:41,402,083...41,618,384
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G |
ATRX |
ATRX chromatin remodeler |
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IAGP |
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:77,504,880...77,786,216
Ensembl chr X:77,504,880...77,786,233
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G |
KRAS |
KRAS proto-oncogene, GTPase |
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IEP |
mRNA:decreased expression:brain |
RGD |
PMID:19179066 |
RGD:13702872 |
NCBI chr12:25,205,246...25,250,929
Ensembl chr12:25,205,246...25,250,936
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G |
TP53 |
tumor protein p53 |
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IAGP |
ClinVar Annotator: match by term: Astrocytoma, anaplastic |
ClinVar |
PMID:1349175 PMID:1565143 PMID:1565144 PMID:1591732 PMID:1631137 PMID:2046748 PMID:4122735 PMID:7565304 PMID:7783166 PMID:8401536 PMID:8402598 PMID:8425176 PMID:8550239 PMID:8718514 PMID:8829627 PMID:9218725 PMID:9242456 PMID:9364015 PMID:9667734 PMID:10519380 PMID:10922393 PMID:11370630 PMID:11782540 PMID:12826609 PMID:12885464 PMID:12917626 PMID:15722483 PMID:15781620 PMID:15925506 PMID:15951970 PMID:15958617 PMID:16206219 PMID:16401470 PMID:16494995 PMID:16551709 PMID:16818505 PMID:17015838 PMID:17311302 PMID:17606709 PMID:18511570 PMID:19012332 PMID:19468865 PMID:20128691 PMID:20407015 PMID:20522432 PMID:21059199 PMID:21305319 PMID:21343334 PMID:21519010 PMID:21761402 PMID:22186996 PMID:22672556 PMID:22915647 PMID:23161690 PMID:23246812 PMID:23538418 PMID:24033266 PMID:24122735 PMID:24573247 PMID:24835218 PMID:24857548 PMID:25157968 PMID:25186627 PMID:25584008 PMID:25619955 PMID:25741868 PMID:25952993 PMID:26014290 PMID:26205489 PMID:26225655 PMID:26230955 PMID:26585234 PMID:26619011 PMID:26786923 PMID:26845104 PMID:26878390 PMID:26911350 PMID:27077130 PMID:27276561 PMID:27463065 PMID:27621308 PMID:27680515 PMID:27895058 PMID:27959731 PMID:28369373 PMID:28472496 PMID:28492532 PMID:28975465 PMID:29581140 PMID:29979965 PMID:30224644 PMID:30327374 PMID:30709381 PMID:30816478 PMID:32000721 PMID:32156018 PMID:32475984 PMID:32817165 PMID:32888145 PMID:33163847 PMID:33245408 PMID:33407742 PMID:33840814 PMID:34529667 PMID:34709361 PMID:35974385 PMID:36988593 More...
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NCBI chr17:7,668,421...7,687,490
Ensembl chr17:7,661,779...7,687,538
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G |
PALB2 |
partner and localizer of BRCA2 |
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IAGP |
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 chr16:23,603,165...23,641,310
Ensembl chr16:23,603,160...23,641,321
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G |
RNF213 |
ring finger protein 213 |
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IAGP |
ClinVar Annotator: match by term: Anaplastic ependymoma |
ClinVar |
PMID:26822237 |
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NCBI chr17:80,260,852...80,398,794
Ensembl chr17:80,260,852...80,398,794
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G |
RNF213-AS1 |
RNF213 antisense RNA 1 |
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IAGP |
ClinVar Annotator: match by term: Anaplastic ependymoma |
ClinVar |
PMID:26822237 |
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NCBI chr17:80,351,830...80,415,168
Ensembl chr17:80,351,828...80,415,168
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G |
RUNX1 |
RUNX family transcription factor 1 |
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IAGP |
ClinVar Annotator: match by term: Anaplastic ependymoma |
ClinVar |
PMID:23753029 PMID:25741868 PMID:26580448 PMID:28492532 PMID:28801348 PMID:29365323 More...
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NCBI chr21:34,787,801...35,049,302
Ensembl chr21:34,787,801...36,004,667
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G |
CIC |
capicua transcriptional repressor |
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IAGP |
ClinVar Annotator: match by term: Oligodendroglioma, anaplastic |
ClinVar |
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NCBI chr19:42,268,530...42,295,796
Ensembl chr19:42,268,537...42,295,797
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G |
MIR542 |
microRNA 542 |
disease_progression |
IEP |
|
RGD |
PMID:26286747 |
RGD:13782052 |
NCBI chr X:134,541,341...134,541,437
Ensembl chr X:134,541,341...134,541,437
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G |
PIK3R1 |
phosphoinositide-3-kinase regulatory subunit 1 |
severity |
IMP IEP |
|
RGD |
PMID:26956052 PMID:26286747 |
RGD:11343921, RGD:13782052 |
NCBI chr 5:68,215,756...68,301,821
Ensembl chr 5:68,215,740...68,301,821
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G |
ATM |
ATM serine/threonine kinase |
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IAGP |
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 chr11:108,223,067...108,369,102
Ensembl chr11:108,222,823...108,369,102
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G |
C11orf65 |
chromosome 11 open reading frame 65 |
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IAGP |
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 chr11:108,308,519...108,469,881
Ensembl chr11:108,308,519...108,467,531
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G |
TSC2 |
TSC complex subunit 2 |
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IAGP |
ClinVar Annotator: match by term: Astroblastoma, MN1-altered |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr16:2,047,985...2,089,491
Ensembl chr16:2,047,967...2,089,491
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G |
EEF2 |
eukaryotic translation elongation factor 2 |
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IEP |
protein:increased expression:brain (human) |
RGD |
PMID:24589652 |
RGD:153297816 |
NCBI chr19:3,976,056...3,985,463
Ensembl chr19:3,976,056...3,985,463
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G |
MIR139 |
microRNA 139 |
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IEP |
RNA:decreased expression:brain: |
RGD |
PMID:26449464 |
RGD:13838722 |
NCBI chr11:72,615,063...72,615,130
Ensembl chr11:72,615,063...72,615,130
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G |
NCAM1 |
neural cell adhesion molecule 1 |
disease_progression |
IEP |
|
RGD |
PMID:20219118 |
RGD:40924672 |
NCBI chr11:112,961,420...113,278,436
Ensembl chr11:112,961,275...113,278,436
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G |
SUFU |
SUFU negative regulator of hedgehog signaling |
|
IEP |
human, rat, and/or mouse glioma cells in a mouse model |
RGD |
PMID:30790292 |
RGD:150573813 |
NCBI chr10:102,502,819...102,633,535
Ensembl chr10:102,503,972...102,633,535
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G |
ADAM3A |
ADAM metallopeptidase domain 3A (pseudogene) |
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IAGP |
DNA:deletion |
RGD |
PMID:21138945 |
RGD:13831351 |
NCBI chr 8:39,451,045...39,522,989
Ensembl chr 8:39,451,045...39,522,852 Ensembl chr 8:39,451,045...39,522,852
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G |
BAX |
BCL2 associated X, apoptosis regulator |
treatment |
ISO |
|
RGD |
PMID:27255231 PMID:29324390 |
RGD:13792502, RGD:13792598 |
NCBI chr19:48,954,875...48,961,798
Ensembl chr19:48,954,815...48,961,798
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G |
BCL2 |
BCL2 apoptosis regulator |
treatment |
ISO |
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RGD |
PMID:27255231 PMID:29324390 |
RGD:13792502, RGD:13792598 |
NCBI chr18:63,123,346...63,320,090
Ensembl chr18:63,123,346...63,320,128
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G |
BIRC3 |
baculoviral IAP repeat containing 3 |
exacerbates |
HEP |
mRNA:increased expression:brain (human) |
RGD |
PMID:31964418 |
RGD:153344516 |
NCBI chr11:102,317,484...102,339,403
Ensembl chr11:102,317,484...102,339,403
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G |
BIRC5 |
baculoviral IAP repeat containing 5 |
exacerbates |
HEP |
mRNA:increased expression:brain (human) |
RGD |
PMID:31964418 |
RGD:153344516 |
NCBI chr17:78,214,253...78,225,635
Ensembl chr17:78,214,186...78,225,636
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G |
BST2 |
bone marrow stromal cell antigen 2 |
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ISO |
mRNA,protein:increased expression:brain: |
RGD |
PMID:21565182 |
RGD:14398497 |
NCBI chr19:17,402,939...17,405,630
Ensembl chr19:17,402,939...17,405,630
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G |
CASP3 |
caspase 3 |
treatment |
ISO |
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RGD |
PMID:29324390 |
RGD:13792598 |
NCBI chr 4:184,627,696...184,649,447
Ensembl chr 4:184,627,696...184,650,062
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G |
FADD |
Fas associated via death domain |
treatment |
ISO |
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RGD |
PMID:27255231 |
RGD:13792502 |
NCBI chr11:70,203,296...70,207,390
Ensembl chr11:70,203,296...70,207,390
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G |
FAS |
Fas cell surface death receptor |
treatment |
ISO |
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RGD |
PMID:29324390 |
RGD:13792598 |
NCBI chr10:88,964,050...89,017,059
Ensembl chr10:88,953,813...89,029,605
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G |
FASLG |
Fas ligand |
treatment |
ISO |
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RGD |
PMID:29324390 |
RGD:13792598 |
NCBI chr 1:172,659,103...172,666,876
Ensembl chr 1:172,659,103...172,666,876
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G |
FOXA1 |
forkhead box A1 |
disease_progression |
IEP |
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RGD |
PMID:23510544 |
RGD:151665742 |
NCBI chr14:37,589,552...37,595,249
Ensembl chr14:37,589,552...37,596,059
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G |
GAPDH |
glyceraldehyde-3-phosphate dehydrogenase |
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ISO |
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RGD |
PMID:26032618 |
RGD:13792685 |
NCBI chr12:6,534,517...6,538,371
Ensembl chr12:6,534,512...6,538,374
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G |
KDR |
kinase insert domain receptor |
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IEP |
protein:increased expression:brain (human) |
RGD |
PMID:33900414 |
RGD:151660356 |
NCBI chr 4:55,078,481...55,125,595
Ensembl chr 4:55,078,481...55,125,595
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G |
MIR21 |
microRNA 21 |
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IEP |
human cells in mouse model; RNA:increased expression:brain (human) |
RGD |
PMID:25059666 |
RGD:152998875 |
NCBI chr17:59,841,266...59,841,337
Ensembl chr17:59,841,266...59,841,337
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G |
NAIP |
NLR family apoptosis inhibitory protein |
exacerbates |
HEP |
mRNA:increased expression:brain (human) |
RGD |
PMID:31964418 |
RGD:153344516 |
NCBI chr 5:70,968,166...71,025,339
Ensembl chr 5:70,968,166...71,025,339
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G |
PTPRB |
protein tyrosine phosphatase receptor type B |
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IEP IMP |
protein:increased expression:brain (human) human cell in mouse model |
RGD |
PMID:33900414 PMID:16923162 |
RGD:151660356, RGD:151660368 |
NCBI chr12:70,515,870...70,637,429
Ensembl chr12:70,515,870...70,637,440
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G |
VEGFA |
vascular endothelial growth factor A |
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IEP |
protein:increased expression:brain (human) |
RGD |
PMID:33900414 |
RGD:151660356 |
NCBI chr 6:43,770,211...43,786,487
Ensembl chr 6:43,770,184...43,786,487
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G |
XRCC1 |
X-ray repair cross complementing 1 |
susceptibility |
IAGP |
DNA:SNP:exon 10: p.R399Q (human) |
RGD |
PMID:18330515 |
RGD:401827274 |
NCBI chr19:43,543,311...43,575,527
Ensembl chr19:43,543,311...43,580,473
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G |
XRCC3 |
X-ray repair cross complementing 3 |
susceptibility |
IAGP |
DNA:SNP:exon 8: p.T241M (rs861539) (Human) |
RGD |
PMID:18330515 |
RGD:401827274 |
NCBI chr14:103,697,617...103,715,451
Ensembl chr14:103,697,609...103,715,504
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G |
PAX3 |
paired box 3 |
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ISO |
mRNA,protein:increased expression:brain stem: |
RGD |
PMID:25330836 |
RGD:13702891 |
NCBI chr 2:222,199,887...222,298,998
Ensembl chr 2:222,199,887...222,298,998
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G |
PDGFRA |
platelet derived growth factor receptor alpha |
severity |
IEP |
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RGD |
PMID:20197468 |
RGD:13702892 |
NCBI chr 4:54,229,293...54,298,245
Ensembl chr 4:54,229,280...54,298,245
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G |
MSH6 |
mutS homolog 6 |
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IAGP |
ClinVar Annotator: match by term: Cerebellar medulloblastoma |
ClinVar |
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NCBI chr 2:47,783,145...47,810,101
Ensembl chr 2:47,695,530...47,810,063
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G |
RTEL1 |
regulator of telomere elongation helicase 1 |
ameliorates susceptibility |
IAGP |
DNA:SNP:cds:rs6089953|rs6010620|rs2297440 (human) DNA:SNP:cds:rs4809324 (human) |
RGD |
PMID:26014354 PMID:26014354 |
RGD:152985535, RGD:152985535 |
NCBI chr20:63,657,810...63,696,253
Ensembl chr20:63,657,810...63,696,253
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G |
MAPK1 |
mitogen-activated protein kinase 1 |
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IEP |
protein:increased expression:brain: |
RGD |
PMID:21466243 |
RGD:13702864 |
NCBI chr22:21,759,657...21,867,680
Ensembl chr22:21,759,657...21,867,680
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G |
PRKCA |
protein kinase C alpha |
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IAGP |
DNA:mutation:cds:c.1387G>C,p.D463H(human) |
RGD |
PMID:29476136 |
RGD:13782058 |
NCBI chr17:66,302,613...66,810,743
Ensembl chr17:66,302,613...66,810,743
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G |
ACOD1 |
aconitate decarboxylase 1 |
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IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr13:76,948,511...76,958,638
Ensembl chr13:76,948,511...76,958,638
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G |
AL139082.1 |
novel transcript, antisense to NEK3 & NEK5 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr13:52,128,895...52,132,723
Ensembl chr13:52,128,891...52,132,723
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G |
AL353660.1 |
novel transcript |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr13:74,288,070...74,408,803
Ensembl chr13:74,288,070...74,408,810
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G |
AL355390.1 |
novel transcript |
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IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr13:74,412,957...74,419,115
Ensembl chr13:74,412,957...74,419,115
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G |
AL445209.1 |
novel transcript, antisense to POU4F1 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr13:78,596,122...78,599,619
Ensembl chr13:78,596,129...78,599,619
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G |
AL445238.1 |
keratin-associated protein 21-1 |
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IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr13:63,832,361...63,833,053
Ensembl chr13:63,832,361...63,833,531
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G |
AL445989.1 |
keratin-associated protein 21-1-like |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr13:63,746,741...63,748,176
Ensembl chr13:63,746,741...63,751,080
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G |
AL450447.1 |
putative UPF0607 protein ENSP00000383144 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr13:77,661,376...77,662,626
Ensembl chr13:77,661,376...77,662,626
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G |
ALG11 |
ALG11 alpha-1,2-mannosyltransferase |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
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NCBI chr13:52,012,398...52,033,600
Ensembl chr13:52,012,391...52,079,232
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G |
ARL11 |
ADP ribosylation factor like GTPase 11 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr13:49,628,507...49,633,872
Ensembl chr13:49,628,507...49,633,872
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G |
ATP7B |
ATPase copper transporting beta |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
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NCBI chr13:51,932,669...52,012,132
Ensembl chr13:51,930,436...52,012,125
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G |
ATXN8OS |
ATXN8 opposite strand lncRNA |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr13:70,107,421...70,171,738
Ensembl chr13:70,107,213...70,171,738
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G |
BORA |
BORA aurora kinase A activator |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
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NCBI chr13:72,727,923...72,756,196
Ensembl chr13:72,727,749...72,756,198
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G |
C13orf42 |
chromosome 13 open reading frame 42 |
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IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:51,082,119...51,172,388
Ensembl chr13:51,082,119...51,200,252
|
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G |
CAB39L |
calcium binding protein 39 like |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:49,308,650...49,444,064
Ensembl chr13:49,308,650...49,444,064
|
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G |
CCDC70 |
coiled-coil domain containing 70 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:51,861,969...51,866,232
Ensembl chr13:51,861,969...51,866,232
|
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G |
CDADC1 |
cytidine and dCMP deaminase domain containing 1 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:49,247,925...49,293,485
Ensembl chr13:49,247,925...49,293,485
|
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G |
CKAP2 |
cytoskeleton associated protein 2 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:52,455,478...52,476,627
Ensembl chr13:52,455,429...52,476,628
|
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G |
CKAP2-DT |
CKAP2 divergent transcript |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:52,454,775...52,455,346
Ensembl chr13:52,454,774...52,455,392
|
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G |
CLN5 |
CLN5 intracellular trafficking protein |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:76,992,081...77,005,117
Ensembl chr13:76,990,660...77,019,143
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G |
CNMD |
chondromodulin |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:52,703,264...52,739,820
Ensembl chr13:52,703,264...52,739,820
|
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G |
COMMD6 |
COMM domain containing 6 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:75,525,214...75,549,439
Ensembl chr13:75,525,214...75,549,439
|
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G |
CYSLTR2 |
cysteinyl leukotriene receptor 2 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:48,653,929...48,711,226
Ensembl chr13:48,653,711...48,711,226
|
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G |
DACH1 |
dachshund family transcription factor 1 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:71,437,966...71,867,204
Ensembl chr13:71,437,966...71,867,204
|
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G |
DHRS12 |
dehydrogenase/reductase 12 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:51,754,854...51,804,163
Ensembl chr13:51,767,993...51,804,163
|
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G |
DIAPH3 |
diaphanous related formin 3 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:59,665,583...60,163,928
Ensembl chr13:59,665,583...60,163,928
|
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G |
DIAPH3-AS1 |
DIAPH3 antisense RNA 1 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:60,012,718...60,044,357
Ensembl chr13:60,012,734...60,044,357
|
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G |
DIAPH3-AS2 |
DIAPH3 antisense RNA 2 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
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NCBI chr13:60,144,698...60,153,505
Ensembl chr13:60,144,648...60,153,678
|
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G |
DIS3 |
DIS3 homolog, exosome endoribonuclease and 3'-5' exoribonuclease |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:72,752,169...72,781,900
Ensembl chr13:72,752,169...72,782,096
|
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G |
DLEU1 |
deleted in lymphocytic leukemia 1 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:50,082,169...50,528,643
Ensembl chr13:50,082,169...50,906,856
|
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G |
DLEU1-AS1 |
DLEU1 antisense RNA 1 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:50,520,933...50,527,449
Ensembl chr13:50,519,364...50,843,939
|
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G |
DLEU2 |
deleted in lymphocytic leukemia 2 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:49,982,549...50,125,541
Ensembl chr13:49,956,670...50,125,720
|
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G |
DLEU7 |
deleted in lymphocytic leukemia 7 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:50,711,026...50,843,939
Ensembl chr13:50,519,364...50,843,939
|
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G |
DLEU7-AS1 |
DLEU7 antisense RNA 1 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:50,807,855...50,849,905
Ensembl chr13:50,082,169...50,906,856
|
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G |
EBPL |
EBP like |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:49,660,674...49,691,487
Ensembl chr13:49,660,674...49,691,486
|
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G |
EDNRB |
endothelin receptor type B |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:77,895,481...77,975,527
Ensembl chr13:77,895,481...77,975,529
|
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G |
EDNRB-AS1 |
EDNRB antisense RNA 1 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:77,818,937...77,908,442
Ensembl chr13:77,779,723...77,844,145
|
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G |
FAM124A |
family with sequence similarity 124 member A |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:51,222,398...51,284,239
Ensembl chr13:51,222,334...51,284,239
|
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G |
FBXL3 |
F-box and leucine rich repeat protein 3 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:77,005,260...77,027,159
Ensembl chr13:76,992,598...77,027,195
|
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G |
FNDC3A |
fibronectin type III domain containing 3A |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:48,975,291...49,209,779
Ensembl chr13:48,975,912...49,209,779
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G |
HNRNPA1L2 |
heterogeneous nuclear ribonucleoprotein A1 like 2 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:52,617,525...52,643,773
Ensembl chr13:52,642,431...52,643,773
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G |
INTS6 |
integrator complex subunit 6 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:51,334,405...51,453,036
Ensembl chr13:51,354,077...51,454,264
|
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G |
INTS6-AS1 |
INTS6 antisense RNA 1 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:51,453,345...51,454,716
Ensembl chr13:51,452,364...51,554,678
|
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G |
ITM2B |
integral membrane protein 2B |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:48,233,206...48,270,357
Ensembl chr13:48,232,612...48,270,357
|
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G |
KCNRG |
potassium channel regulator |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:50,015,444...50,020,922
Ensembl chr13:50,015,254...50,020,922
|
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G |
KCTD12 |
potassium channel tetramerization domain containing 12 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:76,880,175...76,886,405
Ensembl chr13:76,880,175...76,886,405
|
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G |
KLF12 |
KLF transcription factor 12 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:73,686,089...74,306,045
Ensembl chr13:73,686,089...74,134,404
|
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G |
KLF5 |
KLF transcription factor 5 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:73,054,976...73,077,538
Ensembl chr13:73,054,976...73,077,541
|
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G |
KLHL1 |
kelch like family member 1 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:69,700,597...70,108,452
Ensembl chr13:69,700,594...70,108,493
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G |
KPNA3 |
karyopherin subunit alpha 3 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:49,699,320...49,792,682
Ensembl chr13:49,699,320...49,792,682
|
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G |
LINC00331 |
long intergenic non-protein coding RNA 331 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:78,787,319...78,840,050
Ensembl chr13:78,786,272...78,840,051
|
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G |
LINC00333 |
long intergenic non-protein coding RNA 333 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:84,140,602...84,606,768
Ensembl chr13:84,562,364...84,563,236
|
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G |
LINC00345 |
long intergenic non-protein coding RNA 345 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:52,482,482...52,600,607
Ensembl chr13:52,482,804...52,489,216
|
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G |
LINC00347 |
long intergenic non-protein coding RNA 347 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:74,552,843...74,557,120
Ensembl chr13:74,552,503...74,565,445
|
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G |
LINC00348 |
long intergenic non-protein coding RNA 348 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:71,015,141...71,168,417
Ensembl chr13:71,015,042...71,168,417
|
|
G |
LINC00351 |
long intergenic non-protein coding RNA 351 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:85,363,603...85,544,662
Ensembl chr13:85,363,601...85,544,570
|
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G |
LINC00355 |
long intergenic non-protein coding RNA 355 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:63,986,371...64,076,011
Ensembl chr13:63,851,197...64,076,044
|
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G |
LINC00358 |
long intergenic non-protein coding RNA 358 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:62,003,525...62,029,548
Ensembl chr13:61,997,136...62,029,572
|
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G |
LINC00364 |
long intergenic non-protein coding RNA 364 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:67,372,387...67,379,994
Ensembl chr13:67,326,177...67,379,994
|
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G |
LINC00374 |
long intergenic non-protein coding RNA 374 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:58,211,697...58,233,117
Ensembl chr13:58,211,697...58,233,117
|
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G |
LINC00375 |
long intergenic non-protein coding RNA 375 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:85,065,087...85,148,057
Ensembl chr13:85,065,087...85,078,920
|
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G |
LINC00376 |
long intergenic non-protein coding RNA 376 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:63,183,101...63,328,094
Ensembl chr13:63,183,096...63,328,129
|
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G |
LINC00377 |
long intergenic non-protein coding RNA 377 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:81,018,391...81,044,442
Ensembl chr13:81,018,176...81,044,691
|
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G |
LINC00378 |
long intergenic non-protein coding RNA 378 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:60,672,955...60,695,806
Ensembl chr13:60,618,991...61,176,758
|
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G |
LINC00381 |
long intergenic non-protein coding RNA 381 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:74,419,173...74,435,159
Ensembl chr13:74,419,158...74,444,735
|
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G |
LINC00382 |
long intergenic non-protein coding RNA 382 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:79,872,586...79,918,036
Ensembl chr13:79,872,586...79,918,042
|
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G |
LINC00383 |
long intergenic non-protein coding RNA 383 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:69,222,346...69,322,101
Ensembl chr13:69,221,866...69,322,190
|
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G |
LINC00392 |
long intergenic non-protein coding RNA 392 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
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NCBI chr13:73,564,244...73,587,879
Ensembl chr13:73,564,244...73,588,070
|
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G |
LINC00393 |
long intergenic non-protein coding RNA 393 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:73,545,901...73,661,903
Ensembl chr13:73,413,473...73,661,891
|
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G |
LINC00395 |
long intergenic non-protein coding RNA 395 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:63,667,682...63,738,018
Ensembl chr13:63,667,681...63,738,018
|
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G |
LINC00402 |
long intergenic non-protein coding RNA 402 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
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NCBI chr13:74,231,444...74,259,976
Ensembl chr13:74,231,401...74,259,976
|
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G |
LINC00430 |
long intergenic non-protein coding RNA 430 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:86,909,601...86,936,807
Ensembl chr13:86,909,586...86,937,108
|
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G |
LINC00434 |
long intergenic non-protein coding RNA 434 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:60,214,347...60,268,104
Ensembl chr13:60,214,352...60,214,946
|
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G |
LINC00444 |
long intergenic non-protein coding RNA 444 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:47,903,806...47,935,824
|
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G |
LINC00446 |
long intergenic non-protein coding RNA 446 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:78,012,883...78,053,595
Ensembl chr13:77,997,909...78,053,604
|
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G |
LINC00448 |
long intergenic non-protein coding RNA 448 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:62,672,285...62,807,359
Ensembl chr13:62,672,285...62,796,714
|
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G |
LINC00458 |
long intergenic non-protein coding RNA 458 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:54,124,324...54,132,871
Ensembl chr13:53,950,255...54,270,397
|
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G |
LINC00459 |
long intergenic non-protein coding RNA 459 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:62,323,657...62,328,847
Ensembl chr13:62,323,657...62,328,833
|
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G |
LINC00462 |
long intergenic non-protein coding RNA 462 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:48,576,974...48,580,901
Ensembl chr13:48,576,974...48,590,587
|
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G |
LINC00550 |
long intergenic non-protein coding RNA 550 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:68,861,284...68,885,325
Ensembl chr13:68,861,284...68,885,325
|
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G |
LINC00558 |
long intergenic non-protein coding RNA 558 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:53,815,419...53,876,119
Ensembl chr13:53,815,419...53,939,960
|
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G |
LINC00561 |
long intergenic non-protein coding RNA 561 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:75,932,398...75,935,132
Ensembl chr13:75,932,395...75,935,132
|
|
G |
LINC00562 |
long intergenic non-protein coding RNA 562 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:47,930,153...47,932,622
Ensembl chr13:47,930,153...47,932,622
|
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G |
LINC00564 |
long intergenic non-protein coding RNA 564 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:81,225,865...81,226,983
Ensembl chr13:81,225,865...81,226,983
|
|
G |
LINC01038 |
long intergenic non-protein coding RNA 1038 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:79,804,386...79,805,682
Ensembl chr13:79,804,418...79,805,685
|
|
G |
LINC01052 |
long intergenic non-protein coding RNA 1052 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:65,866,047...65,878,219
Ensembl chr13:65,866,070...65,922,731
|
|
G |
LINC01065 |
long intergenic non-protein coding RNA 1065 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:53,131,746...53,151,900
Ensembl chr13:53,099,397...53,151,914
|
|
G |
LINC01068 |
long intergenic non-protein coding RNA 1068 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:79,566,727...79,571,446
Ensembl chr13:79,566,678...79,571,445
|
|
G |
LINC01069 |
long intergenic non-protein coding RNA 1069 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:77,979,766...77,994,773
Ensembl chr13:77,979,817...77,997,881
|
|
G |
LINC01074 |
long intergenic non-protein coding RNA 1074 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:62,321,305...62,322,398
Ensembl chr13:62,321,305...62,322,398
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G |
LINC01075 |
long intergenic non-protein coding RNA 1075 |
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IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr13:62,212,282...62,249,951
Ensembl chr13:62,212,577...62,249,947
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G |
LINC01077 |
long intergenic non-protein coding RNA 1077 |
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IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr13:48,567,598...48,590,598
Ensembl chr13:48,570,639...48,573,317
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G |
LINC01078 |
long intergenic non-protein coding RNA 1078 |
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IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
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NCBI chr13:75,240,588...75,252,012
Ensembl chr13:75,250,480...75,252,012
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G |
LINC01080 |
long intergenic non-protein coding RNA 1080 |
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IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr13:80,011,077...80,026,663
Ensembl chr13:80,011,077...80,028,283
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G |
LINC01442 |
long intergenic non-protein coding RNA 1442 |
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IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr13:60,916,755...60,945,955
Ensembl chr13:60,916,981...60,945,955
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G |
LINC02333 |
long intergenic non-protein coding RNA 2333 |
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IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr13:52,334,295...52,341,883
Ensembl chr13:52,334,295...52,341,896
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G |
LINC02335 |
long intergenic non-protein coding RNA 2335 |
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IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr13:55,053,807...55,182,736
Ensembl chr13:55,062,945...55,161,490 Ensembl chr13:55,062,945...55,161,490
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G |
LINC02338 |
long intergenic non-protein coding RNA 2338 |
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IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr13:58,165,827...58,209,483
Ensembl chr13:58,165,827...58,209,483
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G |
LINC02339 |
long intergenic non-protein coding RNA 2339 |
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IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr13:61,424,689...61,427,946
Ensembl chr13:61,424,689...61,427,946
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G |
LMO7 |
LIM domain 7 |
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IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr13:75,620,434...75,859,870
Ensembl chr13:75,620,434...75,859,870
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G |
LMO7-AS1 |
LMO7 antisense RNA 1 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr13:75,604,700...75,635,994
Ensembl chr13:75,604,700...75,635,994
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G |
LMO7DN |
LMO7 downstream neighbor |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr13:75,871,038...75,883,813
Ensembl chr13:75,871,038...75,883,811
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G |
LMO7DN-IT1 |
LMO7DN intronic transcript 1 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr13:75,876,886...75,881,127
Ensembl chr13:75,876,886...75,881,127
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G |
LOC105370203 |
uncharacterized LOC105370203 |
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IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr13:49,235,513...49,247,840
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G |
LOC105370268 |
lncRNA-ACOD1 |
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IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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G |
LOC107457599 |
meiotic recombination hotspot P |
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IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr13:60,690,561...60,694,062
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G |
LOC107882127 |
EDNRB upstream promoter region |
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IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr13:77,975,613...77,976,074
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G |
LOC107882129 |
EDNRB proximal promoter region |
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IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr13:77,918,760...77,919,832
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G |
LOC109461478 |
ATXN8 opposite strand (non-protein coding) repeat instability region |
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IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr13:70,139,352...70,139,429
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G |
LOC110120827 |
VISTA enhancer hs126 |
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IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr13:70,769,477...70,770,782
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G |
LOC110120828 |
VISTA enhancer hs129 |
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IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr13:71,200,716...71,201,236
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G |
LOC110120829 |
VISTA enhancer hs131 |
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IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr13:72,197,133...72,199,738
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G |
LOC110120830 |
VISTA enhancer hs135 |
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IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr13:72,574,916...72,575,890
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G |
LOC110120831 |
VISTA enhancer hs137 |
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IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr13:71,726,717...71,728,802
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G |
LOC110120832 |
VISTA enhancer hs138 |
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IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr13:71,851,655...71,854,203
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G |
LOC110120833 |
VISTA enhancer hs141 |
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IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr13:72,426,945...72,428,915
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G |
LOC110120834 |
VISTA enhancer hs142 |
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IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr13:72,507,309...72,509,616
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G |
LOC110120843 |
VISTA enhancer hs188 |
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IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr13:71,771,848...71,774,098
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G |
LOC110120891 |
VISTA enhancer hs540 |
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IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr13:70,783,961...70,785,375
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G |
LOC110120897 |
VISTA enhancer hs575 |
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IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr13:67,854,985...67,856,394
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G |
LOC110120909 |
VISTA enhancer hs619 |
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IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr13:71,759,384...71,760,856
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G |
LOC110120945 |
VISTA enhancer hs881 |
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IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr13:66,035,667...66,036,616
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G |
LOC110120946 |
VISTA enhancer hs882 |
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IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr13:70,958,905...70,960,063
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G |
LOC110120950 |
VISTA enhancer hs915 |
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IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr13:78,401,880...78,403,203
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G |
LOC110121360 |
VISTA enhancer hs1394 |
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IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr13:77,831,993...77,833,579
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G |
LOC110121375 |
VISTA enhancer hs1471 |
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IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr13:79,658,111...79,660,495
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G |
LOC111365190 |
HNF1 motif-containing MPRA enhancer 52 |
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IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr13:74,227,924...74,228,068
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G |
LOC112163662 |
MED14-independent group 3 enhancer GRCh37_chr13:48640162-48641361 |
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IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr13:48,066,026...48,067,225
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G |
LOC112163663 |
Sharpr-MPRA regulatory region 2352 |
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IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr13:52,104,673...52,104,967
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G |
LOC112163664 |
Sharpr-MPRA regulatory region 8029 |
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IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr13:52,850,374...52,850,668
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G |
LOC112163665 |
Sharpr-MPRA regulatory region 4317 |
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IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr13:60,584,335...60,584,629
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G |
LOC112163666 |
Sharpr-MPRA regulatory region 1301 |
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IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr13:63,625,916...63,626,210
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G |
LOC112163667 |
Sharpr-MPRA regulatory region 14942 |
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IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr13:68,057,157...68,057,451
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G |
LOC112163668 |
P300/CBP strongly-dependent group 1 enhancer GRCh37_chr13:73663997-73665196 |
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IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr13:73,089,540...73,091,202
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G |
LOC112163669 |
Sharpr-MPRA regulatory region 11269 |
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IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr13:74,187,632...74,187,926
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G |
LOC112163670 |
Sharpr-MPRA regulatory region 2285 |
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IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr13:74,287,712...74,288,006
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G |
LOC112163671 |
Sharpr-MPRA regulatory region 1150 |
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IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr13:77,409,474...77,409,768
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G |
LOC112163672 |
Sharpr-MPRA regulatory region 2923 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
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NCBI chr13:84,399,374...84,399,668
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G |
LOC113939939 |
Sharpr-MPRA regulatory region 13963 |
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IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr13:49,301,133...49,301,427
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G |
LOC121466733 |
Sharpr-MPRA regulatory region 15313 |
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IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr13:52,569,894...52,570,188
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G |
LOC121468000 |
Sharpr-MPRA regulatory region 8019 |
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IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
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NCBI chr13:52,848,734...52,849,028
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G |
LOC121468001 |
Sharpr-MPRA regulatory region 7103 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
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NCBI chr13:85,277,774...85,278,068
|
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G |
LOC121838575 |
Sharpr-MPRA regulatory region 8262 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
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NCBI chr13:50,636,073...50,636,367
|
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G |
LOC121838576 |
Sharpr-MPRA regulatory region 10224 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
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NCBI chr13:52,087,833...52,088,127
|
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G |
LOC121838577 |
Sharpr-MPRA regulatory region 11905 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
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NCBI chr13:60,165,455...60,165,749
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G |
LOC121838578 |
Sharpr-MPRA regulatory region 561 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
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NCBI chr13:60,261,635...60,261,929
|
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G |
LOC121838579 |
Sharpr-MPRA regulatory region 6918 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
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NCBI chr13:64,871,677...64,871,971
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G |
LOC121838580 |
Sharpr-MPRA regulatory region 9192 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
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NCBI chr13:80,152,134...80,152,428
|
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G |
LOC124885095 |
Sharpr-MPRA regulatory region 5997 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
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NCBI chr13:48,094,313...48,094,607
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G |
LOC124885096 |
Sharpr-MPRA regulatory region 1366 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
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NCBI chr13:48,199,453...48,199,747
|
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G |
LOC124885097 |
Sharpr-MPRA regulatory region 13035 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
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NCBI chr13:48,586,633...48,586,927
|
|
G |
LOC124885098 |
Sharpr-MPRA regulatory region 6847 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
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NCBI chr13:49,303,673...49,303,967
|
|
G |
LOC124900138 |
Sharpr-MPRA regulatory region 6161 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
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NCBI chr13:49,633,733...49,634,027
|
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G |
LOC124900139 |
Sharpr-MPRA regulatory region 10165 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
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NCBI chr13:49,746,153...49,746,447
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|
G |
LOC124900140 |
Sharpr-MPRA regulatory region 13323 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
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NCBI chr13:49,976,693...49,976,987
|
|
G |
LOC124900141 |
Sharpr-MPRA regulatory region 84 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
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NCBI chr13:50,081,313...50,081,690
|
|
G |
LOC124900142 |
Sharpr-MPRA regulatory region 6827 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
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NCBI chr13:50,366,833...50,367,127
|
|
G |
LOC124900143 |
Sharpr-MPRA regulatory region 8165 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:51,255,593...51,255,887
|
|
G |
LOC124900144 |
Sharpr-MPRA regulatory region 8155 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:51,303,193...51,303,487
|
|
G |
LOC124900146 |
Sharpr-MPRA regulatory region 2859 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:51,672,193...51,672,487
|
|
G |
LOC124900147 |
Sharpr-MPRA regulatory region 15635 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:51,996,033...51,996,327
|
|
G |
LOC124900148 |
Sharpr-MPRA regulatory region 2809 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:52,161,294...52,161,588
|
|
G |
LOC124900149 |
Sharpr-MPRA regulatory region 6127 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:53,782,534...53,782,828
|
|
G |
LOC124900150 |
Sharpr-MPRA regulatory region 1645 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:55,517,374...55,517,668
|
|
G |
LOC124900151 |
Sharpr-MPRA regulatory region 559 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:55,661,414...55,661,708
|
|
G |
LOC124900152 |
Sharpr-MPRA regulatory region 3887 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:57,152,655...57,152,949
|
|
G |
LOC124900153 |
Sharpr-MPRA regulatory region 8499 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:57,492,435...57,492,729
|
|
G |
LOC124900154 |
Sharpr-MPRA regulatory region 8361 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:59,751,015...59,751,309
|
|
G |
LOC124900155 |
Sharpr-MPRA regulatory region 6777 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:60,765,955...60,766,249
|
|
G |
LOC124900156 |
Sharpr-MPRA regulatory region 11307 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:62,212,296...62,212,590
|
|
G |
LOC124900157 |
Sharpr-MPRA regulatory region 7190 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:64,054,356...64,054,650
|
|
G |
LOC124900158 |
Sharpr-MPRA regulatory region 870 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:64,758,577...64,758,871
|
|
G |
LOC124900159 |
Sharpr-MPRA regulatory region 7062 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:64,869,517...64,869,811
|
|
G |
LOC124900160 |
Sharpr-MPRA regulatory region 7593 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:65,638,477...65,638,771
|
|
G |
LOC124900161 |
Sharpr-MPRA regulatory region 12707 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:66,568,077...66,568,371
|
|
G |
LOC124909500 |
Sharpr-MPRA regulatory region 9294 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:67,754,817...67,755,111
|
|
G |
LOC124909501 |
Sharpr-MPRA regulatory region 6884 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:71,621,137...71,621,431
|
|
G |
LOC124909502 |
Sharpr-MPRA regulatory region 11619 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:75,349,653...75,349,947
|
|
G |
LOC124909503 |
Sharpr-MPRA regulatory region 14274 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:80,547,934...80,548,228
|
|
G |
LOC124909504 |
Sharpr-MPRA regulatory region 7086 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:85,241,014...85,241,308
|
|
G |
LOC124909505 |
Sharpr-MPRA regulatory region 1723 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:85,864,974...85,865,268
|
|
G |
LOC126861767 |
BRD4-independent group 4 enhancer GRCh37_chr13:47676673-47677872 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:47,102,538...47,103,737
|
|
G |
LOC126861768 |
BRD4-independent group 4 enhancer GRCh37_chr13:48095470-48096669 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:47,521,335...47,522,534
|
|
G |
LOC126861769 |
CDK7 strongly-dependent group 2 enhancer GRCh37_chr13:48431764-48432963 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:47,857,629...47,858,828
|
|
G |
LOC126861770 |
CDK7 strongly-dependent group 2 enhancer GRCh37_chr13:48575750-48576949 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:48,001,614...48,002,813
|
|
G |
LOC126861771 |
MED14-independent group 3 enhancer GRCh37_chr13:48646101-48647300 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:48,071,965...48,073,164
|
|
G |
LOC126861772 |
P300/CBP strongly-dependent group 1 enhancer GRCh37_chr13:49323510-49324709 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:48,749,374...48,750,573
|
|
G |
LOC126861773 |
BRD4-independent group 4 enhancer GRCh37_chr13:49632061-49633260 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:49,057,925...49,059,124
|
|
G |
LOC126861774 |
P300/CBP strongly-dependent group 1 enhancer GRCh37_chr13:49888093-49889292 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:49,313,957...49,315,156
|
|
G |
LOC126861775 |
CDK7 strongly-dependent group 2 enhancer GRCh37_chr13:50818353-50819552 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:50,244,217...50,245,416
|
|
G |
LOC126861776 |
MED14-independent group 3 enhancer GRCh37_chr13:51102968-51104167 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:50,528,832...50,530,349
|
|
G |
LOC126861777 |
CDK7 strongly-dependent group 2 enhancer GRCh37_chr13:51684668-51685867 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:51,110,532...51,111,731
|
|
G |
LOC126861778 |
CDK7 strongly-dependent group 2 enhancer GRCh37_chr13:51686552-51687751 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:51,112,416...51,113,615
|
|
G |
LOC126861779 |
MED14-independent group 3 enhancer GRCh37_chr13:52052769-52053968 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:51,478,633...51,479,832
|
|
G |
LOC126861780 |
P300/CBP strongly-dependent group 1 enhancer GRCh37_chr13:52435707-52436906 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:51,861,571...51,862,770
|
|
G |
LOC126861781 |
CDK7 strongly-dependent group 2 enhancer GRCh37_chr13:52501865-52503064 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:51,927,729...51,928,928
|
|
G |
LOC126861782 |
BRD4-independent group 4 enhancer GRCh37_chr13:52706487-52707686 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:52,132,351...52,133,550
|
|
G |
LOC126861783 |
CDK7 strongly-dependent group 2 enhancer GRCh37_chr13:52922389-52923588 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:52,348,254...52,349,453
|
|
G |
LOC126861784 |
MED14-independent group 3 enhancer GRCh37_chr13:55060370-55061569 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:54,486,235...54,487,434
|
|
G |
LOC126861785 |
MED14-independent group 3 enhancer GRCh37_chr13:57137111-57138310 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:56,562,977...56,564,176
|
|
G |
LOC126861786 |
MED14-independent group 3 enhancer GRCh37_chr13:62131441-62132640 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:61,557,308...61,558,507
|
|
G |
LOC126861787 |
BRD4-independent group 4 enhancer GRCh37_chr13:62241013-62242212 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:61,666,880...61,668,079
|
|
G |
LOC126861788 |
P300/CBP strongly-dependent group 1 enhancer GRCh37_chr13:63216915-63218114 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:62,642,782...62,643,981
|
|
G |
LOC126861789 |
CDK7 strongly-dependent group 2 enhancer GRCh37_chr13:65360601-65361800 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:64,786,469...64,787,668
|
|
G |
LOC126861790 |
MED14-independent group 3 enhancer GRCh37_chr13:66251524-66252723 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:65,677,392...65,678,591
|
|
G |
LOC126861791 |
P300/CBP strongly-dependent group 1 enhancer GRCh37_chr13:66487207-66488406 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:65,913,075...65,914,274
|
|
G |
LOC126861792 |
P300/CBP strongly-dependent group 1 enhancer GRCh37_chr13:67507550-67508749 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:66,933,418...66,934,617
|
|
G |
LOC126861793 |
P300/CBP strongly-dependent group 1 enhancer GRCh37_chr13:68764645-68765844 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:68,190,513...68,191,712
|
|
G |
LOC126861794 |
P300/CBP strongly-dependent group 1 enhancer GRCh37_chr13:69462586-69463785 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:68,888,454...68,889,653
|
|
G |
LOC126861795 |
MED14-independent group 3 enhancer GRCh37_chr13:70544083-70545282 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:69,969,951...69,971,150
|
|
G |
LOC126861796 |
BRD4-independent group 4 enhancer GRCh37_chr13:72741998-72743197 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:72,167,860...72,169,059
|
|
G |
LOC126861797 |
CDK7 strongly-dependent group 2 enhancer GRCh37_chr13:72744178-72745377 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:72,170,040...72,171,239
|
|
G |
LOC126861798 |
BRD4-independent group 4 enhancer GRCh37_chr13:73797915-73799114 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:73,223,778...73,224,977
|
|
G |
LOC126861799 |
BRD4-independent group 4 enhancer GRCh37_chr13:74289066-74290265 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:73,714,929...73,716,128
|
|
G |
LOC126861800 |
BRD4-independent group 4 enhancer GRCh37_chr13:75709394-75710593 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:75,135,257...75,136,456
|
|
G |
LOC126861801 |
BRD4-independent group 4 enhancer GRCh37_chr13:75899800-75900999 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:75,325,664...75,326,863
|
|
G |
LOC126861802 |
MED14-independent group 3 enhancer GRCh37_chr13:76279181-76280380 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:75,705,045...75,706,244
|
|
G |
LOC126861803 |
MED14-independent group 3 enhancer GRCh37_chr13:77491455-77492654 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:76,917,185...76,918,520
|
|
G |
LOC126861804 |
BRD4-independent group 4 enhancer GRCh37_chr13:77566521-77567720 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:76,992,386...76,993,585
|
|
G |
LOC126861805 |
P300/CBP strongly-dependent group 1 enhancer GRCh37_chr13:78675991-78677190 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:78,101,856...78,103,055
|
|
G |
LOC126861806 |
MED14-independent group 3 enhancer GRCh37_chr13:80134686-80135885 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:79,560,551...79,561,750
|
|
G |
LOC126861807 |
P300/CBP strongly-dependent group 1 enhancer GRCh37_chr13:80510429-80511628 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:79,936,294...79,937,493
|
|
G |
LOC126861808 |
MED14-independent group 3 enhancer GRCh37_chr13:80766325-80767524 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:80,191,999...80,193,389
|
|
G |
LOC126861809 |
BRD4-independent group 4 enhancer GRCh37_chr13:84091305-84092504 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:83,517,170...83,518,369
|
|
G |
LOC126861810 |
BRD4-independent group 4 enhancer GRCh37_chr13:85258624-85259823 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:84,684,489...84,685,688
|
|
G |
LOC126861811 |
MED14-independent group 3 enhancer GRCh37_chr13:86238925-86240124 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:85,664,790...85,665,989
|
|
G |
LOC126861812 |
P300/CBP strongly-dependent group 1 enhancer GRCh37_chr13:87694909-87696108 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:87,042,654...87,043,853
|
|
G |
LOC127898562 |
uncharacterized LOC127898562 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:77,326,905...77,326,988
|
|
G |
LOC129390601 |
MPRA-validated peak2077 silencer |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:69,677,164...69,677,364
|
|
G |
LOC129390602 |
MPRA-validated peak2084 silencer |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:80,791,940...80,792,140
|
|
G |
LOC129390603 |
MPRA-validated peak2085 silencer |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:81,199,621...81,199,821
|
|
G |
LOC129390604 |
MPRA-validated peak2087 silencer |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:81,252,461...81,252,661
|
|
G |
LOC129390605 |
MPRA-validated peak2090 silencer |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:82,415,161...82,415,361
|
|
G |
LOC129390606 |
MPRA-validated peak2091 silencer |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:82,565,281...82,565,481
|
|
G |
LOC129390607 |
MPRA-validated peak2098 silencer |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:87,336,221...87,336,421
|
|
G |
LOC130009742 |
ATAC-STARR-seq lymphoblastoid silent region 5329 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:46,992,483...46,992,542
|
|
G |
LOC130009743 |
ATAC-STARR-seq lymphoblastoid active region 7715 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:47,036,753...47,036,852
|
|
G |
LOC130009744 |
ATAC-STARR-seq lymphoblastoid active region 7716 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:47,100,726...47,100,775
|
|
G |
LOC130009745 |
ATAC-STARR-seq lymphoblastoid active region 7717 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:48,000,908...48,000,957
|
|
G |
LOC130009746 |
ATAC-STARR-seq lymphoblastoid active region 7718 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:48,000,978...48,001,027
|
|
G |
LOC130009747 |
ATAC-STARR-seq lymphoblastoid active region 7719 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:48,001,048...48,001,237
|
|
G |
LOC130009748 |
ATAC-STARR-seq lymphoblastoid silent region 5330 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:48,001,358...48,001,467
|
|
G |
LOC130009749 |
ATAC-STARR-seq lymphoblastoid active region 7723 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:48,156,615...48,156,734
|
|
G |
LOC130009750 |
ATAC-STARR-seq lymphoblastoid active region 7724 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:48,186,386...48,186,615
|
|
G |
LOC130009751 |
ATAC-STARR-seq lymphoblastoid silent region 5331 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:48,233,082...48,233,441
|
|
G |
LOC130009752 |
ATAC-STARR-seq lymphoblastoid silent region 5332 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:48,233,452...48,233,661
|
|
G |
LOC130009753 |
ATAC-STARR-seq lymphoblastoid active region 7725 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:48,287,247...48,287,306
|
|
G |
LOC130009754 |
ATAC-STARR-seq lymphoblastoid active region 7726 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:48,304,403...48,304,452
|
|
G |
LOC130009755 |
ATAC-STARR-seq lymphoblastoid active region 7727 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:48,304,693...48,304,762
|
|
G |
LOC130009756 |
ATAC-STARR-seq lymphoblastoid active region 7728 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:48,489,080...48,489,219
|
|
G |
LOC130009757 |
ATAC-STARR-seq lymphoblastoid active region 7729 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:48,489,230...48,489,279
|
|
G |
LOC130009758 |
ATAC-STARR-seq lymphoblastoid active region 7730 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:48,493,481...48,493,560
|
|
G |
LOC130009759 |
ATAC-STARR-seq lymphoblastoid silent region 5334 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:48,500,763...48,500,922
|
|
G |
LOC130009760 |
ATAC-STARR-seq lymphoblastoid active region 7731 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:48,505,507...48,505,776
|
|
G |
LOC130009761 |
ATAC-STARR-seq lymphoblastoid active region 7732 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:48,531,396...48,531,565
|
|
G |
LOC130009762 |
ATAC-STARR-seq lymphoblastoid active region 7733 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:48,532,456...48,532,695
|
|
G |
LOC130009763 |
ATAC-STARR-seq lymphoblastoid silent region 5335 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:48,532,736...48,533,135
|
|
G |
LOC130009764 |
ATAC-STARR-seq lymphoblastoid silent region 5336 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:48,533,246...48,533,295
|
|
G |
LOC130009765 |
ATAC-STARR-seq lymphoblastoid active region 7734 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:48,561,596...48,561,695
|
|
G |
LOC130009766 |
ATAC-STARR-seq lymphoblastoid active region 7735 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:48,579,484...48,579,553
|
|
G |
LOC130009767 |
ATAC-STARR-seq lymphoblastoid active region 7736 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:48,579,574...48,579,623
|
|
G |
LOC130009768 |
ATAC-STARR-seq lymphoblastoid active region 7737 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:48,884,402...48,884,641
|
|
G |
LOC130009769 |
ATAC-STARR-seq lymphoblastoid active region 7738 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:48,961,540...48,961,709
|
|
G |
LOC130009770 |
ATAC-STARR-seq lymphoblastoid active region 7739 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:48,975,117...48,975,176
|
|
G |
LOC130009771 |
ATAC-STARR-seq lymphoblastoid active region 7741 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:48,976,847...48,976,946
|
|
G |
LOC130009772 |
ATAC-STARR-seq lymphoblastoid active region 7742 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:49,082,622...49,082,871
|
|
G |
LOC130009773 |
ATAC-STARR-seq lymphoblastoid active region 7743 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:49,083,062...49,083,121
|
|
G |
LOC130009774 |
ATAC-STARR-seq lymphoblastoid active region 7744 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:49,083,332...49,083,421
|
|
G |
LOC130009775 |
ATAC-STARR-seq lymphoblastoid silent region 5340 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:49,220,291...49,220,370
|
|
G |
LOC130009776 |
ATAC-STARR-seq lymphoblastoid active region 7746 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:49,443,442...49,443,511
|
|
G |
LOC130009777 |
ATAC-STARR-seq lymphoblastoid active region 7748 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:49,495,755...49,495,994
|
|
G |
LOC130009778 |
ATAC-STARR-seq lymphoblastoid silent region 5342 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:49,496,015...49,496,294
|
|
G |
LOC130009779 |
ATAC-STARR-seq lymphoblastoid active region 7749 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:49,496,485...49,496,534
|
|
G |
LOC130009780 |
ATAC-STARR-seq lymphoblastoid silent region 5343 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:49,585,082...49,585,791
|
|
G |
LOC130009781 |
ATAC-STARR-seq lymphoblastoid active region 7750 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:49,606,886...49,607,105
|
|
G |
LOC130009782 |
ATAC-STARR-seq lymphoblastoid active region 7752 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:49,628,759...49,628,808
|
|
G |
LOC130009783 |
ATAC-STARR-seq lymphoblastoid active region 7753 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:49,635,806...49,635,855
|
|
G |
LOC130009784 |
ATAC-STARR-seq lymphoblastoid silent region 5346 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:49,759,608...49,759,677
|
|
G |
LOC130009785 |
ATAC-STARR-seq lymphoblastoid active region 7755 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:49,936,151...49,936,400
|
|
G |
LOC130009786 |
ATAC-STARR-seq lymphoblastoid silent region 5349 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:49,936,441...49,936,690
|
|
G |
LOC130009787 |
ATAC-STARR-seq lymphoblastoid active region 7756 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:49,937,271...49,937,320
|
|
G |
LOC130009788 |
ATAC-STARR-seq lymphoblastoid silent region 5350 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:49,996,009...49,996,058
|
|
G |
LOC130009789 |
ATAC-STARR-seq lymphoblastoid active region 7757 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:49,996,339...49,996,468
|
|
G |
LOC130009790 |
ATAC-STARR-seq lymphoblastoid silent region 5351 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:49,996,649...49,996,778
|
|
G |
LOC130009791 |
ATAC-STARR-seq lymphoblastoid active region 7758 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:50,027,127...50,027,216
|
|
G |
LOC130009792 |
ATAC-STARR-seq lymphoblastoid active region 7759 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:50,080,621...50,080,680
|
|
G |
LOC130009793 |
ATAC-STARR-seq lymphoblastoid silent region 5353 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:50,082,091...50,082,140
|
|
G |
LOC130009794 |
ATAC-STARR-seq lymphoblastoid silent region 5354 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:50,124,004...50,124,513
|
|
G |
LOC130009795 |
ATAC-STARR-seq lymphoblastoid silent region 5355 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:50,124,594...50,125,103
|
|
G |
LOC130009796 |
ATAC-STARR-seq lymphoblastoid silent region 5356 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:50,125,424...50,125,633
|
|
G |
LOC130009797 |
ATAC-STARR-seq lymphoblastoid silent region 5358 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:50,130,335...50,130,434
|
|
G |
LOC130009798 |
ATAC-STARR-seq lymphoblastoid silent region 5359 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:50,131,211...50,131,290
|
|
G |
LOC130009799 |
ATAC-STARR-seq lymphoblastoid active region 7760 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:50,153,018...50,153,067
|
|
G |
LOC130009800 |
ATAC-STARR-seq lymphoblastoid silent region 5360 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:50,594,477...50,594,676
|
|
G |
LOC130009801 |
ATAC-STARR-seq lymphoblastoid active region 7761 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:50,594,777...50,594,976
|
|
G |
LOC130009802 |
ATAC-STARR-seq lymphoblastoid active region 7762 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:50,635,477...50,635,676
|
|
G |
LOC130009803 |
ATAC-STARR-seq lymphoblastoid active region 7763 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:50,731,487...50,731,686
|
|
G |
LOC130009804 |
ATAC-STARR-seq lymphoblastoid active region 7764 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:50,756,233...50,756,282
|
|
G |
LOC130009805 |
ATAC-STARR-seq lymphoblastoid active region 7765 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:50,756,313...50,756,362
|
|
G |
LOC130009806 |
ATAC-STARR-seq lymphoblastoid active region 7766 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:50,756,393...50,756,502
|
|
G |
LOC130009807 |
ATAC-STARR-seq lymphoblastoid active region 7767 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:50,801,246...50,801,295
|
|
G |
LOC130009808 |
ATAC-STARR-seq lymphoblastoid active region 7768 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:50,801,366...50,801,465
|
|
G |
LOC130009809 |
ATAC-STARR-seq lymphoblastoid silent region 5361 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:50,909,606...50,910,035
|
|
G |
LOC130009810 |
ATAC-STARR-seq lymphoblastoid silent region 5362 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:50,910,046...50,910,285
|
|
G |
LOC130009811 |
ATAC-STARR-seq lymphoblastoid silent region 5363 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:50,910,496...50,910,545
|
|
G |
LOC130009812 |
ATAC-STARR-seq lymphoblastoid active region 7770 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:50,914,903...50,914,992
|
|
G |
LOC130009813 |
ATAC-STARR-seq lymphoblastoid active region 7771 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:50,917,191...50,917,340
|
|
G |
LOC130009814 |
ATAC-STARR-seq lymphoblastoid silent region 5364 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:51,125,838...51,125,887
|
|
G |
LOC130009815 |
ATAC-STARR-seq lymphoblastoid active region 7772 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:51,331,304...51,331,433
|
|
G |
LOC130009816 |
ATAC-STARR-seq lymphoblastoid silent region 5367 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:51,451,572...51,451,621
|
|
G |
LOC130009817 |
ATAC-STARR-seq lymphoblastoid silent region 5368 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:51,451,682...51,451,841
|
|
G |
LOC130009818 |
ATAC-STARR-seq lymphoblastoid silent region 5369 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:51,451,912...51,452,051
|
|
G |
LOC130009819 |
ATAC-STARR-seq lymphoblastoid silent region 5370 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:51,452,062...51,452,181
|
|
G |
LOC130009820 |
ATAC-STARR-seq lymphoblastoid silent region 5371 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:51,452,192...51,452,461
|
|
G |
LOC130009821 |
ATAC-STARR-seq lymphoblastoid silent region 5372 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:51,452,702...51,452,961
|
|
G |
LOC130009822 |
ATAC-STARR-seq lymphoblastoid active region 7773 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:51,453,022...51,453,071
|
|
G |
LOC130009823 |
ATAC-STARR-seq lymphoblastoid silent region 5373 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:51,453,192...51,453,391
|
|
G |
LOC130009824 |
ATAC-STARR-seq lymphoblastoid silent region 5374 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:51,453,482...51,453,801
|
|
G |
LOC130009825 |
ATAC-STARR-seq lymphoblastoid active region 7774 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:51,502,500...51,502,649
|
|
G |
LOC130009826 |
ATAC-STARR-seq lymphoblastoid silent region 5375 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:51,584,313...51,584,682
|
|
G |
LOC130009827 |
ATAC-STARR-seq lymphoblastoid active region 7776 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:51,614,386...51,614,445
|
|
G |
LOC130009828 |
ATAC-STARR-seq lymphoblastoid active region 7777 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:51,614,476...51,614,565
|
|
G |
LOC130009829 |
ATAC-STARR-seq lymphoblastoid active region 7778 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:51,764,521...51,764,840
|
|
G |
LOC130009830 |
ATAC-STARR-seq lymphoblastoid silent region 5376 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:51,781,498...51,781,547
|
|
G |
LOC130009831 |
ATAC-STARR-seq lymphoblastoid active region 7779 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:51,793,788...51,794,147
|
|
G |
LOC130009832 |
ATAC-STARR-seq lymphoblastoid active region 7780 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:51,797,652...51,797,731
|
|
G |
LOC130009833 |
ATAC-STARR-seq lymphoblastoid active region 7781 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:51,802,479...51,802,528
|
|
G |
LOC130009834 |
ATAC-STARR-seq lymphoblastoid silent region 5377 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:51,803,724...51,804,363
|
|
G |
LOC130009835 |
ATAC-STARR-seq lymphoblastoid active region 7782 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:51,804,914...51,805,043
|
|
G |
LOC130009836 |
ATAC-STARR-seq lymphoblastoid active region 7783 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:51,945,371...51,945,440
|
|
G |
LOC130009837 |
ATAC-STARR-seq lymphoblastoid active region 7784 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:51,945,501...51,945,600
|
|
G |
LOC130009838 |
ATAC-STARR-seq lymphoblastoid silent region 5378 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:52,011,657...52,011,996
|
|
G |
LOC130009839 |
ATAC-STARR-seq lymphoblastoid silent region 5379 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:52,012,047...52,012,156
|
|
G |
LOC130009840 |
ATAC-STARR-seq lymphoblastoid silent region 5380 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:52,012,167...52,012,266
|
|
G |
LOC130009841 |
ATAC-STARR-seq lymphoblastoid active region 7785 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:52,012,387...52,012,516
|
|
G |
LOC130009842 |
ATAC-STARR-seq lymphoblastoid active region 7786 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:52,012,567...52,012,656
|
|
G |
LOC130009843 |
ATAC-STARR-seq lymphoblastoid silent region 5381 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:52,159,284...52,159,393
|
|
G |
LOC130009844 |
ATAC-STARR-seq lymphoblastoid silent region 5382 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:52,159,474...52,159,533
|
|
G |
LOC130009845 |
ATAC-STARR-seq lymphoblastoid active region 7787 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:52,194,357...52,194,626
|
|
G |
LOC130009846 |
ATAC-STARR-seq lymphoblastoid active region 7788 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:52,194,667...52,194,716
|
|
G |
LOC130009847 |
ATAC-STARR-seq lymphoblastoid active region 7789 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:52,194,757...52,194,806
|
|
G |
LOC130009848 |
ATAC-STARR-seq lymphoblastoid silent region 5384 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:52,406,102...52,406,261
|
|
G |
LOC130009849 |
ATAC-STARR-seq lymphoblastoid silent region 5386 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:52,450,821...52,450,880
|
|
G |
LOC130009850 |
ATAC-STARR-seq lymphoblastoid active region 7790 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:52,454,629...52,454,808
|
|
G |
LOC130009851 |
ATAC-STARR-seq lymphoblastoid active region 7791 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:52,455,099...52,455,178
|
|
G |
LOC130009852 |
ATAC-STARR-seq lymphoblastoid active region 7792 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:52,616,840...52,616,959
|
|
G |
LOC130009853 |
ATAC-STARR-seq lymphoblastoid active region 7793 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:52,617,350...52,617,569
|
|
G |
LOC130009854 |
ATAC-STARR-seq lymphoblastoid active region 7794 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:52,652,137...52,652,476
|
|
G |
LOC130009855 |
ATAC-STARR-seq lymphoblastoid active region 7795 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:52,653,197...52,653,316
|
|
G |
LOC130009856 |
ATAC-STARR-seq lymphoblastoid active region 7796 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:52,851,343...52,851,552
|
|
G |
LOC130009857 |
ATAC-STARR-seq lymphoblastoid active region 7797 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:52,921,152...52,921,201
|
|
G |
LOC130009858 |
ATAC-STARR-seq lymphoblastoid active region 7798 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:59,391,812...59,391,921
|
|
G |
LOC130009859 |
ATAC-STARR-seq lymphoblastoid active region 7799 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:60,164,317...60,164,366
|
|
G |
LOC130009860 |
ATAC-STARR-seq lymphoblastoid silent region 5389 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:60,329,699...60,329,768
|
|
G |
LOC130009861 |
ATAC-STARR-seq lymphoblastoid active region 7800 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:60,396,142...60,396,211
|
|
G |
LOC130009862 |
ATAC-STARR-seq lymphoblastoid silent region 5390 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:60,397,282...60,397,851
|
|
G |
LOC130009863 |
ATAC-STARR-seq lymphoblastoid active region 7803 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:60,398,022...60,398,071
|
|
G |
LOC130009864 |
ATAC-STARR-seq lymphoblastoid active region 7804 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:61,247,545...61,247,594
|
|
G |
LOC130009865 |
ATAC-STARR-seq lymphoblastoid active region 7805 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:62,209,709...62,209,808
|
|
G |
LOC130009866 |
ATAC-STARR-seq lymphoblastoid active region 7806 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:62,511,138...62,511,197
|
|
G |
LOC130009867 |
ATAC-STARR-seq lymphoblastoid active region 7807 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:62,512,541...62,512,680
|
|
G |
LOC130009868 |
ATAC-STARR-seq lymphoblastoid silent region 5391 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:67,230,607...67,230,746
|
|
G |
LOC130009869 |
ATAC-STARR-seq lymphoblastoid silent region 5392 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:69,565,561...69,565,680
|
|
G |
LOC130009870 |
ATAC-STARR-seq lymphoblastoid active region 7809 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:71,021,887...71,022,126
|
|
G |
LOC130009871 |
ATAC-STARR-seq lymphoblastoid silent region 5393 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:71,056,847...71,056,936
|
|
G |
LOC130009872 |
ATAC-STARR-seq lymphoblastoid active region 7810 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:71,291,189...71,291,478
|
|
G |
LOC130009873 |
ATAC-STARR-seq lymphoblastoid active region 7811 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:71,876,041...71,876,090
|
|
G |
LOC130009874 |
ATAC-STARR-seq lymphoblastoid active region 7812 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:71,879,127...71,879,406
|
|
G |
LOC130009875 |
ATAC-STARR-seq lymphoblastoid active region 7813 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:72,727,365...72,727,434
|
|
G |
LOC130009876 |
ATAC-STARR-seq lymphoblastoid silent region 5395 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:72,727,795...72,727,944
|
|
G |
LOC130009877 |
ATAC-STARR-seq lymphoblastoid active region 7814 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:72,728,155...72,728,204
|
|
G |
LOC130009878 |
ATAC-STARR-seq lymphoblastoid active region 7816 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:72,864,856...72,865,025
|
|
G |
LOC130009879 |
ATAC-STARR-seq lymphoblastoid silent region 5397 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:73,058,749...73,059,358
|
|
G |
LOC130009880 |
ATAC-STARR-seq lymphoblastoid silent region 5398 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:73,059,679...73,059,768
|
|
G |
LOC130009881 |
ATAC-STARR-seq lymphoblastoid active region 7817 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:74,026,803...74,026,882
|
|
G |
LOC130009882 |
ATAC-STARR-seq lymphoblastoid active region 7818 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:74,132,882...74,133,061
|
|
G |
LOC130009883 |
ATAC-STARR-seq lymphoblastoid active region 7819 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:74,133,092...74,133,141
|
|
G |
LOC130009884 |
ATAC-STARR-seq lymphoblastoid silent region 5399 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:74,134,151...74,135,900
|
|
G |
LOC130009885 |
ATAC-STARR-seq lymphoblastoid active region 7820 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:74,158,047...74,158,156
|
|
G |
LOC130009886 |
ATAC-STARR-seq lymphoblastoid active region 7821 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:75,310,591...75,310,650
|
|
G |
LOC130009887 |
ATAC-STARR-seq lymphoblastoid active region 7822 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:75,326,924...75,327,043
|
|
G |
LOC130009888 |
ATAC-STARR-seq lymphoblastoid active region 7823 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:75,365,708...75,365,977
|
|
G |
LOC130009889 |
ATAC-STARR-seq lymphoblastoid active region 7824 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:75,385,357...75,385,406
|
|
G |
LOC130009890 |
ATAC-STARR-seq lymphoblastoid active region 7825 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:75,391,416...75,391,465
|
|
G |
LOC130009891 |
ATAC-STARR-seq lymphoblastoid active region 7826 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:75,395,327...75,395,376
|
|
G |
LOC130009892 |
ATAC-STARR-seq lymphoblastoid silent region 5401 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:75,480,803...75,481,172
|
|
G |
LOC130009893 |
ATAC-STARR-seq lymphoblastoid silent region 5402 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:75,481,773...75,482,222
|
|
G |
LOC130009894 |
ATAC-STARR-seq lymphoblastoid active region 7827 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:75,482,703...75,482,792
|
|
G |
LOC130009895 |
ATAC-STARR-seq lymphoblastoid active region 7828 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:75,513,518...75,513,567
|
|
G |
LOC130009896 |
ATAC-STARR-seq lymphoblastoid active region 7829 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:75,537,883...75,537,962
|
|
G |
LOC130009897 |
ATAC-STARR-seq lymphoblastoid active region 7830 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:75,549,236...75,549,305
|
|
G |
LOC130009898 |
ATAC-STARR-seq lymphoblastoid active region 7831 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:75,549,566...75,549,685
|
|
G |
LOC130009899 |
ATAC-STARR-seq lymphoblastoid silent region 5403 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:75,635,723...75,636,412
|
|
G |
LOC130009900 |
ATAC-STARR-seq lymphoblastoid silent region 5404 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:75,636,443...75,636,492
|
|
G |
LOC130009901 |
ATAC-STARR-seq lymphoblastoid silent region 5405 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:75,636,563...75,636,702
|
|
G |
LOC130009902 |
ATAC-STARR-seq lymphoblastoid active region 7834 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:75,646,647...75,646,696
|
|
G |
LOC130009903 |
ATAC-STARR-seq lymphoblastoid active region 7835 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:75,788,508...75,788,727
|
|
G |
LOC130009904 |
ATAC-STARR-seq lymphoblastoid silent region 5406 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:75,876,567...75,876,656
|
|
G |
LOC130009905 |
ATAC-STARR-seq lymphoblastoid silent region 5407 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:75,986,985...75,987,054
|
|
G |
LOC130009906 |
ATAC-STARR-seq lymphoblastoid silent region 5408 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:76,016,953...76,017,002
|
|
G |
LOC130009907 |
ATAC-STARR-seq lymphoblastoid silent region 5409 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:76,473,646...76,473,805
|
|
G |
LOC130009908 |
ATAC-STARR-seq lymphoblastoid active region 7836 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:76,635,258...76,635,307
|
|
G |
LOC130009909 |
ATAC-STARR-seq lymphoblastoid active region 7837 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:76,798,239...76,798,358
|
|
G |
LOC130009910 |
ATAC-STARR-seq lymphoblastoid silent region 5411 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:76,886,203...76,886,632
|
|
G |
LOC130009911 |
ATAC-STARR-seq lymphoblastoid silent region 5412 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:76,991,415...76,991,504
|
|
G |
LOC130009912 |
ATAC-STARR-seq lymphoblastoid silent region 5413 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:76,991,595...76,991,664
|
|
G |
LOC130009913 |
ATAC-STARR-seq lymphoblastoid silent region 5414 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:76,992,125...76,992,364
|
|
G |
LOC130009914 |
ATAC-STARR-seq lymphoblastoid active region 7838 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:77,009,365...77,009,434
|
|
G |
LOC130009915 |
ATAC-STARR-seq lymphoblastoid silent region 5415 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:77,026,700...77,026,759
|
|
G |
LOC130009916 |
ATAC-STARR-seq lymphoblastoid silent region 5416 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:77,026,780...77,027,059
|
|
G |
LOC130009917 |
ATAC-STARR-seq lymphoblastoid silent region 5417 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:77,027,230...77,027,279
|
|
G |
LOC130009918 |
ATAC-STARR-seq lymphoblastoid active region 7839 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:77,184,786...77,184,835
|
|
G |
LOC130009919 |
ATAC-STARR-seq lymphoblastoid active region 7840 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:77,325,394...77,325,573
|
|
G |
LOC130009920 |
ATAC-STARR-seq lymphoblastoid silent region 5418 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:77,326,514...77,326,633
|
|
G |
LOC130009921 |
ATAC-STARR-seq lymphoblastoid silent region 5419 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:77,326,674...77,327,053
|
|
G |
LOC130009922 |
ATAC-STARR-seq lymphoblastoid active region 7841 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:77,327,244...77,327,573
|
|
G |
LOC130009923 |
ATAC-STARR-seq lymphoblastoid active region 7842 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:77,329,595...77,329,674
|
|
G |
LOC130009924 |
ATAC-STARR-seq lymphoblastoid active region 7843 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:77,339,301...77,339,490
|
|
G |
LOC130009925 |
ATAC-STARR-seq lymphoblastoid active region 7844 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:77,429,603...77,429,812
|
|
G |
LOC130009926 |
ATAC-STARR-seq lymphoblastoid active region 7845 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:77,448,677...77,449,056
|
|
G |
LOC130009927 |
ATAC-STARR-seq lymphoblastoid silent region 5420 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:77,697,445...77,698,004
|
|
G |
LOC130009928 |
ATAC-STARR-seq lymphoblastoid silent region 5421 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:77,698,205...77,698,444
|
|
G |
LOC130009929 |
ATAC-STARR-seq lymphoblastoid silent region 5422 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:77,698,605...77,698,754
|
|
G |
LOC130009930 |
ATAC-STARR-seq lymphoblastoid active region 7846 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:77,724,159...77,724,288
|
|
G |
LOC130009931 |
ATAC-STARR-seq lymphoblastoid active region 7847 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:78,201,518...78,201,587
|
|
G |
LOC130009932 |
ATAC-STARR-seq lymphoblastoid silent region 5424 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:78,603,343...78,603,502
|
|
G |
LOC130009933 |
ATAC-STARR-seq lymphoblastoid active region 7849 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:79,109,115...79,109,194
|
|
G |
LOC130009934 |
ATAC-STARR-seq lymphoblastoid silent region 5425 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:79,190,943...79,191,052
|
|
G |
LOC130009935 |
ATAC-STARR-seq lymphoblastoid active region 7850 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:79,194,238...79,194,327
|
|
G |
LOC130009936 |
ATAC-STARR-seq lymphoblastoid active region 7851 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:79,194,438...79,194,657
|
|
G |
LOC130009937 |
ATAC-STARR-seq lymphoblastoid active region 7852 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:79,194,918...79,195,037
|
|
G |
LOC130009938 |
ATAC-STARR-seq lymphoblastoid active region 7853 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:79,228,018...79,228,067
|
|
G |
LOC130009939 |
ATAC-STARR-seq lymphoblastoid active region 7854 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:79,246,206...79,246,265
|
|
G |
LOC130009940 |
ATAC-STARR-seq lymphoblastoid active region 7855 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:79,246,276...79,246,355
|
|
G |
LOC130009941 |
ATAC-STARR-seq lymphoblastoid active region 7856 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:79,393,197...79,393,256
|
|
G |
LOC130009942 |
ATAC-STARR-seq lymphoblastoid active region 7857 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:79,393,267...79,393,316
|
|
G |
LOC130009943 |
ATAC-STARR-seq lymphoblastoid silent region 5427 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:79,468,945...79,469,054
|
|
G |
LOC130009944 |
ATAC-STARR-seq lymphoblastoid active region 7859 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:80,048,939...80,049,188
|
|
G |
LOC130009945 |
ATAC-STARR-seq lymphoblastoid active region 7860 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:80,338,930...80,338,979
|
|
G |
LOC130009946 |
ATAC-STARR-seq lymphoblastoid silent region 5428 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:80,341,074...80,341,263
|
|
G |
LOC130009947 |
ATAC-STARR-seq lymphoblastoid silent region 5429 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:80,341,494...80,341,543
|
|
G |
LOC130009948 |
ATAC-STARR-seq lymphoblastoid active region 7861 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:80,873,699...80,873,778
|
|
G |
LOC132090195 |
Neanderthal introgressed variant-containing enhancer experimental_32930 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:51,771,416...51,771,585
|
|
G |
LOC132090196 |
Neanderthal introgressed variant-containing enhancer experimental_33081 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:63,453,153...63,453,322
|
|
G |
LOC132090197 |
Neanderthal introgressed variant-containing enhancer experimental_33146 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:63,511,986...63,512,155
|
|
G |
LOC132090198 |
Neanderthal introgressed variant-containing enhancer experimental_33299 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:73,954,112...73,954,281
|
|
G |
LOC132090199 |
Neanderthal introgressed variant-containing enhancer experimental_33300 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:73,955,851...73,956,020
|
|
G |
LOC132090200 |
Neanderthal introgressed variant-containing enhancer experimental_33301 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:73,956,068...73,956,237
|
|
G |
LOC132090201 |
Neanderthal introgressed variant-containing enhancer experimental_33303 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:73,960,816...73,960,985
|
|
G |
LOC132090202 |
Neanderthal introgressed variant-containing enhancer experimental_33391 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:80,451,310...80,451,479
|
|
G |
LOC132090203 |
Neanderthal introgressed variant-containing enhancer experimental_33392 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:80,456,485...80,456,654
|
|
G |
LOC132090204 |
Neanderthal introgressed variant-containing enhancer experimental_33463 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:80,615,418...80,615,587
|
|
G |
LOC132090205 |
Neanderthal introgressed variant-containing enhancer experimental_33503 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:81,755,147...81,755,316
|
|
G |
LOC132090864 |
Neanderthal introgressed variant-containing enhancer experimental_33339 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:77,354,777...77,354,946
|
|
G |
LOC132090865 |
Neanderthal introgressed variant-containing enhancer experimental_33432 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:80,566,314...80,566,483
|
|
G |
LPAR6 |
lysophosphatidic acid receptor 6 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:48,389,571...48,444,669
Ensembl chr13:48,389,567...48,444,704
|
|
G |
MED4 |
mediator complex subunit 4 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:48,075,724...48,095,104
Ensembl chr13:48,053,323...48,095,131
|
|
G |
MED4-AS1 |
MED4 antisense RNA 1 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:48,077,137...48,079,993
Ensembl chr13:48,077,137...48,079,991
|
|
G |
MIR1297 |
microRNA 1297 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:54,311,972...54,312,048
Ensembl chr13:54,311,972...54,312,048
|
|
G |
MIR15A |
microRNA 15a |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:50,049,119...50,049,201
Ensembl chr13:50,049,119...50,049,201
|
|
G |
MIR16-1 |
microRNA 16-1 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:50,048,973...50,049,061
Ensembl chr13:50,048,973...50,049,061
|
|
G |
MIR3169 |
microRNA 3169 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:61,199,798...61,199,880
Ensembl chr13:61,199,798...61,199,880
|
|
G |
MIR3613 |
microRNA 3613 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:49,996,415...49,996,501
Ensembl chr13:49,996,415...49,996,501
|
|
G |
MIR3665 |
microRNA 3665 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:77,698,012...77,698,116
Ensembl chr13:77,698,012...77,698,116
|
|
G |
MIR4703 |
microRNA 4703 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:51,552,589...51,552,667
Ensembl chr13:51,552,589...51,552,667
|
|
G |
MIR4704 |
microRNA 4704 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:66,218,250...66,218,324
Ensembl chr13:66,218,250...66,218,324
|
|
G |
MIR5007 |
microRNA 5007 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:55,174,454...55,174,548
Ensembl chr13:55,174,454...55,174,548
|
|
G |
MIR548X2 |
microRNA 548x-2 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:65,966,330...65,966,429
Ensembl chr13:65,966,330...65,966,429
|
|
G |
MIR5693 |
microRNA 5693 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:51,348,567...51,348,639
Ensembl chr13:51,348,567...51,348,639
|
|
G |
MIR759 |
microRNA 759 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:52,810,050...52,810,140
Ensembl chr13:52,810,050...52,810,140
|
|
G |
MLNR |
motilin receptor |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:49,220,338...49,222,377
Ensembl chr13:49,220,338...49,222,377
|
|
G |
MYCBP2 |
MYC binding protein 2 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:77,044,657...77,327,094
Ensembl chr13:77,042,474...77,327,094
|
|
G |
MYCBP2-AS1 |
MYCBP2 antisense RNA 1 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:77,075,514...77,087,776
Ensembl chr13:77,026,767...77,129,717
|
|
G |
MYCBP2-AS2 |
MYCBP2 antisense RNA 2 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:77,080,511...77,081,190
Ensembl chr13:77,080,511...77,081,190
|
|
G |
MZT1 |
mitotic spindle organizing protein 1 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:72,708,367...72,727,629
Ensembl chr13:72,708,367...72,727,629
|
|
G |
NDFIP2 |
Nedd4 family interacting protein 2 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:79,481,155...79,556,077
Ensembl chr13:79,481,155...79,556,077
|
|
G |
NDFIP2-AS1 |
NDFIP2 antisense RNA 1 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:79,477,364...79,481,231
Ensembl chr13:79,477,364...79,481,231
|
|
G |
NEK3 |
NIMA related kinase 3 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:52,132,647...52,159,860
Ensembl chr13:52,132,639...52,159,597
|
|
G |
NEK5 |
NIMA related kinase 5 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:52,033,611...52,129,073
Ensembl chr13:52,033,611...52,129,092
|
|
G |
NUDT15 |
nudix hydrolase 15 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:48,037,726...48,052,755
Ensembl chr13:48,037,726...48,047,221
|
|
G |
OBI1 |
ORC ubiquitin ligase 1 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:78,614,289...78,659,155
Ensembl chr13:78,614,289...78,659,155
|
|
G |
OBI1-AS1 |
OBI1 antisense RNA 1 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:78,054,855...78,617,325
Ensembl chr13:77,919,689...78,617,328
|
|
G |
OLFM4 |
olfactomedin 4 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:53,028,813...53,052,057
Ensembl chr13:53,028,813...53,052,057
|
|
G |
OR7E104P |
olfactory receptor family 7 subfamily E member 104 pseudogene |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:63,828,840...63,844,125
Ensembl chr13:63,828,840...63,844,125
|
|
G |
PCDH17 |
protocadherin 17 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:57,630,108...57,729,311
Ensembl chr13:57,631,744...57,729,311
|
|
G |
PCDH20 |
protocadherin 20 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:61,409,685...61,415,849
Ensembl chr13:61,409,685...61,415,849
|
|
G |
PCDH8 |
protocadherin 8 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:52,842,889...52,848,640
Ensembl chr13:52,842,889...52,848,641
|
|
G |
PCDH9 |
protocadherin 9 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:66,302,834...67,230,336
Ensembl chr13:66,302,834...67,230,445
|
|
G |
PCDH9-AS1 |
PCDH9 antisense RNA 1 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:66,303,871...66,323,561
Ensembl chr13:66,303,871...66,323,561
|
|
G |
PCDH9-AS2 |
PCDH9 antisense RNA 2 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:66,825,169...66,915,031
Ensembl chr13:66,825,169...66,915,031
|
|
G |
PCDH9-AS3 |
PCDH9 antisense RNA 3 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:66,977,389...66,985,776
Ensembl chr13:66,977,432...66,985,776
|
|
G |
PCDH9-AS4 |
PCDH9 antisense RNA 4 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:66,990,886...67,002,000
Ensembl chr13:66,990,886...67,002,007
|
|
G |
PHF11 |
PHD finger protein 11 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:49,495,953...49,528,976
Ensembl chr13:49,495,610...49,528,981
|
|
G |
PIBF1 |
progesterone immunomodulatory binding factor 1 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:72,782,133...73,016,461
Ensembl chr13:72,782,133...73,016,461
|
|
G |
POU4F1 |
POU class 4 homeobox 1 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:78,598,362...78,603,552
Ensembl chr13:78,598,362...78,603,552
|
|
G |
PRR20A |
proline rich 20A |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:57,140,918...57,143,939
Ensembl chr13:57,140,918...57,143,939
|
|
G |
PRR20B |
proline rich 20B |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:57,147,488...57,150,509
Ensembl chr13:57,147,488...57,150,509
|
|
G |
PRR20C |
proline rich 20C |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:57,154,061...57,157,082
Ensembl chr13:57,140,918...57,157,082
|
|
G |
PRR20D |
proline rich 20D |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:57,160,632...57,163,653
Ensembl chr13:57,160,632...57,163,653
|
|
G |
PRR20E |
proline rich 20E |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:57,167,197...57,170,218
Ensembl chr13:57,167,197...57,170,218
|
|
G |
RB1 |
RB transcriptional corepressor 1 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:48,303,751...48,481,890
Ensembl chr13:48,303,744...48,599,436
|
|
G |
RB1-DT |
RB1 divergent transcript |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:48,296,513...48,303,702
Ensembl chr13:48,296,162...48,303,720
|
|
G |
RBM26 |
RNA binding motif protein 26 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:79,311,827...79,406,255
Ensembl chr13:79,311,824...79,406,477
|
|
G |
RBM26-AS1 |
RBM26 antisense RNA 1 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:79,406,309...79,424,336
Ensembl chr13:79,406,293...79,427,317
|
|
G |
RCBTB1 |
RCC1 and BTB domain containing protein 1 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:49,531,946...49,585,558
Ensembl chr13:49,531,946...49,585,558
|
|
G |
RCBTB2 |
RCC1 and BTB domain containing protein 2 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:48,488,963...48,535,895
Ensembl chr13:48,488,963...48,533,256
|
|
G |
RNASEH2B |
ribonuclease H2 subunit B |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:50,909,678...50,970,460
Ensembl chr13:50,909,747...51,024,120
|
|
G |
RNASEH2B-AS1 |
RNASEH2B antisense RNA 1 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:50,882,378...50,910,712
Ensembl chr13:50,862,172...50,910,764
|
|
G |
SCEL |
sciellin |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:77,535,706...77,645,263
Ensembl chr13:77,535,674...77,645,263
|
|
G |
SCEL-AS1 |
SCEL antisense RNA 1 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:77,599,755...77,606,551
Ensembl chr13:77,599,755...77,606,551
|
|
G |
SERPINE3 |
serpin family E member 3 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr13:51,339,691...51,364,735
Ensembl chr13:51,335,773...51,364,735
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G |
SETDB2 |
SET domain bifurcated histone lysine methyltransferase 2 |
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IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr13:49,444,274...49,495,003
Ensembl chr13:49,444,274...49,495,003
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G |
SETDB2-PHF11 |
SETDB2-PHF11 readthrough |
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IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr13:49,444,274...49,528,976
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G |
SLAIN1 |
SLAIN motif family member 1 |
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IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr13:77,697,687...77,764,229
Ensembl chr13:77,697,687...77,764,242
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G |
SLITRK1 |
SLIT and NTRK like family member 1 |
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IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr13:83,877,205...83,882,474
Ensembl chr13:83,877,205...83,882,474
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G |
SLITRK6 |
SLIT and NTRK like family member 6 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr13:85,792,790...85,799,419
Ensembl chr13:85,792,790...85,806,683
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G |
SNORA107 |
small nucleolar RNA, H/ACA box 107 |
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IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr13:84,783,654...84,783,778
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G |
SPRY2 |
sprouty RTK signaling antagonist 2 |
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IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr13:80,335,976...80,341,126
Ensembl chr13:80,335,976...80,341,126
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G |
SPRYD7 |
SPRY domain containing 7 |
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IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr13:49,912,702...49,936,340
Ensembl chr13:49,912,702...49,936,490
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G |
SUCLA2 |
succinate-CoA ligase ADP-forming subunit beta |
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IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr13:47,942,656...48,001,273
Ensembl chr13:47,745,736...48,037,968
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G |
SUCLA2-AS1 |
SUCLA2 antisense RNA 1 |
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IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr13:48,001,389...48,002,614
Ensembl chr13:48,001,389...48,002,552
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G |
SUGT1 |
SGT1 homolog, MIS12 kinetochore complex assembly cochaperone |
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IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr13:52,652,836...52,700,909
Ensembl chr13:52,652,709...52,700,909
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G |
SUGT1-DT |
SUGT1 divergent transcript |
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IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr13:52,651,305...52,652,307
Ensembl chr13:52,651,305...52,652,337
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G |
TBC1D4 |
TBC1 domain family member 4 |
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IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr13:75,283,503...75,482,169
Ensembl chr13:75,283,503...75,482,169
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G |
TDRD3 |
tudor domain containing 3 |
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IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr13:60,395,533...60,573,879
Ensembl chr13:60,396,457...60,573,878
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G |
THSD1 |
thrombospondin type 1 domain containing 1 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr13:52,377,167...52,406,172
Ensembl chr13:52,377,167...52,416,373
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G |
TMEM272 |
transmembrane protein 272 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr13:51,813,347...51,934,366
Ensembl chr13:51,813,347...51,845,177
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G |
TRIM13 |
tripartite motif containing 13 |
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IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr13:49,997,042...50,018,467
Ensembl chr13:49,995,888...50,020,481
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G |
UCHL3 |
ubiquitin C-terminal hydrolase L3 |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr13:75,549,502...75,606,020
Ensembl chr13:75,549,483...75,606,020
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G |
UTP14C |
UTP14C small subunit processome component |
|
IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr13:52,024,691...52,033,600
Ensembl chr13:52,024,691...52,033,600
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G |
VPS36 |
vacuolar protein sorting 36 homolog |
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IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr13:52,412,606...52,450,634
Ensembl chr13:52,412,602...52,450,634
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G |
WDFY2 |
WD repeat and FYVE domain containing 2 |
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IAGP |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr13:51,584,462...51,767,709
Ensembl chr13:51,584,455...51,767,709
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G |
ARID2 |
AT-rich interaction domain 2 |
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IAGP |
ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma |
ClinVar |
PMID:26580448 |
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NCBI chr12:45,729,706...45,908,037
Ensembl chr12:45,729,706...45,908,040
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G |
CTCF |
CCCTC-binding factor |
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IAGP |
ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma |
ClinVar |
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NCBI chr16:67,562,526...67,639,185
Ensembl chr16:67,562,467...67,639,177
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G |
SUFU |
SUFU negative regulator of hedgehog signaling |
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IAGP |
ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma |
ClinVar |
PMID:12068298 |
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NCBI chr10:102,502,819...102,633,535
Ensembl chr10:102,503,972...102,633,535
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G |
ACVR1 |
activin A receptor type 1 |
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IAGP |
ClinVar Annotator: match by term: Diffuse intrinsic pontine glioma |
ClinVar |
PMID:24705250 PMID:24705254 PMID:26619011 PMID:31779674 |
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NCBI chr 2:157,736,446...157,876,330
Ensembl chr 2:157,736,251...157,876,330
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G |
BRIP1 |
BRCA1 interacting helicase 1 |
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IAGP |
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 chr17:61,679,139...61,863,528
Ensembl chr17:61,679,139...61,863,559
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G |
NF1 |
neurofibromin 1 |
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IAGP |
ClinVar Annotator: match by term: Diffuse intrinsic pontine glioma |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr17:31,094,927...31,377,677
Ensembl chr17:31,094,927...31,382,116
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G |
ALK |
ALK receptor tyrosine kinase |
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IAGP |
ClinVar Annotator: match by term: Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 2:29,192,774...29,921,586
Ensembl chr 2:29,192,774...29,921,586
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G |
BRCA2 |
BRCA2 DNA repair associated |
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IAGP |
ClinVar Annotator: match by term: Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype |
ClinVar |
PMID:25741868 PMID:26467025 PMID:28492532 |
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NCBI chr13:32,315,508...32,400,268
Ensembl chr13:32,315,086...32,400,268
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G |
CDK4 |
cyclin dependent kinase 4 |
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IAGP |
ClinVar Annotator: match by term: Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr12:57,747,727...57,752,310
Ensembl chr12:57,747,727...57,756,013
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G |
FANCA |
FA complementation group A |
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IAGP |
ClinVar Annotator: match by term: Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype |
ClinVar |
PMID:25741868 |
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NCBI chr16:89,737,549...89,816,647
Ensembl chr16:89,726,683...89,816,977
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G |
FGFR3 |
fibroblast growth factor receptor 3 |
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IAGP |
ClinVar Annotator: match by term: Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 4:1,793,293...1,808,867
Ensembl chr 4:1,793,293...1,808,872
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G |
IDH1 |
isocitrate dehydrogenase (NADP(+)) 1 |
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IAGP |
ClinVar Annotator: match by term: Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype |
ClinVar |
PMID:25741868 |
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NCBI chr 2:208,236,227...208,255,071
Ensembl chr 2:208,236,229...208,266,074
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G |
KDM5B |
lysine demethylase 5B |
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IAGP |
ClinVar Annotator: match by term: Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype |
ClinVar |
PMID:25741868 |
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NCBI chr 1:202,724,495...202,808,421
Ensembl chr 1:202,724,495...202,808,487
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G |
NF1 |
neurofibromin 1 |
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IAGP |
ClinVar Annotator: match by term: Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype |
ClinVar |
PMID:25741868 PMID:26740943 PMID:28492532 PMID:29684080 PMID:31882575 |
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NCBI chr17:31,094,927...31,377,677
Ensembl chr17:31,094,927...31,382,116
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G |
PMS2 |
PMS1 homolog 2, mismatch repair system component |
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IAGP |
ClinVar Annotator: match by term: Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype |
ClinVar |
PMID:23435383 PMID:25741868 PMID:28492532 PMID:35451539 |
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NCBI chr 7:5,970,925...6,009,106
Ensembl chr 7:5,970,925...6,009,130
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G |
RET |
ret proto-oncogene |
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IAGP |
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 chr10:43,077,069...43,130,351
Ensembl chr10:43,077,064...43,130,351
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G |
SDHA |
succinate dehydrogenase complex flavoprotein subunit A |
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IAGP |
ClinVar Annotator: match by term: Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 5:218,320...268,746
Ensembl chr 5:218,303...257,082
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G |
TP53 |
tumor protein p53 |
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IAGP |
ClinVar Annotator: match by term: Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype |
ClinVar |
PMID:1349175 PMID:1565143 PMID:1565144 PMID:1631137 PMID:8401536 PMID:8402598 PMID:8425176 PMID:8718514 PMID:8829627 PMID:11370630 PMID:11782540 PMID:12826609 PMID:15958617 PMID:16206219 PMID:16818505 PMID:17015838 PMID:17606709 PMID:19012332 PMID:19468865 PMID:20407015 PMID:21059199 PMID:21305319 PMID:21343334 PMID:21519010 PMID:21761402 PMID:22186996 PMID:22672556 PMID:22915647 PMID:23161690 PMID:23246812 PMID:24573247 PMID:24857548 PMID:25186627 PMID:25584008 PMID:25619955 PMID:25741868 PMID:25952993 PMID:26014290 PMID:26230955 PMID:26585234 PMID:26619011 PMID:26845104 PMID:26878390 PMID:26911350 PMID:27077130 PMID:27276561 PMID:27463065 PMID:27680515 PMID:27895058 PMID:27959731 PMID:28369373 PMID:28472496 PMID:28492532 PMID:28975465 PMID:29581140 PMID:29979965 PMID:30224644 PMID:30327374 PMID:30709381 PMID:30816478 PMID:32000721 PMID:32475984 PMID:33407742 More...
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NCBI chr17:7,668,421...7,687,490
Ensembl chr17:7,661,779...7,687,538
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G |
TSPAN31 |
tetraspanin 31 |
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IAGP |
ClinVar Annotator: match by term: Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr12:57,745,039...57,750,219
Ensembl chr12:57,738,013...57,750,219
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G |
BRAF |
B-Raf proto-oncogene, serine/threonine kinase |
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IAGP |
DNA:mutation:cds:p.V600E(human) |
RGD |
PMID:25346165 |
RGD:11567238 |
NCBI chr 7:140,713,328...140,924,929
Ensembl chr 7:140,719,327...140,924,929
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G |
BCL7C |
BAF chromatin remodeling complex subunit BCL7C |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26075792 |
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NCBI chr16:30,833,626...30,894,077
Ensembl chr16:30,833,626...30,894,302
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G |
EPHB2 |
EPH receptor B2 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26075792 |
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NCBI chr 1:22,710,838...22,921,500
Ensembl chr 1:22,710,839...22,921,500
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G |
GDNF |
glial cell derived neurotrophic factor |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19138852 |
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NCBI chr 5:37,812,677...37,840,041
Ensembl chr 5:37,812,677...37,840,041
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G |
IGF2 |
insulin like growth factor 2 |
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IEP |
mRNA:increased expression:cerebellum |
RGD |
PMID:18478565 |
RGD:5509961 |
NCBI chr11:2,129,117...2,149,566
Ensembl chr11:2,129,112...2,158,391
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G |
RAB3A |
RAB3A, member RAS oncogene family |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26075792 |
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NCBI chr19:18,196,784...18,204,042
Ensembl chr19:18,196,784...18,204,042
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G |
RTBDN |
retbindin |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26075792 |
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NCBI chr19:12,825,482...12,835,428
Ensembl chr19:12,825,478...12,835,428
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G |
SHC3 |
SHC adaptor protein 3 |
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IAGP |
DNA:amplification:brain: |
RGD |
PMID:19748727 |
RGD:13782069 |
NCBI chr 9:89,005,771...89,178,818
Ensembl chr 9:89,005,771...89,178,818
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G |
ZNF668 |
zinc finger protein 668 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26075792 |
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NCBI chr16:31,060,847...31,074,240
Ensembl chr16:31,060,843...31,074,240
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G |
RB1 |
RB transcriptional corepressor 1 |
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IAGP |
DNA:mutations:promoter, intron, exon:multiple ClinVar Annotator: match by term: Hereditary retinoblastoma |
ClinVar RGD |
PMID:7881418 PMID:8346255 PMID:8605116 PMID:8651278 PMID:9536098 PMID:9671401 PMID:10486322 PMID:10617920 PMID:10671068 PMID:11668642 PMID:12541220 PMID:15884040 PMID:16269091 PMID:17096365 PMID:17576681 PMID:18449911 PMID:18677112 PMID:22084214 PMID:25741868 PMID:25754945 PMID:28492532 PMID:17096365 More...
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RGD:8547984 |
NCBI chr13:48,303,751...48,481,890
Ensembl chr13:48,303,744...48,599,436
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G |
KRAS |
KRAS proto-oncogene, GTPase |
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IEP |
mRNA:decreased expression:brain |
RGD |
PMID:19179066 |
RGD:13702872 |
NCBI chr12:25,205,246...25,250,929
Ensembl chr12:25,205,246...25,250,936
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G |
ACTR3 |
actin related protein 3 |
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IEP |
mRNA:increased expression:brain (human) |
RGD |
PMID:25682201 |
RGD:11570557 |
NCBI chr 2:113,889,934...113,962,596
Ensembl chr 2:113,890,063...113,962,596
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G |
ADGRB1 |
adhesion G protein-coupled receptor B1 |
treatment |
IDA IEP |
mRNA:decreased expression:brain: |
RGD |
PMID:16244591 PMID:12507886 |
RGD:13831352, RGD:13831355 |
NCBI chr 8:142,449,649...142,545,007
Ensembl chr 8:142,449,430...142,545,009
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G |
ADGRL4 |
adhesion G protein-coupled receptor L4 |
treatment severity |
ISO IEP |
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RGD |
PMID:27416955 PMID:23096411 PMID:23096411 |
RGD:13838664, RGD:13838665, RGD:13838665 |
NCBI chr 1:78,889,764...79,006,730
Ensembl chr 1:78,889,764...79,282,124
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G |
AKT1 |
AKT serine/threonine kinase 1 |
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ISO |
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RGD |
PMID:10802656 |
RGD:734543 |
NCBI chr14:104,769,349...104,795,748
Ensembl chr14:104,769,349...104,795,751
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G |
AKT3 |
AKT serine/threonine kinase 3 |
disease_progression |
IDA |
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RGD |
PMID:27422127 |
RGD:13674164 |
NCBI chr 1:243,488,233...243,851,079
Ensembl chr 1:243,488,233...243,851,079
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G |
APC |
APC regulator of WNT signaling pathway |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:7661930 |
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NCBI chr 5:112,707,498...112,846,239
Ensembl chr 5:112,707,518...112,846,239
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G |
ARRB2 |
arrestin beta 2 |
ameliorates |
IDA |
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RGD |
PMID:34007068 |
RGD:401938608 |
NCBI chr17:4,710,632...4,721,497
Ensembl chr17:4,710,596...4,721,499
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G |
ASPM |
assembly factor for spindle microtubules |
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IEP |
mRNA:increased expression:brain: |
RGD |
PMID:18636190 |
RGD:13439742 |
NCBI chr 1:197,084,127...197,146,669
Ensembl chr 1:197,084,121...197,146,694
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G |
ATM |
ATM serine/threonine kinase |
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IAGP |
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 chr11:108,223,067...108,369,102
Ensembl chr11:108,222,823...108,369,102
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G |
ATRX |
ATRX chromatin remodeler |
disease_progression |
IEP IAGP |
ClinVar Annotator: match by term: Glioblastoma multiforme, somatic |
ClinVar RGD |
PMID:27478330 |
RGD:13442489 |
NCBI chr X:77,504,880...77,786,216
Ensembl chr X:77,504,880...77,786,233
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G |
BAG3 |
BAG cochaperone 3 |
treatment |
ISO |
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RGD |
PMID:21561597 |
RGD:5687132 |
NCBI chr10:119,651,380...119,677,819
Ensembl chr10:119,651,380...119,677,819
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G |
BCHE |
butyrylcholinesterase |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:2317787 |
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NCBI chr 3:165,772,904...165,837,423
Ensembl chr 3:165,772,904...165,837,462
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G |
BECN1 |
beclin 1 |
disease_progression |
IEP |
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RGD |
PMID:20863706 |
RGD:6483102 |
NCBI chr17:42,810,132...42,824,282
Ensembl chr17:42,810,134...42,833,350
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G |
BHLHE40 |
basic helix-loop-helix family member e40 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23582323 |
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NCBI chr 3:4,979,437...4,985,323
Ensembl chr 3:4,979,437...4,985,323
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G |
BIRC3 |
baculoviral IAP repeat containing 3 |
exacerbates |
HEP |
mRNA:increased expression:brain (human) |
RGD |
PMID:31964418 |
RGD:153344516 |
NCBI chr11:102,317,484...102,339,403
Ensembl chr11:102,317,484...102,339,403
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G |
BMI1 |
BMI1 proto-oncogene, polycomb ring finger |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19823589 |
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NCBI chr10:22,321,099...22,331,484
Ensembl chr10:22,321,099...22,331,484
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G |
BRAF |
B-Raf proto-oncogene, serine/threonine kinase |
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IAGP |
ClinVar Annotator: match by term: Glioblastoma |
ClinVar |
PMID:12068308 PMID:12198537 PMID:12447372 PMID:12460918 PMID:12460919 PMID:12619120 PMID:12644542 PMID:12670889 PMID:12794760 PMID:12960123 PMID:14513361 PMID:14602780 PMID:14679157 PMID:15001635 PMID:15035987 PMID:15126572 PMID:15181070 PMID:15342696 PMID:15356022 PMID:15386408 PMID:15687339 PMID:15998781 PMID:16015629 PMID:16174717 PMID:16187918 PMID:16439621 PMID:16474404 PMID:16772349 PMID:16825433 PMID:17374713 PMID:17488796 PMID:17785355 PMID:18039235 PMID:18398503 PMID:18413255 PMID:19001320 PMID:19010912 PMID:19018267 PMID:19238210 PMID:19376813 PMID:19404918 PMID:19537845 PMID:19561230 PMID:19571295 PMID:20008640 PMID:20350999 PMID:20413299 PMID:20619739 PMID:20630094 PMID:20818844 PMID:20823850 PMID:20857202 PMID:21107320 PMID:21107323 PMID:21129611 PMID:21156289 PMID:21163703 PMID:21426297 PMID:21483012 PMID:21502544 PMID:21639808 PMID:21641636 PMID:21683865 PMID:21975775 PMID:22038996 PMID:22039425 PMID:22048237 PMID:22113612 PMID:22180495 PMID:22281684 PMID:22310681 PMID:22351686 PMID:22356324 PMID:22389471 PMID:22448344 PMID:22536370 PMID:22586120 PMID:22608338 PMID:22649091 PMID:22663011 PMID:22735384 PMID:22743296 PMID:22773810 PMID:22805292 PMID:22972589 PMID:22997239 PMID:23020132 PMID:23031422 PMID:23251002 PMID:23302800 PMID:23325582 PMID:23470635 PMID:23524406 PMID:23549875 PMID:23614898 PMID:23685455 PMID:23812671 PMID:23833300 PMID:23845441 PMID:23918947 PMID:24033266 PMID:24107445 PMID:24112392 PMID:24163374 PMID:24388723 PMID:24508103 PMID:24512911 PMID:24576830 PMID:24583796 PMID:24586605 PMID:24594804 PMID:24670642 PMID:24717435 PMID:25024077 PMID:25037139 PMID:25079330 PMID:25157968 PMID:25265492 PMID:25265494 PMID:25370471 PMID:25399551 PMID:25463315 PMID:25741868 PMID:25950823 PMID:25989278 PMID:26619011 PMID:26678033 PMID:27404270 PMID:27480103 PMID:28492532 PMID:28854169 PMID:28891408 PMID:29925953 PMID:31779674 PMID:31891627 PMID:34476331 More...
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NCBI chr 7:140,713,328...140,924,929
Ensembl chr 7:140,719,327...140,924,929
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G |
BRD2 |
bromodomain containing 2 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27388964 |
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NCBI chr 6:32,968,594...32,981,505
Ensembl chr 6:32,968,594...32,981,505
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G |
BRD4 |
bromodomain containing 4 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26455392 PMID:27388964 |
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NCBI chr19:15,235,519...15,332,539
Ensembl chr19:15,235,519...15,332,545
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G |
BRD7 |
bromodomain containing 7 |
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IEP |
protein:increased expression:brain: |
RGD |
PMID:24404152 |
RGD:9586441 |
NCBI chr16:50,315,957...50,368,988
Ensembl chr16:50,313,487...50,368,988
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G |
C11orf65 |
chromosome 11 open reading frame 65 |
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IAGP |
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 chr11:108,308,519...108,469,881
Ensembl chr11:108,308,519...108,467,531
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G |
CBX6 |
chromobox 6 |
disease_progression |
IEP |
mRNA,protein:decreased expression:astrocyte: |
RGD |
PMID:24260522 |
RGD:9587354 |
NCBI chr22:38,861,422...38,872,216
Ensembl chr22:38,861,422...38,872,249
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G |
CBX7 |
chromobox 7 |
disease_progression |
IEP |
mRNA,protein:decreased expression:astrocyte: |
RGD |
PMID:24260522 |
RGD:9587354 |
NCBI chr22:39,130,772...39,152,680
Ensembl chr22:39,120,167...39,152,680
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G |
CBX8 |
chromobox 8 |
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IEP |
mRNA:increased expression:astrocyte: |
RGD |
PMID:24260522 |
RGD:9587354 |
NCBI chr17:79,792,132...79,797,077
Ensembl chr17:79,792,132...79,801,683
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G |
CCNH |
cyclin H |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30705370 |
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NCBI chr 5:87,311,471...87,412,930
Ensembl chr 5:87,318,416...87,413,029
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G |
CD9 |
CD9 molecule |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26573230 |
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NCBI chr12:6,199,946...6,238,266
Ensembl chr12:6,199,715...6,238,271
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G |
CDK4 |
cyclin dependent kinase 4 |
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IAGP |
DNA:amplication |
RGD |
PMID:23796897 |
RGD:13702089 |
NCBI chr12:57,747,727...57,752,310
Ensembl chr12:57,747,727...57,756,013
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G |
CDK6 |
cyclin dependent kinase 6 |
severity |
EXP IEP |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:20534551 PMID:10884881 |
RGD:13702095 |
NCBI chr 7:92,604,921...92,836,573
Ensembl chr 7:92,604,921...92,836,573
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G |
CDKN2A |
cyclin dependent kinase inhibitor 2A |
treatment |
IMP |
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RGD |
PMID:10720483 |
RGD:8552659 |
NCBI chr 9:21,967,752...21,995,324
Ensembl chr 9:21,967,752...21,995,301
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G |
CHAF1B |
chromatin assembly factor 1 subunit B |
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IEP |
protein:increased expression:brain: |
RGD |
PMID:24039914 |
RGD:9587472 |
NCBI chr21:36,385,392...36,419,015
Ensembl chr21:36,385,392...36,419,015
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G |
CHI3L1 |
chitinase 3 like 1 |
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IEP EXP |
mRNA:increased expression:brain, tumor (human) CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:21029458 PMID:11161003 |
RGD:4892621 |
NCBI chr 1:203,178,931...203,186,704
Ensembl chr 1:203,178,931...203,186,704
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G |
CPEB1 |
cytoplasmic polyadenylation element binding protein 1 |
disease_progression |
ISO |
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RGD |
PMID:23360795 |
RGD:9685152 |
NCBI chr15:82,543,201...82,648,795
Ensembl chr15:82,543,201...82,648,861
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G |
CREBBP |
CREB binding protein |
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IAGP |
ClinVar Annotator: match by term: Glioblastoma |
ClinVar |
PMID:21390126 PMID:21680795 PMID:21796119 PMID:22832583 PMID:23334668 PMID:23685749 PMID:23778141 PMID:26087898 PMID:26619011 PMID:27257180 PMID:28492532 PMID:28970362 PMID:29551561 PMID:33560380 More...
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NCBI chr16:3,725,054...3,880,713
Ensembl chr16:3,725,054...3,880,713
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G |
CSTA |
cystatin A |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22287159 |
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NCBI chr 3:122,325,248...122,341,969
Ensembl chr 3:122,325,248...122,341,969
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G |
CSTB |
cystatin B |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22287159 |
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NCBI chr21:43,773,950...43,776,308
Ensembl chr21:43,772,511...43,776,330
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G |
CTNND2 |
catenin delta 2 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23917401 |
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NCBI chr 5:10,971,836...11,904,446
Ensembl chr 5:10,971,836...11,904,446
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G |
CTSB |
cathepsin B |
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IEP EXP |
protein:increased expression:glioma cell (human) CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:22287159 PMID:17898873 |
RGD:2315515 |
NCBI chr 8:11,842,524...11,868,087
Ensembl chr 8:11,842,524...11,869,533
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G |
CTSH |
cathepsin H |
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IEP |
protein:increased expression:brain |
RGD |
PMID:8640738 |
RGD:1549417 |
NCBI chr15:78,921,058...78,945,046
Ensembl chr15:78,921,058...78,949,574
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G |
CTSK |
cathepsin K |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25356585 |
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NCBI chr 1:150,796,208...150,808,260
Ensembl chr 1:150,794,880...150,809,577
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G |
CXCL8 |
C-X-C motif chemokine ligand 8 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16356833 |
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NCBI chr 4:73,740,569...73,743,716
Ensembl chr 4:73,740,519...73,743,716
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G |
DEUP1 |
deuterosome assembly protein 1 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30705370 |
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NCBI chr11:93,329,998...93,438,470
Ensembl chr11:93,329,971...93,438,487
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G |
DMBT1 |
deleted in malignant brain tumors 1 |
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IAGP |
DNA:deletion |
RGD |
PMID:9288095 |
RGD:1599778 |
NCBI chr10:122,560,754...122,643,736
Ensembl chr10:122,560,665...122,643,736
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G |
DNMT3A |
DNA methyltransferase 3 alpha |
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IAGP |
ClinVar Annotator: match by term: Glioblastoma |
ClinVar |
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NCBI chr 2:25,227,874...25,342,590
Ensembl chr 2:25,227,855...25,342,590
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G |
DUSP6 |
dual specificity phosphatase 6 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21499306 |
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NCBI chr12:89,347,235...89,352,501
Ensembl chr12:89,347,235...89,352,501
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G |
E2F1 |
E2F transcription factor 1 |
disease_progression |
IEP |
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RGD |
PMID:16264179 |
RGD:13702471 |
NCBI chr20:33,675,477...33,686,385
Ensembl chr20:33,675,477...33,686,385
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G |
EGF |
epidermal growth factor |
susceptibility |
EXP IAGP |
CTD Direct Evidence: marker/mechanism DNA:polymorphism:promoter:+61A>G(human) |
CTD RGD |
PMID:16598420 PMID:22481252 |
RGD:13702472 |
NCBI chr 4:109,912,883...110,013,766
Ensembl chr 4:109,912,883...110,013,766
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G |
EGFR |
epidermal growth factor receptor |
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IAGP EXP |
ClinVar Annotator: match by term: Glioblastoma ClinVar Annotator: match by term: Glioblastoma multiforme, somatic CTD Direct Evidence: marker/mechanism |
ClinVar CTD |
PMID:2302402 PMID:15118073 PMID:15118125 PMID:15329413 PMID:15710947 PMID:15738541 PMID:16011858 PMID:16115929 PMID:17177598 PMID:18199554 PMID:18458038 PMID:19204207 PMID:19536777 PMID:19671738 PMID:19922469 PMID:20479403 PMID:21531810 PMID:21841502 PMID:22753918 PMID:23102728 PMID:23242437 PMID:23917401 PMID:23945392 PMID:24033266 PMID:25157968 PMID:26455392 PMID:26619011 PMID:28492532 PMID:31396478 More...
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NCBI chr 7:55,019,017...55,211,628
Ensembl chr 7:55,019,017...55,211,628
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G |
ENPP1 |
ectonucleotide pyrophosphatase/phosphodiesterase 1 |
severity |
IEP |
protein:increased expression:brain (human) |
RGD |
PMID:21195542 |
RGD:13204719 |
NCBI chr 6:131,808,020...131,895,155
Ensembl chr 6:131,808,016...131,895,155
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G |
EZH2 |
enhancer of zeste 2 polycomb repressive complex 2 subunit |
treatment |
IMP |
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RGD |
PMID:25595591 |
RGD:14928319 |
NCBI chr 7:148,807,383...148,884,291
Ensembl chr 7:148,807,257...148,884,321
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G |
FABP7 |
fatty acid binding protein 7 |
severity |
IEP |
mRNA, protein:increased expression:brain (human) |
RGD |
PMID:15827123 |
RGD:1578468 |
NCBI chr 6:122,749,201...122,784,074
Ensembl chr 6:122,779,716...122,784,074
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G |
FAM83D |
family with sequence similarity 83 member D |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:35150198 |
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NCBI chr20:38,926,417...38,953,106
Ensembl chr20:38,926,312...38,953,106
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G |
FAT1 |
FAT atypical cadherin 1 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23354438 |
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NCBI chr 4:186,587,794...186,726,696
Ensembl chr 4:186,587,794...186,726,722
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G |
FBXW7 |
F-box and WD repeat domain containing 7 |
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IAGP |
ClinVar Annotator: match by term: Glioblastoma |
ClinVar |
PMID:26619011 |
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NCBI chr 4:152,320,544...152,536,092
Ensembl chr 4:152,320,544...152,536,092
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G |
FGFR1 |
fibroblast growth factor receptor 1 |
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IAGP |
ClinVar Annotator: match by term: Glioblastoma |
ClinVar |
PMID:25705862 PMID:26619011 PMID:26942290 PMID:33448156 |
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NCBI chr 8:38,411,143...38,468,635
Ensembl chr 8:38,400,215...38,468,834
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G |
FLT3LG |
fms related receptor tyrosine kinase 3 ligand |
treatment |
IMP |
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RGD |
PMID:18079358 |
RGD:11049502 |
NCBI chr19:49,474,215...49,486,231
Ensembl chr19:49,474,207...49,486,231
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G |
FN1 |
fibronectin 1 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17099729 |
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NCBI chr 2:215,360,865...215,436,068
Ensembl chr 2:215,360,440...215,436,073
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G |
FOSL2 |
FOS like 2, AP-1 transcription factor subunit |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23582323 |
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NCBI chr 2:28,392,858...28,417,317
Ensembl chr 2:28,392,448...28,417,317
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G |
FXN |
frataxin |
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IMP |
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RGD |
PMID:21863062 |
RGD:401793715 |
NCBI chr 9:69,035,752...69,079,076
Ensembl chr 9:69,035,751...69,079,076
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G |
GDNF |
glial cell derived neurotrophic factor |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19138852 |
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NCBI chr 5:37,812,677...37,840,041
Ensembl chr 5:37,812,677...37,840,041
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G |
GRIK2 |
glutamate ionotropic receptor kainate type subunit 2 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30705370 |
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NCBI chr 6:101,393,708...102,070,083
Ensembl chr 6:100,962,701...102,081,622
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G |
GSTT1 |
glutathione S-transferase theta 1 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16874663 |
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G |
H2AX |
H2A.X variant histone |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26651356 |
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NCBI chr11:119,093,874...119,095,465
Ensembl chr11:119,093,874...119,095,465
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G |
H3-3A |
H3.3 histone A |
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IAGP EXP |
ClinVar Annotator: match by term: Glioblastoma CTD Direct Evidence: marker/mechanism |
ClinVar CTD |
PMID:22286216 PMID:23817572 PMID:26619011 PMID:26822237 |
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NCBI chr 1:226,061,831...226,072,019
Ensembl chr 1:226,061,851...226,072,019
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G |
H3C2 |
H3 clustered histone 2 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22286216 |
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NCBI chr 6:26,031,589...26,032,099
Ensembl chr 6:26,031,589...26,032,099
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G |
HEATR1 |
HEAT repeat containing 1 |
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IEP |
mRNA, protein:increased expression:brain |
RGD |
PMID:25126583 |
RGD:10761721 |
NCBI chr 1:236,549,005...236,604,516
Ensembl chr 1:236,549,005...236,604,516
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G |
HES1 |
hes family bHLH transcription factor 1 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21127729 |
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NCBI chr 3:194,136,148...194,138,732
Ensembl chr 3:194,136,148...194,138,732
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G |
HEY1 |
hes related family bHLH transcription factor with YRPW motif 1 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21127729 |
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NCBI chr 8:79,764,010...79,767,767
Ensembl chr 8:79,762,371...79,767,857
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G |
HIF1A |
hypoxia inducible factor 1 subunit alpha |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:12811834 |
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NCBI chr14:61,695,513...61,748,258
Ensembl chr14:61,695,513...61,748,259
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G |
HOXD10 |
homeobox D10 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:34737577 |
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NCBI chr 2:176,116,778...176,119,937
Ensembl chr 2:176,108,790...176,119,937
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G |
HRAS |
HRas proto-oncogene, GTPase |
severity |
ISO IAGP IEP |
DNA:missense mutation:cds:p.G61L(human) ClinVar Annotator: match by term: Glioblastoma |
ClinVar RGD |
PMID:11150980 PMID:16155195 PMID:16170316 PMID:16329078 PMID:16372351 PMID:16443854 PMID:16835863 PMID:16881968 PMID:16969868 PMID:17054105 PMID:17412879 PMID:17601930 PMID:17979197 PMID:18039947 PMID:18042262 PMID:18247425 PMID:18978862 PMID:19206176 PMID:19371735 PMID:19382114 PMID:19669404 PMID: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:25815234 PMID:25914166 PMID:26467025 PMID:26619011 PMID:26778095 PMID:27195699 PMID:27589201 PMID:28027064 PMID:28139825 PMID:28492532 PMID:29493581 PMID:30055033 PMID:30138938 PMID:31394527 PMID:31560489 PMID:31564432 PMID:31775759 PMID:32165824 PMID:32371413 PMID:33372952 PMID:34008892 PMID:20879984 PMID:19179066 More...
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RGD:13702475, RGD:13702872 |
NCBI chr11:532,242...535,576
Ensembl chr11:532,242...537,321
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G |
IDH1 |
isocitrate dehydrogenase (NADP(+)) 1 |
disease_progression onset |
IAGP |
DNA:mutation:cds:p.R132(human) ClinVar Annotator: match by term: Glioblastoma, somatic DNA:mutation:cds:p.R132H(human) |
ClinVar RGD |
PMID:18772396 PMID:19657110 PMID:19798509 PMID:19818334 PMID:20946881 PMID:21352804 PMID:21446021 PMID:22160010 PMID:22397365 PMID:22417203 PMID:22898539 PMID:23558169 PMID:24606448 PMID:25043048 PMID:25157968 PMID:25741868 PMID:26619011 PMID:27993330 PMID:30231226 PMID:36201590 PMID:25495392 PMID:19765000 More...
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RGD:11074562, RGD:11522732 |
NCBI chr 2:208,236,227...208,255,071
Ensembl chr 2:208,236,229...208,266,074
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G |
IFNA2 |
interferon alpha 2 |
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EXP |
CTD Direct Evidence: therapeutic |
CTD |
PMID:18679580 |
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NCBI chr 9:21,384,255...21,385,398
Ensembl chr 9:21,384,255...21,385,398
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G |
IL16 |
interleukin 16 |
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ISO |
protein:increased expression:brain |
RGD |
PMID:17221335 |
RGD:5024941 |
NCBI chr15:81,182,712...81,314,058
Ensembl chr15:81,159,575...81,314,058
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G |
IL1B |
interleukin 1 beta |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16356833 |
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NCBI chr 2:112,829,751...112,836,779
Ensembl chr 2:112,829,751...112,836,816
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G |
IL2 |
interleukin 2 |
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EXP |
CTD Direct Evidence: therapeutic |
CTD |
PMID:7719933 |
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NCBI chr 4:122,451,470...122,456,725
Ensembl chr 4:122,451,470...122,456,725
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G |
JAG1 |
jagged canonical Notch ligand 1 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21127729 |
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NCBI chr20:10,637,684...10,673,999
Ensembl chr20:10,637,684...10,673,999
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G |
JAG2 |
jagged canonical Notch ligand 2 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21127729 |
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NCBI chr14:105,140,995...105,168,776
Ensembl chr14:105,140,982...105,168,824
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G |
KCNC2 |
potassium voltage-gated channel subfamily C member 2 |
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IEP |
mRNA:splice variant (human) |
RGD |
PMID:18474104 |
RGD:9686067 |
NCBI chr12:75,040,078...75,209,839
Ensembl chr12:75,040,077...75,209,839
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G |
KDR |
kinase insert domain receptor |
treatment |
IMP |
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RGD |
PMID:26325365 |
RGD:11529678 |
NCBI chr 4:55,078,481...55,125,595
Ensembl chr 4:55,078,481...55,125,595
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G |
KRAS |
KRAS proto-oncogene, GTPase |
treatment |
ISO IEP |
mRNA:decreased expression:brain |
RGD |
PMID:16166301 PMID:19179066 |
RGD:13702861, RGD:13702872 |
NCBI chr12:25,205,246...25,250,929
Ensembl chr12:25,205,246...25,250,936
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G |
L1CAM |
L1 cell adhesion molecule |
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IEP |
mRNA:decreased expression:brain, temporal lobe (human) |
RGD |
PMID:20419098 |
RGD:6483067 |
NCBI chr X:153,861,514...153,886,173
Ensembl chr X:153,861,514...153,886,173
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G |
LRRC56 |
leucine rich repeat containing 56 |
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IAGP |
ClinVar Annotator: match by term: Glioblastoma |
ClinVar |
PMID:11150980 PMID:16155195 PMID:16170316 PMID:16329078 PMID:16372351 PMID:16443854 PMID:16835863 PMID:16881968 PMID:16969868 PMID:17054105 PMID:17412879 PMID:17601930 PMID:17979197 PMID:18039947 PMID:18042262 PMID:18247425 PMID:18978862 PMID:19206176 PMID:19371735 PMID:19382114 PMID:19669404 PMID: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:25815234 PMID:25914166 PMID:26467025 PMID:26619011 PMID:26778095 PMID:27195699 PMID:27589201 PMID:28027064 PMID:28139825 PMID:28492532 PMID:29493581 PMID:30055033 PMID:30138938 PMID:31394527 PMID:31560489 PMID:31564432 PMID:31775759 PMID:32165824 PMID:32371413 PMID:33372952 PMID:34008892 More...
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NCBI chr11:506,462...554,912
Ensembl chr11:537,527...554,912
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G |
LRRC59 |
leucine rich repeat containing 59 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30705370 |
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NCBI chr17:50,381,238...50,397,523
Ensembl chr17:50,375,059...50,397,523
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G |
LTBP4 |
latent transforming growth factor beta binding protein 4 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27270107 |
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NCBI chr19:40,593,166...40,629,820
Ensembl chr19:40,592,883...40,629,818
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G |
LZTR1 |
leucine zipper like post translational regulator 1 |
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EXP IAGP |
CTD Direct Evidence: marker/mechanism DNA:mutations:multiple (human) |
CTD RGD |
PMID:23917401 PMID:23917401 |
RGD:151708722 |
NCBI chr22:20,982,297...20,999,032
Ensembl chr22:20,982,269...20,999,032
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G |
MACIR |
macrophage immunometabolism regulator |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30705370 |
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NCBI chr 5:103,258,374...103,278,660
Ensembl chr 5:103,258,763...103,278,660
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G |
MAP1LC3A |
microtubule associated protein 1 light chain 3 alpha |
treatment |
IDA |
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RGD |
PMID:24905460 |
RGD:11561946 |
NCBI chr20:34,546,844...34,560,345
Ensembl chr20:34,546,854...34,560,345
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G |
MAP2K2 |
mitogen-activated protein kinase kinase 2 |
treatment |
IEP |
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RGD |
PMID:26189368 |
RGD:13702862 |
NCBI chr19:4,090,321...4,124,122
Ensembl chr19:4,090,321...4,124,122
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G |
MAP2K3 |
mitogen-activated protein kinase kinase 3 |
disease_progression |
IEP |
protein:increased expression, increased phosphorylation:brain |
RGD |
PMID:17406030 |
RGD:1641940 |
NCBI chr17:21,284,711...21,315,240
Ensembl chr17:21,284,672...21,315,232
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G |
MDM2 |
MDM2 proto-oncogene |
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IAGP |
DNA:amplication |
RGD |
PMID:23796897 |
RGD:13702089 |
NCBI chr12:68,808,172...68,850,686
Ensembl chr12:68,808,177...68,845,544
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G |
MDM4 |
MDM4 regulator of p53 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20472715 |
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NCBI chr 1:204,516,406...204,558,120
Ensembl chr 1:204,516,379...204,558,120
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G |
MED12 |
mediator complex subunit 12 |
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IAGP |
ClinVar Annotator: match by term: Glioblastoma |
ClinVar |
PMID:26822237 |
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NCBI chr X:71,118,596...71,142,450
Ensembl chr X:71,118,543...71,144,103
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G |
MET |
MET proto-oncogene, receptor tyrosine kinase |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22162573 |
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NCBI chr 7:116,672,196...116,798,377
Ensembl chr 7:116,672,196...116,798,377
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G |
MGMT |
O-6-methylguanine-DNA methyltransferase |
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IAGP EXP |
DNA:transition:cds:p.L84F (human) CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:20131314 PMID:22162573 PMID:14669534 |
RGD:2317667 |
NCBI chr10:129,467,241...129,770,983
Ensembl chr10:129,467,190...129,770,983
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G |
MIR21 |
microRNA 21 |
ameliorates |
ISO |
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RGD |
PMID:31730913 |
RGD:41404645 |
NCBI chr17:59,841,266...59,841,337
Ensembl chr17:59,841,266...59,841,337
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G |
MIR31 |
microRNA 31 |
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IEP |
RNA:decreased expression:brain (human) |
RGD |
PMID:22089331 |
RGD:152998941 |
NCBI chr 9:21,512,115...21,512,185
Ensembl chr 9:21,512,115...21,512,185
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G |
MIR518B |
microRNA 518b |
disease_progression |
IEP |
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RGD |
PMID:28849154 |
RGD:13703042 |
NCBI chr19:53,702,737...53,702,819
Ensembl chr19:53,702,737...53,702,819
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G |
MIR663A |
microRNA 663a |
disease_progression |
IEP |
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RGD |
PMID:24523440 |
RGD:13782051 |
NCBI chr20:26,208,186...26,208,278
Ensembl chr20:26,208,186...26,208,278
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G |
MMP2 |
matrix metallopeptidase 2 |
severity |
IEP EXP |
protein:increased expression:brain (human) CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:16598420 PMID:7616276 |
RGD:7207145 |
NCBI chr16:55,478,830...55,506,691
Ensembl chr16:55,389,700...55,506,691
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G |
MMP7 |
matrix metallopeptidase 7 |
severity |
IEP |
protein:increased expression:brain (human) |
RGD |
PMID:7616276 |
RGD:7207145 |
NCBI chr11:102,520,508...102,530,747
Ensembl chr11:102,520,508...102,530,750
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G |
MMP9 |
matrix metallopeptidase 9 |
severity treatment |
IEP EXP IMP |
protein:increased expression:brain (human) CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:16598420 PMID:7616276 PMID:12439751 |
RGD:7207145, RGD:8547973 |
NCBI chr20:46,008,908...46,016,561
Ensembl chr20:46,008,908...46,016,561
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G |
MSH2 |
mutS homolog 2 |
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IAGP |
ClinVar Annotator: match by term: Glioblastoma |
ClinVar |
PMID:25741868 |
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NCBI chr 2:47,403,067...47,709,830
Ensembl chr 2:47,403,067...47,663,146
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G |
MTOR |
mechanistic target of rapamycin kinase |
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IAGP EXP |
ClinVar Annotator: match by term: Glioblastoma CTD Direct Evidence: marker/mechanism |
ClinVar CTD |
PMID:20190810 PMID:22729223 PMID:24631838 PMID:25599672 PMID:25741868 PMID:25799227 PMID:26018084 PMID:26619011 PMID:27159400 PMID:27830187 PMID:28492532 PMID:28864461 PMID:28892148 PMID:29281825 PMID:30705370 More...
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NCBI chr 1:11,106,535...11,262,551
Ensembl chr 1:11,106,535...11,262,556
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G |
MYC |
MYC proto-oncogene, bHLH transcription factor |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21127729 |
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NCBI chr 8:127,735,434...127,742,951
Ensembl chr 8:127,735,434...127,742,951
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G |
MYCN |
MYCN proto-oncogene, bHLH transcription factor |
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IAGP |
ClinVar Annotator: match by term: Glioblastoma |
ClinVar |
PMID:26619011 |
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NCBI chr 2:15,940,550...15,947,004
Ensembl chr 2:15,940,550...15,947,007
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G |
MYCNOS |
MYCN opposite strand |
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IAGP |
ClinVar Annotator: match by term: Glioblastoma |
ClinVar |
PMID:26619011 |
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NCBI chr 2:15,936,265...15,942,433
Ensembl chr 2:15,918,350...15,942,249
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G |
NCOR1 |
nuclear receptor corepressor 1 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17312396 |
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NCBI chr17:16,029,157...16,215,534
Ensembl chr17:16,029,065...16,218,185
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G |
NDRG1 |
N-myc downstream regulated 1 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15341671 |
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NCBI chr 8:133,237,175...133,297,252
Ensembl chr 8:133,237,175...133,302,022
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G |
NDRG4 |
NDRG family member 4 |
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IEP |
mRNA, protein:decreased expression:brain |
RGD |
PMID:22489821 |
RGD:7247726 |
NCBI chr16:58,463,715...58,515,387
Ensembl chr16:58,462,846...58,513,628
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G |
NF1 |
neurofibromin 1 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25119042 |
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NCBI chr17:31,094,927...31,377,677
Ensembl chr17:31,094,927...31,382,116
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G |
NFKBIA |
NFKB inhibitor alpha |
treatment |
IMP |
human cell line in a mouse model |
RGD |
PMID:15692608 |
RGD:127285387 |
NCBI chr14:35,401,513...35,404,749
Ensembl chr14:35,401,079...35,404,749
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G |
NOTCH1 |
notch receptor 1 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21127729 |
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NCBI chr 9:136,494,433...136,546,048
Ensembl chr 9:136,494,433...136,546,048
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G |
NOTCH2 |
notch receptor 2 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21127729 |
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NCBI chr 1:119,911,553...120,069,662
Ensembl chr 1:119,911,553...120,100,779
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G |
NOTCH3 |
notch receptor 3 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21127729 |
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NCBI chr19:15,159,038...15,200,995
Ensembl chr19:15,159,038...15,200,995
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G |
NRAS |
NRAS proto-oncogene, GTPase |
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IAGP |
ClinVar Annotator: match by term: Glioblastoma DNA:amplication:: DNA:mutation:cds:c.35G>A, p.G12D(human) |
ClinVar RGD |
PMID:1654209 PMID:2278970 PMID:2674680 PMID:3122217 PMID:6587382 PMID:8120410 PMID:10821536 PMID:12460918 PMID:12727991 PMID:14508525 PMID:15899789 PMID:16273091 PMID:16291983 PMID:16434492 PMID:17699718 PMID:18390968 PMID:18633438 PMID:18668139 PMID:18948947 PMID:19075190 PMID:19657110 PMID:19880792 PMID:19966803 PMID:20130576 PMID:20149136 PMID:20179705 PMID:20406486 PMID:20619739 PMID:20736745 PMID:21107323 PMID:21305640 PMID:21576590 PMID:21729679 PMID:21829508 PMID:22407852 PMID:22499344 PMID:22718121 PMID:22761467 PMID:22773810 PMID:23076151 PMID:23392294 PMID:23400451 PMID:23414587 PMID:23515407 PMID:23538902 PMID:23569304 PMID:23614898 PMID:24006476 PMID:24033266 PMID:24148783 PMID:24370118 PMID:24671188 PMID:25157968 PMID:25348872 PMID:25695684 PMID:25741868 PMID:26619011 PMID:26821351 PMID:27050078 PMID:28492532 PMID:28780248 PMID:11351043 PMID:15517309 More...
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RGD:13702876, RGD:13702875 |
NCBI chr 1:114,704,469...114,716,771
Ensembl chr 1:114,704,469...114,716,771
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G |
PDGFB |
platelet derived growth factor subunit B |
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IMP |
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RGD |
PMID:21210235 |
RGD:6482799 |
NCBI chr22:39,223,359...39,244,982
Ensembl chr22:39,223,359...39,244,982
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G |
PDGFRB |
platelet derived growth factor receptor beta |
treatment |
IMP |
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RGD |
PMID:24566984 |
RGD:13702903 |
NCBI chr 5:150,113,839...150,155,845
Ensembl chr 5:150,113,839...150,155,872
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G |
PDPN |
podoplanin |
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IEP |
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RGD |
PMID:16979138 |
RGD:2292241 |
NCBI chr 1:13,583,757...13,617,957
Ensembl chr 1:13,583,465...13,617,957
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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 chr17:64,319,415...64,390,860
Ensembl chr17:64,319,415...64,413,776
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G |
PGF |
placental growth factor |
disease_progression |
IDA |
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RGD |
PMID:20458050 |
RGD:6483585 |
NCBI chr14:74,941,830...74,955,764
Ensembl chr14:74,941,834...74,955,626
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G |
PIK3CA |
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha |
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IAGP |
ClinVar Annotator: match by term: Glioblastoma ClinVar Annotator: match by term: Glioblastoma multiforme, somatic |
ClinVar |
PMID:15016963 PMID:15254419 PMID:15520168 PMID:15608678 PMID:15647370 PMID:15805248 PMID:15930273 PMID:16353168 PMID:16906227 PMID:16930767 PMID:17376864 PMID:17673550 PMID:18074223 PMID:18371219 PMID:18676830 PMID:18725974 PMID:19029981 PMID:19223544 PMID:19366826 PMID:19513541 PMID:19671852 PMID:19903786 PMID:20177704 PMID:20453058 PMID:20581867 PMID:20593314 PMID:20619739 PMID:21078999 PMID:21430269 PMID:21558396 PMID:21824802 PMID:22120714 PMID:22162582 PMID:22162589 PMID:22209294 PMID:22271473 PMID:22357840 PMID:22370636 PMID:22658544 PMID:22729222 PMID:22729223 PMID:22729224 PMID:22949682 PMID:23066039 PMID:23100325 PMID:23246288 PMID:23408298 PMID:23888070 PMID:23946963 PMID:24033266 PMID:24265155 PMID:24559322 PMID:24782230 PMID:25157968 PMID:25599672 PMID: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: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:37712948 More...
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NCBI chr 3:179,148,126...179,240,093
Ensembl chr 3:179,148,114...179,240,093
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G |
PIK3CB |
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta |
disease_progression |
IEP IMP |
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RGD |
PMID:26956052 PMID:21188471 |
RGD:11343921, RGD:13782050 |
NCBI chr 3:138,652,698...138,834,928
Ensembl chr 3:138,652,698...138,834,928
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G |
PIK3CD |
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta |
disease_progression |
IEP |
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RGD |
PMID:24523440 |
RGD:13782051 |
NCBI chr 1:9,627,258...9,729,114
Ensembl chr 1:9,629,889...9,729,114
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G |
PIK3R1 |
phosphoinositide-3-kinase regulatory subunit 1 |
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IAGP |
ClinVar Annotator: match by term: Glioblastoma |
ClinVar |
PMID:19962457 PMID:25157968 PMID:26619011 |
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NCBI chr 5:68,215,756...68,301,821
Ensembl chr 5:68,215,740...68,301,821
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G |
PIM1 |
Pim-1 proto-oncogene, serine/threonine kinase |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23724780 |
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NCBI chr 6:37,170,152...37,175,428
Ensembl chr 6:37,170,152...37,175,428
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G |
PML |
PML nuclear body scaffold |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23440206 |
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NCBI chr15:73,994,716...74,047,827
Ensembl chr15:73,994,673...74,047,827
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G |
POLE |
DNA polymerase epsilon, catalytic subunit |
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IAGP |
ClinVar Annotator: match by term: Glioblastoma |
ClinVar |
PMID:25228659 PMID:26619011 PMID:27573199 PMID:28492532 PMID:29352080 |
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NCBI chr12:132,623,762...132,687,342
Ensembl chr12:132,623,753...132,687,376
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G |
POLK |
DNA polymerase kappa |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26651356 |
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NCBI chr 5:75,510,774...75,609,991
Ensembl chr 5:75,511,845...75,609,991
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G |
PPARG |
peroxisome proliferator activated receptor gamma |
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IAGP |
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:28492532 More...
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NCBI chr 3:12,287,368...12,434,344
Ensembl chr 3:12,287,368...12,434,356
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G |
PRKN |
parkin RBR E3 ubiquitin protein ligase |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19946270 |
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NCBI chr 6:161,347,417...162,727,766
Ensembl chr 6:161,347,417...162,727,775
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G |
PROM1 |
prominin 1 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18679414 PMID:18829568 PMID:19718438 |
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NCBI chr 4:15,968,228...16,084,023
Ensembl chr 4:15,963,076...16,084,378
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G |
PTEN |
phosphatase and tensin homolog |
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TAS IAGP |
ClinVar Annotator: match by term: Glioblastoma |
ClinVar RGD |
PMID:1336932 PMID:1945792 PMID:9140396 PMID:9241266 PMID:9259288 PMID:9399897 PMID:9467011 PMID:9598803 PMID:9915974 PMID:10400993 PMID:10555148 PMID:10866302 PMID:10920277 PMID:10923032 PMID:11051241 PMID:11504908 PMID:11875759 PMID:11948419 PMID:15016963 PMID:15211648 PMID:15254419 PMID:15647370 PMID:16773562 PMID:16952599 PMID:17526800 PMID:17526801 PMID:17873882 PMID:17942903 PMID:18558293 PMID:18725974 PMID:18767981 PMID:19340001 PMID:19351834 PMID:19366826 PMID:19457929 PMID:19458356 PMID:19829307 PMID:19903786 PMID:20018398 PMID:20085938 PMID:20300775 PMID:20301661 PMID:20453058 PMID:20619739 PMID:20881644 PMID:20926450 PMID:21190448 PMID:21194675 PMID:21659347 PMID:21822720 PMID:21824802 PMID:21828076 PMID:21956414 PMID:22162582 PMID:22162589 PMID:22266152 PMID:22320991 PMID:22327138 PMID:22479427 PMID:22491738 PMID:22595938 PMID:23335809 PMID:23349303 PMID:23361946 PMID:23399955 PMID:23470840 PMID:23475934 PMID:24292679 PMID:24778394 PMID:25157968 PMID:25288137 PMID:25527629 PMID:25741868 PMID:26467025 PMID:26619011 PMID:26773036 PMID:26798346 PMID:27147599 PMID:27426521 PMID:27477328 PMID:27535533 PMID:28286253 PMID:28475857 PMID:28492532 PMID:28526761 PMID:28677221 PMID:29359449 PMID:29706350 PMID:30311380 PMID:30528446 PMID:30614812 PMID:31159747 PMID:31336731 PMID:32350270 PMID:32442409 PMID:33077954 PMID:35227301 PMID:36988593 PMID:16847462 More...
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RGD:2290476 |
NCBI chr10:87,863,625...87,971,930
Ensembl chr10:87,862,638...87,971,930
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G |
PTGS1 |
prostaglandin-endoperoxide synthase 1 |
disease_progression |
IEP ISO |
protein:increased expression:microglia, macrophage, |
RGD |
PMID:11121536 PMID:10229132 |
RGD:5688245, RGD:5688250 |
NCBI chr 9:122,370,533...122,395,703
Ensembl chr 9:122,370,530...122,395,703
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G |
PTGS2 |
prostaglandin-endoperoxide synthase 2 |
disease_progression |
IEP ISO |
protein:increased expression:endothelial cell |
RGD |
PMID:11121536 PMID:10229132 |
RGD:5688245, RGD:5688250 |
NCBI chr 1:186,671,791...186,680,423
Ensembl chr 1:186,671,791...186,680,922
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G |
PTK2 |
protein tyrosine kinase 2 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:12811834 |
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NCBI chr 8:140,657,900...141,002,079
Ensembl chr 8:140,657,900...141,002,216
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G |
PTN |
pleiotrophin |
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IEP |
protein:increased expression:brain (human) |
RGD |
PMID:14692702 |
RGD:151660507 |
NCBI chr 7:137,227,341...137,343,733
Ensembl chr 7:137,227,341...137,343,774
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G |
PTPRB |
protein tyrosine phosphatase receptor type B |
treatment |
IMP IEP |
human cells in mouse model protein:increased expression:brain (human) |
RGD |
PMID:16489031 PMID:15831233 PMID:14692702 |
RGD:151660504, RGD:151664746, RGD:151660507 |
NCBI chr12:70,515,870...70,637,429
Ensembl chr12:70,515,870...70,637,440
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G |
RB1 |
RB transcriptional corepressor 1 |
severity |
IDA |
DNA:hypermethylation:promoter: |
RGD |
PMID:11204276 |
RGD:13782067 |
NCBI chr13:48,303,751...48,481,890
Ensembl chr13:48,303,744...48,599,436
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G |
RECK |
reversion inducing cysteine rich protein with kazal motifs |
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EXP |
CTD Direct Evidence: therapeutic |
CTD |
PMID:20127710 |
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NCBI chr 9:36,036,913...36,124,455
Ensembl chr 9:36,036,913...36,124,455
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G |
RPL35A |
ribosomal protein L35a |
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IEP |
mRNA:increased expression:brain (human) |
RGD |
PMID:10880769 |
RGD:11535077 |
NCBI chr 3:197,950,190...197,956,610
Ensembl chr 3:197,950,190...197,956,610
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G |
RPL5 |
ribosomal protein L5 |
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IAGP |
DNA:mutations:multiple (human) |
RGD |
PMID:26892688 |
RGD:11535147 |
NCBI chr 1:92,831,986...92,841,924
Ensembl chr 1:92,832,013...92,841,924
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G |
RUNX1 |
RUNX family transcription factor 1 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23582323 |
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NCBI chr21:34,787,801...35,049,302
Ensembl chr21:34,787,801...36,004,667
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G |
RUNX3 |
RUNX family transcription factor 3 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16909125 |
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NCBI chr 1:24,899,511...24,965,138
Ensembl chr 1:24,899,511...24,965,121
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G |
SEPTIN14 |
septin 14 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23917401 |
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NCBI chr 7:55,793,540...55,862,752
Ensembl chr 7:55,793,540...55,862,755
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G |
SERPING1 |
serpin family G member 1 |
treatment |
ISO |
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RGD |
PMID:28880870 |
RGD:13525003 |
NCBI chr11:57,597,685...57,614,848
Ensembl chr11:57,597,387...57,619,171
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G |
SLC22A10 |
solute carrier family 22 member 10 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30705370 |
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NCBI chr11:63,289,903...63,363,144
Ensembl chr11:63,268,022...63,311,783
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G |
SLC7A5 |
solute carrier family 7 member 5 |
disease_progression |
IEP |
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RGD |
PMID:16496379 |
RGD:151361115 |
NCBI chr16:87,830,023...87,869,507
Ensembl chr16:87,830,023...87,869,507
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G |
SLX4 |
SLX4 structure-specific endonuclease subunit |
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IAGP |
ClinVar Annotator: match by term: Glioblastoma multiforme |
ClinVar |
PMID:25741868 |
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NCBI chr16:3,581,181...3,611,606
Ensembl chr16:3,581,181...3,611,606
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G |
SRRT |
serrate, RNA effector molecule |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30542699 |
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NCBI chr 7:100,875,103...100,888,664
Ensembl chr 7:100,875,103...100,888,664
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G |
STAT3 |
signal transducer and activator of transcription 3 |
disease_progression |
IEP |
mRNA, protein:increased expression:brain (human) |
RGD |
PMID:31783691 |
RGD:151667907 |
NCBI chr17:42,313,324...42,388,442
Ensembl chr17:42,313,324...42,388,568
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G |
STAT5A |
signal transducer and activator of transcription 5A |
disease_progression treatment |
IEP |
mRNA, protein:increased expression:brain (human) human cells in mouse model |
RGD |
PMID:31783691 PMID:31783691 |
RGD:151667907, RGD:151667907 |
NCBI chr17:42,287,439...42,311,943
Ensembl chr17:42,287,547...42,311,943
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G |
SUZ12 |
SUZ12 polycomb repressive complex 2 subunit |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25119042 |
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NCBI chr17:31,937,007...32,001,038
Ensembl chr17:31,937,007...32,001,038
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G |
TES |
testin LIM domain protein |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16909125 |
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NCBI chr 7:116,210,539...116,258,783
Ensembl chr 7:116,210,506...116,258,783
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G |
TGM2 |
transglutaminase 2 |
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EXP |
CTD Direct Evidence: marker/mechanism|therapeutic |
CTD |
PMID:16170020 PMID:17099729 |
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NCBI chr20:38,127,385...38,168,475
Ensembl chr20:38,127,385...38,166,578
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G |
TMEM135 |
transmembrane protein 135 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30705370 |
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NCBI chr11:87,037,934...87,328,824
Ensembl chr11:87,037,844...87,328,824
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G |
TNC |
tenascin C |
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IEP |
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RGD |
PMID:16928692 |
RGD:4889612 |
NCBI chr 9:115,019,575...115,118,157
Ensembl chr 9:115,019,575...115,118,207
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G |
TNFSF10 |
TNF superfamily member 10 |
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EXP |
CTD Direct Evidence: therapeutic |
CTD |
PMID:21877938 |
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NCBI chr 3:172,505,508...172,523,430
Ensembl chr 3:172,505,508...172,523,475
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G |
TP53 |
tumor protein p53 |
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IAGP ISS |
ClinVar Annotator: match by term: Glioblastoma ClinVar Annotator: match by term: Glioblastoma, somatic |
ClinVar MouseDO |
PMID:253702 PMID:960674 PMID:1349175 PMID:1359493 PMID:1467311 PMID:1565143 PMID:1565144 PMID:1591732 PMID:1631137 PMID:1679237 PMID:1683921 PMID:1975675 PMID:1978757 PMID:1999338 PMID:2046748 PMID:2259385 PMID:2531845 PMID:2554494 PMID:2654466 PMID:2750177 PMID:3784963 PMID:4122735 PMID:6736287 PMID:7565304 PMID:7651740 PMID:7707106 PMID:7732013 PMID:7737263 PMID:7783166 PMID:7791795 PMID:7885831 PMID:7887414 PMID:8023157 PMID:8062826 PMID:8080050 PMID:8099841 PMID:8118819 PMID:8164043 PMID:8242752 PMID:8276238 PMID:8336941 PMID:8401536 PMID:8402598 PMID:8423216 PMID:8425176 PMID:8479749 PMID:8527048 PMID:8550239 PMID:8633021 PMID:8718514 PMID:8825920 PMID:8829627 PMID:8869100 PMID:9020384 PMID:9047394 PMID:9049183 PMID:9150393 PMID:9157982 PMID:9218725 PMID:9242456 PMID:9268986 PMID:9290701 PMID:9364015 PMID:9399838 PMID:9407971 PMID:9446663 PMID:9525742 PMID:9536098 PMID:9546439 PMID:9569050 PMID:9572492 PMID:9598730 PMID:9607760 PMID:9632751 PMID:9662334 PMID:9667734 PMID:9681828 PMID:9704930 PMID:9825943 PMID:9839505 PMID:9891044 PMID:10064694 PMID:10089074 PMID:10229196 PMID:10411893 PMID:10432928 PMID:10519380 PMID:10567903 PMID:10589545 PMID:10616528 PMID:10713666 PMID:10761705 PMID:10797439 PMID:10802655 PMID:10864200 PMID:10871862 PMID:10922393 PMID:10949938 PMID:11051239 PMID:11101847 PMID:11139324 PMID:11152481 PMID:11180592 PMID:11370630 PMID:11403041 PMID:11420676 PMID:11429705 PMID:11479205 PMID:11590071 PMID:11593407 PMID:11668501 PMID:11782540 PMID:11793474 PMID:11896595 PMID:11920788 PMID:11920959 PMID:12007217 PMID:12034820 PMID:12406399 PMID:12506399 PMID:12509279 PMID:12567188 PMID:12619118 PMID:12672316 PMID:12695689 PMID:12700230 PMID:12726864 PMID:12826609 PMID:12885464 PMID:12909720 PMID:12917626 PMID:14584079 PMID:14673037 PMID:14743206 PMID:15004724 PMID:15017592 PMID:15037740 PMID:15077194 PMID:15355915 PMID:15381368 PMID:15390294 PMID:15541116 PMID:15607980 PMID:15607981 PMID:15722483 PMID:15781620 PMID:15825182 PMID:15850016 PMID:15925506 PMID:15951970 PMID:15958617 PMID:15977174 PMID:15982667 PMID:16199549 PMID:16206219 PMID:16209708 PMID:16258005 PMID:16312222 PMID:16322298 PMID:16337994 PMID:16401470 PMID:16489069 PMID:16492679 PMID:16494995 PMID:16508005 PMID:16551709 PMID:16633321 PMID:16682957 PMID:16736287 PMID:16778209 PMID:16818505 PMID:16827139 PMID:16861262 PMID:16964264 PMID:16969106 PMID:17015838 PMID:17170001 PMID:17308077 PMID:17311302 PMID:17390010 PMID:17401428 PMID:17417627 PMID:17427234 PMID:17530187 PMID:17535973 PMID:17540308 PMID:17541742 PMID:17567834 PMID:17572079 PMID:17576681 PMID:17599946 PMID:17606709 PMID:17636407 PMID:17638920 PMID:17724467 PMID:17875924 PMID:17881637 PMID:18208484 PMID:18307025 PMID:18391940 PMID:18453682 PMID:18511570 PMID:18555592 PMID:18628487 PMID:18685109 PMID:18818522 PMID:18937320 PMID:18989156 PMID:19012332 PMID:19101993 PMID:19127115 PMID:19147582 PMID:19171880 PMID:19336573 PMID:19367569 PMID:19378321 PMID:19405127 PMID:19454241 PMID:19462533 PMID:19468865 PMID:19521721 PMID:19556618 PMID:19681600 PMID:19711436 PMID:19714490 PMID:19850740 PMID:19881536 PMID:19913028 PMID:19930417 PMID:20013323 PMID:20028212 PMID:20113312 PMID:20127978 PMID:20128691 PMID:20234365 PMID:20364130 PMID:20407015 PMID:20436704 PMID:20505364 PMID:20506564 PMID:20516128 PMID:20520810 PMID:20522432 PMID:20589832 PMID:20593220 PMID:20689556 PMID:20693561 PMID:20805372 PMID:20878954 PMID:20972454 PMID:21059199 PMID:21113594 PMID:21115975 PMID:21118481 PMID:21159183 PMID:21187651 PMID:21232794 PMID:21305319 PMID:21343334 PMID:21348412 PMID:21356188 PMID:21445056 PMID:21484931 PMID:21514416 PMID:21519010 PMID:21535297 PMID:21552135 PMID:21590121 PMID:21601526 PMID:21619694 PMID:21626334 PMID:21665182 PMID:21672450 PMID:21674059 PMID:21747090 PMID:21761402 PMID:22006311 PMID:22052707 PMID:22110706 PMID:22114072 PMID:22170717 PMID:22186996 PMID:22198284 PMID:22233476 PMID:22265402 PMID:22319594 PMID:22427690 PMID:22484423 PMID:22553421 PMID:22672556 PMID:22698404 PMID:22703879 PMID:22710932 PMID:22713868 PMID:22729912 PMID:22744426 PMID:22768918 PMID:22811390 PMID:22822097 PMID:22869713 PMID:22887876 PMID:22899716 PMID:22915647 PMID:22919068 PMID:22923379 PMID:22955915 PMID:22983585 PMID:23031740 PMID:23161690 PMID:23172776 PMID:23246812 PMID:23259501 PMID:23263379 PMID:23265383 PMID:23406775 PMID:23484829 PMID:23538418 PMID:23612969 PMID:23624782 PMID:23630318 PMID:23667202 PMID:23713777 PMID:23792586 PMID:23887774 PMID:23894400 PMID:23950206 PMID:24033266 PMID:24038938 PMID:24065105 PMID:24122735 PMID:24307375 PMID:24381225 PMID:24382691 PMID:24384472 PMID:24487413 PMID:24501221 PMID:24549055 PMID:24573247 PMID:24590827 PMID:24603336 PMID:24641375 PMID:24651012 PMID:24651015 PMID:24677579 PMID:24702488 PMID:24728327 PMID:24810334 PMID:24835218 PMID:24857548 PMID:25059482 PMID:25119136 PMID:25157968 PMID:25186627 PMID:25256166 PMID:25293557 PMID:25294809 PMID:25339994 PMID:25404506 PMID:25433984 PMID:25503501 PMID:25504633 PMID:25516983 PMID:25525159 PMID:25584008 PMID:25584637 PMID:25612911 PMID:25619955 PMID:25634208 PMID:25669829 PMID:25691460 PMID:25741868 PMID:25787918 PMID:25896519 PMID:25925845 PMID:25927356 PMID:25945745 PMID:25952993 PMID:25980754 PMID:26014290 PMID:26022348 PMID:26024390 PMID:26205489 PMID:26225655 PMID:26230955 PMID:26270727 PMID:26271412 PMID:26332594 PMID:26425688 PMID:26467025 PMID:26497680 PMID:26534844 PMID:26556299 PMID:26585234 PMID:26619011 PMID:26628864 PMID:26681312 PMID:26718964 PMID:26781615 PMID:26786923 PMID:26787237 PMID:26818906 PMID:26822237 PMID:26845104 PMID:26878390 PMID:26911350 PMID:26976419 PMID:27022024 PMID:27077130 PMID:27153395 PMID:27179933 PMID:27189670 PMID:27276561 PMID:27276934 PMID:27374712 PMID:27463065 PMID:27493922 PMID:27501770 PMID:27516001 PMID:27523101 PMID:27533082 PMID:27616075 PMID:27621308 PMID:27680515 PMID:27683180 PMID:27714481 PMID:27724982 PMID:27895058 PMID:27959731 PMID:27993330 PMID:28135145 PMID:28152038 PMID:28160093 PMID:28279309 PMID:28349240 PMID:28369373 PMID:28453743 PMID:28472496 PMID:28477316 PMID:28492532 PMID:28724667 PMID:28802053 PMID:28861920 PMID:28873162 PMID:28975465 PMID:29025599 PMID:29058119 PMID:29070607 PMID:29076966 PMID:29126202 PMID:29300620 PMID:29324801 PMID:29470806 PMID:29478780 PMID:29489754 PMID:29581140 PMID:29752822 PMID:29753700 PMID:29958926 PMID:29979965 PMID:30076369 PMID:30099178 PMID:30107858 PMID:30128536 PMID:30216591 PMID:30224644 PMID:30287823 PMID:30299350 PMID:30306255 PMID:30311369 PMID:30322717 PMID:30327374 PMID:30352134 PMID:30450585 PMID:30546832 PMID:30583724 PMID:30630526 PMID:30675318 PMID:30709381 PMID:30709875 PMID:30720243 PMID:30730202 PMID:30816478 PMID:30840781 PMID:30918304 PMID:31016814 PMID:31105275 PMID:31119730 PMID:31127191 PMID:31168460 PMID:31206626 PMID:31296311 PMID:31494577 PMID:31742824 PMID:31748977 PMID:31775759 PMID:31882575 PMID:32000721 PMID:32019277 PMID:32126783 PMID:32156018 PMID:32164171 PMID:32179180 PMID:32187361 PMID:32295079 PMID:32318955 PMID:32475984 PMID:32658383 PMID:32817165 PMID:32888145 PMID:32906206 PMID:32980694 PMID:33087929 PMID:33138793 PMID:33163847 PMID:33208383 PMID:33245408 PMID:33257846 PMID:33300245 PMID:33332384 PMID:33372952 PMID:33407742 PMID:33471991 PMID:33633026 PMID:33818021 PMID:33840814 PMID:34026625 PMID:34240179 PMID:34299313 PMID:34308366 PMID:34529667 PMID:34675114 PMID:34709361 PMID:34793666 PMID:34994652 PMID:35033608 PMID:35127508 PMID:35264596 PMID:35820297 PMID:35938033 PMID:35974385 PMID:36219266 PMID:36329109 PMID:36988593 More...
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NCBI chr17:7,668,421...7,687,490
Ensembl chr17:7,661,779...7,687,538
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G |
TP53BP1 |
tumor protein p53 binding protein 1 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30705370 |
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NCBI chr15:43,403,061...43,510,640
Ensembl chr15:43,403,061...43,510,728
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G |
TRMT11 |
tRNA methyltransferase 11 homolog |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30705370 |
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NCBI chr 6:125,986,540...126,272,343
Ensembl chr 6:125,986,479...126,203,817
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G |
VEGFA |
vascular endothelial growth factor A |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16356833 |
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NCBI chr 6:43,770,211...43,786,487
Ensembl chr 6:43,770,184...43,786,487
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G |
WT1 |
WT1 transcription factor |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20820871 |
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NCBI chr11:32,387,775...32,435,539
Ensembl chr11:32,387,775...32,435,564
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G |
XRCC1 |
X-ray repair cross complementing 1 |
susceptibility |
IAGP |
DNA:SNP:exon 10: p.R399Q (human) |
RGD |
PMID:18330515 |
RGD:401827274 |
NCBI chr19:43,543,311...43,575,527
Ensembl chr19:43,543,311...43,580,473
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G |
ZBTB7A |
zinc finger and BTB domain containing 7A |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25875864 |
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NCBI chr19:4,043,303...4,066,899
Ensembl chr19:4,043,303...4,066,899
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G |
RB1 |
RB transcriptional corepressor 1 |
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IEP |
RNA:decreased expression:brain: |
RGD |
PMID:22157621 |
RGD:13782062 |
NCBI chr13:48,303,751...48,481,890
Ensembl chr13:48,303,744...48,599,436
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G |
CCL2 |
C-C motif chemokine ligand 2 |
severity |
ISO |
mouse gene in a rat model |
RGD |
PMID:7489565 |
RGD:11526112 |
NCBI chr17:34,255,285...34,257,203
Ensembl chr17:34,255,274...34,257,208
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G |
CYP2B6 |
cytochrome P450 family 2 subfamily B member 6 |
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EXP |
CTD Direct Evidence: therapeutic |
CTD |
PMID:9766669 PMID:11389073 |
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NCBI chr19:40,991,282...41,018,398
Ensembl chr19:40,991,282...41,018,398
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G |
CYP2C18 |
cytochrome P450 family 2 subfamily C member 18 |
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EXP |
CTD Direct Evidence: therapeutic |
CTD |
PMID:9766669 |
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NCBI chr10:94,683,729...94,736,190
Ensembl chr10:94,683,729...94,736,190
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G |
PLAU |
plasminogen activator, urokinase |
severity |
ISO |
mouse gene in rat model |
RGD |
PMID:20606645 |
RGD:7241591 |
NCBI chr10:73,909,164...73,917,494
Ensembl chr10:73,909,177...73,917,496
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G |
POR |
cytochrome p450 oxidoreductase |
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EXP |
CTD Direct Evidence: therapeutic |
CTD |
PMID:9766669 |
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NCBI chr 7:75,915,155...75,986,855
Ensembl chr 7:75,899,200...75,986,855
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G |
PTGS1 |
prostaglandin-endoperoxide synthase 1 |
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ISO |
protein:increased expression:microglia, macrophage, |
RGD |
PMID:10229132 |
RGD:5688250 |
NCBI chr 9:122,370,533...122,395,703
Ensembl chr 9:122,370,530...122,395,703
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G |
PTGS2 |
prostaglandin-endoperoxide synthase 2 |
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ISO |
protein:increased expression:endothelial cell |
RGD |
PMID:10229132 |
RGD:5688250 |
NCBI chr 1:186,671,791...186,680,423
Ensembl chr 1:186,671,791...186,680,922
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G |
VEGFA |
vascular endothelial growth factor A |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16533777 |
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NCBI chr 6:43,770,211...43,786,487
Ensembl chr 6:43,770,184...43,786,487
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G |
RUNX1 |
RUNX family transcription factor 1 |
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IAGP |
ClinVar Annotator: match by term: Malignant ependymoma |
ClinVar |
PMID:23753029 PMID:25741868 PMID:26580448 PMID:28492532 PMID:28801348 PMID:29365323 More...
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NCBI chr21:34,787,801...35,049,302
Ensembl chr21:34,787,801...36,004,667
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G |
POT1 |
protection of telomeres 1 |
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IAGP |
ClinVar Annotator: match by term: High-grade astrocytoma with piloid features |
ClinVar |
PMID:25741868 |
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NCBI chr 7:124,822,386...124,929,825
Ensembl chr 7:124,822,386...124,929,983
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G |
PHOX2B |
paired like homeobox 2B |
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IAGP |
ClinVar Annotator: match by term: Hirschsprung disease ganglioneuroblastoma |
ClinVar |
PMID:11953745 PMID:12438263 PMID:15024693 PMID:15338462 PMID:17637745 PMID:20089899 PMID:23754957 PMID:23873030 More...
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NCBI chr 4:41,744,082...41,748,725
Ensembl chr 4:41,744,082...41,748,725
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G |
ATM |
ATM serine/threonine kinase |
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IAGP |
ClinVar Annotator: match by term: Astrocytoma IDH-mutant |
ClinVar |
PMID:19781682 PMID:25503501 PMID:25741868 PMID:28492532 PMID:28779002 |
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NCBI chr11:108,223,067...108,369,102
Ensembl chr11:108,222,823...108,369,102
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G |
C11orf65 |
chromosome 11 open reading frame 65 |
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IAGP |
ClinVar Annotator: match by term: Astrocytoma IDH-mutant |
ClinVar |
PMID:19781682 PMID:25503501 PMID:25741868 PMID:28492532 PMID:28779002 |
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NCBI chr11:108,308,519...108,469,881
Ensembl chr11:108,308,519...108,467,531
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G |
EPCAM |
epithelial cell adhesion molecule |
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IAGP |
ClinVar Annotator: match by term: Astrocytoma IDH-mutant |
ClinVar |
PMID:25741868 |
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NCBI chr 2:47,369,311...47,387,020
Ensembl chr 2:47,345,158...47,387,601
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G |
NF1 |
neurofibromin 1 |
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IAGP |
ClinVar Annotator: match by term: Astrocytoma IDH-mutant |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr17:31,094,927...31,377,677
Ensembl chr17:31,094,927...31,382,116
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G |
RAD54L |
RAD54 like |
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IAGP |
ClinVar Annotator: match by term: Astrocytoma IDH-mutant |
ClinVar |
PMID:25741868 |
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NCBI chr 1:46,247,688...46,278,473
Ensembl chr 1:46,246,461...46,278,480
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G |
BRCA1 |
BRCA1 DNA repair associated |
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IAGP |
ClinVar Annotator: match by term: Infant-type hemispheric glioma |
ClinVar |
PMID:9609997 PMID:19543972 PMID:21990134 PMID:21990165 PMID:24489791 PMID:25452441 PMID:25741868 PMID:25823446 PMID:26467025 PMID:27225819 PMID:27741520 PMID:28492532 PMID:28888541 PMID:29339979 PMID:29446198 PMID:29506128 PMID:29854283 PMID:29907814 PMID:30209399 PMID:30219179 PMID:30339520 PMID:32380732 PMID:32438681 PMID:34572941 More...
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NCBI chr17:43,044,295...43,170,327
Ensembl chr17:43,044,295...43,170,245
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G |
ACVR1 |
activin A receptor type 1 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24705250 |
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NCBI chr 2:157,736,446...157,876,330
Ensembl chr 2:157,736,251...157,876,330
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G |
ADGRB1 |
adhesion G protein-coupled receptor B1 |
severity |
IEP |
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RGD |
PMID:23761815 |
RGD:13831356 |
NCBI chr 8:142,449,649...142,545,007
Ensembl chr 8:142,449,430...142,545,009
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G |
AGAP2-AS1 |
AGAP2 antisense RNA 1 |
severity |
IEP |
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RGD |
PMID:27764782 |
RGD:11571728 |
NCBI chr12:57,726,240...57,728,356
Ensembl chr12:57,726,271...57,728,356
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G |
AKT1 |
AKT serine/threonine kinase 1 |
disease_progression |
IEP |
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RGD |
PMID:19240976 |
RGD:5509079 |
NCBI chr14:104,769,349...104,795,748
Ensembl chr14:104,769,349...104,795,751
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G |
AKT2 |
AKT serine/threonine kinase 2 |
severity |
IEP |
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RGD |
PMID:20167810 |
RGD:13674163 |
NCBI chr19:40,230,317...40,285,345
Ensembl chr19:40,230,317...40,285,536
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G |
AKT3 |
AKT serine/threonine kinase 3 |
severity |
IEP |
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RGD |
PMID:20167810 |
RGD:13674163 |
NCBI chr 1:243,488,233...243,851,079
Ensembl chr 1:243,488,233...243,851,079
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G |
ANXA1 |
annexin A1 |
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IEP |
associated with Tuberous Sclerosis;mRNA:increased expression:brain |
RGD |
PMID:20133820 |
RGD:7421564 |
NCBI chr 9:73,151,865...73,170,393
Ensembl chr 9:73,151,865...73,170,393
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G |
AR |
androgen receptor |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24680642 |
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NCBI chr X:67,544,021...67,730,619
Ensembl chr X:67,544,021...67,730,619
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G |
ATRX |
ATRX chromatin remodeler |
disease_progression severity |
IEP |
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RGD |
PMID:24810474 PMID:23765250 |
RGD:9586026, RGD:11040585 |
NCBI chr X:77,504,880...77,786,216
Ensembl chr X:77,504,880...77,786,233
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G |
BRAF |
B-Raf proto-oncogene, serine/threonine kinase |
onset |
IAGP EXP |
DNA:mutation:cds:p.V600E(human) CTD Direct Evidence: marker/mechanism DNA:rearrangement: : |
CTD RGD |
PMID:23817572 PMID:25346165 PMID:19794125 |
RGD:11567238, RGD:11069832 |
NCBI chr 7:140,713,328...140,924,929
Ensembl chr 7:140,719,327...140,924,929
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G |
BRD7 |
bromodomain containing 7 |
severity |
IEP |
protein:increased expression:brain: |
RGD |
PMID:24404152 |
RGD:9586441 |
NCBI chr16:50,315,957...50,368,988
Ensembl chr16:50,313,487...50,368,988
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G |
BST2 |
bone marrow stromal cell antigen 2 |
severity |
IEP |
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RGD |
PMID:21565182 |
RGD:14398497 |
NCBI chr19:17,402,939...17,405,630
Ensembl chr19:17,402,939...17,405,630
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G |
CADM2 |
cell adhesion molecule 2 |
severity |
IDA |
protein:decreased expression:brain |
RGD |
PMID:30816549 |
RGD:19165125 |
NCBI chr 3:84,958,989...86,074,429
Ensembl chr 3:84,958,989...86,074,429
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G |
CAMK2G |
calcium/calmodulin dependent protein kinase II gamma |
disease_progression |
IEP |
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RGD |
PMID:12937144 |
RGD:13702480 |
NCBI chr10:73,812,501...73,874,555
Ensembl chr10:73,812,501...73,874,591
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G |
CCND1 |
cyclin D1 |
severity |
IEP |
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RGD |
PMID:10419598 |
RGD:13681931 |
NCBI chr11:69,641,156...69,654,474
Ensembl chr11:69,641,156...69,654,474
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G |
DLL3 |
delta like canonical Notch ligand 3 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21127729 |
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NCBI chr19:39,498,947...39,508,469
Ensembl chr19:39,498,895...39,508,481
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G |
DOK2 |
docking protein 2 |
disease_progression |
IEP |
mRNA,protein:increased expression, increased phosphorylation:astrocytoma (human) |
RGD |
PMID:27975172 |
RGD:152177494 |
NCBI chr 8:21,908,873...21,913,690
Ensembl chr 8:21,908,873...21,913,690
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G |
ESR1 |
estrogen receptor 1 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24680642 |
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NCBI chr 6:151,656,672...152,129,619
Ensembl chr 6:151,656,691...152,129,619
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G |
ESR2 |
estrogen receptor 2 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24680642 |
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NCBI chr14:64,226,707...64,338,613
Ensembl chr14:64,084,232...64,338,112
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G |
FGFR1 |
fibroblast growth factor receptor 1 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23817572 |
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NCBI chr 8:38,411,143...38,468,635
Ensembl chr 8:38,400,215...38,468,834
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G |
FUBP1 |
far upstream element binding protein 1 |
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IEP |
mRNA:increased expression:brain (human) |
RGD |
PMID:32481602 |
RGD:151361197 |
NCBI chr 1:77,944,055...77,979,501
Ensembl chr 1:77,944,055...77,979,110
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G |
G3BP1 |
G3BP stress granule assembly factor 1 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27106762 |
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NCBI chr 5:151,771,954...151,812,785
Ensembl chr 5:151,771,045...151,812,911
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G |
GSTM1 |
glutathione S-transferase mu 1 |
severity |
IAGP |
DNA:deletion: : |
RGD |
PMID:12241105 |
RGD:5490125 |
NCBI chr 1:109,687,817...109,693,745
Ensembl chr 1:109,687,814...109,709,039
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G |
GSTP1 |
glutathione S-transferase pi 1 |
susceptibility |
IAGP |
DNA:polymorphism:exon:p.A114V (human) |
RGD |
PMID:12241105 |
RGD:5490125 |
NCBI chr11:67,583,812...67,586,653
Ensembl chr11:67,583,742...67,586,656
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G |
HEY1 |
hes related family bHLH transcription factor with YRPW motif 1 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21127729 |
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NCBI chr 8:79,764,010...79,767,767
Ensembl chr 8:79,762,371...79,767,857
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G |
HEY2 |
hes related family bHLH transcription factor with YRPW motif 2 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21127729 |
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NCBI chr 6:125,749,632...125,761,269
Ensembl chr 6:125,747,664...125,761,269
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G |
HGF |
hepatocyte growth factor |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11223164 |
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NCBI chr 7:81,699,010...81,770,047
Ensembl chr 7:81,699,010...81,770,438
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G |
HIF1A |
hypoxia inducible factor 1 subunit alpha |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15341671 |
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NCBI chr14:61,695,513...61,748,258
Ensembl chr14:61,695,513...61,748,259
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G |
IL16 |
interleukin 16 |
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IEP |
protein:increased expression:brain |
RGD |
PMID:17221335 |
RGD:5024941 |
NCBI chr15:81,182,712...81,314,058
Ensembl chr15:81,159,575...81,314,058
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G |
KIAA1549 |
KIAA1549 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23817572 |
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NCBI chr 7:138,831,381...138,981,389
Ensembl chr 7:138,831,381...138,981,389
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G |
KRAS |
KRAS proto-oncogene, GTPase |
susceptibility |
IAGP ISO EXP |
sporadic pilocytic astrocytoma, OMIM:137800 DNA:transversion:CDS:amino acid G13R DNA:mutation:cds:p.G12D(mouse) CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:23817572 PMID:16247081 PMID:24038521 |
RGD:1600476, RGD:13702858 |
NCBI chr12:25,205,246...25,250,929
Ensembl chr12:25,205,246...25,250,936
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G |
LATS1 |
large tumor suppressor kinase 1 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17049657 |
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NCBI chr 6:149,658,153...149,718,101
Ensembl chr 6:149,658,153...149,718,105
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G |
LATS2 |
large tumor suppressor kinase 2 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17049657 |
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NCBI chr13:20,973,036...21,061,586
Ensembl chr13:20,973,036...21,061,586
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G |
LINC01198 |
long intergenic non-protein coding RNA 1198 |
severity |
IEP |
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RGD |
PMID:27764782 |
RGD:11571728 |
NCBI chr13:46,455,203...46,466,776
Ensembl chr13:46,455,131...46,515,958
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G |
MAP2K3 |
mitogen-activated protein kinase kinase 3 |
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IEP |
protein:increased expression, increased phosphorylation:brain |
RGD |
PMID:17406030 |
RGD:1641940 |
NCBI chr17:21,284,711...21,315,240
Ensembl chr17:21,284,672...21,315,232
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G |
MET |
MET proto-oncogene, receptor tyrosine kinase |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11223164 |
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NCBI chr 7:116,672,196...116,798,377
Ensembl chr 7:116,672,196...116,798,377
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G |
MIR155HG |
MIR155 host gene |
severity |
IEP |
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RGD |
PMID:27764782 |
RGD:11571728 |
NCBI chr21:25,562,145...25,575,168
Ensembl chr21:25,561,810...25,575,168
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G |
MMP3 |
matrix metallopeptidase 3 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20188714 |
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NCBI chr11:102,835,801...102,843,609
Ensembl chr11:102,835,801...102,843,609
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G |
MMP9 |
matrix metallopeptidase 9 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20188714 |
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NCBI chr20:46,008,908...46,016,561
Ensembl chr20:46,008,908...46,016,561
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G |
MRE11 |
MRE11 homolog, double strand break repair nuclease |
severity |
IEP |
mRNA:decreased expression:brain tumor (human) |
RGD |
PMID:17034947 |
RGD:2317736 |
NCBI chr11:94,415,570...94,512,412
Ensembl chr11:94,415,570...94,493,885
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G |
NCOA3 |
nuclear receptor coactivator 3 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24680642 |
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NCBI chr20:47,501,887...47,656,872
Ensembl chr20:47,501,887...47,656,877
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G |
NDRG1 |
N-myc downstream regulated 1 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15341671 |
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NCBI chr 8:133,237,175...133,297,252
Ensembl chr 8:133,237,175...133,302,022
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G |
NEDD8 |
NEDD8 ubiquitin like modifier |
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IEP |
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RGD |
PMID:12533840 |
RGD:1549458 |
NCBI chr14:24,216,857...24,232,367
Ensembl chr14:24,216,857...24,232,367
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G |
NF1 |
neurofibromin 1 |
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ISO EXP IEP |
CTD Direct Evidence: marker/mechanism protein:decreased expression:brain: |
CTD RGD |
PMID:20176786 PMID:23817572 PMID:10973261 PMID:10931370 |
RGD:1302542, RGD:12743656 |
NCBI chr17:31,094,927...31,377,677
Ensembl chr17:31,094,927...31,382,116
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G |
NOTCH1 |
notch receptor 1 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21127729 |
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NCBI chr 9:136,494,433...136,546,048
Ensembl chr 9:136,494,433...136,546,048
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G |
NOTCH2 |
notch receptor 2 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21127729 |
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NCBI chr 1:119,911,553...120,069,662
Ensembl chr 1:119,911,553...120,100,779
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G |
NTRK2 |
neurotrophic receptor tyrosine kinase 2 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23817572 |
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NCBI chr 9:84,668,522...85,027,054
Ensembl chr 9:84,668,375...85,095,751
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G |
PCMT1 |
protein-L-isoaspartate (D-aspartate) O-methyltransferase |
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IEP |
protein:decreased expression,decreased activity:brain: |
RGD |
PMID:15857672 |
RGD:10448283 |
NCBI chr 6:149,749,695...149,811,421
Ensembl chr 6:149,749,444...149,811,420
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G |
PTPN11 |
protein tyrosine phosphatase non-receptor type 11 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23817572 |
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NCBI chr12:112,418,947...112,509,918
Ensembl chr12:112,418,351...112,509,918
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G |
SLC7A5 |
solute carrier family 7 member 5 |
disease_progression |
IEP |
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RGD |
PMID:16496379 |
RGD:151361115 |
NCBI chr16:87,830,023...87,869,507
Ensembl chr16:87,830,023...87,869,507
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G |
TIAL1 |
TIA1 cytotoxic granule associated RNA binding protein like 1 |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27106762 |
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NCBI chr10:119,573,465...119,596,964
Ensembl chr10:119,571,802...119,597,029
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G |
TP53 |
tumor protein p53 |
susceptibility |
ISO IAGP |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Malignant astrocytoma DNA:nonsense mutation:cds: |
CTD ClinVar RGD |
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:20176786 PMID:20407015 PMID:20522432 PMID:21059199 PMID:21305319 PMID:21343334 PMID:21519010 PMID:21761402 PMID:22186996 PMID:22672556 PMID:22915647 PMID:23161690 PMID:23246812 PMID:23538418 PMID:24033266 PMID:24122735 PMID:24573247 PMID:24835218 PMID:24857548 PMID:25157968 PMID:25186627 PMID:25584008 PMID:25619955 PMID:25741868 PMID:25952993 PMID:26014290 PMID:26205489 PMID:26225655 PMID:26230955 PMID:26585234 PMID:26619011 PMID:26786923 PMID:26845104 PMID:26878390 PMID:26911350 PMID:27077130 PMID:27276561 PMID:27463065 PMID:27621308 PMID:27680515 PMID:27895058 PMID:27959731 PMID:28369373 PMID:28472496 PMID:28492532 PMID:28975465 PMID:29581140 PMID:29979965 PMID:30224644 PMID:30327374 PMID:30709381 PMID:30816478 PMID:32000721 PMID:32156018 PMID:32475984 PMID:32817165 PMID:32888145 PMID:33163847 PMID:33245408 PMID:33407742 PMID:33840814 PMID:34529667 PMID:34709361 PMID:35974385 PMID:36988593 PMID:24038521 More...
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RGD:13702858 |
NCBI chr17:7,668,421...7,687,490
Ensembl chr17:7,661,779...7,687,538
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G |
TPT1-AS1 |
TPT1 antisense RNA 1 |
severity |
IEP |
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RGD |
PMID:27764782 |
RGD:11571728 |
NCBI chr13:45,341,345...45,391,483
Ensembl chr13:45,341,345...45,417,975
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G |
ANK3 |
ankyrin 3 |
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IAGP |
ClinVar Annotator: match by term: Classic medulloblastoma |
ClinVar |
|
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NCBI chr10:60,026,298...60,733,528
Ensembl chr10:60,026,298...60,733,490
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G |
APC |
APC regulator of WNT signaling pathway |
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IAGP EXP |
associated with Adenomatous Polyposis Coli;DNA:mutations: : CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:7661930 PMID:17238184 |
RGD:6484523 |
NCBI chr 5:112,707,498...112,846,239
Ensembl chr 5:112,707,518...112,846,239
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G |
ARID1A |
AT-rich interaction domain 1A |
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IAGP |
ClinVar Annotator: match by term: Medulloblastoma |
ClinVar |
PMID:26822237 |
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NCBI chr 1:26,696,015...26,782,104
Ensembl chr 1:26,693,236...26,782,104
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G |
ARID1B |
AT-rich interaction domain 1B |
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IAGP |
ClinVar Annotator: match by term: Medulloblastoma |
ClinVar |
PMID:25741868 PMID:26822237 |
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NCBI chr 6:156,776,026...157,210,779
Ensembl chr 6:156,776,020...157,210,779
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G |
ATOH1 |
atonal bHLH transcription factor 1 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18347096 |
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NCBI chr 4:93,828,753...93,830,964
Ensembl chr 4:93,828,753...93,830,964
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G |
BAP1 |
BRCA1 associated protein 1 |
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IAGP |
ClinVar Annotator: match by term: Medulloblastoma |
ClinVar |
PMID:24970262 PMID:25741868 PMID:26719535 PMID:28492532 PMID:29641532 PMID:32068069 More...
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NCBI chr 3:52,401,008...52,410,008
Ensembl chr 3:52,401,008...52,410,008
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G |
BRCA2 |
BRCA2 DNA repair associated |
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ISO IAGP EXP |
ClinVar Annotator: match by term: MEDULLOBLASTOMA PREDISPOSITION SYNDROME ClinVar Annotator: match by term: Medulloblastoma CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD RGD |
PMID:251866 PMID:278235 PMID:2200631 PMID:8589730 PMID:8673090 PMID:9150172 PMID:9150174 PMID:9667259 PMID:9792861 PMID:10644434 PMID:10660329 PMID:10790213 PMID:10978364 PMID:11149425 PMID:11179017 PMID:11307153 PMID:11389159 PMID:11400546 PMID:11597388 PMID:11802209 PMID:11843247 PMID:11857748 PMID:12065746 PMID:12373604 PMID:12655567 PMID:12845657 PMID:12955716 PMID:14559878 PMID:14647210 PMID:14670928 PMID:15024741 PMID:15070707 PMID:15131399 PMID:15168169 PMID:15340362 PMID:15382066 PMID:15689453 PMID:15800311 PMID:16030099 PMID:16168118 PMID:16168123 PMID:16199547 PMID:16284991 PMID:16389418 PMID:16455195 PMID:16683254 PMID:16758124 PMID:16825431 PMID:16905680 PMID:16912212 PMID:16920162 PMID:17063270 PMID:17148771 PMID:17301269 PMID:17513806 PMID:17574839 PMID:17688236 PMID:17925560 PMID:17972171 PMID:18042939 PMID:18393245 PMID:18446624 PMID:18465347 PMID:18489799 PMID:18703817 PMID:18704680 PMID:19016756 PMID:19241424 PMID:19491284 PMID:19620486 PMID:19654294 PMID:19656164 PMID:19863560 PMID:19941162 PMID:19941167 PMID:19949876 PMID:19967274 PMID:20033483 PMID:20104584 PMID:20167696 PMID:20373018 PMID:20616022 PMID:20694749 PMID:20736950 PMID:20858050 PMID:21120943 PMID:21205087 PMID:21324516 PMID:21520273 PMID:21643751 PMID:21702907 PMID:21709188 PMID:21913181 PMID:21918853 PMID:21952622 PMID:22006311 PMID:22009639 PMID:22085629 PMID:22144684 PMID:22217648 PMID:22426013 PMID:22505045 PMID:22535016 PMID:22632462 PMID:22666503 PMID:22752604 PMID:22762150 PMID:22798144 PMID:22923021 PMID:23096105 PMID:23199084 PMID:23233716 PMID:23318356 PMID:23415752 PMID:23469205 PMID:23479189 PMID:23569316 PMID:23613520 PMID:23621881 PMID:23725378 PMID:23767878 PMID:23942203 PMID:24033266 PMID:24055113 PMID:24123850 PMID:24141157 PMID:24156927 PMID:24301060 PMID:24312913 PMID:24504028 PMID:24528374 PMID:24556621 PMID:24607278 PMID:24728189 PMID:24814045 PMID:24830819 PMID:24884479 PMID:24916970 PMID:25066507 PMID:25085752 PMID:25136594 PMID:25186627 PMID:25236687 PMID:25330149 PMID:25348012 PMID:25382762 PMID:25428789 PMID:25452441 PMID:25525159 PMID:25637381 PMID:25682074 PMID:25737278 PMID:25741868 PMID:25802882 PMID:25863477 PMID:25884701 PMID:25927356 PMID:26026974 PMID:26064523 PMID:26187060 PMID:26219728 PMID:26287763 PMID:26295337 PMID:26360800 PMID:26425718 PMID:26439132 PMID:26467025 PMID:26541979 PMID:26580448 PMID:26657402 PMID:26681312 PMID:26687385 PMID:26689913 PMID:26786923 PMID:26834852 PMID:26845104 PMID:27153395 PMID:27165126 PMID:27257965 PMID:27376475 PMID:27425403 PMID:27433846 PMID:27469594 PMID:27553368 PMID:27732944 PMID:27741520 PMID:27767231 PMID:27831900 PMID:27836010 PMID:28008555 PMID:28039656 PMID:28111427 PMID:28176296 PMID:28243543 PMID:28281021 PMID:28294317 PMID:28324225 PMID:28423363 PMID:28477318 PMID:28492532 PMID:28503720 PMID:28541631 PMID:28616458 PMID:28657667 PMID:28715532 PMID:28724667 PMID:28726808 PMID:28831036 PMID:28915716 PMID:28918466 PMID:28973083 PMID:28993434 PMID:29061375 PMID:29084914 PMID:29088781 PMID:29161300 PMID:29176636 PMID:29321669 PMID:29339979 PMID:29348823 PMID:29360161 PMID:29371908 PMID:29446198 PMID:29478780 PMID:29483665 PMID:29489754 PMID:29492181 PMID:29506128 PMID:29625052 PMID:29752822 PMID:29753700 PMID:29790872 PMID:29907814 PMID:29909963 PMID:29915322 PMID:30078507 PMID:30093976 PMID:30122538 PMID:30128899 PMID:30199306 PMID:30274973 PMID:30287823 PMID:30309722 PMID:30322717 PMID:30350268 PMID:30548481 PMID:30606148 PMID:30612635 PMID:30630528 PMID:30696104 PMID:30702160 PMID:30720243 PMID:30720863 PMID:30787465 PMID:30875412 PMID:30972954 PMID:31112363 PMID:31131967 PMID:31174498 PMID:31209999 PMID:31214711 PMID:31263054 PMID:31263571 PMID:31331294 PMID:31360904 PMID:31396961 PMID:31411802 PMID:31447099 PMID:31451522 PMID:31589614 PMID:31721781 PMID:31742824 PMID:31825140 PMID:31837001 PMID:31911673 PMID:31948886 PMID:31957001 PMID:31980526 PMID:32029870 PMID:32098980 PMID:32101877 PMID:32164353 PMID:32190957 PMID:32295079 PMID:32300229 PMID:32318955 PMID:32338768 PMID:32341426 PMID:32354836 PMID:32426482 PMID:32438681 PMID:32467295 PMID:32521533 PMID:32581362 PMID:32710294 PMID:32719484 PMID:32720237 PMID:32772980 PMID:32846166 PMID:32853339 PMID:32875559 PMID:32885271 PMID:33008098 PMID:33087929 PMID:33113089 PMID:33309985 PMID:33372952 PMID:33461583 PMID:33471991 PMID:33478551 PMID:33608381 PMID:33773534 PMID:33918338 PMID:34008015 PMID:34196900 PMID:34399810 PMID:34413315 PMID:34567246 PMID:34657373 PMID:35220195 PMID:35264596 PMID:35353237 PMID:35535697 PMID:35753294 PMID:36329109 PMID:36988593 PMID:17476307 More...
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RGD:11038793 |
NCBI chr13:32,315,508...32,400,268
Ensembl chr13:32,315,086...32,400,268
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G |
BRD2 |
bromodomain containing 2 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24231268 |
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NCBI chr 6:32,968,594...32,981,505
Ensembl chr 6:32,968,594...32,981,505
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G |
BRD3 |
bromodomain containing 3 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24231268 |
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NCBI chr 9:134,030,305...134,068,548
Ensembl chr 9:134,030,305...134,068,535
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G |
BRD4 |
bromodomain containing 4 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24231268 PMID:31594641 |
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NCBI chr19:15,235,519...15,332,539
Ensembl chr19:15,235,519...15,332,545
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G |
CCND1 |
cyclin D1 |
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ISO |
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RGD |
PMID:16943274 |
RGD:13681932 |
NCBI chr11:69,641,156...69,654,474
Ensembl chr11:69,641,156...69,654,474
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G |
CCNE1 |
cyclin E1 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19270706 |
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NCBI chr19:29,811,991...29,824,312
Ensembl chr19:29,811,991...29,824,312
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G |
CDK6 |
cyclin dependent kinase 6 |
disease_progression |
EXP IEP |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:19270706 PMID:23138228 PMID:16314645 |
RGD:13702096 |
NCBI chr 7:92,604,921...92,836,573
Ensembl chr 7:92,604,921...92,836,573
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G |
CDK9 |
cyclin dependent kinase 9 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:31594641 |
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NCBI chr 9:127,786,034...127,790,792
Ensembl chr 9:127,785,679...127,790,792
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G |
CREBBP |
CREB binding protein |
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IAGP |
ClinVar Annotator: match by term: Medulloblastoma ClinVar Annotator: match by term: Medulloblastoma, somatic |
ClinVar |
PMID:21390126 PMID:21680795 PMID:21796119 PMID:22832583 PMID:23334668 PMID:23685749 PMID:23778141 PMID:26087898 PMID:26619011 PMID:27257180 PMID:28492532 PMID:28970362 PMID:29551561 PMID:33560380 More...
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NCBI chr16:3,725,054...3,880,713
Ensembl chr16:3,725,054...3,880,713
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G |
CTNNB1 |
catenin beta 1 |
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IAGP EXP |
ClinVar Annotator: match by term: Medulloblastoma ClinVar Annotator: match by term: MEDULLOBLASTOMA PREDISPOSITION SYNDROME CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Medulloblastoma, somatic |
ClinVar CTD OMIM |
PMID:9065402 PMID:9065403 PMID:9294210 PMID:9927029 PMID:10027390 PMID:10192393 PMID:10391090 PMID:10666372 PMID:11351304 PMID:11930117 PMID:11950921 PMID:12124804 PMID:15133491 PMID:19234609 PMID:23033978 PMID:23265383 PMID:24614104 PMID:25157968 PMID:25326635 PMID:25326669 PMID:25741868 PMID:26350204 PMID:26619011 PMID:26822237 PMID:27915094 PMID:27959697 PMID:28333917 PMID:28492532 PMID:28575650 PMID:31526516 More...
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NCBI chr 3:41,199,505...41,240,443
Ensembl chr 3:41,194,741...41,260,096
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G |
DDX3X |
DEAD-box helicase 3 X-linked |
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IAGP EXP |
ClinVar Annotator: match by term: Medulloblastoma CTD Direct Evidence: marker/mechanism |
ClinVar CTD |
PMID:26822237 PMID:27058758 |
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NCBI chr X:41,333,308...41,364,472
Ensembl chr X:41,333,348...41,364,472
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G |
DICER1 |
dicer 1, ribonuclease III |
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IAGP |
ClinVar Annotator: match by term: Medulloblastoma |
ClinVar |
PMID:25741868 |
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NCBI chr14:95,086,228...95,158,010
Ensembl chr14:95,086,228...95,158,010
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G |
DNMT1 |
DNA methyltransferase 1 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19155313 |
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NCBI chr19:10,133,346...10,194,953
Ensembl chr19:10,133,342...10,231,286
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G |
EHMT1 |
euchromatic histone lysine methyltransferase 1 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19270706 |
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NCBI chr 9:137,619,005...137,836,127
Ensembl chr 9:137,618,992...137,870,016
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G |
ELP1 |
elongator acetyltransferase complex subunit 1 |
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IAGP EXP |
ClinVar Annotator: match by term: Medulloblastoma CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:9536098 PMID:11179008 PMID:11179021 PMID:12116234 PMID:16199547 PMID:16964593 PMID:17206408 PMID:17576681 PMID:18303054 PMID:20301359 PMID:22190446 PMID:22850346 PMID:22975760 PMID:23515154 PMID:24033266 PMID:24173031 PMID:25741868 PMID:26392352 PMID:27065010 PMID:28492532 PMID:29289840 PMID:29762696 PMID:32296180 More...
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NCBI chr 9:108,867,517...108,934,124
Ensembl chr 9:108,866,898...108,934,328
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G |
EP300 |
E1A binding protein p300 |
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IAGP |
ClinVar Annotator: match by term: Medulloblastoma |
ClinVar |
PMID:26619011 |
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NCBI chr22:41,092,592...41,180,077
Ensembl chr22:41,092,592...41,180,077
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G |
ERBB2 |
erb-b2 receptor tyrosine kinase 2 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20168248 |
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NCBI chr17:39,688,094...39,728,658
Ensembl chr17:39,687,914...39,730,426
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G |
ESR2 |
estrogen receptor 2 |
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EXP |
CTD Direct Evidence: therapeutic |
CTD |
PMID:21351254 |
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NCBI chr14:64,226,707...64,338,613
Ensembl chr14:64,084,232...64,338,112
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G |
FBXW7 |
F-box and WD repeat domain containing 7 |
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IAGP |
ClinVar Annotator: match by term: Medulloblastoma, somatic |
ClinVar |
PMID:26619011 |
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NCBI chr 4:152,320,544...152,536,092
Ensembl chr 4:152,320,544...152,536,092
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G |
FGFR1 |
fibroblast growth factor receptor 1 |
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IAGP |
ClinVar Annotator: match by term: Medulloblastoma |
ClinVar |
PMID:10766980 PMID:23819449 PMID:25705862 PMID:25741868 PMID:26619011 PMID:26822237 PMID:26942290 PMID:27626068 PMID:33448156 More...
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NCBI chr 8:38,411,143...38,468,635
Ensembl chr 8:38,400,215...38,468,834
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G |
FLI1 |
Fli-1 proto-oncogene, ETS transcription factor |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19270706 |
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NCBI chr11:128,685,351...128,813,267
Ensembl chr11:128,686,535...128,813,267
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G |
FOXO3 |
forkhead box O3 |
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IAGP |
ClinVar Annotator: match by term: Medulloblastoma |
ClinVar |
PMID:26822237 |
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NCBI chr 6:108,559,825...108,684,774
Ensembl chr 6:108,559,835...108,684,774
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G |
GPR161 |
G protein-coupled receptor 161 |
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IAGP EXP |
ClinVar Annotator: match by term: Medulloblastoma CTD Direct Evidence: marker/mechanism |
ClinVar CTD OMIM |
PMID:31609649 |
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NCBI chr 1:168,079,542...168,137,667
Ensembl chr 1:168,079,542...168,137,667
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G |
GSTM1 |
glutathione S-transferase mu 1 |
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IAGP |
DNA:deletion: : |
RGD |
PMID:18952980 |
RGD:5490237 |
NCBI chr 1:109,687,817...109,693,745
Ensembl chr 1:109,687,814...109,709,039
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G |
GSTT1 |
glutathione S-transferase theta 1 |
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IAGP |
DNA:deletion: : |
RGD |
PMID:18952980 |
RGD:5490237 |
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G |
HIC1 |
HIC ZBTB transcriptional repressor 1 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18347096 |
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NCBI chr17:2,055,103...2,063,241
Ensembl chr17:2,054,154...2,063,241
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G |
IDH1 |
isocitrate dehydrogenase (NADP(+)) 1 |
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IAGP |
ClinVar Annotator: match by term: Medulloblastoma, somatic ClinVar Annotator: match by term: MEDULLOBLASTOMA PREDISPOSITION SYNDROME |
ClinVar |
PMID:18772396 PMID:19657110 PMID:19798509 PMID:19818334 PMID:20946881 PMID:21352804 PMID:21446021 PMID:22160010 PMID:22397365 PMID:22417203 PMID:22898539 PMID:23558169 PMID:24606448 PMID:25043048 PMID:25157968 PMID:25741868 PMID:26619011 PMID:27993330 PMID:30231226 PMID:36201590 More...
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NCBI chr 2:208,236,227...208,255,071
Ensembl chr 2:208,236,229...208,266,074
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G |
IRS2 |
insulin receptor substrate 2 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19270706 |
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NCBI chr13:109,752,695...109,786,583
Ensembl chr13:109,752,695...109,786,583
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G |
KAT6A |
lysine acetyltransferase 6A |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19270706 |
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NCBI chr 8:41,929,479...42,051,987
Ensembl chr 8:41,929,479...42,051,994
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G |
KDM4B |
lysine demethylase 4B |
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IEP EXP |
mRNA:increased expression:brain (human) CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:19270706 PMID:19270706 |
RGD:9587481 |
NCBI chr19:4,969,113...5,153,598
Ensembl chr19:4,969,113...5,153,598
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G |
KDM4C |
lysine demethylase 4C |
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IEP EXP |
mRNA:increased expression:brain (human) CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:19270706 PMID:19270706 |
RGD:9587481 |
NCBI chr 9:6,720,863...7,175,648
Ensembl chr 9:6,757,641...7,175,648
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G |
L3MBTL2 |
L3MBTL histone methyl-lysine binding protein 2 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19270706 |
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NCBI chr22:41,205,312...41,231,271
Ensembl chr22:41,205,282...41,231,271
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G |
L3MBTL3 |
L3MBTL histone methyl-lysine binding protein 3 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19270706 |
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NCBI chr 6:130,018,581...130,141,438
Ensembl chr 6:130,013,699...130,141,449
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G |
LOC100507346 |
uncharacterized LOC100507346 |
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IAGP |
ClinVar Annotator: match by term: Medulloblastoma |
ClinVar |
PMID:16301862 PMID:16419085 PMID:25741868 PMID:28492532 |
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NCBI chr 9:95,463,609...95,470,019
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G |
LOC126806658 |
BRD4-independent group 4 enhancer GRCh37_chr3:41265899-41267098 |
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IAGP |
ClinVar Annotator: match by term: MEDULLOBLASTOMA PREDISPOSITION SYNDROME ClinVar Annotator: match by term: Medulloblastoma |
ClinVar |
PMID:9065402 PMID:9065403 PMID:9294210 PMID:9927029 PMID:10027390 PMID:10192393 PMID:10391090 PMID:10666372 PMID:11351304 PMID:11930117 PMID:11950921 PMID:12124804 PMID:15133491 PMID:19234609 PMID:23033978 PMID:23265383 PMID:24614104 PMID:25157968 PMID:25326635 PMID:25326669 PMID:25741868 PMID:26350204 PMID:26619011 PMID:26822237 PMID:27959697 PMID:28492532 PMID:28575650 More...
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NCBI chr 3:41,224,408...41,225,607
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G |
LOC126806659 |
BRD4-independent group 4 enhancer GRCh37_chr3:41274918-41276117 |
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IAGP |
ClinVar Annotator: match by term: Medulloblastoma ClinVar Annotator: match by term: MEDULLOBLASTOMA PREDISPOSITION SYNDROME |
ClinVar |
PMID:23033978 PMID:24614104 PMID:25326669 PMID:25741868 PMID:26350204 PMID:27915094 PMID:28333917 PMID:28492532 PMID:28575650 PMID:31526516 More...
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NCBI chr 3:41,233,427...41,234,626
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G |
LOC130004614 |
ATAC-STARR-seq lymphoblastoid silent region 2764 |
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IAGP |
ClinVar Annotator: match by term: Medulloblastoma |
ClinVar |
PMID:12068298 PMID:19833601 PMID:22508808 PMID:24651015 PMID:25403219 PMID:25741868 PMID:26467025 PMID:28492532 PMID:28873162 PMID:29186568 PMID:29641532 PMID:29753700 PMID:33024317 PMID:34675124 PMID:35768194 PMID:36825822 More...
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NCBI chr10:102,503,788...102,504,257
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G |
MPL |
MPL proto-oncogene, thrombopoietin receptor |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19270706 |
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NCBI chr 1:43,337,818...43,354,466
Ensembl chr 1:43,337,818...43,354,466
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G |
MYC |
MYC proto-oncogene, bHLH transcription factor |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19270706 PMID:31694585 |
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NCBI chr 8:127,735,434...127,742,951
Ensembl chr 8:127,735,434...127,742,951
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G |
MYCL |
MYCL proto-oncogene, bHLH transcription factor |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19270706 |
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NCBI chr 1:39,895,428...39,901,917
Ensembl chr 1:39,895,428...39,902,256
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G |
MYCN |
MYCN proto-oncogene, bHLH transcription factor |
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IAGP EXP |
ClinVar Annotator: match by term: Medulloblastoma CTD Direct Evidence: marker/mechanism |
ClinVar CTD |
PMID:19270706 PMID:26619011 |
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NCBI chr 2:15,940,550...15,947,004
Ensembl chr 2:15,940,550...15,947,007
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G |
MYCNOS |
MYCN opposite strand |
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IAGP |
ClinVar Annotator: match by term: Medulloblastoma |
ClinVar |
PMID:26619011 |
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NCBI chr 2:15,936,265...15,942,433
Ensembl chr 2:15,918,350...15,942,249
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G |
NONO |
non-POU domain containing octamer binding |
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IAGP |
ClinVar Annotator: match by term: Medulloblastoma |
ClinVar |
PMID:25741868 PMID:26822237 |
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NCBI chr X:71,283,635...71,301,168
Ensembl chr X:71,254,814...71,301,522
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G |
NRAS |
NRAS proto-oncogene, GTPase |
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IAGP |
ClinVar Annotator: match by term: Medulloblastoma ClinVar Annotator: match by term: MEDULLOBLASTOMA PREDISPOSITION SYNDROME |
ClinVar |
PMID:2407301 PMID:2674680 PMID:2989702 PMID:3102434 PMID:8120410 PMID:16291983 PMID:17332249 PMID:17517660 PMID:18375819 PMID:18390968 PMID:18633438 PMID:19657110 PMID:19775298 PMID:20130576 PMID:20179705 PMID:21079152 PMID:22962325 PMID:23414587 PMID:23431193 PMID:25157968 PMID:25741868 PMID:26619011 PMID:27993330 More...
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NCBI chr 1:114,704,469...114,716,771
Ensembl chr 1:114,704,469...114,716,771
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G |
OTX2 |
orthodenticle homeobox 2 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19270706 |
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NCBI chr14:56,799,905...56,810,479
Ensembl chr14:56,799,905...56,816,693
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G |
PDGFRA |
platelet derived growth factor receptor alpha |
severity |
EXP IEP |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:19270706 PMID:25576913 |
RGD:13702904 |
NCBI chr 4:54,229,293...54,298,245
Ensembl chr 4:54,229,280...54,298,245
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G |
PIK3CA |
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha |
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IAGP |
ClinVar Annotator: match by term: Medulloblastoma, somatic ClinVar Annotator: match by term: MEDULLOBLASTOMA PREDISPOSITION SYNDROME |
ClinVar |
PMID:15016963 PMID:15254419 PMID:15520168 PMID:15608678 PMID:15647370 PMID:15805248 PMID:16353168 PMID:16906227 PMID:16930767 PMID:17376864 PMID:17673550 PMID:18371219 PMID:18676830 PMID:18725974 PMID:19029981 PMID:19223544 PMID:19366826 PMID:19513541 PMID:19671852 PMID:19903786 PMID:20177704 PMID:20453058 PMID:20593314 PMID:20619739 PMID:21430269 PMID:21558396 PMID:21824802 PMID:22162582 PMID:22162589 PMID:22271473 PMID:22370636 PMID:22658544 PMID:22729222 PMID:22729224 PMID:23066039 PMID:23100325 PMID:23946963 PMID:24033266 PMID:24782230 PMID:25157968 PMID:25741868 PMID:25915946 PMID:26266975 PMID:26266985 PMID:26619011 PMID:26627007 PMID:26822237 PMID:27126994 PMID:27626068 PMID:27631024 PMID:28492532 PMID:29446767 PMID:29988677 PMID:31536475 PMID:31775759 PMID:34008892 PMID:34496175 PMID:37712948 More...
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NCBI chr 3:179,148,126...179,240,093
Ensembl chr 3:179,148,114...179,240,093
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G |
PIK3CG |
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21652733 |
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NCBI chr 7:106,865,282...106,908,980
Ensembl chr 7:106,865,278...106,908,980
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G |
PRAME |
PRAME nuclear receptor transcriptional regulator |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16179254 |
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NCBI chr22:22,547,701...22,559,265
Ensembl chr22:22,547,701...22,559,361
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G |
PRKAR1A |
protein kinase cAMP-dependent type I regulatory subunit alpha |
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IAGP |
ClinVar Annotator: match by term: Medulloblastoma |
ClinVar |
PMID:26822237 PMID:28492532 |
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NCBI chr17:68,413,623...68,551,316
Ensembl chr17:68,511,780...68,551,319
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G |
PRMT5 |
protein arginine methyltransferase 5 |
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EXP |
CTD Direct Evidence: therapeutic |
CTD |
PMID:31694585 |
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NCBI chr14:22,920,529...22,929,376
Ensembl chr14:22,920,525...22,929,408
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PTCH1 |
patched 1 |
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EXP IAGP ISS ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Medulloblastoma OMIM:155255 |
CTD ClinVar MouseDO RGD |
PMID:16301862 PMID:16419085 PMID:18347096 PMID:19155313 PMID:19213072 PMID:22952776 PMID:25741868 PMID:28492532 PMID:19321799 More...
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RGD:150523834 |
NCBI chr 9:95,442,980...95,516,971
Ensembl chr 9:95,442,980...95,517,057
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PTCH2 |
patched 2 |
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IAGP EXP |
CTD Direct Evidence: marker/mechanism |
OMIM CTD |
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NCBI chr 1:44,819,845...44,843,253
Ensembl chr 1:44,819,844...44,843,253
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G |
RASSF1 |
Ras association domain family member 1 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21880625 |
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NCBI chr 3:50,329,788...50,340,836
Ensembl chr 3:50,329,782...50,340,980
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RB1 |
RB transcriptional corepressor 1 |
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ISO IAGP |
ClinVar Annotator: match by term: Medulloblastoma |
ClinVar RGD |
PMID:25741868 PMID:28492532 PMID:10783170 |
RGD:1302544 |
NCBI chr13:48,303,751...48,481,890
Ensembl chr13:48,303,744...48,599,436
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RET |
ret proto-oncogene |
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IAGP |
ClinVar Annotator: match by term: Medulloblastoma |
ClinVar |
PMID:11436122 PMID:24033266 PMID:25741868 PMID:28492532 PMID:36900197 |
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NCBI chr10:43,077,069...43,130,351
Ensembl chr10:43,077,064...43,130,351
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G |
S100A10 |
S100 calcium binding protein A10 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17579622 |
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NCBI chr 1:151,982,915...151,993,859
Ensembl chr 1:151,982,915...151,993,859
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G |
S100A4 |
S100 calcium binding protein A4 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17579622 |
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NCBI chr 1:153,543,621...153,545,806
Ensembl chr 1:153,543,613...153,550,136
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G |
S100A6 |
S100 calcium binding protein A6 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17579622 |
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NCBI chr 1:153,534,599...153,535,991
Ensembl chr 1:153,534,599...153,536,244
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G |
SCG5 |
secretogranin V |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17334394 |
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NCBI chr15:32,641,710...32,697,092
Ensembl chr15:32,641,676...32,697,098
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G |
SCML2 |
Scm polycomb group protein like 2 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19270706 |
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NCBI chr X:18,239,313...18,355,118
Ensembl chr X:18,239,313...18,354,688
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G |
SF3B2 |
splicing factor 3b subunit 2 |
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IAGP |
ClinVar Annotator: match by term: Medulloblastoma, somatic |
ClinVar |
PMID:26619011 |
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NCBI chr11:66,052,364...66,069,308
Ensembl chr11:66,050,729...66,069,308
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G |
SKP2 |
S-phase kinase associated protein 2 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19270706 |
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NCBI chr 5:36,152,111...36,193,530
Ensembl chr 5:36,151,989...36,196,849
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G |
SMARCA4 |
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 |
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IAGP |
ClinVar Annotator: match by term: Medulloblastoma |
ClinVar |
PMID:26822237 |
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NCBI chr19:10,961,030...11,062,273
Ensembl chr19:10,960,932...11,079,426
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SMO |
smoothened, frizzled class receptor |
treatment |
IAGP ISO |
ClinVar Annotator: match by term: Medulloblastoma |
ClinVar RGD |
PMID:19726788 PMID:22679179 PMID:25759020 PMID:22084163 |
RGD:150521622 |
NCBI chr 7:129,188,633...129,213,545
Ensembl chr 7:129,188,633...129,213,545
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G |
SMYD4 |
SET and MYND domain containing 4 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19270706 |
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NCBI chr17:1,779,485...1,829,902
Ensembl chr17:1,779,485...1,830,634
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G |
STAT3 |
signal transducer and activator of transcription 3 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19001435 |
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NCBI chr17:42,313,324...42,388,442
Ensembl chr17:42,313,324...42,388,568
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G |
STRADA |
STE20 related adaptor alpha |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21652733 |
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NCBI chr17:63,702,832...63,741,986
Ensembl chr17:63,682,336...63,741,986
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SUFU |
SUFU negative regulator of hedgehog signaling |
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IAGP EXP ISO |
ClinVar Annotator: match by term: Medulloblastoma ClinVar Annotator: match by term: MEDULLOBLASTOMA PREDISPOSITION SYNDROME CTD Direct Evidence: marker/mechanism protein:increased expression:brain (rat) |
ClinVar OMIM CTD RGD |
PMID:12068298 PMID:17102621 PMID:19533801 PMID:19833601 PMID:21188540 PMID:22508808 PMID:24651015 PMID:24728327 PMID:25326637 PMID:25403219 PMID:25741868 PMID:26467025 PMID:26580448 PMID:28492532 PMID:28717660 PMID:28873162 PMID:29186568 PMID:29641532 PMID:29753700 PMID:33024317 PMID:34056767 PMID:34675124 PMID:35768194 PMID:36825822 PMID:12068298 PMID:27234928 More...
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RGD:1599191, RGD:150573693 |
NCBI chr10:102,502,819...102,633,535
Ensembl chr10:102,503,972...102,633,535
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TP53 |
tumor protein p53 |
disease_progression |
ISO IAGP IEP |
ClinVar Annotator: match by term: MEDULLOBLASTOMA PREDISPOSITION SYNDROME ClinVar Annotator: match by term: Medulloblastoma ClinVar Annotator: match by term: Medulloblastoma, somatic protein:increased expression:nucleus: |
ClinVar RGD |
PMID:1359493 PMID:1565143 PMID:1565144 PMID:1631137 PMID:1644930 PMID:1683921 PMID:1737852 PMID:1978757 PMID:2046748 PMID:7732013 PMID:7887414 PMID:8023157 PMID:8062826 PMID:8099841 PMID:8118819 PMID:8164043 PMID:8423216 PMID:8425176 PMID:8479749 PMID:8527048 PMID:8825920 PMID:9096669 PMID:9150393 PMID:9242456 PMID:9290701 PMID:9399838 PMID:9407971 PMID:9546439 PMID:9569050 PMID:9598730 PMID:9632751 PMID:9635828 PMID:9704930 PMID:9825943 PMID:10089074 PMID:10411893 PMID:10797439 PMID:10864200 PMID:11051239 PMID:11139324 PMID:11180592 PMID:11370630 PMID:11479205 PMID:11782540 PMID:11793474 PMID:11920959 PMID:12007217 PMID:12672316 PMID:12826609 PMID:12917626 PMID:14743206 PMID:15004724 PMID:15017592 PMID:15037740 PMID:15381368 PMID:15390294 PMID:15607980 PMID:15607981 PMID:15722483 PMID:15825182 PMID:15951970 PMID:16401470 PMID:16489069 PMID:16682957 PMID:16818505 PMID:16861262 PMID:17308077 PMID:17417627 PMID:17427234 PMID:17540308 PMID:17606709 PMID:17636407 PMID:17881637 PMID:18511570 PMID:18685109 PMID:19378321 PMID:19454241 PMID:19556618 PMID:20013323 PMID:20113312 PMID:20128691 PMID:20407015 PMID:20516128 PMID:20522432 PMID:20693561 PMID:21059199 PMID:21187651 PMID:21305319 PMID:21319261 PMID:21343334 PMID:21445056 PMID:21484931 PMID:21519010 PMID:21535297 PMID:21552135 PMID:21601526 PMID:21761402 PMID:22006311 PMID:22110706 PMID:22186996 PMID:22233476 PMID:22265402 PMID:22484423 PMID:22710932 PMID:22713868 PMID:22811390 PMID:22899716 PMID:22915647 PMID:22919068 PMID:22955915 PMID:22983585 PMID:23161690 PMID:23165212 PMID:23172776 PMID:23175693 PMID:23246812 PMID:23263379 PMID:23538418 PMID:23612969 PMID:23667202 PMID:23792586 PMID:23950206 PMID:24033266 PMID:24038938 PMID:24381225 PMID:24487413 PMID:24501221 PMID:24573247 PMID:24603336 PMID:24641375 PMID:24651012 PMID:24651015 PMID:24677579 PMID:24810334 PMID:25157968 PMID:25339994 PMID:25503501 PMID:25525159 PMID:25584008 PMID:25612911 PMID:25741868 PMID:25787918 PMID:25925845 PMID:25927356 PMID:25952993 PMID:26014290 PMID:26024390 PMID:26230955 PMID:26271412 PMID:26332594 PMID:26467025 PMID:26585234 PMID:26619011 PMID:26681312 PMID:26786923 PMID:26787237 PMID:26822237 PMID:26845104 PMID:27276561 PMID:27374712 PMID:27463065 PMID:27680515 PMID:27683180 PMID:27724982 PMID:27895058 PMID:27959731 PMID:27993330 PMID:28152038 PMID:28369373 PMID:28453743 PMID:28472496 PMID:28492532 PMID:28724667 PMID:28861920 PMID:28873162 PMID:29025599 PMID:29070607 PMID:29478780 PMID:29489754 PMID:29752822 PMID:29979965 PMID:30076369 PMID:30216591 PMID:30224644 PMID:30287823 PMID:30327374 PMID:30546832 PMID:30816478 PMID:31105275 PMID:31119730 PMID:31127191 PMID:31296311 PMID:31748977 PMID:31775759 PMID:31882575 PMID:32000721 PMID:32187361 PMID:32906206 PMID:33245408 PMID:33257846 PMID:33300245 PMID:33372952 PMID:33471991 PMID:33633026 PMID:36988593 PMID:10783170 PMID:11451203 More...
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RGD:1302544, RGD:8547823 |
NCBI chr17:7,668,421...7,687,490
Ensembl chr17:7,661,779...7,687,538
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TSC2 |
TSC complex subunit 2 |
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IAGP |
DNA:polymorphism:intron |
RGD |
PMID:11603814 |
RGD:11072879 |
NCBI chr16:2,047,985...2,089,491
Ensembl chr16:2,047,967...2,089,491
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G |
TUBB4A |
tubulin beta 4A class IVa |
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IAGP |
ClinVar Annotator: match by term: Classic medulloblastoma |
ClinVar |
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NCBI chr19:6,494,319...6,502,848
Ensembl chr19:6,494,319...6,502,848
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G |
VAV1 |
vav guanine nucleotide exchange factor 1 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19270706 |
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NCBI chr19:6,772,708...6,857,361
Ensembl chr19:6,772,708...6,857,366
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G |
WRN |
WRN RecQ like helicase |
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IAGP |
ClinVar Annotator: match by term: Medulloblastoma |
ClinVar |
PMID:8968742 PMID:9225981 PMID:16673358 PMID:16786514 PMID:20301687 PMID:24033266 PMID:25182132 PMID:25390333 PMID:25741868 PMID:27667302 PMID:28492532 More...
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NCBI chr 8:31,033,810...31,176,138
Ensembl chr 8:31,033,788...31,176,138
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G |
MYCN |
MYCN proto-oncogene, bHLH transcription factor |
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IAGP |
ClinVar Annotator: match by term: megalencephaly-polydactyly syndrome |
ClinVar OMIM |
PMID:25741868 PMID:30573562 |
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NCBI chr 2:15,940,550...15,947,004
Ensembl chr 2:15,940,550...15,947,007
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G |
MYCNOS |
MYCN opposite strand |
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IAGP |
ClinVar Annotator: match by term: megalencephaly-polydactyly syndrome |
ClinVar |
PMID:25741868 PMID:30573562 |
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NCBI chr 2:15,936,265...15,942,433
Ensembl chr 2:15,918,350...15,942,249
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G |
CDKN2A |
cyclin dependent kinase inhibitor 2A |
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IAGP EXP |
ClinVar Annotator: match by term: Melanoma astrocytoma syndrome ClinVar Annotator: match by term: Melanoma and neural system tumor syndrome CTD Direct Evidence: marker/mechanism |
ClinVar CTD OMIM |
PMID:865368 PMID:2677576 PMID:5001868 PMID:7566978 PMID:7640518 PMID:7647780 PMID:7666917 PMID:7718873 PMID:7780957 PMID:7796400 PMID:7881419 PMID:7987387 PMID:7987388 PMID:8012957 PMID:8213823 PMID:8521414 PMID:8552158 PMID:8552400 PMID:8570179 PMID:8573142 PMID:8595405 PMID:8603820 PMID:8653684 PMID:8668202 PMID:8710906 PMID:8723678 PMID:8727306 PMID:8755727 PMID:8880901 PMID:9036865 PMID:9053859 PMID:9132280 PMID:9166859 PMID:9324288 PMID:9328469 PMID:9389568 PMID:9416844 PMID:9425228 PMID:9516223 PMID:9536098 PMID:9603434 PMID:9699728 PMID:9751050 PMID:9823374 PMID:9856841 PMID:9916806 PMID:10389768 PMID:10390011 PMID:10398427 PMID:10491434 PMID:10498896 PMID:10508477 PMID:10627132 PMID:10667595 PMID:10719365 PMID:10738302 PMID:10869234 PMID:10874641 PMID:10892805 PMID:10922411 PMID:10951521 PMID:10956390 PMID:11075991 PMID:11136714 PMID:11156381 PMID:11319798 PMID:11477665 PMID:11500805 PMID:11506491 PMID:11518711 PMID:11556834 PMID:11571653 PMID:11579459 PMID:11595726 PMID:11687599 PMID:11726555 PMID:11807902 PMID:11815963 PMID:12001124 PMID:12072543 PMID:12352668 PMID:12454511 PMID:12517341 PMID:12606942 PMID:12700603 PMID:12853981 PMID:14508519 PMID:14646620 PMID:14679123 PMID:15009729 PMID:15075790 PMID:15146471 PMID:15150307 PMID:15235029 PMID:15761864 PMID:15856016 PMID:15860862 PMID:15863662 PMID:15945100 PMID:16169933 PMID:16234564 PMID:16307646 PMID:16397522 PMID:16818274 PMID:16896043 PMID:16905682 PMID:17047042 PMID:17055252 PMID:17167857 PMID:17171691 PMID:17218939 PMID:17397031 PMID:17440112 PMID:17492760 PMID:17576681 PMID:17713569 PMID:17909018 PMID:17992122 PMID:18023021 PMID:18025365 PMID:18178632 PMID:18335566 PMID:18337833 PMID:18363633 PMID:18519632 PMID:18573309 PMID:18803811 PMID:18813118 PMID:18843795 PMID:18981015 PMID:18983535 PMID:19260062 PMID:19331830 PMID:19360740 PMID:19484507 PMID:19500876 PMID:19523171 PMID:19571771 PMID:19712690 PMID:19799798 PMID:20093296 PMID:20340136 PMID:20526219 PMID:20539244 PMID:20653773 PMID:20876876 PMID:21085193 PMID:21150883 PMID:21325014 PMID:21462282 PMID:21614589 PMID:21801156 PMID:21893440 PMID:22440936 PMID:22447455 PMID:22636603 PMID:22804906 PMID:22841127 PMID:23190892 PMID:23371019 PMID:23897584 PMID:24185512 PMID:24659262 PMID:24660985 PMID:24728327 PMID:24733792 PMID:24737347 PMID:24935963 PMID:25023876 PMID:25064638 PMID:25078331 PMID:25157968 PMID:25186627 PMID:25227142 PMID:25356972 PMID:25685612 PMID:25741868 PMID:25780468 PMID:25787093 PMID:25803691 PMID:25813228 PMID:25877891 PMID:25980754 PMID:26104880 PMID:26206375 PMID:26223839 PMID:26225579 PMID:26381259 PMID:26467025 PMID:26542317 PMID:26581427 PMID:26619011 PMID:26650189 PMID:26650572 PMID:26658419 PMID:26670561 PMID:26681309 PMID:26775776 PMID:26845104 PMID:27181379 PMID:27267843 PMID:27287845 PMID:27756164 PMID:27804060 PMID:27960642 PMID:27993330 PMID:28060055 PMID:28135145 PMID:28146043 PMID:28440912 PMID:28454591 PMID:28492532 PMID:28592523 PMID:28640387 PMID:28717660 PMID:28726808 PMID:28765326 PMID:28830827 PMID:28873162 PMID:28944238 PMID:28979722 PMID:29091774 PMID:29263814 PMID:29316957 PMID:29464027 PMID:29506128 PMID:29541281 PMID:29543703 PMID:29641532 PMID:29661971 PMID:29684080 PMID:29774366 PMID:29922827 PMID:29945567 PMID:29983899 PMID:30038052 PMID:30039340 PMID:30113427 PMID:30207590 PMID:30274933 PMID:30291219 PMID:30303537 PMID:30339520 PMID:30548481 PMID:30709382 PMID:30967399 PMID:31382929 PMID:31432501 PMID:31517177 PMID:31567591 PMID:31921681 PMID:32113160 PMID:32191290 PMID:32455486 PMID:32482799 PMID:32957588 PMID:33050356 PMID:33322357 PMID:33436027 PMID:33753322 PMID:33766116 PMID:33823155 PMID:33945383 PMID:34028844 PMID:34069952 PMID:35001868 PMID:35171259 PMID:35264596 PMID:35566480 PMID:109563903 More...
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NCBI chr 9:21,967,752...21,995,324
Ensembl chr 9:21,967,752...21,995,301
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G |
CDKN2B-AS1 |
CDKN2B antisense RNA 1 |
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IAGP |
ClinVar Annotator: match by term: Melanoma and neural system tumor syndrome |
ClinVar |
PMID:11136714 |
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NCBI chr 9:21,994,791...22,128,142
Ensembl chr 9:21,994,139...22,128,103
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G |
LOC130001603 |
ATAC-STARR-seq lymphoblastoid silent region 19811 |
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IAGP |
ClinVar Annotator: match by term: Melanoma and neural system tumor syndrome |
ClinVar |
PMID:7881419 PMID:8570179 PMID:8653684 PMID:8727306 PMID:9916806 PMID:10738302 PMID:16397522 PMID:16896043 PMID:17713569 PMID:18025365 PMID:18337833 PMID:19523171 PMID:20093296 PMID:25023876 PMID:25741868 PMID:25780468 PMID:26467025 PMID:26581427 PMID:26681309 PMID:26775776 PMID:28492532 PMID:29263814 PMID:31567591 More...
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NCBI chr 9:21,974,815...21,974,864
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G |
LOC130001606 |
ATAC-STARR-seq lymphoblastoid silent region 19813 |
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IAGP |
ClinVar Annotator: match by term: Melanoma and neural system tumor syndrome |
ClinVar |
PMID:11136714 |
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NCBI chr 9:21,994,465...21,994,724
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G |
LOC130001607 |
ATAC-STARR-seq lymphoblastoid silent region 19814 |
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IAGP |
ClinVar Annotator: match by term: Melanoma and neural system tumor syndrome |
ClinVar |
PMID:11136714 |
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NCBI chr 9:21,995,045...21,995,244
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G |
RTEL1 |
regulator of telomere elongation helicase 1 |
susceptibility |
IAGP |
DNA:SNPs:multiple:multiple (human) |
RGD |
PMID:30462709 |
RGD:152977767 |
NCBI chr20:63,657,810...63,696,253
Ensembl chr20:63,657,810...63,696,253
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G |
ABCB1 |
ATP binding cassette subfamily B member 1 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:8761367 |
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NCBI chr 7:87,503,017...87,713,295
Ensembl chr 7:87,503,017...87,713,323
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G |
ALK |
ALK receptor tyrosine kinase |
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IAGP EXP |
ClinVar Annotator: match by term: Neuroblastoma Susceptibility CTD Direct Evidence: marker/mechanism |
ClinVar CTD |
PMID:2124297 PMID:18724359 PMID:18923523 PMID:18923524 PMID:18923525 PMID:18990089 PMID:20576349 PMID:21030459 PMID:21242967 PMID:21575866 PMID:21804922 PMID:21823617 PMID:21838707 PMID:21859094 PMID:21948233 PMID:21972109 PMID:22071890 PMID:22072639 PMID:22277784 PMID:22286764 PMID:22588779 PMID:22789543 PMID:22920921 PMID:22932897 PMID:22968692 PMID:23104988 PMID:23334666 PMID:24205241 PMID:24327273 PMID:24675991 PMID:25517749 PMID:25741868 PMID:26619011 PMID:26829053 PMID:27132509 PMID:28492532 PMID:28873162 PMID:29489754 PMID:30004444 PMID:30350464 PMID:30605844 More...
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NCBI chr 2:29,192,774...29,921,586
Ensembl chr 2:29,192,774...29,921,586
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G |
ALOX5AP |
arachidonate 5-lipoxygenase activating protein |
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IEP |
mRNA, protein:increased expression:neuroblastoma (human) |
RGD |
PMID:18591367 |
RGD:2313903 |
NCBI chr13:30,713,485...30,764,426
Ensembl chr13:30,713,478...30,764,426
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G |
ARID1A |
AT-rich interaction domain 1A |
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IAGP EXP |
DNA:mutations,loss of heterozygosity: : CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:23202128 PMID:23202128 |
RGD:13439724 |
NCBI chr 1:26,696,015...26,782,104
Ensembl chr 1:26,693,236...26,782,104
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G |
ARID1B |
AT-rich interaction domain 1B |
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IAGP EXP |
DNA:deletion,haploinsufficiency: : CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:23202128 PMID:23202128 |
RGD:13439724 |
NCBI chr 6:156,776,026...157,210,779
Ensembl chr 6:156,776,020...157,210,779
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G |
ATRX |
ATRX chromatin remodeler |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23334666 PMID:26523776 |
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NCBI chr X:77,504,880...77,786,216
Ensembl chr X:77,504,880...77,786,233
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G |
AURKA |
aurora kinase A |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22588779 |
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NCBI chr20:56,369,390...56,392,215
Ensembl chr20:56,369,389...56,392,337
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G |
BARD1 |
BRCA1 associated RING domain 1 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19412175 PMID:23334666 |
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NCBI chr 2:214,725,646...214,809,683
Ensembl chr 2:214,725,646...214,809,683
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G |
BCHE |
butyrylcholinesterase |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:2317787 |
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NCBI chr 3:165,772,904...165,837,423
Ensembl chr 3:165,772,904...165,837,462
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G |
BIRC2 |
baculoviral IAP repeat containing 2 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:34626302 |
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NCBI chr11:102,347,214...102,378,670
Ensembl chr11:102,347,211...102,378,670
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G |
BIRC3 |
baculoviral IAP repeat containing 3 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:34626302 |
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NCBI chr11:102,317,484...102,339,403
Ensembl chr11:102,317,484...102,339,403
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G |
BRCA2 |
BRCA2 DNA repair associated |
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IAGP |
ClinVar Annotator: match by term: Neuroblastoma |
ClinVar |
PMID:16284991 PMID:19043619 PMID:20127978 PMID:21702907 PMID:22034289 PMID:22711857 PMID:24163242 PMID:25741868 PMID:26467025 PMID:26822237 PMID:28492532 PMID:29884841 PMID:30287823 PMID:31112341 PMID:31131967 PMID:31294896 PMID:31911673 PMID:33428613 PMID:33471991 PMID:33609447 More...
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NCBI chr13:32,315,508...32,400,268
Ensembl chr13:32,315,086...32,400,268
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G |
CD44 |
CD44 molecule (IN blood group) |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:34626302 |
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NCBI chr11:35,139,171...35,232,402
Ensembl chr11:35,138,882...35,232,402
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G |
CD55 |
CD55 molecule (Cromer blood group) |
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ISO |
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RGD |
PMID:10850450 |
RGD:2326181 |
NCBI chr 1:207,321,678...207,360,966
Ensembl chr 1:207,321,519...207,386,804
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G |
CDKN2A |
cyclin dependent kinase inhibitor 2A |
treatment |
IDA EXP |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:15814359 PMID:24714808 |
RGD:10043806 |
NCBI chr 9:21,967,752...21,995,324
Ensembl chr 9:21,967,752...21,995,301
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G |
CHAF1A |
chromatin assembly factor 1 subunit A |
disease_progression |
IEP IMP |
mRNA:increased expression: : |
RGD |
PMID:24335960 PMID:24335960 |
RGD:9587458, RGD:9587458 |
NCBI chr19:4,402,640...4,450,830
Ensembl chr19:4,402,640...4,445,018
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G |
CHD5 |
chromodomain helicase DNA binding protein 5 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26121086 |
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NCBI chr 1:6,101,787...6,180,321
Ensembl chr 1:6,101,787...6,180,321
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G |
CHD6 |
chromodomain helicase DNA binding protein 6 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18577749 |
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NCBI chr20:41,402,083...41,618,377
Ensembl chr20:41,402,083...41,618,384
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G |
CHEK2 |
checkpoint kinase 2 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23334666 |
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NCBI chr22:28,687,743...28,741,834
Ensembl chr22:28,687,743...28,742,422
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G |
DBH |
dopamine beta-hydroxylase |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25174395 |
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NCBI chr 9:133,636,363...133,659,329
Ensembl chr 9:133,636,363...133,659,329
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G |
DOCK8 |
dedicator of cytokinesis 8 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26121086 |
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NCBI chr 9:211,257...465,255
Ensembl chr 9:214,854...465,259
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G |
ESR1 |
estrogen receptor 1 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27366082 |
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NCBI chr 6:151,656,672...152,129,619
Ensembl chr 6:151,656,691...152,129,619
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G |
FANCA |
FA complementation group A |
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IAGP |
ClinVar Annotator: match by term: Neuroblastoma |
ClinVar |
PMID:9536098 PMID:15059067 PMID:17576681 PMID:24584348 PMID:25741868 PMID:27041517 PMID:28060124 PMID:28492532 PMID:29098742 More...
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NCBI chr16:89,737,549...89,816,647
Ensembl chr16:89,726,683...89,816,977
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G |
FGFR1 |
fibroblast growth factor receptor 1 |
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IAGP |
ClinVar Annotator: match by term: Neuroblastoma |
ClinVar |
PMID:10766980 PMID:23819449 PMID:25741868 PMID:26619011 PMID:26822237 PMID:26942290 PMID:27626068 More...
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NCBI chr 8:38,411,143...38,468,635
Ensembl chr 8:38,400,215...38,468,834
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G |
FGFR3 |
fibroblast growth factor receptor 3 |
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IAGP |
ClinVar Annotator: match by term: Neuroblastoma |
ClinVar |
PMID:26822237 |
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NCBI chr 4:1,793,293...1,808,867
Ensembl chr 4:1,793,293...1,808,872
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G |
GATA3 |
GATA binding protein 3 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30127528 |
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NCBI chr10:8,045,333...8,075,198
Ensembl chr10:8,045,378...8,075,198
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G |
GNAS |
GNAS complex locus |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20862257 |
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NCBI chr20:58,839,748...58,911,192
Ensembl chr20:58,839,718...58,911,192
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G |
HACE1 |
HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22941191 |
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NCBI chr 6:104,728,094...104,859,919
Ensembl chr 6:104,728,094...104,859,919
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G |
HAND2 |
heart and neural crest derivatives expressed 2 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30127528 |
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NCBI chr 4:173,526,091...173,530,229
Ensembl chr 4:173,524,969...173,530,229
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G |
HGF |
hepatocyte growth factor |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16051641 |
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NCBI chr 7:81,699,010...81,770,047
Ensembl chr 7:81,699,010...81,770,438
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G |
HRAS |
HRas proto-oncogene, GTPase |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15814359 PMID:26121086 |
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NCBI chr11:532,242...535,576
Ensembl chr11:532,242...537,321
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G |
IFNB1 |
interferon beta 1 |
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EXP |
CTD Direct Evidence: therapeutic |
CTD |
PMID:16115947 |
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NCBI chr 9:21,077,104...21,077,942
Ensembl chr 9:21,077,104...21,077,942
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G |
IGF1R |
insulin like growth factor 1 receptor |
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IMP |
protein: decreased tyrosine phosphorylation: : Y1131 |
RGD |
PMID:17121898 |
RGD:7242922 |
NCBI chr15:98,648,539...98,964,530
Ensembl chr15:98,648,539...98,964,530
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G |
IGF2BP1 |
insulin like growth factor 2 mRNA binding protein 1 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:37246217 |
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NCBI chr17:48,996,558...49,056,145
Ensembl chr17:48,997,385...49,056,145
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G |
IL18 |
interleukin 18 |
susceptibility |
ISO |
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RGD |
PMID:16428511 |
RGD:8655920 |
NCBI chr11:112,143,260...112,164,094
Ensembl chr11:112,143,253...112,164,096
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G |
IL1B |
interleukin 1 beta |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:34626302 |
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NCBI chr 2:112,829,751...112,836,779
Ensembl chr 2:112,829,751...112,836,816
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G |
ISL1 |
ISL LIM homeobox 1 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30127528 |
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NCBI chr 5:51,383,448...51,394,730
Ensembl chr 5:51,383,448...51,394,730
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G |
KIF1B |
kinesin family member 1B |
susceptibility |
IAGP EXP |
ClinVar Annotator: match by term: Neuroblastoma ClinVar Annotator: match by term: Neuroblastoma, susceptibility to, 1 CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: NEUROBLASTOMA, SUSCEPTIBILITY TO, 1 |
ClinVar OMIM CTD |
PMID:18334619 PMID:24033266 PMID:24469107 PMID:24694336 PMID:25741868 PMID:28492532 PMID:30126838 PMID:30487145 PMID:32376792 PMID:33362715 More...
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NCBI chr 1:10,210,570...10,381,603
Ensembl chr 1:10,210,570...10,381,603
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G |
KRAS |
KRAS proto-oncogene, GTPase |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26121086 |
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NCBI chr12:25,205,246...25,250,929
Ensembl chr12:25,205,246...25,250,936
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G |
LIN28B |
lin-28 homolog B |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22941191 PMID:23042116 |
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NCBI chr 6:104,937,026...105,083,332
Ensembl chr 6:104,936,616...105,083,332
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G |
LOC112577475 |
H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:110883828-110884393 |
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IAGP |
ClinVar Annotator: match by term: Neuroblastoma |
ClinVar |
PMID:26822237 |
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NCBI chr 1:110,341,206...110,341,771
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G |
LOC126805614 |
BRD4-independent group 4 enhancer GRCh37_chr1:10385546-10386745 |
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IAGP |
ClinVar Annotator: match by term: Neuroblastoma |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 1:10,325,488...10,326,687
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G |
LOC129388447 |
MPRA-validated peak65 silencer |
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IAGP |
ClinVar Annotator: match by term: Neuroblastoma |
ClinVar |
PMID:28492532 |
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NCBI chr 1:10,261,817...10,262,017
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G |
LOC129929363 |
ATAC-STARR-seq lymphoblastoid silent region 243 |
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IAGP |
ClinVar Annotator: match by term: Neuroblastoma |
ClinVar |
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G |
LOC129929365 |
ATAC-STARR-seq lymphoblastoid silent region 244 |
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IAGP |
ClinVar Annotator: match by term: Neuroblastoma |
ClinVar |
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G |
LOC130002133 |
ATAC-STARR-seq lymphoblastoid silent region 20071 |
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IAGP |
ClinVar Annotator: match by term: Neuroblastoma |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 9:95,508,202...95,508,521
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G |
MAP2K4 |
mitogen-activated protein kinase kinase 4 |
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IAGP |
ClinVar Annotator: match by term: Neuroblastoma |
ClinVar |
PMID:26822237 |
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NCBI chr17:12,020,877...12,143,828
Ensembl chr17:12,020,829...12,143,830
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G |
MAP2K7 |
mitogen-activated protein kinase kinase 7 |
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IAGP |
ClinVar Annotator: match by term: Neuroblastoma |
ClinVar |
PMID:26822237 |
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NCBI chr19:7,903,877...7,914,478
Ensembl chr19:7,903,843...7,914,478
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G |
MEN1 |
menin 1 |
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IAGP |
ClinVar Annotator: match by term: Neuroblastoma |
ClinVar |
PMID:25741868 |
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NCBI chr11:64,803,516...64,811,294
Ensembl chr11:64,803,510...64,811,294
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G |
MET |
MET proto-oncogene, receptor tyrosine kinase |
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IAGP EXP |
ClinVar Annotator: match by term: Neuroblastoma CTD Direct Evidence: marker/mechanism |
ClinVar CTD |
PMID:16051641 PMID:26822237 |
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NCBI chr 7:116,672,196...116,798,377
Ensembl chr 7:116,672,196...116,798,377
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G |
MMP9 |
matrix metallopeptidase 9 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:34626302 |
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NCBI chr20:46,008,908...46,016,561
Ensembl chr20:46,008,908...46,016,561
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G |
MT-CO2 |
mitochondrially encoded cytochrome c oxidase II |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15492235 |
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NCBI chr MT:7,586...8,269
Ensembl chr MT:7,586...8,269
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G |
MTFP1 |
mitochondrial fission process 1 |
severity |
IEP |
mRNA:increased expression:neural tissue (human) |
RGD |
PMID:27765905 |
RGD:12880392 |
NCBI chr22:30,425,768...30,429,054
Ensembl chr22:30,425,623...30,429,054
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G |
MYB |
MYB proto-oncogene, transcription factor |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:34626302 |
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NCBI chr 6:135,181,308...135,219,172
Ensembl chr 6:135,181,308...135,219,173
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G |
MYC |
MYC proto-oncogene, bHLH transcription factor |
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IAGP EXP |
ClinVar Annotator: match by term: Neuroblastoma CTD Direct Evidence: marker/mechanism |
ClinVar CTD |
PMID:8761367 PMID:25157968 PMID:26619011 PMID:34626302 |
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NCBI chr 8:127,735,434...127,742,951
Ensembl chr 8:127,735,434...127,742,951
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G |
MYCN |
MYCN proto-oncogene, bHLH transcription factor |
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IAGP EXP |
ClinVar Annotator: match by term: Neuroblastoma CTD Direct Evidence: marker/mechanism |
ClinVar CTD |
PMID:16051641 PMID:16989911 PMID:17283129 PMID:18353067 PMID:22286764 PMID:22789543 PMID:23042116 PMID:23334666 PMID:23500671 PMID:25174395 PMID:26523776 PMID:26619011 PMID:26733615 PMID:29379199 PMID:30127528 PMID:37246217 More...
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NCBI chr 2:15,940,550...15,947,004
Ensembl chr 2:15,940,550...15,947,007
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G |
MYCNOS |
MYCN opposite strand |
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IAGP |
ClinVar Annotator: match by term: Neuroblastoma |
ClinVar |
PMID:26619011 |
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NCBI chr 2:15,936,265...15,942,433
Ensembl chr 2:15,918,350...15,942,249
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G |
NME1 |
NME/NM23 nucleoside diphosphate kinase 1 |
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IAGP |
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RGD |
PMID:8047138 |
RGD:1600229 |
NCBI chr17:51,153,559...51,162,168
Ensembl chr17:51,153,559...51,162,428
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G |
NNAT |
neuronatin |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17762496 |
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NCBI chr20:37,521,250...37,523,690
Ensembl chr20:37,521,206...37,523,690
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G |
NODAL |
nodal growth differentiation factor |
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IEP |
mRNA:increased expression:neural tissue (human) |
RGD |
PMID:30985990 |
RGD:155226876 |
NCBI chr10:70,431,936...70,447,951
Ensembl chr10:70,431,936...70,447,951
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G |
NRAS |
NRAS proto-oncogene, GTPase |
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EXP IAGP |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Neuroblastoma |
CTD ClinVar |
PMID:2674680 PMID:8120410 PMID:10821536 PMID:12460918 PMID:15899789 PMID:16273091 PMID:16291983 PMID:17699718 PMID:18390968 PMID:18633438 PMID:18668139 PMID:18948947 PMID:19657110 PMID:19966803 PMID:20130576 PMID:20179705 PMID:20619739 PMID:20736745 PMID:21107323 PMID:21305640 PMID:21729679 PMID:21829508 PMID:22718121 PMID:22761467 PMID:23334666 PMID:23392294 PMID:23400451 PMID:23414587 PMID:23515407 PMID:23538902 PMID:23569304 PMID:23614898 PMID:24148783 PMID:24671188 PMID:25348872 PMID:25695684 PMID:25741868 PMID:26619011 PMID:26821351 PMID:27050078 PMID:28492532 PMID:28780248 More...
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NCBI chr 1:114,704,469...114,716,771
Ensembl chr 1:114,704,469...114,716,771
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G |
NSD1 |
nuclear receptor binding SET domain protein 1 |
severity |
IAGP |
DNA:hypermethylation:promoter:CpG islands (human) |
RGD |
PMID:20018718 |
RGD:9590155 |
NCBI chr 5:177,131,798...177,300,213
Ensembl chr 5:177,131,830...177,300,213
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G |
NT5E |
5'-nucleotidase ecto |
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EXP |
CTD Direct Evidence: therapeutic |
CTD |
PMID:34773529 |
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NCBI chr 6:85,450,083...85,495,784
Ensembl chr 6:85,449,584...85,495,791
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G |
NTRK1 |
neurotrophic receptor tyrosine kinase 1 |
disease_progression |
IEP EXP |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:16989911 PMID:8433391 |
RGD:5684545 |
NCBI chr 1:156,815,750...156,881,850
Ensembl chr 1:156,815,636...156,881,850
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G |
NTRK2 |
neurotrophic receptor tyrosine kinase 2 |
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IAGP EXP |
ClinVar Annotator: match by term: Neuroblastoma CTD Direct Evidence: marker/mechanism |
ClinVar CTD |
PMID:16051641 PMID:26822237 |
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NCBI chr 9:84,668,522...85,027,054
Ensembl chr 9:84,668,375...85,095,751
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G |
PAK4 |
p21 (RAC1) activated kinase 4 |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29048629 |
|
NCBI chr19:39,125,786...39,182,816
Ensembl chr19:39,125,770...39,182,816
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G |
PECAM1 |
platelet and endothelial cell adhesion molecule 1 |
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IDA |
human tumor in mouse model |
RGD |
PMID:22174364 |
RGD:6767296 |
NCBI chr17:64,319,415...64,390,860
Ensembl chr17:64,319,415...64,413,776
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G |
PHF6 |
PHD finger protein 6 |
|
IAGP |
ClinVar Annotator: match by term: Neuroblastoma |
ClinVar |
PMID:26822237 |
|
NCBI chr X:134,373,312...134,428,790
Ensembl chr X:134,373,288...134,428,791
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G |
PHOX2B |
paired like homeobox 2B |
exacerbates |
IAGP IMP EXP |
ClinVar Annotator: match by term: Neuroblastoma human cell line in a mouse model CTD Direct Evidence: marker/mechanism |
ClinVar CTD RGD |
PMID:25174395 PMID:30127528 PMID:26840262 |
RGD:151667442 |
NCBI chr 4:41,744,082...41,748,725
Ensembl chr 4:41,744,082...41,748,725
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G |
PIK3CA |
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha |
|
IAGP |
ClinVar Annotator: match by term: Neuroblastoma |
ClinVar |
PMID:17376864 PMID:18074223 PMID:20581867 PMID:25741868 PMID:26619011 PMID:28492532 More...
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NCBI chr 3:179,148,126...179,240,093
Ensembl chr 3:179,148,114...179,240,093
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G |
PINK1 |
PTEN induced kinase 1 |
|
EXP IAGP |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Neuroblastoma |
CTD ClinVar |
PMID:23334666 PMID:25741868 |
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NCBI chr 1:20,633,458...20,651,511
Ensembl chr 1:20,633,458...20,651,511
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G |
PINK1-AS |
PINK1 antisense RNA |
|
IAGP |
ClinVar Annotator: match by term: Neuroblastoma |
ClinVar |
PMID:25741868 |
|
NCBI chr 1:20,642,657...20,652,193
Ensembl chr 1:20,642,657...20,652,193
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G |
PRAME |
PRAME nuclear receptor transcriptional regulator |
severity |
IEP |
mRNA:increased expression:neural tissue (human) |
RGD |
PMID:15240516 |
RGD:11535044 |
NCBI chr22:22,547,701...22,559,265
Ensembl chr22:22,547,701...22,559,361
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G |
PSMD14 |
proteasome 26S subunit, non-ATPase 14 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30871063 |
|
NCBI chr 2:161,308,425...161,411,717
Ensembl chr 2:161,308,425...161,411,717
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G |
PTCH1 |
patched 1 |
|
IAGP |
ClinVar Annotator: match by term: Neuroblastoma |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr 9:95,442,980...95,516,971
Ensembl chr 9:95,442,980...95,517,057
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G |
PTPN11 |
protein tyrosine phosphatase non-receptor type 11 |
|
IAGP EXP |
ClinVar Annotator: match by term: Neuroblastoma CTD Direct Evidence: marker/mechanism |
ClinVar CTD |
PMID:11704759 PMID:12161469 PMID:12634870 PMID:12717436 PMID:14644997 PMID:14974085 PMID:14982869 PMID:15385933 PMID:15710330 PMID:15834506 PMID:15842656 PMID:15928039 PMID:16358218 PMID:16518851 PMID:16830086 PMID:17177198 PMID:17942397 PMID:17972951 PMID:18470943 PMID:18559669 PMID:18678287 PMID:18759865 PMID:19047918 PMID:19179468 PMID:19509418 PMID:19798502 PMID:21901340 PMID:21930766 PMID:22190897 PMID:23334666 PMID:23756559 PMID:23825065 PMID:23832011 PMID:24033266 PMID:25097206 PMID:25395418 PMID:25741868 PMID:26619011 PMID:26783207 PMID:26918529 PMID:27069254 PMID:27276561 PMID:27783593 PMID:28074573 PMID:28098151 PMID:28492532 PMID:30868567 PMID:30896080 PMID:32561839 PMID:36349709 More...
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NCBI chr12:112,418,947...112,509,918
Ensembl chr12:112,418,351...112,509,918
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G |
PTPN14 |
protein tyrosine phosphatase non-receptor type 14 |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26121086 |
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NCBI chr 1:214,348,700...214,551,602
Ensembl chr 1:214,348,700...214,552,449
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G |
RASSF1 |
Ras association domain family member 1 |
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TAS |
|
RGD |
PMID:12222680 PMID:17325427 |
RGD:2291977, RGD:2291979 |
NCBI chr 3:50,329,788...50,340,836
Ensembl chr 3:50,329,782...50,340,980
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G |
RASSF5 |
Ras association domain family member 5 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18452173 |
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NCBI chr 1:206,507,531...206,589,448
Ensembl chr 1:206,507,531...206,589,448
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G |
RBM15 |
RNA binding motif protein 15 |
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IAGP |
ClinVar Annotator: match by term: Neuroblastoma |
ClinVar |
PMID:26822237 |
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NCBI chr 1:110,339,377...110,346,677
Ensembl chr 1:110,338,506...110,346,681
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G |
RELA |
RELA proto-oncogene, NF-kB subunit |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:34626302 |
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NCBI chr11:65,653,601...65,663,857
Ensembl chr11:65,653,599...65,663,090
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G |
SCNN1A |
sodium channel epithelial 1 subunit alpha |
disease_progression |
IEP |
Low levels of methylation correlate with improved survival |
RGD |
PMID:21314941 |
RGD:5509791 |
NCBI chr12:6,346,847...6,377,359
Ensembl chr12:6,346,843...6,377,730
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G |
SDHC |
succinate dehydrogenase complex subunit C |
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IAGP |
ClinVar Annotator: match by term: Neuroblastoma |
ClinVar |
PMID:21979946 PMID:25741868 PMID:28492532 |
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NCBI chr 1:161,314,381...161,363,206
Ensembl chr 1:161,314,381...161,363,206
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G |
SEMA3B |
semaphorin 3B |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17452250 |
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NCBI chr 3:50,267,652...50,277,546
Ensembl chr 3:50,267,558...50,277,546
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G |
SMARCA4 |
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 |
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IAGP |
ClinVar Annotator: match by term: Neuroblastoma |
ClinVar |
PMID:25741868 |
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NCBI chr19:10,961,030...11,062,273
Ensembl chr19:10,960,932...11,079,426
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G |
SNRPE |
small nuclear ribonucleoprotein polypeptide E |
severity |
IEP |
mRNA:decreased expression:neuroblastoma (human) |
RGD |
PMID:17075126 |
RGD:10755762 |
NCBI chr 1:203,861,599...203,871,152
Ensembl chr 1:203,861,599...203,871,152
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G |
TBX2 |
T-box transcription factor 2 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30127528 |
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NCBI chr17:61,399,843...61,409,466
Ensembl chr17:61,399,843...61,409,466
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G |
TERT |
telomerase reverse transcriptase |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26523776 |
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NCBI chr 5:1,253,167...1,295,068
Ensembl chr 5:1,253,147...1,295,068
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G |
TH |
tyrosine hydroxylase |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25174395 |
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NCBI chr11:2,163,929...2,171,815
Ensembl chr11:2,163,929...2,171,815
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G |
TNF |
tumor necrosis factor |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:34626302 |
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NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336
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G |
TNFSF10 |
TNF superfamily member 10 |
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EXP |
CTD Direct Evidence: therapeutic |
CTD |
PMID:16820965 |
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NCBI chr 3:172,505,508...172,523,430
Ensembl chr 3:172,505,508...172,523,475
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G |
TP53 |
tumor protein p53 |
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ISO IAGP |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Neuroblastoma |
CTD ClinVar |
PMID:7651740 PMID:9546439 PMID:10064694 PMID:10864200 PMID:11896595 PMID:12826609 PMID:15814359 PMID:15925506 PMID:17390010 PMID:17572079 PMID:19850740 PMID:20407015 PMID:21305319 PMID:21343334 PMID:23894400 PMID:25293557 PMID:25741868 PMID:26619011 PMID:27493922 PMID:28492532 PMID:29979965 PMID:30224644 PMID:34026625 PMID:34240179 More...
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NCBI chr17:7,668,421...7,687,490
Ensembl chr17:7,661,779...7,687,538
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G |
TP73 |
tumor protein p73 |
no_association |
IAGP |
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RGD |
PMID:9288759 |
RGD:1599583 |
NCBI chr 1:3,652,516...3,736,201
Ensembl chr 1:3,652,516...3,736,201
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G |
TSC1 |
TSC complex subunit 1 |
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IAGP |
ClinVar Annotator: match by term: Neuroblastoma |
ClinVar |
PMID:25741868 |
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NCBI chr 9:132,891,349...132,945,378
Ensembl chr 9:132,891,348...132,946,874
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G |
TSC2 |
TSC complex subunit 2 |
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IAGP |
ClinVar Annotator: match by term: Neuroblastoma |
ClinVar |
PMID:26822237 |
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NCBI chr16:2,047,985...2,089,491
Ensembl chr16:2,047,967...2,089,491
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G |
YAP1 |
Yes1 associated transcriptional regulator |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26121086 |
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NCBI chr11:102,110,447...102,233,424
Ensembl chr11:102,110,447...102,233,424
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G |
ZNF276 |
zinc finger protein 276 |
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IAGP |
ClinVar Annotator: match by term: Neuroblastoma |
ClinVar |
PMID:9536098 PMID:15059067 PMID:17576681 PMID:24584348 PMID:25741868 PMID:27041517 PMID:28060124 PMID:28492532 PMID:29098742 More...
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NCBI chr16:89,720,368...89,740,925
Ensembl chr16:89,720,400...89,740,925
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G |
LOC110011216 |
paired like homeobox 2b polyalanine repeat instability region |
|
IAGP |
ClinVar Annotator: match by term: Neuroblastoma 2 ClinVar Annotator: match by term: Neuroblastoma, susceptibility to, 2 |
ClinVar |
PMID:16830328 PMID:18079495 PMID:20208042 PMID:24033266 PMID:25741868 PMID:27153395 PMID:28492532 PMID:28873162 More...
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NCBI chr 4:41,745,975...41,746,028
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G |
PHOX2B |
paired like homeobox 2B |
susceptibility |
IAGP |
ClinVar Annotator: match by term: Neuroblastoma 2 ClinVar Annotator: match by term: Neuroblastoma, susceptibility to, 2 |
ClinVar OMIM |
PMID:12640453 PMID:15024693 PMID:15121777 PMID:15338462 PMID:15657873 PMID:15949893 PMID:16199547 PMID:16249188 PMID:16443855 PMID:16691592 PMID:16763219 PMID:16830328 PMID:17637745 PMID:17765533 PMID:18079495 PMID:19011468 PMID:19058226 PMID:20208042 PMID:23754957 PMID:23873030 PMID:24033266 PMID:24728327 PMID:25156769 PMID:25741868 PMID:27013732 PMID:27153395 PMID:28371199 PMID:28492532 PMID:28873162 PMID:29641532 PMID:33958749 More...
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NCBI chr 4:41,744,082...41,748,725
Ensembl chr 4:41,744,082...41,748,725
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G |
PHOX2B-AS1 |
PHOX2B antisense RNA 1 |
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IAGP |
ClinVar Annotator: match by term: Neuroblastoma 2 ClinVar Annotator: match by term: Neuroblastoma, susceptibility to, 2 |
ClinVar |
PMID:16199547 PMID:24033266 PMID:25156769 PMID:25741868 PMID:28492532 PMID:29641532 PMID:33958749 More...
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NCBI chr 4:41,748,349...41,796,437
Ensembl chr 4:41,748,293...41,824,119
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G |
ALK |
ALK receptor tyrosine kinase |
susceptibility |
IAGP |
ClinVar Annotator: match by term: Neuroblastoma 3 ClinVar Annotator: match by term: Neuroblastoma, susceptibility to, 3 ClinVar Annotator: match by term: ALK-related condition |
ClinVar OMIM |
PMID:2124297 PMID:9536098 PMID:15517393 PMID:16199547 PMID:16880530 PMID:17576681 PMID:18724359 PMID:18923523 PMID:18923524 PMID:18923525 PMID:18990089 PMID:21030459 PMID:21242967 PMID:21575866 PMID:21637378 PMID:21804922 PMID:21838707 PMID:21948233 PMID:21972109 PMID:22071890 PMID:22072639 PMID:22086496 PMID:22277784 PMID:22932897 PMID:23104988 PMID:23334666 PMID:23555315 PMID:24033266 PMID:24129244 PMID:24205241 PMID:24326041 PMID:24327273 PMID:24675991 PMID:24728327 PMID:25054154 PMID:25517749 PMID:25589003 PMID:25640679 PMID:25714698 PMID:25741868 PMID:25801821 PMID:25874976 PMID:25979929 PMID:26002608 PMID:26554404 PMID:26580448 PMID:26619011 PMID:26689913 PMID:26696773 PMID:26829053 PMID:27132509 PMID:27153395 PMID:27179218 PMID:27285993 PMID:27930734 PMID:28185914 PMID:28202063 PMID:28492532 PMID:28873162 PMID:28975465 PMID:29489754 PMID:29625052 PMID:29684080 PMID:30004444 PMID:30350464 PMID:30605844 PMID:30716324 PMID:30982079 PMID:30989433 PMID:31263571 PMID:32984025 PMID:32989326 PMID:33372952 PMID:33486679 PMID:33898318 PMID:36451132 More...
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NCBI chr 2:29,192,774...29,921,586
Ensembl chr 2:29,192,774...29,921,586
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G |
CLIP4 |
CAP-Gly domain containing linker protein family member 4 |
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IAGP |
ClinVar Annotator: match by term: Neuroblastoma 3 |
ClinVar |
PMID:28492532 |
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NCBI chr 2:29,097,726...29,183,808
Ensembl chr 2:29,097,705...29,199,777
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G |
LOC105374389 |
uncharacterized LOC105374389 |
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IAGP |
ClinVar Annotator: match by term: Neuroblastoma 3 |
ClinVar |
PMID:28492532 |
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NCBI chr 2:29,474,734...29,475,377
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G |
LOC122756683 |
Sharpr-MPRA regulatory region 127 |
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IAGP |
ClinVar Annotator: match by term: Neuroblastoma 3 ClinVar Annotator: match by term: Neuroblastoma, susceptibility to, 3 |
ClinVar |
PMID:25640679 PMID:28492532 |
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NCBI chr 2:29,374,823...29,375,117
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G |
LOC122756684 |
Sharpr-MPRA regulatory region 9206 |
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IAGP |
ClinVar Annotator: match by term: Neuroblastoma 3 |
ClinVar |
PMID:28492532 |
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NCBI chr 2:29,522,283...29,522,577
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G |
PCARE |
photoreceptor cilium actin regulator |
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IAGP |
ClinVar Annotator: match by term: Neuroblastoma 3 |
ClinVar |
PMID:28492532 |
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NCBI chr 2:29,061,695...29,074,523
Ensembl chr 2:29,060,976...29,074,523
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G |
TOGARAM2 |
TOG array regulator of axonemal microtubules 2 |
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IAGP |
ClinVar Annotator: match by term: Neuroblastoma 3 |
ClinVar |
PMID:28492532 |
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NCBI chr 2:28,956,518...29,052,230
Ensembl chr 2:28,956,611...29,052,230
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G |
WDR43 |
WD repeat domain 43 |
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IAGP |
ClinVar Annotator: match by term: Neuroblastoma 3 |
ClinVar |
PMID:28492532 |
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NCBI chr 2:28,894,667...28,948,219
Ensembl chr 2:28,894,667...28,948,219
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G |
HIF1A |
hypoxia inducible factor 1 subunit alpha |
severity |
IEP |
protein:increased expression:neuroblastoma (human) |
RGD |
PMID:18431543 |
RGD:8694471 |
NCBI chr14:61,695,513...61,748,258
Ensembl chr14:61,695,513...61,748,259
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G |
ATRX |
ATRX chromatin remodeler |
|
IAGP |
ClinVar Annotator: match by term: Oligodendroglioma |
ClinVar |
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NCBI chr X:77,504,880...77,786,216
Ensembl chr X:77,504,880...77,786,233
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G |
CAMK2B |
calcium/calmodulin dependent protein kinase II beta |
disease_progression |
ISO |
|
RGD |
PMID:15750623 |
RGD:13702479 |
NCBI chr 7:44,217,154...44,326,013
Ensembl chr 7:44,210,019...44,334,577
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G |
CIC |
capicua transcriptional repressor |
|
IAGP |
ClinVar Annotator: match by term: Oligodendroglioma |
ClinVar |
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NCBI chr19:42,268,530...42,295,796
Ensembl chr19:42,268,537...42,295,797
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G |
DTX1 |
deltex E3 ubiquitin ligase 1 |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21127729 |
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NCBI chr12:113,056,730...113,098,025
Ensembl chr12:113,056,730...113,098,028
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G |
EGF |
epidermal growth factor |
susceptibility |
IAGP |
DNA:polymorphism:promoter:GG genotypes were associated with increased risk. |
RGD |
PMID:17473192 |
RGD:13702474 |
NCBI chr 4:109,912,883...110,013,766
Ensembl chr 4:109,912,883...110,013,766
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G |
GDNF |
glial cell derived neurotrophic factor |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19138852 |
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NCBI chr 5:37,812,677...37,840,041
Ensembl chr 5:37,812,677...37,840,041
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G |
GFOD3P |
Gfo/Idh/MocA-like oxidoreductase domain containing 3, pseudogene |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20477830 |
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NCBI chr 1:3,735,984...3,747,373
Ensembl chr 1:3,735,511...3,747,373 Ensembl chr 1:3,735,511...3,747,373
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G |
HES1 |
hes family bHLH transcription factor 1 |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21127729 |
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NCBI chr 3:194,136,148...194,138,732
Ensembl chr 3:194,136,148...194,138,732
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G |
HEY1 |
hes related family bHLH transcription factor with YRPW motif 1 |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21127729 |
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NCBI chr 8:79,764,010...79,767,767
Ensembl chr 8:79,762,371...79,767,857
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G |
IDH1 |
isocitrate dehydrogenase (NADP(+)) 1 |
|
EXP IAGP |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Oligodendroglioma |
CTD ClinVar |
PMID:18772396 PMID:19657110 PMID:19798509 PMID:19818334 PMID:20160062 PMID:21446021 PMID:22160010 PMID:22397365 PMID:22417203 PMID:22898539 PMID:23558169 PMID:24606448 PMID:25043048 PMID:25157968 PMID:25741868 PMID:26619011 PMID:36201590 More...
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NCBI chr 2:208,236,227...208,255,071
Ensembl chr 2:208,236,229...208,266,074
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G |
IDH2 |
isocitrate dehydrogenase (NADP(+)) 2 |
|
EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20160062 |
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NCBI chr15:90,083,045...90,102,468
Ensembl chr15:90,083,045...90,102,477
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G |
MGMT |
O-6-methylguanine-DNA methyltransferase |
|
IAGP |
DNA:hypermethylation:promoter (human) |
RGD |
PMID:15455350 |
RGD:2317688 |
NCBI chr10:129,467,241...129,770,983
Ensembl chr10:129,467,190...129,770,983
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G |
PTGES3 |
prostaglandin E synthase 3 |
|
IEP |
protein:increased expression:brain cortex, white matter (human) |
RGD |
PMID:19347995 |
RGD:5688067 |
NCBI chr12:56,663,349...56,688,284
Ensembl chr12:56,663,341...56,688,408
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G |
RB1 |
RB transcriptional corepressor 1 |
disease_progression |
IAGP |
|
RGD |
PMID:15970925 |
RGD:13782064 |
NCBI chr13:48,303,751...48,481,890
Ensembl chr13:48,303,744...48,599,436
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G |
ALX4 |
ALX homeobox 4 |
|
IAGP |
ClinVar Annotator: match by term: Optic nerve glioma |
ClinVar |
PMID:25741868 |
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NCBI chr11:44,260,440...44,310,139
Ensembl chr11:44,260,440...44,310,139
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CX3CR1 |
C-X3-C motif chemokine receptor 1 |
onset |
ISO |
associated with Neurofibromatosis 1 |
RGD |
PMID:23424002 |
RGD:9491391 |
NCBI chr 3:39,263,494...39,292,966
Ensembl chr 3:39,263,495...39,281,735
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NF1 |
neurofibromin 1 |
susceptibility |
IAGP |
associated with Neurofibromatosis 1; DNA:mutations:5'end: ClinVar Annotator: match by term: Optic nerve glioma |
ClinVar RGD |
PMID:10712197 PMID:16199547 PMID:23913538 PMID:25741868 PMID:28492532 PMID:29483232 PMID:21278392 More...
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RGD:12789442 |
NCBI chr17:31,094,927...31,377,677
Ensembl chr17:31,094,927...31,382,116
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ANKRD36C |
ankyrin repeat domain 36C |
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IAGP |
ClinVar Annotator: match by term: Peritoneal Gliomatosis |
ClinVar |
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NCBI chr 2:95,848,932...95,991,824
Ensembl chr 2:95,836,919...95,991,831
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FCGR1A |
Fc gamma receptor Ia |
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IAGP |
ClinVar Annotator: match by term: Peritoneal Gliomatosis |
ClinVar |
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NCBI chr 1:149,782,694...149,800,609
Ensembl chr 1:149,782,671...149,791,675
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H2BC18 |
H2B clustered histone 18 |
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IAGP |
ClinVar Annotator: match by term: Peritoneal Gliomatosis |
ClinVar |
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NCBI chr 1:149,782,689...149,812,370
Ensembl chr 1:149,782,689...149,812,373
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HLA-DRB1 |
major histocompatibility complex, class II, DR beta 1 |
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IAGP |
ClinVar Annotator: match by term: Peritoneal Gliomatosis |
ClinVar |
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NCBI chr 6:32,578,775...32,589,848
Ensembl chr 6:32,577,902...32,589,848
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FLCN |
folliculin |
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IAGP |
ClinVar Annotator: match by term: Pilocytic astrocytoma |
ClinVar |
PMID:15852235 PMID:16199547 PMID:25741868 PMID:28492532 |
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NCBI chr17:17,212,212...17,237,330
Ensembl chr17:17,212,212...17,237,188
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G |
KRAS |
KRAS proto-oncogene, GTPase |
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IAGP |
ClinVar Annotator: match by term: Pilocytic astrocytoma |
ClinVar |
PMID:12460918 PMID:15696205 PMID:16247081 PMID:16361624 PMID:16618717 PMID:17384584 PMID:18316791 PMID:18794081 PMID:19114683 PMID:19255327 PMID:19679400 PMID:19773371 PMID:20921462 PMID:20921465 PMID:21228335 PMID:23406027 PMID:24033266 PMID:25157968 More...
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NCBI chr12:25,205,246...25,250,929
Ensembl chr12:25,205,246...25,250,936
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G |
NF1 |
neurofibromin 1 |
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IAGP |
ClinVar Annotator: match by term: Pilocytic astrocytoma |
ClinVar |
PMID:10712197 PMID:23913538 PMID:25741868 PMID:28492532 |
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NCBI chr17:31,094,927...31,377,677
Ensembl chr17:31,094,927...31,382,116
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G |
PALB2 |
partner and localizer of BRCA2 |
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IAGP |
ClinVar Annotator: match by term: Pilocytic astrocytoma |
ClinVar |
PMID:25741868 PMID:26283626 PMID:28492532 PMID:28664506 PMID:32546565 |
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NCBI chr16:23,603,165...23,641,310
Ensembl chr16:23,603,160...23,641,321
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RET |
ret proto-oncogene |
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IAGP |
ClinVar Annotator: match by term: Pilocytic astrocytoma |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr10:43,077,069...43,130,351
Ensembl chr10:43,077,064...43,130,351
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SDHA |
succinate dehydrogenase complex flavoprotein subunit A |
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IAGP |
ClinVar Annotator: match by term: Pilocytic astrocytoma, somatic |
ClinVar |
PMID:20484225 PMID:21505157 PMID:21752896 PMID:22955521 PMID:22974104 PMID:23174939 PMID:23252569 PMID:23612575 PMID:23666964 PMID:23730622 PMID:24781757 PMID:25494863 PMID:25525159 PMID:25741868 PMID:26113600 PMID:26173966 PMID:26259135 PMID:26269449 PMID:26467025 PMID:26490314 PMID:26689913 PMID:27895137 PMID:28384794 PMID:28492532 PMID:28500238 PMID:28819017 PMID:29177515 PMID:29625052 PMID:29872718 PMID:29978154 PMID:29978187 PMID:30068732 PMID:30877234 PMID:31368675 PMID:31589614 PMID:31827275 PMID:32581362 PMID:32782288 PMID:33077847 PMID:33372952 PMID:33674644 PMID:33960148 PMID:35059314 PMID:35441217 More...
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NCBI chr 5:218,320...268,746
Ensembl chr 5:218,303...257,082
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FGFR1 |
fibroblast growth factor receptor 1 |
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IAGP |
ClinVar Annotator: match by term: Pilomyxoid astrocytoma |
ClinVar |
PMID:25705862 PMID:25741868 PMID:26619011 PMID:26942290 PMID:28492532 PMID:33448156 More...
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NCBI chr 8:38,411,143...38,468,635
Ensembl chr 8:38,400,215...38,468,834
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G |
EWSR1 |
EWS RNA binding protein 1 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:12162413 |
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NCBI chr22:29,268,268...29,300,521
Ensembl chr22:29,268,009...29,300,525
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G |
HES1 |
hes family bHLH transcription factor 1 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21127729 |
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NCBI chr 3:194,136,148...194,138,732
Ensembl chr 3:194,136,148...194,138,732
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G |
HEY1 |
hes related family bHLH transcription factor with YRPW motif 1 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21127729 |
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NCBI chr 8:79,764,010...79,767,767
Ensembl chr 8:79,762,371...79,767,857
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G |
NOTCH2 |
notch receptor 2 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21127729 |
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NCBI chr 1:119,911,553...120,069,662
Ensembl chr 1:119,911,553...120,100,779
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G |
PMS2 |
PMS1 homolog 2, mismatch repair system component |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15077197 |
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NCBI chr 7:5,970,925...6,009,106
Ensembl chr 7:5,970,925...6,009,130
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G |
PON1 |
paraoxonase 1 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16002382 |
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NCBI chr 7:95,297,676...95,324,532
Ensembl chr 7:95,297,676...95,324,532
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G |
PTCH1 |
patched 1 |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:9581815 |
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NCBI chr 9:95,442,980...95,516,971
Ensembl chr 9:95,442,980...95,517,057
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G |
SMO |
smoothened, frizzled class receptor |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:9581815 |
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NCBI chr 7:129,188,633...129,213,545
Ensembl chr 7:129,188,633...129,213,545
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TSC1 |
TSC complex subunit 1 |
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IAGP |
ClinVar Annotator: match by term: Primitive neuroectodermal tumor |
ClinVar |
PMID:16554133 PMID:21309039 PMID:22703879 PMID:23514105 PMID:25077650 PMID:25498131 PMID:25722345 PMID:25741868 PMID:26467025 PMID:27153395 PMID:28492532 PMID:30076350 PMID:31054281 More...
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NCBI chr 9:132,891,349...132,945,378
Ensembl chr 9:132,891,348...132,946,874
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G |
KIT |
KIT proto-oncogene, receptor tyrosine kinase |
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EXP |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15618851 |
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NCBI chr 4:54,657,957...54,740,715
Ensembl chr 4:54,657,267...54,740,783
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G |
CADM2 |
cell adhesion molecule 2 |
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IEP |
mRNA, protein:decreased expression:retina |
RGD |
PMID:30320366 |
RGD:15092072 |
NCBI chr 3:84,958,989...86,074,429
Ensembl chr 3:84,958,989...86,074,429
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G |
CDKN2A |
cyclin dependent kinase inhibitor 2A |
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IAGP |
ClinVar Annotator: match by term: Retinoblastoma |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 9:21,967,752...21,995,324
Ensembl chr 9:21,967,752...21,995,301
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G |
DICER1 |
dicer 1, ribonuclease III |
exacerbates |
ISO |
DNA:deletion:haploinsufficiency |
RGD |
PMID:20019750 |
RGD:149735324 |
NCBI chr14:95,086,228...95,158,010
Ensembl chr14:95,086,228...95,158,010
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G |
FANCM |
FA complementation group M |
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IAGP |
ClinVar Annotator: match by term: Retinoblastoma |
ClinVar |
PMID:25741868 |
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NCBI chr14:45,135,930...45,200,890
Ensembl chr14:45,135,930...45,200,890
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G |
FAS |
Fas cell surface death receptor |
severity |
IEP |
protein:decreased expression:tumor (human) |
RGD |
PMID:14533029 |
RGD:8662811 |
NCBI chr10:88,964,050...89,017,059
Ensembl chr10:88,953,813...89,029,605
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IFNB1 |
interferon beta 1 |
ameliorates |
IMP |
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RGD |
PMID:19306089 |
RGD:401854248 |
NCBI chr 9:21,077,104...21,077,942
Ensembl chr 9:21,077,104...21,077,942
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G |
ITM2B |
integral membrane protein 2B |
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IAGP |
ClinVar Annotator: match by term: Retinoblastoma |
ClinVar |
PMID:8099255 PMID:12541220 PMID:14722923 PMID:17096365 PMID:22180099 PMID:25741868 PMID:28492532 PMID:28575107 PMID:29568217 More...
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NCBI chr13:48,233,206...48,270,357
Ensembl chr13:48,232,612...48,270,357
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G |
KDM1B |
lysine demethylase 1B |
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IEP |
mRNA:increased expression:retina (human) |
RGD |
PMID:16180235 |
RGD:9588276 |
NCBI chr 6:18,155,422...18,223,854
Ensembl chr 6:18,155,329...18,223,854
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G |
LOC124885096 |
Sharpr-MPRA regulatory region 1366 |
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IAGP |
ClinVar Annotator: match by term: Retinoblastoma |
ClinVar |
PMID:25741868 |
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NCBI chr13:48,199,453...48,199,747
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G |
LOC130009751 |
ATAC-STARR-seq lymphoblastoid silent region 5331 |
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IAGP |
ClinVar Annotator: match by term: Retinoblastoma |
ClinVar |
PMID:25741868 |
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NCBI chr13:48,233,082...48,233,441
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G |
LOC130009752 |
ATAC-STARR-seq lymphoblastoid silent region 5332 |
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IAGP |
ClinVar Annotator: match by term: Retinoblastoma |
ClinVar |
PMID:25741868 |
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NCBI chr13:48,233,452...48,233,661
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G |
LOC130009753 |
ATAC-STARR-seq lymphoblastoid active region 7725 |
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IAGP |
ClinVar Annotator: match by term: Retinoblastoma |
ClinVar |
PMID:25741868 |
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NCBI chr13:48,287,247...48,287,306
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G |
LOC130009754 |
ATAC-STARR-seq lymphoblastoid active region 7726 |
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IAGP |
ClinVar Annotator: match by term: Retinoblastoma |
ClinVar |
PMID:12541220 PMID:17096365 PMID:21505449 PMID:22909775 PMID:25741868 PMID:28492532 More...
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NCBI chr13:48,304,403...48,304,452
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G |
LOC130009755 |
ATAC-STARR-seq lymphoblastoid active region 7727 |
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IAGP |
ClinVar Annotator: match by term: Retinoblastoma |
ClinVar |
PMID:12541220 PMID:17096365 PMID:21505449 PMID:22909775 PMID:25741868 PMID:28492532 More...
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NCBI chr13:48,304,693...48,304,762
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LPAR6 |
lysophosphatidic acid receptor 6 |
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IAGP |
ClinVar Annotator: match by term: Retinoblastoma |
ClinVar |
PMID:8099255 PMID:12541220 PMID:17096365 PMID:21505449 PMID:22909775 PMID:23301675 PMID:25640679 PMID:25741868 PMID:28492532 PMID:28575107 PMID:29568217 More...
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NCBI chr13:48,389,571...48,444,669
Ensembl chr13:48,389,567...48,444,704
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MAX |
MYC associated factor X |
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IAGP |
ClinVar Annotator: match by term: Retinoblastoma |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr14:65,006,101...65,102,695
Ensembl chr14:65,006,174...65,102,695
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G |
MED4 |
mediator complex subunit 4 |
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IAGP |
ClinVar Annotator: match by term: Retinoblastoma |
ClinVar |
PMID:8099255 PMID:12541220 PMID:14722923 PMID:17096365 PMID:22180099 PMID:28492532 PMID:28575107 PMID:29568217 More...
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NCBI chr13:48,075,724...48,095,104
Ensembl chr13:48,053,323...48,095,131
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G |
MGMT |
O-6-methylguanine-DNA methyltransferase |
disease_progression |
IAGP |
DNA:hypermethylation:promoter (human) |
RGD |
PMID:15799820 |
RGD:2317684 |
NCBI chr10:129,467,241...129,770,983
Ensembl chr10:129,467,190...129,770,983
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G |
MTR |
5-methyltetrahydrofolate-homocysteine methyltransferase |
susceptibility |
IAGP |
DNA:SNP::2756A>G(human) |
RGD |
PMID:20310006 |
RGD:8694083 |
NCBI chr 1:236,795,281...236,903,981
Ensembl chr 1:236,795,260...236,921,278
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MUTYH |
mutY DNA glycosylase |
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IAGP |
ClinVar Annotator: match by term: Retinoblastoma |
ClinVar |
PMID:25741868 PMID:26467025 PMID:26947005 PMID:28135145 PMID:28492532 PMID:30267214 PMID:33471991 PMID:34326862 More...
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NCBI chr 1:45,329,242...45,340,440
Ensembl chr 1:45,329,163...45,340,893
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G |
NF1 |
neurofibromin 1 |
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IAGP |
ClinVar Annotator: match by term: Retinoblastoma |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr17:31,094,927...31,377,677
Ensembl chr17:31,094,927...31,382,116
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G |
NUDT15 |
nudix hydrolase 15 |
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IAGP |
ClinVar Annotator: match by term: Retinoblastoma |
ClinVar |
PMID:8099255 PMID:12541220 PMID:14722923 PMID:17096365 PMID:22180099 PMID:28492532 PMID:28575107 PMID:29568217 More...
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NCBI chr13:48,037,726...48,052,755
Ensembl chr13:48,037,726...48,047,221
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G |
PALB2 |
partner and localizer of BRCA2 |
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IAGP |
ClinVar Annotator: match by term: Retinoblastoma |
ClinVar |
PMID:23555315 PMID:25085752 PMID:25741868 PMID:26467025 PMID:28492532 PMID:28873162 PMID:32832836 PMID:32868316 More...
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NCBI chr16:23,603,165...23,641,310
Ensembl chr16:23,603,160...23,641,321
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G |
PTCH1 |
patched 1 |
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IAGP |
ClinVar Annotator: match by term: Retinoblastoma |
ClinVar |
PMID:24728327 PMID:25741868 PMID:28492532 |
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NCBI chr 9:95,442,980...95,516,971
Ensembl chr 9:95,442,980...95,517,057
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G |
RB1 |
RB transcriptional corepressor 1 |
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IAGP EXP |
DNA:mutations:exon, intron:multiple ClinVar Annotator: match by term: Retinoblastoma ClinVar Annotator: match by term: Eye cancer, retinoblastoma CTD Direct Evidence: marker/mechanism |
ClinVar CTD OMIM RGD |
PMID:1298292 PMID:1352398 PMID:1352883 PMID:1534305 PMID:1577465 PMID:1662795 PMID:1881452 PMID:2181449 PMID:2594029 PMID:2601691 PMID:2673542 PMID:2748600 PMID:7704558 PMID:7795591 PMID:7881418 PMID:7927327 PMID:7981694 PMID:8049153 PMID:8099255 PMID:8118465 PMID:8217609 PMID:8346255 PMID:8364580 PMID:8605116 PMID:8651278 PMID:8756645 PMID:8776589 PMID:9311732 PMID:9341870 PMID:9400934 PMID:9495340 PMID:9536098 PMID:9632788 PMID:9639842 PMID:9671401 PMID:9973307 PMID:10023315 PMID:10486322 PMID:10617920 PMID:10671068 PMID:10673998 PMID:10882758 PMID:10966849 PMID:10991691 PMID:11189328 PMID:11317357 PMID:11317369 PMID:11333669 PMID:11480772 PMID:11668642 PMID:12016586 PMID:12173465 PMID:12402348 PMID:12502741 PMID:12541220 PMID:12955724 PMID:14516425 PMID:14722923 PMID:14769601 PMID:15166261 PMID:15591264 PMID:15605413 PMID:15643604 PMID:15776430 PMID:15884040 PMID:16127685 PMID:16199547 PMID:16269091 PMID:16343894 PMID:16449662 PMID:16463005 PMID:16595082 PMID:16988938 PMID:17096365 PMID:17299438 PMID:17576681 PMID:17960112 PMID:17996702 PMID:18000883 PMID:18181215 PMID:18449911 PMID:18503160 PMID:18677112 PMID:18682685 PMID:19280657 PMID:19339519 PMID:19390654 PMID:19491728 PMID:19763152 PMID:20041224 PMID:20059380 PMID:20090211 PMID:20307669 PMID:20447117 PMID:20594292 PMID:20596833 PMID:20808897 PMID:21402997 PMID:21505449 PMID:21520333 PMID:21538077 PMID:21615945 PMID:21654082 PMID:21763628 PMID:22084214 PMID:22180099 PMID:22205104 PMID:22219649 PMID:22328814 PMID:22406018 PMID:22703879 PMID:22744425 PMID:22909775 PMID:22963398 PMID:23301675 PMID:23474753 PMID:23532519 PMID:23595191 PMID:23820649 PMID:23981928 PMID:24033266 PMID:24078560 PMID:24082139 PMID:24225018 PMID:24282159 PMID:24336570 PMID:24347427 PMID:24448499 PMID:24509483 PMID:24688104 PMID:24728327 PMID:24791139 PMID:24810223 PMID:24888624 PMID:25157968 PMID:25424699 PMID:25525159 PMID:25602518 PMID:25640679 PMID:25712084 PMID:25741868 PMID:25754945 PMID:25758528 PMID:25928201 PMID:25999316 PMID:26084579 PMID:26332594 PMID:26396485 PMID:26530098 PMID:26539030 PMID:26580448 PMID:26747767 PMID:26764160 PMID:26787237 PMID:26925970 PMID:26934580 PMID:27021801 PMID:27153395 PMID:27155049 PMID:27283993 PMID:27582626 PMID:27854218 PMID:27879208 PMID:27906792 PMID:27983729 PMID:28193182 PMID:28301456 PMID:28401291 PMID:28492532 PMID:28575107 PMID:28580595 PMID:28606269 PMID:28724667 PMID:28803391 PMID:28873162 PMID:28875981 PMID:29192238 PMID:29261756 PMID:29316426 PMID:29453956 PMID:29568217 PMID:29607586 PMID:29625052 PMID:29641532 PMID:29662154 PMID:29684080 PMID:30031154 PMID:30181556 PMID:30636860 PMID:30773851 PMID:30842500 PMID:31106028 PMID:31158355 PMID:31568710 PMID:31645765 PMID:31772335 PMID:32091409 PMID:32218800 PMID:32835838 PMID:32974172 PMID:33225895 PMID:33258708 PMID:33456302 PMID:33493472 PMID:33606809 PMID:34190019 PMID:34277001 PMID:34294096 PMID:34308366 PMID:34645364 PMID:34680218 PMID:35534704 PMID:12402348 More...
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RGD:8547986 |
NCBI chr13:48,303,751...48,481,890
Ensembl chr13:48,303,744...48,599,436
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G |
RB1-DT |
RB1 divergent transcript |
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IAGP |
ClinVar Annotator: match by term: Retinoblastoma ClinVar Annotator: match by term: Eye cancer, retinoblastoma |
ClinVar |
PMID:1881452 PMID:8049153 PMID:12541220 PMID:25741868 PMID:28492532 PMID:28873162 PMID:33258708 More...
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NCBI chr13:48,296,513...48,303,702
Ensembl chr13:48,296,162...48,303,720
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G |
SERPINF1 |
serpin family F member 1 |
treatment |
IDA |
human protein and tumor xenograft in a mouse model |
RGD |
PMID:19832843 |
RGD:8554870 |
NCBI chr17:1,762,060...1,777,565
Ensembl chr17:1,762,029...1,777,565
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G |
SNCG |
synuclein gamma |
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IEP |
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RGD |
PMID:18728752 |
RGD:6218971 |
NCBI chr10:86,955,759...86,963,258
Ensembl chr10:86,958,599...86,963,258
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G |
CACNA1A |
calcium voltage-gated channel subunit alpha1 A |
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IAGP |
ClinVar Annotator: match by term: Subependymal giant-cell astrocytoma |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr19:13,206,442...13,506,479
Ensembl chr19:13,206,442...13,633,025
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G |
RB1 |
RB transcriptional corepressor 1 |
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IAGP |
ClinVar Annotator: match by term: Trilateral retinoblastoma |
ClinVar |
PMID:7704558 PMID:8346255 PMID:8605116 PMID:9400934 PMID:16463005 PMID:17096365 PMID:21763628 PMID:22963398 PMID:24688104 PMID:25157968 PMID:25602518 PMID:25741868 PMID:28492532 PMID:30031154 PMID:33456302 More...
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NCBI chr13:48,303,751...48,481,890
Ensembl chr13:48,303,744...48,599,436
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