RGD DISEASE ONTOLOGY - ANNOTATIONS |
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RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
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Term: | nervous system cancer |
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Accession: | DOID:3093
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browse the term
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Definition: | An organ system cancer located_in the nervous system that affects the central or peripheral nervous system. (DO) |
Synonyms: | exact_synonym: | malignant neoplasm of nervous system |
| xref: | ICD9CM:192.9; NCI:C35562 |
For additional species annotation, visit the
Alliance of Genome Resources.
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Artn |
artemin |
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ISO |
mRNA:increased expression:peripheral nerve: |
RGD |
PMID:19937367 |
RGD:8655552 |
NCBI chr 5:131,458,596...131,470,193
Ensembl chr 5:131,464,756...131,468,025
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Bdnf |
brain-derived neurotrophic factor |
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ISO |
mRNA:increased expression:peripheral nerve: |
RGD |
PMID:19937367 |
RGD:8655552 |
NCBI chr 3:96,165,042...96,215,621
Ensembl chr 3:96,165,042...96,215,615
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Cav1 |
caveolin 1 |
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ISO |
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RGD |
PMID:20881564 |
RGD:8661782 |
NCBI chr 4:45,640,624...45,673,708
Ensembl chr 4:45,634,918...45,673,705
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Cdkn1a |
cyclin-dependent kinase inhibitor 1A |
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ISO |
mRNA,protein:decreased expression:myelinated nerve: |
RGD |
PMID:20600642 |
RGD:8661792 |
NCBI chr20:7,149,177...7,159,727
Ensembl chr20:7,149,217...7,159,585
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Cyp2e1 |
cytochrome P450, family 2, subfamily e, polypeptide 1 |
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ISO |
DNA:snp:promoter:c.-1053C>T (human) |
RGD |
PMID:12540498 |
RGD:1358568 |
NCBI chr 1:195,840,330...195,850,728
Ensembl chr 1:195,840,058...195,864,023
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Ercc2 |
ERCC excision repair 2, TFIIH core complex helicase subunit |
susceptibility |
ISO |
DNA:missense mutation:cds:p.D312N (rs1799793) (human) |
RGD |
PMID:20150366 |
RGD:5688735 |
NCBI chr 1:79,033,342...79,047,102
Ensembl chr 1:79,033,326...79,047,102
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Fgfr1 |
Fibroblast growth factor receptor 1 |
disease_progression |
ISO |
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RGD |
PMID:15354013 |
RGD:11567268 |
NCBI chr16:66,492,445...66,546,731
Ensembl chr16:66,494,042...66,547,350
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Gdnf |
glial cell derived neurotrophic factor |
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ISO |
mRNA:increased expression:peripheral nerve: |
RGD |
PMID:19937367 |
RGD:8655552 |
NCBI chr 2:56,893,992...56,919,935
Ensembl chr 2:56,895,010...56,917,209
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Igf1 |
insulin-like growth factor 1 |
susceptibility |
ISO |
protein:increased expression:serum: |
RGD |
PMID:21788435 |
RGD:8548833 |
NCBI chr 7:22,282,895...22,361,972
Ensembl chr 7:22,282,930...22,359,296
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Igfbp3 |
insulin-like growth factor binding protein 3 |
susceptibility |
ISO |
protein:increased expression:serum: |
RGD |
PMID:21788435 |
RGD:8548833 |
NCBI chr14:82,056,347...82,064,083
Ensembl chr14:82,056,347...82,064,083
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Nf2 |
NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor |
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ISO |
protein:decreased expression:myelinated nerve: |
RGD |
PMID:20600642 |
RGD:8661792 |
NCBI chr14:79,627,399...79,710,709
Ensembl chr14:79,627,399...79,710,667
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Vegfa |
vascular endothelial growth factor A |
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ISO |
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RGD |
PMID:14660915 |
RGD:8547959 |
NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641
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Aip |
aryl-hydrocarbon receptor-interacting protein |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: PITUITARY ADENOMA 4, ACTH-SECRETING |
CTD ClinVar |
PMID:17360484 PMID:18381572 PMID:19366855 PMID:20506337 PMID:20530095 PMID:21454441 PMID:21753072 PMID:22319033 PMID:22720333 PMID:23300914 PMID:23321498 PMID:23633209 PMID:24033266 PMID:25093619 PMID:25184284 PMID:25203624 PMID:25333069 PMID:25741868 PMID:27153395 PMID:28492532 PMID:29074612 PMID:30461320 PMID:32324286 More...
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NCBI chr 1:201,407,287...201,419,220
Ensembl chr 1:201,407,288...201,419,122
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Avpr1b |
arginine vasopressin receptor 1B |
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ISO |
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RGD |
PMID:23884782 |
RGD:14700670 |
NCBI chr13:43,046,960...43,057,110
Ensembl chr13:43,046,267...43,057,792
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Bmp4 |
bone morphogenetic protein 4 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16195406 |
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NCBI chr15:19,618,538...19,633,494
Ensembl chr15:19,618,542...19,623,306
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Usp8 |
ubiquitin specific peptidase 8 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD OMIM |
PMID:25485838 |
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NCBI chr 3:113,962,136...114,009,683
Ensembl chr 3:113,962,164...114,009,666
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Mmp1 |
matrix metallopeptidase 1 |
susceptibility |
ISO |
DNA:insertion:promoter:g.-1607insG (human) |
RGD |
PMID:17502998 |
RGD:7207034 |
NCBI chr 8:4,658,588...4,679,099
Ensembl chr 8:4,658,588...4,679,097
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Mki67 |
marker of proliferation Ki-67 |
severity |
ISO |
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RGD |
PMID:21696422 |
RGD:6483520 |
NCBI chr 1:190,496,319...190,522,983
Ensembl chr 1:190,496,319...190,522,762
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Chd6 |
chromodomain helicase DNA binding protein 6 |
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ISO |
ClinVar Annotator: match by term: Adult spinal cord ependymoma |
ClinVar |
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NCBI chr 3:149,596,509...149,757,765
Ensembl chr 3:149,596,509...149,757,755
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Ifnb1 |
interferon beta 1 |
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ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:15990972 |
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NCBI chr 5:103,020,969...103,021,523
Ensembl chr 5:103,020,969...103,021,523
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Atrx |
ATRX, chromatin remodeler |
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ISO |
ClinVar Annotator: match by term: Astrocytoma, anaplastic |
ClinVar |
PMID:7697714 PMID:8968741 PMID:18414213 PMID:22995991 PMID:24082139 PMID:24728327 PMID:25741868 PMID:26467025 PMID:28293299 PMID:28492530 PMID:28492532 PMID:29304373 PMID:29602769 PMID:29910053 More...
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NCBI chr X:70,850,981...70,997,330
Ensembl chr X:70,850,981...70,997,330
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Kras |
KRAS proto-oncogene, GTPase |
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ISO |
mRNA:decreased expression:brain |
RGD |
PMID:19179066 |
RGD:13702872 |
NCBI chr 4:178,185,418...178,218,484
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Tp53 |
tumor protein p53 |
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ISO |
ClinVar Annotator: match by term: Astrocytoma, anaplastic |
ClinVar |
PMID:1349175 PMID:1565143 PMID:1565144 PMID:1591732 PMID:7565304 PMID:7783166 PMID:8401536 PMID:8550239 PMID:8718514 PMID:8829627 PMID:9218725 PMID:9242456 PMID:9364015 PMID:9667734 PMID:10519380 PMID:10922393 PMID:11370630 PMID:12826609 PMID:12885464 PMID:12917626 PMID:15722483 PMID:15925506 PMID:15951970 PMID:16401470 PMID:16494995 PMID:16551709 PMID:17015838 PMID:17311302 PMID:17606709 PMID:18511570 PMID:19012332 PMID:19468865 PMID:20128691 PMID:20522432 PMID:21059199 PMID:21305319 PMID:21343334 PMID:21761402 PMID:22672556 PMID:23161690 PMID:23538418 PMID:24033266 PMID:24122735 PMID:24573247 PMID:24835218 PMID:25157968 PMID:25584008 PMID:25619955 PMID:25741868 PMID:26014290 PMID:26205489 PMID:26225655 PMID:26619011 PMID:26786923 PMID:26845104 PMID:26878390 PMID:26911350 PMID:27077130 PMID:27621308 PMID:28472496 PMID:28492532 PMID:28975465 PMID:29581140 PMID:29979965 PMID:30224644 PMID:30816478 PMID:32000721 More...
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NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
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Palb2 |
partner and localizer of BRCA2 |
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ISO |
ClinVar Annotator: match by term: Anaplastic ependymoma |
ClinVar |
PMID:21285249 PMID:25741868 PMID:26315354 PMID:26467025 PMID:26580448 PMID:26689913 PMID:27616075 PMID:28492532 PMID:28678401 PMID:31636395 More...
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NCBI chr 1:176,665,076...176,689,053
Ensembl chr 1:176,665,076...176,688,990
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Rnf213 |
ring finger protein 213 |
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ISO |
ClinVar Annotator: match by term: Anaplastic ependymoma |
ClinVar |
PMID:26822237 |
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NCBI chr10:104,656,329...104,755,669
Ensembl chr10:104,656,883...104,757,918
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Runx1 |
RUNX family transcription factor 1 |
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ISO |
ClinVar Annotator: match by term: Anaplastic ependymoma |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr11:31,839,880...32,074,427
Ensembl chr11:31,843,764...32,074,542
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Cic |
capicua transcriptional repressor |
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ISO |
ClinVar Annotator: match by term: Anaplastic oligodendroglioma |
ClinVar |
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NCBI chr 1:80,853,920...80,880,537
Ensembl chr 1:80,853,920...80,880,532
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Mir542 |
microRNA 542 |
disease_progression |
ISO |
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RGD |
PMID:26286747 |
RGD:13782052 |
NCBI chr X:132,802,623...132,802,701
Ensembl chr X:132,802,623...132,802,701
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Pik3r1 |
phosphoinositide-3-kinase regulatory subunit 1 |
severity |
ISO |
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RGD |
PMID:26956052 PMID:26286747 |
RGD:11343921, RGD:13782052 |
NCBI chr 2:32,878,942...32,963,611
Ensembl chr 2:32,882,032...32,963,631
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Atrx |
ATRX, chromatin remodeler |
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ISO |
ClinVar Annotator: match by term: Atypical teratoid/rhabdoid tumor |
ClinVar |
PMID:7697714 PMID:8968741 PMID:18414213 PMID:22995991 PMID:24082139 PMID:24728327 PMID:25741868 PMID:26467025 PMID:28293299 PMID:28492530 PMID:28492532 PMID:29304373 PMID:29602769 PMID:29910053 More...
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NCBI chr X:70,850,981...70,997,330
Ensembl chr X:70,850,981...70,997,330
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Derl3 |
derlin 3 |
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ISO |
ClinVar Annotator: match by term: Rhabdoid tumor predisposition syndrome 1 |
ClinVar |
PMID:28492532 |
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NCBI chr20:12,754,490...12,768,454
Ensembl chr20:12,763,543...12,767,027
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Smarcb1 |
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 |
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ISO |
ClinVar Annotator: match by term: Malignant rhabdoid tumor, somatic | ClinVar Annotator: match by term: Rhabdoid tumor predisposition syndrome | ClinVar Annotator: match by term: Rhabdoid tumor predisposition syndrome 1 | ClinVar Annotator: match by term: Teratoid tumor, atypical |
OMIM ClinVar |
PMID:9536098 PMID:9671307 PMID:10521299 PMID:10739763 PMID:12226744 PMID:16199547 PMID:17576681 PMID:18414213 PMID:18647326 PMID:19124645 PMID:21208904 PMID:23510391 PMID:24123847 PMID:24728327 PMID:24933152 PMID:25741868 PMID:28492532 PMID:28873162 More...
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NCBI chr20:12,741,164...12,763,616
Ensembl chr20:12,741,477...12,763,620
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Tp53 |
tumor protein p53 |
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ISO |
ClinVar Annotator: match by term: Atypical teratoid/rhabdoid tumor |
ClinVar |
PMID:1565143 PMID:1591732 PMID:7565304 PMID:7783166 PMID:8550239 PMID:8718514 PMID:9218725 PMID:9242456 PMID:9364015 PMID:9667734 PMID:10519380 PMID:10922393 PMID:11370630 PMID:12826609 PMID:12885464 PMID:12917626 PMID:15722483 PMID:15925506 PMID:15951970 PMID:16401470 PMID:16494995 PMID:16551709 PMID:17015838 PMID:17311302 PMID:17606709 PMID:18511570 PMID:20128691 PMID:20522432 PMID:21343334 PMID:21761402 PMID:23538418 PMID:24033266 PMID:24122735 PMID:24835218 PMID:25157968 PMID:25741868 PMID:26205489 PMID:26225655 PMID:26619011 PMID:26786923 PMID:27621308 PMID:28492532 PMID:30816478 PMID:32000721 More...
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NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
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Atm |
ATM serine/threonine kinase |
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ISO |
ClinVar Annotator: match by term: Brain cancer |
ClinVar |
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NCBI chr 8:53,828,741...53,932,773
Ensembl chr 8:53,831,093...53,932,437
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Hnrnpl |
heterogeneous nuclear ribonucleoprotein L |
susceptibility |
ISO |
associated with Precursor Cell Lymphoblastic Leukemia-Lymphoma;mRNA:decreased expression:bone marrow (human) |
RGD |
PMID:15543619 |
RGD:10002773 |
NCBI chr 1:84,098,558...84,111,568
Ensembl chr 1:84,100,879...84,111,553
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Stk11 |
serine/threonine kinase 11 |
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ISO |
ClinVar Annotator: match by term: Brain cancer |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 7:9,574,553...9,591,315
Ensembl chr 7:9,575,269...9,591,315
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Tert |
telomerase reverse transcriptase |
ameliorates |
ISO |
DNA:SNP:cds:rs2736100 (human) |
RGD |
PMID:26014354 |
RGD:152985535 |
NCBI chr 1:29,637,213...29,659,509
Ensembl chr 1:29,637,506...29,659,561
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Mir139 |
microRNA 139 |
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ISO |
RNA:decreased expression:brain: |
RGD |
PMID:26449464 |
RGD:13838722 |
NCBI chr 1:155,878,828...155,878,895
Ensembl chr 1:155,878,825...155,878,902
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Ncam1 |
neural cell adhesion molecule 1 |
disease_progression |
ISO |
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RGD |
PMID:20219118 |
RGD:40924672 |
NCBI chr 8:49,865,629...50,165,687
Ensembl chr 8:49,865,633...50,166,014
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Sufu |
SUFU negative regulator of hedgehog signaling |
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IEP |
human, rat, and/or mouse glioma cells in a mouse model |
RGD |
PMID:30790292 |
RGD:150573813 |
NCBI chr 1:245,257,725...245,355,576
Ensembl chr 1:245,257,768...245,355,577
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Adam3a |
ADAM metallopeptidase domain 3A |
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ISO |
DNA:deletion |
RGD |
PMID:21138945 |
RGD:13831351 |
NCBI chr16:67,299,949...67,349,970
Ensembl chr16:67,299,949...67,349,968
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Bax |
BCL2 associated X, apoptosis regulator |
treatment |
IEP IDA |
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RGD |
PMID:27255231 PMID:29324390 |
RGD:13792502, RGD:13792598 |
NCBI chr 1:95,940,001...95,945,407
Ensembl chr 1:95,938,808...95,945,368
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Bcl2 |
BCL2, apoptosis regulator |
treatment |
IEP IDA |
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RGD |
PMID:27255231 PMID:29324390 |
RGD:13792502, RGD:13792598 |
NCBI chr13:22,689,783...22,853,920
Ensembl chr13:22,684,989...22,853,743 Ensembl chr13:22,684,989...22,853,743
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Bst2 |
bone marrow stromal cell antigen 2 |
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ISO |
mRNA,protein:increased expression:brain: |
RGD |
PMID:21565182 |
RGD:14398497 |
NCBI chr16:18,217,404...18,220,979
Ensembl chr16:18,217,407...18,220,979
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Casp3 |
caspase 3 |
treatment |
IDA |
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RGD |
PMID:29324390 |
RGD:13792598 |
NCBI chr16:45,662,910...45,681,171
Ensembl chr16:45,662,910...45,684,648
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Fadd |
Fas associated via death domain |
treatment |
IEP |
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RGD |
PMID:27255231 |
RGD:13792502 |
NCBI chr 1:199,743,200...199,745,746
Ensembl chr 1:199,739,994...199,745,653
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Fas |
Fas cell surface death receptor |
treatment |
IDA |
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RGD |
PMID:29324390 |
RGD:13792598 |
NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591
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Faslg |
Fas ligand |
treatment |
IDA |
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RGD |
PMID:29324390 |
RGD:13792598 |
NCBI chr13:74,151,519...74,172,760
Ensembl chr13:74,154,954...74,162,215
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Foxa1 |
forkhead box A1 |
disease_progression |
ISO |
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RGD |
PMID:23510544 |
RGD:151665742 |
NCBI chr 6:75,099,907...75,136,534
Ensembl chr 6:75,103,503...75,136,188
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Gapdh |
glyceraldehyde-3-phosphate dehydrogenase |
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IEP |
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RGD |
PMID:26032618 |
RGD:13792685 |
NCBI chr 4:157,962,312...157,967,158
Ensembl chr 4:157,962,343...157,966,235
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Kdr |
kinase insert domain receptor |
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ISO |
protein:increased expression:brain (human) |
RGD |
PMID:33900414 |
RGD:151660356 |
NCBI chr14:32,217,871...32,261,018
Ensembl chr14:32,217,871...32,261,018
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Ptprb |
protein tyrosine phosphatase, receptor type, B |
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ISO |
protein:increased expression:brain (human) human cell in mouse model |
RGD |
PMID:33900414 PMID:16923162 |
RGD:151660356, RGD:151660368 |
NCBI chr 7:51,953,375...52,034,751
Ensembl chr 7:51,930,015...52,034,748
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Vegfa |
vascular endothelial growth factor A |
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ISO |
protein:increased expression:brain (human) |
RGD |
PMID:33900414 |
RGD:151660356 |
NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641
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Pax3 |
paired box 3 |
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ISO |
mRNA,protein:increased expression:brain stem: |
RGD |
PMID:25330836 |
RGD:13702891 |
NCBI chr 9:79,567,455...79,664,042
Ensembl chr 9:79,568,634...79,664,042
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Pdgfra |
platelet derived growth factor receptor alpha |
severity |
ISO |
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RGD |
PMID:20197468 |
RGD:13702892 |
NCBI chr14:33,005,838...33,054,347
Ensembl chr14:33,005,839...33,054,335
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Alb |
albumin |
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ISO |
protein:decreased expression:serum: |
RGD |
PMID:975003 |
RGD:11036087 |
NCBI chr14:17,607,397...17,622,814
Ensembl chr14:17,607,381...17,622,836
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Eno2 |
enolase 2 |
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ISO |
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RGD |
PMID:17345775 |
RGD:2293739 |
NCBI chr 4:157,572,085...157,580,971
Ensembl chr 4:157,572,088...157,580,980
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Men1 |
menin 1 |
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ISO |
DNA:loss of heterozygosity:lung:PYGM,D11S449,D11S906(human) |
RGD |
PMID:16465412 |
RGD:2317351 |
NCBI chr 1:203,638,905...203,644,871
Ensembl chr 1:203,639,000...203,644,871
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Mgmt |
O-6-methylguanine-DNA methyltransferase |
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ISO |
DNA:hypermethylation:promoter (human) |
RGD |
PMID:12584572 |
RGD:2317635 |
NCBI chr 1:191,710,980...191,937,760
Ensembl chr 1:191,710,930...191,937,756
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Mir10a |
microRNA 10a |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25105010 |
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NCBI chr10:81,283,171...81,283,280
Ensembl chr10:81,283,171...81,283,280
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Mir127 |
microRNA 127 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25105010 |
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NCBI chr 6:128,546,215...128,546,311
Ensembl chr 6:128,546,215...128,546,311
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Mir136 |
microRNA 136 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25105010 |
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NCBI chr 6:128,549,096...128,549,177
Ensembl chr 6:128,549,096...128,549,177
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Mir146a |
microRNA 146a |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25105010 |
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NCBI chr10:27,848,516...27,848,610
Ensembl chr10:27,848,516...27,848,610
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G |
Mir154 |
microRNA 154 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25105010 |
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NCBI chr 6:128,752,947...128,753,030
Ensembl chr 6:128,752,947...128,753,030
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G |
Mir155 |
microRNA 155 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25105010 |
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NCBI chr11:23,774,654...23,774,718
Ensembl chr11:23,774,654...23,774,718
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G |
Mir193a |
microRNA 193a |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25105010 |
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NCBI chr10:64,672,343...64,672,454
Ensembl chr10:64,672,343...64,672,454
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G |
Mir222 |
microRNA 222 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25105010 |
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NCBI chr X:3,428,904...3,429,006
Ensembl chr X:3,428,904...3,429,006
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G |
Mir224 |
microRNA 224 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25105010 |
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NCBI chr X:150,065,088...150,065,169
Ensembl chr X:150,065,088...150,065,169
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G |
Mir30a |
microRNA 30a |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25105010 |
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NCBI chr 9:25,737,600...25,737,670
Ensembl chr 9:25,737,600...25,737,670
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G |
Mir34b |
microRNA 34b |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25105010 |
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NCBI chr 8:51,410,244...51,410,327
Ensembl chr 8:51,410,244...51,410,327
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G |
Mir34c |
microRNA 34c |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25105010 |
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NCBI chr 8:51,409,726...51,409,802
Ensembl chr 8:51,409,726...51,409,802
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G |
Mir370 |
microRNA 370 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25105010 |
|
NCBI chr 6:128,572,257...128,572,335
Ensembl chr 6:128,572,257...128,572,335
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G |
Mir409 |
microRNA 409 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25105010 |
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NCBI chr 6:128,757,780...128,757,856
Ensembl chr 6:128,757,779...128,757,858
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G |
Mir410 |
microRNA 410 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25105010 |
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NCBI chr 6:128,758,358...128,758,433
Ensembl chr 6:128,758,354...128,758,434
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G |
Mir487b |
microRNA 487b |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25105010 |
|
NCBI chr 6:128,741,485...128,741,566
Ensembl chr 6:128,741,485...128,741,566
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G |
Mir494 |
microRNA 494 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25105010 |
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NCBI chr 6:128,728,710...128,728,792
Ensembl chr 6:128,728,709...128,728,793
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G |
Reg1a |
regenerating family member 1 alpha |
|
ISO |
associated with Hypergastrinemia;DNA:missense mutations:cds:multiple (human) |
RGD |
PMID:10348814 |
RGD:9850135 |
NCBI chr 4:110,892,451...110,895,115
Ensembl chr 4:110,892,453...110,895,570
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G |
Dhfr |
dihydrofolate reductase |
|
ISO |
ClinVar Annotator: match by term: Cavernous sinus meningioma |
ClinVar |
PMID:26467025 PMID:31371350 PMID:31627758 |
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NCBI chr 2:23,585,876...23,611,199
Ensembl chr 2:23,586,031...23,613,713
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G |
Kmt2d |
lysine methyltransferase 2D |
|
ISO |
ClinVar Annotator: match by term: Cavernous sinus meningioma |
ClinVar |
PMID:28492532 |
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NCBI chr 7:129,980,744...130,022,088
Ensembl chr 7:129,962,887...130,020,325
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G |
Msh3 |
mutS homolog 3 |
|
ISO |
ClinVar Annotator: match by term: Cavernous sinus meningioma |
ClinVar |
PMID:26467025 PMID:31371350 PMID:31627758 |
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NCBI chr 2:23,444,326...23,585,777
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Btk |
Bruton tyrosine kinase |
ameliorates |
ISO |
|
RGD |
PMID:28552327 |
RGD:124715478 |
NCBI chr X:97,722,796...97,762,315
Ensembl chr X:97,722,802...97,761,853
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G |
Cd79b |
CD79b molecule |
treatment |
ISO |
|
RGD |
PMID:28619981 |
RGD:151665208 |
NCBI chr10:91,239,354...91,242,500
Ensembl chr10:91,239,356...91,242,625
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G |
Il10 |
interleukin 10 |
|
ISO |
DNA:SNP:promoter:-1082G>A (human) |
RGD |
PMID:22628023 |
RGD:7364831 |
NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
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G |
Myd88 |
MYD88, innate immune signal transduction adaptor |
treatment |
ISO |
|
RGD |
PMID:28619981 |
RGD:151665208 |
NCBI chr 8:119,074,439...119,078,508
Ensembl chr 8:119,074,437...119,079,415
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G |
Vhl |
von Hippel-Lindau tumor suppressor |
|
ISO |
ClinVar Annotator: match by term: Cerebellar hemangioblastoma |
ClinVar |
PMID:7728151 PMID:7987306 PMID:10567493 PMID:12114495 PMID:15611064 PMID:22799452 PMID:23384228 PMID:25741868 PMID:28492532 More...
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NCBI chr 4:146,772,483...146,779,376
Ensembl chr 4:146,772,468...146,779,377
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G |
Msh6 |
mutS homolog 6 |
|
ISO |
ClinVar Annotator: match by term: Cerebellar medulloblastoma |
ClinVar |
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NCBI chr 6:6,562,631...6,579,995
Ensembl chr 6:6,562,632...6,579,956
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G |
Rtel1 |
regulator of telomere elongation helicase 1 |
ameliorates susceptibility |
ISO |
DNA:SNP:cds:rs6089953|rs6010620|rs2297440 (human) DNA:SNP:cds:rs4809324 (human) |
RGD |
PMID:26014354 PMID:26014354 |
RGD:152985535, RGD:152985535 |
NCBI chr 3:168,427,247...168,465,349
Ensembl chr 3:168,419,579...168,465,348
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G |
Mapk1 |
mitogen activated protein kinase 1 |
|
ISO |
protein:increased expression:brain: |
RGD |
PMID:21466243 |
RGD:13702864 |
NCBI chr11:83,957,813...84,023,629
Ensembl chr11:83,957,813...84,023,616
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G |
Foxo3 |
forkhead box O3 |
|
ISO |
ClinVar Annotator: match by term: Choroid plexus carcinoma |
ClinVar |
PMID:26822237 |
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NCBI chr20:45,669,708...45,764,606
Ensembl chr20:45,672,995...45,764,561
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G |
Nf2 |
NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor |
|
ISO |
ClinVar Annotator: match by term: Choroid plexus carcinoma |
ClinVar |
PMID:26822237 |
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NCBI chr14:79,627,399...79,710,709
Ensembl chr14:79,627,399...79,710,667
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G |
Nsd1 |
nuclear receptor binding SET domain protein 1 |
|
ISO |
ClinVar Annotator: match by term: Choroid plexus carcinoma |
ClinVar |
PMID:26822237 |
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NCBI chr17:9,311,963...9,426,373
Ensembl chr17:9,315,237...9,425,358
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G |
Tp53 |
tumor protein p53 |
|
ISO |
ClinVar Annotator: match by term: Choroid plexus carcinoma |
ClinVar |
PMID:1631137 PMID:1978757 PMID:8099841 PMID:8425176 PMID:8527048 PMID:9242456 PMID:9598730 PMID:9825943 PMID:11051239 PMID:12826609 PMID:16489069 PMID:17417627 PMID:17427234 PMID:17606709 PMID:18762572 PMID:19378321 PMID:20013323 PMID:20128691 PMID:20522432 PMID:21343334 PMID:22265402 PMID:22713868 PMID:23172776 PMID:23667202 PMID:23950206 PMID:24033266 PMID:24038938 PMID:24573247 PMID:24603336 PMID:24651015 PMID:25157968 PMID:25741868 PMID:25925845 PMID:26467025 PMID:26619011 PMID:26787237 PMID:27374712 PMID:28472496 PMID:28492532 PMID:28724667 PMID:29025599 PMID:29979965 PMID:30224644 PMID:31775759 More...
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NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
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G |
Acod1 |
aconitate decarboxylase 1 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:79,871,819...79,881,101
Ensembl chr15:79,871,827...79,880,529
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G |
Alg11 |
ALG11, alpha-1,2-mannosyltransferase |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
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NCBI chr16:69,940,540...69,951,617
Ensembl chr16:69,944,349...69,951,601
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G |
Arl11 |
ADP-ribosylation factor like GTPase 11 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
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NCBI chr15:35,483,330...35,485,579
Ensembl chr15:35,480,018...35,496,596
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G |
Atp7b |
ATPase copper transporting beta |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
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NCBI chr16:69,952,286...70,024,404
Ensembl chr16:69,951,778...70,023,636
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G |
Bora |
bora, aurora kinase A activator |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
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NCBI chr15:75,797,624...75,835,599
Ensembl chr15:75,797,891...75,821,322
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G |
Cab39l |
calcium binding protein 39-like |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
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NCBI chr15:33,606,588...33,710,518
Ensembl chr15:33,606,694...33,743,545
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G |
Ccdc70 |
coiled-coil domain containing 70 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
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NCBI chr16:70,037,309...70,042,401
Ensembl chr16:70,037,309...70,042,339
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G |
Cdadc1 |
cytidine and dCMP deaminase domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
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NCBI chr15:33,726,590...33,755,611
Ensembl chr15:33,723,435...33,755,576
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G |
Ckap2 |
cytoskeleton associated protein 2 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
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NCBI chr16:69,839,668...69,864,852
Ensembl chr16:69,839,630...69,864,913
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G |
Cln5 |
CLN5, intracellular trafficking protein |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
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NCBI chr15:79,893,573...79,903,438
Ensembl chr15:79,893,548...79,903,438
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G |
Cnmd |
chondromodulin |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
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NCBI chr15:55,041,548...55,066,297
Ensembl chr15:55,041,561...55,066,297
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G |
Commd6 |
COMM domain containing 6 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:78,467,333...78,474,382
Ensembl chr15:78,467,804...78,474,382
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G |
Cysltr2 |
cysteinyl leukotriene receptor 2 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
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NCBI chr15:48,190,251...48,229,906
Ensembl chr15:48,189,073...48,304,136
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G |
Dach1 |
dachshund family transcription factor 1 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
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NCBI chr15:74,528,122...74,909,811
Ensembl chr15:74,529,208...74,909,922
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G |
Diaph3 |
diaphanous-related formin 3 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
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NCBI chr15:62,543,375...63,013,060
Ensembl chr15:62,543,375...63,012,975
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G |
Dis3 |
DIS3 homolog, exosome endoribonuclease and 3'-5' exoribonuclease |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
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NCBI chr15:75,820,040...75,850,450
Ensembl chr15:75,823,436...75,850,642
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G |
Dleu7 |
deleted in lymphocytic leukemia, 7 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
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NCBI chr15:36,479,535...36,496,069
Ensembl chr15:36,479,534...36,495,697
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G |
Ebpl |
EBP like |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
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NCBI chr15:35,508,074...35,531,472
Ensembl chr15:35,508,074...35,531,472
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G |
Ednrb |
endothelin receptor type B |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
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NCBI chr15:80,640,839...80,672,115
Ensembl chr15:80,643,043...80,672,115
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G |
Fam124a |
family with sequence similarity 124 member A |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
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NCBI chr15:36,799,836...36,855,062
Ensembl chr15:36,799,877...36,853,683
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G |
Fbxl3 |
F-box and leucine-rich repeat protein 3 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
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NCBI chr15:79,906,795...79,926,678
Ensembl chr15:79,906,795...79,927,867
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G |
Fndc3a |
fibronectin type III domain containing 3a |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
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NCBI chr15:47,689,909...47,867,354
Ensembl chr15:47,689,919...47,866,784
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G |
Ints6 |
integrator complex subunit 6 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
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NCBI chr15:36,908,966...37,048,043
Ensembl chr15:36,933,724...37,021,527
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G |
Itm2b |
integral membrane protein 2B |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
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NCBI chr15:48,545,998...48,568,904
Ensembl chr15:48,546,001...48,568,917
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G |
Kcnrg |
potassium channel regulator |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
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NCBI chr15:35,774,492...35,778,818
Ensembl chr15:35,774,326...35,779,415
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G |
Kctd12 |
potassium channel tetramerization domain containing 12 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
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NCBI chr15:79,800,077...79,806,064
Ensembl chr15:79,801,191...79,806,282
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G |
Klf12 |
Kruppel-like factor 12 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
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NCBI chr15:76,628,778...77,062,000
Ensembl chr15:76,637,654...77,062,056
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G |
Klf5 |
Kruppel-like factor 5 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
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NCBI chr15:76,060,320...76,079,445
Ensembl chr15:76,064,258...76,079,445
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G |
Klhl1 |
kelch-like family member 1 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
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NCBI chr15:72,698,188...73,142,707
Ensembl chr15:72,699,094...73,142,594
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G |
Kpna3 |
karyopherin subunit alpha 3 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
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NCBI chr15:35,536,310...35,610,066
Ensembl chr15:35,536,316...35,610,419
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G |
Lmo7 |
LIM domain 7 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
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NCBI chr15:78,567,029...78,769,833
Ensembl chr15:78,567,023...78,769,783
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G |
LOC102554746 |
uncharacterized LOC102554746 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
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NCBI chr15:36,674,840...36,701,304
Ensembl chr15:36,677,527...36,701,211
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G |
Lpar6 |
lysophosphatidic acid receptor 6 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
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NCBI chr15:48,416,548...48,418,357
Ensembl chr15:48,416,544...48,422,331
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G |
Med4 |
mediator complex subunit 4 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
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NCBI chr15:48,696,542...48,706,818
Ensembl chr15:48,696,511...48,706,820
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G |
Mycbp2 |
MYC binding protein 2 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
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NCBI chr15:79,937,354...80,175,432
Ensembl chr15:79,937,354...80,175,498
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G |
Mzt1 |
mitotic spindle organizing protein 1 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
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NCBI chr15:75,786,992...75,797,631
Ensembl chr15:75,786,994...75,797,589
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G |
Ndfip2 |
Nedd4 family interacting protein 2 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
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NCBI chr15:82,032,366...82,087,043
Ensembl chr15:82,032,366...82,086,317
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G |
Nek3 |
NIMA-related kinase 3 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
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NCBI chr16:69,867,020...69,892,477
Ensembl chr16:69,867,047...69,892,508
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G |
Nek5 |
NIMA-related kinase 5 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
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NCBI chr16:69,895,414...69,938,668
Ensembl chr16:69,895,422...69,939,429
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G |
Nudt15 |
nudix hydrolase 15 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
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NCBI chr15:48,707,776...48,747,363
Ensembl chr15:48,709,700...48,747,363
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G |
Obi1 |
ORC ubiquitin ligase 1 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
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NCBI chr15:81,269,413...81,308,734
Ensembl chr15:81,269,416...81,308,734
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G |
Olfm4 |
olfactomedin 4 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
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NCBI chr15:55,385,100...55,429,687
Ensembl chr15:55,407,148...55,429,681
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G |
Pcdh17 |
protocadherin 17 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
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NCBI chr15:60,222,088...60,316,172
Ensembl chr15:60,222,004...60,313,999
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G |
Pcdh20 |
protocadherin 20 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
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NCBI chr15:64,425,534...64,431,790
Ensembl chr15:64,425,534...64,431,790
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G |
Pcdh8 |
protocadherin 8 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
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NCBI chr15:55,198,475...55,203,021
Ensembl chr15:55,198,459...55,205,872
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G |
Pcdh9 |
protocadherin 9 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:69,340,108...70,237,531
Ensembl chr15:69,340,645...70,237,538
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Phf11 |
PHD finger protein 11 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:33,390,290...33,414,647
Ensembl chr15:33,390,292...33,413,009
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Pibf1 |
progesterone immunomodulatory binding factor 1 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:75,850,389...76,019,711
Ensembl chr15:75,850,624...76,019,712
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Pou4f1 |
POU class 4 homeobox 1 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:81,255,566...81,260,057
Ensembl chr15:81,257,781...81,259,728
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Prr20e |
proline rich 20E |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr 4:121,566,632...121,574,734
Ensembl chr 4:121,571,797...121,573,140
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Rb1 |
RB transcriptional corepressor 1 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:48,371,295...48,502,473
Ensembl chr15:48,371,296...48,502,302
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Rbm26 |
RNA binding motif protein 26 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:81,884,783...81,964,245
Ensembl chr15:81,887,219...81,964,118
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G |
Rcbtb1 |
RCC1 and BTB domain containing protein 1 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:33,319,586...33,362,421
Ensembl chr15:33,319,586...33,365,302
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G |
Rcbtb2 |
RCC1 and BTB domain containing protein 2 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:48,319,809...48,364,441
Ensembl chr15:48,323,866...48,383,750
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Rnaseh2b |
ribonuclease H2, subunit B |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:36,541,200...36,592,016
Ensembl chr15:36,541,218...36,584,118
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G |
Scel |
sciellin |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:80,339,661...80,456,546
Ensembl chr15:80,339,951...80,456,372
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G |
Serpine3 |
serpin family E member 3 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:36,908,816...36,931,825
Ensembl chr15:36,907,131...36,933,150
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Setdb2 |
SET domain bifurcated histone lysine methyltransferase 2 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:33,553,657...33,606,586
Ensembl chr15:33,453,952...33,606,470
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Slain1 |
SLAIN motif family, member 1 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:80,482,818...80,542,461
Ensembl chr15:80,482,367...80,542,350
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G |
Slitrk1 |
SLIT and NTRK-like family, member 1 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:85,723,252...85,727,290
Ensembl chr15:85,724,475...85,727,509
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Slitrk6 |
SLIT and NTRK-like family, member 6 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:87,563,506...87,570,125
Ensembl chr15:87,563,322...87,570,393
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G |
Spry2 |
sprouty RTK signaling antagonist 2 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:82,692,312...82,697,408
Ensembl chr15:82,692,143...82,698,009
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Spryd7 |
SPRY domain containing 7 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:35,707,185...35,727,704
Ensembl chr15:35,707,060...35,727,509
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Sucla2 |
succinate-CoA ligase ADP-forming subunit beta |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:48,752,356...48,805,495
Ensembl chr15:48,752,312...48,805,138
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Sugt1 |
SGT1 homolog, MIS12 kinetochore complex assembly cochaperone |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:54,991,419...55,032,244
Ensembl chr15:54,990,672...55,069,150
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Tbc1d4 |
TBC1 domain family, member 4 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:78,256,030...78,434,168
Ensembl chr15:78,257,121...78,434,265
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Tdrd3 |
tudor domain containing 3 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:63,340,531...63,497,208
Ensembl chr15:63,341,235...63,476,110
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G |
Thsd1 |
thrombospondin type 1 domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr16:69,771,408...69,804,844
Ensembl chr16:69,771,408...69,801,504
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Trim13 |
tripartite motif-containing 13 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:35,733,548...35,772,676
Ensembl chr15:35,734,107...35,772,677
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G |
Uchl3 |
ubiquitin C-terminal hydrolase L3 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:78,485,304...78,527,355
Ensembl chr15:78,485,315...78,527,355
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Vps36 |
vacuolar protein sorting 36 homolog |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr16:69,810,404...69,834,789
Ensembl chr16:69,808,193...69,834,810
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Wdfy2 |
WD repeat and FYVE domain containing 2 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:37,083,842...37,209,559
Ensembl chr15:37,042,987...37,209,304
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Adam3a |
ADAM metallopeptidase domain 3A |
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ISO |
DNA, mRNA:amplification, increase expression |
RGD |
PMID:25491297 |
RGD:13831354 |
NCBI chr16:67,299,949...67,349,970
Ensembl chr16:67,299,949...67,349,968
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G |
Pcsk7 |
proprotein convertase subtilisin/kexin type 7 |
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ISO |
ClinVar Annotator: match by term: Corpus callosum lipoma |
ClinVar |
PMID:25741868 |
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NCBI chr 8:46,202,079...46,224,699
Ensembl chr 8:46,202,131...46,224,705
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G |
Apc |
APC regulator of WNT signaling pathway |
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ISO |
ClinVar Annotator: match by term: Craniopharyngioma |
ClinVar |
PMID:1316610 PMID:8162022 PMID:8381579 PMID:8381581 PMID:8395941 PMID:9824584 PMID:10083733 PMID:11247896 PMID:12172928 PMID:12486240 PMID:15311282 PMID:15771908 PMID:16088911 PMID:17293347 PMID:18794146 PMID:19029688 PMID:20649969 PMID:20924072 PMID:22135120 PMID:23159591 PMID:25590978 PMID:25741868 PMID:26446593 PMID:26467025 PMID:26625971 PMID:26840078 PMID:27081525 PMID:28492532 More...
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NCBI chr18:25,828,558...25,925,511
Ensembl chr18:25,864,222...25,922,696
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G |
Braf |
B-Raf proto-oncogene, serine/threonine kinase |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24413733 |
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NCBI chr 4:68,375,484...68,510,652
Ensembl chr 4:68,384,649...68,510,463
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G |
Ctnnb1 |
catenin beta 1 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Craniopharyngioma |
CTD ClinVar |
PMID:9927029 PMID:10192393 PMID:23265383 PMID:24413733 PMID:25157968 PMID:26619011 PMID:26822237 More...
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NCBI chr 8:120,640,008...120,667,110
Ensembl chr 8:120,639,995...120,667,111
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G |
Nf1 |
neurofibromin 1 |
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ISO |
ClinVar Annotator: match by term: Craniopharyngioma |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr10:64,306,027...64,539,112
Ensembl chr10:64,306,301...64,536,658
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Pdgfra |
platelet derived growth factor receptor alpha |
disease_progression |
ISO |
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RGD |
PMID:20190664 |
RGD:11080971 |
NCBI chr14:33,005,838...33,054,347
Ensembl chr14:33,005,839...33,054,335
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G |
Ptch1 |
patched 1 |
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ISO |
ClinVar Annotator: match by term: Craniopharyngioma |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr17:1,542,705...1,607,730
Ensembl chr17:1,542,877...1,607,333
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G |
Sufu |
SUFU negative regulator of hedgehog signaling |
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ISO |
ClinVar Annotator: match by term: Craniopharyngioma |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 1:245,257,725...245,355,576
Ensembl chr 1:245,257,768...245,355,577
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G |
Tsc1 |
TSC complex subunit 1 |
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ISO |
ClinVar Annotator: match by term: Craniopharyngioma |
ClinVar |
PMID:22161988 PMID:25741868 PMID:28492532 |
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NCBI chr 3:11,969,547...12,018,591
Ensembl chr 3:11,979,729...12,015,674
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G |
Gli2 |
GLI family zinc finger 2 |
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ISO |
ClinVar Annotator: match by term: Culler-Jones syndrome |
OMIM ClinVar |
PMID:6726521 PMID:20685856 PMID:22967285 PMID:25741868 PMID:28492532 PMID:31292255 More...
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NCBI chr13:29,946,809...30,163,901
Ensembl chr13:29,946,809...30,163,574
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G |
Braf |
B-Raf proto-oncogene, serine/threonine kinase |
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ISO |
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OMIM |
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NCBI chr 4:68,375,484...68,510,652
Ensembl chr 4:68,384,649...68,510,463
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G |
Mc1r |
melanocortin 1 receptor |
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ISO |
ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 1 |
ClinVar |
PMID:15998953 PMID:16809487 PMID:16982779 PMID:17279550 PMID:17316231 PMID:18067130 PMID:18803811 PMID:19585506 PMID:20876876 PMID:28492532 More...
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NCBI chr19:51,452,448...51,455,375
Ensembl chr19:51,453,239...51,454,192
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Pot1 |
protection of telomeres 1 |
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ISO |
ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 1 |
ClinVar |
PMID:24686846 PMID:25741868 PMID:28492532 PMID:30586141 |
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NCBI chr 4:54,205,330...54,263,137
Ensembl chr 4:54,205,332...54,263,042
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G |
Stk11 |
serine/threonine kinase 11 |
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ISO |
ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 1 |
OMIM ClinVar |
PMID:10201537 PMID:10208439 PMID:23555315 PMID:23993471 PMID:24033266 PMID:24830819 PMID:25142776 PMID:25157968 PMID:25179843 PMID:25186627 PMID:25473901 PMID:25741868 PMID:25980754 PMID:26467025 PMID:26898890 PMID:26928227 PMID:26976419 PMID:27443514 PMID:27621404 PMID:28135145 PMID:28202063 PMID:28492532 PMID:28821472 PMID:28873162 PMID:29458332 More...
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NCBI chr 7:9,574,553...9,591,315
Ensembl chr 7:9,575,269...9,591,315
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G |
Tert |
telomerase reverse transcriptase |
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ISO |
ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 1 |
ClinVar |
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NCBI chr 1:29,637,213...29,659,509
Ensembl chr 1:29,637,506...29,659,561
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G |
Acvr1 |
activin A receptor type 1 |
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ISO |
ClinVar Annotator: match by term: Diffuse intrinsic pontine glioma |
ClinVar |
PMID:24705250 PMID:24705254 PMID:26619011 PMID:31779674 |
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NCBI chr 3:42,978,558...43,097,892
Ensembl chr 3:42,978,561...43,098,241
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G |
Brip1 |
BRCA1 interacting helicase 1 |
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ISO |
ClinVar Annotator: match by term: Diffuse intrinsic pontine glioma |
ClinVar |
PMID:16116424 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:27107905 PMID:28492532 PMID:28911102 PMID:29922827 PMID:30322717 PMID:31265121 PMID:31341520 PMID:31822495 PMID:33619228 More...
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NCBI chr10:70,907,266...71,031,502
Ensembl chr10:70,907,371...71,030,324
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G |
Chek2 |
checkpoint kinase 2 |
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ISO |
ClinVar Annotator: match by term: Diffuse intrinsic pontine glioma |
ClinVar |
PMID:10617473 PMID:11053450 PMID:11479205 PMID:11719428 PMID:11967536 PMID:12094328 PMID:12533788 PMID:12690581 PMID:15087378 PMID:15122511 PMID:15466005 PMID:15492928 PMID:15520402 PMID:16257342 PMID:16492927 PMID:16880452 PMID:17085682 PMID:18172190 PMID:19338683 PMID:19805189 PMID:21779515 PMID:21807500 PMID:21876083 PMID:21956126 PMID:22006311 PMID:22058428 PMID:22419737 PMID:22811390 PMID:22994785 PMID:23329222 PMID:23415889 PMID:23469205 PMID:24033266 PMID:24713400 PMID:24723567 PMID:24884479 PMID:25431674 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: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:31300551 PMID:31993860 PMID:32119081 PMID:32285038 PMID:32295079 PMID:32383162 PMID:32531112 More...
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NCBI chr12:45,788,823...45,821,382
Ensembl chr12:45,788,827...45,821,286
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Nf1 |
neurofibromin 1 |
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ISO |
ClinVar Annotator: match by term: Diffuse intrinsic pontine glioma |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr10:64,306,027...64,539,112
Ensembl chr10:64,306,301...64,536,658
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G |
Men1 |
menin 1 |
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ISO |
associated with Neuroendocrine Tumors; DNA:loss of heterozygosity: : |
RGD |
PMID:17135306 |
RGD:2317341 |
NCBI chr 1:203,638,905...203,644,871
Ensembl chr 1:203,639,000...203,644,871
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G |
Braf |
B-Raf proto-oncogene, serine/threonine kinase |
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ISO |
DNA:mutation:cds:p.V600E(human) |
RGD |
PMID:25346165 |
RGD:11567238 |
NCBI chr 4:68,375,484...68,510,652
Ensembl chr 4:68,384,649...68,510,463
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G |
Amhr2 |
anti-Mullerian hormone receptor type 2 |
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ISO |
protein:increased expression:ovary |
RGD |
PMID:17988723 |
RGD:2315651 |
NCBI chr 7:133,579,152...133,588,874
Ensembl chr 7:133,579,393...133,588,258
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G |
Brca1 |
BRCA1, DNA repair associated |
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ISO |
ClinVar Annotator: match by term: Dysgerminoma |
ClinVar |
PMID:9150151 PMID:11376024 PMID:16683254 PMID:19491284 PMID:20104584 PMID:21204799 PMID:23479189 PMID:23536787 PMID:24010542 PMID:24312913 PMID:24372583 PMID:24728189 PMID:25741868 PMID:26295337 PMID:26296701 PMID:26467025 PMID:26822237 PMID:27062684 PMID:27836010 PMID:28492532 PMID:28993434 PMID:29446198 PMID:29907814 PMID:30078507 PMID:30130155 PMID:30322717 PMID:30702160 PMID:30720863 PMID:31159747 More...
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NCBI chr10:86,417,441...86,477,762
Ensembl chr10:86,418,000...86,477,304
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G |
Fgfr2 |
fibroblast growth factor receptor 2 |
|
ISO |
associated with Acrocephalosyndactylia (MeSH:D000168) |
RGD |
PMID:17243131 |
RGD:2289660 |
NCBI chr 1:184,745,418...184,850,655
Ensembl chr 1:184,745,420...184,850,626
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G |
Inha |
inhibin subunit alpha |
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ISO |
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RGD |
PMID:11720904 |
RGD:2290380 |
NCBI chr 9:76,994,465...76,997,366
Ensembl chr 9:76,993,589...76,997,248
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G |
Kit |
KIT proto-oncogene receptor tyrosine kinase |
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ISO |
ClinVar Annotator: match by term: Dysgerminoma |
ClinVar RGD |
PMID:7479840 PMID:7530509 PMID:7691885 PMID:8589724 PMID:9438854 PMID:9827716 PMID:9990072 PMID:10362788 PMID:11276010 PMID:11380399 PMID:11493470 PMID:15790786 PMID:15972446 PMID:16352739 PMID:16384925 PMID:16731599 PMID:16912224 PMID:17259998 PMID:18024392 PMID:18955458 PMID:18986703 PMID:19164557 PMID:19262599 PMID:19865100 PMID:20147452 PMID:21642685 PMID:21689725 PMID:21690468 PMID:22504184 PMID:23582185 PMID:23714533 PMID:24045550 PMID:25157968 PMID:25741868 PMID:26158763 PMID:26822237 PMID:27777718 PMID:28492532 PMID:10362788 More...
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RGD:2292181 |
NCBI chr14:32,547,459...32,624,694
Ensembl chr14:32,548,877...32,624,652
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G |
Pou5f1 |
POU class 5 homeobox 1 |
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ISO |
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RGD |
PMID:15371950 |
RGD:2292443 |
NCBI chr20:3,223,128...3,227,891
Ensembl chr20:3,223,129...3,227,891
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G |
SET |
SET nuclear proto-oncogene |
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ISO |
ClinVar Annotator: match by term: Dysgerminoma |
ClinVar |
PMID:26822237 |
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NCBI chr 3:13,334,564...13,345,598
Ensembl chr 3:13,335,041...13,363,567
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G |
St14 |
ST14 transmembrane serine protease matriptase |
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ISO |
protein:increased expression:ovary |
RGD |
PMID:16439987 |
RGD:2315091 |
NCBI chr 8:29,540,805...29,581,704
Ensembl chr 8:29,540,811...29,581,517
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G |
Bcl7c |
BAF chromatin remodeling complex subunit BCL7C |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26075792 |
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NCBI chr 1:182,277,163...182,324,274
Ensembl chr 1:182,260,164...182,324,163
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G |
Ephb2 |
Eph receptor B2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26075792 |
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NCBI chr 5:148,889,574...149,077,027
Ensembl chr 5:148,897,246...149,077,059
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G |
Gdnf |
glial cell derived neurotrophic factor |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19138852 |
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NCBI chr 2:56,893,992...56,919,935
Ensembl chr 2:56,895,010...56,917,209
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G |
Igf2 |
insulin-like growth factor 2 |
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ISO |
mRNA:increased expression:cerebellum |
RGD |
PMID:18478565 |
RGD:5509961 |
NCBI chr 1:197,814,409...197,831,802
Ensembl chr 1:197,814,410...197,823,018
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G |
Rab3a |
RAB3A, member RAS oncogene family |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26075792 |
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NCBI chr16:18,684,185...18,688,297
Ensembl chr16:18,684,188...18,688,336
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G |
Rtbdn |
retbindin |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26075792 |
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NCBI chr19:23,197,506...23,205,544
Ensembl chr19:23,197,506...23,204,438
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G |
Shc3 |
SHC adaptor protein 3 |
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ISO |
DNA:amplification:brain: |
RGD |
PMID:19748727 |
RGD:13782069 |
NCBI chr17:13,652,247...13,772,710
Ensembl chr17:13,651,202...13,772,710
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G |
Zfp668 |
zinc finger protein 668 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26075792 |
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NCBI chr 1:182,474,633...182,484,957
Ensembl chr 1:182,474,633...182,492,878
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G |
Acss1 |
acyl-CoA synthetase short-chain family member 1 |
treatment |
ISO |
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RGD |
PMID:27539851 |
RGD:13831304 |
NCBI chr 3:139,450,383...139,500,325
Ensembl chr 3:139,450,383...139,500,325
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G |
Acss2 |
acyl-CoA synthetase short-chain family member 2 |
treatment |
ISO |
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RGD |
PMID:27539851 |
RGD:13831304 |
NCBI chr 3:144,003,808...144,047,452
Ensembl chr 3:144,004,336...144,059,675
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G |
Antxr1 |
ANTXR cell adhesion molecule 1 |
treatment |
ISO |
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RGD |
PMID:19622764 PMID:19609240 |
RGD:9684925, RGD:9684939 |
NCBI chr 4:119,590,770...119,778,232
Ensembl chr 4:119,590,771...119,778,232
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G |
Braf |
B-Raf proto-oncogene, serine/threonine kinase |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29179997 PMID:29438700 |
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NCBI chr 4:68,375,484...68,510,652
Ensembl chr 4:68,384,649...68,510,463
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G |
Calr |
calreticulin |
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ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:16388313 |
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NCBI chr19:23,308,525...23,313,420
Ensembl chr19:23,308,351...23,313,414
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G |
Ccl20 |
C-C motif chemokine ligand 20 |
treatment |
ISO |
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RGD |
PMID:14500387 |
RGD:7483600 |
NCBI chr 9:84,389,031...84,391,629
Ensembl chr 9:84,388,904...84,391,629
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G |
Ctla4 |
cytotoxic T-lymphocyte-associated protein 4 |
treatment |
ISO |
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RGD |
PMID:24041689 |
RGD:7411680 |
NCBI chr 9:62,318,874...62,325,978
Ensembl chr 9:62,319,312...62,324,963
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G |
Egr1 |
early growth response 1 |
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ISO |
mRNA, protein:increased expression:salivary gland (mouse) |
RGD |
PMID:19517020 |
RGD:5131885 |
NCBI chr18:26,463,333...26,465,531
Ensembl chr18:26,462,981...26,466,766
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G |
Esr2 |
estrogen receptor 2 |
severity |
ISO |
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RGD |
PMID:20354658 |
RGD:8694122 |
NCBI chr 6:94,858,438...94,909,630
Ensembl chr 6:94,809,547...94,908,919
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G |
Hgf |
hepatocyte growth factor |
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ISO |
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RGD |
PMID:9823327 |
RGD:8548620 |
NCBI chr 4:18,673,736...18,745,582
Ensembl chr 4:18,677,101...18,745,409
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G |
Ifnb1 |
interferon beta 1 |
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ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:16417267 |
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NCBI chr 5:103,020,969...103,021,523
Ensembl chr 5:103,020,969...103,021,523
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G |
Ikbkb |
inhibitor of nuclear factor kappa B kinase subunit beta |
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ISO |
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RGD |
PMID:19276165 |
RGD:7495758 |
NCBI chr16:69,319,487...69,373,251
Ensembl chr16:69,319,554...69,373,250
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G |
Il18 |
interleukin 18 |
treatment |
ISO |
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RGD |
PMID:12230493 PMID:17411412 |
RGD:8655870, RGD:8655901 |
NCBI chr 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887
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G |
Il1a |
interleukin 1 alpha |
treatment |
ISO |
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RGD |
PMID:8061895 |
RGD:7794735 |
NCBI chr 3:116,526,601...116,537,055
Ensembl chr 3:116,526,604...116,536,822
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G |
Il1b |
interleukin 1 beta |
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ISO |
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RGD |
PMID:1966551 |
RGD:7401226 |
NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
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G |
Il2 |
interleukin 2 |
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ISO |
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RGD |
PMID:11884028 |
RGD:8662950 |
NCBI chr 2:120,004,862...120,009,566
Ensembl chr 2:120,004,862...120,009,566
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G |
Kdm1a |
lysine demethylase 1A |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29438700 |
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NCBI chr 5:148,782,976...148,838,319
Ensembl chr 5:148,782,976...148,838,319
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G |
Kdm4c |
lysine demethylase 4C |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29438700 |
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NCBI chr 5:88,100,710...88,306,821
Ensembl chr 5:88,100,733...88,306,818
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G |
Mc1r |
melanocortin 1 receptor |
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ISO |
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RGD |
PMID:20126537 |
RGD:5687319 |
NCBI chr19:51,452,448...51,455,375
Ensembl chr19:51,453,239...51,454,192
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G |
Pdcd1 |
programmed cell death 1 |
treatment |
ISO |
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RGD |
PMID:19208793 |
RGD:9589070 |
NCBI chr 9:94,418,786...94,431,945
Ensembl chr 9:94,418,791...94,431,937
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G |
Pten |
phosphatase and tensin homolog |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29179997 |
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NCBI chr 1:230,631,303...230,696,754
Ensembl chr 1:230,630,338...230,696,838
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G |
Pxn |
paxillin |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18492274 |
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NCBI chr12:41,060,791...41,107,962
Ensembl chr12:41,060,791...41,107,931
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G |
Tert |
telomerase reverse transcriptase |
treatment |
ISO |
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RGD |
PMID:19903903 |
RGD:11038656 |
NCBI chr 1:29,637,213...29,659,509
Ensembl chr 1:29,637,506...29,659,561
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G |
Aip |
aryl-hydrocarbon receptor-interacting protein |
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ISO |
ClinVar Annotator: match by term: Pituitary adenoma, familial isolated |
ClinVar |
PMID:16728643 PMID:17242703 PMID:17244780 PMID:17609395 PMID:18484068 PMID:19474519 PMID:20506337 PMID:21348957 PMID:21753072 PMID:22319033 PMID:22915287 PMID:24050928 PMID:25184284 PMID:25614825 PMID:25741868 PMID:26186299 PMID:26792934 PMID:28255869 PMID:28492532 PMID:29074612 More...
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NCBI chr 1:201,407,287...201,419,220
Ensembl chr 1:201,407,288...201,419,122
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G |
Alk |
ALK receptor tyrosine kinase |
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ISO |
ClinVar Annotator: match by term: Pituitary adenoma, familial isolated |
ClinVar |
PMID:9536098 PMID:17576681 PMID:21838707 PMID:22072639 PMID:28492532 |
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NCBI chr 6:22,879,653...23,599,636
Ensembl chr 6:22,880,625...23,598,034
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G |
Gnai2 |
G protein subunit alpha i2 |
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ISO |
ClinVar Annotator: match by term: Pituitary adenoma, familial isolated |
ClinVar |
PMID:25741868 |
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NCBI chr 8:108,288,401...108,309,009
Ensembl chr 8:108,288,401...108,308,979
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G |
Insrr |
insulin receptor-related receptor |
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ISO |
ClinVar Annotator: match by term: Familial medullary thyroid carcinoma | ClinVar Annotator: match by term: Thyroid cancer, familial medullary |
ClinVar |
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NCBI chr 2:173,255,335...173,274,800
Ensembl chr 2:173,255,414...173,274,800
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G |
Ntrk1 |
neurotrophic receptor tyrosine kinase 1 |
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ISO |
ClinVar Annotator: match by term: Familial medullary thyroid carcinoma | ClinVar Annotator: match by term: Thyroid cancer, familial medullary |
ClinVar |
PMID:10330344 PMID:10443680 PMID:11139246 PMID:11159935 PMID:11719521 PMID:25741868 PMID:26467025 PMID:28492532 PMID:32807182 More...
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NCBI chr 2:173,236,961...173,253,806
Ensembl chr 2:173,236,963...173,253,770
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G |
Prlr |
prolactin receptor |
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ISS |
OMIM:155240 |
MouseDO |
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NCBI chr 2:59,134,147...59,324,719
Ensembl chr 2:59,134,588...59,324,718
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G |
Ret |
ret proto-oncogene |
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ISO |
ClinVar Annotator: match by term: Familial medullary thyroid carcinoma | ClinVar Annotator: match by term: Thyroid cancer, familial medullary CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:2660074 PMID:3078962 PMID:3697657 PMID:7536460 PMID:7595170 PMID:7633441 PMID:7647787 PMID:7784092 PMID:7824936 PMID:7835899 PMID:7845675 PMID:7849720 PMID:7874109 PMID:7881414 PMID:7906417 PMID:7906866 PMID:7907913 PMID:7911697 PMID:7915165 PMID:7915166 PMID:7977365 PMID:8099202 PMID:8103403 PMID:8114940 PMID:8557249 PMID:8570194 PMID:8595427 PMID:8675603 PMID:8733882 PMID:8782503 PMID:8797874 PMID:8807338 PMID:8855832 PMID:8909322 PMID:8918855 PMID:9067749 PMID:9090527 PMID:9111992 PMID:9111993 PMID:9146685 PMID:9174404 PMID:9230192 PMID:9242375 PMID:9259198 PMID:9263528 PMID:9384613 PMID:9398735 PMID:9452077 PMID:9467562 PMID:9498388 PMID:9506724 PMID:9620546 PMID:9681850 PMID:9681851 PMID:9727738 PMID:9760196 PMID:9824583 PMID:9839497 PMID:9879991 PMID:9950371 PMID:10024437 PMID:10076558 PMID:10220148 PMID:10235148 PMID:10323403 PMID:10369718 PMID:10445857 PMID:10462620 PMID:10490816 PMID:10646792 PMID:10679286 PMID:10777380 PMID:10790203 PMID:10826520 PMID:10876191 PMID:10982477 PMID:11114642 PMID:11230481 PMID:11238493 PMID:11351254 PMID:11386462 PMID:11436122 PMID:11454140 PMID:11471675 PMID:11562352 PMID:11589684 PMID:11688458 PMID:11732489 PMID:11739416 PMID:11849247 PMID:11932300 PMID:11935126 PMID:11939755 PMID:12000816 PMID:12019403 PMID:12116277 PMID:12150334 PMID:12409662 PMID:12410354 PMID:12490841 PMID:12566528 PMID:12686527 PMID:12694233 PMID:12788868 PMID:12864791 PMID:12920219 PMID:14517954 PMID:14561794 PMID:14566559 PMID:14602786 PMID:14633923 PMID:14715928 PMID:14718397 PMID:15184865 PMID:15240641 PMID:15277225 PMID:15292360 PMID:15345114 PMID:15386323 PMID:15531714 PMID:15588376 PMID:15588381 PMID:15699703 PMID:15741265 PMID:15753368 PMID:15855933 PMID:15858153 PMID:15870131 PMID:16118333 PMID:16275981 PMID:16314641 PMID:16343097 PMID:16384843 PMID:16441254 PMID:16469774 PMID:16507829 PMID:16525712 PMID:16532227 PMID:16649977 PMID:16705552 PMID:16712668 PMID:16715139 PMID:16736292 PMID:16813623 PMID:16849421 PMID:16865646 PMID:16865647 PMID:16868135 PMID:16928683 PMID:17021738 PMID:17047083 PMID:17097365 PMID:17108110 PMID:17178962 PMID:17209045 PMID:17270543 PMID:17384210 PMID:17466010 PMID:17483988 PMID:17540634 PMID:17590169 PMID:17605401 PMID:17610518 PMID:17664273 PMID:17704047 PMID:17895320 PMID:18058472 PMID:18062802 PMID:18063059 PMID:18073307 PMID:18206480 PMID:18209889 PMID:18252215 PMID:18541894 PMID:18805915 PMID:19041016 PMID:19169500 PMID:19201392 PMID:19255327 PMID:19469690 PMID:19472011 PMID:19826964 PMID:19906784 PMID:19958926 PMID:20039896 PMID:20065189 PMID:20080836 PMID:20087666 PMID:20103606 PMID:20368568 PMID:20369307 PMID:20442138 PMID:20497437 PMID:20516206 PMID:20554711 PMID:20833330 PMID:20847059 PMID:20979234 PMID:20981092 PMID:21134561 PMID:21253810 PMID:21254918 PMID:21311890 PMID:21422799 PMID:21422803 PMID:21455200 PMID:21470995 PMID:21479187 PMID:21626080 PMID:21655256 PMID:21678021 PMID:21688339 PMID:21690267 PMID:21711375 PMID:21765987 PMID:21810974 PMID:21834681 PMID:21986619 PMID:21995290 PMID:22025146 PMID:22068382 PMID:22174939 PMID:22199277 PMID:22233172 PMID:22270996 PMID:22359510 PMID:22403753 PMID:22584710 PMID:22676047 PMID:22676344 PMID:22703879 PMID:22729463 PMID:22837065 PMID:22865907 PMID:22965292 PMID:22992277 PMID:22995991 PMID:23056499 PMID:23084198 PMID:23210566 PMID:23278115 PMID:23295303 PMID:23341727 PMID:23461807 PMID:23468374 PMID:23527089 PMID:23660872 PMID:23723040 PMID:23744765 PMID:23745650 PMID:23756355 PMID:24033266 PMID:24064755 PMID:24152999 PMID:24331334 PMID:24336963 PMID:24361808 PMID:24375508 PMID:24449023 PMID:24616773 PMID:24617864 PMID:24699901 PMID:24716929 PMID:24728327 PMID:24805091 PMID:24845513 PMID:25157968 PMID:25319874 PMID:25374962 PMID:25425582 PMID:25440022 PMID:25501606 PMID:25628771 PMID:25637381 PMID:25694125 PMID:25741868 PMID:25759805 PMID:25767701 PMID:25810047 PMID:25887804 PMID:26046350 PMID:26084817 PMID:26230854 PMID:26247112 PMID:26269449 PMID:26356818 PMID:26395553 PMID:26467025 PMID:26678667 PMID:26687385 PMID:26845104 PMID:26920351 PMID:27153395 PMID:27539324 PMID:27673361 PMID:27807060 PMID:27809725 PMID:27884173 PMID:27994876 PMID:28125075 PMID:28323957 PMID:28492532 PMID:28647780 PMID:28873162 PMID:28946813 PMID:28951487 PMID:29026273 PMID:29097883 PMID:29396759 PMID:29408964 PMID:29420094 PMID:29549836 PMID:29625052 PMID:29656518 PMID:29684080 PMID:29790872 PMID:30392857 PMID:30763276 PMID:30877234 PMID:30884088 PMID:30927507 PMID:31447099 PMID:31510104 PMID:31937788 More...
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NCBI chr 4:151,325,969...151,368,176
Ensembl chr 4:151,326,431...151,368,176
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G |
Cdk4 |
cyclin-dependent kinase 4 |
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ISO |
ClinVar Annotator: match by term: Cutaneous Malignant Melanoma, Dominant | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 |
OMIM ClinVar |
PMID:5377176 PMID:7652577 PMID:8528263 PMID:8968104 PMID:9228064 PMID:9311594 PMID:9425228 PMID:9536098 PMID:10398427 PMID:11756559 PMID:11828258 PMID:14621993 PMID:15880589 PMID:16201750 PMID:17576681 PMID:19139070 PMID:19690981 PMID:19888216 PMID:20668451 PMID:21520333 PMID:21801156 PMID:22804906 PMID:22932448 PMID:23384855 PMID:23546221 PMID:23718828 PMID:24162924 PMID:24256466 PMID:24321989 PMID:24728327 PMID:24755471 PMID:25157968 PMID:25186627 PMID:25318351 PMID:25416956 PMID:25741868 PMID:25980754 PMID:26252490 PMID:26467025 PMID:26534844 PMID:26580448 PMID:26619011 PMID:26800492 PMID:26976419 PMID:27640074 PMID:27978560 PMID:27997549 PMID:28060055 PMID:28135145 PMID:28166811 PMID:28380455 PMID:28492532 PMID:28726808 PMID:29641532 PMID:29774366 PMID:29917049 PMID:30093976 PMID:31159747 PMID:31570899 PMID:32645390 More...
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NCBI chr 7:62,885,647...62,889,562
Ensembl chr 7:62,883,105...62,942,403
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G |
Cdkn2a |
cyclin-dependent kinase inhibitor 2A |
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ISO |
ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Hereditary cutaneous melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 2 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Hereditary cutaneous melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 2 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 |
OMIM ClinVar |
PMID:865368 PMID:2319082 PMID:2677576 PMID:7566978 PMID:7569991 PMID:7614482 PMID:7624155 PMID:7632931 PMID:7640518 PMID:7647780 PMID:7666917 PMID:7670475 PMID:7718873 PMID:7777061 PMID:7780957 PMID:7796400 PMID:7881419 PMID:7882348 PMID:7923152 PMID:7970734 PMID:7972006 PMID:7987387 PMID:7987388 PMID:8012957 PMID:8023167 PMID:8060323 PMID:8153634 PMID:8213823 PMID:8521414 PMID:8552158 PMID:8552400 PMID:8561866 PMID:8570179 PMID:8573142 PMID:8595405 PMID:8595411 PMID:8603820 PMID:8631588 PMID:8653684 PMID:8668202 PMID:8710906 PMID:8723678 PMID:8727306 PMID:8755727 PMID:8834170 PMID:8841025 PMID:8910511 PMID:9049826 PMID:9053859 PMID:9132280 PMID:9133447 PMID:9166859 PMID:9168184 PMID:9185756 PMID:9212218 PMID:9324288 PMID:9328469 PMID:9366518 PMID:9389568 PMID:9416844 PMID:9425228 PMID:9473234 PMID:9516223 PMID:9536098 PMID:9603434 PMID:9622062 PMID:9660926 PMID:9699728 PMID:9710613 PMID:9751050 PMID:9782052 PMID:9808520 PMID:9823374 PMID:9856796 PMID:9856841 PMID:9916806 PMID:9935245 PMID:10070944 PMID:10229204 PMID:10338331 PMID:10360174 PMID:10389768 PMID:10390011 PMID:10398427 PMID:10400925 PMID:10491434 PMID:10498896 PMID:10508477 PMID:10627132 PMID:10667595 PMID:10719365 PMID:10738302 PMID:10854221 PMID:10861313 PMID:10869234 PMID:10871849 PMID:10874641 PMID:10892805 PMID:10922411 PMID:10951521 PMID:10956390 PMID:11008905 PMID:11058911 PMID:11075991 PMID:11078762 PMID:11113205 PMID:11136714 PMID:11156381 PMID:11319798 PMID:11358797 PMID:11360201 PMID:11433531 PMID:11477665 PMID:11500805 PMID:11506491 PMID:11511321 PMID:11518711 PMID:11556834 PMID:11571653 PMID:11579459 PMID:11595726 PMID:11687599 PMID:11726555 PMID:11807902 PMID:11815963 PMID:12001124 PMID:12019208 PMID:12072543 PMID:12118338 PMID:12175554 PMID:12352668 PMID:12417040 PMID:12417717 PMID:12454511 PMID:12461329 PMID:12485439 PMID:12517341 PMID:12532425 PMID:12538475 PMID:12549483 PMID:12556369 PMID:12606942 PMID:12614625 PMID:12673200 PMID:12700603 PMID:12853981 PMID:12894891 PMID:12920094 PMID:12950144 PMID:14506702 PMID:14508519 PMID:14584079 PMID:14679123 PMID:14722037 PMID:14735200 PMID:14745721 PMID:15009729 PMID:15075790 PMID:15122588 PMID:15140233 PMID:15140239 PMID:15146471 PMID:15150307 PMID:15173226 PMID:15235029 PMID:15298727 PMID:15304098 PMID:15705881 PMID:15761864 PMID:15856016 PMID:15860862 PMID:15937071 PMID:15945100 PMID:16032697 PMID:16169933 PMID:16199547 PMID:16214921 PMID:16234564 PMID:16307646 PMID:16354195 PMID:16374456 PMID:16397522 PMID:16614725 PMID:16818274 PMID:16893909 PMID:16896043 PMID:16905682 PMID:17001621 PMID:17047042 PMID:17055252 PMID:17167857 PMID:17171691 PMID:17218939 PMID:17255954 PMID:17276542 PMID:17370310 PMID:17397031 PMID:17440112 PMID:17492760 PMID:17576681 PMID:17624602 PMID:17625456 PMID:17713569 PMID:17890059 PMID:17909018 PMID:17992122 PMID:18023021 PMID:18025365 PMID:18178632 PMID:18335566 PMID:18337833 PMID:18363633 PMID:18519632 PMID:18573309 PMID:18714178 PMID:18803811 PMID:18813118 PMID:18843795 PMID:18951449 PMID:18981015 PMID:18983535 PMID:19043591 PMID:19141585 PMID:19158841 PMID:19260062 PMID:19260067 PMID:19320745 PMID:19331830 PMID:19360740 PMID:19484507 PMID:19500876 PMID:19523171 PMID:19571771 PMID:19690981 PMID:19712690 PMID:19759551 PMID:19799798 PMID:20093296 PMID:20132244 PMID:20340136 PMID:20340316 PMID:20505745 PMID:20522552 PMID:20526219 PMID:20539244 PMID:20653773 PMID:20876876 PMID:21085193 PMID:21150883 PMID:21325014 PMID:21462282 PMID:21503581 PMID:21507037 PMID:21609436 PMID:21614589 PMID:21619050 PMID:21801156 PMID:21893440 PMID:22292911 PMID:22368299 PMID:22440936 PMID:22447455 PMID:22561520 PMID:22636603 PMID:22703879 PMID:22804906 PMID:22841127 PMID:22911296 PMID:22995991 PMID:23190892 PMID:23371019 PMID:23613284 PMID:23757202 PMID:23897584 PMID:24033266 PMID:24185512 PMID:24336570 PMID:24436120 PMID:24569790 PMID:24659262 PMID:24660985 PMID:24728327 PMID:24733792 PMID:24737347 PMID:24935963 PMID:25064638 PMID:25078331 PMID:25149524 PMID:25157968 PMID:25186627 PMID:25227142 PMID:25294512 PMID:25318351 PMID:25356972 PMID:25370744 PMID:25372287 PMID:25479140 PMID:25503501 PMID:25741868 PMID:25780468 PMID:25787093 PMID:25803691 PMID:25813228 PMID:25846456 PMID:25877891 PMID:25980754 PMID:26104880 PMID:26206375 PMID:26225579 PMID:26295973 PMID:26381259 PMID:26467025 PMID:26474073 PMID:26483394 PMID:26498684 PMID:26542317 PMID:26581427 PMID:26601054 PMID:26619011 PMID:26650189 PMID:26650572 PMID:26658419 PMID:26670561 PMID:26681309 PMID:26775776 PMID:26800492 PMID:26845104 PMID:26876133 PMID:26892650 PMID:26907448 PMID:26976419 PMID:27045317 PMID:27077911 PMID:27083775 PMID:27181379 PMID:27267843 PMID:27287845 PMID:27443514 PMID:27473757 PMID:27519597 PMID:27568332 PMID:27621404 PMID:27626068 PMID:27701467 PMID:27756164 PMID:27804060 PMID:27960642 PMID:27978560 PMID:28060055 PMID:28120917 PMID:28135145 PMID:28146043 PMID:28166811 PMID:28188106 PMID:28410231 PMID:28440912 PMID:28454591 PMID:28492532 PMID:28521409 PMID:28592523 PMID:28599463 PMID:28640387 PMID:28717660 PMID:28726808 PMID:28765326 PMID:28767289 PMID:28830827 PMID:28830923 PMID:28866070 PMID:28873162 PMID:28944238 PMID:28979722 PMID:29036293 PMID:29091774 PMID:29263814 PMID:29360161 PMID:29464027 PMID:29506128 PMID:29533785 PMID:29541281 PMID:29543703 PMID:29641532 PMID:29661971 PMID:29758216 PMID:29774366 PMID:29922827 PMID:29983899 PMID:30038052 PMID:30086788 PMID:30093976 PMID:30207590 PMID:30274933 PMID:30291219 PMID:30303537 PMID:30339520 PMID:30709382 PMID:30742731 PMID:30967399 PMID:31001908 PMID:31382929 PMID:31775759 PMID:31921681 PMID:32113160 PMID:32191290 PMID:33322357 PMID:33823155 PMID:109563903 More...
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NCBI chr 5:103,984,949...103,992,143
Ensembl chr 5:103,984,949...104,003,149
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G |
Cdkn2b |
cyclin-dependent kinase inhibitor 2B |
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ISO |
ClinVar Annotator: match by term: Familial melanoma |
ClinVar |
PMID:9622062 PMID:28492532 |
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NCBI chr 5:104,009,839...104,019,082
Ensembl chr 5:104,010,680...104,019,050
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G |
Fanca |
FA complementation group A |
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ISO |
ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 |
ClinVar |
PMID:28492532 |
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NCBI chr19:51,304,021...51,362,586
Ensembl chr19:51,304,021...51,362,527
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G |
Klc1 |
kinesin light chain 1 |
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ISO |
ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 6 |
ClinVar |
PMID:11059748 |
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NCBI chr 6:130,823,416...130,866,729
Ensembl chr 6:130,823,419...130,867,031
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G |
Mc1r |
melanocortin 1 receptor |
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ISO |
ClinVar Annotator: match by term: Cutaneous malignant melanoma 5 | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Hereditary cutaneous melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 ClinVar Annotator: match by term: Cutaneous malignant melanoma 5 | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 |
OMIM ClinVar |
PMID:7581459 PMID:8894704 PMID:8944016 PMID:8990005 PMID:9032047 PMID:9302268 PMID:9571181 PMID:9665397 PMID:10403794 PMID:10631149 PMID:10733465 PMID:10816645 PMID:11030758 PMID:11254446 PMID:11487574 PMID:11511307 PMID:11707265 PMID:11933208 PMID:12687585 PMID:12839583 PMID:12851329 PMID:12876664 PMID:14757863 PMID:14961558 PMID:14975928 PMID:15221796 PMID:15957185 PMID:15979202 PMID:15994880 PMID:15998953 PMID:16172233 PMID:16280005 PMID:16309897 PMID:16463023 PMID:16567973 PMID:16595073 PMID:16601669 PMID:16645598 PMID:16809487 PMID:16982779 PMID:16988943 PMID:17072629 PMID:17279550 PMID:17316231 PMID:17434924 PMID:17496785 PMID:17616515 PMID:17952075 PMID:18067130 PMID:18366057 PMID:18402696 PMID:18795926 PMID:18803811 PMID:18839200 PMID:18983535 PMID:19194882 PMID:19269164 PMID:19320745 PMID:19338054 PMID:19493000 PMID:19585506 PMID:19656326 PMID:19710684 PMID:19799798 PMID:19924138 PMID:20043015 PMID:20158590 PMID:20457063 PMID:20629734 PMID:20876876 PMID:21128237 PMID:21430882 PMID:21672182 PMID:21749400 PMID:22079958 PMID:22095472 PMID:22095742 PMID:22493355 PMID:22547573 PMID:22854540 PMID:22978401 PMID:23312576 PMID:23360207 PMID:23384855 PMID:23522749 PMID:23647022 PMID:23711066 PMID:24033266 PMID:24045876 PMID:24238329 PMID:24335900 PMID:24439955 PMID:24617981 PMID:24982914 PMID:25268584 PMID:25284244 PMID:25631192 PMID:25736238 PMID:25741868 PMID:25794181 PMID:26103569 PMID:26197705 PMID:26389967 PMID:26546047 PMID:26800492 PMID:27084066 PMID:27229376 PMID:27473757 PMID:28166811 PMID:28242083 PMID:28492532 PMID:28869973 PMID:29340229 PMID:31382929 More...
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NCBI chr19:51,452,448...51,455,375
Ensembl chr19:51,453,239...51,454,192
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G |
Mitf |
melanocyte inducing transcription factor |
susceptibility |
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 8 ClinVar Annotator: match by term: MELANOMA AND RENAL CELL CARCINOMA, SUSCEPTIBILITY TO |
CTD ClinVar OMIM |
PMID:2440678 PMID:22012259 PMID:22080950 PMID:22158021 PMID:23167872 PMID:23774529 PMID:23787126 PMID:23802662 PMID:24033266 PMID:24290354 PMID:24352080 PMID:24406078 PMID:24660985 PMID:24767713 PMID:25407435 PMID:25741868 PMID:25803691 PMID:25975176 PMID:26650189 PMID:26775776 PMID:26800492 PMID:26999813 PMID:27153395 PMID:27473757 PMID:27680874 PMID:28125078 PMID:28152038 PMID:28376192 PMID:28492532 PMID:28825054 PMID:29506128 PMID:29706638 PMID:30414346 PMID:31465090 PMID:32054529 PMID:33240314 More...
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NCBI chr 4:130,409,020...130,621,145
Ensembl chr 4:130,409,217...130,621,145
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G |
Pot1 |
protection of telomeres 1 |
susceptibility |
ISO |
ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: MELANOMA AND RENAL CELL CARCINOMA, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:19461895 PMID:23502782 PMID:24686846 PMID:24686849 PMID:25244922 PMID:25482530 PMID:25640679 PMID:25741868 PMID:25877891 PMID:25934589 PMID:26365187 PMID:26403419 PMID:26467025 PMID:27239034 PMID:27329137 PMID:27528712 PMID:27869160 PMID:28166811 PMID:28393830 PMID:28393832 PMID:28492532 PMID:28853721 PMID:29036293 PMID:29522175 PMID:29523635 PMID:29625052 PMID:29693246 PMID:30451293 PMID:30523342 PMID:30586141 PMID:30975761 PMID:31919090 PMID:32155570 PMID:32325837 PMID:32907878 PMID:33119245 PMID:33216348 More...
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NCBI chr 4:54,205,330...54,263,137
Ensembl chr 4:54,205,332...54,263,042
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G |
Spire2 |
spire-type actin nucleation factor 2 |
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ISO |
ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 |
ClinVar |
PMID:28492532 |
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NCBI chr19:51,373,368...51,411,920
Ensembl chr19:51,373,228...51,411,920
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G |
Tcf25 |
transcription factor 25 |
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ISO |
ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 |
ClinVar |
PMID:28492532 |
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NCBI chr19:51,415,341...51,449,725
Ensembl chr19:51,415,543...51,449,723
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G |
Tert |
telomerase reverse transcriptase |
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ISO |
ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 9 |
OMIM ClinVar |
PMID:20871597 PMID:22037553 PMID:23066086 PMID:23348503 PMID:23535731 PMID:25741868 PMID:26194807 PMID:26433962 PMID:28492532 PMID:31395865 More...
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NCBI chr 1:29,637,213...29,659,509
Ensembl chr 1:29,637,506...29,659,561
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G |
Tp53 |
tumor protein p53 |
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ISO |
ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 ClinVar Annotator: match by term: Familial melanoma |
ClinVar |
PMID:12826609 PMID:25741868 PMID:28492532 |
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NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
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G |
Tspan31 |
tetraspanin 31 |
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ISO |
ClinVar Annotator: match by term: Cutaneous Malignant Melanoma, Dominant | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 |
ClinVar |
PMID:9536098 PMID:17576681 PMID:20668451 PMID:21520333 PMID:23718828 PMID:24728327 PMID:24755471 PMID:25318351 PMID:25741868 PMID:25980754 PMID:26252490 PMID:26467025 PMID:27997549 PMID:28166811 PMID:28492532 PMID:29917049 PMID:30093976 PMID:31159747 More...
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NCBI chr 7:62,889,552...62,892,428
Ensembl chr 7:62,889,552...62,898,388
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G |
Tyr |
tyrosinase |
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ISO |
ClinVar Annotator: match by term: MELANOMA AND RENAL CELL CARCINOMA, SUSCEPTIBILITY TO |
ClinVar |
PMID:666627 PMID:1429711 PMID:1820207 PMID:7704033 PMID:9158138 PMID:10766867 PMID:17952075 PMID:18326704 PMID:18488027 PMID:18488028 PMID:18925668 PMID:19208379 PMID:19533789 PMID:21541274 PMID:23504663 PMID:25216246 PMID:25741868 PMID:28492532 More...
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NCBI chr 1:141,115,036...141,210,207
Ensembl chr 1:141,115,036...141,210,207
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G |
Xrcc3 |
X-ray repair cross complementing 3 |
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ISO |
ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 6 |
ClinVar OMIM |
PMID:11059748 |
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NCBI chr 6:130,863,405...130,873,765
Ensembl chr 6:130,863,959...130,872,444
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G |
Mn1 |
MN1 proto-oncogene, transcriptional regulator |
susceptibility |
ISO |
ClinVar Annotator: match by term: Familial meningioma CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:25741868 |
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NCBI chr12:45,184,060...45,220,102
Ensembl chr12:45,183,085...45,221,651
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G |
Nf2 |
NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor |
susceptibility |
ISO |
ClinVar Annotator: match by term: Familial meningioma CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:20553997 PMID:25741868 PMID:28492532 |
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NCBI chr14:79,627,399...79,710,709
Ensembl chr14:79,627,399...79,710,667
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G |
Pdgfb |
platelet derived growth factor subunit B |
susceptibility |
ISO |
ClinVar Annotator: match by term: Familial meningioma CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:25741868 |
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NCBI chr 7:111,539,444...111,557,984
Ensembl chr 7:111,540,345...111,557,984
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G |
Pten |
phosphatase and tensin homolog |
susceptibility |
ISO |
ClinVar Annotator: match by term: Familial meningioma CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:9399897 PMID:9425889 PMID:9467011 PMID:10232405 PMID:10353779 PMID:10400993 PMID:10468583 PMID:10555148 PMID:10749983 PMID:10848731 PMID:11685670 PMID:11939587 PMID:14518070 PMID:14566704 PMID:16014636 PMID:16199547 PMID:16773562 PMID:17392703 PMID:17526801 PMID:17898811 PMID:17942903 PMID:20301661 PMID:20600018 PMID:21194675 PMID:21828076 PMID:21956414 PMID:22381246 PMID:22595938 PMID:23442912 PMID:23470840 PMID:23475934 PMID:23695273 PMID:24033266 PMID:24052722 PMID:24375884 PMID:24778394 PMID:25022750 PMID:25132236 PMID:25157968 PMID:25326635 PMID:25525159 PMID:25669429 PMID:25741868 PMID:25756585 PMID:25875300 PMID:26468640 PMID:27477328 PMID:27531073 PMID:27959697 PMID:28492532 PMID:28526761 PMID:28677221 PMID:30287823 PMID:30311380 PMID:30614812 PMID:32238909 PMID:32350270 PMID:33077954 PMID:33600059 More...
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NCBI chr 1:230,631,303...230,696,754
Ensembl chr 1:230,630,338...230,696,838
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G |
Smarce1 |
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 |
susceptibility |
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Familial meningioma |
CTD ClinVar OMIM |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:22426308 PMID:23377182 PMID:25169753 PMID:25741868 PMID:26803492 PMID:28492532 PMID:29625052 More...
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NCBI chr10:84,159,270...84,180,547
Ensembl chr10:84,159,275...84,179,989
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G |
Sufu |
SUFU negative regulator of hedgehog signaling |
susceptibility |
ISO |
ClinVar Annotator: match by term: Familial meningioma CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:22958902 PMID:25741868 |
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NCBI chr 1:245,257,725...245,355,576
Ensembl chr 1:245,257,768...245,355,577
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G |
Rb1 |
RB transcriptional corepressor 1 |
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ISO |
DNA:mutations:promoter, intron, exon:multiple |
RGD |
PMID:17096365 |
RGD:8547984 |
NCBI chr15:48,371,295...48,502,473
Ensembl chr15:48,371,296...48,502,302
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G |
Kras |
KRAS proto-oncogene, GTPase |
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ISO |
mRNA:decreased expression:brain |
RGD |
PMID:19179066 |
RGD:13702872 |
NCBI chr 4:178,185,418...178,218,484
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G |
Igf1r |
insulin-like growth factor 1 receptor |
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ISO |
mRNA and protein: increased expression::poor prognosis for high expression |
RGD |
PMID:15867218 |
RGD:7242847 |
NCBI chr 1:121,549,839...121,838,545
Ensembl chr 1:121,550,743...121,831,777
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G |
Men1 |
menin 1 |
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ISO |
DNA:mutations: : CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:17961653 PMID:15944766 |
RGD:2317354 |
NCBI chr 1:203,638,905...203,644,871
Ensembl chr 1:203,639,000...203,644,871
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G |
Met |
MET proto-oncogene, receptor tyrosine kinase |
severity |
ISO |
associated with Zollinger-Ellison Syndrome; mRNA:increased expression:tumor (human) |
RGD |
PMID:12114431 |
RGD:2317605 |
NCBI chr 4:45,790,456...45,898,139
Ensembl chr 4:45,790,791...45,897,876
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G |
Mgmt |
O-6-methylguanine-DNA methyltransferase |
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ISO |
DNA:hypomethylation:promoter (human) |
RGD |
PMID:17278096 |
RGD:2317340 |
NCBI chr 1:191,710,980...191,937,760
Ensembl chr 1:191,710,930...191,937,756
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G |
Slc2a2 |
solute carrier family 2 member 2 |
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ISO |
mRNA:decreased expression:pancreatic islet |
RGD |
PMID:12114701 PMID:8421107 |
RGD:2324976, RGD:2324977 |
NCBI chr 2:111,609,798...111,639,930
Ensembl chr 2:111,611,774...111,639,933
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G |
Atm |
ATM serine/threonine kinase |
disease_progression |
ISO |
associated with Neoplasm Metastasis;mRNA, protein: decreased expression:gastrointestinal system, multiple (human) |
RGD |
PMID:22485171 |
RGD:150340716 |
NCBI chr 8:53,828,741...53,932,773
Ensembl chr 8:53,831,093...53,932,437
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G |
Atrx |
ATRX, chromatin remodeler |
severity |
ISO |
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RGD |
PMID:26026117 |
RGD:127285385 |
NCBI chr X:70,850,981...70,997,330
Ensembl chr X:70,850,981...70,997,330
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G |
Cd53 |
Cd53 molecule |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29915428 |
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NCBI chr 2:194,352,139...194,399,668
Ensembl chr 2:194,352,139...194,399,657
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G |
Cd86 |
CD86 molecule |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29915428 |
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NCBI chr11:64,142,193...64,200,816
Ensembl chr11:64,163,828...64,200,818
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G |
Ciita |
class II, major histocompatibility complex, transactivator |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29915428 |
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NCBI chr10:5,139,947...5,187,493
Ensembl chr10:5,140,178...5,187,440
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G |
Cxcr4 |
C-X-C motif chemokine receptor 4 |
severity |
ISO |
protein:increased expression:colon (human) |
RGD |
PMID:26259237 |
RGD:11530617 |
NCBI chr13:40,077,976...40,081,883
Ensembl chr13:40,077,976...40,081,883
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G |
Daxx |
death-domain associated protein |
severity |
ISO |
|
RGD |
PMID:26026117 |
RGD:127285385 |
NCBI chr20:4,970,090...4,976,145
Ensembl chr20:4,970,092...4,975,843
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G |
Eomes |
eomesodermin |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29915428 |
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NCBI chr 8:118,181,340...118,189,186
Ensembl chr 8:118,181,777...118,188,316
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G |
Gata3 |
GATA binding protein 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29915428 |
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NCBI chr17:68,643,760...68,666,000
Ensembl chr17:68,643,873...68,665,391
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G |
Gfi1 |
growth factor independent 1 transcriptional repressor |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29915428 |
|
NCBI chr14:2,040,576...2,056,874
Ensembl chr14:2,042,434...2,051,814
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G |
Ikzf1 |
IKAROS family zinc finger 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29915428 |
|
NCBI chr14:86,255,065...86,340,839
Ensembl chr14:86,255,065...86,342,416
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G |
Ikzf3 |
IKAROS family zinc finger 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29915428 |
|
NCBI chr10:83,460,564...83,553,591
Ensembl chr10:83,465,745...83,553,591
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G |
Il10 |
interleukin 10 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29915428 |
|
NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
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G |
Il2rb |
interleukin 2 receptor subunit beta |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29915428 |
|
NCBI chr 7:110,033,341...110,048,054
Ensembl chr 7:110,033,341...110,048,054
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G |
Notch2 |
notch receptor 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29915428 |
|
NCBI chr 2:185,610,594...185,744,088
Ensembl chr 2:185,610,589...185,744,088
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G |
Pou2f2 |
POU class 2 homeobox 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29915428 |
|
NCBI chr 1:80,682,330...80,769,756
Ensembl chr 1:80,685,741...80,724,261
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G |
Ptprc |
protein tyrosine phosphatase, receptor type, C |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29915428 |
|
NCBI chr13:49,596,193...49,708,283
Ensembl chr13:49,596,193...49,708,692
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G |
Runx3 |
RUNX family transcription factor 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29915428 |
|
NCBI chr 5:147,393,926...147,419,161
Ensembl chr 5:147,360,994...147,419,156
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G |
Serpina1 |
serpin family A member 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29915428 |
|
NCBI chr 6:122,866,314...122,888,339
Ensembl chr 6:122,866,312...122,888,339
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|
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G |
Braf |
B-Raf proto-oncogene, serine/threonine kinase |
|
ISO |
DNA:missense mutation:exon:p.V600E (human) |
RGD |
PMID:19289622 |
RGD:2315865 |
NCBI chr 4:68,375,484...68,510,652
Ensembl chr 4:68,384,649...68,510,463
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G |
Ccnd2 |
cyclin D2 |
|
ISO |
|
RGD |
PMID:17167184 |
RGD:2296039 |
NCBI chr 4:159,966,883...159,989,261
Ensembl chr 4:159,962,363...159,989,495
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G |
Cdkn2a |
cyclin-dependent kinase inhibitor 2A |
|
ISO |
DNA:transition:exon:142G>A |
RGD |
PMID:9554401 |
RGD:2289698 |
NCBI chr 5:103,984,949...103,992,143
Ensembl chr 5:103,984,949...104,003,149
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G |
Cdkn2a_v1 |
cyclin-dependent kinase inhibitor 2A, variant 1 |
|
ISO |
DNA:transition:exon:142G>A |
RGD |
PMID:9554401 |
RGD:2289698 |
|
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G |
Cdkn2a_v2 |
cyclin-dependent kinase inhibitor 2A, variant 2 |
|
ISO |
DNA:transition:exon:142G>A |
RGD |
PMID:9554401 |
RGD:2289698 |
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G |
Mgp |
matrix Gla protein |
|
ISO |
|
RGD |
PMID:1399132 |
RGD:2293578 |
NCBI chr 4:169,766,290...169,769,612
Ensembl chr 4:169,766,279...169,769,667
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G |
Pdpn |
podoplanin |
|
ISO |
|
RGD |
PMID:16718353 |
RGD:2292236 |
NCBI chr 5:155,601,691...155,635,656
Ensembl chr 5:155,601,691...155,635,656
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G |
Ptch1 |
patched 1 |
|
ISO |
ClinVar Annotator: match by term: Germinoma |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr17:1,542,705...1,607,730
Ensembl chr17:1,542,877...1,607,333
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G |
Actr3 |
actin related protein 3 |
|
ISO |
mRNA:increased expression:brain (human) |
RGD |
PMID:25682201 |
RGD:11570557 |
NCBI chr13:36,800,739...36,843,837
Ensembl chr13:36,800,093...36,844,124
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|
G |
Adgrb1 |
adhesion G protein-coupled receptor B1 |
treatment |
ISO |
mRNA:decreased expression:brain: |
RGD |
PMID:16244591 PMID:12507886 |
RGD:13831352, RGD:13831355 |
NCBI chr 7:106,404,844...106,476,902
Ensembl chr 7:106,404,958...106,476,902
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G |
Adgrl4 |
adhesion G protein-coupled receptor L4 |
treatment severity |
ISO IEP |
|
RGD |
PMID:27416955 PMID:23096411 PMID:23096411 |
RGD:13838664, RGD:13838665, RGD:13838665 |
NCBI chr 2:240,354,909...240,457,231
Ensembl chr 2:240,354,941...240,457,225
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G |
Akt1 |
AKT serine/threonine kinase 1 |
|
ISO |
|
RGD |
PMID:10802656 |
RGD:734543 |
NCBI chr 6:131,713,716...131,735,319
Ensembl chr 6:131,713,720...131,733,921
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G |
Akt3 |
AKT serine/threonine kinase 3 |
disease_progression |
ISO |
|
RGD |
PMID:27422127 |
RGD:13674164 |
NCBI chr13:88,943,708...89,225,831
Ensembl chr13:88,946,091...89,225,708
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G |
Apc |
APC regulator of WNT signaling pathway |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:7661930 |
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NCBI chr18:25,828,558...25,925,511
Ensembl chr18:25,864,222...25,922,696
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G |
Aspm |
assembly factor for spindle microtubules |
|
ISO |
mRNA:increased expression:brain: |
RGD |
PMID:18636190 |
RGD:13439742 |
NCBI chr13:51,074,849...51,123,755
Ensembl chr13:51,074,849...51,123,755
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G |
Atm |
ATM serine/threonine kinase |
|
ISO |
ClinVar Annotator: match by term: Glioblastoma |
ClinVar |
PMID:9054948 PMID:19781682 PMID:23322442 PMID:25525159 PMID:25741868 PMID:26467025 More...
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NCBI chr 8:53,828,741...53,932,773
Ensembl chr 8:53,831,093...53,932,437
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G |
Atrx |
ATRX, chromatin remodeler |
disease_progression |
ISO |
ClinVar Annotator: match by term: Glioblastoma multiforme, somatic |
ClinVar RGD |
PMID:27478330 |
RGD:13442489 |
NCBI chr X:70,850,981...70,997,330
Ensembl chr X:70,850,981...70,997,330
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G |
Bag3 |
BAG cochaperone 3 |
treatment |
IMP |
|
RGD |
PMID:21561597 |
RGD:5687132 |
NCBI chr 1:183,103,038...183,126,862
Ensembl chr 1:183,102,871...183,126,858
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G |
Bche |
butyrylcholinesterase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:2317787 |
|
NCBI chr 2:158,308,674...158,401,148
Ensembl chr 2:158,307,584...158,401,148
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G |
Becn1 |
beclin 1 |
disease_progression |
ISO |
|
RGD |
PMID:20863706 |
RGD:6483102 |
NCBI chr10:86,231,387...86,246,742
Ensembl chr10:86,231,388...86,246,742
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G |
Bhlhe40 |
basic helix-loop-helix family, member e40 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23582323 |
|
NCBI chr 4:141,618,453...141,624,154
Ensembl chr 4:141,618,476...141,624,774
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G |
Bmi1 |
BMI1 proto-oncogene, polycomb ring finger |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19823589 |
|
NCBI chr17:81,332,175...81,341,625
Ensembl chr17:81,332,214...81,388,690
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G |
Braf |
B-Raf proto-oncogene, serine/threonine kinase |
|
ISO |
ClinVar Annotator: match by term: Glioblastoma |
ClinVar |
PMID:12068308 PMID:12198537 PMID:12447372 PMID:12460918 PMID:12460919 PMID:12619120 PMID:12644542 PMID:12670889 PMID:12794760 PMID:12960123 PMID:14513361 PMID:14602780 PMID:14679157 PMID:15001635 PMID:15035987 PMID:15126572 PMID:15181070 PMID:15342696 PMID:15356022 PMID:15386408 PMID:15687339 PMID:15998781 PMID:16015629 PMID:16174717 PMID:16187918 PMID:16439621 PMID:16474404 PMID:16772349 PMID:16825433 PMID:17374713 PMID:17488796 PMID:17785355 PMID:18039235 PMID:18398503 PMID:18413255 PMID:19001320 PMID:19010912 PMID:19018267 PMID:19238210 PMID:19376813 PMID:19404918 PMID:19537845 PMID:19561230 PMID:19571295 PMID: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:31277584 PMID:31779674 PMID:31891627 PMID:34476331 More...
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NCBI chr 4:68,375,484...68,510,652
Ensembl chr 4:68,384,649...68,510,463
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G |
Brd2 |
bromodomain containing 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27388964 |
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NCBI chr20:4,727,078...4,735,389
Ensembl chr20:4,728,151...4,735,388
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G |
Brd4 |
bromodomain containing 4 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26455392 PMID:27388964 |
|
NCBI chr 7:11,216,446...11,296,029
Ensembl chr 7:11,216,446...11,295,539
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G |
Brd7 |
bromodomain containing 7 |
|
ISO |
protein:increased expression:brain: |
RGD |
PMID:24404152 |
RGD:9586441 |
NCBI chr19:18,708,792...18,737,500
Ensembl chr19:18,709,022...18,737,494
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G |
Cbx6 |
chromobox 6 |
disease_progression |
ISO |
mRNA,protein:decreased expression:astrocyte: |
RGD |
PMID:24260522 |
RGD:9587354 |
NCBI chr 7:111,372,979...111,383,109
Ensembl chr 7:111,372,980...111,383,091
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G |
Cbx7 |
chromobox 7 |
disease_progression |
ISO |
mRNA,protein:decreased expression:astrocyte: |
RGD |
PMID:24260522 |
RGD:9587354 |
NCBI chr 7:111,460,656...111,479,231
Ensembl chr 7:111,460,656...111,477,973
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G |
Cbx8 |
chromobox 8 |
|
ISO |
mRNA:increased expression:astrocyte: |
RGD |
PMID:24260522 |
RGD:9587354 |
NCBI chr10:104,294,518...104,296,956
Ensembl chr10:104,294,518...104,297,024
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G |
Ccnh |
cyclin H |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30705370 |
|
NCBI chr 2:15,834,833...15,855,643
Ensembl chr 2:15,834,833...15,855,819
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G |
Cd9 |
CD9 molecule |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26573230 |
|
NCBI chr 4:158,256,328...158,289,136
Ensembl chr 4:158,256,328...158,289,222
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G |
Cdk4 |
cyclin-dependent kinase 4 |
|
ISO |
DNA:amplication |
RGD |
PMID:23796897 |
RGD:13702089 |
NCBI chr 7:62,885,647...62,889,562
Ensembl chr 7:62,883,105...62,942,403
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G |
Cdk6 |
cyclin-dependent kinase 6 |
severity |
ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:20534551 PMID:10884881 |
RGD:13702095 |
NCBI chr 4:30,637,650...30,829,688
Ensembl chr 4:30,646,460...30,829,634
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G |
Cdkn2a |
cyclin-dependent kinase inhibitor 2A |
treatment |
ISO |
|
RGD |
PMID:10720483 |
RGD:8552659 |
NCBI chr 5:103,984,949...103,992,143
Ensembl chr 5:103,984,949...104,003,149
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G |
Cdkn2a_v1 |
cyclin-dependent kinase inhibitor 2A, variant 1 |
treatment |
ISO |
|
RGD |
PMID:10720483 |
RGD:8552659 |
|
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G |
Chaf1b |
chromatin assembly factor 1 subunit B |
|
ISO |
protein:increased expression:brain: |
RGD |
PMID:24039914 |
RGD:9587472 |
NCBI chr11:33,200,894...33,221,076
Ensembl chr11:33,200,981...33,221,070
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G |
Chi3l1 |
chitinase 3 like 1 |
|
ISO |
mRNA:increased expression:brain, tumor (human) CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:21029458 PMID:11161003 |
RGD:4892621 |
NCBI chr13:45,641,802...45,649,787
Ensembl chr13:45,641,802...45,649,787
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G |
Cpeb1 |
cytoplasmic polyadenylation element binding protein 1 |
disease_progression |
IMP |
|
RGD |
PMID:23360795 |
RGD:9685152 |
NCBI chr 1:135,300,048...135,407,688
Ensembl chr 1:135,300,461...135,409,760
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G |
Crebbp |
CREB binding protein |
|
ISO |
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 chr10:11,335,551...11,461,888
Ensembl chr10:11,335,953...11,461,888
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G |
Csta |
cystatin A |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22287159 |
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NCBI chr11:64,620,483...64,631,488
Ensembl chr11:64,620,483...64,631,488
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G |
Cstb |
cystatin B |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22287159 |
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NCBI chr20:10,245,462...10,247,505
Ensembl chr20:10,245,462...10,247,526
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G |
Ctnnd2 |
catenin delta 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23917401 |
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NCBI chr 2:81,168,976...82,016,495
Ensembl chr 2:81,167,117...82,015,764
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G |
Ctsb |
cathepsin B |
|
ISO |
protein:increased expression:glioma cell (human) CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:22287159 PMID:17898873 |
RGD:2315515 |
NCBI chr15:37,389,636...37,410,508
Ensembl chr15:37,389,629...37,410,500
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G |
Ctsh |
cathepsin H |
|
ISO |
protein:increased expression:brain |
RGD |
PMID:8640738 |
RGD:1549417 |
NCBI chr 8:90,608,941...90,627,824
Ensembl chr 8:90,608,941...90,627,824
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G |
Ctsk |
cathepsin K |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25356585 |
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NCBI chr 2:183,058,586...183,069,551
Ensembl chr 2:183,058,569...183,069,550
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G |
Deup1 |
deuterosome assembly protein 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30705370 |
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NCBI chr 8:12,380,300...12,442,649
Ensembl chr 8:12,380,302...12,442,199
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G |
Dmbt1 |
deleted in malignant brain tumors 1 |
|
ISO |
DNA:deletion |
RGD |
PMID:9288095 |
RGD:1599778 |
NCBI chr 1:185,617,469...185,696,476
Ensembl chr 1:185,617,294...185,696,478
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G |
Dnmt3a |
DNA methyltransferase 3 alpha |
|
ISO |
ClinVar Annotator: match by term: Glioblastoma |
ClinVar |
|
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NCBI chr 6:26,791,517...26,902,161
Ensembl chr 6:26,822,609...26,896,687
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G |
Dusp6 |
dual specificity phosphatase 6 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21499306 |
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NCBI chr 7:34,092,848...34,097,186
Ensembl chr 7:34,092,943...34,097,185
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G |
E2f1 |
E2F transcription factor 1 |
disease_progression |
ISO |
|
RGD |
PMID:16264179 |
RGD:13702471 |
NCBI chr 3:143,064,535...143,075,362
Ensembl chr 3:143,049,478...143,075,361
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G |
Egf |
epidermal growth factor |
susceptibility |
ISO |
CTD Direct Evidence: marker/mechanism DNA:polymorphism:promoter:+61A>G(human) |
CTD RGD |
PMID:16598420 PMID:22481252 |
RGD:13702472 |
NCBI chr 2:218,219,408...218,302,370
Ensembl chr 2:218,219,415...218,302,064
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G |
Egfr |
epidermal growth factor receptor |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Glioblastoma | ClinVar Annotator: match by term: Glioblastoma multiforme, somatic |
CTD ClinVar |
PMID:2302402 PMID:15118073 PMID:15118125 PMID:15329413 PMID:15710947 PMID:15738541 PMID:16011858 PMID:16115929 PMID:17177598 PMID:18199554 PMID:18458038 PMID:19204207 PMID:19536777 PMID:19671738 PMID:19922469 PMID:20479403 PMID:21531810 PMID:21841502 PMID:22753918 PMID:23102728 PMID:23242437 PMID:23917401 PMID:23945392 PMID:24033266 PMID:25157968 PMID:26455392 PMID:26619011 PMID:31396478 More...
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NCBI chr14:91,176,931...91,349,722
Ensembl chr14:91,177,067...91,344,382
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G |
Enpp1 |
ectonucleotide pyrophosphatase/phosphodiesterase 1 |
severity |
ISO |
protein:increased expression:brain (human) |
RGD |
PMID:21195542 |
RGD:13204719 |
NCBI chr 1:20,698,746...20,763,741
Ensembl chr 1:20,698,764...20,763,715
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G |
Ezh2 |
enhancer of zeste 2 polycomb repressive complex 2 subunit |
treatment |
ISO |
|
RGD |
PMID:25595591 |
RGD:14928319 |
NCBI chr 4:76,624,399...76,687,362
Ensembl chr 4:76,624,399...76,687,362
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G |
Fabp7 |
fatty acid binding protein 7 |
severity |
ISO |
mRNA, protein:increased expression:brain (human) |
RGD |
PMID:15827123 |
RGD:1578468 |
NCBI chr20:37,123,193...37,126,725
Ensembl chr20:37,123,193...37,126,880
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G |
Fat1 |
FAT atypical cadherin 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23354438 |
|
NCBI chr16:47,177,253...47,296,261
Ensembl chr16:47,177,248...47,296,107
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G |
Fbxw7 |
F-box and WD repeat domain containing 7 |
|
ISO |
ClinVar Annotator: match by term: Glioblastoma |
ClinVar |
PMID:26619011 |
|
NCBI chr 2:170,150,552...170,310,698
Ensembl chr 2:170,149,694...170,309,941
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G |
Fgfr1 |
Fibroblast growth factor receptor 1 |
|
ISO |
ClinVar Annotator: match by term: Glioblastoma |
ClinVar |
PMID:25705862 PMID:26619011 PMID:26942290 PMID:33448156 |
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NCBI chr16:66,492,445...66,546,731
Ensembl chr16:66,494,042...66,547,350
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G |
Flt3lg |
Fms related receptor tyrosine kinase 3 ligand |
treatment |
ISO |
|
RGD |
PMID:18079358 |
RGD:11049502 |
NCBI chr 1:95,615,056...95,620,463
Ensembl chr 1:95,609,370...95,620,463
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G |
Fn1 |
fibronectin 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17099729 |
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NCBI chr 9:73,196,044...73,264,695
Ensembl chr 9:73,196,044...73,264,678
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G |
Fosl2 |
FOS like 2, AP-1 transcription factor subunit |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23582323 |
|
NCBI chr 6:24,297,898...24,319,157
Ensembl chr 6:24,300,956...24,320,034
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G |
Gdnf |
glial cell derived neurotrophic factor |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19138852 |
|
NCBI chr 2:56,893,992...56,919,935
Ensembl chr 2:56,895,010...56,917,209
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G |
Grik2 |
glutamate ionotropic receptor kainate type subunit 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30705370 |
|
NCBI chr20:52,135,325...52,833,061
Ensembl chr20:52,133,851...52,838,375
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G |
Gstt1 |
glutathione S-transferase theta 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16874663 |
|
NCBI chr20:12,856,613...12,873,586
Ensembl chr20:12,856,669...12,873,585
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G |
H2ax |
H2A.X variant histone |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26651356 |
|
NCBI chr 8:44,671,927...44,673,257
Ensembl chr 8:44,671,786...44,673,239
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|
G |
H3f3a |
H3.3 histone A |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Glioblastoma |
CTD ClinVar |
PMID:22286216 PMID:23817572 PMID:26619011 PMID:26822237 |
|
NCBI chr13:92,533,294...92,544,903
Ensembl chr13:92,533,298...92,544,908
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G |
Heatr1 |
HEAT repeat containing 1 |
|
ISO |
mRNA, protein:increased expression:brain |
RGD |
PMID:25126583 |
RGD:10761721 |
NCBI chr17:58,051,700...58,093,895
Ensembl chr17:58,051,700...58,093,948
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G |
Hes1 |
hes family bHLH transcription factor 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21127729 |
|
NCBI chr11:70,705,763...70,708,176
Ensembl chr11:70,705,764...70,708,192
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G |
Hey1 |
hes-related family bHLH transcription factor with YRPW motif 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21127729 |
|
NCBI chr 2:93,096,706...93,100,316
Ensembl chr 2:93,095,498...93,100,312
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G |
Hif1a |
hypoxia inducible factor 1 subunit alpha |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:12811834 |
|
NCBI chr 6:92,624,059...92,669,262
Ensembl chr 6:92,624,390...92,669,261
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G |
Hoxd10 |
homeo box D10 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:34737577 |
|
NCBI chr 3:59,594,516...59,597,725
Ensembl chr 3:59,594,516...59,597,725
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G |
Hras |
HRas proto-oncogene, GTPase |
severity |
ISO |
DNA:missense mutation:cds:p.G61L(human) ClinVar Annotator: match by term: Glioblastoma |
ClinVar RGD |
PMID:11150980 PMID:16155195 PMID:16170316 PMID:16329078 PMID:16372351 PMID:16443854 PMID:16835863 PMID:16881968 PMID:16969868 PMID:17054105 PMID:17412879 PMID:17979197 PMID:18039947 PMID:18247425 PMID:18978862 PMID:19206176 PMID:19371735 PMID:19382114 PMID:19669404 PMID:20660566 PMID:21686750 PMID:21850009 PMID:22087699 PMID:22317973 PMID:22495892 PMID:22499344 PMID:22683711 PMID:22926243 PMID:23093928 PMID:23429430 PMID:24033266 PMID:24129065 PMID:24169525 PMID:24224811 PMID:24803665 PMID:25157968 PMID:25741868 PMID:25914166 PMID:26619011 PMID:27195699 PMID:27589201 PMID:28139825 PMID:28492532 PMID:29493581 PMID:31394527 PMID:31775759 PMID:34008892 PMID:20879984 PMID:19179066 More...
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RGD:13702475, RGD:13702872 |
NCBI chr 1:196,290,127...196,299,823
Ensembl chr 1:196,296,263...196,300,615
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G |
Idh1 |
isocitrate dehydrogenase (NADP(+)) 1 |
disease_progression onset |
ISO |
DNA:mutation:cds:p.R132(human) ClinVar Annotator: match by term: Glioblastoma | ClinVar Annotator: match by term: Glioblastoma, somatic DNA:mutation:cds:p.R132H(human) |
ClinVar RGD |
PMID:18772396 PMID:19657110 PMID:19798509 PMID:19818334 PMID:20946881 PMID:21352804 PMID:21446021 PMID:22160010 PMID:22397365 PMID:22417203 PMID:22898539 PMID:23558169 PMID:24606448 PMID:25043048 PMID:25157968 PMID:25741868 PMID:26619011 PMID:27993330 PMID:30231226 PMID:25495392 PMID:19765000 More...
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RGD:11074562, RGD:11522732 |
NCBI chr 9:66,534,146...66,563,703
Ensembl chr 9:66,534,146...66,563,708
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G |
Il16 |
interleukin 16 |
|
IEP |
protein:increased expression:brain |
RGD |
PMID:17221335 |
RGD:5024941 |
NCBI chr 1:137,617,702...137,718,022
Ensembl chr 1:137,617,944...137,718,130
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G |
Il1b |
interleukin 1 beta |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16356833 |
|
NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
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G |
Il2 |
interleukin 2 |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:7719933 |
|
NCBI chr 2:120,004,862...120,009,566
Ensembl chr 2:120,004,862...120,009,566
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|
G |
Jag1 |
jagged canonical Notch ligand 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21127729 |
|
NCBI chr 3:124,406,794...124,442,220
Ensembl chr 3:124,406,794...124,442,209
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G |
Jag2 |
jagged canonical Notch ligand 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21127729 |
|
NCBI chr 6:131,983,056...132,005,359
Ensembl chr 6:131,983,056...132,005,818
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G |
Kcnc2 |
potassium voltage-gated channel subfamily C member 2 |
|
ISO |
mRNA:splice variant (human) |
RGD |
PMID:18474104 |
RGD:9686067 |
NCBI chr 7:47,700,035...47,883,979
Ensembl chr 7:47,700,288...47,883,968
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G |
Kdr |
kinase insert domain receptor |
treatment |
ISO |
|
RGD |
PMID:26325365 |
RGD:11529678 |
NCBI chr14:32,217,871...32,261,018
Ensembl chr14:32,217,871...32,261,018
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G |
Kras |
KRAS proto-oncogene, GTPase |
treatment |
ISO |
mRNA:decreased expression:brain |
RGD |
PMID:16166301 PMID:19179066 |
RGD:13702861, RGD:13702872 |
NCBI chr 4:178,185,418...178,218,484
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G |
L1cam |
L1 cell adhesion molecule |
|
ISO |
mRNA:decreased expression:brain, temporal lobe (human) |
RGD |
PMID:20419098 |
RGD:6483067 |
NCBI chr X:151,597,270...151,623,776
Ensembl chr X:151,597,277...151,623,857
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G |
Lrrc56 |
leucine rich repeat containing 56 |
|
ISO |
ClinVar Annotator: match by term: Glioblastoma |
ClinVar |
PMID:11150980 PMID:16155195 PMID:16170316 PMID:16329078 PMID:16372351 PMID:16443854 PMID:16835863 PMID:16881968 PMID:16969868 PMID:17054105 PMID:17412879 PMID:17979197 PMID:18039947 PMID:18247425 PMID:18978862 PMID:19206176 PMID:19371735 PMID:19382114 PMID:19669404 PMID:20660566 PMID:21686750 PMID:21850009 PMID:22087699 PMID:22317973 PMID:22495892 PMID:22499344 PMID:22683711 PMID:22926243 PMID:23093928 PMID:23429430 PMID:24033266 PMID:24129065 PMID:24169525 PMID:24224811 PMID:24803665 PMID:25157968 PMID:25741868 PMID:25914166 PMID:26619011 PMID:27195699 PMID:27589201 PMID:28139825 PMID:28492532 PMID:29493581 PMID:31394527 PMID:31775759 PMID:34008892 More...
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NCBI chr 1:196,299,843...196,315,170
Ensembl chr 1:196,299,846...196,315,172
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G |
Lrrc59 |
leucine rich repeat containing 59 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30705370 |
|
NCBI chr10:79,572,295...79,586,953
Ensembl chr10:79,572,317...79,602,533
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G |
Ltbp4 |
latent transforming growth factor beta binding protein 4 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27270107 |
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NCBI chr 1:82,600,136...82,634,346
Ensembl chr 1:82,600,136...82,632,178
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G |
Lztr1 |
leucine-zipper-like transcription regulator 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism DNA:mutations:multiple (human) |
CTD RGD |
PMID:23917401 PMID:23917401 |
RGD:151708722 |
NCBI chr11:83,487,717...83,503,896
Ensembl chr11:83,487,717...83,503,633
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G |
Macir |
macrophage immunometabolism regulator |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30705370 |
|
NCBI chr 9:98,420,760...98,440,818
Ensembl chr 9:98,420,376...98,441,733
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G |
Map1lc3a |
microtubule-associated protein 1 light chain 3 alpha |
treatment |
ISO |
|
RGD |
PMID:24905460 |
RGD:11561946 |
NCBI chr 3:143,783,024...143,784,670
Ensembl chr 3:143,783,024...143,784,670
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G |
Map2k2 |
mitogen activated protein kinase kinase 2 |
treatment |
ISO |
|
RGD |
PMID:26189368 |
RGD:13702862 |
NCBI chr 7:8,590,729...8,610,279
Ensembl chr 7:8,580,905...8,610,243
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G |
Map2k3 |
mitogen activated protein kinase kinase 3 |
disease_progression |
ISO |
protein:increased expression, increased phosphorylation:brain |
RGD |
PMID:17406030 |
RGD:1641940 |
NCBI chr10:45,608,145...45,629,492
Ensembl chr10:45,607,163...45,629,492
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G |
Mdm2 |
MDM2 proto-oncogene |
|
ISO |
DNA:amplication |
RGD |
PMID:23796897 |
RGD:13702089 |
NCBI chr 7:53,290,660...53,315,205
Ensembl chr 7:53,290,664...53,314,915
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G |
Mdm4 |
MDM4 regulator of p53 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20472715 |
|
NCBI chr13:44,432,596...44,516,165
Ensembl chr13:44,406,213...44,474,226
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G |
Med12 |
mediator complex subunit 12 |
|
ISO |
ClinVar Annotator: match by term: Glioblastoma |
ClinVar |
PMID:26822237 |
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NCBI chr X:66,404,622...66,427,772
Ensembl chr X:66,404,760...66,428,387
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G |
Met |
MET proto-oncogene, receptor tyrosine kinase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22162573 |
|
NCBI chr 4:45,790,456...45,898,139
Ensembl chr 4:45,790,791...45,897,876
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G |
Mgmt |
O-6-methylguanine-DNA methyltransferase |
|
ISO |
DNA:transition:cds:p.L84F (human) CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:20131314 PMID:22162573 PMID:14669534 |
RGD:2317667 |
NCBI chr 1:191,710,980...191,937,760
Ensembl chr 1:191,710,930...191,937,756
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G |
Mir21 |
microRNA 21 |
ameliorates |
IMP |
|
RGD |
PMID:31730913 |
RGD:41404645 |
NCBI chr10:71,405,257...71,405,348
Ensembl chr10:71,405,257...71,405,348
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G |
Mmp2 |
matrix metallopeptidase 2 |
severity |
ISO |
protein:increased expression:brain (human) CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:16598420 PMID:7616276 |
RGD:7207145 |
NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870
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G |
Mmp7 |
matrix metallopeptidase 7 |
severity |
ISO |
protein:increased expression:brain (human) |
RGD |
PMID:7616276 |
RGD:7207145 |
NCBI chr 8:4,848,186...4,855,908
Ensembl chr 8:4,848,186...4,855,902
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G |
Mmp9 |
matrix metallopeptidase 9 |
severity treatment |
ISO |
protein:increased expression:brain (human) CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:16598420 PMID:7616276 PMID:12439751 |
RGD:7207145, RGD:8547973 |
NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
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G |
Msh2 |
mutS homolog 2 |
|
ISO |
ClinVar Annotator: match by term: Glioblastoma |
ClinVar |
PMID:25741868 |
|
NCBI chr 6:6,813,793...6,872,960
Ensembl chr 6:6,813,795...6,872,938
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G |
Mtor |
mechanistic target of rapamycin kinase |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Glioblastoma |
CTD ClinVar |
PMID:20190810 PMID:22729223 PMID:24631838 PMID:25599672 PMID:25741868 PMID:25799227 PMID:26018084 PMID:26619011 PMID:27159400 PMID:27830187 PMID:28492532 PMID:28864461 PMID:28892148 PMID:29281825 PMID:30705370 More...
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NCBI chr 5:158,884,856...158,994,311
Ensembl chr 5:158,884,804...158,994,311
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G |
Myc |
MYC proto-oncogene, bHLH transcription factor |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21127729 |
|
NCBI chr 7:93,593,705...93,598,633
Ensembl chr 7:93,593,705...93,598,630
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G |
Mycn |
MYCN proto-oncogene, bHLH transcription factor |
|
ISO |
ClinVar Annotator: match by term: Glioblastoma |
ClinVar |
PMID:26619011 |
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NCBI chr 6:35,717,764...35,723,590
Ensembl chr 6:35,717,764...35,723,590
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G |
Ncor1 |
nuclear receptor co-repressor 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17312396 |
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NCBI chr10:46,999,536...47,142,294
Ensembl chr10:46,999,536...47,141,032
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G |
Ndrg1 |
N-myc downstream regulated 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15341671 |
|
NCBI chr 7:98,684,487...98,725,869
Ensembl chr 7:98,684,487...98,725,880
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G |
Ndrg4 |
NDRG family member 4 |
|
ISO |
mRNA, protein:decreased expression:brain |
RGD |
PMID:22489821 |
RGD:7247726 |
NCBI chr19:9,351,408...9,387,398
Ensembl chr19:9,351,404...9,386,914
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G |
Nf1 |
neurofibromin 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25119042 |
|
NCBI chr10:64,306,027...64,539,112
Ensembl chr10:64,306,301...64,536,658
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G |
Nfkbia |
NFKB inhibitor alpha |
treatment |
ISO |
human cell line in a mouse model |
RGD |
PMID:15692608 |
RGD:127285387 |
NCBI chr 6:72,858,713...72,861,941
Ensembl chr 6:72,858,712...72,861,941
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G |
Notch1 |
notch receptor 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21127729 |
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NCBI chr 3:9,277,955...9,323,531
Ensembl chr 3:9,278,086...9,323,531
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G |
Notch2 |
notch receptor 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21127729 |
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NCBI chr 2:185,610,594...185,744,088
Ensembl chr 2:185,610,589...185,744,088
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G |
Notch3 |
notch receptor 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21127729 |
|
NCBI chr 7:11,132,984...11,184,025
Ensembl chr 7:11,133,706...11,184,025
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G |
Nras |
NRAS proto-oncogene, GTPase |
|
ISO |
DNA:mutation:cds:c.35G>A, p.G12D(human) ClinVar Annotator: match by term: Glioblastoma DNA:amplication:: |
ClinVar RGD |
PMID:1654209 PMID:2278970 PMID:2674680 PMID:3122217 PMID:6587382 PMID:8120410 PMID:10821536 PMID:12460918 PMID:12727991 PMID:14508525 PMID:15899789 PMID:16273091 PMID:16291983 PMID:16434492 PMID:17699718 PMID:18390968 PMID:18633438 PMID:18668139 PMID:18948947 PMID:19075190 PMID:19657110 PMID:19880792 PMID:20130576 PMID:20149136 PMID:20179705 PMID:20406486 PMID:20619739 PMID:20736745 PMID:21107323 PMID:21305640 PMID:21576590 PMID:21729679 PMID:21829508 PMID:22407852 PMID:22499344 PMID:22718121 PMID:22761467 PMID:22773810 PMID:23076151 PMID:23392294 PMID:23400451 PMID:23414587 PMID:23515407 PMID:23538902 PMID:23569304 PMID:23614898 PMID:24006476 PMID:24033266 PMID:24148783 PMID:24370118 PMID:24671188 PMID:25157968 PMID:25348872 PMID:25695684 PMID:25741868 PMID:26619011 PMID:26821351 PMID:27050078 PMID:28492532 PMID:28780248 PMID:15517309 PMID:11351043 More...
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RGD:13702875, RGD:13702876 |
NCBI chr 2:190,582,885...190,593,509
Ensembl chr 2:190,582,918...190,591,626
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G |
Pdgfb |
platelet derived growth factor subunit B |
|
ISO |
|
RGD |
PMID:21210235 |
RGD:6482799 |
NCBI chr 7:111,539,444...111,557,984
Ensembl chr 7:111,540,345...111,557,984
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G |
Pdgfrb |
platelet derived growth factor receptor beta |
treatment |
ISO |
|
RGD |
PMID:24566984 |
RGD:13702903 |
NCBI chr18:54,500,002...54,538,843
Ensembl chr18:54,499,964...54,538,843
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G |
Pdpn |
podoplanin |
|
ISO |
|
RGD |
PMID:16979138 |
RGD:2292241 |
NCBI chr 5:155,601,691...155,635,656
Ensembl chr 5:155,601,691...155,635,656
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G |
Pecam1 |
platelet and endothelial cell adhesion molecule 1 |
|
ISO |
|
RGD |
PMID:21858729 |
RGD:6771207 |
NCBI chr10:91,590,521...91,652,279
Ensembl chr10:91,590,521...91,652,116
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G |
Pgf |
placental growth factor |
disease_progression |
ISO |
|
RGD |
PMID:20458050 |
RGD:6483585 |
NCBI chr 6:104,816,102...104,826,685
Ensembl chr 6:104,816,104...104,826,685
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G |
Pik3ca |
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha |
|
ISO |
ClinVar Annotator: match by term: Glioblastoma |
ClinVar |
PMID:15016963 PMID:15254419 PMID:15520168 PMID:15608678 PMID:15647370 PMID:15805248 PMID:15930273 PMID:16353168 PMID:16906227 PMID:16930767 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:20619739 PMID:21078999 PMID:21430269 PMID:21558396 PMID:21824802 PMID:22162582 PMID:22162589 PMID:22209294 PMID:22271473 PMID:22357840 PMID:22370636 PMID:22658544 PMID:22729222 PMID:22729223 PMID:22729224 PMID:23066039 PMID:23100325 PMID:23246288 PMID:23408298 PMID:23888070 PMID:24033266 PMID:24265155 PMID:24559322 PMID:24782230 PMID:25157968 PMID:25599672 PMID:25741868 PMID:25880439 PMID:26266975 PMID:26266985 PMID:26619011 PMID:26627007 PMID:26637981 PMID:26822237 PMID:26851524 PMID:27283355 PMID:27626068 PMID:27631024 PMID:28151489 PMID:28425981 PMID:28492532 PMID:29661094 PMID:29988677 PMID:30376034 PMID:30543347 PMID:31536475 PMID:31568861 PMID:31775759 PMID:32778138 PMID:34008892 PMID:34496175 More...
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NCBI chr 2:115,175,275...115,249,034
Ensembl chr 2:115,174,984...115,249,032
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Pik3cb |
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta |
disease_progression |
ISO |
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RGD |
PMID:26956052 PMID:21188471 |
RGD:11343921, RGD:13782050 |
NCBI chr 8:99,594,600...99,699,772
Ensembl chr 8:99,594,644...99,699,663
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Pik3cd |
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta |
disease_progression |
ISO |
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RGD |
PMID:24523440 |
RGD:13782051 |
NCBI chr 5:160,094,952...160,142,962
Ensembl chr 5:160,094,952...160,120,930
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G |
Pik3r1 |
phosphoinositide-3-kinase regulatory subunit 1 |
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ISO |
ClinVar Annotator: match by term: Glioblastoma |
ClinVar |
PMID:19962457 PMID:25157968 PMID:26619011 |
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NCBI chr 2:32,878,942...32,963,611
Ensembl chr 2:32,882,032...32,963,631
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G |
Pim1 |
Pim-1 proto-oncogene, serine/threonine kinase |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23724780 |
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NCBI chr20:7,554,921...7,559,174
Ensembl chr20:7,554,921...7,559,174
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G |
Pml |
PML nuclear body scaffold |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23440206 |
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NCBI chr 8:58,627,347...58,661,927
Ensembl chr 8:58,628,837...58,658,971
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G |
Pole |
DNA polymerase epsilon, catalytic subunit |
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ISO |
ClinVar Annotator: match by term: Glioblastoma |
ClinVar |
PMID:25228659 PMID:26619011 PMID:29352080 |
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NCBI chr12:46,345,420...46,393,984
Ensembl chr12:46,345,420...46,393,939
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Polk |
DNA polymerase kappa |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26651356 |
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NCBI chr 2:27,822,228...27,882,331
Ensembl chr 2:27,822,679...27,882,313
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Pparg |
peroxisome proliferator-activated receptor gamma |
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ISO |
ClinVar Annotator: match by term: Glioblastoma, somatic |
ClinVar |
PMID:9467001 PMID:10381354 PMID:10523018 PMID:10690291 PMID:10851250 PMID:14569127 PMID:14616762 PMID:14671186 PMID:28492532 More...
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NCBI chr 4:148,423,102...148,548,471
Ensembl chr 4:148,423,194...148,548,468
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G |
Prkn |
parkin RBR E3 ubiquitin protein ligase |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19946270 |
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NCBI chr 1:48,688,651...49,882,520
Ensembl chr 1:48,690,556...49,882,555
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Prom1 |
prominin 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18679414 PMID:18829568 PMID:19718438 |
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NCBI chr14:66,989,545...67,094,534
Ensembl chr14:66,990,160...67,094,527
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Pten |
phosphatase and tensin homolog |
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ISO |
ClinVar Annotator: match by term: Glioblastoma |
ClinVar RGD |
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: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:20453058 PMID:20619739 PMID:20881644 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:26619011 PMID:26773036 PMID:26798346 PMID:27426521 PMID:27477328 PMID:27535533 PMID:28286253 PMID:28475857 PMID:28492532 PMID:28526761 PMID:29359449 PMID:29706350 PMID:30528446 PMID:30614812 PMID:31159747 PMID:32350270 PMID:33077954 PMID:16847462 More...
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RGD:2290476 |
NCBI chr 1:230,631,303...230,696,754
Ensembl chr 1:230,630,338...230,696,838
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Ptgs1 |
prostaglandin-endoperoxide synthase 1 |
disease_progression |
ISO IEP |
protein:increased expression:microglia, macrophage, |
RGD |
PMID:11121536 PMID:10229132 |
RGD:5688245, RGD:5688250 |
NCBI chr 3:19,584,015...19,605,589
Ensembl chr 3:19,584,015...19,605,586
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Ptgs2 |
prostaglandin-endoperoxide synthase 2 |
disease_progression |
ISO IEP |
protein:increased expression:endothelial cell |
RGD |
PMID:11121536 PMID:10229132 |
RGD:5688245, RGD:5688250 |
NCBI chr13:62,164,080...62,169,770
Ensembl chr13:62,163,932...62,172,188
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Ptk2 |
protein tyrosine kinase 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:12811834 |
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NCBI chr 7:105,126,725...105,331,848
Ensembl chr 7:105,126,728...105,331,783
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Ptn |
pleiotrophin |
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ISO |
protein:increased expression:brain (human) |
RGD |
PMID:14692702 |
RGD:151660507 |
NCBI chr 4:65,293,731...65,375,572
Ensembl chr 4:65,293,734...65,375,456
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Ptprb |
protein tyrosine phosphatase, receptor type, B |
treatment |
ISO |
human cells in mouse model protein:increased expression:brain (human) |
RGD |
PMID:16489031 PMID:15831233 PMID:14692702 |
RGD:151660504, RGD:151664746, RGD:151660507 |
NCBI chr 7:51,953,375...52,034,751
Ensembl chr 7:51,930,015...52,034,748
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Rb1 |
RB transcriptional corepressor 1 |
severity |
ISO |
DNA:hypermethylation:promoter: |
RGD |
PMID:11204276 |
RGD:13782067 |
NCBI chr15:48,371,295...48,502,473
Ensembl chr15:48,371,296...48,502,302
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Reck |
reversion-inducing-cysteine-rich protein with kazal motifs |
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ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:20127710 |
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NCBI chr 5:58,102,915...58,169,513
Ensembl chr 5:58,102,981...58,169,502
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RGD1311251 |
similar to RIKEN cDNA 4930550C14 |
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ISO |
ClinVar Annotator: match by term: Glioblastoma |
ClinVar |
PMID:9054948 PMID:19781682 PMID:23322442 PMID:25525159 PMID:25741868 PMID:26467025 More...
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NCBI chr 8:53,796,033...53,825,277
Ensembl chr 8:53,796,366...53,824,748
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Rpl35a |
ribosomal protein L35A |
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ISO |
mRNA:increased expression:brain (human) |
RGD |
PMID:10880769 |
RGD:11535077 |
NCBI chr11:67,726,034...67,730,023
Ensembl chr11:67,726,032...67,729,942
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Rpl5 |
ribosomal protein L5 |
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ISO |
DNA:mutations:multiple (human) |
RGD |
PMID:26892688 |
RGD:11535147 |
NCBI chr14:1,843,856...1,850,301
Ensembl chr14:1,843,770...1,850,290
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Runx1 |
RUNX family transcription factor 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23582323 |
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NCBI chr11:31,839,880...32,074,427
Ensembl chr11:31,843,764...32,074,542
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Runx3 |
RUNX family transcription factor 3 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16909125 |
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NCBI chr 5:147,393,926...147,419,161
Ensembl chr 5:147,360,994...147,419,156
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Septin14 |
septin 14 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23917401 |
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NCBI chr12:26,975,283...27,005,588
Ensembl chr12:26,975,344...26,998,299
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Serping1 |
serpin family G member 1 |
treatment |
IMP |
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RGD |
PMID:28880870 |
RGD:13525003 |
NCBI chr 3:69,842,726...69,852,583
Ensembl chr 3:69,842,739...69,852,034
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G |
Slc22a22 |
solute carrier family 22 member 22 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30705370 |
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NCBI chr 7:88,720,425...88,750,111
Ensembl chr 7:88,720,427...88,750,111
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Slc7a5 |
solute carrier family 7 member 5 |
disease_progression |
ISO |
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RGD |
PMID:16496379 |
RGD:151361115 |
NCBI chr19:49,935,220...49,963,823
Ensembl chr19:49,935,220...49,963,823
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Slx4 |
SLX4 structure-specific endonuclease subunit |
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ISO |
ClinVar Annotator: match by term: Glioblastoma multiforme |
ClinVar |
PMID:25741868 |
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NCBI chr10:11,526,563...11,549,291
Ensembl chr10:11,528,424...11,549,295
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G |
Srrt |
serrate, RNA effector molecule |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30542699 |
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NCBI chr12:19,392,578...19,406,098
Ensembl chr12:19,392,625...19,406,095
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G |
Stat3 |
signal transducer and activator of transcription 3 |
disease_progression |
ISO |
mRNA, protein:increased expression:brain (human) |
RGD |
PMID:31783691 |
RGD:151667907 |
NCBI chr10:85,811,206...85,863,057
Ensembl chr10:85,811,218...85,863,057
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Stat5a |
signal transducer and activator of transcription 5A |
disease_progression treatment |
ISO |
mRNA, protein:increased expression:brain (human) human cells in mouse model |
RGD |
PMID:31783691 PMID:31783691 |
RGD:151667907, RGD:151667907 |
NCBI chr10:85,785,537...85,809,869
Ensembl chr10:85,785,537...85,809,866
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G |
Suz12 |
SUZ12 polycomb repressive complex 2 subunit |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25119042 |
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NCBI chr10:64,967,035...65,012,916
Ensembl chr10:64,966,967...65,012,738
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G |
Tes |
testin LIM domain protein |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16909125 |
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NCBI chr 4:45,365,304...45,403,829
Ensembl chr 4:45,365,285...45,403,829
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G |
Tgm2 |
transglutaminase 2 |
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ISO |
CTD Direct Evidence: marker/mechanism|therapeutic |
CTD |
PMID:16170020 PMID:17099729 |
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NCBI chr 3:146,772,684...146,801,924
Ensembl chr 3:146,772,687...146,801,981
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Tmem135 |
transmembrane protein 135 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30705370 |
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NCBI chr 1:143,006,343...143,279,824
Ensembl chr 1:143,006,344...143,221,171
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Tnc |
tenascin C |
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ISO |
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RGD |
PMID:16928692 |
RGD:4889612 |
NCBI chr 5:77,375,851...77,460,712
Ensembl chr 5:77,375,851...77,460,624
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G |
Tnfsf10 |
TNF superfamily member 10 |
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ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:21877938 |
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NCBI chr 2:110,199,835...110,227,239
Ensembl chr 2:110,207,916...110,225,135
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Tp53 |
tumor protein p53 |
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ISS ISO |
ClinVar Annotator: match by term: Glioblastoma | ClinVar Annotator: match by term: Glioblastoma, somatic |
MouseDO ClinVar |
PMID:1349175 PMID:1359493 PMID:1565143 PMID:1565144 PMID:1591732 PMID:1631137 PMID:1679237 PMID:1683921 PMID:1978757 PMID:2046748 PMID:2259385 PMID:7565304 PMID:7707106 PMID:7732013 PMID:7783166 PMID:7791795 PMID:7887414 PMID:8023157 PMID:8062826 PMID:8080050 PMID:8099841 PMID:8118819 PMID:8164043 PMID:8401536 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:9157982 PMID:9218725 PMID:9242456 PMID:9268986 PMID:9290701 PMID:9364015 PMID:9546439 PMID:9569050 PMID:9598730 PMID:9632751 PMID:9662334 PMID:9667734 PMID:9825943 PMID:10229196 PMID:10411893 PMID:10432928 PMID:10519380 PMID:10567903 PMID:10589545 PMID:10761705 PMID:10797439 PMID:10864200 PMID:10871862 PMID:10922393 PMID:10949938 PMID:11051239 PMID:11101847 PMID:11139324 PMID:11180592 PMID:11370630 PMID:11429705 PMID:11479205 PMID:11590071 PMID:11593407 PMID:11782540 PMID:11793474 PMID:11896595 PMID:11920788 PMID:11920959 PMID:12007217 PMID:12406399 PMID:12506399 PMID:12509279 PMID:12619118 PMID:12672316 PMID:12700230 PMID:12726864 PMID:12826609 PMID:12885464 PMID:12909720 PMID:12917626 PMID:14673037 PMID:15004724 PMID:15017592 PMID:15037740 PMID:15381368 PMID:15390294 PMID:15607980 PMID:15607981 PMID:15722483 PMID:15825182 PMID:15850016 PMID:15925506 PMID:15951970 PMID:15977174 PMID:15982667 PMID:16312222 PMID:16322298 PMID:16401470 PMID:16489069 PMID:16494995 PMID:16508005 PMID:16551709 PMID:16633321 PMID:16682957 PMID:16736287 PMID:16778209 PMID:16818505 PMID:16827139 PMID:16861262 PMID:17015838 PMID:17311302 PMID:17417627 PMID:17427234 PMID:17530187 PMID:17540308 PMID:17541742 PMID:17572079 PMID:17606709 PMID:17636407 PMID:17724467 PMID:17875924 PMID:18208484 PMID:18307025 PMID:18391940 PMID:18453682 PMID:18511570 PMID:18555592 PMID:18989156 PMID:19012332 PMID:19101993 PMID:19127115 PMID:19147582 PMID:19171880 PMID:19336573 PMID:19367569 PMID:19378321 PMID:19405127 PMID:19468865 PMID:19556618 PMID:19881536 PMID:19913028 PMID:19930417 PMID:20013323 PMID:20028212 PMID:20113312 PMID:20127978 PMID:20128691 PMID:20364130 PMID:20407015 PMID:20505364 PMID:20506564 PMID:20516128 PMID:20522432 PMID:20689556 PMID:20693561 PMID:20805372 PMID:20972454 PMID:21059199 PMID:21113594 PMID:21159183 PMID:21187651 PMID:21232794 PMID:21305319 PMID:21343334 PMID:21356188 PMID:21484931 PMID:21519010 PMID:21535297 PMID:21552135 PMID:21601526 PMID:21626334 PMID:21674059 PMID:21761402 PMID:22006311 PMID:22052707 PMID:22110706 PMID:22114072 PMID:22186996 PMID:22198284 PMID:22233476 PMID:22265402 PMID:22427690 PMID:22484423 PMID:22672556 PMID:22698404 PMID:22713868 PMID:22768918 PMID:22811390 PMID:22887876 PMID:22899716 PMID:22915647 PMID:22919068 PMID:22923379 PMID:23031740 PMID:23161690 PMID:23172776 PMID:23246812 PMID:23259501 PMID:23263379 PMID:23265383 PMID:23315175 PMID:23538418 PMID:23630318 PMID:23667202 PMID:23792586 PMID:23894400 PMID:23950206 PMID:24033266 PMID:24038938 PMID:24122735 PMID:24307375 PMID:24381225 PMID:24384472 PMID:24395441 PMID:24487413 PMID:24501221 PMID:24549055 PMID:24573247 PMID:24603336 PMID:24641375 PMID:24651012 PMID:24651015 PMID:24677579 PMID:24702488 PMID:24728327 PMID:24810334 PMID:24835218 PMID:25119136 PMID:25157968 PMID:25293557 PMID:25339994 PMID:25433984 PMID:25503501 PMID:25525159 PMID:25584008 PMID:25584637 PMID:25619955 PMID:25669829 PMID:25741868 PMID:25787918 PMID:25925845 PMID:25927356 PMID:25952993 PMID:25980754 PMID:26014290 PMID:26022348 PMID:26024390 PMID:26205489 PMID:26225655 PMID:26230955 PMID:26270727 PMID:26467025 PMID:26497680 PMID:26556299 PMID:26585234 PMID:26619011 PMID:26628864 PMID:26681312 PMID:26786923 PMID:26787237 PMID:26818906 PMID:26822237 PMID:26845104 PMID:26878390 PMID:26911350 PMID:26976419 PMID:27022024 PMID:27077130 PMID:27153395 PMID:27189670 PMID:27276561 PMID:27374712 PMID:27463065 PMID:27501770 PMID:27516001 PMID:27523101 PMID:27616075 PMID:27621308 PMID:27680515 PMID:27683180 PMID:27724982 PMID:27895058 PMID:27959731 PMID:28135145 PMID:28152038 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:29070607 PMID:29126202 PMID:29300620 PMID:29324801 PMID:29470806 PMID:29478780 PMID:29489754 PMID:29581140 PMID:29752822 PMID:29753700 PMID:29979965 PMID:30076369 PMID:30128536 PMID:30216591 PMID:30224644 PMID:30299350 PMID:30306255 PMID:30311369 PMID:30327374 PMID:30352134 PMID:30450585 PMID:30630526 PMID:30675318 PMID:30709875 PMID:30720243 PMID:30816478 PMID:30840781 PMID:31016814 PMID:31206626 PMID:31494577 PMID:31775759 PMID:32000721 PMID:32295079 More...
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NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
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G |
Tp53bp1 |
tumor protein p53 binding protein 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30705370 |
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NCBI chr 3:108,166,574...108,270,229
Ensembl chr 3:108,169,980...108,269,822
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G |
Trmt11 |
tRNA methyltransferase 11 homolog |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30705370 |
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NCBI chr 1:27,054,437...27,109,765
Ensembl chr 1:27,054,420...27,201,610
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G |
Vegfa |
vascular endothelial growth factor A |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16356833 |
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NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641
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G |
Wt1 |
WT1 transcription factor |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20820871 |
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NCBI chr 3:91,566,540...91,613,653
Ensembl chr 3:91,567,001...91,613,643
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G |
Zbtb7a |
zinc finger and BTB domain containing 7a |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25875864 |
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NCBI chr 7:8,561,015...8,578,243
Ensembl chr 7:8,563,779...8,576,539
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G |
Rb1 |
RB transcriptional corepressor 1 |
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ISO |
RNA:decreased expression:brain: |
RGD |
PMID:22157621 |
RGD:13782062 |
NCBI chr15:48,371,295...48,502,473
Ensembl chr15:48,371,296...48,502,302
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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 chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226
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G |
Cyp2b3 |
cytochrome P450, family 2, subfamily b, polypeptide 3 |
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ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:9766669 PMID:11389073 |
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NCBI chr 1:81,652,762...81,732,153
Ensembl chr 1:81,652,787...81,732,143
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Cyp2c24 |
cytochrome P450, family 2, subfamily c, polypeptide 24 |
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ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:9766669 |
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NCBI chr 1:236,873,967...236,936,238
Ensembl chr 1:236,873,967...236,936,238
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Plau |
plasminogen activator, urokinase |
severity |
ISO |
mouse gene in rat model |
RGD |
PMID:20606645 |
RGD:7241591 |
NCBI chr15:3,456,230...3,462,732
Ensembl chr15:3,456,232...3,462,775
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Por |
cytochrome p450 oxidoreductase |
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ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:9766669 |
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NCBI chr12:20,951,058...20,999,198
Ensembl chr12:20,951,058...20,999,245
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Ptgs1 |
prostaglandin-endoperoxide synthase 1 |
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IEP |
protein:increased expression:microglia, macrophage, |
RGD |
PMID:10229132 |
RGD:5688250 |
NCBI chr 3:19,584,015...19,605,589
Ensembl chr 3:19,584,015...19,605,586
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Ptgs2 |
prostaglandin-endoperoxide synthase 2 |
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IEP |
protein:increased expression:endothelial cell |
RGD |
PMID:10229132 |
RGD:5688250 |
NCBI chr13:62,164,080...62,169,770
Ensembl chr13:62,163,932...62,172,188
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Vegfa |
vascular endothelial growth factor A |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16533777 |
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NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641
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Btc |
betacellulin |
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ISO |
protein:increased expression:pancreas |
RGD |
PMID:10724350 |
RGD:2326087 |
NCBI chr14:16,708,447...16,746,961
Ensembl chr14:16,707,982...16,747,049
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Men1 |
menin 1 |
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ISO |
DNA:deletion:exon CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:17961653 PMID:20138042 |
RGD:2317288 |
NCBI chr 1:203,638,905...203,644,871
Ensembl chr 1:203,639,000...203,644,871
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Slc2a2 |
solute carrier family 2 member 2 |
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ISO |
mRNA:decreased expression:pancreatic islet |
RGD |
PMID:12114701 PMID:8421107 |
RGD:2324976, RGD:2324977 |
NCBI chr 2:111,609,798...111,639,930
Ensembl chr 2:111,611,774...111,639,933
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Sstr4 |
somatostatin receptor 4 |
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ISO |
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RGD |
PMID:8132773 |
RGD:2324994 |
NCBI chr 3:135,854,826...135,856,689
Ensembl chr 3:135,854,826...135,856,689
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Aip |
aryl-hydrocarbon receptor-interacting protein |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Somatotroph adenoma |
CTD ClinVar |
PMID:2200621 PMID:5320367 PMID:9536098 PMID:12213383 PMID:16728643 PMID:17242703 PMID:17244780 PMID:17299063 PMID:17341560 PMID:17360484 PMID:17371465 PMID:17576681 PMID:17609395 PMID:18381572 PMID:18484068 PMID:19366855 PMID:19474519 PMID:19556287 PMID:19684062 PMID:19955762 PMID:20354355 PMID:20457215 PMID:20506337 PMID:20507346 PMID:20530095 PMID:20570174 PMID:20595802 PMID:20685857 PMID:20833337 PMID:21208107 PMID:21340166 PMID:21348957 PMID:21454441 PMID:21512261 PMID:21753072 PMID:21984905 PMID:22287093 PMID:22319033 PMID:22720333 PMID:22915287 PMID:23038625 PMID:23038925 PMID:23300914 PMID:23321498 PMID:23371967 PMID:23633209 PMID:23743763 PMID:24033266 PMID:24050928 PMID:24423289 PMID:25019383 PMID:25093619 PMID:25184284 PMID:25203624 PMID:25333069 PMID:25350067 PMID:25614825 PMID:25741868 PMID:26186299 PMID:26792934 PMID:27033541 PMID:27153395 PMID:27253664 PMID:27267386 PMID:27650164 PMID:28220018 PMID:28255869 PMID:28427099 PMID:28492532 PMID:28634279 PMID:29036195 PMID:29074612 PMID:29308445 PMID:29729370 PMID:30262796 PMID:30461320 PMID:30941100 PMID:32324286 More...
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NCBI chr 1:201,407,287...201,419,220
Ensembl chr 1:201,407,288...201,419,122
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Cdkn1a |
cyclin-dependent kinase inhibitor 1A |
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ISO |
protein:increased expression:pituitary gland: |
RGD |
PMID:18981426 |
RGD:8662821 |
NCBI chr20:7,149,177...7,159,727
Ensembl chr20:7,149,217...7,159,585
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Gh1 |
growth hormone 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:1611713 PMID:2042694 |
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NCBI chr10:91,228,102...91,230,079
Ensembl chr10:91,228,103...91,230,078
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Gnas |
GNAS complex locus |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11254676 |
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NCBI chr 3:163,071,003...163,136,350
Ensembl chr 3:163,071,417...163,127,262 Ensembl chr 3:163,071,417...163,127,262
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Gpr101 |
G protein-coupled receptor 101 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
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NCBI chr X:135,540,042...135,543,958
Ensembl chr X:135,540,042...135,543,958
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Hpgd |
15-hydroxyprostaglandin dehydrogenase |
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ISO |
mRNA:decreased expression:pituitary gland |
RGD |
PMID:22580984 |
RGD:11667097 |
NCBI chr16:33,986,265...34,024,228
Ensembl chr16:33,986,266...34,024,228
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Men1 |
menin 1 |
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ISS ISO |
OMIM:102200 ClinVar Annotator: match by term: Somatotroph adenoma |
MouseDO ClinVar |
PMID:30630164 |
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NCBI chr 1:203,638,905...203,644,871
Ensembl chr 1:203,639,000...203,644,871
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Prl |
prolactin |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:2042694 |
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NCBI chr17:37,859,999...37,870,062
Ensembl chr17:37,860,007...37,870,062
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Ptgs2 |
prostaglandin-endoperoxide synthase 2 |
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ISO |
mRNA:increased expression:pituitary gland |
RGD |
PMID:22580984 |
RGD:11667097 |
NCBI chr13:62,164,080...62,169,770
Ensembl chr13:62,163,932...62,172,188
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Gpr101 |
G protein-coupled receptor 101 |
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ISO |
ClinVar Annotator: match by term: Pituitary adenoma, growth hormone-secreting, 2 |
OMIM ClinVar |
PMID:25470569 PMID:25806919 PMID:25806920 PMID:25806921 PMID:26792934 PMID:26815903 PMID:27245663 PMID:27498687 PMID:28492532 PMID:29389097 More...
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NCBI chr X:135,540,042...135,543,958
Ensembl chr X:135,540,042...135,543,958
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Abcb1b |
ATP-binding cassette, subfamily B (MDR/TAP), member 1B |
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IDA |
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RGD |
PMID:16574265 |
RGD:1598564 |
NCBI chr 4:25,242,761...25,325,194
Ensembl chr 4:25,242,798...25,325,199
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Acvr1 |
activin A receptor type 1 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Brainstem glioma |
CTD ClinVar |
PMID:818090 PMID:7068725 PMID:19085907 PMID:19330033 PMID:22977237 PMID:24705250 PMID:24705251 PMID:24705252 PMID:24705254 PMID:25326637 PMID:25741868 PMID:26619011 PMID:31779674 More...
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NCBI chr 3:42,978,558...43,097,892
Ensembl chr 3:42,978,561...43,098,241
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Adgra2 |
adhesion G protein-coupled receptor A2 |
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ISO |
ClinVar Annotator: match by term: Ependymoma |
ClinVar |
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NCBI chr16:64,932,964...64,971,433
Ensembl chr16:64,933,315...64,971,483
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Akt2 |
AKT serine/threonine kinase 2 |
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ISO IDA |
protein:increased expression:cytoplasm (human) |
RGD |
PMID:19330838 PMID:19330838 |
RGD:2313297, RGD:2313297 |
NCBI chr 1:82,877,228...82,933,828
Ensembl chr 1:82,883,547...82,933,817
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Amotl1 |
angiomotin-like 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:34480788 |
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NCBI chr 8:11,348,651...11,467,564
Ensembl chr 8:11,353,674...11,467,573
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Angpt2 |
angiopoietin 2 |
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IEP |
protein:increased expression:brain (rat) |
RGD |
PMID:18615861 |
RGD:2314189 |
NCBI chr16:71,088,364...71,138,805
Ensembl chr16:71,088,364...71,138,804
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Apod |
apolipoprotein D |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16865689 |
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NCBI chr11:69,431,261...69,452,306
Ensembl chr11:69,431,260...69,452,305
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Araf |
A-Raf proto-oncogene, serine/threonine kinase |
disease_progression |
ISO |
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RGD |
PMID:27852048 |
RGD:13702476 |
NCBI chr X:1,227,392...1,292,356
Ensembl chr X:1,227,392...1,239,073
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Areg |
amphiregulin |
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IMP |
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RGD |
PMID:8621257 |
RGD:2292668 |
NCBI chr14:16,972,185...16,981,443
Ensembl chr14:16,972,187...16,981,535
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Arhgap32 |
Rho GTPase activating protein 32 |
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ISO |
ClinVar Annotator: match by term: Ependymoma |
ClinVar |
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NCBI chr 8:30,421,269...30,681,653
Ensembl chr 8:30,421,515...30,678,454
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Arid1b |
AT-rich interaction domain 1B |
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ISO |
ClinVar Annotator: match by term: Astrocytoma |
ClinVar |
PMID:25741868 |
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NCBI chr 1:45,567,991...45,923,644
Ensembl chr 1:45,563,623...45,923,493
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Arl2 |
ADP-ribosylation factor like GTPase 2 |
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ISO |
ClinVar Annotator: match by term: Ependymoma |
ClinVar |
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NCBI chr 1:203,434,129...203,446,156
Ensembl chr 1:203,434,129...203,446,119
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Aspm |
assembly factor for spindle microtubules |
disease_progression |
ISO |
mRNA:increased expression:brain: |
RGD |
PMID:20142996 |
RGD:13442488 |
NCBI chr13:51,074,849...51,123,755
Ensembl chr13:51,074,849...51,123,755
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Atf5 |
activating transcription factor 5 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28861715 |
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NCBI chr 1:95,295,602...95,299,755
Ensembl chr 1:95,295,610...95,299,707
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Atg2a |
autophagy related 2A |
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ISO |
ClinVar Annotator: match by term: Ependymoma |
ClinVar |
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NCBI chr 1:203,542,559...203,562,242
Ensembl chr 1:203,542,559...203,562,242
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Atg7 |
autophagy related 7 |
treatment |
IDA |
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RGD |
PMID:25542083 |
RGD:11557994 |
NCBI chr 4:147,718,663...147,925,656
Ensembl chr 4:147,718,752...147,925,593
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Atm |
ATM serine/threonine kinase |
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ISO |
ClinVar Annotator: match by term: Malignant glioma |
ClinVar |
PMID:8659541 PMID:8808599 PMID:9000145 PMID:9463314 PMID:10330348 PMID:10817650 PMID:10980530 PMID:11298136 PMID:16199547 PMID:21445571 PMID:21459046 PMID:21792198 PMID:23807571 PMID:25614872 PMID:25741868 PMID:28492532 PMID:30549301 More...
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NCBI chr 8:53,828,741...53,932,773
Ensembl chr 8:53,831,093...53,932,437
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Atp1b2 |
ATPase Na+/K+ transporting subunit beta 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16865689 |
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NCBI chr10:54,318,698...54,324,933
Ensembl chr10:54,318,701...54,324,933
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Atrx |
ATRX, chromatin remodeler |
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ISO |
DNA:mutations: :multiple CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:23583981 PMID:24705251 PMID:23104868 |
RGD:11040587 |
NCBI chr X:70,850,981...70,997,330
Ensembl chr X:70,850,981...70,997,330
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Bad |
BCL2-associated agonist of cell death |
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IEP ISO |
protein:increased phosphorylation:brain (rat) ClinVar Annotator: match by term: Ependymoma |
ClinVar RGD |
PMID:16944316 |
RGD:2292675 |
NCBI chr 1:204,133,502...204,142,829
Ensembl chr 1:204,131,501...204,142,823
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Banp |
Btg3 associated nuclear protein |
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ISO |
ClinVar Annotator: match by term: Ependymoma |
ClinVar |
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NCBI chr19:50,007,710...50,082,742
Ensembl chr19:50,007,881...50,082,738
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Barhl1 |
BarH-like homeobox 1 |
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ISO |
protein:increased expression:brain: |
RGD |
PMID:28956815 |
RGD:14390165 |
NCBI chr 3:12,241,327...12,248,649
Ensembl chr 3:12,241,327...12,248,649
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Batf2 |
basic leucine zipper ATF-like transcription factor 2 |
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ISO |
ClinVar Annotator: match by term: Ependymoma |
ClinVar |
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NCBI chr 1:203,467,291...203,479,428
Ensembl chr 1:203,468,097...203,475,889
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Bcan |
brevican |
severity |
IEP ISO IDA |
protein:increased expression:brain: |
RGD |
PMID:12799382 PMID:23253190 PMID:16061654 PMID:11585735 |
RGD:14392782, RGD:14392804, RGD:14392797, RGD:14392783 |
NCBI chr 2:173,454,479...173,467,717
Ensembl chr 2:173,454,482...173,467,460
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Bdkrb2 |
bradykinin receptor B2 |
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IEP |
mRNA:increased expression:brain |
RGD |
PMID:20080302 |
RGD:4891047 |
NCBI chr 6:124,472,317...124,502,497
Ensembl chr 6:124,472,566...124,502,497
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Birc5 |
baculoviral IAP repeat-containing 5 |
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IEP |
protein:increased expression:brain |
RGD |
PMID:17701349 |
RGD:2293131 |
NCBI chr10:103,072,530...103,081,382
Ensembl chr10:103,073,408...103,081,380
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Bmi1 |
BMI1 proto-oncogene, polycomb ring finger |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23383216 |
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NCBI chr17:81,332,175...81,341,625
Ensembl chr17:81,332,214...81,388,690
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Braf |
B-Raf proto-oncogene, serine/threonine kinase |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Brainstem glioma |
CTD ClinVar |
PMID:12068308 PMID:12198537 PMID:12447372 PMID:12460918 PMID:12460919 PMID:12619120 PMID:12644542 PMID:12670889 PMID:12794760 PMID:12960123 PMID:14513361 PMID:14602780 PMID:14679157 PMID:15001635 PMID:15035987 PMID:15126572 PMID:15181070 PMID:15342696 PMID:15356022 PMID:15386408 PMID:15687339 PMID:15998781 PMID:16015629 PMID:16174717 PMID:16187918 PMID:16772349 PMID:17374713 PMID:17488796 PMID:17785355 PMID:18398503 PMID:19001320 PMID:19010912 PMID:19018267 PMID:19238210 PMID:19404918 PMID:19537845 PMID:19561230 PMID:19571295 PMID: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:31277584 PMID:31779674 PMID:31891627 PMID:34476331 More...
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NCBI chr 4:68,375,484...68,510,652
Ensembl chr 4:68,384,649...68,510,463
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Brca2 |
BRCA2, DNA repair associated |
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ISO |
ClinVar Annotator: match by term: Glioma susceptibility 3 |
OMIM ClinVar |
PMID:8673090 PMID:9150172 PMID:9150174 PMID:9667259 PMID:9792861 PMID:10644434 PMID:10978364 PMID:11149425 PMID:11179017 PMID:11307153 PMID:11400546 PMID:11802209 PMID:12065746 PMID:12373604 PMID:12655567 PMID:14559878 PMID:14647210 PMID:14670928 PMID:15070707 PMID:15168169 PMID:15340362 PMID:15382066 PMID:15689453 PMID:15800311 PMID:16168118 PMID:16168123 PMID:16199547 PMID:16389418 PMID:16683254 PMID:16758124 PMID:16825431 PMID:16905680 PMID:16912212 PMID:16920162 PMID:17063270 PMID:17148771 PMID:17513806 PMID:17688236 PMID:17925560 PMID:17972171 PMID:18042939 PMID:18465347 PMID:18703817 PMID:19016756 PMID:19491284 PMID:19654294 PMID:19863560 PMID:19949876 PMID:19967274 PMID:20104584 PMID:20167696 PMID:20694749 PMID:20736950 PMID:20858050 PMID:21120943 PMID:21205087 PMID:21324516 PMID:21520273 PMID:21709188 PMID:21913181 PMID:22006311 PMID:22009639 PMID:22217648 PMID:22535016 PMID:22632462 PMID:22666503 PMID:22762150 PMID:22798144 PMID:22923021 PMID:23096105 PMID:23199084 PMID:23318356 PMID:23415752 PMID:23469205 PMID:23569316 PMID:23621881 PMID:23767878 PMID:24033266 PMID:24055113 PMID:24156927 PMID:24301060 PMID:24312913 PMID:24504028 PMID:24556621 PMID:24607278 PMID:24728189 PMID:24830819 PMID:24884479 PMID:24916970 PMID:25066507 PMID:25085752 PMID:25136594 PMID:25186627 PMID:25382762 PMID:25428789 PMID:25525159 PMID:25637381 PMID:25737278 PMID:25741868 PMID:25802882 PMID:25863477 PMID:26026974 PMID:26064523 PMID:26187060 PMID:26287763 PMID:26295337 PMID:26439132 PMID:26467025 PMID:26541979 PMID:26657402 PMID:26681312 PMID:26834852 | |