RGD DISEASE ONTOLOGY - ANNOTATIONS
RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term: malignant astrocytoma
Accession: DOID:3069
browse the term
Definition: A malignant glioma that is has_material_basis_in astrocyte cells, a type of star-shaped glial cell, located in the brain and spinal cord. (DO)
Synonyms: exact_synonym: Cerebral Astrocytoma; Childhood Cerebral Astrocytoma; Gemistocytic Astrocytoma; Grade I Astrocytoma; Grade I Astrocytomas; Grade II Astrocytoma; anaplastic astrocytoma; anaplastic astrocytomas; astrocytic brain tumor; astrocytic glioma; astrocytic gliomas; astrocytic tumor; astrocytoma of brain; astrocytoma of cerebrum; astrocytoma, no ICD-O subtype; astrocytomas; astroglioma; astrogliomas; cerebral astrocytomas; childhood cerebral astrocytomas; gemistocytic astrocytomas; grade II astrocytomas; intracranial astrocytoma; intracranial astrocytomas; mixed oligoastrocytoma; mixed oligoastrocytomas
primary_id: MESH:D001254
xref: NCI:C4951 ; NCI:C60436 ; NCI:C60781 ; NCI:C6958
For additional species annotation, visit the
Alliance of Genome Resources .
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Acvr1
activin A receptor type 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24705250
NCBI chr 3:44,432,476...44,539,680
Ensembl chr 3:44,432,471...44,522,930
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Adgrb1
adhesion G protein-coupled receptor B1
severity
ISO
RGD
PMID:23761815
RGD:13831356
NCBI chr 7:115,766,484...115,828,514
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Akt1
AKT serine/threonine kinase 1
disease_progression
ISO
RGD
PMID:19240976
RGD:5509079
NCBI chr 6:137,218,398...137,239,970
Ensembl chr 6:137,218,376...137,236,258
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Akt2
AKT serine/threonine kinase 2
severity
ISO
RGD
PMID:20167810
RGD:13674163
NCBI chr 1:84,400,939...84,451,223
Ensembl chr 1:84,411,726...84,450,162
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Akt3
AKT serine/threonine kinase 3
severity
ISO
RGD
PMID:20167810
RGD:13674163
NCBI chr13:95,076,308...95,348,913
Ensembl chr13:95,081,390...95,348,913
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Anxa1
annexin A1
ISO
associated with Tuberous Sclerosis;mRNA:increased expression:brain
RGD
PMID:20133820
RGD:7421564
NCBI chr 1:237,893,983...237,910,002
Ensembl chr 1:237,893,966...237,910,012
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Ar
androgen receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24680642
NCBI chr X:67,656,253...67,828,998
Ensembl chr X:67,656,253...67,829,026
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Atrx
ATRX, chromatin remodeler
disease_progression severity
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 , PMID:24810474 , PMID:23765250
RGD:9586026 , RGD:11040585
NCBI chr X:76,820,110...76,979,155
Ensembl chr X:76,692,970...76,708,878 Ensembl chr X:76,692,970...76,708,878
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Braf
B-Raf proto-oncogene, serine/threonine kinase
onset
ISO
CTD Direct Evidence: marker/mechanism DNA:rearrangement: : DNA:mutation:cds:p.V600E(human)
CTD
PMID:23817572 , PMID:19794125 , PMID:25346165
RGD:11069832 , RGD:11567238
NCBI chr 4:67,389,331...67,520,549
Ensembl chr 4:67,396,192...67,520,356
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Brd7
bromodomain containing 7
severity
ISO
protein:increased expression:brain:
RGD
PMID:24404152
RGD:9586441
NCBI chr19:19,672,780...19,701,484
Ensembl chr19:19,672,856...19,701,484
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Bst2
bone marrow stromal cell antigen 2
severity
ISO
RGD
PMID:21565182
RGD:14398497
NCBI chr16:19,938,781...19,942,353
Ensembl chr16:19,938,784...19,942,353
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Cadm2
cell adhesion molecule 2
severity
ISO
protein:decreased expression:brain
RGD
PMID:30816549
RGD:19165125
NCBI chr11:4,175,078...4,397,335
Ensembl chr11:4,174,881...4,397,361
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Camk2g
calcium/calmodulin-dependent protein kinase II gamma
disease_progression
ISO
RGD
PMID:12937144
RGD:13702480
NCBI chr15:3,936,721...3,995,740
Ensembl chr15:3,936,786...3,995,915
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Ccnd1
cyclin D1
severity
ISO
RGD
PMID:10419598
RGD:13681931
NCBI chr 1:218,090,750...218,100,447
Ensembl chr 1:218,090,750...218,100,325
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Dll3
delta like canonical Notch ligand 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21127729
NCBI chr 1:85,485,875...85,493,683
Ensembl chr 1:85,485,289...85,493,685
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Esr1
estrogen receptor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24680642
NCBI chr 1:41,192,029...41,594,799
Ensembl chr 1:41,192,824...41,594,796
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Esr2
estrogen receptor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24680642
NCBI chr 6:99,163,953...99,214,711
Ensembl chr 6:99,164,357...99,214,251
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Fgfr1
Fibroblast growth factor receptor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23817572
NCBI chr16:71,265,390...71,319,046
Ensembl chr16:71,266,248...71,319,449
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Gstm1
glutathione S-transferase mu 1
severity
ISO
DNA:deletion: :
RGD
PMID:12241105
RGD:5490125
NCBI chr 2:210,803,869...210,809,461
Ensembl chr 2:210,803,869...210,809,306
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Gstp1
glutathione S-transferase pi 1
susceptibility
ISO
DNA:polymorphism:exon:p.A114V (human)
RGD
PMID:12241105
RGD:5490125
NCBI chr 1:219,291,679...219,294,147
Ensembl chr 1:219,291,679...219,294,147
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Hey1
hes-related family bHLH transcription factor with YRPW motif 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21127729
NCBI chr 2:95,320,147...95,322,701
Ensembl chr 2:95,320,283...95,322,696
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Hey2
hes-related family bHLH transcription factor with YRPW motif 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21127729
NCBI chr 1:29,191,170...29,201,257
Ensembl chr 1:29,191,192...29,201,531
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Hgf
hepatocyte growth factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11223164
NCBI chr 4:15,435,460...15,505,377
Ensembl chr 4:15,433,295...15,505,362
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Hif1a
hypoxia inducible factor 1 subunit alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15341671
NCBI chr 6:96,810,868...96,856,303
Ensembl chr 6:96,810,907...96,856,052
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Hras
HRas proto-oncogene, GTPase
ISS
MouseDO
NCBI chr 1:214,178,404...214,181,841
Ensembl chr 1:214,178,407...214,181,686
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Il16
interleukin 16
ISO
protein:increased expression:brain
RGD
PMID:17221335
RGD:5024941
NCBI chr 1:145,781,923...145,881,538
Ensembl chr 1:145,781,928...145,870,912
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Kras
KRAS proto-oncogene, GTPase
susceptibility
ISO
sporadic pilocytic astrocytoma, OMIM:137800 DNA:mutation:cds:p.G12D(mouse) CTD Direct Evidence: marker/mechanism
CTD
PMID:23817572 , PMID:16247081 , PMID:24038521
RGD:1600476 , RGD:13702858
NCBI chr 4:179,482,562...179,515,483
Ensembl chr 4:179,486,105...179,515,558
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Lats1
large tumor suppressor kinase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17049657
NCBI chr 1:1,784,078...1,817,310
Ensembl chr 1:1,784,078...1,817,310
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Lats2
large tumor suppressor kinase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17049657
NCBI chr15:37,943,609...37,995,175
Ensembl chr15:37,943,609...37,983,882
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Map2k3
mitogen activated protein kinase kinase 3
ISO
protein:increased expression, increased phosphorylation:brain
RGD
PMID:17406030
RGD:1641940
NCBI chr10:45,089,455...45,110,802
Ensembl chr10:47,182,433...47,203,753
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Met
MET proto-oncogene, receptor tyrosine kinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11223164
NCBI chr 4:44,747,467...44,854,628
Ensembl chr 4:44,774,741...44,852,665
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Mir155hg
Mir155 host gene
severity
ISO
RGD
PMID:27764782
RGD:11571728
NCBI chr11:24,175,417...24,177,646
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Mmp3
matrix metallopeptidase 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20188714
NCBI chr 8:5,676,608...5,698,579
Ensembl chr 8:5,676,665...5,698,579
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Mmp9
matrix metallopeptidase 9
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20188714
NCBI chr 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520
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Mre11
MRE11 homolog, double strand break repair nuclease
severity
ISO
mRNA:decreased expression:brain tumor (human)
RGD
PMID:17034947
RGD:2317736
NCBI chr 8:13,304,355...13,350,329
Ensembl chr 8:13,305,152...13,352,489
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Ncoa3
nuclear receptor coactivator 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24680642
NCBI chr 3:162,692,176...162,788,582
Ensembl chr 3:162,692,185...162,787,548
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Ndrg1
N-myc downstream regulated 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15341671
NCBI chr 7:107,734,326...107,775,701
Ensembl chr 7:107,734,323...107,775,714
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Nedd8
NEDD8 ubiquitin like modifier
ISO
RGD
PMID:12533840
RGD:1549458
NCBI chr15:34,340,607...34,352,673
Ensembl chr15:34,340,607...34,352,673
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Nf1
neurofibromin 1
ISO
protein:decreased expression:brain: CTD Direct Evidence: marker/mechanism
CTD
PMID:20176786 PMID:23817572 , PMID:10973261 , PMID:10931370
RGD:1302542 , RGD:12743656
NCBI chr10:66,732,460...66,928,706
Ensembl chr10:66,690,133...66,928,903
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Notch1
notch receptor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21127729
NCBI chr 3:3,905,562...3,951,015
Ensembl chr 3:3,905,453...3,951,025
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Notch2
notch receptor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21127729
NCBI chr 2:200,187,184...200,320,403
Ensembl chr 2:200,187,179...200,320,215
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Ntrk2
neurotrophic receptor tyrosine kinase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23817572
NCBI chr17:5,934,651...6,245,778
Ensembl chr17:5,933,729...6,244,676
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Pcmt1
protein-L-isoaspartate (D-aspartate) O-methyltransferase 1
ISO
protein:decreased expression,decreased activity:brain:
RGD
PMID:15857672
RGD:10448283
NCBI chr 1:1,734,863...1,767,759
Ensembl chr 1:1,736,276...1,767,618
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Ptpn11
protein tyrosine phosphatase, non-receptor type 11
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23817572
NCBI chr12:40,895,515...40,955,999
Ensembl chr12:40,895,515...40,955,999
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RGD1306271
similar to KIAA1549 protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23817572
NCBI chr 4:65,834,933...65,962,722
Ensembl chr 4:65,834,035...65,962,539
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Tp53
tumor protein p53
susceptibility
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Astrocytoma, anaplastic DNA:nonsense mutation:cds:
CTD 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:20176786 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 , PMID:24038521
RGD:13702858
NCBI chr10:56,186,299...56,198,449
Ensembl chr10:56,187,020...56,198,449
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Mmp1
matrix metallopeptidase 1
susceptibility
ISO
DNA:insertion:promoter:g.-1607insG (human)
RGD
PMID:17502998
RGD:7207034
NCBI chr 8:5,703,206...5,723,593
Ensembl chr 8:5,703,206...5,723,591
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Mki67
marker of proliferation Ki-67
severity
ISO
RGD
PMID:21696422
RGD:6483520
NCBI chr 1:207,993,895...208,020,454
Ensembl chr 1:207,993,895...208,020,454
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Atrx
ATRX, chromatin remodeler
ISO
ClinVar Annotator: match by term: Astrocytoma, anaplastic
ClinVar
PMID:7697714 PMID:8968741 PMID:18414213 PMID:22995991 PMID:24082139 PMID:24728327 PMID:25741868 PMID:26467025 PMID:28293299 PMID:28492530 PMID:28492532 PMID:29304373 PMID:29602769 PMID:29910053
NCBI chr X:76,820,110...76,979,155
Ensembl chr X:76,692,970...76,708,878 Ensembl chr X:76,692,970...76,708,878
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Kras
KRAS proto-oncogene, GTPase
ISO
mRNA:decreased expression:brain
RGD
PMID:19179066
RGD:13702872
NCBI chr 4:179,482,562...179,515,483
Ensembl chr 4:179,486,105...179,515,558
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Tp53
tumor protein p53
ISO
ClinVar Annotator: match by term: Astrocytoma, anaplastic
ClinVar
PMID:1349175 PMID:1565143 PMID:1565144 PMID:1591732 PMID: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
NCBI chr10:56,186,299...56,198,449
Ensembl chr10:56,187,020...56,198,449
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Apc
APC regulator of WNT signaling pathway
ISO
ClinVar Annotator: match by term: Neuroepithelial neoplasm
ClinVar
PMID:25186627 PMID:25741868 PMID:27696107 PMID:27997549 PMID:28492532
NCBI chr18:27,011,710...27,106,323
Ensembl chr18:27,047,382...27,105,531
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Mir542
microRNA 542
disease_progression
ISO
RGD
PMID:26286747
RGD:13782052
NCBI chr X:158,152,146...158,152,224
Ensembl chr X:158,152,146...158,152,224
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Pik3r1
phosphoinositide-3-kinase regulatory subunit 1
severity
ISO
RGD
PMID:26956052 , PMID:26286747
RGD:11343921 , RGD:13782052
NCBI chr 2:31,742,326...31,826,882
Ensembl chr 2:31,745,088...31,826,867
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Mir139
microRNA 139
ISO
RNA:decreased expression:brain:
RGD
PMID:26449464
RGD:13838722
NCBI chr 1:166,589,545...166,589,612
Ensembl chr 1:166,589,545...166,589,612
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Ncam1
neural cell adhesion molecule 1
disease_progression
ISO
RGD
PMID:20219118
RGD:40924672
NCBI chr 8:53,836,797...54,134,881
Ensembl chr 8:53,839,098...53,901,358
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Msh6
mutS homolog 6
ISO
ClinVar Annotator: match by term: Cerebellar medulloblastoma
ClinVar
NCBI chr 6:11,644,565...11,662,389
Ensembl chr 6:11,644,578...11,662,499
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Mapk1
mitogen activated protein kinase 1
ISO
protein:increased expression:brain:
RGD
PMID:21466243
RGD:13702864
NCBI chr11:88,203,863...88,273,301
Ensembl chr11:88,211,599...88,273,254
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Acod1
aconitate decarboxylase 1
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr15:93,612,968...93,622,322
Ensembl chr15:93,612,971...93,622,358
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Alg11
ALG11, alpha-1,2-mannosyltransferase
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr16:74,854,007...74,866,096
Ensembl chr16:74,857,562...74,864,816
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Arl11
ADP-ribosylation factor like GTPase 11
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr15:41,639,985...41,645,685
Ensembl chr15:41,643,541...41,645,685
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Atp7b
ATPase copper transporting beta
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr16:74,865,516...74,944,935
Ensembl chr16:74,865,516...74,945,286
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Bora
bora, aurora kinase A activator
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr15:83,442,217...83,463,737
Ensembl chr15:83,442,144...83,463,717
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Cab39l
calcium binding protein 39-like
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr15:39,745,124...39,849,022
Ensembl chr15:39,759,257...39,870,208
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Ccdc70
coiled-coil domain containing 70
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr16:74,958,897...74,963,925
Ensembl chr16:74,958,897...74,963,044
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Cdadc1
cytidine and dCMP deaminase domain containing 1
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr15:39,865,094...39,894,122
Ensembl chr15:39,882,210...39,893,979
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Ckap2
cytoskeleton associated protein 2
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr16:74,752,655...74,779,184
Ensembl chr16:74,752,655...74,779,184
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Cln5
CLN5, intracellular trafficking protein
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr15:93,634,815...93,644,146
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Cnmd
chondromodulin
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr15:61,923,291...61,947,840
Ensembl chr15:61,923,299...61,947,764
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Commd6
COMM domain containing 6
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr15:86,136,096...86,142,672
Ensembl chr15:86,136,096...86,142,672
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Cysltr2
cysteinyl leukotriene receptor 2
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr15:54,903,290...54,941,742
Ensembl chr15:54,905,274...54,906,203
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Dach1
dachshund family transcription factor 1
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr15:82,095,003...82,482,272
Ensembl chr15:82,099,159...82,482,009
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Diaph3
diaphanous-related formin 3
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr15:69,928,507...70,400,077
Ensembl chr15:70,039,424...70,399,924
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Dis3
DIS3 homolog, exosome endoribonuclease and 3'-5' exoribonuclease
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr15:83,466,330...83,494,107
Ensembl chr15:83,466,428...83,494,423
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Dleu7
deleted in lymphocytic leukemia, 7
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr15:45,360,505...45,378,840
Ensembl chr15:45,360,503...45,376,476
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Ebpl
EBP like
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr15:41,668,119...41,691,518
Ensembl chr15:41,668,119...41,691,518
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Ednrb
endothelin receptor type B
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr15:88,004,775...88,036,354
Ensembl chr15:88,006,977...88,036,354
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Fam124a
family with sequence similarity 124 member A
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr15:45,711,994...45,780,395
Ensembl chr15:45,712,821...45,780,405
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Fbxl3
F-box and leucine-rich repeat protein 3
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr15:93,647,307...93,667,395
Ensembl chr15:93,647,310...93,667,395
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Fndc3a
fibronectin type III domain containing 3a
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr15:54,378,865...54,582,954
Ensembl chr15:54,381,044...54,528,480
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Ints6
integrator complex subunit 6
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr15:45,844,050...45,929,996
Ensembl chr15:45,858,608...45,947,030
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Itm2b
integral membrane protein 2B
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr15:55,254,703...55,277,713
Ensembl chr15:55,254,706...55,277,713
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Kcnrg
potassium channel regulator
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr15:41,937,880...41,942,205
Ensembl chr15:41,937,880...41,942,205
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Kctd12
potassium channel tetramerization domain containing 12
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr15:87,384,632...87,390,627
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Klf12
Kruppel-like factor 12
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr15:84,316,986...84,748,549
Ensembl chr15:84,324,470...84,748,525
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Klf5
Kruppel-like factor 5
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr15:83,703,796...83,722,921
Ensembl chr15:83,703,791...83,722,921
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Klhl1
kelch-like family member 1
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr15:80,270,846...80,714,176
Ensembl chr15:80,271,731...80,713,153
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Kpna3
karyopherin subunit alpha 3
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr15:41,696,356...41,770,112
Ensembl chr15:41,698,281...41,770,112
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Lmo7
LIM domain 7
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr15:86,242,911...86,458,512
Ensembl chr15:86,243,148...86,457,739
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LOC102554746
uncharacterized LOC102554746
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr15:45,559,028...45,581,410
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Lpar6
lysophosphatidic acid receptor 6
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr15:55,126,953...55,128,762
Ensembl chr15:55,126,953...55,128,761
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Med4
mediator complex subunit 4
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr15:55,406,543...55,416,816
Ensembl chr15:55,406,543...55,416,815
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Mycbp2
MYC binding protein 2
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr15:87,405,472...87,450,812 NCBI chr15:93,678,062...93,901,556
Ensembl chr15:87,506,959...93,868,301
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Mzt1
mitotic spindle organizing protein 1
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr15:83,429,437...83,442,118
Ensembl chr15:83,431,178...83,442,008
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Ndfip2
Nedd4 family interacting protein 2
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr15:89,407,426...89,458,983
Ensembl chr15:89,407,426...89,458,983
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Nek3
NIMA-related kinase 3
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr16:74,781,371...74,806,567
Ensembl chr16:74,785,281...74,806,149
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Nek5
NIMA-related kinase 5
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr16:74,809,513...74,851,895
Ensembl chr16:74,810,938...74,848,113
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Nudt15
nudix hydrolase 15
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr15:55,417,774...55,456,698
Ensembl chr15:55,419,502...55,456,698
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Obi1
ORC ubiquitin ligase 1
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr15:88,632,089...88,670,325
Ensembl chr15:88,631,794...88,670,349
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Olfm4
olfactomedin 4
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr15:62,384,263...62,429,450
Ensembl chr15:62,406,873...62,429,449
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Pcdh17
protocadherin 17
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr15:67,555,835...67,647,990
Ensembl chr15:67,555,835...67,645,088
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Pcdh20
protocadherin 20
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr15:71,772,777...71,779,033
Ensembl chr15:71,772,777...71,779,033
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Pcdh8
protocadherin 8
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr15:62,196,469...62,201,498
Ensembl chr15:62,197,060...62,200,837
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Pcdh9
protocadherin 9
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr15:76,787,108...77,738,668
Ensembl chr15:77,733,402...77,736,892
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Phf11
PHD finger protein 11
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr15:38,692,817...39,683,417
Ensembl chr15:38,647,779...38,709,984
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Pibf1
progesterone immunomodulatory binding factor 1
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr15:83,494,110...83,663,202
Ensembl chr15:83,495,377...83,663,143
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Pou4f1
POU class 4 homeobox 1
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr15:88,618,255...88,622,712
Ensembl chr15:88,620,470...88,622,413
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Prr20e
proline rich 20E
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr 4:121,040,810...121,053,910
Ensembl chr 4:121,046,277...121,052,552
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Rb1
RB transcriptional corepressor 1
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr15:55,081,582...55,209,060
Ensembl chr15:55,083,140...55,209,342
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Rbm26
RNA binding motif protein 26
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr15:89,262,683...89,339,323
Ensembl chr15:89,266,710...89,339,323
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Rcbtb1
RCC1 and BTB domain containing protein 1
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr15:39,622,572...39,665,335
Ensembl chr15:39,638,510...39,669,473
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Rcbtb2
RCC1 and BTB domain containing protein 2
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr15:55,029,388...55,074,728
Ensembl chr15:55,034,033...55,073,437
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Rnaseh2b
ribonuclease H2, subunit B
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr15:45,422,010...45,472,792
Ensembl chr15:45,422,010...45,464,892
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Scel
sciellin
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr15:87,689,190...87,820,731
Ensembl chr15:87,704,340...87,820,779
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Serpine3
serpin family E member 3
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr15:45,827,983...45,855,952
Ensembl chr15:45,834,302...45,858,335
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Setdb2
SET domain bifurcated histone lysine methyltransferase 2
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr15:38,699,135...39,745,035
Ensembl chr15:39,712,861...39,742,103 Ensembl chr15:39,712,861...39,742,103
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Slain1
SLAIN motif family, member 1
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr15:87,862,832...87,906,472
Ensembl chr15:87,886,783...87,906,474
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Slitrk1
SLIT and NTRK-like family, member 1
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr15:93,303,382...93,307,420
Ensembl chr15:93,303,382...93,307,420
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Slitrk6
SLIT and NTRK-like family, member 6
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr15:95,507,632...95,514,259
Ensembl chr15:95,507,640...95,514,259
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Spry2
sprouty RTK signaling antagonist 2
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr15:90,172,769...90,177,823
Ensembl chr15:90,172,975...90,175,802
G
Spryd7
SPRY domain containing 7
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr15:41,871,144...41,890,879
Ensembl chr15:41,870,762...41,890,716
G
Sucla2
succinate-CoA ligase ADP-forming subunit beta
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr15:55,461,695...55,516,954
Ensembl chr15:55,461,695...55,516,952
G
Sugt1
SGT1 homolog, MIS12 kinetochore complex assembly cochaperone
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr15:61,873,158...61,913,983
Ensembl chr15:61,873,056...61,914,072
G
Tbc1d4
TBC1 domain family, member 4
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr15:85,927,978...86,105,829
Ensembl chr15:85,930,044...86,105,273
G
Tdrd3
tudor domain containing 3
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr15:70,732,164...70,864,855
Ensembl chr15:70,790,125...70,859,185
G
Thsd1
thrombospondin type 1 domain containing 1
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr16:74,680,621...74,712,368
Ensembl chr16:74,680,621...74,710,704
G
Trim13
tripartite motif-containing 13
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr15:41,897,191...41,936,545
Ensembl chr15:41,927,241...41,935,718
G
Uchl3
ubiquitin C-terminal hydrolase L3
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr15:86,153,624...86,198,127
Ensembl chr15:86,153,628...86,198,127
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Vps36
vacuolar protein sorting 36 homolog
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr16:74,719,642...74,743,921
Ensembl chr16:74,719,553...74,743,927
G
Wdfy2
WD repeat and FYVE domain containing 2
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr15:46,008,613...46,134,319
Ensembl chr15:46,008,613...46,134,064
G
Rb1
RB transcriptional corepressor 1
ISO
DNA:mutations:promoter, intron, exon:multiple
RGD
PMID:17096365
RGD:8547984
NCBI chr15:55,081,582...55,209,060
Ensembl chr15:55,083,140...55,209,342
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Kras
KRAS proto-oncogene, GTPase
ISO
mRNA:decreased expression:brain
RGD
PMID:19179066
RGD:13702872
NCBI chr 4:179,482,562...179,515,483
Ensembl chr 4:179,486,105...179,515,558
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Alk
ALK receptor tyrosine kinase
ISO
ClinVar Annotator: match by term: Ganglioneuroblastoma
ClinVar
PMID:21838707 PMID:22072639 PMID:23104988 PMID:25741868 PMID:28492532
NCBI chr 6:22,696,415...23,203,791
Ensembl chr 6:22,696,397...23,203,775
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Brca1
BRCA1, DNA repair associated
ISO
ClinVar Annotator: match by term: Ganglioneuroblastoma
ClinVar
PMID:25348012 PMID:25741868 PMID:25971625 PMID:26295337 PMID:26467025 PMID:28492532 PMID:30287823
NCBI chr10:89,394,821...89,455,093
Ensembl chr10:89,394,803...89,454,681
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Tsc2
TSC complex subunit 2
ISO
ClinVar Annotator: match by term: Ganglioneuroblastoma
ClinVar
PMID:21309039 PMID:21520333 PMID:25741868 PMID:28492532
NCBI chr10:13,962,006...13,996,684
Ensembl chr10:13,961,947...13,996,584
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Actr3
actin related protein 3
ISO
mRNA:increased expression:brain (human)
RGD
PMID:25682201
RGD:11570557
NCBI chr13:41,695,520...41,738,622
Ensembl chr13:41,695,183...41,738,658
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Adgrb1
adhesion G protein-coupled receptor B1
treatment
ISO
mRNA:decreased expression:brain:
RGD
PMID:16244591 , PMID:12507886
RGD:13831352 , RGD:13831355
NCBI chr 7:115,766,484...115,828,514
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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 2:256,609,787...256,724,642
Ensembl chr 2:256,609,787...256,724,641
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Akt1
AKT serine/threonine kinase 1
ISO
RGD
PMID:10802656
RGD:734543
NCBI chr 6:137,218,398...137,239,970
Ensembl chr 6:137,218,376...137,236,258
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Akt3
AKT serine/threonine kinase 3
disease_progression
ISO
RGD
PMID:27422127
RGD:13674164
NCBI chr13:95,076,308...95,348,913
Ensembl chr13:95,081,390...95,348,913
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Apc
APC regulator of WNT signaling pathway
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:7661930
NCBI chr18:27,011,710...27,106,323
Ensembl chr18:27,047,382...27,105,531
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Aspm
assembly factor for spindle microtubules
ISO
mRNA:increased expression:brain:
RGD
PMID:18636190
RGD:13439742
NCBI chr13:56,546,021...56,591,793
Ensembl chr13:56,546,021...56,591,793
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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
NCBI chr 8:58,015,938...58,119,973
Ensembl chr 8:58,015,940...58,120,045
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Atrx
ATRX, chromatin remodeler
disease_progression
ISO
ClinVar Annotator: match by term: Glioblastoma multiforme, somatic
ClinVar
PMID:27478330
RGD:13442489
NCBI chr X:76,820,110...76,979,155
Ensembl chr X:76,692,970...76,708,878 Ensembl chr X:76,692,970...76,708,878
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Bag3
BAG cochaperone 3
treatment
IMP
RGD
PMID:21561597
RGD:5687132
NCBI chr 1:199,941,258...199,965,191
Ensembl chr 1:199,941,161...199,965,191
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Bche
butyrylcholinesterase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:2317787
NCBI chr 2:171,104,476...171,196,186
Ensembl chr 2:171,100,140...171,196,395
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Becn1
beclin 1
disease_progression
ISO
RGD
PMID:20863706
RGD:6483102
NCBI chr10:89,209,944...89,225,297
Ensembl chr10:89,209,940...89,225,297
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Bhlhe40
basic helix-loop-helix family, member e40
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23582323
NCBI chr 4:140,703,619...140,709,319
Ensembl chr 4:140,703,619...140,709,319
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Bmi1
BMI1 proto-oncogene, polycomb ring finger
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19823589
NCBI chr17:85,360,439...85,370,283
Ensembl chr17:85,364,483...85,368,208
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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: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:22048237 PMID:22113612 PMID:22180495 PMID:22281684 PMID:22310681 PMID:22351686 PMID:22356324 PMID:22389471 PMID:22448344 PMID:22536370 PMID:22586120 PMID:22608338 PMID:22649091 PMID:22663011 PMID:22735384 PMID:22743296 PMID:22773810 PMID:22805292 PMID:22972589 PMID:22997239 PMID:23020132 PMID:23031422 PMID:23251002 PMID:23302800 PMID:23325582 PMID:23470635 PMID:23524406 PMID:23549875 PMID:23614898 PMID:23685455 PMID:23812671 PMID:23833300 PMID:23845441 PMID:23918947 PMID:24033266 PMID:24107445 PMID:24112392 PMID:24163374 PMID:24388723 PMID:24508103 PMID:24512911 PMID:24576830 PMID:24583796 PMID:24586605 PMID:24594804 PMID:24670642 PMID:24717435 PMID:25024077 PMID:25037139 PMID:25079330 PMID:25157968 PMID:25265492 PMID:25265494 PMID:25370471 PMID:25399551 PMID:25463315 PMID:25741868 PMID:25950823 PMID:25989278 PMID:26619011 PMID:26678033 PMID:27404270 PMID:27480103 PMID:28492532 PMID:28854169 PMID:28891408 PMID:29925953 PMID:31779674 PMID:31891627
NCBI chr 4:67,389,331...67,520,549
Ensembl chr 4:67,396,192...67,520,356
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Brd2
bromodomain containing 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27388964
NCBI chr20:3,910,555...3,921,074
Ensembl chr20:3,910,555...3,917,426 Ensembl chr20:3,910,555...3,917,426
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Brd4
bromodomain containing 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26455392 PMID:27388964
NCBI chr 7:14,222,101...14,303,055
Ensembl chr 7:14,222,101...14,303,055
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Brd7
bromodomain containing 7
ISO
protein:increased expression:brain:
RGD
PMID:24404152
RGD:9586441
NCBI chr19:19,672,780...19,701,484
Ensembl chr19:19,672,856...19,701,484
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Cbx6
chromobox 6
disease_progression
ISO
mRNA,protein:decreased expression:astrocyte:
RGD
PMID:24260522
RGD:9587354
NCBI chr 7:121,047,996...121,058,109
Ensembl chr 7:121,050,302...121,058,029
G
Cbx7
chromobox 7
disease_progression
ISO
mRNA,protein:decreased expression:astrocyte:
RGD
PMID:24260522
RGD:9587354
NCBI chr 7:121,136,067...121,153,503
Ensembl chr 7:121,136,058...121,153,383
G
Cbx8
chromobox 8
ISO
mRNA:increased expression:astrocyte:
RGD
PMID:24260522
RGD:9587354
NCBI chr10:108,148,073...108,150,511
Ensembl chr10:108,148,073...108,150,511
G
Ccnh
cyclin H
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30705370
NCBI chr 2:13,593,100...13,613,910
Ensembl chr 2:13,593,100...13,613,910
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Cd9
CD9 molecule
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26573230
NCBI chr 4:157,977,163...158,010,091
Ensembl chr 4:157,977,162...158,010,166
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Cdk4
cyclin-dependent kinase 4
ISO
DNA:amplication
RGD
PMID:23796897
RGD:13702089
NCBI chr 7:70,345,971...70,352,689
Ensembl chr 7:70,349,863...70,352,418
G
Cdk6
cyclin-dependent kinase 6
severity
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20534551 , PMID:10884881
RGD:13702095
NCBI chr 4:27,781,728...27,969,653
Ensembl chr 4:27,785,647...27,966,398
G
Cdkn2a
cyclin-dependent kinase inhibitor 2A
treatment
ISO
RGD
PMID:10720483
RGD:8552659
NCBI chr 5:107,823,323...107,832,405
Ensembl chr 5:107,823,330...107,841,175
G
Cdkn2a_v1
cyclin-dependent kinase inhibitor 2A, variant 1
treatment
ISO
RGD
PMID:10720483
RGD:8552659
G
Chaf1b
chromatin assembly factor 1 subunit B
ISO
protein:increased expression:brain:
RGD
PMID:24039914
RGD:9587472
NCBI chr11:34,101,248...34,121,371
Ensembl chr11:34,101,197...34,121,378
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Chi3l1
chitinase 3 like 1
ISO
mRNA:increased expression:brain, tumor (human) CTD Direct Evidence: marker/mechanism
CTD
PMID:21029458 , PMID:11161003
RGD:4892621
NCBI chr13:51,022,844...51,030,797
Ensembl chr13:51,022,681...51,030,802
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Cpeb1
cytoplasmic polyadenylation element binding protein 1
disease_progression
IMP
RGD
PMID:23360795
RGD:9685152
NCBI chr 1:143,171,457...143,278,485
Ensembl chr 1:143,171,264...143,278,485
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Crebbp
CREB binding protein
ISO
ClinVar Annotator: match by term: Glioblastoma
ClinVar
PMID:21390126 PMID:21680795 PMID:21796119 PMID:22832583 PMID:23334668 PMID:23685749 PMID:23778141 PMID:26087898 PMID:26619011 PMID:27257180 PMID:28492532 PMID:29551561
NCBI chr10:11,590,994...11,721,039
Ensembl chr10:11,595,044...11,721,039
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Csta
cystatin A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22287159
NCBI chr11:67,555,792...67,566,980
Ensembl chr11:67,555,658...67,566,972
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Cstb
cystatin B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22287159
NCBI chr20:10,966,357...10,968,399
Ensembl chr20:10,966,331...10,968,432
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Ctnnd2
catenin delta 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23917401
NCBI chr 2:83,227,247...84,094,315
Ensembl chr 2:83,393,282...84,094,315
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Ctsb
cathepsin B
ISO
protein:increased expression:glioma cell (human) CTD Direct Evidence: marker/mechanism
CTD
PMID:22287159 , PMID:17898873
RGD:2315515
NCBI chr15:46,316,741...46,337,613
Ensembl chr15:46,316,741...46,337,612
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Ctsh
cathepsin H
ISO
protein:increased expression:brain
RGD
PMID:8640738
RGD:1549417
NCBI chr 8:97,439,155...97,458,293
Ensembl chr 8:97,439,161...97,458,287
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Ctsk
cathepsin K
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25356585
NCBI chr 2:196,655,469...196,666,447
Ensembl chr 2:196,655,469...196,666,446
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Deup1
deuterosome assembly protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30705370
NCBI chr 8:14,094,742...14,157,232
Ensembl chr 8:14,094,732...14,157,141
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Dmbt1
deleted in malignant brain tumors 1
ISO
DNA:deletion
RGD
PMID:9288095
RGD:1599778
NCBI chr 1:201,620,642...201,689,905 NCBI chr 1:203,149,414...203,228,705
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Dnmt3a
DNA methyltransferase 3 alpha
ISO
ClinVar Annotator: match by term: Glioblastoma
ClinVar
NCBI chr 6:28,205,375...28,346,052
Ensembl chr 6:28,235,695...28,340,577
G
Dusp6
dual specificity phosphatase 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21499306
NCBI chr 7:41,475,163...41,479,393
Ensembl chr 7:41,475,163...41,479,392
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E2f1
E2F transcription factor 1
disease_progression
ISO
RGD
PMID:16264179
RGD:13702471
NCBI chr 3:150,062,895...150,073,721
Ensembl chr 3:150,047,826...150,073,721
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Egf
epidermal growth factor
susceptibility
ISO
CTD Direct Evidence: marker/mechanism DNA:polymorphism:promoter:+61A>G(human)
CTD
PMID:16598420 , PMID:22481252
RGD:13702472
NCBI chr 2:68,820,616...68,895,537
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Egfr
epidermal growth factor receptor
ISO
CTD Direct Evidence: marker/mechanism 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
NCBI chr14:99,919,485...100,104,136
Ensembl chr14:99,919,485...100,098,796
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Enpp1
ectonucleotide pyrophosphatase/phosphodiesterase 1
severity
ISO
protein:increased expression:brain (human)
RGD
PMID:21195542
RGD:13204719
NCBI chr 1:21,748,201...21,813,205
Ensembl chr 1:21,748,261...21,813,371
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Ezh2
enhancer of zeste 2 polycomb repressive complex 2 subunit
treatment
ISO
RGD
PMID:25595591
RGD:14928319
NCBI chr 4:77,284,404...77,347,011
Ensembl chr 4:77,284,404...77,347,011
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Fabp7
fatty acid binding protein 7
severity
ISO
mRNA, protein:increased expression:brain (human)
RGD
PMID:15827123
RGD:1578468
NCBI chr20:40,769,624...40,773,156
Ensembl chr20:40,769,586...40,773,349
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Fat1
FAT atypical cadherin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23354438
NCBI chr16:50,372,150...50,501,716
Ensembl chr16:50,372,128...50,501,921
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Fbxw7
F-box and WD repeat domain containing 7
ISO
ClinVar Annotator: match by term: Glioblastoma
ClinVar
PMID:26619011
NCBI chr 2:184,230,191...184,309,805
Ensembl chr 2:184,231,260...184,309,664
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Fgfr1
Fibroblast growth factor receptor 1
ISO
ClinVar Annotator: match by term: Glioblastoma
ClinVar
PMID:25705862 PMID:26619011 PMID:26942290
NCBI chr16:71,265,390...71,319,046
Ensembl chr16:71,266,248...71,319,449
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Flt3lg
Fms related receptor tyrosine kinase 3 ligand
treatment
ISO
RGD
PMID:18079358
RGD:11049502
NCBI chr 1:101,126,006...101,131,413
Ensembl chr 1:101,124,479...101,131,413
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Fn1
fibronectin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17099729
NCBI chr 9:78,900,111...78,969,018
Ensembl chr 9:78,900,103...78,969,078
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Fosl2
FOS like 2, AP-1 transcription factor subunit
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23582323
NCBI chr 6:25,598,936...25,616,995
Ensembl chr 6:25,598,936...25,616,995
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Gdnf
glial cell derived neurotrophic factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19138852
NCBI chr 2:56,884,181...56,912,964
Ensembl chr 2:56,887,987...56,910,238
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Grik2
glutamate ionotropic receptor kainate type subunit 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30705370
NCBI chr20:53,791,428...54,517,691
Ensembl chr20:53,789,760...54,517,709
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Gstt1
glutathione S-transferase theta 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16874663
NCBI chr20:13,799,102...13,816,527
Ensembl chr20:13,799,102...13,816,526
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H2ax
H2A.X variant histone
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26651356
NCBI chr 8:48,665,652...48,666,981
Ensembl chr 8:48,665,652...48,666,981
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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 chr13:99,091,246...99,102,828
Ensembl chr13:99,091,763...99,101,208
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Heatr1
HEAT repeat containing 1
ISO
mRNA, protein:increased expression:brain
RGD
PMID:25126583
RGD:10761721
NCBI chr17:66,446,135...66,488,303
Ensembl chr17:66,446,162...66,619,250
G
Hes1
hes family bHLH transcription factor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21127729
NCBI chr11:74,312,837...74,315,249
Ensembl chr11:74,312,806...74,315,248
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Hey1
hes-related family bHLH transcription factor with YRPW motif 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21127729
NCBI chr 2:95,320,147...95,322,701
Ensembl chr 2:95,320,283...95,322,696
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Hif1a
hypoxia inducible factor 1 subunit alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12811834
NCBI chr 6:96,810,868...96,856,303
Ensembl chr 6:96,810,907...96,856,052
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Hras
HRas proto-oncogene, GTPase
severity
ISO
DNA:missense mutation:cds:p.G61L(human) 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:20979192 PMID:21686750 PMID:21834037 PMID:21850009 PMID:22087699 PMID:22317973 PMID:22495892 PMID:22499344 PMID:22683711 PMID:22926243 PMID:23093928 PMID:23429430 PMID:23751039 PMID:24033266 PMID:24129065 PMID:24169525 PMID:24224811 PMID:24803665 PMID:25157968 PMID:25741868 PMID:25914166 PMID:26619011 PMID:27195699 PMID:27589201 PMID:28027064 PMID:28139825 PMID:28492532 PMID:29493581 PMID:31394527 PMID:31775759 , PMID:20879984 , PMID:19179066
RGD:13702475 , RGD:13702872
NCBI chr 1:214,178,404...214,181,841
Ensembl chr 1:214,178,407...214,181,686
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Idh1
isocitrate dehydrogenase (NADP(+)) 1
disease_progression onset
ISO
DNA:mutation:cds:p.R132(human) ClinVar Annotator: match by term: Glioblastoma ClinVar Annotator: match by term: Glioblastoma multiforme, somatic DNA:mutation:cds:p.R132H(human)
ClinVar
PMID:18772396 PMID:19657110 PMID:19798509 PMID:19818334 PMID:20946881 PMID:21352804 PMID:21446021 PMID:22160010 PMID:22397365 PMID:22417203 PMID:22898539 PMID:23558169 PMID:24606448 PMID:25043048 PMID:25157968 PMID:25741868 PMID:26619011 , PMID:25495392 , PMID:19765000
RGD:11074562 , RGD:11522732
NCBI chr 9:71,882,108...71,911,645
Ensembl chr 9:71,882,105...71,900,044
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Il16
interleukin 16
IEP
protein:increased expression:brain
RGD
PMID:17221335
RGD:5024941
NCBI chr 1:145,781,923...145,881,538
Ensembl chr 1:145,781,928...145,870,912
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Il1b
interleukin 1 beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16356833
NCBI chr 3:121,876,256...121,882,637
Ensembl chr 3:121,876,263...121,882,726
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Il2
interleukin 2
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:7719933
NCBI chr 2:123,847,150...123,851,854
Ensembl chr 2:123,847,150...123,851,854
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Jag1
jagged canonical Notch ligand 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21127729
NCBI chr 3:130,079,361...130,114,781
Ensembl chr 3:130,079,361...130,114,770
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Jag2
jagged canonical Notch ligand 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21127729
NCBI chr 6:137,711,144...137,733,331
Ensembl chr 6:137,711,155...137,733,026
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Kcnc2
potassium voltage-gated channel subfamily C member 2
ISO
mRNA:splice variant (human)
RGD
PMID:18474104
RGD:9686067
NCBI chr 7:54,978,453...55,159,362
Ensembl chr 7:54,980,120...55,159,351
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Kras
KRAS proto-oncogene, GTPase
treatment
ISO
mRNA:decreased expression:brain
RGD
PMID:16166301 , PMID:19179066
RGD:13702861 , RGD:13702872
NCBI chr 4:179,482,562...179,515,483
Ensembl chr 4:179,486,105...179,515,558
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L1cam
L1 cell adhesion molecule
ISO
mRNA:decreased expression:brain, temporal lobe (human)
RGD
PMID:20419098
RGD:6483067
NCBI chr X:156,901,244...156,928,064
Ensembl chr X:156,909,913...156,928,057
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Lrrc56
leucine rich repeat containing 56
ISO
ClinVar Annotator: match by term: Glioblastoma
ClinVar
PMID:11150980 PMID:16155195 PMID:16170316 PMID:16329078 PMID:16372351 PMID:16443854 PMID:16835863 PMID:16881968 PMID:16969868 PMID:17054105 PMID:17412879 PMID:17979197 PMID:18039947 PMID:18247425 PMID:18978862 PMID:19206176 PMID:19371735 PMID:19382114 PMID:19669404 PMID:20660566 PMID:20979192 PMID:21686750 PMID:21834037 PMID:21850009 PMID:22087699 PMID:22317973 PMID:22495892 PMID:22499344 PMID:22683711 PMID:22926243 PMID:23093928 PMID:23429430 PMID:23751039 PMID:24033266 PMID:24129065 PMID:24169525 PMID:24224811 PMID:24803665 PMID:25157968 PMID:25741868 PMID:25914166 PMID:26619011 PMID:27195699 PMID:27589201 PMID:28027064 PMID:28139825 PMID:28492532 PMID:29493581 PMID:31394527 PMID:31775759
NCBI chr 1:214,182,232...214,197,184
Ensembl chr 1:214,182,830...214,197,184
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Lrrc59
leucine rich repeat containing 59
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30705370
NCBI chr10:82,352,390...82,367,047
Ensembl chr10:82,352,390...82,367,047
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Ltbp4
latent transforming growth factor beta binding protein 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27270107
NCBI chr 1:84,118,046...84,152,095
Ensembl chr 1:84,118,046...84,150,084
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Lztr1
leucine-zipper-like transcription regulator 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23917401
NCBI chr11:87,381,638...87,397,849
Ensembl chr11:87,381,899...87,397,498
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Macir
macrophage immunometabolism regulator
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30705370
NCBI chr 9:111,327,333...111,347,428
Ensembl chr 9:111,327,402...111,347,430
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Map1lc3a
microtubule-associated protein 1 light chain 3 alpha
treatment
ISO
RGD
PMID:24905460
RGD:11561946
NCBI chr 3:150,801,289...150,802,935
Ensembl chr 3:150,801,289...150,802,935
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Map2k2
mitogen activated protein kinase kinase 2
treatment
ISO
RGD
PMID:26189368
RGD:13702862
NCBI chr 7:11,458,971...11,478,520
Ensembl chr 7:11,458,967...11,478,489
G
Map2k3
mitogen activated protein kinase kinase 3
disease_progression
ISO
protein:increased expression, increased phosphorylation:brain
RGD
PMID:17406030
RGD:1641940
NCBI chr10:45,089,455...45,110,802
Ensembl chr10:47,182,433...47,203,753
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Mdm2
MDM2 proto-oncogene
ISO
DNA:amplication
RGD
PMID:23796897
RGD:13702089
NCBI chr 7:60,719,060...60,743,618
Ensembl chr 7:60,719,066...60,743,328
G
Mdm4
MDM4 regulator of p53
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20472715
NCBI chr13:49,786,776...49,828,780
Ensembl chr13:49,792,794...49,828,720
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Med12
mediator complex subunit 12
ISO
ClinVar Annotator: match by term: Glioblastoma
ClinVar
PMID:26822237
NCBI chr X:71,174,653...71,197,812
Ensembl chr X:71,174,699...71,197,812
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Met
MET proto-oncogene, receptor tyrosine kinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22162573
NCBI chr 4:44,747,467...44,854,628
Ensembl chr 4:44,774,741...44,852,665
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Mgmt
O-6-methylguanine-DNA methyltransferase
ISO
DNA:transition:cds:p.L84F (human) CTD Direct Evidence: marker/mechanism
CTD
PMID:20131314 PMID:22162573 , PMID:14669534
RGD:2317667
NCBI chr 1:209,237,255...209,464,189
Ensembl chr 1:209,237,233...209,464,190
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Mir21
microRNA 21
ameliorates
IMP
RGD
PMID:31730913
RGD:41404645
NCBI chr10:73,902,210...73,902,301
Ensembl chr10:73,902,210...73,902,301
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Mmp2
matrix metallopeptidase 2
severity
ISO
protein:increased expression:brain (human) CTD Direct Evidence: marker/mechanism
CTD
PMID:16598420 , PMID:7616276
RGD:7207145
NCBI chr19:15,542,771...15,570,589
Ensembl chr19:15,542,765...15,570,611
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Mmp7
matrix metallopeptidase 7
severity
ISO
protein:increased expression:brain (human)
RGD
PMID:7616276
RGD:7207145
NCBI chr 8:5,893,253...5,900,965
Ensembl chr 8:5,893,249...5,901,049
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Mmp9
matrix metallopeptidase 9
severity treatment
ISO
protein:increased expression:brain (human) CTD Direct Evidence: marker/mechanism
CTD
PMID:16598420 , PMID:7616276 , PMID:12439751
RGD:7207145 , RGD:8547973
NCBI chr 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520
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Msh2
mutS homolog 2
ISO
ClinVar Annotator: match by term: Glioblastoma
ClinVar
PMID:25741868
NCBI chr 6:11,215,951...11,274,916
Ensembl chr 6:11,215,963...11,274,932
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Mtor
mechanistic target of rapamycin kinase
ISO
ClinVar Annotator: match by term: Glioblastoma CTD Direct Evidence: marker/mechanism
ClinVar CTD
PMID:24631838 PMID:25741868 PMID:26018084 PMID:26619011 PMID:27159400 PMID:27830187 PMID:30705370
NCBI chr 5:165,263,813...165,373,967
Ensembl chr 5:165,263,800...165,373,967
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Myc
MYC proto-oncogene, bHLH transcription factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21127729
NCBI chr 7:102,586,313...102,591,240
Ensembl chr 7:102,586,313...102,591,240
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Mycn
MYCN proto-oncogene, bHLH transcription factor
ISO
ClinVar Annotator: match by term: Glioblastoma
ClinVar
PMID:26619011
NCBI chr 6:38,222,554...38,228,419
Ensembl chr 6:38,222,555...38,228,379
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Ncor1
nuclear receptor co-repressor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17312396
NCBI chr10:48,629,121...48,772,890
Ensembl chr10:48,629,121...48,772,890
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Ndrg1
N-myc downstream regulated 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15341671
NCBI chr 7:107,734,326...107,775,701
Ensembl chr 7:107,734,323...107,775,714
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Ndrg4
NDRG family member 4
ISO
mRNA, protein:decreased expression:brain
RGD
PMID:22489821
RGD:7247726
NCBI chr19:9,766,439...9,802,396
Ensembl chr19:9,766,439...9,801,942
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Nf1
neurofibromin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25119042
NCBI chr10:66,732,460...66,928,706
Ensembl chr10:66,690,133...66,928,903
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Notch1
notch receptor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21127729
NCBI chr 3:3,905,562...3,951,015
Ensembl chr 3:3,905,453...3,951,025
G
Notch2
notch receptor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21127729
NCBI chr 2:200,187,184...200,320,403
Ensembl chr 2:200,187,179...200,320,215
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Notch3
notch receptor 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21127729
NCBI chr 7:14,138,495...14,189,688
Ensembl chr 7:14,138,495...14,189,688
G
Nras
NRAS proto-oncogene, GTPase
ISO
ClinVar Annotator: match by term: Glioblastoma DNA:amplication:: DNA:mutation:cds:c.35G>A, p.G12D(human)
ClinVar
PMID:1654209 PMID:2278970 PMID:2674680 PMID:3122217 PMID:6587382 PMID:8120410 PMID:10821536 PMID:12460918 PMID:12727991 PMID:14508525 PMID:15899789 PMID:16273091 PMID:16291983 PMID:16434492 PMID:17699718 PMID:18390968 PMID:18633438 PMID:18668139 PMID:18948947 PMID:19075190 PMID:19657110 PMID:19880792 PMID: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:26619011 PMID:26821351 PMID:27050078 PMID:28492532 PMID:28780248 , PMID:11351043 , PMID:15517309
RGD:13702876 , RGD:13702875
NCBI chr 2:205,553,119...205,563,716
Ensembl chr 2:205,553,163...205,560,791
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Pdgfb
platelet derived growth factor subunit B
ISO
RGD
PMID:21210235
RGD:6482799
NCBI chr 7:121,215,458...121,233,092
Ensembl chr 7:121,214,628...121,232,741
G
Pdgfrb
platelet derived growth factor receptor beta
treatment
ISO
RGD
PMID:24566984
RGD:13702903
NCBI chr18:56,364,586...56,406,381
Ensembl chr18:56,364,620...56,406,381
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Pdpn
podoplanin
ISO
RGD
PMID:16979138
RGD:2292241
NCBI chr 5:161,947,137...161,981,441
Ensembl chr 5:161,947,137...161,981,441
G
Pecam1
platelet and endothelial cell adhesion molecule 1
ISO
RGD
PMID:21858729
RGD:6771207
NCBI chr10:94,850,971...94,913,202
G
Pgf
placental growth factor
disease_progression
ISO
RGD
PMID:20458050
RGD:6483585
NCBI chr 6:108,994,016...109,004,598
Ensembl chr 6:108,994,018...109,004,598
G
Pik3ca
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
ISO
ClinVar Annotator: match by term: Glioblastoma ClinVar Annotator: match by term: Glioblastoma multiforme, somatic
ClinVar
PMID:15016963 PMID:15254419 PMID:15520168 PMID:15608678 PMID:15647370 PMID:15805248 PMID:15930273 PMID:16353168 PMID:16906227 PMID:16930767 PMID:17376864 PMID:17673550 PMID:18371219 PMID:18676830 PMID:18725974 PMID:19029981 PMID:19223544 PMID:19366826 PMID:19513541 PMID:19671852 PMID:19903786 PMID:20177704 PMID:20453058 PMID:20619739 PMID:21430269 PMID:21558396 PMID:21824802 PMID:22120714 PMID:22162582 PMID:22162589 PMID:22209294 PMID:22271473 PMID:22357840 PMID:22658544 PMID:22729222 PMID:22729223 PMID:22729224 PMID:22949682 PMID:23066039 PMID:23100325 PMID:23246288 PMID:23408298 PMID:23888070 PMID:24033266 PMID:24265155 PMID:24559322 PMID:24782230 PMID:25157968 PMID:25741868 PMID:26266975 PMID:26266985 PMID:26619011 PMID:26822237 PMID:26851524 PMID:27626068 PMID:27631024 PMID:28492532 PMID:28941273 PMID:29446767 PMID:31568861 PMID:31775759
NCBI chr 2:118,831,350...118,861,456
Ensembl chr 2:118,831,350...118,861,454
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Pik3cb
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta
disease_progression
ISO
RGD
PMID:26956052 , PMID:21188471
RGD:11343921 , RGD:13782050
NCBI chr 8:107,275,849...107,381,088
Ensembl chr 8:107,275,725...107,380,933
G
Pik3cd
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta
disease_progression
ISO
RGD
PMID:24523440
RGD:13782051
NCBI chr 5:166,602,053...166,628,028
Ensembl chr 5:166,602,053...166,628,028
G
Pik3r1
phosphoinositide-3-kinase regulatory subunit 1
ISO
ClinVar Annotator: match by term: Glioblastoma
ClinVar
PMID:19962457 PMID:25157968 PMID:26619011
NCBI chr 2:31,742,326...31,826,882
Ensembl chr 2:31,745,088...31,826,867
G
Pim1
Pim-1 proto-oncogene, serine/threonine kinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23724780
NCBI chr20:8,165,423...8,169,557
Ensembl chr20:8,165,307...8,169,555
G
Pml
PML nuclear body scaffold
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23440206
NCBI chr 8:63,002,515...63,034,310
Ensembl chr 8:63,004,870...63,034,226
G
Pole
DNA polymerase epsilon, catalytic subunit
ISO
ClinVar Annotator: match by term: Glioblastoma
ClinVar
PMID:26619011
NCBI chr12:52,403,533...52,452,075
Ensembl chr12:52,403,529...52,452,040
G
Polk
DNA polymerase kappa
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26651356
NCBI chr 2:27,305,718...27,364,906
Ensembl chr 2:27,305,728...27,364,906
G
Pparg
peroxisome proliferator-activated receptor gamma
ISO
ClinVar Annotator: match by term: Glioblastoma, somatic
ClinVar
PMID:9467001 PMID:10523018 PMID:10851250 PMID:14671186
NCBI chr 4:147,274,055...147,399,383
Ensembl chr 4:147,274,107...147,399,380
G
Prkn
parkin RBR E3 ubiquitin protein ligase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19946270
NCBI chr 1:48,880,015...50,069,998
G
Prom1
prominin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18679414 PMID:18829568 PMID:19718438
NCBI chr14:71,532,321...71,637,400
Ensembl chr14:71,533,063...71,637,417
G
Pten
phosphatase and tensin homolog
ISO
ClinVar Annotator: match by term: Glioblastoma
ClinVar
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: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:23399955 PMID:23470840 PMID:23475934 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:16847462
RGD:2290476
NCBI chr 1:251,421,814...251,487,634
Ensembl chr 1:251,421,596...251,487,832
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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 3:15,560,685...15,582,339
Ensembl chr 3:15,560,712...15,582,344
G
Ptgs2
prostaglandin-endoperoxide synthase 2
disease_progression
ISO IEP
protein:increased expression:endothelial cell
RGD
PMID:11121536 , PMID:10229132
RGD:5688245 , RGD:5688250
NCBI chr13:67,351,230...67,356,920
Ensembl chr13:67,351,087...67,359,335
G
Ptk2
protein tyrosine kinase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12811834
NCBI chr 7:114,436,419...114,611,317
Ensembl chr 7:114,437,361...114,590,119
G
Rb1
RB transcriptional corepressor 1
severity
ISO
DNA:hypermethylation:promoter:
RGD
PMID:11204276
RGD:13782067
NCBI chr15:55,081,582...55,209,060
Ensembl chr15:55,083,140...55,209,342
G
Reck
reversion-inducing-cysteine-rich protein with kazal motifs
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:20127710
NCBI chr 5:59,348,568...59,415,169
Ensembl chr 5:59,348,639...59,415,135
G
RGD1311251
similar to RIKEN cDNA 4930550C14
ISO
ClinVar Annotator: match by term: Glioblastoma
ClinVar
PMID:9054948 PMID:19781682 PMID:23322442 PMID:25525159 PMID:25741868 PMID:26467025
NCBI chr 8:57,983,168...58,012,474
Ensembl chr 8:57,983,556...58,011,962
G
Rpl35a
ribosomal protein L35a
ISO
mRNA:increased expression:brain (human)
RGD
PMID:10880769
RGD:11535077
NCBI chr11:70,963,223...70,967,146
Ensembl chr12:7,186,473...7,186,873 Ensembl chr 5:7,186,473...7,186,873 Ensembl chr 1:7,186,473...7,186,873 Ensembl chr 6:7,186,473...7,186,873 Ensembl chr12:7,186,473...7,186,873
G
Rpl5
ribosomal protein L5
ISO
DNA:mutations:multiple (human)
RGD
PMID:26892688
RGD:11535147
NCBI chr14:2,860,963...2,867,397
Ensembl chr14:2,860,965...2,867,397
G
Runx1
RUNX family transcription factor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23582323
NCBI chr11:32,765,147...33,003,061
Ensembl chr11:32,769,165...33,003,021
G
Runx3
RUNX family transcription factor 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16909125
NCBI chr 5:153,507,093...153,531,137
Ensembl chr 5:153,507,093...153,531,137
G
Septin14
septin 14
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23917401
NCBI chr12:30,600,162...30,623,173
Ensembl chr12:30,600,957...30,621,079
G
Serping1
serpin family G member 1
treatment
IMP
RGD
PMID:28880870
RGD:13525003
NCBI chr 3:72,161,230...72,171,109
Ensembl chr 3:72,161,189...72,171,078
G
Slc22a22
solute carrier family 22 (organic cation transporter), member 22
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30705370
NCBI chr 7:97,042,176...97,071,984
Ensembl chr 7:97,040,507...97,071,968
G
Slx4
SLX4 structure-specific endonuclease subunit
ISO
ClinVar Annotator: match by term: Glioblastoma multiforme
ClinVar
PMID:25741868
NCBI chr10:11,787,756...11,808,326
Ensembl chr10:11,786,121...11,807,928
G
Srrt
serrate, RNA effector molecule
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30542699
NCBI chr12:22,457,898...22,471,090
G
Suz12
SUZ12 polycomb repressive complex 2 subunit
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25119042
NCBI chr10:67,325,101...67,371,588
Ensembl chr10:67,325,347...67,369,668
G
Tes
testin LIM domain protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16909125
NCBI chr 4:44,321,883...44,360,407
Ensembl chr 4:44,321,883...44,360,405
G
Tgm2
transglutaminase 2
ISO
CTD Direct Evidence: marker/mechanism|therapeutic
CTD
PMID:16170020 PMID:17099729
NCBI chr 3:154,597,165...154,627,257
Ensembl chr 3:154,597,168...154,627,257
G
Tmem135
transmembrane protein 135
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30705370
NCBI chr 1:152,886,496...153,096,225
Ensembl chr 1:152,886,996...153,096,269
G
Tnc
tenascin C
ISO
RGD
PMID:16928692
RGD:4889612
NCBI chr 5:79,789,686...79,874,555
Ensembl chr 5:79,789,671...79,874,671
G
Tnfsf10
TNF superfamily member 10
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:21877938
NCBI chr 2:113,008,008...113,026,899
Ensembl chr 2:113,007,549...113,026,899
G
Tp53
tumor protein p53
ISO ISS
ClinVar Annotator: match by term: Glioblastoma ClinVar Annotator: match by term: Glioblastoma, somatic
ClinVar MouseDO
PMID:1349175 PMID:1359493 PMID:1565143 PMID:1565144 PMID:1591732 PMID:1631137 PMID:1679237 PMID:1683921 PMID:1978757 PMID:2046748 PMID:2113594 PMID:2259385 PMID:2531845 PMID:2554494 PMID:2826609 PMID:7565304 PMID:7651740 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:9049183 PMID:9157982 PMID:9218725 PMID:9242456 PMID:9268986 PMID:9290701 PMID:9364015 PMID:9407971 PMID:9525742 PMID:9546439 PMID:9569050 PMID:9598730 PMID:9632751 PMID:9662334 PMID:9667734 PMID:9825943 PMID:9839505 PMID:10064694 PMID:10229196 PMID:10411893 PMID:10432928 PMID:10519380 PMID:10567903 PMID:10589545 PMID:10616528 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:12509279 PMID:12619118 PMID:12672316 PMID:12695689 PMID:12700230 PMID:12726864 PMID:12826609 PMID:12885464 PMID:12909720 PMID:12917626 PMID:14584079 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:16209708 PMID:16312222 PMID:16322298 PMID:16337994 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:17390010 PMID:17401428 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:18628487 PMID:18685109 PMID:18989156 PMID:19012332 PMID:19101993 PMID:19127115 PMID:19147582 PMID:19171880 PMID:19336573 PMID:19367569 PMID:19378321 PMID:19405127 PMID:19462533 PMID:19468865 PMID:19556618 PMID:19681600 PMID:19850740 PMID:19881536 PMID:19913028 PMID:19930417 PMID:20013323 PMID:20028212 PMID:20113312 PMID:20127978 PMID:20128691 PMID:20234365 PMID:20364130 PMID:20407015 PMID:20505364 PMID:20506564 PMID:20516128 PMID:20522432 PMID:20689556 PMID:20693561 PMID:20805372 PMID:20878954 PMID:20972454 PMID:21059199 PMID:21115975 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:21747090 PMID:21761402 PMID:22006311 PMID:22052707 PMID:22110706 PMID:22114072 PMID:22186996 PMID:22198284 PMID:22233476 PMID:22265402 PMID:22319594 PMID:22427690 PMID:22540896 PMID:22672556 PMID:22698404 PMID:22710932 PMID:22713868 PMID:22768918 PMID:22811390 PMID:22844452 PMID:22866089 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:23406775 PMID:23538418 PMID:23630318 PMID:23667202 PMID:23713777 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:24590827 PMID:24603336 PMID:24641375 PMID:24651012 PMID:24651015 PMID:24677579 PMID:24702488 PMID:24728327 PMID:24766216 PMID:24810334 PMID:24835218 PMID:25119136 PMID:25157968 PMID:25293557 PMID:25294809 PMID:25339994 PMID:25433984 PMID:25503501 PMID:25504633 PMID:25525159 PMID:25584008 PMID:25584637 PMID:25619955 PMID:25634208 PMID:25669829 PMID:25691460 PMID:25741868 PMID:25787918 PMID:25896519 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:26534844 PMID:26556299 PMID:26585234 PMID:26619011 PMID:26628864 PMID:26681312 PMID:26781615 PMID:26786923 PMID:26787237 PMID:26818906 PMID:26822237 PMID:26845104 PMID:26878390 PMID:26911350 PMID:26976419 PMID:27022024 PMID:27077130 PMID:27153395 PMID:27179933 PMID:27189670 PMID:27276561 PMID:27276934 PMID:27374712 PMID:27463065 PMID:27493922 PMID:27501770 PMID:27516001 PMID:27523101 PMID:27533082 PMID:27616075 PMID:27621308 PMID:27680515 PMID:27683180 PMID:27714481 PMID:27724982 PMID:27895058 PMID:27959731 PMID:28152038 PMID:28279309 PMID:28349240 PMID:28369373 PMID:28453743 PMID:28472496 PMID:28477316 PMID:28492532 PMID:28724667 PMID:28802053 PMID:28861920 PMID:28975465 PMID:29025599 PMID:29070607 PMID:29126202 PMID:29324801 PMID:29416011 PMID:29470806 PMID:29478780 PMID:29489754 PMID:29581140 PMID:29752822 PMID:29753700 PMID:29979965 PMID:30076369 PMID:30128536 PMID:30216591 PMID:30224644 PMID:30297838 PMID:30299350 PMID:30306255 PMID:30311369 PMID:30327374 PMID:30352134 PMID:30450585 PMID:30675318 PMID:30720243 PMID:30816478 PMID:30840781 PMID:31016814 PMID:31206626 PMID:31775759 PMID:32000721 PMID:32295079
NCBI chr10:56,186,299...56,198,449
Ensembl chr10:56,187,020...56,198,449
G
Tp53bp1
tumor protein p53 binding protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30705370
NCBI chr 3:113,160,030...113,259,701
Ensembl chr 3:113,160,000...113,231,790
G
Trmt11
tRNA methyltransferase 11 homolog
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30705370
NCBI chr 1:29,432,109...29,576,079
Ensembl chr 1:29,432,152...29,487,473
G
Vegfa
vascular endothelial growth factor A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16356833
NCBI chr 9:17,340,341...17,355,681
Ensembl chr 9:17,340,341...17,355,681
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Wt1
WT1 transcription factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20820871
NCBI chr 3:95,133,221...95,180,574
Ensembl chr 3:95,133,713...95,180,564
G
Zbtb7a
zinc finger and BTB domain containing 7a
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25875864
NCBI chr 7:11,429,266...11,446,119
Ensembl chr 7:11,432,049...11,444,786
G
Rb1
RB transcriptional corepressor 1
ISO
RNA:decreased expression:brain:
RGD
PMID:22157621
RGD:13782062
NCBI chr15:55,081,582...55,209,060
Ensembl chr15:55,083,140...55,209,342
G
Ccl2
C-C motif chemokine ligand 2
severity
ISO
mouse gene in a rat model
RGD
PMID:7489565
RGD:11526112
NCBI chr10:69,412,065...69,413,863
Ensembl chr10:69,412,017...69,413,870
G
Cyp2b3
cytochrome P450, family 2, subfamily b, polypeptide 3
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:9766669 PMID:11389073
NCBI chr 1:83,163,103...83,236,615
Ensembl chr 1:83,163,079...83,236,615
G
Cyp2c24
cytochrome P450, family 2, subfamily c, polypeptide 24
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:9766669
NCBI chr 1:258,074,797...258,139,176
Ensembl chr 1:258,074,860...258,139,176
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Plau
plasminogen activator, urokinase
severity
ISO
mouse gene in rat model
RGD
PMID:20606645
RGD:7241591
NCBI chr15:3,644,296...3,650,765
Ensembl chr15:3,644,769...3,650,819
G
Por
cytochrome p450 oxidoreductase
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:9766669
NCBI chr12:23,998,411...24,017,063
Ensembl chr12:23,998,411...24,046,814
G
Ptgs1
prostaglandin-endoperoxide synthase 1
IEP
protein:increased expression:microglia, macrophage,
RGD
PMID:10229132
RGD:5688250
NCBI chr 3:15,560,685...15,582,339
Ensembl chr 3:15,560,712...15,582,344
G
Ptgs2
prostaglandin-endoperoxide synthase 2
IEP
protein:increased expression:endothelial cell
RGD
PMID:10229132
RGD:5688250
NCBI chr13:67,351,230...67,356,920
Ensembl chr13:67,351,087...67,359,335
G
Vegfa
vascular endothelial growth factor A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16533777
NCBI chr 9:17,340,341...17,355,681
Ensembl chr 9:17,340,341...17,355,681
G
Phox2b
paired-like homeobox 2b
ISO
ClinVar Annotator: match by null
ClinVar
PMID:11953745 PMID:12438263 PMID:15024693 PMID:15338462
NCBI chr14:42,711,169...42,718,707
Ensembl chr14:42,714,315...42,717,010
G
Apc
APC regulator of WNT signaling pathway
ISO
associated with Adenomatous Polyposis Coli;DNA:mutations: : CTD Direct Evidence: marker/mechanism
CTD
PMID:7661930 , PMID:17238184
RGD:6484523
NCBI chr18:27,011,710...27,106,323
Ensembl chr18:27,047,382...27,105,531
G
Arid1a
AT-rich interaction domain 1A
ISO
ClinVar Annotator: match by term: Medulloblastoma
ClinVar
PMID:26822237
NCBI chr 5:151,904,687...151,977,973
Ensembl chr 5:151,904,684...151,977,636
G
Arid1b
AT-rich interaction domain 1B
ISO
ClinVar Annotator: match by term: Medulloblastoma
ClinVar
PMID:26822237
NCBI chr 1:45,923,119...46,232,301
Ensembl chr 1:45,923,222...46,234,874
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Atoh1
atonal bHLH transcription factor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18347096
NCBI chr 4:95,498,003...95,500,098
Ensembl chr 4:95,498,003...95,500,089
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Bap1
Brca1 associated protein 1
ISO
ClinVar Annotator: match by term: Medulloblastoma
ClinVar
PMID:25741868 PMID:26719535 PMID:28492532
NCBI chr16:7,336,685...7,345,511
Ensembl chr16:7,336,685...7,345,511
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Brca2
BRCA2, DNA repair associated
ISO
ClinVar Annotator: match by term: Medulloblastoma ClinVar Annotator: match by term: Medulloblastoma, somatic
OMIM ClinVar
PMID:8673090 PMID:9150172 PMID:9667259 PMID:9792861 PMID:10644434 PMID:11149425 PMID:11179017 PMID:11307153 PMID:11802209 PMID:12373604 PMID:14559878 PMID:14647210 PMID:14670928 PMID:15070707 PMID:15131399 PMID:15340362 PMID:15382066 PMID:15689453 PMID:15800311 PMID:16168118 PMID:16683254 PMID:16825431 PMID:16912212 PMID:17148771 PMID:17513806 PMID:17688236 PMID:17972171 PMID:18042939 PMID:18465347 PMID:18703817 PMID:19016756 PMID:19471317 PMID:19654294 PMID:19863560 PMID:20104584 PMID:20167696 PMID:20694749 PMID:20736950 PMID:20858050 PMID:21120943 PMID:21205087 PMID:21324516 PMID:21709188 PMID:21913181 PMID:22006311 PMID:22009639 PMID:22217648 PMID:22535016 PMID:22666503 PMID:22762150 PMID:22798144 PMID:22923021 PMID:23199084 PMID:23318356 PMID:23415752 PMID:23569316 PMID:23621881 PMID:23767878 PMID:24033266 PMID:24055113 PMID:24156927 PMID:24504028 PMID:24728189 PMID:24830819 PMID:25066507 PMID:25085752 PMID:25136594 PMID:25186627 PMID:25525159 PMID:25637381 PMID:25737278 PMID:25741868 PMID:25802882 PMID:25863477 PMID:26064523 PMID:26187060 PMID:26295337 PMID:26439132 PMID:26467025 PMID:26541979 PMID:26657402 PMID:26681312 PMID:26845104 PMID:27153395 PMID:27257965 PMID:27376475 PMID:27732944 PMID:27741520 PMID:27767231 PMID:27831900 PMID:28008555 PMID:28039656 PMID:28294317 PMID:28324225 PMID:28492532 PMID:28541631 PMID:28616458 PMID:28724667 PMID:28915716 PMID:28973083 PMID:29339979 PMID:29360161 PMID:29371908 PMID:29478780 PMID:29492181 PMID:29753700 PMID:29907814 PMID:29909963 PMID:30287823 PMID:30350268 PMID:32295079 , PMID:17476307
RGD:11038793
NCBI chr12:503,660...544,754
Ensembl chr12:504,007...544,748
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Brd2
bromodomain containing 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24231268
NCBI chr20:3,910,555...3,921,074
Ensembl chr20:3,910,555...3,917,426 Ensembl chr20:3,910,555...3,917,426
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Brd3
bromodomain containing 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24231268
NCBI chr 3:5,995,204...6,054,467
Ensembl chr 3:5,997,315...6,054,483
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Brd4
bromodomain containing 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24231268
NCBI chr 7:14,222,101...14,303,055
Ensembl chr 7:14,222,101...14,303,055
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Ccnd1
cyclin D1
ISO
RGD
PMID:16943274
RGD:13681932
NCBI chr 1:218,090,750...218,100,447
Ensembl chr 1:218,090,750...218,100,325
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Ccne1
cyclin E1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19270706
NCBI chr 1:94,485,830...94,495,112
Ensembl chr 1:94,485,832...94,494,980
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Cdk6
cyclin-dependent kinase 6
disease_progression
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19270706 PMID:23138228 , PMID:16314645
RGD:13702096
NCBI chr 4:27,781,728...27,969,653
Ensembl chr 4:27,785,647...27,966,398
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Crebbp
CREB binding protein
ISO
ClinVar Annotator: match by term: Medulloblastoma ClinVar Annotator: match by term: Medulloblastoma, somatic
ClinVar
PMID:21390126 PMID:21680795 PMID:21796119 PMID:22832583 PMID:23334668 PMID:23685749 PMID:23778141 PMID:26087898 PMID:26619011 PMID:27257180 PMID:28492532 PMID:29551561
NCBI chr10:11,590,994...11,721,039
Ensembl chr10:11,595,044...11,721,039
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Ctnnb1
catenin beta 1
ISO
ClinVar Annotator: match by term: Medulloblastoma ClinVar Annotator: match by term: Medulloblastoma, somatic
ClinVar OMIM
PMID:9065402 PMID:9065403 PMID:9294210 PMID:9927029 PMID:10027390 PMID:10192393 PMID:10391090 PMID:10666372 PMID:11351304 PMID:11930117 PMID:11950921 PMID:12124804 PMID:15133491 PMID:19234609 PMID:23265383 PMID:25157968 PMID:25326635 PMID:25326669 PMID:25741868 PMID:26619011 PMID:26822237 PMID:27959697
NCBI chr 8:129,601,511...129,628,378
Ensembl chr 8:129,617,812...129,627,372
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Ddx3x
DEAD-box helicase 3, X-linked
ISO
ClinVar Annotator: match by term: Medulloblastoma
ClinVar
PMID:26822237
NCBI chr X:10,400,363...10,414,010
Ensembl chr X:10,400,366...10,413,995
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Dicer1
dicer 1 ribonuclease III
ISO
ClinVar Annotator: match by term: Medulloblastoma
ClinVar
PMID:25741868
NCBI chr 6:128,388,084...128,453,234
Ensembl chr 6:128,388,053...128,434,183
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Dnmt1
DNA methyltransferase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19155313
NCBI chr 8:21,922,515...21,968,495
Ensembl chr 8:21,922,515...21,968,495
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Ehmt1
euchromatic histone lysine methyltransferase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19270706
NCBI chr 3:1,966,974...2,123,858
Ensembl chr 3:1,960,957...2,123,820
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Ep300
E1A binding protein p300
ISO
ClinVar Annotator: match by term: Medulloblastoma
ClinVar
PMID:26619011
NCBI chr 7:122,818,194...122,889,055
Ensembl chr 7:122,818,975...122,861,296
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Erbb2
erb-b2 receptor tyrosine kinase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20168248
NCBI chr10:86,367,596...86,391,728
Ensembl chr10:86,367,596...86,391,728
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Esr2
estrogen receptor 2
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:21351254
NCBI chr 6:99,163,953...99,214,711
Ensembl chr 6:99,164,357...99,214,251
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Fbxw7
F-box and WD repeat domain containing 7
ISO
ClinVar Annotator: match by term: Medulloblastoma
ClinVar
PMID:26619011
NCBI chr 2:184,230,191...184,309,805
Ensembl chr 2:184,231,260...184,309,664
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Fgfr1
Fibroblast growth factor receptor 1
ISO
ClinVar Annotator: match by term: Medulloblastoma ClinVar Annotator: match by term: Medulloblastoma, somatic
ClinVar
PMID:10766980 PMID:23819449 PMID:25705862 PMID:26619011 PMID:26822237 PMID:26942290 PMID:27626068
NCBI chr16:71,265,390...71,319,046
Ensembl chr16:71,266,248...71,319,449
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Fli1
Fli-1 proto-oncogene, ETS transcription factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19270706
NCBI chr 8:33,541,932...33,661,111
Ensembl chr 8:33,543,258...33,661,049
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Foxo3
forkhead box O3
ISO
ClinVar Annotator: match by term: Medulloblastoma
ClinVar
PMID:26822237
NCBI chr20:46,428,078...46,519,156
Ensembl chr20:46,428,124...46,519,144
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Gstm1
glutathione S-transferase mu 1
ISO
DNA:deletion: :
RGD
PMID:18952980
RGD:5490237
NCBI chr 2:210,803,869...210,809,461
Ensembl chr 2:210,803,869...210,809,306
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Gstt1
glutathione S-transferase theta 1
ISO
DNA:deletion: :
RGD
PMID:18952980
RGD:5490237
NCBI chr20:13,799,102...13,816,527
Ensembl chr20:13,799,102...13,816,526
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Hic1
HIC ZBTB transcriptional repressor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18347096
NCBI chr10:62,007,150...62,010,774
Ensembl chr10:62,007,150...62,009,582
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Idh1
isocitrate dehydrogenase (NADP(+)) 1
ISO
ClinVar Annotator: match by term: Medulloblastoma ClinVar Annotator: match by term: Medulloblastoma, somatic
ClinVar
PMID:18772396 PMID:19657110 PMID:19798509 PMID:19818334 PMID:20946881 PMID:21352804 PMID:21446021 PMID:22160010 PMID:22397365 PMID:22417203 PMID:22898539 PMID:23558169 PMID:24606448 PMID:25043048 PMID:25157968 PMID:25741868 PMID:26619011
NCBI chr 9:71,882,108...71,911,645
Ensembl chr 9:71,882,105...71,900,044
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Ifng
interferon gamma
ISS
OMIM:155255
MouseDO
NCBI chr 7:61,337,383...61,341,419
Ensembl chr 7:61,337,381...61,341,419
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Irs2
insulin receptor substrate 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19270706
NCBI chr16:83,824,515...83,848,569
Ensembl chr16:83,824,430...83,848,684
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Kat6a
lysine acetyltransferase 6A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19270706
NCBI chr16:73,942,669...74,020,750
Ensembl chr16:73,943,455...74,023,005
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Kdm4b
lysine demethylase 4B
ISO
mRNA:increased expression:brain (human) CTD Direct Evidence: marker/mechanism
CTD
PMID:19270706 , PMID:19270706
RGD:9587481
NCBI chr 9:10,656,035...10,734,127
Ensembl chr 9:10,653,216...10,734,073
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Kdm4c
lysine demethylase 4C
ISO
mRNA:increased expression:brain (human) CTD Direct Evidence: marker/mechanism
CTD
PMID:19270706 , PMID:19270706
RGD:9587481
NCBI chr 5:90,800,139...91,012,662
Ensembl chr 5:90,800,082...91,012,659
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L3mbtl2
L3MBTL histone methyl-lysine binding protein 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19270706
NCBI chr 7:122,896,860...122,918,025
Ensembl chr 7:122,896,871...122,918,036
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L3mbtl3
L3MBTL histone methyl-lysine binding protein 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19270706
NCBI chr 1:19,998,776...20,097,298
Ensembl chr 1:20,022,793...20,097,099
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Mpl
MPL proto-oncogene, thrombopoietin receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19270706
NCBI chr 5:137,268,412...137,282,032
Ensembl chr 5:137,269,480...137,281,298
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Myc
MYC proto-oncogene, bHLH transcription factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19270706
NCBI chr 7:102,586,313...102,591,240
Ensembl chr 7:102,586,313...102,591,240
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Mycl
MYCL proto-oncogene, bHLH transcription factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19270706
NCBI chr 5:140,691,947...140,698,837
Ensembl chr 5:140,692,779...140,698,609
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Mycn
MYCN proto-oncogene, bHLH transcription factor
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Medulloblastoma
CTD ClinVar
PMID:19270706 PMID:26619011
NCBI chr 6:38,222,554...38,228,419
Ensembl chr 6:38,222,555...38,228,379
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Nono
non-POU domain containing, octamer-binding
ISO
ClinVar Annotator: match by term: Medulloblastoma
ClinVar
PMID:26822237
NCBI chr X:71,324,365...71,342,225
Ensembl chr X:71,324,365...71,342,225
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Nras
NRAS proto-oncogene, GTPase
ISO
ClinVar Annotator: match by term: Medulloblastoma
ClinVar
PMID:2407301 PMID:2674680 PMID:2989702 PMID:3102434 PMID:8120410 PMID:16291983 PMID:17332249 PMID:17517660 PMID:18375819 PMID:18390968 PMID:18633438 PMID:19657110 PMID:19775298 PMID:20130576 PMID:20179705 PMID:21079152 PMID:22962325 PMID:23414587 PMID:23431193 PMID:25157968 PMID:26619011
NCBI chr 2:205,553,119...205,563,716
Ensembl chr 2:205,553,163...205,560,791
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Otx2
orthodenticle homeobox 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19270706
NCBI chr15:25,500,037...25,511,619
Ensembl chr15:25,502,019...25,505,691
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Pdgfra
platelet derived growth factor receptor alpha
severity
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19270706 , PMID:25576913
RGD:13702904
NCBI chr14:35,527,926...35,581,130
Ensembl chr14:35,527,927...35,581,031
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Pik3ca
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
ISO
ClinVar Annotator: match by term: Medulloblastoma ClinVar Annotator: match by term: Medulloblastoma, somatic
ClinVar
PMID:15016963 PMID:15254419 PMID:15520168 PMID:15608678 PMID:15647370 PMID:15805248 PMID:16353168 PMID:16906227 PMID:16930767 PMID:17376864 PMID:17673550 PMID:18371219 PMID:18676830 PMID:18725974 PMID:19029981 PMID:19223544 PMID:19366826 PMID:19513541 PMID:19671852 PMID:19903786 PMID:20177704 PMID:20453058 PMID:20619739 PMID:21430269 PMID:21558396 PMID:21824802 PMID:22162582 PMID:22162589 PMID:22271473 PMID:22658544 PMID:22729222 PMID:22729224 PMID:23100325 PMID:24033266 PMID:24782230 PMID:25157968 PMID:25741868 PMID:26266975 PMID:26266985 PMID:26619011 PMID:26822237 PMID:27626068 PMID:27631024 PMID:28492532 PMID:29446767 PMID:31775759
NCBI chr 2:118,831,350...118,861,456
Ensembl chr 2:118,831,350...118,861,454
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Pik3cg
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21652733
NCBI chr 6:51,465,696...51,501,234
Ensembl chr 6:51,465,908...51,498,337
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Prame
PRAME nuclear receptor transcriptional regulator
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16179254
NCBI chr X:106,082,984...106,091,256
Ensembl chr X:106,083,203...106,085,878
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Prkar1a
protein kinase cAMP-dependent type I regulatory subunit alpha
ISO
ClinVar Annotator: match by term: Medulloblastoma
ClinVar
PMID:26822237 PMID:28492532
NCBI chr10:97,940,705...97,959,199
Ensembl chr10:97,940,705...97,957,336
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Ptch1
patched 1
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Medulloblastoma
CTD ClinVar
PMID:18347096 PMID:19155313 PMID:19213072 PMID:25741868 PMID:28492532
NCBI chr17:1,032,242...1,085,885
Ensembl chr17:1,029,048...1,093,873
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Ptch2
patched 2
ISO
OMIM
NCBI chr 5:135,962,252...135,983,816
Ensembl chr 5:135,962,911...135,983,816
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Rassf1
Ras association domain family member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21880625
NCBI chr 8:116,307,149...116,318,289
Ensembl chr 8:116,307,141...116,318,289
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Rb1
RB transcriptional corepressor 1
ISO
ClinVar Annotator: match by term: Medulloblastoma
ClinVar
PMID:25741868 PMID:28492532 , PMID:10783170
RGD:1302544
NCBI chr15:55,081,582...55,209,060
Ensembl chr15:55,083,140...55,209,342
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Ret
ret proto-oncogene
ISO
ClinVar Annotator: match by term: Medulloblastoma
ClinVar
PMID:11436122 PMID:24033266 PMID:25741868 PMID:28492532
NCBI chr 4:150,202,170...150,249,196
Ensembl chr 4:150,202,058...150,244,372
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S100a10
S100 calcium binding protein A10
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17579622
NCBI chr 2:193,892,589...193,901,236
Ensembl chr 2:193,892,589...193,901,236
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S100a4
S100 calcium-binding protein A4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17579622
NCBI chr 2:189,997,278...189,999,587
Ensembl chr 2:189,997,129...189,999,604
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S100a6
S100 calcium binding protein A6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17579622
NCBI chr 2:190,007,013...190,008,512
Ensembl chr 2:190,007,216...190,008,511
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Scg5
secretogranin V
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17334394
NCBI chr 3:105,235,065...105,279,475
Ensembl chr 3:105,235,050...105,279,462
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Scml2
Scm polycomb group protein like 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19270706
NCBI chr X:35,305,235...35,431,271
Ensembl chr X:35,305,236...35,431,164
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Sf3b2
splicing factor 3b, subunit 2
ISO
ClinVar Annotator: match by term: Medulloblastoma
ClinVar
PMID:26619011
NCBI chr 1:220,645,685...220,665,611
Ensembl chr 1:220,645,672...220,665,603
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Skp2
S-phase kinase associated protein 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19270706
NCBI chr 2:58,506,146...58,534,211
Ensembl chr 2:58,506,151...58,534,211
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Smarca4
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4
ISO
ClinVar Annotator: match by term: Medulloblastoma
ClinVar
PMID:26822237
NCBI chr 8:22,648,323...22,739,468
Ensembl chr 8:22,648,323...22,739,468
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Smo
smoothened, frizzled class receptor
ISO ISS
ClinVar Annotator: match by term: Medulloblastoma OMIM:155255
ClinVar MouseDO
PMID:19726788 PMID:22679179 PMID:25759020
NCBI chr 4:57,019,941...57,041,779
Ensembl chr 4:57,019,941...57,042,770
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Smyd4
SET and MYND domain containing 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19270706
NCBI chr10:62,191,669...62,237,939
Ensembl chr10:62,191,656...62,238,113
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Stat3
signal transducer and activator of transcription 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19001435
NCBI chr10:88,790,401...88,842,263
Ensembl chr10:88,790,408...88,842,233
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Strada
STE20 related adaptor alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21652733
NCBI chr10:94,355,369...94,384,404
Ensembl chr10:94,355,384...94,384,339
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Sufu
SUFU negative regulator of hedgehog signaling
ISO
ClinVar Annotator: match by term: Medulloblastoma, desmoplastic ClinVar Annotator: match by OMIM:155255 ClinVar Annotator: match by term: Medulloblastoma, desmoplastic, UMLS MESH term: Arachnoidal Cerebellar Sarcoma, Circumscribed
ClinVar OMIM
PMID:12068298 PMID:19533801 PMID:19833601 PMID:21188540 PMID:22508808 PMID:24728327 PMID:25326637 PMID:25403219 PMID:25741868 PMID:28492532 PMID:29641532 , PMID:12068298
RGD:1599191
NCBI chr 1:266,143,766...266,241,742
Ensembl chr 1:266,143,818...266,239,016
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Tp53
tumor protein p53
disease_progression
ISO
ClinVar Annotator: match by term: Medulloblastoma, somatic protein:increased expression:nucleus:
ClinVar
PMID:1359493 PMID:1565143 PMID:1565144 PMID:1631137 PMID:1644930 PMID:1683921 PMID:1737852 PMID:1978757 PMID:2046748 PMID:2826609 PMID:7732013 PMID:7887414 PMID:8062826 PMID:8099841 PMID:8164043 PMID:8423216 PMID:8425176 PMID:8479749 PMID:8527048 PMID:8825920 PMID:9096669 PMID:9242456 PMID:9290701 PMID:9407971 PMID:9546439 PMID:9569050 PMID:9598730 PMID:9632751 PMID:9635828 PMID:9825943 PMID:10411893 PMID:10797439 PMID:10864200 PMID:11051239 PMID:11139324 PMID:11180592 PMID:11370630 PMID:11479205 PMID:11782540 PMID:11793474 PMID:11920959 PMID:12007217 PMID:12672316 PMID:12826609 PMID:12917626 PMID:15004724 PMID:15017592 PMID:15037740 PMID:15381368 PMID:15390294 PMID:15607980 PMID:15607981 PMID:15722483 PMID:15825182 PMID:15951970 PMID:16401470 PMID:16489069 PMID:16682957 PMID:16818505 PMID:16861262 PMID:17417627 PMID:17427234 PMID:17540308 PMID:17606709 PMID:17636407 PMID:18511570 PMID:18685109 PMID:19378321 PMID:19556618 PMID:20013323 PMID:20113312 PMID:20128691 PMID:20407015 PMID:20516128 PMID:20522432 PMID:20693561 PMID:21187651 PMID:21305319 PMID:21319261 PMID:21343334 PMID:21484931 PMID:21519010 PMID:21535297 PMID:21552135 PMID:21601526 PMID:21761402 PMID:22006311 PMID:22110706 PMID:22186996 PMID:22233476 PMID:22265402 PMID:22710932 PMID:22713868 PMID:22811390 PMID:22899716 PMID:22915647 PMID:22919068 PMID:22983585 PMID:23161690 PMID:23165212 PMID:23172776 PMID:23175693 PMID:23246812 PMID:23263379 PMID:23538418 PMID:23667202 PMID:23792586 PMID:23950206 PMID:24033266 PMID:24038938 PMID:24381225 PMID:24487413 PMID:24501221 PMID:24573247 PMID:24603336 PMID:24641375 PMID:24651012 PMID:24651015 PMID:24677579 PMID:24810334 PMID:25157968 PMID:25339994 PMID:25525159 PMID:25584008 PMID:25741868 PMID:25787918 PMID:25925845 PMID:25927356 PMID:25952993 PMID:26014290 PMID:26024390 PMID:26230955 PMID:26467025 PMID:26585234 PMID:26619011 PMID:26681312 PMID:26787237 PMID:26822237 PMID:26845104 PMID:27276561 PMID:27374712 PMID:27463065 PMID:27533082 PMID:27680515 PMID:27683180 PMID:27724982 PMID:27895058 PMID:27959731 PMID:28152038 PMID:28369373 PMID:28453743 PMID:28472496 PMID:28492532 PMID:28724667 PMID:28861920 PMID:28915717 PMID:29025599 PMID:29416011 PMID:29478780 PMID:29489754 PMID:29752822 PMID:30076369 PMID:30224644 PMID:30327374 PMID:30816478 PMID:31775759 PMID:32000721 , PMID:10783170 , PMID:11451203
RGD:1302544 , RGD:8547823
NCBI chr10:56,186,299...56,198,449
Ensembl chr10:56,187,020...56,198,449
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Tsc2
TSC complex subunit 2
ISO
DNA:polymorphism:intron
RGD
PMID:11603814
RGD:11072879
NCBI chr10:13,962,006...13,996,684
Ensembl chr10:13,961,947...13,996,584
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Vav1
vav guanine nucleotide exchange factor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19270706
NCBI chr 9:9,617,551...9,675,167
Ensembl chr 9:9,617,786...9,675,110
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Wrn
WRN RecQ like helicase
ISO
ClinVar Annotator: match by term: Medulloblastoma
ClinVar
PMID:8968742 PMID:9225981 PMID:16673358 PMID:16786514 PMID:24033266 PMID:25182132 PMID:25390333 PMID:25741868 PMID:28492532
NCBI chr16:62,483,773...62,619,018
Ensembl chr16:62,483,761...62,615,375
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Cdkn2a
cyclin-dependent kinase inhibitor 2A
ISO
ClinVar Annotator: match by term: Melanoma and neural system tumor syndrome ClinVar Annotator: match by term: Melanoma astrocytoma syndrome
OMIM ClinVar
PMID:7718873 PMID:8570179 PMID:9166859 PMID:9425228 PMID:9516223 PMID:9699728 PMID:9916806 PMID:10390011 PMID:10398427 PMID:10738302 PMID:10951521 PMID:11136714 PMID:11556834 PMID:11595726 PMID:11815963 PMID:15146471 PMID:15945100 PMID:16234564 PMID:16397522 PMID:16818274 PMID:16896043 PMID:16905682 PMID:17047042 PMID:17218939 PMID:17713569 PMID:18025365 PMID:18337833 PMID:18363633 PMID:18519632 PMID:18843795 PMID:19523171 PMID:20093296 PMID:20340136 PMID:21150883 PMID:21462282 PMID:21801156 PMID:23190892 PMID:24185512 PMID:25186627 PMID:25356972 PMID:25741868 PMID:25780468 PMID:26104880 PMID:26206375 PMID:26225579 PMID:26467025 PMID:26581427 PMID:26681309 PMID:26775776 PMID:26845104 PMID:27756164 PMID:27960642 PMID:28492532 PMID:28765326 PMID:28830827 PMID:29263814 PMID:30038052
NCBI chr 5:107,823,323...107,832,405
Ensembl chr 5:107,823,330...107,841,175
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Abcb1a
ATP binding cassette subfamily B member 1A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:8761367
NCBI chr 4:22,339,829...22,517,642
Ensembl chr 4:22,133,521...22,425,515
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Alk
ALK receptor tyrosine kinase
ISO
ClinVar Annotator: match by OMIM:613014 ClinVar Annotator: match by term: Neuroblastoma ClinVar Annotator: match by term: NEUROBLASTOMA, SUSCEPTIBILITY TO, 3 ClinVar Annotator: match by term: Neuroblastoma Susceptibility CTD Direct Evidence: marker/mechanism
ClinVar CTD
PMID:2124297 PMID:18724359 PMID:18923523 PMID:18923524 PMID:18923525 PMID:18990089 PMID:20576349 PMID:21030459 PMID:21242967 PMID:21575866 PMID:21823617 PMID:21838707 PMID:21859094 PMID:21948233 PMID:22071890 PMID:22072639 PMID:22277784 PMID:22286764 PMID:22588779 PMID:22789543 PMID:22920921 PMID:22932897 PMID:22968692 PMID:23104988 PMID:23334666 PMID:24327273 PMID:25517749 PMID:25741868 PMID:26619011 PMID:28492532
NCBI chr 6:22,696,415...23,203,791
Ensembl chr 6:22,696,397...23,203,775
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Alox5ap
arachidonate 5-lipoxygenase activating protein
ISO
mRNA, protein:increased expression:neuroblastoma (human)
RGD
PMID:18591367
RGD:2313903
NCBI chr12:6,854,930...6,879,112
Ensembl chr12:6,854,920...6,879,154
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Arid1a
AT-rich interaction domain 1A
ISO
CTD Direct Evidence: marker/mechanism DNA:mutations,loss of heterozygosity: :
CTD
PMID:23202128 , PMID:23202128
RGD:13439724
NCBI chr 5:151,904,687...151,977,973
Ensembl chr 5:151,904,684...151,977,636
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Arid1b
AT-rich interaction domain 1B
ISO
CTD Direct Evidence: marker/mechanism DNA:deletion,haploinsufficiency: :
CTD
PMID:23202128 , PMID:23202128
RGD:13439724
NCBI chr 1:45,923,119...46,232,301
Ensembl chr 1:45,923,222...46,234,874
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Atrx
ATRX, chromatin remodeler
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23334666 PMID:26523776
NCBI chr X:76,820,110...76,979,155
Ensembl chr X:76,692,970...76,708,878 Ensembl chr X:76,692,970...76,708,878
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Aurka
aurora kinase A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22588779
NCBI chr 3:170,364,177...170,380,278
Ensembl chr 3:170,364,181...170,378,210
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Bard1
BRCA1 associated RING domain 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19412175 PMID:23334666
NCBI chr 9:78,297,723...78,368,777
Ensembl chr 9:78,294,834...78,369,031
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Bche
butyrylcholinesterase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:2317787
NCBI chr 2:171,104,476...171,196,186
Ensembl chr 2:171,100,140...171,196,395
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Brca1
BRCA1, DNA repair associated
ISO
ClinVar Annotator: match by term: Neuroblastoma
ClinVar
PMID:15385441 PMID:16267036 PMID:25741868 PMID:26287763 PMID:26467025 PMID:28492532 PMID:30883245
NCBI chr10:89,394,821...89,455,093
Ensembl chr10:89,394,803...89,454,681
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Brca2
BRCA2, DNA repair associated
ISO
ClinVar Annotator: match by term: Neuroblastoma
ClinVar
PMID:16284991 PMID:19043619 PMID:20127978 PMID:21702907 PMID:22034289 PMID:22711857 PMID:24163242 PMID:25741868 PMID:26467025 PMID:26822237 PMID:28492532 PMID:29884841 PMID:30287823
NCBI chr12:503,660...544,754
Ensembl chr12:504,007...544,748
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Cd55
CD55 molecule (Cromer blood group)
IMP
RGD
PMID:10850450
RGD:2326181
NCBI chr13:47,125,156...47,153,557
Ensembl chr13:47,126,741...47,154,292
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Cdkn2a
cyclin-dependent kinase inhibitor 2A
treatment
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15814359 , PMID:24714808
RGD:10043806
NCBI chr 5:107,823,323...107,832,405
Ensembl chr 5:107,823,330...107,841,175
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Chaf1a
chromatin assembly factor 1 subunit A
disease_progression
ISO
mRNA:increased expression: :
RGD
PMID:24335960 , PMID:24335960
RGD:9587458 , RGD:9587458
NCBI chr 9:11,000,869...11,027,631
Ensembl chr 9:11,001,129...11,027,506
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Chd5
chromodomain helicase DNA binding protein 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26121086
NCBI chr 5:169,519,212...169,572,059
Ensembl chr 5:169,519,212...169,567,107
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Chd6
chromodomain helicase DNA binding protein 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18577749
NCBI chr 3:156,937,746...157,099,328
Ensembl chr 3:156,937,733...157,099,306
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Chek2
checkpoint kinase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23334666
NCBI chr12:51,845,574...51,878,098
Ensembl chr12:51,845,796...51,877,624
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Dbh
dopamine beta-hydroxylase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25174395
NCBI chr 3:5,709,236...5,731,895
Ensembl chr 3:5,709,236...5,731,898
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Dock8
dedicator of cytokinesis 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26121086
NCBI chr 1:242,934,685...243,153,472
Ensembl chr 1:242,959,488...243,153,465
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Esr1
estrogen receptor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27366082
NCBI chr 1:41,192,029...41,594,799
Ensembl chr 1:41,192,824...41,594,796
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Fanca
FA complementation group A
ISO
ClinVar Annotator: match by term: Neuroblastoma
ClinVar
PMID:15059067 PMID:24584348 PMID:27041517
NCBI chr19:56,067,548...56,126,075
Ensembl chr19:56,067,548...56,126,063
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Fgfr1
Fibroblast growth factor receptor 1
ISO
ClinVar Annotator: match by term: Neuroblastoma ClinVar Annotator: match by term: NEUROBLASTOMA, SUSCEPTIBILITY TO
ClinVar
PMID:10766980 PMID:23819449 PMID:26619011 PMID:26822237 PMID:26942290 PMID:27626068
NCBI chr16:71,265,390...71,319,046
Ensembl chr16:71,266,248...71,319,449
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Fgfr3
fibroblast growth factor receptor 3
ISO
ClinVar Annotator: match by term: Neuroblastoma
ClinVar
PMID:26822237
NCBI chr14:82,272,322...82,287,739
Ensembl chr14:82,273,070...82,287,706
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Gata3
GATA binding protein 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30127528
NCBI chr17:72,419,752...72,452,043
Ensembl chr17:72,429,618...72,450,681
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Gnas
GNAS complex locus
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20862257
NCBI chr 3:172,374,957...172,434,988
Ensembl chr 3:172,374,957...172,428,483 Ensembl chr 3:172,374,957...172,428,483
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Hace1
HECT domain and ankyrin repeat containing, E3 ubiquitin protein ligase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22941191
NCBI chr20:50,652,489...50,783,937
Ensembl chr20:50,652,745...50,783,937
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Hand2
heart and neural crest derivatives expressed 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30127528
NCBI chr16:36,371,489...36,373,551
Ensembl chr16:36,371,489...36,373,546
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Hgf
hepatocyte growth factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16051641
NCBI chr 4:15,435,460...15,505,377
Ensembl chr 4:15,433,295...15,505,362
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Hras
HRas proto-oncogene, GTPase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15814359 PMID:26121086
NCBI chr 1:214,178,404...214,181,841
Ensembl chr 1:214,178,407...214,181,686
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Ifnb1
interferon beta 1
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:16115947
NCBI chr 5:106,865,192...106,865,746
Ensembl chr 5:106,865,192...106,865,746
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Igf1r
insulin-like growth factor 1 receptor
ISO
protein: decreased tyrosine phosphorylation: : Y1131
RGD
PMID:17121898
RGD:7242922
NCBI chr 1:128,924,921...129,213,816
Ensembl chr 1:128,924,966...129,206,516
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Il18
interleukin 18
susceptibility
ISO
RGD
PMID:16428511
RGD:8655920
NCBI chr 8:55,009,666...55,016,286
Ensembl chr 8:54,993,859...55,016,299
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Isl1
ISL LIM homeobox 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30127528
NCBI chr 2:48,488,911...48,501,217
Ensembl chr 2:48,487,736...48,501,436
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Kif1b
kinesin family member 1B
susceptibility
ISO
ClinVar Annotator: match by term: NEUROBLASTOMA, SUSCEPTIBILITY TO, 1 ClinVar Annotator: match by term: Neuroblastoma CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by OMIM:256700
ClinVar CTD OMIM
PMID:18334619 PMID:18726616 PMID:24033266 PMID:24469107 PMID:25741868 PMID:28492532
NCBI chr 5:165,994,803...166,133,497
Ensembl chr 5:165,938,576...166,133,491
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Kras
KRAS proto-oncogene, GTPase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26121086
NCBI chr 4:179,482,562...179,515,483
Ensembl chr 4:179,486,105...179,515,558
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Lin28b
lin-28 homolog B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22941191 PMID:23042116
NCBI chr20:50,482,536...50,580,273
Ensembl chr20:50,486,809...50,564,987
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Map2k4
mitogen activated protein kinase kinase 4
ISO
ClinVar Annotator: match by term: Neuroblastoma
ClinVar
PMID:26822237
NCBI chr10:52,196,121...52,301,887
Ensembl chr10:52,196,124...52,290,657
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Map2k7
mitogen activated protein kinase kinase 7
ISO
ClinVar Annotator: match by term: Neuroblastoma
ClinVar
PMID:26822237
NCBI chr12:2,546,278...2,555,310
Ensembl chr12:2,548,218...2,555,164
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Men1
menin 1
ISO
ClinVar Annotator: match by term: Neuroblastoma
ClinVar
PMID:25741868
NCBI chr 1:221,704,394...221,710,343
Ensembl chr 1:221,704,493...221,710,331
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Met
MET proto-oncogene, receptor tyrosine kinase
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Neuroblastoma
CTD ClinVar
PMID:16051641 PMID:26822237
NCBI chr 4:44,747,467...44,854,628
Ensembl chr 4:44,774,741...44,852,665
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Mt-co2
mitochondrially encoded cytochrome c oxidase II
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15492235
NCBI chr MT:7,006...7,689
Ensembl chr MT:7,006...7,689
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Mtfp1
mitochondrial fission process 1
severity
ISO
mRNA:increased expression:neural tissue (human)
RGD
PMID:27765905
RGD:12880392
NCBI chr14:84,330,223...84,334,063
Ensembl chr14:84,330,218...84,334,066
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Myc
MYC proto-oncogene, bHLH transcription factor
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: NEUROBLASTOMA, SUSCEPTIBILITY TO
CTD ClinVar
PMID:8761367 PMID:25157968 PMID:26619011
NCBI chr 7:102,586,313...102,591,240
Ensembl chr 7:102,586,313...102,591,240
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Mycn
MYCN proto-oncogene, bHLH transcription factor
ISO
ClinVar Annotator: match by term: Neuroblastoma CTD Direct Evidence: marker/mechanism
ClinVar CTD
PMID:16051641 PMID:16989911 PMID:17283129 PMID:18353067 PMID:22286764 PMID:22789543 PMID:23042116 PMID:23334666 PMID:23500671 PMID:25174395 PMID:26523776 PMID:26619011 PMID:26733615 PMID:29379199 PMID:30127528
NCBI chr 6:38,222,554...38,228,419
Ensembl chr 6:38,222,555...38,228,379
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Nme1
NME/NM23 nucleoside diphosphate kinase 1
ISO
RGD
PMID:8047138
RGD:1600229
NCBI chr10:81,657,152...81,666,542
Ensembl chr10:81,657,153...81,666,523
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Nnat
neuronatin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17762496
NCBI chr 3:154,043,873...154,046,334
Ensembl chr 3:154,043,873...154,046,330
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Nras
NRAS proto-oncogene, GTPase
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: NEUROBLASTOMA, SUSCEPTIBILITY TO
CTD ClinVar
PMID:2674680 PMID:8120410 PMID:10821536 PMID:12460918 PMID:15899789 PMID:16273091 PMID:16291983 PMID:17699718 PMID:18390968 PMID:18633438 PMID:18668139 PMID:18948947 PMID:19657110 PMID:20130576 PMID:20179705 PMID:20619739 PMID:20736745 PMID:21107323 PMID:21305640 PMID:21729679 PMID:21829508 PMID:22718121 PMID:22761467 PMID:23334666 PMID:23392294 PMID:23400451 PMID:23414587 PMID:23515407 PMID:23538902 PMID:23569304 PMID:23614898 PMID:24148783 PMID:24671188 PMID:25348872 PMID:25695684 PMID:26619011 PMID:26821351 PMID:27050078 PMID:28492532 PMID:28780248
NCBI chr 2:205,553,119...205,563,716
Ensembl chr 2:205,553,163...205,560,791
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Nsd1
nuclear receptor binding SET domain protein 1
severity
ISO
DNA:hypermethylation:promoter:CpG islands (human)
RGD
PMID:20018718
RGD:9590155
NCBI chr17:9,840,859...9,955,391
Ensembl chr17:9,844,133...9,952,898
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Ntrk1
neurotrophic receptor tyrosine kinase 1
disease_progression
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16989911 , PMID:8433391
RGD:5684545
NCBI chr 2:187,143,568...187,160,373
Ensembl chr 2:187,143,568...187,160,373
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Ntrk2
neurotrophic receptor tyrosine kinase 2
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Neuroblastoma
CTD ClinVar
PMID:16051641 PMID:26822237
NCBI chr17:5,934,651...6,245,778
Ensembl chr17:5,933,729...6,244,676
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Pak4
p21 (RAC1) activated kinase 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29048629
NCBI chr 1:85,162,462...85,201,746
Ensembl chr 1:85,162,452...85,201,757
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Pecam1
platelet and endothelial cell adhesion molecule 1
ISO
human tumor in mouse model
RGD
PMID:22174364
RGD:6767296
NCBI chr10:94,850,971...94,913,202
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Phf6
PHD finger protein 6
ISO
ClinVar Annotator: match by term: Neuroblastoma
ClinVar
PMID:26822237
NCBI chr X:158,698,353...158,739,855
Ensembl chr X:158,698,356...158,739,838 Ensembl chr X:158,698,356...158,739,838
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Phox2b
paired-like homeobox 2b
ISO
ClinVar Annotator: match by term: Neuroblastoma CTD Direct Evidence: marker/mechanism
ClinVar CTD
PMID:25174395 PMID:30127528
NCBI chr14:42,711,169...42,718,707
Ensembl chr14:42,714,315...42,717,010
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Pik3ca
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
ISO
ClinVar Annotator: match by term: Neuroblastoma
ClinVar
PMID:26619011
NCBI chr 2:118,831,350...118,861,456
Ensembl chr 2:118,831,350...118,861,454
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Pink1
PTEN induced kinase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23334666
NCBI chr 5:156,677,146...156,689,258
Ensembl chr 5:156,677,146...156,689,415
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Prame
PRAME nuclear receptor transcriptional regulator
severity
ISO
mRNA:increased expression:neural tissue (human)
RGD
PMID:15240516
RGD:11535044
NCBI chr X:106,082,984...106,091,256
Ensembl chr X:106,083,203...106,085,878
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Psmd14
proteasome 26S subunit, non-ATPase 14
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30871063
NCBI chr 3:47,578,449...47,673,330
Ensembl chr 3:47,578,384...47,673,338
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Ptch1
patched 1
ISO
ClinVar Annotator: match by term: Neuroblastoma
ClinVar
PMID:25741868 PMID:28492532
NCBI chr17:1,032,242...1,085,885
Ensembl chr17:1,029,048...1,093,873
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Ptpn11
protein tyrosine phosphatase, non-receptor type 11
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Neuroblastoma ClinVar Annotator: match by term: NEUROBLASTOMA, SUSCEPTIBILITY TO
CTD ClinVar
PMID:12717436 PMID:14644997 PMID:14982869 PMID:15385933 PMID:15710330 PMID:15842656 PMID:15928039 PMID:16358218 PMID:16518851 PMID:17177198 PMID:17972951 PMID:18470943 PMID:19047918 PMID:19179468 PMID:21930766 PMID:23334666 PMID:23756559 PMID:23825065 PMID:24033266 PMID:25097206 PMID:25395418 PMID:26619011 PMID:27069254 PMID:27783593 PMID:28098151 PMID:30868567
NCBI chr12:40,895,515...40,955,999
Ensembl chr12:40,895,515...40,955,999
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Ptpn14
protein tyrosine phosphatase, non-receptor type 14
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26121086
NCBI chr13:108,689,916...108,841,593
Ensembl chr13:108,696,336...108,841,511
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Rassf1
Ras association domain family member 1
ISO
RGD
PMID:17325427 , PMID:12222680
RGD:2291979 , RGD:2291977
NCBI chr 8:116,307,149...116,318,289
Ensembl chr 8:116,307,141...116,318,289
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Rassf5
Ras association domain family member 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18452173
NCBI chr13:47,956,754...48,022,333
Ensembl chr13:47,956,790...48,022,333
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Rbm15
RNA binding motif protein 15
ISO
ClinVar Annotator: match by term: Neuroblastoma
ClinVar
PMID:26822237
NCBI chr 2:210,079,678...210,090,200
Ensembl chr 2:210,081,770...210,088,949
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Scnn1a
sodium channel epithelial 1 subunit alpha
disease_progression
ISO
Low levels of methylation correlate with improved survival
RGD
PMID:21314941
RGD:5509791
NCBI chr 4:157,834,339...157,860,472
Ensembl chr 4:157,836,912...157,860,049
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Sema3b
semaphorin 3B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17452250
NCBI chr 8:116,353,791...116,362,655
Ensembl chr 8:116,354,073...116,361,343
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Smarca4
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4
ISO
ClinVar Annotator: match by term: Neuroblastoma
ClinVar
PMID:25741868
NCBI chr 8:22,648,323...22,739,468
Ensembl chr 8:22,648,323...22,739,468
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Snrpe
small nuclear ribonucleoprotein polypeptide E
severity
ISO
mRNA:decreased expression:neuroblastoma (human)
RGD
PMID:17075126
RGD:10755762
NCBI chr13:50,252,707...50,258,951
Ensembl chr 8:129,371,556...129,371,973
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Tbx2
T-box transcription factor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30127528
NCBI chr10:73,278,932...73,290,764
Ensembl chr10:73,279,119...73,289,921
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Tert
telomerase reverse transcriptase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26523776
NCBI chr 1:32,250,876...32,275,330
Ensembl chr 1:32,251,714...32,272,476
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Th
tyrosine hydroxylase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25174395
NCBI chr 1:216,073,034...216,080,287
Ensembl chr 1:216,073,031...216,080,287
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Tnfsf10
TNF superfamily member 10
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:16820965
NCBI chr 2:113,008,008...113,026,899
Ensembl chr 2:113,007,549...113,026,899
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Tp53
tumor protein p53
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: NEUROBLASTOMA, SUSCEPTIBILITY TO, 1 ClinVar Annotator: match by term: Neuroblastoma ClinVar Annotator: match by term: Neuroblastoma Susceptibility
CTD ClinVar
PMID:7651740 PMID:9546439 PMID:10064694 PMID:10864200 PMID:11896595 PMID:12826609 PMID:15814359 PMID:15925506 PMID:17390010 PMID:17572079 PMID:19850740 PMID:20407015 PMID:21305319 PMID:21343334 PMID:22844452 PMID:23894400 PMID:24766216 PMID:25293557 PMID:26619011 PMID:27493922 PMID:28492532
NCBI chr10:56,186,299...56,198,449
Ensembl chr10:56,187,020...56,198,449
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Tp73
tumor protein p73
no_association
ISO
RGD
PMID:9288759
RGD:1599583
NCBI chr 5:171,355,876...171,415,354
Ensembl chr 5:171,355,876...171,415,354
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Tsc1
TSC complex subunit 1
ISO
ClinVar Annotator: match by term: Neuroblastoma
ClinVar
PMID:25741868
NCBI chr 3:7,219,955...7,269,063
Ensembl chr 3:7,237,192...7,265,145
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Tsc2
TSC complex subunit 2
ISO
ClinVar Annotator: match by term: Neuroblastoma
ClinVar
PMID:26822237
NCBI chr10:13,962,006...13,996,684
Ensembl chr10:13,961,947...13,996,584
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Yap1
Yes1 associated transcriptional regulator
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26121086
NCBI chr 8:6,133,014...6,204,240
Ensembl chr 8:6,135,493...6,203,579
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Zfp276
zinc finger protein (C2H2 type) 276
ISO
ClinVar Annotator: match by term: Neuroblastoma
ClinVar
PMID:15059067 PMID:24584348 PMID:27041517
NCBI chr19:56,054,250...56,067,767
Ensembl chr19:56,054,212...56,067,581
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Phox2b
paired-like homeobox 2b
susceptibility
ISO
ClinVar Annotator: match by term: Neuroblastoma 2
ClinVar OMIM
PMID:15024693 PMID:15121777 PMID:15338462 PMID:16691592 PMID:16763219 PMID:16830328 PMID:17637745 PMID:17765533 PMID:18079495 PMID:19011468 PMID:24033266 PMID:25741868 PMID:28492532
NCBI chr14:42,711,169...42,718,707
Ensembl chr14:42,714,315...42,717,010
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Alk
ALK receptor tyrosine kinase
susceptibility
ISO
ClinVar Annotator: match by term: Neuroblastoma 3
ClinVar OMIM
PMID:2124297 PMID:15517393 PMID:16880530 PMID:18724359 PMID:18923523 PMID:18923524 PMID:18923525 PMID:18990089 PMID:21030459 PMID:21242967 PMID:21575866 PMID:21637378 PMID:21804922 PMID:21838707 PMID:21948233 PMID:22071890 PMID:22072639 PMID:22086496 PMID:22277784 PMID:23104988 PMID:23555315 PMID:24033266 PMID:24129244 PMID:24326041 PMID:24327273 PMID:24728327 PMID:25517749 PMID:25589003 PMID:25714698 PMID:25741868 PMID:25874976 PMID:25979929 PMID:26002608 PMID:26503946 PMID:26554404 PMID:26580448 PMID:26619011 PMID:26696773 PMID:27179218 PMID:28185914 PMID:28202063 PMID:28492532 PMID:28756644 PMID:28975465 PMID:30982079
NCBI chr 6:22,696,415...23,203,791
Ensembl chr 6:22,696,397...23,203,775
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Hif1a
hypoxia inducible factor 1 subunit alpha
severity
ISO
protein:increased expression:neuroblastoma (human)
RGD
PMID:18431543
RGD:8694471
NCBI chr 6:96,810,868...96,856,303
Ensembl chr 6:96,810,907...96,856,052
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Fcgr1a
Fc fragment of IgG receptor Ia
ISO
ClinVar Annotator: match by term: Peritoneal Gliomatosis
ClinVar
NCBI chr 2:198,430,536...198,439,453
Ensembl chr 2:198,430,530...198,458,041
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RT1-Db1
RT1 class II, locus Db1
ISO
ClinVar Annotator: match by term: Peritoneal Gliomatosis
ClinVar
NCBI chr20:4,087,621...4,097,190
Ensembl chr20:4,087,618...4,097,190
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Alk
ALK receptor tyrosine kinase
ISO
ClinVar Annotator: match by term: Pilocytic astrocytoma
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 6:22,696,415...23,203,791
Ensembl chr 6:22,696,397...23,203,775
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Apc
APC regulator of WNT signaling pathway
ISO
ClinVar Annotator: match by term: Pilocytic astrocytoma
ClinVar
PMID:1651563 PMID:2478327 PMID:14633595 PMID:18199528 PMID:20223039 PMID:20685668 PMID:21859464 PMID:22000517 PMID:22703879 PMID:24033266 PMID:24728327 PMID:24790607 PMID:25142776 PMID:25637381 PMID:25741868 PMID:26332594 PMID:26467025 PMID:26917275 PMID:27435373 PMID:27930734 PMID:28492532
NCBI chr18:27,011,710...27,106,323
Ensembl chr18:27,047,382...27,105,531
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Flcn
folliculin
ISO
ClinVar Annotator: match by term: Pilocytic astrocytoma
ClinVar
PMID:25741868
NCBI chr10:46,153,185...46,172,331
Ensembl chr10:46,153,188...46,172,309
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Kras
KRAS proto-oncogene, GTPase
ISO
ClinVar Annotator: match by term: Pilocytic astrocytoma
ClinVar
PMID:12460918 PMID:15696205 PMID:16247081 PMID:16361624 PMID:16618717 PMID:17384584 PMID:18316791 PMID:18794081 PMID:19114683 PMID:19255327 PMID:19679400 PMID:19773371 PMID:20921462 PMID:20921465 PMID:21228335 PMID:23406027 PMID:24033266 PMID:25157968
NCBI chr 4:179,482,562...179,515,483
Ensembl chr 4:179,486,105...179,515,558
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Nf1
neurofibromin 1
ISO
ClinVar Annotator: match by term: Pilocytic astrocytoma
ClinVar
PMID:25741868
NCBI chr10:66,732,460...66,928,706
Ensembl chr10:66,690,133...66,928,903
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Palb2
partner and localizer of BRCA2
ISO
ClinVar Annotator: match by term: Pilocytic astrocytoma
ClinVar
PMID:25741868 PMID:26283626 PMID:28492532 PMID:28664506
NCBI chr 1:192,064,586...192,088,547
Ensembl chr 1:192,064,589...192,088,520
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Ret
ret proto-oncogene
ISO
ClinVar Annotator: match by term: Pilocytic astrocytoma
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 4:150,202,170...150,249,196
Ensembl chr 4:150,202,058...150,244,372
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Runx1
RUNX family transcription factor 1
ISO
ClinVar Annotator: match by term: Pilocytic astrocytoma
ClinVar
PMID:25741868
NCBI chr11:32,765,147...33,003,061
Ensembl chr11:32,769,165...33,003,021
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Sdha
succinate dehydrogenase complex flavoprotein subunit A
ISO
ClinVar Annotator: match by term: Pilocytic astrocytoma, somatic
ClinVar
PMID:20484225 PMID:21505157 PMID:21752896 PMID:22955521 PMID:23174939 PMID:23252569 PMID:23612575 PMID:23666964 PMID:23730622 PMID:24781757 PMID:25494863 PMID:25741868 PMID:26113600 PMID:26173966 PMID:26259135 PMID:26269449 PMID:26490314 PMID:27895137 PMID:28384794 PMID:28492532 PMID:28500238 PMID:28819017 PMID:29872718 PMID:30068732
NCBI chr 1:31,545,631...31,570,601
Ensembl chr 1:31,545,631...31,570,601
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Dicer1
dicer 1 ribonuclease III
ISO
ClinVar Annotator: match by term: Pineoblastoma
ClinVar
PMID:19556464 PMID:24909177 PMID:25022261 PMID:25118636 PMID:25741868 PMID:26925222 PMID:27459524 PMID:28492532 PMID:28960912 PMID:30097050
NCBI chr 6:128,388,084...128,453,234
Ensembl chr 6:128,388,053...128,434,183
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Ewsr1
EWS RNA-binding protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12162413
NCBI chr14:85,322,105...85,350,826
Ensembl chr14:85,322,296...85,350,948
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Hes1
hes family bHLH transcription factor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21127729
NCBI chr11:74,312,837...74,315,249
Ensembl chr11:74,312,806...74,315,248
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Hey1
hes-related family bHLH transcription factor with YRPW motif 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21127729
NCBI chr 2:95,320,147...95,322,701
Ensembl chr 2:95,320,283...95,322,696
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Notch2
notch receptor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21127729
NCBI chr 2:200,187,184...200,320,403
Ensembl chr 2:200,187,179...200,320,215
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Pms2
PMS1 homolog 2, mismatch repair system component
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15077197
NCBI chr12:12,714,394...12,738,654
Ensembl chr12:12,714,394...12,738,641
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Pon1
paraoxonase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16002382
NCBI chr 4:30,249,749...30,276,297
Ensembl chr 4:30,249,742...30,276,372
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Ptch1
patched 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9581815
NCBI chr17:1,032,242...1,085,885
Ensembl chr17:1,029,048...1,093,873
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Smo
smoothened, frizzled class receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9581815
NCBI chr 4:57,019,941...57,041,779
Ensembl chr 4:57,019,941...57,042,770
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Tsc1
TSC complex subunit 1
ISO
ClinVar Annotator: match by term: Primitive neuroectodermal tumor
ClinVar
PMID:16554133 PMID:21309039 PMID:22703879 PMID:25077650 PMID:25741868 PMID:27153395 PMID:28492532
NCBI chr 3:7,219,955...7,269,063
Ensembl chr 3:7,237,192...7,265,145
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Kit
KIT proto-oncogene receptor tyrosine kinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15618851
NCBI chr14:35,072,131...35,149,638
Ensembl chr14:35,072,108...35,149,610
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Alk
ALK receptor tyrosine kinase
ISO
ClinVar Annotator: match by term: Retinoblastoma
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 6:22,696,415...23,203,791
Ensembl chr 6:22,696,397...23,203,775
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Apc
APC regulator of WNT signaling pathway
ISO
ClinVar Annotator: match by term: Retinoblastoma
ClinVar
PMID:25186627 PMID:25741868 PMID:28492532
NCBI chr18:27,011,710...27,106,323
Ensembl chr18:27,047,382...27,105,531
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Brca2
BRCA2, DNA repair associated
ISO
ClinVar Annotator: match by term: Retinoblastoma
ClinVar
PMID:17899372 PMID:19043619 PMID:20507642 PMID:22632462 PMID:25741868 PMID:25782689 PMID:26467025 PMID:28492532 PMID:29394989 PMID:29884841 PMID:30254663
NCBI chr12:503,660...544,754
Ensembl chr12:504,007...544,748
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Cadm2
cell adhesion molecule 2
ISO
mRNA, protein:decreased expression:retina
RGD
PMID:30320366
RGD:15092072
NCBI chr11:4,175,078...4,397,335
Ensembl chr11:4,174,881...4,397,361
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Cdkn2a
cyclin-dependent kinase inhibitor 2A
ISO
ClinVar Annotator: match by term: Retinoblastoma
ClinVar
PMID:25741868
NCBI chr 5:107,823,323...107,832,405
Ensembl chr 5:107,823,330...107,841,175
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Fancm
FA complementation group M
ISO
ClinVar Annotator: match by term: Retinoblastoma
ClinVar
PMID:25741868
NCBI chr 6:86,823,195...86,877,067
Ensembl chr 6:86,823,684...86,876,633
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Fas
Fas cell surface death receptor
severity
ISO
protein:decreased expression:tumor (human)
RGD
PMID:14533029
RGD:8662811
NCBI chr 1:252,589,785...252,624,790
Ensembl chr 1:252,589,785...252,624,790
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Itm2b
integral membrane protein 2B
ISO
ClinVar Annotator: match by term: Retinoblastoma
ClinVar
PMID:8099255 PMID:12541220 PMID:28492532 PMID:28575107 PMID:29568217
NCBI chr15:55,254,703...55,277,713
Ensembl chr15:55,254,706...55,277,713
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Kdm1b
lysine demethylase 1B
ISO
mRNA:increased expression:retina (human)
RGD
PMID:16180235
RGD:9588276
NCBI chr17:17,987,972...18,028,808
Ensembl chr17:17,987,972...18,028,808
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Lpar6
lysophosphatidic acid receptor 6
ISO
ClinVar Annotator: match by term: Retinoblastoma
ClinVar
PMID:8099255 PMID:12541220 PMID:21505449 PMID:22909775 PMID:23301675 PMID:28492532 PMID:28575107 PMID:29568217
NCBI chr15:55,126,953...55,128,762
Ensembl chr15:55,126,953...55,128,761
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Max
MYC associated factor X
ISO
ClinVar Annotator: match by term: Retinoblastoma
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 6:99,984,260...100,011,460
Ensembl chr 6:99,984,260...100,011,388
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Med4
mediator complex subunit 4
ISO
ClinVar Annotator: match by term: Retinoblastoma
ClinVar
PMID:8099255 PMID:12541220 PMID:28492532 PMID:28575107 PMID:29568217
NCBI chr15:55,406,543...55,416,816
Ensembl chr15:55,406,543...55,416,815
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Mgmt
O-6-methylguanine-DNA methyltransferase
disease_progression
ISO
DNA:hypermethylation:promoter (human)
RGD
PMID:15799820
RGD:2317684
NCBI chr 1:209,237,255...209,464,189
Ensembl chr 1:209,237,233...209,464,190
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Mir182
microRNA 182
treatment
IEP IMP
miRNA:increased expression:retina
RGD
PMID:30320366 , PMID:30320366
RGD:15092072 , RGD:15092072
NCBI chr 4:57,459,773...57,459,834
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Mtr
5-methyltetrahydrofolate-homocysteine methyltransferase
susceptibility
ISO
DNA:SNP::2756A>G(human)
RGD
PMID:20310006
RGD:8694083
NCBI chr17:66,210,444...66,295,014
Ensembl chr17:66,210,461...66,295,014
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Mutyh
mutY DNA glycosylase
ISO
ClinVar Annotator: match by term: Retinoblastoma
ClinVar
PMID:25741868 PMID:26947005 PMID:28135145 PMID:28492532
NCBI chr 5:135,663,328...135,675,348
Ensembl chr 5:135,663,371...135,675,344
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Nf1
neurofibromin 1
ISO
ClinVar Annotator: match by term: Retinoblastoma
ClinVar
PMID:25741868 PMID:28492532
NCBI chr10:66,732,460...66,928,706
Ensembl chr10:66,690,133...66,928,903
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Nudt15
nudix hydrolase 15
ISO
ClinVar Annotator: match by term: Retinoblastoma
ClinVar
PMID:8099255 PMID:12541220 PMID:28492532 PMID:28575107 PMID:29568217
NCBI chr15:55,417,774...55,456,698
Ensembl chr15:55,419,502...55,456,698
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Palb2
partner and localizer of BRCA2
ISO
ClinVar Annotator: match by term: Retinoblastoma
ClinVar
PMID:23555315 PMID:25741868 PMID:26467025 PMID:28492532
NCBI chr 1:192,064,586...192,088,547
Ensembl chr 1:192,064,589...192,088,520
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Ptch1
patched 1
ISO
ClinVar Annotator: match by term: Retinoblastoma
ClinVar
PMID:24728327 PMID:25741868 PMID:28492532
NCBI chr17:1,032,242...1,085,885
Ensembl chr17:1,029,048...1,093,873
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Rb1
RB transcriptional corepressor 1
ISO
ClinVar Annotator: match by term: Retinoblastoma ClinVar Annotator: match by OMIM:180200 DNA:mutations:exon, intron:multiple
OMIM ClinVar
PMID:1298292 PMID:1352883 PMID:1881452 PMID:2181449 PMID:2594029 PMID:2601691 PMID:2673542 PMID:2748600 PMID:7704558 PMID:7795591 PMID:7881418 PMID:7981694 PMID:8099255 PMID:8346255 PMID:8364580 PMID:8605116 PMID:8651278 PMID:8776589 PMID:9311732 PMID:9341870 PMID:9400934 PMID:9632788 PMID:9671401 PMID:9973307 PMID:10023315 PMID:10486322 PMID:10617920 PMID:10671068 PMID:10966849 PMID:10991691 PMID:11189328 PMID:11317357 PMID:11317369 PMID:11668642 PMID:12016586 PMID:12173465 PMID:12402348 PMID:12541220 PMID:12955724 PMID:14722923 PMID:15166261 PMID:15605413 PMID:15643604 PMID:15776430 PMID:15884040 PMID:16127685 PMID:16269091 PMID:16343894 PMID:16449662 PMID:16463005 PMID:16595082 PMID:16988938 PMID:17096365 PMID:17299438 PMID:17960112 PMID:17996702 PMID:18000883 PMID:18181215 PMID:18449911 PMID:18677112 PMID:18682685 PMID:19280657 PMID:19339519 PMID:19390654 PMID:19491728 PMID:20041224 PMID:20059380 PMID:20090211 PMID:20447117 PMID:20594292 PMID:20596833 PMID:21505449 PMID:21520333 PMID:21654082 PMID:21763628 PMID:22084214 PMID:22180099 PMID:22205104 PMID:22219649 PMID:22328814 PMID:22703879 PMID:22909775 PMID:22963398 PMID:23301675 PMID:23532519 PMID:23595191 PMID:23981928 PMID:24033266 PMID:24078560 PMID:24082139 PMID:24225018 PMID:24336570 PMID:24347427 PMID:24448499 PMID:24688104 PMID:24728327 PMID:24791139 PMID:24810223 PMID:25157968 PMID:25424699 PMID:25525159 PMID:25602518 PMID:25712084 PMID:25741868 PMID:25754945 PMID:25758528 PMID:25928201 PMID:26084579 PMID:26332594 PMID:26396485 PMID:26530098 PMID:26539030 PMID:26580448 PMID:26764160 PMID:26787237 PMID:26925970 PMID:26934580 PMID:27021801 PMID:27153395 PMID:27155049 PMID:27283993 PMID:27582626 PMID:27879208 PMID:27983729 PMID:28193182 PMID:28301456 PMID:28401291 PMID:28492532 PMID:28575107 PMID:28580595 PMID:28724667 PMID:28803391 PMID:28875981 PMID:29261756 PMID:29568217 PMID:30031154 PMID:31645765 , PMID:12402348
RGD:8547986
NCBI chr15:55,081,582...55,209,060
Ensembl chr15:55,083,140...55,209,342
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Serpinf1
serpin family F member 1
treatment
ISO
human protein and tumor xenograft in a mouse model
RGD
PMID:19832843
RGD:8554870
NCBI chr10:62,241,750...62,254,145
Ensembl chr10:62,241,756...62,254,287
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Sncg
synuclein, gamma
ISO
RGD
PMID:18728752
RGD:6218971
NCBI chr16:10,722,110...10,726,648
Ensembl chr16:10,722,106...10,726,707
G
Stk11
serine/threonine kinase 11
ISO
ClinVar Annotator: match by term: Retinoblastoma
ClinVar
PMID:25741868 PMID:26467025 PMID:28135145 PMID:28492532 PMID:30287823
NCBI chr 7:12,440,751...12,457,513
Ensembl chr 7:12,440,751...12,457,513
G
Tsc2
TSC complex subunit 2
ISO
ClinVar Annotator: match by term: Retinoblastoma
ClinVar
PMID:22703879 PMID:25741868 PMID:28492532
NCBI chr10:13,962,006...13,996,684
Ensembl chr10:13,961,947...13,996,584
G
Rb1
RB transcriptional corepressor 1
ISO
ClinVar Annotator: match by term: Retinoblastoma, trilateral
ClinVar
PMID:7704558 PMID:8346255 PMID:8605116 PMID:9400934 PMID:16463005 PMID:22963398 PMID:24688104 PMID:25157968 PMID:25602518 PMID:25741868 PMID:28492532
NCBI chr15:55,081,582...55,209,060
Ensembl chr15:55,083,140...55,209,342
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all