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: astroblastoma
Accession: DOID:7305
browse the term
Definition: A malignant astrocytoma that is characterized by tumor cells with characteristics suggestive of an astrocytic origin (positive for GFAP), arranged perivascularly. (DO)
Synonyms: exact_synonym: Ependymoastrocytoma; Neuroepithelial Neoplasm; astroblastomas; ependymoastrocytomas; neuroepithelial neoplasms; neuroepithelial tumor; neuroepithelial tumors; polar spongioblastoma
primary_id: MESH:D018302
xref: GARD:10635 ; NCI:C4324
For additional species annotation, visit the
Alliance of Genome Resources .
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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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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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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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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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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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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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
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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
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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
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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 PMID:27993330
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 Annotator: match by term: Medulloblastoma, somatic
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 PMID:27993330
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 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 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:28166811 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:29478780 PMID:29489754 PMID:29752822 PMID:29979965 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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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:28166811 PMID:28492532 PMID:30126838
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:11704759 PMID:12634870 PMID:12717436 PMID:14644997 PMID:14974085 PMID:14982869 PMID:15385933 PMID:15710330 PMID:15842656 PMID:15928039 PMID:16358218 PMID:16518851 PMID:16830086 PMID:17177198 PMID:17972951 PMID:18470943 PMID:18678287 PMID:19047918 PMID:19179468 PMID:19509418 PMID:21930766 PMID:23334666 PMID:23756559 PMID:23825065 PMID:24033266 PMID:25097206 PMID:25395418 PMID:26619011 PMID:27069254 PMID:27783593 PMID:28098151 PMID:28492532 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 ClinVar Annotator: match by term: NEUROBLASTOMA, SUSCEPTIBILITY TO, 1 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:12640453 PMID:15024693 PMID:15121777 PMID:15338462 PMID:15657873 PMID:16691592 PMID:16763219 PMID:16830328 PMID:17637745 PMID:17765533 PMID:18079495 PMID:19011468 PMID:19058226 PMID:24033266 PMID:25741868 PMID:28371199 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:9536098 PMID:15517393 PMID:16880530 PMID:17576681 PMID:18724359 PMID:18923523 PMID:18923524 PMID:18923525 PMID:18990089 PMID:21030459 PMID:21242967 PMID:21575866 PMID:21637378 PMID:21804922 PMID:21838707 PMID:21948233 PMID: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:25640679 PMID:25714698 PMID:25741868 PMID:25874976 PMID:25979929 PMID:26002608 PMID:26503946 PMID:26554404 PMID:26580448 PMID:26619011 PMID:26696773 PMID:27179218 PMID:27285993 PMID:28166811 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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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 Ensembl chr 4:85,322,296...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:28166811 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 PMID:28492532
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:9536098 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:12502741 PMID:12541220 PMID:12955724 PMID:14722923 PMID:15166261 PMID:15605413 PMID:15643604 PMID:15776430 PMID:15884040 PMID:16127685 PMID:16199547 PMID:16269091 PMID:16343894 PMID:16449662 PMID:16463005 PMID:16595082 PMID:16988938 PMID:17096365 PMID:17299438 PMID:17576681 PMID:17960112 PMID:17996702 PMID:18000883 PMID:18181215 PMID:18449911 PMID: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
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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
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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
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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
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