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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:spinal disease
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Accession:DOID:0060564 term browser browse the term
Definition:A bone disease that is located_in the spine. (DO)
Synonyms:exact_synonym: spinal diseases
 primary_id: MESH:D013122
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
spinal disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FLNB filamin B ISO spondylocarpotarsal syndrome,OMIM:272460;DNA:frameshift:6408delC,DNA:point mutation:exons:R818X,R1607X RGD PMID:14991055 RGD:1601168 NCBI chr13:39,789,259...39,938,751
Ensembl chr13:39,789,703...39,938,750
JBrowse link
G PENK proenkephalin ISO mRNA:increased expression:hypothalamus: RGD PMID:11501038 RGD:10003114 NCBI chr 4:75,525,497...75,530,403
Ensembl chr 4:75,525,555...75,561,444
JBrowse link
achondrogenesis type IA term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TRIP11 thyroid hormone receptor interactor 11 ISO OMIM NCBI chr 7:113,524,406...113,600,411
Ensembl chr 7:113,524,430...113,600,084
JBrowse link
achondrogenesis type II term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL2A1 collagen type II alpha 1 chain ISO OMIM NCBI chr 5:78,350,131...78,380,893
Ensembl chr 5:78,350,220...78,380,924
JBrowse link
acromesomelic dysplasia, Maroteaux type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NPR2 natriuretic peptide receptor 2 ISO OMIM NCBI chr 1:236,508,994...236,529,172
Ensembl chr 1:236,508,998...236,529,154
JBrowse link
G SPAG8 sperm associated antigen 8 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia, Maroteaux type
ClinVar Annotator: match by term: Acromesomelic dysplasia Maroteaux type
ClinVar PMID:15146390 PMID:22691581 PMID:25741868 PMID:28492532 NCBI chr 1:236,526,659...236,532,181
Ensembl chr 1:236,529,262...236,534,630
JBrowse link
Adult Cerebral Astrocytoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MMP1 matrix metallopeptidase 1 susceptibility ISO DNA:insertion:promoter:g.-1607insG (human) RGD PMID:17502998 RGD:7207034 NCBI chr 9:33,411,738...33,420,205
Ensembl chr 9:33,411,065...33,454,000
JBrowse link
adult pineal parenchymal tumor term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MKI67 marker of proliferation Ki-67 severity ISO RGD PMID:21696422 RGD:6483520 NCBI chr14:137,266,622...137,296,312 JBrowse link
adult spinal cord ependymoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CHD6 chromodomain helicase DNA binding protein 6 ISO ClinVar Annotator: match by term: Adult Spinal Cord Ependymoma ClinVar NCBI chr17:44,048,056...44,265,472
Ensembl chr17:44,047,803...44,265,431
JBrowse link
anaplastic astrocytoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATRX ATRX chromatin remodeler ISO ClinVar Annotator: match by term: Astrocytoma, anaplastic ClinVar PMID:7697714 PMID:8968741 PMID:18414213 PMID:22995991 PMID:24082139 More... NCBI chr  X:61,584,028...61,872,341
Ensembl chr  X:61,584,848...61,872,288
JBrowse link
G KRAS KRAS proto-oncogene, GTPase ISO mRNA:decreased expression:brain RGD PMID:19179066 RGD:13702872 NCBI chr 5:48,508,774...48,546,260
Ensembl chr 5:48,508,790...48,549,346
JBrowse link
G TP53 tumor protein p53 ISO ClinVar Annotator: match by term: Astrocytoma, anaplastic ClinVar PMID:1349175 PMID:1565143 PMID:1565144 PMID:1591732 PMID:7565304 More... NCBI chr12:52,939,643...52,953,786
Ensembl chr12:52,939,643...52,953,819
JBrowse link
anaplastic ependymoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PALB2 partner and localizer of BRCA2 ISO ClinVar Annotator: match by term: Anaplastic ependymoma ClinVar PMID:21285249 PMID:25741868 PMID:26315354 PMID:26467025 PMID:26580448 More... NCBI chr 3:22,586,881...22,612,837
Ensembl chr 3:22,586,856...22,612,835
JBrowse link
G RUNX1 RUNX family transcription factor 1 ISO ClinVar Annotator: match by term: Anaplastic ependymoma ClinVar PMID:25741868 PMID:28492532 NCBI chr13:198,371,835...198,635,648
Ensembl chr13:198,371,835...198,638,189
JBrowse link
anaplastic oligodendroglioma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CIC capicua transcriptional repressor ISO ClinVar Annotator: match by term: Oligodendroglioma, anaplastic ClinVar NCBI chr 6:49,638,986...49,664,146
Ensembl chr 6:49,638,988...49,662,947
JBrowse link
anauxetic dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ARHGEF39 Rho guanine nucleotide exchange factor 39 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 1:236,383,684...236,387,705
Ensembl chr 1:236,377,802...236,387,667
JBrowse link
G C1H9orf131 chromosome 1 C9orf131 homolog ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 1:235,844,826...235,849,556
Ensembl chr 1:235,844,951...235,849,058
JBrowse link
G CA9 carbonic anhydrase 9 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 1:236,393,727...236,400,994
Ensembl chr 1:236,388,690...236,400,822
JBrowse link
G CCDC107 coiled-coil domain containing 107 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:8034306 PMID:9156319 PMID:10026268 PMID:11006544 PMID:11207361 More... NCBI chr 1:236,380,572...236,383,671
Ensembl chr 1:236,380,577...236,383,666
JBrowse link
G CCIN calicin ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 1:236,947,871...236,950,447
Ensembl chr 1:236,948,636...236,950,402
JBrowse link
G CCL19 C-C motif chemokine ligand 19 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr10:32,110,366...32,112,529
Ensembl chr10:32,110,064...32,112,739
JBrowse link
G CCL21 C-C motif chemokine ligand 21 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr10:32,093,783...32,094,482
Ensembl chr10:31,933,733...32,094,583
JBrowse link
G CCL27 C-C motif chemokine ligand 27 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr10:32,138,232...32,138,980
Ensembl chr10:32,138,232...32,138,974
JBrowse link
G CD72 CD72 molecule ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 1:236,345,894...236,355,755 JBrowse link
G CLTA clathrin light chain A ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 1:236,971,317...236,993,291
Ensembl chr 1:236,971,505...237,001,769
JBrowse link
G CREB3 cAMP responsive element binding protein 3 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 1:236,450,573...236,456,381
Ensembl chr 1:236,450,342...236,456,373
JBrowse link
G DNAJB5 DnaJ heat shock protein family (Hsp40) member B5 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 1:235,790,657...235,799,385
Ensembl chr 1:235,790,289...235,799,385
JBrowse link
G FAM166B family with sequence similarity 166 member B ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 1:236,322,893...236,325,008
Ensembl chr 1:236,322,897...236,324,981
JBrowse link
G FAM205C family with sequence similarity 205 member C ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 1:235,677,529...235,687,421 JBrowse link
G FAM214B family with sequence similarity 214 member B ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 1:235,895,613...235,907,142
Ensembl chr 1:235,895,621...235,907,110
JBrowse link
G FAM221B family with sequence similarity 221 member B ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 1:236,538,172...236,551,064
Ensembl chr 1:236,539,261...236,548,116
JBrowse link
G FANCG FA complementation group G ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 1:235,871,073...235,879,604
Ensembl chr 1:235,871,349...235,887,992
JBrowse link
G GALT galactose-1-phosphate uridylyltransferase ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr10:32,151,150...32,154,792
Ensembl chr10:32,151,173...32,154,743
JBrowse link
G GBA2 glucosylceramidase beta 2 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 1:236,456,238...236,467,887
Ensembl chr 1:236,455,240...236,468,210
JBrowse link
G GLIPR2 GLI pathogenesis related 2 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 1:236,919,821...236,943,828
Ensembl chr 1:236,919,877...236,943,823
JBrowse link
G GNE glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 1:236,998,754...237,065,819
Ensembl chr 1:236,998,757...237,065,767
JBrowse link
G HRCT1 histidine rich carboxyl terminus 1 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 1:236,670,418...236,671,435 JBrowse link
G IL11RA interleukin 11 receptor subunit alpha ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr10:32,138,984...32,149,315 JBrowse link
G LOC100157239 olfactory receptor 13J1-like ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 1:236,595,655...236,597,257 JBrowse link
G LOC100519461 olfactory receptor 2S2 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 1:236,709,468...236,712,100
Ensembl chr 1:236,709,673...236,710,632
JBrowse link
G LOC110255597 uncharacterized LOC110255597 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr10:32,134,464...32,135,892 JBrowse link
G MSMP microseminoprotein, prostate associated ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 1:236,472,652...236,473,664
Ensembl chr 1:236,472,548...236,473,819
JBrowse link
G NPR2 natriuretic peptide receptor 2 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 1:236,508,994...236,529,172
Ensembl chr 1:236,508,998...236,529,154
JBrowse link
G PHF24 PHD finger protein 24 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 1:235,757,499...235,783,053
Ensembl chr 1:235,757,797...235,783,051
JBrowse link
G PIGO phosphatidylinositol glycan anchor biosynthesis class O ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 1:235,880,088...235,888,338
Ensembl chr 1:235,871,072...235,888,000
JBrowse link
G RECK reversion inducing cysteine rich protein with kazal motifs ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 1:236,821,243...236,898,280
Ensembl chr 1:236,821,398...236,898,279
JBrowse link
G RGP1 RGP1 homolog, RAB6A GEF complex partner 1 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 1:236,468,115...236,478,347
Ensembl chr 1:236,468,320...236,477,705
JBrowse link
G RUSC2 RUN and SH3 domain containing 2 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 1:236,265,915...236,322,958
Ensembl chr 1:236,265,973...236,322,958
JBrowse link
G SIT1 signaling threshold regulating transmembrane adaptor 1 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 1:236,371,708...236,373,414
Ensembl chr 1:236,371,697...236,373,419
JBrowse link
G SPAG8 sperm associated antigen 8 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 1:236,526,659...236,532,181
Ensembl chr 1:236,529,262...236,534,630
JBrowse link
G STOML2 stomatin like 2 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 1:235,891,479...235,894,944
Ensembl chr 1:235,890,679...235,894,625
JBrowse link
G TESK1 testis associated actin remodelling kinase 1 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 1:236,341,160...236,345,964
Ensembl chr 1:236,341,179...236,345,962
JBrowse link
G TLN1 talin 1 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 1:236,416,041...236,450,978
Ensembl chr 1:236,416,044...236,450,922
JBrowse link
G TMEM8B transmembrane protein 8B ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 1:236,550,759...236,583,635
Ensembl chr 1:236,551,162...236,694,000
JBrowse link
G TPM2 tropomyosin 2 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 1:236,402,249...236,410,390
Ensembl chr 1:236,402,247...236,410,471
JBrowse link
G UNC13B unc-13 homolog B ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 1:235,918,751...236,158,098
Ensembl chr 1:235,918,736...236,158,244
JBrowse link
G VCP valosin containing protein ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 1:235,854,532...235,869,712
Ensembl chr 1:235,796,446...235,876,321
JBrowse link
anauxetic dysplasia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CCDC107 coiled-coil domain containing 107 ISO ClinVar Annotator: match by term: Anauxetic dysplasia 1 ClinVar PMID:8034306 PMID:9156319 PMID:10026268 PMID:11006544 PMID:11207361 More... NCBI chr 1:236,380,572...236,383,671
Ensembl chr 1:236,380,577...236,383,666
JBrowse link
G POP1 POP1 homolog, ribonuclease P/MRP subunit ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 4:38,608,536...38,656,204
Ensembl chr 4:38,607,706...38,656,151
JBrowse link
anauxetic dysplasia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G POP1 POP1 homolog, ribonuclease P/MRP subunit ISO OMIM NCBI chr 4:38,608,536...38,656,204
Ensembl chr 4:38,607,706...38,656,151
JBrowse link
anauxetic dysplasia 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NEPRO nucleolus and neural progenitor protein ISO OMIM NCBI chr13:146,902,010...146,914,755
Ensembl chr13:146,902,041...146,915,164
JBrowse link
ankylosing spondylitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACE angiotensin I converting enzyme (peptidyl-dipeptidase A) 1 susceptibility ISO DNA:deletion:intron:IVS16+1464-1751del (human) RGD PMID:22876137 RGD:7829800 NCBI chr12:15,394,487...15,414,609
Ensembl chr12:15,394,487...15,414,639
JBrowse link
G ADIPOQ adiponectin, C1Q and collagen domain containing ISO protein:increased expression:serum RGD PMID:21122270 RGD:5686891 NCBI chr13:124,633,906...124,646,237
Ensembl chr13:124,633,684...124,646,648
JBrowse link
G ANO6 anoctamin 6 severity ISO CTD Direct Evidence: marker/mechanism
DNA:SNP: :rs17095830(human)
CTD
RGD
PMID:22138694 PMID:23308121 RGD:9684849 NCBI chr 5:76,112,428...76,337,073
Ensembl chr 5:76,113,243...76,337,073
JBrowse link
G ANTXR2 ANTXR cell adhesion molecule 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20062062 PMID:21743469 NCBI chr 8:137,728,849...137,878,336
Ensembl chr 8:137,618,616...137,926,894
JBrowse link
G ASPN asporin susceptibility ISO DNA:repeats:exon: RGD PMID:20144272 RGD:9684964 NCBI chr 3:42,165,553...42,192,902
Ensembl chr 3:42,165,553...42,192,813
JBrowse link
G CARD9 caspase recruitment domain family member 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21743469
G CRP C-reactive protein, pentraxin-related disease_progression ISO protein:increased expression:serum: RGD PMID:6605119 PMID:22422197 RGD:6482308 RGD:9491788 NCBI chr 4:90,793,361...90,801,020
Ensembl chr 4:90,722,352...90,805,236
JBrowse link
G CYP1A1 cytochrome P450 family 1 subfamily A member 1 ISO DNA:polymorphism: :4887C>A (human) RGD PMID:12880680 RGD:1581252 NCBI chr 7:58,802,887...58,809,155
Ensembl chr 7:58,780,105...58,809,755
JBrowse link
G ERAP1 endoplasmic reticulum aminopeptidase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17952073 PMID:20062062 PMID:21743469 PMID:23291587 NCBI chr 2:103,378,428...103,415,066
Ensembl chr 2:103,378,429...103,408,759
JBrowse link
G FCGR3A Fc fragment of IgG receptor IIIa severity ISO protein:decreased expression:polymorphonuclear leucocyte RGD PMID:8453794 RGD:5508388 NCBI chr 4:88,948,357...88,956,513 JBrowse link
G IGFBP3 insulin like growth factor binding protein 3 ISO protein:decreased expression:serum RGD PMID:9851264 RGD:10402573 NCBI chr18:50,002,921...50,009,425 JBrowse link
G IL12B interleukin 12B ISO CTD Direct Evidence: marker/mechanism CTD PMID:21743469 NCBI chr16:64,143,268...64,158,929
Ensembl chr16:64,147,247...64,158,952
JBrowse link
G IL17A interleukin 17A treatment ISO RGD PMID:24035250 RGD:9068448 NCBI chr 7:46,013,584...46,017,161
Ensembl chr 7:46,013,584...46,017,153
JBrowse link
G IL1R2 interleukin 1 receptor type 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20062062 NCBI chr 3:52,367,434...52,406,393
Ensembl chr 3:52,367,437...52,406,334
JBrowse link
G IL23R interleukin 23 receptor no_association ISO DNA:SNPs,haplotype:multiple:
CTD Direct Evidence: marker/mechanism
DNA:SNP: :rs11209026(human)
RGD
CTD
PMID:17952073 PMID:19522770 PMID:19877036 PMID:20062062 RGD:8549549 RGD:8549630 NCBI chr 6:145,337,765...145,401,909
Ensembl chr 6:145,335,741...145,401,577
JBrowse link
G IL6 interleukin 6 ISO protein:increased expression:serum: RGD PMID:26339141 RGD:12792209 NCBI chr 9:91,506,421...91,510,830
Ensembl chr 9:91,506,340...91,511,263
JBrowse link
G IRAK1 interleukin 1 receptor associated kinase 1 susceptibility ISO DNA:SNP:enhancer: (rs3027898) (human) RGD PMID:20500689 RGD:7495783 NCBI chr  X:124,717,604...124,724,855
Ensembl chr  X:124,717,612...124,724,860
JBrowse link
G JAK2 Janus kinase 2 susceptibility ISO DNA:SNPs, haplotype:introns: (rs1536798, rs10119004, rs7857730) (human) RGD PMID:20627814 RGD:6483025 NCBI chr 1:216,849,744...217,002,310
Ensembl chr 1:216,848,686...217,002,148
JBrowse link
G KDM5A lysine demethylase 5A susceptibility ISO DNA:snps:intron:IVST>A, IVS-1467C>T, IVS+828T>C (rs7134353, rs2284336, rs11062357) (human) RGD PMID:24069348 RGD:9588532 NCBI chr 5:67,628,791...67,716,143
Ensembl chr 5:67,629,380...67,716,651
JBrowse link
G MTHFR methylenetetrahydrofolate reductase susceptibility ISO DNA:SNP:cds:677C>T (human) RGD PMID:25060515 RGD:42722610 NCBI chr 6:71,863,637...71,882,118
Ensembl chr 6:71,863,636...71,881,820
JBrowse link
G PGF placental growth factor ISO RGD PMID:21873332 RGD:6483576 NCBI chr 7:98,149,510...98,162,784 JBrowse link
G PSMB9 proteasome 20S subunit beta 9 ISO DNA: snp: rs17587 RGD PMID:22034108 RGD:6483349 NCBI chr 7:25,072,133...25,077,508
Ensembl chr 7:25,055,594...25,078,594
JBrowse link
G PTGER4 prostaglandin E receptor 4 ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:21743469 RGD:6483530 NCBI chr16:25,670,832...25,686,556
Ensembl chr16:25,670,862...25,686,552
JBrowse link
G RUNX3 RUNX family transcription factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21743469 NCBI chr 6:82,531,203...82,595,044
Ensembl chr 6:82,531,215...82,595,026
JBrowse link
G TAP1 transporter 1, ATP binding cassette subfamily B member ISO DNA:SNPs: : RGD PMID:19480848 RGD:6482250 NCBI chr 7:25,062,772...25,071,989
Ensembl chr 7:25,062,773...25,071,862
JBrowse link
G TAP2 transporter 2, ATP binding cassette subfamily B member ISO DNA:SNPs: : RGD PMID:19480848 RGD:6482250 NCBI chr 7:25,045,085...25,056,915 JBrowse link
G TBKBP1 TBK1 binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21743469 NCBI chr12:23,952,966...23,971,495
Ensembl chr12:23,954,605...23,971,494
JBrowse link
G THBD thrombomodulin ISO protein:increased expression:serum RGD PMID:21556780 RGD:5684983 NCBI chr17:30,219,870...30,223,499
Ensembl chr17:30,221,819...30,230,177
JBrowse link
G TLR4 toll like receptor 4 ISO mRNA:increased expression:blood cell: RGD PMID:20952467 RGD:7794744 NCBI chr 1:258,044,610...258,054,641
Ensembl chr 1:258,044,610...258,059,004
JBrowse link
G TLR5 toll like receptor 5 ISO mRNA:increased expression:blood cell: RGD PMID:20952467 RGD:7794744 NCBI chr10:19,387,666...19,410,024
Ensembl chr10:19,387,666...19,410,024
JBrowse link
G TNFRSF1B TNF receptor superfamily member 1B ISO RGD PMID:21317434 RGD:5131280 NCBI chr 6:72,195,420...72,231,146
Ensembl chr 6:72,195,435...72,231,149
JBrowse link
G VIP vasoactive intestinal peptide ISO protein:increased expression:plasma RGD PMID:20340024 RGD:5685387 NCBI chr 1:13,611,786...13,620,250
Ensembl chr 1:13,611,311...13,620,269
JBrowse link
astroblastoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MIR542 microRNA mir-542 disease_progression ISO RGD PMID:26286747 RGD:13782052 NCBI chr  X:110,382,597...110,382,676
Ensembl chr  X:110,382,597...110,382,676
JBrowse link
G PIK3R1 phosphoinositide-3-kinase regulatory subunit 1 severity ISO RGD PMID:26286747 PMID:26956052 RGD:11343921 RGD:13782052 NCBI chr16:46,434,757...46,523,626
Ensembl chr16:46,434,873...46,523,609
JBrowse link
atelosteogenesis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SLC26A2 solute carrier family 26 member 2 ISO ClinVar Annotator: match by term: Atelosteogenesis ClinVar NCBI chr 2:150,996,868...151,027,483
Ensembl chr 2:150,996,727...151,022,148
JBrowse link
Atelosteogenesis Type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FLNB filamin B ISO OMIM NCBI chr13:39,789,259...39,938,751
Ensembl chr13:39,789,703...39,938,750
JBrowse link
Atelosteogenesis Type 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SLC26A2 solute carrier family 26 member 2 ISO OMIM NCBI chr 2:150,996,868...151,027,483
Ensembl chr 2:150,996,727...151,022,148
JBrowse link
Atelosteogenesis Type 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FLNB filamin B ISO OMIM NCBI chr13:39,789,259...39,938,751
Ensembl chr13:39,789,703...39,938,750
JBrowse link
autosomal dominant osteopetrosis 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CLCN7 chloride voltage-gated channel 7 ISO OMIM NCBI chr 3:40,397,807...40,420,960
Ensembl chr 3:40,398,114...40,420,960
JBrowse link
brain glioblastoma multiforme term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MIR139 microRNA mir-139 ISO RNA:decreased expression:brain: RGD PMID:26449464 RGD:13838722 NCBI chr 9:7,175,314...7,175,381
Ensembl chr 9:7,175,308...7,175,385
JBrowse link
G NCAM1 neural cell adhesion molecule 1 disease_progression ISO RGD PMID:20219118 RGD:40924672 NCBI chr 9:40,628,602...40,960,605
Ensembl chr 9:40,628,750...40,960,608
JBrowse link
brain glioma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BAX BCL2 associated X, apoptosis regulator treatment ISO RGD PMID:27255231 PMID:29324390 RGD:13792502 RGD:13792598 NCBI chr 6:54,222,341...54,228,150
Ensembl chr 6:54,187,260...54,228,144
JBrowse link
G BST2 bone marrow stromal cell antigen 2 ISO mRNA,protein:increased expression:brain: RGD PMID:21565182 RGD:14398497 NCBI chr 2:60,305,306...60,308,295
Ensembl chr 2:60,305,252...60,309,936
JBrowse link
G CASP3 caspase 3 treatment ISO RGD PMID:29324390 RGD:13792598 NCBI chr15:45,744,320...45,753,252
Ensembl chr15:45,742,749...45,763,773
JBrowse link
G FADD Fas associated via death domain treatment ISO RGD PMID:27255231 RGD:13792502 NCBI chr 2:3,191,718...3,194,820
Ensembl chr 2:3,186,744...3,194,792
JBrowse link
G FAS Fas cell surface death receptor treatment ISO RGD PMID:29324390 RGD:13792598 NCBI chr14:100,927,305...100,954,781 JBrowse link
G FASLG Fas ligand treatment ISO RGD PMID:29324390 RGD:13792598 NCBI chr 9:115,068,314...115,075,147
Ensembl chr 9:115,068,090...115,076,475
JBrowse link
G GAPDH glyceraldehyde-3-phosphate dehydrogenase ISO RGD PMID:26032618 RGD:13792685 NCBI chr 5:64,129,678...64,135,194
Ensembl chr 5:64,129,680...64,133,991
JBrowse link
G KDSR 3-ketodihydrosphingosine reductase treatment ISO RGD PMID:27255231 PMID:29324390 RGD:13792502 RGD:13792598 NCBI chr 1:158,337,403...158,518,214
Ensembl chr 1:158,288,544...158,518,879
JBrowse link
brain stem glioma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PAX3 paired box 3 ISO mRNA,protein:increased expression:brain stem: RGD PMID:25330836 RGD:13702891 NCBI chr15:124,093,803...124,193,041
Ensembl chr15:124,095,224...124,193,011
JBrowse link
G PDGFRA platelet derived growth factor receptor alpha severity ISO RGD PMID:20197468 RGD:13702892 NCBI chr 8:40,966,568...41,021,440
Ensembl chr 8:40,967,493...41,021,442
JBrowse link
Camptocormia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MYH7 myosin heavy chain 7 ISO ClinVar Annotator: match by term: Bent Spine Syndrome ClinVar PMID:12707239 PMID:23861362 PMID:24033266 PMID:24793961 PMID:25467552 More... NCBI chr 7:75,650,841...75,672,908
Ensembl chr 7:75,650,445...75,709,232
JBrowse link
G POLG DNA polymerase gamma, catalytic subunit ISO ClinVar Annotator: match by term: Camptocormism ClinVar PMID:16621917 PMID:17452231 PMID:18546365 PMID:19189930 PMID:19578034 More... NCBI chr 7:54,889,150...54,907,167
Ensembl chr 7:54,889,153...54,906,856
JBrowse link
G RRM2B ribonucleotide reductase regulatory TP53 inducible subunit M2B ISO ClinVar Annotator: match by term: Bent Spine Syndrome ClinVar PMID:17486094 PMID:21378381 PMID:24741716 NCBI chr 4:34,823,869...34,859,777
Ensembl chr 4:34,823,757...34,859,780
JBrowse link
cerebellar medulloblastoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MSH6 mutS homolog 6 ISO ClinVar Annotator: match by term: Cerebellar medulloblastoma ClinVar NCBI chr 3:92,792,590...92,814,154
Ensembl chr 3:92,785,664...92,814,128
JBrowse link
Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HTRA1 HtrA serine peptidase 1 ISO OMIM NCBI chr14:132,043,044...132,103,590
Ensembl chr14:132,043,006...132,103,595
JBrowse link
childhood pilocytic astrocytoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MAPK1 mitogen-activated protein kinase 1 ISO protein:increased expression:brain: RGD PMID:21466243 RGD:13702864 NCBI chr14:50,083,079...50,165,528
Ensembl chr14:50,082,896...50,165,523
JBrowse link
chromosome 13q14 deletion syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACOD1 aconitate decarboxylase 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr11:49,077,152...49,088,218
Ensembl chr11:49,077,492...49,088,345
JBrowse link
G ALG11 ALG11 alpha-1,2-mannosyltransferase ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr11:15,851,352...15,876,452
Ensembl chr11:15,851,711...15,876,392
JBrowse link
G ARL11 ADP ribosylation factor like GTPase 11 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr11:18,097,723...18,100,425
Ensembl chr11:18,067,499...18,100,413
JBrowse link
G ATP7B ATPase copper transporting beta ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr11:15,892,549...15,942,070 JBrowse link
G BORA BORA aurora kinase A activator ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr11:45,017,651...45,045,127
Ensembl chr11:45,018,352...45,045,127
JBrowse link
G CAB39L calcium binding protein 39 like ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr11:18,297,669...18,400,398
Ensembl chr11:18,298,018...18,400,398
JBrowse link
G CCDC70 coiled-coil domain containing 70 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr11:15,976,814...15,978,050
Ensembl chr11:15,977,286...15,977,945
JBrowse link
G CDADC1 cytidine and dCMP deaminase domain containing 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr11:18,467,508...18,518,137
Ensembl chr11:18,458,299...18,518,146
JBrowse link
G CKAP2 cytoskeleton associated protein 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr11:15,751,717...15,767,068
Ensembl chr11:15,751,801...15,766,497
JBrowse link
G CLN5 CLN5 intracellular trafficking protein ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr11:49,105,822...49,128,425 JBrowse link
G CNMD chondromodulin ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr11:25,959,192...25,994,773
Ensembl chr11:25,961,915...25,994,651
JBrowse link
G COMMD6 COMM domain containing 6 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr11:47,795,110...47,818,543
Ensembl chr11:47,543,814...47,818,561
JBrowse link
G CYSLTR2 cysteinyl leukotriene receptor 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr11:18,988,665...19,011,015
Ensembl chr11:18,987,174...19,011,015
JBrowse link
G DACH1 dachshund family transcription factor 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr11:43,765,386...44,187,766
Ensembl chr11:43,764,270...44,188,352
JBrowse link
G DIAPH3 diaphanous related formin 3 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr11:32,492,735...32,994,854
Ensembl chr11:32,492,740...32,994,837
JBrowse link
G DIS3 DIS3 homolog, exosome endoribonuclease and 3'-5' exoribonuclease ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr11:45,046,040...45,075,973
Ensembl chr11:45,044,508...45,075,910
JBrowse link
G DLEU7 deleted in lymphocytic leukemia 7 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr11:16,970,802...16,990,609
Ensembl chr11:16,972,554...16,989,394
JBrowse link
G EBPL EBP like ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr11:18,039,978...18,150,729
Ensembl chr11:18,040,010...18,087,644
JBrowse link
G EDNRB endothelin receptor type B ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr11:50,073,300...50,102,879
Ensembl chr11:50,072,554...50,102,884
JBrowse link
G FAM124A family with sequence similarity 124 member A ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr11:16,572,298...16,658,094
Ensembl chr11:16,572,295...16,658,162
JBrowse link
G FBXL3 F-box and leucine rich repeat protein 3 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr11:49,131,663...49,151,380
Ensembl chr11:49,130,182...49,151,009
JBrowse link
G FNDC3A fibronectin type III domain containing 3A ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr11:18,564,280...18,757,742
Ensembl chr11:18,564,280...18,757,869
JBrowse link
G INTS6 integrator complex subunit 6 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr11:16,373,376...16,468,246
Ensembl chr11:16,372,805...16,468,252
JBrowse link
G ITM2B integral membrane protein 2B ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr11:19,349,088...19,377,931
Ensembl chr11:19,349,133...19,377,917
JBrowse link
G KCNRG potassium channel regulator ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr11:17,784,243...17,796,826
Ensembl chr11:17,784,996...17,793,804
JBrowse link
G KCTD12 potassium channel tetramerization domain containing 12 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr11:49,025,134...49,033,208
Ensembl chr11:48,943,477...49,031,093
JBrowse link
G KLF12 Kruppel like factor 12 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr11:45,981,096...46,655,472
Ensembl chr11:45,985,542...46,459,791
JBrowse link
G KLF5 Kruppel like factor 5 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr11:45,370,009...45,386,673
Ensembl chr11:45,369,797...45,388,314
JBrowse link
G KLHL1 kelch like family member 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr11:42,033,842...42,420,931
Ensembl chr11:42,033,842...42,419,770
JBrowse link
G KPNA3 karyopherin subunit alpha 3 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr11:17,948,210...18,033,818
Ensembl chr11:17,947,850...18,033,787
JBrowse link
G LMO7 LIM domain 7 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr11:47,911,076...48,133,449
Ensembl chr11:47,911,096...48,133,446
JBrowse link
G LOC100155738 protocadherin-8 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr11:26,127,398...26,133,481
Ensembl chr11:26,127,399...26,132,123
JBrowse link
G LOC106505279 uncharacterized LOC106505279 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr11:16,021,127...16,034,650
Ensembl chr11:16,008,665...16,034,395
JBrowse link
G LPAR6 lysophosphatidic acid receptor 6 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr11:19,216,305...19,220,913 JBrowse link
G MED4 mediator complex subunit 4 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr11:19,551,858...19,566,915
Ensembl chr11:19,551,863...19,566,926
JBrowse link
G MIR15A microRNA mir-15a ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr11:17,757,463...17,757,541
Ensembl chr11:17,757,460...17,757,554
JBrowse link
G MIR16-2 microRNA mir-16-2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr11:17,757,606...17,757,684
Ensembl chr11:17,757,601...17,757,687
JBrowse link
G MLNR motilin receptor ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr11:18,541,958...18,544,111
Ensembl chr11:18,542,028...18,544,025
JBrowse link
G MYCBP2 MYC binding protein 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr11:49,163,969...49,432,865
Ensembl chr11:49,164,141...49,432,858
JBrowse link
G MZT1 mitotic spindle organizing protein 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr11:45,000,735...45,019,009
Ensembl chr11:44,999,320...45,018,862
JBrowse link
G NDFIP2 Nedd4 family interacting protein 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr11:51,493,981...51,560,305
Ensembl chr11:51,420,166...51,560,305
JBrowse link
G NEK3 NIMA related kinase 3 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr11:15,772,578...15,798,424
Ensembl chr11:15,772,844...15,798,420
JBrowse link
G NEK5 NIMA related kinase 5 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr11:15,799,068...15,862,236
Ensembl chr11:15,801,354...15,862,231
JBrowse link
G NUDT15 nudix hydrolase 15 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr11:19,572,963...19,584,565
Ensembl chr11:19,572,644...19,584,538
JBrowse link
G OBI1 ORC ubiquitin ligase 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr11:50,741,893...50,786,824
Ensembl chr11:50,740,916...50,786,774
JBrowse link
G OLFM4 olfactomedin 4 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr11:26,252,948...26,375,531
Ensembl chr11:26,350,203...26,375,716
JBrowse link
G PCDH17 protocadherin 17 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr11:30,510,779...30,611,732
Ensembl chr11:30,511,261...30,611,727
JBrowse link
G PCDH20 protocadherin 20 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr11:34,384,507...34,390,265 JBrowse link
G PCDH9 protocadherin 9 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr11:38,522,221...39,455,166
Ensembl chr11:38,524,034...39,454,240
JBrowse link
G PHF11 PHD finger protein 11 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr11:18,205,073...18,252,082
Ensembl chr11:18,205,072...18,251,949
JBrowse link
G PIBF1 progesterone immunomodulatory binding factor 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr11:45,076,046...45,362,708
Ensembl chr11:45,076,061...45,362,891
JBrowse link
G POU4F1 POU class 4 homeobox 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr11:50,729,746...50,732,626
Ensembl chr11:50,730,428...50,732,340
JBrowse link
G RB1 RB transcriptional corepressor 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr11:19,186,754...19,317,642
Ensembl chr11:19,186,759...19,317,690
JBrowse link
G RBM26 RNA binding motif protein 26 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr11:51,337,388...51,421,746
Ensembl chr11:51,337,488...51,420,865
JBrowse link
G RCBTB1 RCC1 and BTB domain containing protein 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr11:18,132,013...18,197,759
Ensembl chr11:18,040,110...18,197,751
JBrowse link
G RCBTB2 RCC1 and BTB domain containing protein 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr11:19,081,841...19,182,488
Ensembl chr11:19,105,305...19,182,488
JBrowse link
G RNASEH2B ribonuclease H2 subunit B ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr11:16,825,799...16,911,959
Ensembl chr11:16,829,801...16,911,879
JBrowse link
G SCEL sciellin ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr11:49,651,589...49,777,777
Ensembl chr11:49,651,673...49,775,448
JBrowse link
G SERPINE3 serpin family E member 3 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr11:16,465,521...16,500,580
Ensembl chr11:16,466,475...16,500,558
JBrowse link
G SETDB2 SET domain bifurcated histone lysine methyltransferase 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr11:18,252,525...18,298,234
Ensembl chr11:18,252,527...18,297,826
JBrowse link
G SLAIN1 SLAIN motif family member 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr11:49,807,976...49,886,829
Ensembl chr11:49,807,994...49,886,820
JBrowse link
G SLITRK1 SLIT and NTRK like family member 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr11:54,950,669...54,955,768
Ensembl chr11:54,950,673...54,955,949
JBrowse link
G SLITRK6 SLIT and NTRK like family member 6 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr11:56,508,713...56,522,270
Ensembl chr11:56,508,709...56,522,212
JBrowse link
G SPRY2 sprouty RTK signaling antagonist 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr11:52,153,695...52,158,766
Ensembl chr11:52,153,704...52,160,497
JBrowse link
G SPRYD7 SPRY domain containing 7 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr11:17,849,011...17,870,090
Ensembl chr11:17,848,852...17,872,257
JBrowse link
G SUCLA2 succinate-CoA ligase ADP-forming subunit beta ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr11:19,616,415...19,670,667
Ensembl chr11:19,616,499...19,675,791
JBrowse link
G SUGT1 SGT1 homolog, MIS12 kinetochore complex assembly cochaperone ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr11:25,905,442...25,960,665
Ensembl chr11:25,906,010...25,954,210
JBrowse link
G TDRD3 tudor domain containing 3 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr11:33,257,556...33,440,131
Ensembl chr11:33,258,063...33,440,127
JBrowse link
G THSD1 thrombospondin type 1 domain containing 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr11:15,668,435...15,698,031
Ensembl chr11:15,667,640...15,697,872
JBrowse link
G TRIM13 tripartite motif containing 13 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr11:17,785,031...17,850,005
Ensembl chr11:17,792,467...17,849,732
JBrowse link
G UCHL3 ubiquitin C-terminal hydrolase L3 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr11:47,829,037...47,885,800
Ensembl chr11:47,829,103...47,887,629
JBrowse link
G VPS36 vacuolar protein sorting 36 homolog ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr11:15,701,370...15,735,469
Ensembl chr11:15,701,370...15,772,693
JBrowse link
G WDFY2 WD repeat and FYVE domain containing 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr11:16,086,872...16,272,513
Ensembl chr11:16,078,058...16,301,828
JBrowse link
chronic recurrent multifocal osteomyelitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACYP2 acylphosphatase 2 ISO ClinVar Annotator: match by term: Chronic osteomyelitis ClinVar NCBI chr 3:86,945,635...87,231,376 JBrowse link
G MLKL mixed lineage kinase domain like pseudokinase ISO ClinVar Annotator: match by term: Chronic multifocal osteomyelitis ClinVar NCBI chr 6:12,923,846...12,951,176
Ensembl chr 6:12,924,894...12,951,173
JBrowse link
G MYNN myoneurin ISO ClinVar Annotator: match by term: Chronic osteomyelitis ClinVar NCBI chr13:108,435,194...108,452,699
Ensembl chr13:108,435,324...108,457,255
JBrowse link
G TERT telomerase reverse transcriptase ISO ClinVar Annotator: match by term: Chronic osteomyelitis ClinVar PMID:28492532 NCBI chr16:79,258,591...79,276,421
Ensembl chr16:79,258,591...79,276,421
JBrowse link
G ZBTB46 zinc finger and BTB domain containing 46 ISO ClinVar Annotator: match by term: Chronic osteomyelitis ClinVar NCBI chr17:62,659,779...62,715,221
Ensembl chr17:62,659,784...62,709,239
JBrowse link
degenerative disc disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACAN aggrecan treatment ISO associated with Renal Insufficiency
mRNA:decreased expression:intervertebral disk
RGD PMID:19063844 PMID:24285589 RGD:10043178 RGD:11570539 NCBI chr 7:54,449,830...54,520,606
Ensembl chr 7:54,449,588...54,520,153
JBrowse link
G ADAMTS4 ADAM metallopeptidase with thrombospondin type 1 motif 4 ISO RGD PMID:22394620 RGD:10043115 NCBI chr 4:89,260,354...89,269,238
Ensembl chr 4:89,260,460...89,269,245
JBrowse link
G ADAMTS5 ADAM metallopeptidase with thrombospondin type 1 motif 5 ISO mRNA:increased expression:intervertebral disk of cervical vertebra RGD PMID:20948465 PMID:22394620 RGD:10043115 RGD:8661231 NCBI chr13:190,353,019...190,413,110
Ensembl chr13:190,361,449...190,412,949
JBrowse link
G ASPN asporin susceptibility
severity
ISO DNA:repeats:exon:
mRNA:increased expression:intervertebral disk:
RGD PMID:18304494 PMID:19327154 RGD:9684961 RGD:9684970 NCBI chr 3:42,165,553...42,192,902
Ensembl chr 3:42,165,553...42,192,813
JBrowse link
G BECN1 beclin 1 ISO protein:increased expression:intervertebral disc RGD PMID:22835012 RGD:11561942 NCBI chr12:20,041,914...20,054,249
Ensembl chr12:20,041,956...20,054,373
JBrowse link
G COL10A1 collagen type X alpha 1 chain ISO RGD PMID:20948465 RGD:8661231 NCBI chr 1:81,766,829...81,773,818
Ensembl chr 1:81,765,724...81,773,818
JBrowse link
G COL1A1 collagen type I alpha 1 chain ISO DNA:SNP: :rs2075555 (human) RGD PMID:19180518 RGD:5688293 NCBI chr12:26,379,087...26,397,180
Ensembl chr12:26,379,090...26,397,003
JBrowse link
G COL2A1 collagen type II alpha 1 chain treatment ISO associated with Renal Insufficiency
mRNA:decreased expression:intervertebral disc (rat)
RGD PMID:19063844 PMID:20948465 PMID:24285589 RGD:10043178 RGD:11570539 RGD:8661231 NCBI chr 5:78,350,131...78,380,893
Ensembl chr 5:78,350,220...78,380,924
JBrowse link
G CRK CRK proto-oncogene, adaptor protein treatment ISO RGD PMID:23055810 RGD:11568070 NCBI chr12:47,656,805...47,685,641 JBrowse link
G ERCC1 ERCC excision repair 1, endonuclease non-catalytic subunit ISO associated with Progeria RGD PMID:20973062 RGD:13207419 NCBI chr 6:51,783,537...51,808,898 JBrowse link
G GSK3B glycogen synthase kinase 3 beta ISO RGD PMID:29393545 RGD:13792726 NCBI chr13:140,136,109...140,370,197
Ensembl chr13:140,136,158...140,369,574
JBrowse link
G MAP1LC3A microtubule associated protein 1 light chain 3 alpha ISO protein:increased expression:intervertebral disc RGD PMID:22835012 RGD:11561942 NCBI chr17:37,957,830...37,959,505
Ensembl chr17:37,957,507...37,959,505
JBrowse link
G MMP1 matrix metallopeptidase 1 ISO RGD PMID:19916288 RGD:7207382 NCBI chr 9:33,411,738...33,420,205
Ensembl chr 9:33,411,065...33,454,000
JBrowse link
G MMP13 matrix metallopeptidase 13 treatment ISO mRNA:increased expression:intervertebral disc
associated with Renal Insufficiency
RGD PMID:19063844 PMID:20472983 PMID:20948465 RGD:10043178 RGD:2325859 RGD:8661231 NCBI chr 9:33,549,003...33,616,700
Ensembl chr 9:33,549,003...33,568,076
JBrowse link
G NGF nerve growth factor ISO RGD PMID:20973063 RGD:5144150 NCBI chr 4:105,256,691...105,307,843
Ensembl chr 4:105,256,417...105,307,842
JBrowse link
G NGFR nerve growth factor receptor ISO RGD PMID:20973063 RGD:5144150 NCBI chr12:25,699,410...25,720,355
Ensembl chr12:25,699,427...25,720,357
JBrowse link
G PAPPA pappalysin 1 ISO protein:increased expression:vertebral disc: RGD PMID:18552658 RGD:10412724 NCBI chr 1:256,544,496...256,784,813
Ensembl chr 1:256,544,928...256,780,779
JBrowse link
G POSTN periostin ISO protein:increased expression:tail intervertebral disc:
mRNA,protein:increased expression:nucleus pulposus:
RGD PMID:23453657 RGD:10040995 NCBI chr11:13,225,183...13,258,973
Ensembl chr11:13,182,272...13,259,019
JBrowse link
G SPARC secreted protein acidic and cysteine rich ISO CTD Direct Evidence: marker/mechanism CTD PMID:20714283 NCBI chr16:71,368,164...71,380,972
Ensembl chr16:71,357,703...71,381,160
JBrowse link
G TGFB1 transforming growth factor beta 1 ISO CTD Direct Evidence: therapeutic CTD PMID:21351055 NCBI chr 6:49,332,169...49,348,642
Ensembl chr 6:49,332,169...49,349,048
JBrowse link
G TIMP1 TIMP metallopeptidase inhibitor 1 treatment ISO associated with Renal Insufficiency RGD PMID:19063844 RGD:10043178 NCBI chr  X:42,103,251...42,106,289
Ensembl chr  X:42,102,172...42,106,297
JBrowse link
diffuse midline glioma, H3 K27M-mutant term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACVR1 activin A receptor type 1 ISO ClinVar Annotator: match by term: Diffuse intrinsic pontine glioma ClinVar PMID:24705250 PMID:24705254 PMID:26619011 PMID:31779674 NCBI chr15:64,749,478...64,891,653
Ensembl chr15:64,748,761...64,892,153
JBrowse link
G BRIP1 BRCA1 interacting helicase 1 ISO ClinVar Annotator: match by term: Diffuse intrinsic pontine glioma ClinVar PMID:16116424 PMID:16973432 PMID:18510924 PMID:19099189 PMID:19150983 More... NCBI chr12:36,498,138...36,639,847
Ensembl chr12:36,443,697...36,634,088
JBrowse link
G CHEK2 checkpoint kinase 2 ISO ClinVar Annotator: match by term: Diffuse intrinsic pontine glioma ClinVar PMID:10617473 PMID:11053450 PMID:11479205 PMID:11719428 PMID:11967536 More... NCBI chr14:45,699,833...45,967,350
Ensembl chr14:45,926,613...45,967,296
JBrowse link
G NF1 neurofibromin 1 ISO ClinVar Annotator: match by term: Diffuse intrinsic pontine glioma ClinVar PMID:25741868 PMID:28492532 NCBI chr12:43,487,098...43,754,205
Ensembl chr12:43,489,171...43,754,176
JBrowse link
Dyggve-Melchior-Clausen disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DYM dymeclin ISO OMIM NCBI chr 1:98,642,506...99,024,664
Ensembl chr 1:98,638,339...99,024,642
JBrowse link
dysembryoplastic neuroepithelial tumor term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BRAF B-Raf proto-oncogene, serine/threonine kinase ISO DNA:mutation:cds:p.V600E(human) RGD PMID:25346165 RGD:11567238 NCBI chr18:8,957,963...9,132,558
Ensembl chr18:8,957,959...9,132,553
JBrowse link
Ehlers-Danlos syndrome kyphoscoliotic type 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FKBP14 FKBP prolyl isomerase 14 ISO OMIM NCBI chr18:42,903,100...42,913,609
Ensembl chr18:42,901,173...42,913,884
JBrowse link
Ependymomas term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BCL7C BAF chromatin remodeling complex subunit BCL7C ISO CTD Direct Evidence: marker/mechanism CTD PMID:26075792 NCBI chr 3:17,547,546...17,589,431
Ensembl chr 3:17,547,582...17,589,846
JBrowse link
G EPHB2 EPH receptor B2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26075792 NCBI chr 6:80,649,098...80,849,979
Ensembl chr 6:80,649,143...80,843,567
JBrowse link
G GDNF glial cell derived neurotrophic factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:19138852 NCBI chr16:22,936,602...22,965,929
Ensembl chr16:22,936,601...22,965,886
JBrowse link
G IGF2 insulin like growth factor 2 ISO mRNA:increased expression:cerebellum RGD PMID:18478565 RGD:5509961 NCBI chr 2:1,469,183...1,496,417 JBrowse link
G RAB3A RAB3A, member RAS oncogene family ISO CTD Direct Evidence: marker/mechanism CTD PMID:26075792 NCBI chr 2:59,603,090...59,609,773
Ensembl chr 2:59,603,117...59,609,767
JBrowse link
G RTBDN retbindin ISO CTD Direct Evidence: marker/mechanism CTD PMID:26075792 NCBI chr 2:66,188,077...66,191,434
Ensembl chr 2:66,188,089...66,193,654
JBrowse link
G SHC3 SHC adaptor protein 3 ISO DNA:amplification:brain: RGD PMID:19748727 RGD:13782069 NCBI chr14:672,439...836,090
Ensembl chr14:680,236...836,133
JBrowse link
G ZNF668 zinc finger protein 668 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26075792 NCBI chr 3:17,406,263...17,417,115
Ensembl chr 3:17,406,273...17,416,804
JBrowse link
Familial Horizontal Gaze Palsy with Progressive Scoliosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DCC DCC netrin 1 receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:28250456 NCBI chr 1:101,518,629...103,087,021
Ensembl chr 1:102,080,200...103,087,249
JBrowse link
G ROBO3 roundabout guidance receptor 3 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 9:52,065,043...52,081,764
Ensembl chr 9:52,065,581...52,081,629
JBrowse link
Familial Horizontal Gaze Palsy with Progressive Scoliosis, 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ROBO3 roundabout guidance receptor 3 ISO OMIM NCBI chr 9:52,065,043...52,081,764
Ensembl chr 9:52,065,581...52,081,629
JBrowse link
Familial Horizontal Gaze Palsy with Progressive Scoliosis, 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DCC DCC netrin 1 receptor ISO OMIM NCBI chr 1:101,518,629...103,087,021
Ensembl chr 1:102,080,200...103,087,249
JBrowse link
familial retinoblastoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RB1 RB transcriptional corepressor 1 ISO DNA:mutations:promoter, intron, exon:multiple RGD PMID:17096365 RGD:8547984 NCBI chr11:19,186,754...19,317,642
Ensembl chr11:19,186,759...19,317,690
JBrowse link
fibrillary astrocytoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KRAS KRAS proto-oncogene, GTPase ISO mRNA:decreased expression:brain RGD PMID:19179066 RGD:13702872 NCBI chr 5:48,508,774...48,546,260
Ensembl chr 5:48,508,790...48,549,346
JBrowse link
glioblastoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACTR3 actin related protein 3 ISO mRNA:increased expression:brain (human) RGD PMID:25682201 RGD:11570557 NCBI chr15:20,104,808...20,171,721
Ensembl chr15:20,104,846...20,208,186
JBrowse link
G ADGRB1 adhesion G protein-coupled receptor B1 treatment ISO mRNA:decreased expression:brain: RGD PMID:12507886 PMID:16244591 RGD:13831352 RGD:13831355 NCBI chr 4:1,582,321...1,658,639
Ensembl chr 4:1,582,324...1,659,163
JBrowse link
G ADGRL4 adhesion G protein-coupled receptor L4 treatment
severity
ISO RGD PMID:23096411 PMID:27416955 RGD:13838664 RGD:13838665 NCBI chr 6:134,362,714...134,462,697
Ensembl chr 6:134,362,901...134,462,694
JBrowse link
G AKT1 AKT serine/threonine kinase 1 ISO RGD PMID:10802656 RGD:734543
G AKT3 AKT serine/threonine kinase 3 disease_progression ISO RGD PMID:27422127 RGD:13674164 NCBI chr10:16,441,465...16,741,745
Ensembl chr10:16,441,447...16,741,339
JBrowse link
G APC APC regulator of WNT signaling pathway ISO CTD Direct Evidence: marker/mechanism CTD PMID:7661930 NCBI chr 2:116,913,354...116,985,303
Ensembl chr 2:116,812,582...117,034,912
JBrowse link
G ASPM assembly factor for spindle microtubules ISO mRNA:increased expression:brain: RGD PMID:18636190 RGD:13439742 NCBI chr10:19,971,516...20,039,680
Ensembl chr10:19,975,189...20,039,623
JBrowse link
G ATM ATM serine/threonine kinase ISO ClinVar Annotator: match by term: Glioblastoma ClinVar PMID:9054948 PMID:19781682 PMID:23322442 PMID:25525159 PMID:25741868 More... NCBI chr 9:36,620,656...36,759,555
Ensembl chr 9:36,620,658...36,759,554
JBrowse link
G ATRX ATRX chromatin remodeler disease_progression ISO ClinVar Annotator: match by term: Glioblastoma multiforme, somatic RGD
ClinVar
PMID:27478330 RGD:13442489 NCBI chr  X:61,584,028...61,872,341
Ensembl chr  X:61,584,848...61,872,288
JBrowse link
G BAG3 BAG cochaperone 3 treatment ISO RGD PMID:21561597 RGD:5687132 NCBI chr14:129,510,240...129,533,998
Ensembl chr14:129,510,293...129,533,996
JBrowse link
G BCHE butyrylcholinesterase ISO CTD Direct Evidence: marker/mechanism CTD PMID:2317787 NCBI chr13:104,946,732...105,007,568 JBrowse link
G BECN1 beclin 1 disease_progression ISO RGD PMID:20863706 RGD:6483102 NCBI chr12:20,041,914...20,054,249
Ensembl chr12:20,041,956...20,054,373
JBrowse link
G BHLHE40 basic helix-loop-helix family member e40 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23582323 NCBI chr13:61,526,121...61,533,686
Ensembl chr13:61,526,197...61,533,686
JBrowse link
G BMI1 BMI1 proto-oncogene, polycomb ring finger ISO CTD Direct Evidence: marker/mechanism CTD PMID:19823589 NCBI chr10:52,586,089...52,596,154
Ensembl chr10:52,586,280...52,596,376
JBrowse link
G BRAF B-Raf proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: Glioblastoma ClinVar PMID:12068308 PMID:12198537 PMID:12447372 PMID:12460918 PMID:12460919 More... NCBI chr18:8,957,963...9,132,558
Ensembl chr18:8,957,959...9,132,553
JBrowse link
G BRD2 bromodomain containing 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27388964 NCBI chr 7:25,096,579...25,162,591
Ensembl chr 7:25,150,658...25,165,433
JBrowse link
G BRD4 bromodomain containing 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26455392 PMID:27388964 NCBI chr 2:62,250,958...62,345,851
Ensembl chr 2:62,250,987...62,345,387
JBrowse link
G BRD7 bromodomain containing 7 ISO protein:increased expression:brain: RGD PMID:24404152 RGD:9586441 NCBI chr 6:34,478,008...34,519,622
Ensembl chr 6:34,478,012...34,519,664
JBrowse link
G C9H11orf65 chromosome 9 C11orf65 homolog ISO ClinVar Annotator: match by term: Glioblastoma ClinVar PMID:9054948 PMID:19781682 PMID:23322442 PMID:25525159 PMID:25741868 More... NCBI chr 9:36,768,819...36,855,318
Ensembl chr 9:36,769,342...36,849,575
JBrowse link
G CBX6 chromobox 6 disease_progression ISO mRNA,protein:decreased expression:astrocyte: RGD PMID:24260522 RGD:9587354 NCBI chr 5:9,180,559...9,191,414
Ensembl chr 5:9,180,675...9,188,652
JBrowse link
G CBX7 chromobox 7 disease_progression ISO mRNA,protein:decreased expression:astrocyte: RGD PMID:24260522 RGD:9587354 NCBI chr 5:9,070,312...9,090,467 JBrowse link
G CBX8 chromobox 8 ISO mRNA:increased expression:astrocyte: RGD PMID:24260522 RGD:9587354 NCBI chr12:2,562,419...2,565,035
Ensembl chr12:2,562,393...2,566,145
JBrowse link
G CCNH cyclin H ISO CTD Direct Evidence: marker/mechanism CTD PMID:30705370 NCBI chr 2:94,980,938...95,019,053
Ensembl chr 2:94,980,940...95,018,726
JBrowse link
G CD9 CD9 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:26573230 NCBI chr 5:64,420,177...64,459,783
Ensembl chr 5:64,420,182...64,460,304
JBrowse link
G CDK4 cyclin dependent kinase 4 ISO DNA:amplication RGD PMID:23796897 RGD:13702089 NCBI chr 5:23,039,206...23,041,959
Ensembl chr 5:23,038,889...23,042,061
JBrowse link
G CDK6 cyclin dependent kinase 6 severity ISO CTD Direct Evidence: marker/mechanism RGD
CTD
PMID:10884881 PMID:20534551 RGD:13702095 NCBI chr 9:72,510,858...72,765,631
Ensembl chr 9:72,518,101...72,764,129
JBrowse link
G CHAF1B chromatin assembly factor 1 subunit B ISO protein:increased expression:brain: RGD PMID:24039914 RGD:9587472 NCBI chr13:200,048,096...200,074,902
Ensembl chr13:200,048,131...200,072,556
JBrowse link
G CHI3L1 chitinase 3 like 1 ISO mRNA:increased expression:brain, tumor (human)
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:11161003 PMID:21029458 RGD:4892621 NCBI chr 9:113,885,541...113,895,033
Ensembl chr 9:113,885,542...113,895,510
JBrowse link
G CPEB1 cytoplasmic polyadenylation element binding protein 1 disease_progression ISO RGD PMID:23360795 RGD:9685152 NCBI chr 7:52,329,054...52,382,408
Ensembl chr 7:52,304,472...52,383,734
JBrowse link
G CREBBP CREB binding protein ISO ClinVar Annotator: match by term: Glioblastoma ClinVar PMID:21390126 PMID:21680795 PMID:21796119 PMID:22832583 PMID:23334668 More... NCBI chr 3:38,388,366...38,530,243
Ensembl chr 3:38,388,547...38,530,230
JBrowse link
G CSTB cystatin B ISO CTD Direct Evidence: marker/mechanism CTD PMID:22287159 NCBI chr13:206,706,060...206,710,598
Ensembl chr13:206,706,063...206,710,646
JBrowse link
G CTNND2 catenin delta 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23917401 NCBI chr16:508,630...1,521,773
Ensembl chr16:508,634...1,521,611
JBrowse link
G CTSB cathepsin B ISO CTD Direct Evidence: marker/mechanism
protein:increased expression:glioma cell (human)
CTD
RGD
PMID:17898873 PMID:22287159 RGD:2315515 NCBI chr14:15,014,139...15,035,081
Ensembl chr14:15,011,711...15,034,737
JBrowse link
G CTSH cathepsin H ISO protein:increased expression:brain RGD PMID:8640738 RGD:1549417 NCBI chr 7:48,084,882...48,106,072
Ensembl chr 7:48,083,569...48,106,041
JBrowse link
G CXCL8 C-X-C motif chemokine ligand 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16356833 NCBI chr 8:69,932,646...69,935,861
Ensembl chr 8:69,932,643...69,935,861
JBrowse link
G DEUP1 deuterosome assembly protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30705370 NCBI chr 9:25,688,394...25,893,105
Ensembl chr 9:25,689,034...25,893,096
JBrowse link
G DMBT1 deleted in malignant brain tumors 1 ISO DNA:deletion RGD PMID:9288095 RGD:1599778 NCBI chr14:132,154,346...132,231,274 JBrowse link
G DNMT3A DNA methyltransferase 3 alpha ISO ClinVar Annotator: match by term: Glioblastoma ClinVar NCBI chr 3:113,501,972...113,609,148
Ensembl chr 3:113,528,926...113,609,139
JBrowse link
G DUSP6 dual specificity phosphatase 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21499306 NCBI chr 5:93,303,058...93,307,510
Ensembl chr 5:93,302,975...93,307,504
JBrowse link
G E2F1 E2F transcription factor 1 disease_progression ISO RGD PMID:16264179 RGD:13702471 NCBI chr17:37,178,587...37,190,118
Ensembl chr17:37,178,598...37,189,841
JBrowse link
G EGF epidermal growth factor susceptibility ISO DNA:polymorphism:promoter:+61A>G(human)
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:16598420 PMID:22481252 RGD:13702472 NCBI chr 8:112,235,607...112,330,062
Ensembl chr 8:112,234,365...112,330,046
JBrowse link
G EGFR epidermal growth factor receptor ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Glioblastoma
ClinVar Annotator: match by term: Glioblastoma multiforme, somatic
CTD
ClinVar
PMID:2302402 PMID:15118073 PMID:15118125 PMID:15329413 PMID:15710947 More... NCBI chr 9:139,302,410...139,474,632
Ensembl chr 9:139,300,022...139,478,882
JBrowse link
G ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1 severity ISO protein:increased expression:brain (human) RGD PMID:21195542 RGD:13204719 NCBI chr 1:31,724,290...31,796,594
Ensembl chr 1:31,722,721...31,796,595
JBrowse link
G EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit treatment ISO RGD PMID:25595591 RGD:14928319 NCBI chr 9:109,384,976...109,450,943
Ensembl chr 9:109,384,995...109,450,941
JBrowse link
G FABP7 fatty acid binding protein 7 severity ISO mRNA, protein:increased expression:brain (human) RGD PMID:15827123 RGD:1578468 NCBI chr 1:39,872,198...39,876,272
Ensembl chr 1:39,871,145...39,876,387
JBrowse link
G FAT1 FAT atypical cadherin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23354438 NCBI chr17:8,466,099...8,580,715
Ensembl chr17:8,448,760...8,580,715
JBrowse link
G FBXW7 F-box and WD repeat domain containing 7 ISO ClinVar Annotator: match by term: Glioblastoma ClinVar PMID:26619011 NCBI chr 8:76,482,027...76,699,354
Ensembl chr 8:76,482,022...76,699,351
JBrowse link
G FGFR1 fibroblast growth factor receptor 1 ISO ClinVar Annotator: match by term: Glioblastoma ClinVar PMID:25705862 PMID:26619011 PMID:26942290 NCBI chr15:48,053,895...48,106,634
Ensembl chr15:48,053,340...48,106,746
JBrowse link
G FN1 fibronectin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17099729 NCBI chr15:117,658,158...117,737,145
Ensembl chr15:117,658,099...117,731,014
JBrowse link
G FOSL2 FOS like 2, AP-1 transcription factor subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:23582323 NCBI chr 3:110,820,403...110,842,903
Ensembl chr 3:110,823,666...110,843,068
JBrowse link
G GDNF glial cell derived neurotrophic factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:19138852 NCBI chr16:22,936,602...22,965,929
Ensembl chr16:22,936,601...22,965,886
JBrowse link
G GRIK2 glutamate ionotropic receptor kainate type subunit 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30705370 NCBI chr 1:68,052,086...68,680,448
Ensembl chr 1:68,057,737...68,679,278
JBrowse link
G H3-3A H3 histone, family 3A ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Glioblastoma
CTD
ClinVar
PMID:22286216 PMID:23817572 PMID:26619011 PMID:26822237 NCBI chr10:13,939,938...13,947,976
Ensembl chr10:13,939,594...13,948,000
JBrowse link
G HEATR1 HEAT repeat containing 1 ISO mRNA, protein:increased expression:brain RGD PMID:25126583 RGD:10761721 NCBI chr14:54,821,073...54,870,873
Ensembl chr14:54,821,171...54,869,857
JBrowse link
G HES1 hes family bHLH transcription factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21127729 NCBI chr13:131,135,970...131,137,865
Ensembl chr13:131,135,724...131,138,236
JBrowse link
G HEY1 hes related family bHLH transcription factor with YRPW motif 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21127729 NCBI chr 4:56,859,640...56,863,807
Ensembl chr 4:56,859,663...56,863,789
JBrowse link
G HIF1A hypoxia inducible factor 1 subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:12811834 NCBI chr 1:190,625,436...190,673,926
Ensembl chr 1:190,625,181...190,674,850
JBrowse link
G HRAS HRas proto-oncogene, GTPase severity ISO DNA:missense mutation:cds:p.G61L(human)
ClinVar Annotator: match by term: Glioblastoma
RGD
ClinVar
PMID:11150980 PMID:16155195 PMID:16170316 PMID:16329078 PMID:16372351 More... RGD:13702475 RGD:13702872 NCBI chr 2:299,662...302,539
Ensembl chr 2:299,660...302,501
JBrowse link
G IDH1 isocitrate dehydrogenase (NADP(+)) 1 onset
disease_progression
ISO DNA:mutation:cds:p.R132H(human)
ClinVar Annotator: match by term: Glioblastoma
ClinVar Annotator: match by term: Glioblastoma multiforme, somatic
DNA:mutation:cds:p.R132(human)
RGD
ClinVar
PMID:18772396 PMID:19657110 PMID:19765000 PMID:19798509 PMID:19818334 More... RGD:11074562 RGD:11522732 NCBI chr15:111,341,153...111,362,330
Ensembl chr15:111,341,152...111,362,280
JBrowse link
G IL16 interleukin 16 ISO protein:increased expression:brain RGD PMID:17221335 RGD:5024941 NCBI chr 7:49,973,937...50,102,346
Ensembl chr 7:49,974,068...50,102,332
JBrowse link
G IL2 interleukin 2 ISO CTD Direct Evidence: therapeutic CTD PMID:7719933 NCBI chr 8:101,640,938...101,645,683
Ensembl chr 8:101,640,944...101,645,609
JBrowse link
G JAG1 jagged canonical Notch ligand 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21127729 NCBI chr17:19,591,248...19,629,659
Ensembl chr17:19,591,252...19,630,085
JBrowse link
G JAG2 jagged canonical Notch ligand 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21127729
G KCNC2 potassium voltage-gated channel subfamily C member 2 ISO mRNA:splice variant (human) RGD PMID:18474104 RGD:9686067 NCBI chr 5:38,326,408...38,535,826
Ensembl chr 5:38,326,408...38,533,110
JBrowse link
G KDR kinase insert domain receptor treatment ISO RGD PMID:26325365 RGD:11529678 NCBI chr 8:41,809,116...41,856,379
Ensembl chr 8:41,809,116...41,856,339
JBrowse link
G KRAS KRAS proto-oncogene, GTPase treatment ISO mRNA:decreased expression:brain RGD PMID:16166301 PMID:19179066 RGD:13702861 RGD:13702872 NCBI chr 5:48,508,774...48,546,260
Ensembl chr 5:48,508,790...48,549,346
JBrowse link
G L1CAM L1 cell adhesion molecule ISO mRNA:decreased expression:brain, temporal lobe (human) RGD PMID:20419098 RGD:6483067 NCBI chr  X:124,595,649...124,618,292
Ensembl chr  X:124,595,651...124,618,307
JBrowse link
G LOC100513779 solute carrier family 22 member 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30705370 NCBI chr 2:8,580,673...8,603,553 JBrowse link
G LOC100522201 histone H2AX ISO CTD Direct Evidence: marker/mechanism CTD PMID:26651356 NCBI chr 9:46,308,824...46,310,494
Ensembl chr 9:46,309,653...46,310,084
JBrowse link
G LOC110258578 interleukin-1 beta-like ISO CTD Direct Evidence: marker/mechanism CTD PMID:16356833
G LOC396867 stefin A8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22287159 NCBI chr13:138,216,027...138,226,397
Ensembl chr13:138,181,723...138,236,860
JBrowse link
G LRRC56 leucine rich repeat containing 56 ISO ClinVar Annotator: match by term: Glioblastoma ClinVar PMID:11150980 PMID:16155195 PMID:16170316 PMID:16329078 PMID:16372351 More... NCBI chr 2:303,836...323,701
Ensembl chr 2:304,429...323,700
JBrowse link
G LRRC59 leucine rich repeat containing 59 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30705370 NCBI chr12:26,678,207...26,694,277
Ensembl chr12:26,675,054...26,694,271
JBrowse link
G LTBP4 latent transforming growth factor beta binding protein 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27270107 NCBI chr 6:48,831,018...48,861,503
Ensembl chr 6:48,831,014...48,861,507
JBrowse link
G LZTR1 leucine zipper like transcription regulator 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23917401 NCBI chr14:50,576,413...50,590,397
Ensembl chr14:50,569,746...50,589,787
JBrowse link
G MACIR macrophage immunometabolism regulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:30705370 NCBI chr 2:108,733,347...108,753,276
Ensembl chr 2:108,733,305...108,753,275
JBrowse link
G MAP1LC3A microtubule associated protein 1 light chain 3 alpha treatment ISO RGD PMID:24905460 RGD:11561946 NCBI chr17:37,957,830...37,959,505
Ensembl chr17:37,957,507...37,959,505
JBrowse link
G MAP2K2 mitogen-activated protein kinase kinase 2 treatment ISO RGD PMID:26189368 RGD:13702862 NCBI chr 2:74,626,739...74,651,352
Ensembl chr 2:74,626,658...74,651,348
JBrowse link
G MAP2K3 mitogen-activated protein kinase kinase 3 disease_progression ISO protein:increased expression, increased phosphorylation:brain RGD PMID:17406030 RGD:1641940 NCBI chr12:61,396,337...61,417,333
Ensembl chr12:61,396,331...61,421,579
JBrowse link
G MDM2 MDM2 proto-oncogene ISO DNA:amplication RGD PMID:23796897 RGD:13702089 NCBI chr 5:33,105,717...33,137,602
Ensembl chr 5:33,086,994...33,178,089
JBrowse link
G MDM4 MDM4 regulator of p53 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20472715 NCBI chr 9:65,175,488...65,219,747
Ensembl chr 9:65,175,377...65,223,132
JBrowse link
G MED12 mediator complex subunit 12 ISO ClinVar Annotator: match by term: Glioblastoma ClinVar PMID:26822237 NCBI chr  X:57,150,884...57,174,367
Ensembl chr  X:57,150,578...57,175,352
JBrowse link
G MET MET proto-oncogene, receptor tyrosine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:22162573 NCBI chr18:29,426,044...29,541,526
Ensembl chr18:29,426,044...29,541,512
JBrowse link
G MGMT O-6-methylguanine-DNA methyltransferase ISO DNA:transition:cds:p.L84F (human)
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:14669534 PMID:20131314 PMID:22162573 RGD:2317667 NCBI chr14:138,502,005...138,771,543
Ensembl chr14:138,499,161...138,779,938
JBrowse link
G MIR21 microRNA mir-21 ameliorates ISO RGD PMID:31730913 RGD:41404645 NCBI chr12:36,065,267...36,065,358
Ensembl chr12:36,065,267...36,065,358
JBrowse link
G MMP2 matrix metallopeptidase 2 severity ISO protein:increased expression:brain (human)
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:7616276 PMID:16598420 RGD:7207145 NCBI chr 6:30,059,247...30,087,031
Ensembl chr 6:30,058,594...30,086,982
JBrowse link
G MMP7 matrix metallopeptidase 7 severity ISO protein:increased expression:brain (human) RGD PMID:7616276 RGD:7207145 NCBI chr 9:33,214,590...33,225,080
Ensembl chr 9:33,214,594...33,225,080
JBrowse link
G MMP9 matrix metallopeptidase 9 severity
treatment
ISO protein:increased expression:brain (human)
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:7616276 PMID:12439751 PMID:16598420 RGD:7207145 RGD:8547973 NCBI chr17:48,179,690...48,186,782
Ensembl chr17:48,175,056...48,188,264
JBrowse link
G MSH2 mutS homolog 2 ISO ClinVar Annotator: match by term: Glioblastoma ClinVar PMID:25741868 NCBI chr 3:93,082,958...93,163,556
Ensembl chr 3:93,081,219...93,163,628
JBrowse link
G MTOR mechanistic target of rapamycin kinase ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Glioblastoma
CTD
ClinVar
PMID:24631838 PMID:25741868 PMID:26018084 PMID:26619011 PMID:27159400 More... NCBI chr 6:71,286,989...71,412,913
Ensembl chr 6:71,286,989...71,412,888
JBrowse link
G MYC MYC proto-oncogene, bHLH transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:21127729 NCBI chr 4:12,455,141...12,460,360
Ensembl chr 4:12,455,119...12,461,078
JBrowse link
G MYCN MYCN proto-oncogene, bHLH transcription factor ISO ClinVar Annotator: match by term: Glioblastoma ClinVar PMID:26619011 NCBI chr 3:121,543,201...121,549,678
Ensembl chr 3:121,542,275...121,549,491
JBrowse link
G NCOR1 nuclear receptor corepressor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17312396 NCBI chr12:59,256,868...59,392,564 JBrowse link
G NDRG1 N-myc downstream regulated 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15341671 NCBI chr 4:8,014,445...8,069,335
Ensembl chr 4:8,014,446...8,069,333
JBrowse link
G NDRG4 NDRG family member 4 ISO mRNA, protein:decreased expression:brain RGD PMID:22489821 RGD:7247726 NCBI chr 6:20,222,876...20,265,581
Ensembl chr 6:20,223,871...20,265,577
JBrowse link
G NF1 neurofibromin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25119042 NCBI chr12:43,487,098...43,754,205
Ensembl chr12:43,489,171...43,754,176
JBrowse link
G NFKBIA NFKB inhibitor alpha treatment ISO human cell line in a mouse model RGD PMID:15692608 RGD:127285387 NCBI chr 7:64,508,119...64,510,754
Ensembl chr 7:64,508,016...64,558,057
JBrowse link
G NOTCH1 notch receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21127729
G NOTCH2 notch receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21127729 NCBI chr 4:100,951,522...101,152,348
Ensembl chr 4:100,951,507...101,150,198
JBrowse link
G NOTCH3 notch receptor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21127729 NCBI chr 2:62,364,507...62,402,348
Ensembl chr 2:62,364,501...62,402,344
JBrowse link
G NRAS NRAS proto-oncogene, GTPase ISO DNA:mutation:cds:c.35G>A, p.G12D(human)
ClinVar Annotator: match by term: Glioblastoma
DNA:amplication::
RGD
ClinVar
PMID:1654209 PMID:2278970 PMID:2674680 PMID:3122217 PMID:6587382 More... RGD:13702875 RGD:13702876 NCBI chr 4:105,845,913...105,853,769
Ensembl chr 4:105,845,872...105,858,227
JBrowse link
G P14ARF p14ARF protein treatment ISO RGD PMID:10720483 RGD:8552659 NCBI chr 1:200,774,496...200,799,149
Ensembl chr 1:200,774,496...200,798,854
JBrowse link
G PDGFB platelet derived growth factor subunit B ISO RGD PMID:21210235 RGD:6482799 Ensembl chr 5:8,986,461...9,007,446 JBrowse link
G PDGFRB platelet derived growth factor receptor beta treatment ISO RGD PMID:24566984 RGD:13702903 NCBI chr 2:151,155,753...151,192,818
Ensembl chr 2:151,155,754...151,192,647
JBrowse link
G PDPN podoplanin ISO RGD PMID:16979138 RGD:2292241 NCBI chr 6:73,019,063...73,050,000
Ensembl chr 6:73,019,057...73,049,998
JBrowse link
G PECAM1 platelet and endothelial cell adhesion molecule 1 ISO RGD PMID:21858729 RGD:6771207 NCBI chr12:14,667,643...14,723,296
Ensembl chr12:14,582,481...14,723,336
JBrowse link
G PGF placental growth factor disease_progression ISO RGD PMID:20458050 RGD:6483585 NCBI chr 7:98,149,510...98,162,784 JBrowse link
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 More... NCBI chr13:117,193,935...117,282,151
Ensembl chr13:117,180,544...117,277,232
JBrowse link
G PIK3CB phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta disease_progression ISO RGD PMID:21188471 PMID:26956052 RGD:11343921 RGD:13782050 NCBI chr13:79,427,033...79,610,840
Ensembl chr13:79,425,812...79,610,840
JBrowse link
G PIK3CD phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta disease_progression ISO RGD PMID:24523440 RGD:13782051 NCBI chr 6:70,026,254...70,086,950
Ensembl chr 6:70,026,373...70,099,244
JBrowse link
G PIK3R1 phosphoinositide-3-kinase regulatory subunit 1 ISO ClinVar Annotator: match by term: Glioblastoma ClinVar PMID:19962457 PMID:25157968 PMID:26619011 NCBI chr16:46,434,757...46,523,626
Ensembl chr16:46,434,873...46,523,609
JBrowse link
G PIM1 Pim-1 proto-oncogene, serine/threonine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:23724780 NCBI chr 7:32,788,246...32,793,882
Ensembl chr 7:32,788,005...32,793,880
JBrowse link
G PML PML nuclear body scaffold ISO CTD Direct Evidence: marker/mechanism CTD PMID:23440206 NCBI chr 7:59,405,044...59,450,155
Ensembl chr 7:59,405,048...59,450,150
JBrowse link
G POLE DNA polymerase epsilon, catalytic subunit ISO ClinVar Annotator: match by term: Glioblastoma ClinVar PMID:25228659 PMID:26619011 PMID:29352080 NCBI chr14:22,798,146...22,852,818
Ensembl chr14:22,798,192...22,853,547
JBrowse link
G POLK DNA polymerase kappa ISO CTD Direct Evidence: marker/mechanism CTD PMID:26651356 NCBI chr 2:84,555,648...84,619,490
Ensembl chr 2:84,538,050...84,656,234
JBrowse link
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 chr13:68,301,566...68,433,951
Ensembl chr13:68,302,655...68,433,947
JBrowse link
G PRKN parkin RBR E3 ubiquitin protein ligase ISO CTD Direct Evidence: marker/mechanism CTD PMID:19946270 NCBI chr 1:5,698,508...6,731,132
Ensembl chr 1:5,465,511...6,730,881
JBrowse link
G PROM1 prominin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18679414 PMID:18829568 PMID:19718438 NCBI chr 8:11,215,659...11,331,442
Ensembl chr 8:11,215,659...11,317,312
JBrowse link
G PTEN phosphatase and tensin homolog ISO ClinVar Annotator: match by term: Glioblastoma ClinVar PMID:9140396 PMID:9241266 PMID:9259288 PMID:9399897 PMID:9467011 More... NCBI chr14:99,929,590...100,021,619 JBrowse link
G PTGS1 prostaglandin-endoperoxide synthase 1 disease_progression ISO protein:increased expression:microglia, macrophage, RGD PMID:10229132 PMID:11121536 RGD:5688245 RGD:5688250 NCBI chr 1:262,456,106...262,482,159
Ensembl chr 1:262,456,155...262,483,035
JBrowse link
G PTGS2 prostaglandin-endoperoxide synthase 2 disease_progression ISO protein:increased expression:endothelial cell RGD PMID:10229132 PMID:11121536 RGD:5688245 RGD:5688250 NCBI chr 9:127,850,164...127,858,866
Ensembl chr 9:127,850,013...127,858,884
JBrowse link
G PTK2 protein tyrosine kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12811834 NCBI chr 4:2,656,606...2,896,060
Ensembl chr 4:2,656,613...2,896,060
JBrowse link
G RB1 RB transcriptional corepressor 1 severity ISO DNA:hypermethylation:promoter: RGD PMID:11204276 RGD:13782067 NCBI chr11:19,186,754...19,317,642
Ensembl chr11:19,186,759...19,317,690
JBrowse link
G RECK reversion inducing cysteine rich protein with kazal motifs ISO CTD Direct Evidence: therapeutic CTD PMID:20127710 NCBI chr 1:236,821,243...236,898,280
Ensembl chr 1:236,821,398...236,898,279
JBrowse link
G RPL35A ribosomal protein L35a ISO mRNA:increased expression:brain (human) RGD PMID:10880769 RGD:11535077 NCBI chr13:134,588,288...134,591,873
Ensembl chr13:134,588,333...134,647,965
JBrowse link
G RPL5 ribosomal protein L5 ISO DNA:mutations:multiple (human) RGD PMID:26892688 RGD:11535147 NCBI chr 4:124,359,786...124,367,612
Ensembl chr 4:124,358,592...124,367,647
JBrowse link
G RUNX1 RUNX family transcription factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23582323 NCBI chr13:198,371,835...198,635,648
Ensembl chr13:198,371,835...198,638,189
JBrowse link
G RUNX3 RUNX family transcription factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16909125 NCBI chr 6:82,531,203...82,595,044
Ensembl chr 6:82,531,215...82,595,026
JBrowse link
G SEPTIN14 septin 14 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23917401 NCBI chr 3:16,988,590...17,026,258
Ensembl chr 3:16,990,990...17,025,948
JBrowse link
G SERPING1 serpin family G member 1 treatment ISO RGD PMID:28880870 RGD:13525003 NCBI chr 2:13,324,160...13,338,826
Ensembl chr 2:13,324,158...13,338,663
JBrowse link
G SLX4 SLX4 structure-specific endonuclease subunit ISO ClinVar Annotator: match by term: Glioblastoma multiforme ClinVar PMID:25741868 NCBI chr 3:38,646,904...38,670,173
Ensembl chr 3:38,646,938...38,670,166
JBrowse link
G SRRT serrate, RNA effector molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:30542699 NCBI chr 3:8,717,782...8,731,204
Ensembl chr 3:8,717,785...8,731,201
JBrowse link
G SUZ12 SUZ12 polycomb repressive complex 2 subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:25119042 NCBI chr12:42,983,597...43,032,671
Ensembl chr12:42,983,997...43,032,644
JBrowse link
G TES testin LIM domain protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:16909125 NCBI chr18:29,895,878...29,936,248
Ensembl chr18:29,895,878...29,936,233
JBrowse link
G TGM2 transglutaminase 2 ISO CTD Direct Evidence: marker/mechanism|therapeutic CTD PMID:16170020 PMID:17099729 NCBI chr17:41,186,765...41,221,686
Ensembl chr17:41,186,766...41,221,637
JBrowse link
G TMEM135 transmembrane protein 135 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30705370 NCBI chr 9:20,741,085...21,020,899
Ensembl chr 9:20,721,956...21,024,995
JBrowse link
G TNC tenascin C ISO RGD PMID:16928692 RGD:4889612 NCBI chr 1:255,533,235...255,630,381
Ensembl chr 1:255,532,449...255,630,377
JBrowse link
G TNFSF10 TNF superfamily member 10 ISO CTD Direct Evidence: therapeutic CTD PMID:21877938 NCBI chr13:111,021,952...111,103,060
Ensembl chr13:110,981,604...111,107,423
JBrowse link
G TP53 tumor protein p53 ISO ClinVar Annotator: match by term: Glioblastoma
ClinVar Annotator: match by term: Glioblastoma, somatic
ClinVar PMID:1349175 PMID:1359493 PMID:1467311 PMID:1565143 PMID:1565144 More... NCBI chr12:52,939,643...52,953,786
Ensembl chr12:52,939,643...52,953,819
JBrowse link
G TP53BP1 tumor protein p53 binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30705370 NCBI chr 1:127,958,500...128,032,370
Ensembl chr 1:127,958,518...128,028,718
JBrowse link
G TRMT11 tRNA methyltransferase 11 homolog ISO CTD Direct Evidence: marker/mechanism CTD PMID:30705370 NCBI chr 1:36,930,857...37,002,079
Ensembl chr 1:36,930,957...37,002,056
JBrowse link
G VEGFA vascular endothelial growth factor A ISO CTD Direct Evidence: marker/mechanism CTD PMID:16356833 NCBI chr 7:38,746,393...38,762,282
Ensembl chr 7:38,746,052...38,761,038
JBrowse link
G WT1 WT1 transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:20820871 NCBI chr 2:28,411,467...28,456,007
Ensembl chr 2:28,411,794...28,456,003
JBrowse link
G ZBTB7A zinc finger and BTB domain containing 7A ISO CTD Direct Evidence: marker/mechanism CTD PMID:25875864 NCBI chr 2:74,678,293...74,699,347
Ensembl chr 2:74,681,192...74,695,975
JBrowse link
glioblastoma proneural subtype term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RB1 RB transcriptional corepressor 1 ISO RNA:decreased expression:brain: RGD PMID:22157621 RGD:13782062 NCBI chr11:19,186,754...19,317,642
Ensembl chr11:19,186,759...19,317,690
JBrowse link
gliosarcoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CCL2 chemokine (C-C motif) ligand 2 severity ISO mouse gene in a rat model RGD PMID:7489565 RGD:11526112 NCBI chr12:40,798,109...40,800,013
Ensembl chr12:40,798,109...40,800,028
JBrowse link
G CYP2B6B cytochrome P450 family 2 subfamily B member 6B ISO CTD Direct Evidence: therapeutic CTD PMID:9766669 PMID:11389073 NCBI chr 6:49,158,175...49,173,872
Ensembl chr 6:49,110,812...49,178,413
JBrowse link
G CYP2C42 cytochrome P450 C42 ISO CTD Direct Evidence: therapeutic CTD PMID:9766669 NCBI chr14:106,666,445...106,701,809
Ensembl chr14:106,013,495...106,713,121
JBrowse link
G PLAU plasminogen activator, urokinase severity ISO mouse gene in rat model RGD PMID:20606645 RGD:7241591 NCBI chr14:76,629,313...76,635,173
Ensembl chr14:76,629,299...76,635,172
JBrowse link
G POR P450 (cytochrome) oxidoreductase ISO CTD Direct Evidence: therapeutic CTD PMID:9766669 NCBI chr 3:10,212,734...10,272,184
Ensembl chr 3:10,212,735...10,281,833
JBrowse link
G PTGS1 prostaglandin-endoperoxide synthase 1 ISO protein:increased expression:microglia, macrophage, RGD PMID:10229132 RGD:5688250 NCBI chr 1:262,456,106...262,482,159
Ensembl chr 1:262,456,155...262,483,035
JBrowse link
G PTGS2 prostaglandin-endoperoxide synthase 2 ISO protein:increased expression:endothelial cell RGD PMID:10229132 RGD:5688250 NCBI chr 9:127,850,164...127,858,866
Ensembl chr 9:127,850,013...127,858,884
JBrowse link
G VEGFA vascular endothelial growth factor A ISO CTD Direct Evidence: marker/mechanism CTD PMID:16533777 NCBI chr 7:38,746,393...38,762,282
Ensembl chr 7:38,746,052...38,761,038
JBrowse link
high grade glioma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACVR1 activin A receptor type 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Brainstem glioma
CTD
ClinVar
PMID:818090 PMID:7068725 PMID:19085907 PMID:19330033 PMID:22977237 More... NCBI chr15:64,749,478...64,891,653
Ensembl chr15:64,748,761...64,892,153
JBrowse link
G ADGRA2 adhesion G protein-coupled receptor A2 ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr15:48,572,953...48,611,034
Ensembl chr15:48,573,166...48,610,668
JBrowse link
G AKT2 AKT serine/threonine kinase 2 ISO protein:increased expression:cytoplasm (human) RGD PMID:19330838 RGD:2313297 NCBI chr 6:48,555,785...48,620,472
Ensembl chr 6:48,555,789...48,587,919
JBrowse link
G ANGPT2 angiopoietin 2 ISO protein:increased expression:brain (rat) RGD PMID:18615861 RGD:2314189 NCBI chr15:37,544,177...37,600,925
Ensembl chr15:37,544,707...37,599,041
JBrowse link
G APOD apolipoprotein D ISO CTD Direct Evidence: marker/mechanism CTD PMID:16865689 NCBI chr13:132,514,546...132,562,594
Ensembl chr13:132,514,949...132,562,599
JBrowse link
G ARAF A-Raf proto-oncogene, serine/threonine kinase disease_progression ISO RGD PMID:27852048 RGD:13702476 NCBI chr  X:42,078,202...42,090,250
Ensembl chr  X:42,078,195...42,090,247
JBrowse link
G AREG amphiregulin ISO RGD PMID:8621257 RGD:2292668 NCBI chr 8:70,417,935...70,428,106
Ensembl chr 8:70,417,923...70,428,102
JBrowse link
G ARHGAP32 Rho GTPase activating protein 32 ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr 9:55,903,365...56,177,639
Ensembl chr 9:55,906,945...56,177,551
JBrowse link
G ARID1B AT-rich interaction domain 1B ISO ClinVar Annotator: match by term: Astrocytoma ClinVar PMID:25741868 NCBI chr 1:9,791,627...10,227,381
Ensembl chr 1:9,791,629...10,227,947
JBrowse link
G ARL2 ADP ribosylation factor like GTPase 2 ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr 2:7,157,963...7,167,024
Ensembl chr 2:7,157,963...7,167,329
JBrowse link
G ASPM assembly factor for spindle microtubules disease_progression ISO mRNA:increased expression:brain: RGD PMID:20142996 RGD:13442488 NCBI chr10:19,971,516...20,039,680
Ensembl chr10:19,975,189...20,039,623
JBrowse link
G ATG2A autophagy related 2A ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr 2:7,261,819...7,282,614
Ensembl chr 2:7,261,756...7,282,608
JBrowse link
G ATG7 autophagy related 7 treatment ISO RGD PMID:25542083 RGD:11557994 NCBI chr13:67,301,756...67,699,141
Ensembl chr13:67,417,938...67,707,660
JBrowse link
G ATM ATM serine/threonine kinase ISO ClinVar Annotator: match by term: Malignant glioma ClinVar PMID:8659541 PMID:8808599 PMID:9000145 PMID:9463314 PMID:10330348 More... NCBI chr 9:36,620,656...36,759,555
Ensembl chr 9:36,620,658...36,759,554
JBrowse link
G ATP1B2 ATPase Na+/K+ transporting subunit beta 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16865689 NCBI chr12:52,925,697...52,932,638
Ensembl chr12:52,925,693...52,932,637
JBrowse link
G ATRX ATRX chromatin remodeler ISO DNA:mutations: :multiple
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:23104868 PMID:23583981 PMID:24705251 RGD:11040587 NCBI chr  X:61,584,028...61,872,341
Ensembl chr  X:61,584,848...61,872,288
JBrowse link
G BAD BCL2 associated agonist of cell death ISO protein:increased phosphorylation:brain
ClinVar Annotator: match by term: Brainstem glioma
RGD
ClinVar
PMID:16944316 RGD:2292675 NCBI chr 2:7,831,192...7,842,864
Ensembl chr 2:7,830,920...7,842,863
JBrowse link
G BANP BTG3 associated nuclear protein ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr 6:1,421,460...1,495,484
Ensembl chr 6:1,421,461...1,495,487
JBrowse link
G BARHL1 BarH like homeobox 1 ISO protein:increased expression:brain: RGD PMID:28956815 RGD:14390165 NCBI chr 1:272,373,125...272,380,223
Ensembl chr 1:272,373,571...272,381,441
JBrowse link
G BATF2 basic leucine zipper ATF-like transcription factor 2 ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr 2:7,180,019...7,188,996
Ensembl chr 2:7,180,258...7,188,990
JBrowse link
G BCAN brevican severity ISO protein:increased expression:brain: RGD PMID:11585735 PMID:12799382 PMID:16061654 PMID:23253190 RGD:14392782 RGD:14392783 RGD:14392797 RGD:14392804 NCBI chr 4:93,432,331...93,450,895
Ensembl chr 4:93,432,335...93,450,827
JBrowse link
G BDKRB2 bradykinin receptor B2 ISO mRNA:increased expression:brain RGD PMID:20080302 RGD:4891047 NCBI chr 7:117,438,622...117,472,005
Ensembl chr 7:117,438,543...117,472,003
JBrowse link
G BIRC5 baculoviral IAP repeat containing 5 ISO protein:increased expression:brain RGD PMID:17701349 RGD:2293131 NCBI chr12:3,747,276...3,755,214
Ensembl chr12:3,747,237...3,755,188
JBrowse link
G BMI1 BMI1 proto-oncogene, polycomb ring finger ISO CTD Direct Evidence: marker/mechanism CTD PMID:23383216 NCBI chr10:52,586,089...52,596,154
Ensembl chr10:52,586,280...52,596,376
JBrowse link
G BRAF B-Raf proto-oncogene, serine/threonine kinase ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Brainstem glioma
CTD
ClinVar
PMID:12068308 PMID:12198537 PMID:12447372 PMID:12460918 PMID:12460919 More... NCBI chr18:8,957,963...9,132,558
Ensembl chr18:8,957,959...9,132,553
JBrowse link
G BRCA2 BRCA2 DNA repair associated ISO OMIM NCBI chr11:8,805,950...8,858,128 JBrowse link
G BRD7 bromodomain containing 7 ISO protein:increased expression:brain: RGD PMID:24404152 RGD:9586441 NCBI chr 6:34,478,008...34,519,622
Ensembl chr 6:34,478,012...34,519,664
JBrowse link
G C3 complement C3 treatment ISO RGD PMID:21678475 RGD:7401275 NCBI chr 2:72,431,470...72,471,622
Ensembl chr 2:72,431,499...72,528,112
JBrowse link
G C9H11orf65 chromosome 9 C11orf65 homolog ISO ClinVar Annotator: match by term: Malignant glioma ClinVar PMID:8659541 PMID:8808599 PMID:9000145 PMID:9463314 PMID:10330348 More... NCBI chr 9:36,768,819...36,855,318
Ensembl chr 9:36,769,342...36,849,575
JBrowse link
G CACNG2 calcium voltage-gated channel auxiliary subunit gamma 2 ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr 5:11,067,016...11,185,480
Ensembl chr 5:11,067,692...11,185,505
JBrowse link
G CAMK2A calcium/calmodulin dependent protein kinase II alpha disease_progression ISO RGD PMID:29393370 RGD:13702478 NCBI chr 2:151,248,356...151,353,907
Ensembl chr 2:151,248,356...151,308,658
JBrowse link
G CAMK2B calcium/calmodulin dependent protein kinase II beta disease_progression ISO RGD PMID:15750623 RGD:13702479 NCBI chr18:50,862,225...50,956,263
Ensembl chr18:50,861,466...50,957,945
JBrowse link
G CAMKK2 calcium/calmodulin dependent protein kinase kinase 2 disease_progression ISO RGD PMID:27012733 RGD:13674178 NCBI chr14:31,307,418...31,366,504
Ensembl chr14:31,312,049...31,366,503
JBrowse link
G CAPN1 calpain 1 ISO ClinVar Annotator: match by term: Brainstem glioma ClinVar NCBI chr 2:6,997,513...7,024,410
Ensembl chr 2:6,997,516...7,081,432
JBrowse link
G CAT catalase ISO CTD Direct Evidence: marker/mechanism CTD PMID:21138464 NCBI chr 2:26,493,664...26,533,881
Ensembl chr 2:26,487,653...26,581,452
JBrowse link
G CATSPERZ catsper channel auxiliary subunit zeta ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr 2:7,813,296...7,817,327 JBrowse link
G CAV1 caveolin 1 ISO RGD PMID:22528460 RGD:6784517 NCBI chr18:29,648,120...29,682,451
Ensembl chr18:29,649,992...29,682,465
JBrowse link
G CAV2 caveolin 2 ISO RGD PMID:22528460 RGD:6784517 NCBI chr18:29,699,012...29,707,277
Ensembl chr18:29,699,020...29,707,277
JBrowse link
G CCDC88B coiled-coil domain containing 88B ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr 2:7,767,924...7,784,625 JBrowse link
G CCND1 cyclin D1 susceptibility
disease_progression
ISO RGD PMID:21844184 PMID:22304571 RGD:13681930 RGD:13702091 NCBI chr 2:3,621,242...3,633,380
Ensembl chr 2:3,621,246...3,633,296
JBrowse link
G CCR4 C-C motif chemokine receptor 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17522861 NCBI chr13:18,860,596...18,865,987
Ensembl chr13:18,860,730...18,865,985
JBrowse link
G CD40 CD40 molecule treatment ISO RGD PMID:24878890 RGD:11352275 NCBI chr17:48,286,116...48,298,188
Ensembl chr17:48,286,029...48,298,528
JBrowse link
G CD80 CD80 molecule ISO RGD PMID:10078962 RGD:727266 NCBI chr13:140,693,312...140,730,541
Ensembl chr13:140,693,382...140,728,980
JBrowse link
G CDC42BPG CDC42 binding protein kinase gamma ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr 2:7,328,231...7,347,551
Ensembl chr 2:7,328,233...7,347,451
JBrowse link
G CDC42EP2 CDC42 effector protein 2 ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr 2:6,897,497...6,904,040
Ensembl chr 2:6,895,817...6,904,040
JBrowse link
G CDCA5 cell division cycle associated 5 ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr 2:7,103,648...7,112,772
Ensembl chr 2:7,102,982...7,113,202
JBrowse link
G CDK4 cyclin dependent kinase 4 disease_progression ISO RGD PMID:21844184 PMID:23761023 RGD:13702090 RGD:13702091 NCBI chr 5:23,039,206...23,041,959
Ensembl chr 5:23,038,889...23,042,061
JBrowse link
G CDK6 cyclin dependent kinase 6 severity ISO DNA:amplification: RGD PMID:9102208 PMID:22736304 RGD:13702093 RGD:13702094 NCBI chr 9:72,510,858...72,765,631
Ensembl chr 9:72,518,101...72,764,129
JBrowse link
G CDKN1A cyclin dependent kinase inhibitor 1A severity
treatment
ISO DNA:hypermethylation:promoter: RGD PMID:9144534 PMID:18791688 PMID:20844987 RGD:13702125 RGD:13702128 RGD:13702129 NCBI chr 7:32,354,776...32,363,771
Ensembl chr 7:32,359,455...32,363,761
JBrowse link
G CDKN2B cyclin dependent kinase inhibitor 2B ISO CTD Direct Evidence: marker/mechanism CTD PMID:19578366 PMID:19578367 NCBI chr 1:200,666,250...200,770,880
Ensembl chr 1:200,761,004...200,766,056
JBrowse link
G CHAF1A chromatin assembly factor 1 subunit A susceptibility ISO DNA:SNP:intron:rs243356(human) RGD PMID:18048407 RGD:9587459 NCBI chr 2:74,380,706...74,411,875
Ensembl chr 2:74,380,708...74,411,825
JBrowse link
G CHAF1B chromatin assembly factor 1 subunit B disease_progression ISO protein:increased expression:brain: RGD PMID:24039914 RGD:9587472 NCBI chr13:200,048,096...200,074,902
Ensembl chr13:200,048,131...200,072,556
JBrowse link
G CHEK2 checkpoint kinase 2 ISO ClinVar Annotator: match by term: Malignant glioma ClinVar PMID:10617473 PMID:11053450 PMID:11479205 PMID:11719428 PMID:11967536 More... NCBI chr14:45,699,833...45,967,350
Ensembl chr14:45,926,613...45,967,296
JBrowse link
G CHI3L1 chitinase 3 like 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20506295 NCBI chr 9:113,885,541...113,895,033
Ensembl chr 9:113,885,542...113,895,510
JBrowse link
G CLCN2 chloride voltage-gated channel 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12843258 NCBI chr13:122,234,731...122,249,889
Ensembl chr13:122,234,736...122,249,867
JBrowse link
G CLCN3 chloride voltage-gated channel 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12843258 NCBI chr14:20,037,628...20,127,160
Ensembl chr14:20,026,929...20,127,155
JBrowse link
G CLCN5 chloride voltage-gated channel 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12843258 NCBI chr  X:43,779,016...43,809,472
Ensembl chr  X:43,613,756...43,813,140
JBrowse link
G CNTN2 contactin 2 severity ISO mRNA, protein:increased expression:brain (human) RGD PMID:11280781 RGD:734799 NCBI chr 9:65,737,488...65,776,412
Ensembl chr 9:65,737,719...65,776,308
JBrowse link
G COX8A cytochrome c oxidase subunit 8A ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr 2:8,101,609...8,103,313
Ensembl chr 2:8,101,614...8,103,298
JBrowse link
G CSF1 colony stimulating factor 1 ISO RGD PMID:15728459 RGD:2293641 NCBI chr 4:110,178,466...110,198,232
Ensembl chr 4:110,178,478...110,197,901
JBrowse link
G CTSB cathepsin B ISO RGD PMID:17287256 RGD:2315520 NCBI chr14:15,014,139...15,035,081
Ensembl chr14:15,011,711...15,034,737
JBrowse link
G CXCR3 C-X-C motif chemokine receptor 3 ISO RGD PMID:16434036 RGD:5135509 NCBI chr  X:57,592,032...57,595,706
Ensembl chr  X:57,592,038...57,595,692
JBrowse link
G CYP2E1 cytochrome P450 family 2 subfamily E member 1 ISO DNA:snp:promoter:c.-1053C>T (human) RGD PMID:12540498 RGD:1358568 NCBI chr14:141,690,737...141,703,078
Ensembl chr14:141,690,426...141,736,818
JBrowse link
G DCN decorin disease_progression ISO RGD PMID:15475879 RGD:2311425 NCBI chr 5:91,678,601...91,713,925
Ensembl chr 5:91,678,608...91,714,235
JBrowse link
G DCX doublecortin treatment
disease_progression
ISO RGD PMID:17178868 PMID:19681167 PMID:21477071 RGD:12904748 RGD:12904754 RGD:12904761 NCBI chr  X:91,317,671...91,644,572
Ensembl chr  X:91,323,768...91,644,567
JBrowse link
G DEPDC5 DEP domain containing 5, GATOR1 subcomplex subunit ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr14:48,421,788...48,523,530 JBrowse link
G DLK1 delta like non-canonical Notch ligand 1 ISO RGD PMID:16288219 RGD:1625600 NCBI chr 7:121,565,844...121,577,493
Ensembl chr 7:121,565,854...121,576,654
JBrowse link
G DMXL1 Dmx like 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16865689 NCBI chr 2:123,003,077...123,142,865
Ensembl chr 2:123,003,086...123,141,061
JBrowse link
G DNAJC4 DnaJ heat shock protein family (Hsp40) member C4 ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr 2:7,876,587...7,880,908 JBrowse link
G DPF2 double PHD fingers 2 ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr 2:6,870,331...6,886,548
Ensembl chr 2:6,870,331...6,886,467
JBrowse link
G DUSP29 dual specificity phosphatase 29 ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr14:77,602,871...77,643,109
Ensembl chr14:77,602,870...77,643,114
JBrowse link
G E2F1 E2F transcription factor 1 severity ISO RGD PMID:28042322 RGD:13702468 NCBI chr17:37,178,587...37,190,118
Ensembl chr17:37,178,598...37,189,841
JBrowse link
G E2F3 E2F transcription factor 3 disease_progression ISO RGD PMID:28337965 RGD:13702470 NCBI chr 7:15,793,519...15,870,213
Ensembl chr 7:15,793,995...15,870,205
JBrowse link
G EFEMP1 EGF containing fibulin extracellular matrix protein 1 ISO protein:increased expression:brain: RGD PMID:19887559 RGD:10401656 NCBI chr 3:85,407,677...85,473,251
Ensembl chr 3:85,268,311...85,473,254
JBrowse link
G EFL1 elongation factor like GTPase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25015090 NCBI chr 7:50,839,725...50,977,024
Ensembl chr 7:50,839,725...50,977,070
JBrowse link
G EGF epidermal growth factor susceptibility ISO DNA:polymorphism:promoter:+61A>G(human)
DNA:polymorphism:promoter:GG genotypes were associated with increased risk.
RGD PMID:17473192 PMID:22106858 RGD:13702473 RGD:13702474 NCBI chr 8:112,235,607...112,330,062
Ensembl chr 8:112,234,365...112,330,046
JBrowse link
G EGFR epidermal growth factor receptor treatment ISO protein:alternative form:tumor (human)
ClinVar Annotator: match by term: Brainstem glioma
RGD
ClinVar
PMID:7606735 PMID:10616092 PMID:17177598 PMID:26619011 RGD:38599219 RGD:5131512 NCBI chr 9:139,302,410...139,474,632
Ensembl chr 9:139,300,022...139,478,882
JBrowse link
G EHBP1L1 EH domain binding protein 1 like 1 ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr 2:6,662,460...6,678,721
Ensembl chr 2:6,662,463...6,679,028
JBrowse link
G EHD1 EH domain containing 1 ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr 2:7,299,295...7,321,580
Ensembl chr 2:7,298,259...7,321,577
JBrowse link
G ENTPD2 ectonucleoside triphosphate diphosphohydrolase 2 ISO RGD PMID:19558578 RGD:9685528
G EPHA5 EPH receptor A5 ISO ClinVar Annotator: match by term: Astrocytoma ClinVar PMID:25741868 NCBI chr 8:63,285,006...63,604,734
Ensembl chr 8:63,285,489...63,604,734
JBrowse link
G EPO erythropoietin ISO RGD PMID:21749867 RGD:10400910 NCBI chr 3:8,620,508...8,622,936
Ensembl chr 3:8,620,508...8,622,936
JBrowse link
G EPOR erythropoietin receptor ISO RGD PMID:21749867 RGD:10400910 NCBI chr 2:70,063,601...70,068,821
Ensembl chr 2:70,063,515...70,068,821
JBrowse link
G ERBB2 erb-b2 receptor tyrosine kinase 2 susceptibility ISO ClinVar Annotator: match by term: Glioma susceptibility 1
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:15457249 NCBI chr12:22,591,621...22,621,384
Ensembl chr12:22,590,725...22,621,351
JBrowse link
G ERCC1 ERCC excision repair 1, endonuclease non-catalytic subunit susceptibility ISO DNA:snp:3'utr:c.8092C>A (human) (rs3212986) RGD PMID:25867436 RGD:13207318 NCBI chr 6:51,783,537...51,808,898 JBrowse link
G ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit susceptibility ISO RGD PMID:11319176 RGD:10401082 NCBI chr 6:51,734,318...51,757,508
Ensembl chr 6:51,734,319...51,779,624
JBrowse link
G ESRRA estrogen related receptor alpha ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr 2:7,803,504...7,812,868
Ensembl chr 2:7,803,510...7,813,836
JBrowse link
G F2 coagulation factor II, thrombin treatment ISO RGD PMID:15975137 RGD:1578509 NCBI chr 2:15,793,257...15,819,151
Ensembl chr 2:15,791,451...15,819,138
JBrowse link
G FAM107A family with sequence similarity 107 member A ISO CTD Direct Evidence: marker/mechanism CTD PMID:16865689 NCBI chr13:40,276,896...40,369,708 JBrowse link
G FAM89B family with sequence similarity 89 member B ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr 2:6,680,832...6,682,506
Ensembl chr 2:6,680,835...6,684,494
JBrowse link
G FAS Fas cell surface death receptor severity ISO mouse gene in a rat model RGD PMID:11440439 RGD:8663460 NCBI chr14:100,927,305...100,954,781 JBrowse link
G FAU FAU ubiquitin like and ribosomal protein S30 fusion ISO ClinVar Annotator: match by term: Brainstem glioma ClinVar NCBI chr 2:7,070,903...7,072,811
Ensembl chr 2:7,059,462...7,072,809
JBrowse link
G FBXW7 F-box and WD repeat domain containing 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18931460 NCBI chr 8:76,482,027...76,699,354
Ensembl chr 8:76,482,022...76,699,351
JBrowse link
G FERMT3 FERM domain containing kindlin 3 ISO ClinVar Annotator: match by term: Brainstem glioma ClinVar NCBI chr 2:7,886,781...7,909,892
Ensembl chr 2:7,886,784...7,915,610
JBrowse link
G FGF2 fibroblast growth factor 2 ISO CTD Direct Evidence: therapeutic CTD PMID:10673511 NCBI chr 8:101,278,877...101,344,084
Ensembl chr 8:101,278,878...101,343,916
JBrowse link
G FGFR1 fibroblast growth factor receptor 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Rosette-forming glioneuronal tumor
ClinVar Annotator: match by term: Astrocytoma
ClinVar Annotator: match by term: Brainstem glioma
CTD
ClinVar
PMID:10766980 PMID:23583981 PMID:23819449 PMID:25705862 PMID:25741868 More... NCBI chr15:48,053,895...48,106,634
Ensembl chr15:48,053,340...48,106,746
JBrowse link
G FKBP2 FKBP prolyl isomerase 2 ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr 2:7,868,229...7,871,184
Ensembl chr 2:7,868,230...7,871,097
JBrowse link
G FLRT1 fibronectin leucine rich transmembrane protein 1 ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr 2:7,971,782...8,052,572
Ensembl chr 2:7,976,275...8,052,352
JBrowse link
G FRMD8 FERM domain containing 8 ISO ClinVar Annotator: match by term: Brainstem glioma ClinVar NCBI chr 2:6,822,964...6,843,941
Ensembl chr 2:6,822,966...6,843,978
JBrowse link
G FTH1 ferritin heavy chain 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21385903 NCBI chr 2:9,535,051...9,537,979 JBrowse link
G GDNF glial cell derived neurotrophic factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:19138852 NCBI chr16:22,936,602...22,965,929
Ensembl chr16:22,936,601...22,965,886
JBrowse link
G GJA1 gap junction protein alpha 1 ISO RGD PMID:22808518 RGD:7207264 NCBI chr 1:40,988,818...41,002,129
Ensembl chr 1:40,988,515...41,002,137
JBrowse link
G GLB1 galactosidase beta 1 ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr13:18,878,407...18,978,999
Ensembl chr13:18,878,612...18,953,146
JBrowse link
G GON4L gon-4 like ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr 4:94,161,887...94,248,785 JBrowse link
G GPHA2 glycoprotein hormone subunit alpha 2 ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr 2:7,245,287...7,248,268
Ensembl chr 2:7,247,231...7,247,886
JBrowse link
G GPR137 G protein-coupled receptor 137 ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr 2:7,826,454...7,831,010
Ensembl chr 2:7,826,454...7,830,969
JBrowse link
G GSTM3 glutathione S-transferase mu 3 ISO DNA: deletion: intron 6 RGD PMID:16598069 RGD:5688743 NCBI chr 4:110,330,027...110,332,957
Ensembl chr 4:110,330,028...110,332,962
JBrowse link
G H3-3A H3 histone, family 3A ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Brainstem glioma
CTD
ClinVar
PMID:22286216 PMID:23583981 PMID:26619011 NCBI chr10:13,939,938...13,947,976
Ensembl chr10:13,939,594...13,948,000
JBrowse link
G HDAC3 histone deacetylase 3 disease_progression ISO mRNA,protein:increased expression:brain:
ClinVar Annotator: match by term: Ependymoma
RGD
ClinVar
PMID:23685192 RGD:9590201 NCBI chr 2:143,273,188...143,287,421
Ensembl chr 2:143,273,191...143,287,387
JBrowse link
G HELLS helicase, lymphoid specific severity ISO RGD PMID:28042322 RGD:13702468 NCBI chr14:105,923,727...105,967,003
Ensembl chr14:105,923,552...105,966,998
JBrowse link
G HGF hepatocyte growth factor disease_progression ISO protein:increased expression:brain: RGD PMID:12115353 RGD:8548633 NCBI chr 9:98,437,771...98,513,573
Ensembl chr 9:98,437,087...98,513,156
JBrowse link
G HMGB1 high mobility group box 1 treatment ISO RGD PMID:10830965 RGD:10402059 NCBI chr11:7,195,556...7,321,071 JBrowse link
G HMGN5 high mobility group nucleosome binding domain 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22109888 NCBI chr  X:64,541,310...64,617,345 JBrowse link
G HRAS HRas proto-oncogene, GTPase ISO CTD Direct Evidence: marker/mechanism CTD PMID:30619488 NCBI chr 2:299,662...302,539
Ensembl chr 2:299,660...302,501
JBrowse link
G HSPA5 heat shock protein family A (Hsp70) member 5 ISO protein:increased expression RGD PMID:21112319 RGD:5685704 NCBI chr 1:265,930,044...265,934,959
Ensembl chr 1:265,930,045...265,934,904
JBrowse link
G IDH1 isocitrate dehydrogenase (NADP(+)) 1 susceptibility ISO ClinVar Annotator: match by term: Brainstem glioma
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:18772396 PMID:19657110 PMID:19798509 PMID:19818334 PMID:19901110 More... NCBI chr15:111,341,153...111,362,330
Ensembl chr15:111,341,152...111,362,280
JBrowse link
G IDH2 isocitrate dehydrogenase (NADP(+)) 2 ISO ClinVar Annotator: match by term: Brainstem glioma ClinVar PMID:20946881 PMID:21250968 PMID:21596855 PMID:21997850 PMID:22160010 More... NCBI chr 7:55,654,298...55,675,571
Ensembl chr 7:55,651,606...55,681,426
JBrowse link
G IFNG interferon gamma ISO RGD PMID:10078962 RGD:727266 NCBI chr 5:32,477,906...32,482,670
Ensembl chr 5:32,477,848...32,482,752
JBrowse link
G IGF1 insulin like growth factor 1 severity ISO protein:increased expression:serum: RGD PMID:21788435 RGD:8548833 NCBI chr 5:81,762,027...81,909,253
Ensembl chr 5:81,775,970...81,848,037
JBrowse link
G IGF1R insulin like growth factor 1 receptor ISO DNA: SNP: : rs2272037 or rs2016347 RGD PMID:18562769 RGD:5686434 NCBI chr 1:137,383,623...137,691,038
Ensembl chr 1:137,387,925...137,690,666
JBrowse link
G IGFBP3 insulin like growth factor binding protein 3 severity ISO protein:increased expression:serum: RGD PMID:21788435 RGD:8548833 NCBI chr18:50,002,921...50,009,425 JBrowse link
G IL10 interleukin 10 susceptibility ISO DNA:SNP: :rs1800896 (human) RGD PMID:20406895 RGD:4140470 NCBI chr 9:67,400,727...67,405,941
Ensembl chr 9:67,400,727...67,405,711
JBrowse link
G IL12A interleukin 12A ISO CTD Direct Evidence: therapeutic CTD PMID:18176109 NCBI chr13:99,733,394...99,741,078
Ensembl chr13:99,733,394...99,741,078
JBrowse link
G IL12B interleukin 12B ISO CTD Direct Evidence: therapeutic CTD PMID:18176109 NCBI chr16:64,143,268...64,158,929
Ensembl chr16:64,147,247...64,158,952
JBrowse link
G IL18 interleukin 18 treatment ISO RGD PMID:18725309 RGD:8657054 NCBI chr 9:39,839,959...39,861,258
Ensembl chr 9:39,834,966...39,873,300
JBrowse link
G IL2 interleukin 2 treatment ISO RGD PMID:12864971 RGD:8663439 NCBI chr 8:101,640,938...101,645,683
Ensembl chr 8:101,640,944...101,645,609
JBrowse link
G IL4 interleukin 4 treatment ISO RGD PMID:9973213 RGD:8142389 NCBI chr 2:134,986,817...134,994,365
Ensembl chr 2:134,986,817...134,994,365
JBrowse link
G IL7 interleukin 7 ISO RGD PMID:10078962 RGD:727266 NCBI chr 4:57,677,895...57,744,713
Ensembl chr 4:57,685,069...57,753,797
JBrowse link
G KAT6B lysine acetyltransferase 6B ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr14:77,390,790...77,597,674
Ensembl chr14:77,375,758...77,597,674
JBrowse link
G KCNK4 potassium two pore domain channel subfamily K member 4 ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr 2:7,817,062...7,824,390
Ensembl chr 2:7,817,342...7,823,927
JBrowse link
G KCNK7 potassium two pore domain channel subfamily K member 7 ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr 2:6,657,841...6,662,445
Ensembl chr 2:6,659,253...6,662,288
JBrowse link
G KDM5B lysine demethylase 5B disease_progression ISO RGD PMID:25450384 RGD:13702126 NCBI chr10:24,739,115...24,831,537
Ensembl chr10:24,736,834...24,831,447
JBrowse link
G KDR kinase insert domain receptor disease_progression
severity
ISO RGD PMID:10506722 PMID:20501615 RGD:5684393 RGD:5684425 NCBI chr 8:41,809,116...41,856,379
Ensembl chr 8:41,809,116...41,856,339
JBrowse link
G KLHL21 kelch like family member 21 ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr 6:67,420,618...67,434,812
Ensembl chr 6:67,420,618...67,434,814
JBrowse link
G KMT2D lysine methyltransferase 2D ISO ClinVar Annotator: match by term: Astrocytoma ClinVar PMID:25741868 NCBI chr 5:15,049,827...15,091,622 JBrowse link
G KRAS KRAS proto-oncogene, GTPase severity ISO RGD PMID:19435821 PMID:22207524 RGD:13702477 RGD:13702860 NCBI chr 5:48,508,774...48,546,260
Ensembl chr 5:48,508,790...48,549,346
JBrowse link
G KREMEN2 kringle containing transmembrane protein 2 ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr 3:39,214,251...39,218,805
Ensembl chr 3:39,214,248...39,218,776
JBrowse link
G LATS1 large tumor suppressor kinase 1 ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr 1:16,274,955...16,320,980
Ensembl chr 1:16,274,970...16,320,619
JBrowse link
G LETM1 leucine zipper and EF-hand containing transmembrane protein 1 ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr 8:898,178...926,500
Ensembl chr 8:898,178...926,607
JBrowse link
G LGALS3 galectin 3 disease_progression ISO RGD PMID:23179497 RGD:9685225 NCBI chr 1:184,478,639...184,496,155
Ensembl chr 1:184,478,710...184,497,951
JBrowse link
G LIG4 DNA ligase 4 ISO DNA:SNP: :rs1805388 (human) RGD PMID:23663450 RGD:13204718 NCBI chr11:75,537,027...75,547,711
Ensembl chr11:75,537,032...75,547,691
JBrowse link
G LOC100511937 phosphatidylinositol 3-kinase regulatory subunit gamma treatment ISO RGD PMID:28260020 RGD:13782053 NCBI chr 6:165,268,260...165,402,668
Ensembl chr 6:165,267,802...165,402,663
JBrowse link
G LOC100513601 patr class I histocompatibility antigen, A-126 alpha chain-like ISO CTD Direct Evidence: marker/mechanism CTD PMID:14511464 NCBI chr 7:22,888,616...22,920,154 JBrowse link
G LOC100739508 glutathione S-transferase P-like susceptibility ISO CTD Direct Evidence: marker/mechanism
DNA:polymorphism:exon:p.I105V (rs1695) (human)
CTD
RGD
PMID:15006924 PMID:16899598 RGD:5490124 NCBI chr 2:5,005,498...5,009,247 JBrowse link
G LTA lymphotoxin alpha treatment ISO RGD PMID:1883913 RGD:1625042 NCBI chr 7:23,696,387...23,698,280
Ensembl chr 7:23,696,039...23,698,302
JBrowse link
G LTBP3 latent transforming growth factor beta binding protein 3 ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr 2:6,701,455...6,720,191
Ensembl chr 2:6,701,340...6,720,172
JBrowse link
G MACROD1 mono-ADP ribosylhydrolase 1 ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr 2:7,939,125...8,087,656
Ensembl chr 2:7,939,044...8,087,697
JBrowse link
G MAJIN membrane anchored junction protein ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr 2:7,209,376...7,244,400 JBrowse link
G MAP2K1 mitogen-activated protein kinase kinase 1 ISO RGD PMID:21057530 RGD:13702863 NCBI chr 1:164,381,892...164,469,313
Ensembl chr 1:164,381,845...164,471,226
JBrowse link
G MAP3K11 mitogen-activated protein kinase kinase kinase 11 ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr 2:6,640,061...6,657,717
Ensembl chr 2:6,640,056...6,657,713
JBrowse link
G MAP4K2 mitogen-activated protein kinase kinase kinase kinase 2 ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr 2:7,365,184...7,378,999
Ensembl chr 2:7,365,231...7,378,998
JBrowse link
G MAP4K3 mitogen-activated protein kinase kinase kinase kinase 3 ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr 3:100,887,148...101,084,667
Ensembl chr 3:100,886,834...101,084,678
JBrowse link
G MAPK3 mitogen-activated protein kinase 3 ISO RGD PMID:27256374 RGD:13702865 NCBI chr 3:18,291,444...18,299,410
Ensembl chr 3:18,291,445...18,299,567
JBrowse link
G MARK2 microtubule affinity regulating kinase 2 ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr 2:8,153,870...8,216,141
Ensembl chr 2:8,155,321...8,215,706
JBrowse link
G MDK midkine ISO CTD Direct Evidence: marker/mechanism CTD PMID:21233844 NCBI chr 2:16,130,787...16,133,791
Ensembl chr 2:16,130,782...16,133,510
JBrowse link
G MEN1 menin 1 ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr 2:7,358,130...7,364,952
Ensembl chr 2:7,357,951...7,365,128
JBrowse link
G MET MET proto-oncogene, receptor tyrosine kinase ISO protein:increased expression:brain, glioma (rat) RGD PMID:18194445 RGD:2317467 NCBI chr18:29,426,044...29,541,526
Ensembl chr18:29,426,044...29,541,512
JBrowse link
G MGMT O-6-methylguanine-DNA methyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16033832 PMID:16899598 PMID:19901110 NCBI chr14:138,502,005...138,771,543
Ensembl chr14:138,499,161...138,779,938
JBrowse link
G MIR192 microRNA mir-192 ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr 2:7,285,667...7,285,746
Ensembl chr 2:7,285,667...7,285,746
JBrowse link
G MKI67 marker of proliferation Ki-67 ISO RGD PMID:22262719 RGD:6483547 NCBI chr14:137,266,622...137,296,312 JBrowse link
G MMP2 matrix metallopeptidase 2 treatment ISO RGD PMID:19292920 RGD:8657080 NCBI chr 6:30,059,247...30,087,031
Ensembl chr 6:30,058,594...30,086,982
JBrowse link
G MRPL49 mitochondrial ribosomal protein L49 ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr 2:7,066,514...7,071,812
Ensembl chr 2:7,058,088...7,071,812
JBrowse link
G MT-ND4 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr MT:11,359...12,736
Ensembl chr MT:11,359...12,736
JBrowse link
G MTOR mechanistic target of rapamycin kinase severity ISO RGD PMID:20878445 RGD:13702868 NCBI chr 6:71,286,989...71,412,913
Ensembl chr 6:71,286,989...71,412,888
JBrowse link
G MYB MYB proto-oncogene, transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:23583981 PMID:26829751 NCBI chr 1:28,819,500...28,856,222
Ensembl chr 1:28,819,503...28,857,000
JBrowse link
G MYBL1 MYB proto-oncogene like 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23583981 NCBI chr 4:68,120,078...68,159,513
Ensembl chr 4:68,119,865...68,159,513
JBrowse link
G MYLK myosin light chain kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:10232591 NCBI chr13:136,509,878...136,809,674
Ensembl chr13:136,508,808...136,809,674
JBrowse link
G NAA40 N-alpha-acetyltransferase 40, NatD catalytic subunit ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr 2:8,115,288...8,130,075
Ensembl chr 2:8,115,288...8,129,973
JBrowse link
G NAALADL1 N-acetylated alpha-linked acidic dipeptidase like 1 ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr 2:7,127,197...7,138,420
Ensembl chr 2:7,127,624...7,138,415
JBrowse link
G NADSYN1 NAD synthetase 1 susceptibility ISO RGD PMID:22740028 RGD:13703114 NCBI chr 2:2,334,793...2,372,356
Ensembl chr 2:2,334,793...2,372,355
JBrowse link
G NDRG4 NDRG family member 4 disease_progression ISO protein:decreased expression:brain RGD PMID:22399192 RGD:7247727 NCBI chr 6:20,222,876...20,265,581
Ensembl chr 6:20,223,871...20,265,577
JBrowse link
G NET1 neuroepithelial cell transforming 1 ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr10:65,428,013...65,438,346
Ensembl chr10:65,426,516...65,459,754
JBrowse link
G NF1 neurofibromin 1 disease_progression ISO CTD Direct Evidence: marker/mechanism
DNA:mutations: :
CTD
RGD
PMID:25119042 PMID:26190195 RGD:12789702 NCBI chr12:43,487,098...43,754,205
Ensembl chr12:43,489,171...43,754,176
JBrowse link
G NF2 neurofibromin 2 ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr14:46,653,869...46,726,421
Ensembl chr14:46,653,902...46,731,999
JBrowse link
G NOS3 nitric oxide synthase 3 ISO protein:increased expression:blood vessel endothelial cell RGD PMID:14672505 RGD:2292080 NCBI chr18:6,209,218...6,228,912
Ensembl chr18:6,209,156...6,228,938
JBrowse link
G NRXN2 neurexin 2 ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr 2:7,454,771...7,554,180
Ensembl chr 2:7,478,750...7,515,943
JBrowse link
G NTRK1 neurotrophic receptor tyrosine kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24705251 NCBI chr 4:93,219,509...93,237,944
Ensembl chr 4:93,219,516...93,237,930
JBrowse link
G NTRK2 neurotrophic receptor tyrosine kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24705251 NCBI chr10:30,030,050...30,429,938
Ensembl chr10:30,033,379...30,429,882
JBrowse link
G NTRK3 neurotrophic receptor tyrosine kinase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24705251 NCBI chr 1:191,535,262...191,941,675
Ensembl chr 1:191,535,300...191,925,353
JBrowse link
G NUDT22 nudix hydrolase 22 ISO ClinVar Annotator: match by term: Brainstem glioma ClinVar NCBI chr 2:7,881,056...7,883,825
Ensembl chr 2:7,880,258...7,883,945
JBrowse link
G OTUB1 OTU deubiquitinase, ubiquitin aldehyde binding 1 ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr 2:8,088,528...8,095,555
Ensembl chr 2:8,087,828...8,095,609
JBrowse link
G OTUD5 OTU deubiquitinase 5 ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr  X:43,001,491...43,029,471
Ensembl chr  X:43,000,227...43,029,465
JBrowse link
G P14ARF p14ARF protein disease_progression ISO CTD Direct Evidence: marker/mechanism
DNA:deletions
CTD
RGD
PMID:11314047 PMID:15814359 PMID:19578367 RGD:8552305 NCBI chr 1:200,774,496...200,799,149
Ensembl chr 1:200,774,496...200,798,854
JBrowse link
G PATZ1 POZ/BTB and AT hook containing zinc finger 1 ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr14:48,075,345...48,093,385
Ensembl chr14:48,075,344...48,094,136
JBrowse link
G PCMT1 protein-L-isoaspartate (D-aspartate) O-methyltransferase ISO mRNA:decreased expression:brain: RGD PMID:15857672 RGD:10448283 NCBI chr 1:16,202,859...16,249,879
Ensembl chr 1:16,198,223...16,249,531
JBrowse link
G PCNX3 pecanex 3 ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr 2:6,619,213...6,639,933
Ensembl chr 2:6,619,214...6,639,953
JBrowse link
G PDAP1 PDGFA associated protein 1 severity ISO RGD PMID:27448842 RGD:13702895 NCBI chr 3:6,342,548...6,355,213
Ensembl chr 3:6,343,831...6,355,180
JBrowse link
G PDGFA platelet derived growth factor subunit A ISO in a mouse model RGD PMID:21490965 RGD:13702894 NCBI chr 3:296,399...322,967
Ensembl chr 3:303,311...323,036
JBrowse link
G PDGFB platelet derived growth factor subunit B severity ISO RGD