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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 chr20:32,394,755...32,533,440
Ensembl chr20:32,396,165...32,533,275
JBrowse link
G PENK proenkephalin ISO mRNA:increased expression:hypothalamus: RGD PMID:11501038 RGD:10003114 NCBI chr29:7,757,543...7,763,137
Ensembl chr29:7,757,857...7,762,398
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 8:1,244,104...1,314,251
Ensembl chr 8:1,247,155...1,354,720
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 chr27:6,756,994...6,787,733
Ensembl chr27:6,756,994...6,787,733
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 chr11:52,283,680...52,339,247
Ensembl chr11:52,321,590...52,339,249
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 chr11:52,339,338...52,341,642
Ensembl chr11:52,339,339...52,341,522
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 5:28,978,385...28,986,644
Ensembl chr 5:28,978,473...28,986,648
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 chr28:36,920,679...36,939,336
Ensembl chr28:36,913,023...36,939,486
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 chr24:29,397,320...29,601,206
Ensembl chr24:29,397,306...29,601,350
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:59,772,067...60,107,016
Ensembl chr  X:59,774,585...60,106,980
JBrowse link
G KRAS KRAS proto-oncogene, GTPase ISO mRNA:decreased expression:brain RGD PMID:19179066 RGD:13702872 NCBI chr27:22,261,753...22,296,704
Ensembl chr27:22,257,941...22,293,369
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 chr 5:32,561,406...32,565,149
Ensembl chr 5:32,560,598...32,574,109
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 6:22,209,711...22,237,798
Ensembl chr 6:22,209,384...22,237,745
JBrowse link
G RNF213 ring finger protein 213 ISO ClinVar Annotator: match by term: Anaplastic ependymoma ClinVar PMID:26822237 NCBI chr 9:1,439,061...1,506,658
Ensembl chr 9:1,440,364...1,506,951
JBrowse link
G RUNX1 RUNX family transcription factor 1 ISO ClinVar Annotator: match by term: Anaplastic ependymoma ClinVar PMID:25741868 PMID:28492532 NCBI chr31:30,170,859...30,420,344
Ensembl chr31:30,170,605...30,420,839
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 1:112,081,775...112,105,093
Ensembl chr 1:112,082,265...112,105,082
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 chr11:52,191,170...52,200,769
Ensembl chr11:52,196,462...52,200,778
JBrowse link
G C11H9orf131 chromosome 11 C9orf131 homolog ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr11:51,624,571...51,629,189
Ensembl chr11:51,625,604...51,629,131
JBrowse link
G CA9 carbonic anhydrase 9 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr11:52,205,619...52,211,281
Ensembl chr11:52,205,668...52,211,267
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 chr11:52,194,412...52,196,817
Ensembl chr11:52,194,293...52,196,815
JBrowse link
G CCIN calicin ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr11:52,637,580...52,640,121 JBrowse link
G CCL19 C-C motif chemokine ligand 19 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr11:51,357,706...51,359,207
Ensembl chr11:51,340,530...51,359,365
JBrowse link
G CCL21 C-C motif chemokine ligand 21 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr11:51,375,107...51,375,790 JBrowse link
G CCL27 C-C motif chemokine ligand 27 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr11:51,334,870...51,338,752
Ensembl chr11:51,334,778...51,335,591
JBrowse link
G CD72 CD72 molecule ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr11:52,170,893...52,179,035
Ensembl chr11:52,170,893...52,178,301
JBrowse link
G CLTA clathrin light chain A ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr11:52,636,328...52,681,258
Ensembl chr11:52,615,039...52,681,270
JBrowse link
G CREB3 cAMP responsive element binding protein 3 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr11:52,260,340...52,265,085
Ensembl chr11:52,260,420...52,266,515
JBrowse link
G DNAJB5 DnaJ heat shock protein family (Hsp40) member B5 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr11:51,587,728...51,596,911
Ensembl chr11:51,587,295...51,595,839
JBrowse link
G FAM166B family with sequence similarity 166 member B ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr11:52,144,806...52,164,782
Ensembl chr11:52,144,801...52,146,823
JBrowse link
G FAM205A family with sequence similarity 205 member A ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr11:51,429,911...51,436,517
Ensembl chr11:51,430,091...51,435,019
JBrowse link
G FAM214B family with sequence similarity 214 member B ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr11:51,680,308...51,692,340
Ensembl chr11:51,681,329...51,683,969
JBrowse link
G FAM221B family with sequence similarity 221 member B ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr11:52,348,496...52,351,671
Ensembl chr11:52,348,231...52,356,719
JBrowse link
G FANCG FA complementation group G ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr11:51,652,939...51,659,766
Ensembl chr11:51,652,944...51,659,751
JBrowse link
G GALT galactose-1-phosphate uridylyltransferase ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr11:51,319,812...51,323,337
Ensembl chr11:51,319,347...51,334,802
JBrowse link
G GBA2 glucosylceramidase beta 2 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr11:52,264,959...52,277,298
Ensembl chr11:52,265,070...52,277,213
JBrowse link
G GLIPR2 GLI pathogenesis related 2 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr11:52,622,460...52,634,602
Ensembl chr11:52,615,039...52,681,270
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 chr11:52,688,295...52,731,160
Ensembl chr11:52,689,343...52,731,231
JBrowse link
G HINT2 histidine triad nucleotide binding protein 2 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr11:52,342,564...52,344,994
Ensembl chr11:52,342,567...52,344,947
JBrowse link
G HRCT1 histidine rich carboxyl terminus 1 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr11:52,420,070...52,421,097
Ensembl chr11:52,420,011...52,420,629
JBrowse link
G IL11RA interleukin 11 receptor subunit alpha ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr11:51,324,915...51,341,981 JBrowse link
G LOC111098084 uncharacterized LOC111098084 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr11:51,338,409...51,339,544 JBrowse link
G MSMP microseminoprotein, prostate associated ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr11:52,280,528...52,281,559
Ensembl chr11:52,280,528...52,281,541
JBrowse link
G NPR2 natriuretic peptide receptor 2 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr11:52,283,680...52,339,247
Ensembl chr11:52,321,590...52,339,249
JBrowse link
G OR13C11B olfactory receptor family 13 subfamily C member 11B ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr11:52,449,404...52,450,363 JBrowse link
G OR13J1 olfactory receptor family 13 subfamily J member 1 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr11:52,399,129...52,400,349
Ensembl chr11:52,399,129...52,400,067
JBrowse link
G PHF24 PHD finger protein 24 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr11:51,552,345...51,580,762
Ensembl chr11:51,569,770...51,577,059
JBrowse link
G PIGO phosphatidylinositol glycan anchor biosynthesis class O ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr11:51,661,954...51,671,169
Ensembl chr11:51,663,577...51,671,178
JBrowse link
G RECK reversion inducing cysteine rich protein with kazal motifs ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr11:52,519,303...52,607,753
Ensembl chr11:52,519,317...52,607,217
JBrowse link
G RGP1 RGP1 homolog, RAB6A GEF complex partner 1 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr11:52,276,151...52,280,482
Ensembl chr11:52,277,189...52,281,639
JBrowse link
G RUSC2 RUN and SH3 domain containing 2 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr11:52,074,234...52,144,854
Ensembl chr11:52,120,179...52,144,356
JBrowse link
G SIT1 signaling threshold regulating transmembrane adaptor 1 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr11:52,189,585...52,191,255
Ensembl chr11:52,190,215...52,191,308
JBrowse link
G SPAAR small regulatory polypeptide of amino acid response ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr11:52,424,607...52,427,288
Ensembl chr11:52,426,076...52,426,303
JBrowse link
G SPAG8 sperm associated antigen 8 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr11:52,339,338...52,341,642
Ensembl chr11:52,339,339...52,341,522
JBrowse link
G STOML2 stomatin like 2 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr11:51,675,963...51,679,313
Ensembl chr11:51,675,963...51,679,199
JBrowse link
G TESK1 testis associated actin remodelling kinase 1 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr11:52,166,049...52,170,611
Ensembl chr11:52,166,276...52,170,309
JBrowse link
G TLN1 talin 1 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr11:52,227,286...52,260,112
Ensembl chr11:52,227,611...52,259,915
JBrowse link
G TMEM8B transmembrane protein 8B ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr11:52,344,566...52,387,049
Ensembl chr11:52,355,933...52,386,466
JBrowse link
G TPM2 tropomyosin 2 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr11:52,212,372...52,219,947
Ensembl chr11:52,212,401...52,219,923
JBrowse link
G UNC13B unc-13 homolog B ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr11:51,707,968...51,941,148
Ensembl chr11:51,708,302...51,940,955
JBrowse link
G VCP valosin containing protein ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr11:51,636,986...51,651,749
Ensembl chr11:51,637,411...51,651,714
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 chr11:52,194,412...52,196,817
Ensembl chr11:52,194,293...52,196,815
JBrowse link
G POP1 POP1 homolog, ribonuclease P/MRP subunit ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr13:361,095...398,214
Ensembl chr13:361,157...396,628
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 chr13:361,095...398,214
Ensembl chr13:361,157...396,628
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 chr33:17,392,962...17,406,385
Ensembl chr33:17,393,154...17,406,338
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 susceptibility ISO DNA:deletion:intron:IVS16+1464-1751del (human) RGD PMID:22876137 RGD:7829800 NCBI chr 9:11,497,182...11,516,362
Ensembl chr 9:11,497,182...11,516,358
JBrowse link
G ADIPOQ adiponectin, C1Q and collagen domain containing ISO protein:increased expression:serum RGD PMID:21122270 RGD:5686891 NCBI chr34:19,398,310...19,410,519
Ensembl chr34:19,354,825...19,409,844
JBrowse link
G ANO6 anoctamin 6 severity ISO DNA:SNP: :rs17095830(human)
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:22138694 PMID:23308121 RGD:9684849 NCBI chr27:8,882,691...9,067,057
Ensembl chr27:8,884,062...9,066,934
JBrowse link
G ANTXR2 ANTXR cell adhesion molecule 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20062062 PMID:21743469 NCBI chr32:4,143,407...4,302,194
Ensembl chr32:4,148,310...4,302,071
JBrowse link
G ASPN asporin susceptibility ISO DNA:repeats:exon: RGD PMID:20144272 RGD:9684964 NCBI chr 1:98,881,610...98,905,641
Ensembl chr 1:98,881,690...98,904,945
JBrowse link
G CARD9 caspase recruitment domain family member 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21743469 NCBI chr 9:49,110,913...49,120,758
Ensembl chr 9:49,113,923...49,120,591
JBrowse link
G CRP C-reactive protein disease_progression ISO protein:increased expression:serum: RGD PMID:6605119 PMID:22422197 RGD:6482308 RGD:9491788 NCBI chr38:22,396,787...22,398,180
Ensembl chr38:22,396,263...22,399,166
JBrowse link
G CYP1A1 cytochrome P450 family 1 subfamily A member 1 ISO DNA:polymorphism: :4887C>A (human) RGD PMID:12880680 RGD:1581252 NCBI chr30:37,793,277...37,799,535
Ensembl chr30:37,793,508...37,796,866
JBrowse link
G DLA-64 MHC class I DLA-64 no_association
susceptibility
ISO DNA:polymorphism:cds:HLA-B2705 (human)
DNA:polymorphisms:cds:HLA-B27, HLA-B60 (human, Caucasian)
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:8053961 PMID:8733445 PMID:21743469 PMID:21927904 PMID:22138694 RGD:10755579 RGD:7364914 NCBI chr12:983,573...986,969 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 3:12,879,823...12,920,710
Ensembl chr 3:12,879,477...12,919,634
JBrowse link
G HLA-DRB1 MHC class II DLA DRB1 beta chain severity ISO DNA:polymorphisms:cds:HLA-DRB1*0801, HLA-DRB1*0804 (human) RGD PMID:19565552 RGD:5147611 NCBI chr12:2,151,409...2,164,564 JBrowse link
G IGFBP3 insulin like growth factor binding protein 3 ISO protein:decreased expression:serum RGD PMID:9851264 RGD:10402573 NCBI chr16:1,021,855...1,027,604
Ensembl chr16:1,021,972...1,026,392
JBrowse link
G IL12B interleukin 12B ISO CTD Direct Evidence: marker/mechanism CTD PMID:21743469 NCBI chr 4:51,178,637...51,194,606
Ensembl chr 4:51,183,568...51,193,228
JBrowse link
G IL17A interleukin 17A treatment ISO RGD PMID:24035250 RGD:9068448 NCBI chr12:19,854,129...19,862,521
Ensembl chr12:19,854,129...19,862,513
JBrowse link
G IL1R2 interleukin 1 receptor type 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20062062 NCBI chr10:40,967,532...41,003,659
Ensembl chr10:40,896,669...41,034,113
JBrowse link
G IL23R interleukin 23 receptor no_association ISO CTD Direct Evidence: marker/mechanism
DNA:SNPs,haplotype:multiple:
DNA:SNP: :rs11209026(human)
CTD
RGD
PMID:17952073 PMID:19522770 PMID:19877036 PMID:20062062 RGD:8549549 RGD:8549630 NCBI chr 5:43,307,422...43,369,806
Ensembl chr 5:43,308,982...43,368,474
JBrowse link
G IL6 interleukin 6 ISO protein:increased expression:serum: RGD PMID:26339141 RGD:12792209 NCBI chr14:36,474,268...36,478,519
Ensembl chr14:36,473,394...36,478,519
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:121,853,340...121,862,582
Ensembl chr  X:121,819,432...121,862,576
JBrowse link
G JAK2 Janus kinase 2 susceptibility ISO DNA:SNPs, haplotype:introns: (rs1536798, rs10119004, rs7857730) (human) RGD PMID:20627814 RGD:6483025 NCBI chr 1:93,321,055...93,438,898
Ensembl chr 1:93,142,635...93,435,997
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 chr27:42,364,606...42,447,839
Ensembl chr27:42,360,456...42,447,821
JBrowse link
G LOC478984 low affinity immunoglobulin gamma Fc region receptor III severity ISO protein:decreased expression:polymorphonuclear leucocyte RGD PMID:8453794 RGD:5508388 NCBI chr38:21,054,870...21,060,948 JBrowse link
G MTHFR methylenetetrahydrofolate reductase susceptibility ISO DNA:SNP:cds:677C>T (human) RGD PMID:25060515 RGD:42722610 NCBI chr 2:84,445,526...84,457,435
Ensembl chr 2:84,380,919...84,536,818
JBrowse link
G PGF placental growth factor ISO RGD PMID:21873332 RGD:6483576 NCBI chr 8:48,059,554...48,110,534
Ensembl chr 8:48,059,552...48,075,170
JBrowse link
G PSMB9 proteasome 20S subunit beta 9 ISO DNA: snp: rs17587 RGD PMID:22034108 RGD:6483349 NCBI chr12:2,432,287...2,438,920
Ensembl chr12:2,432,505...2,438,069
JBrowse link
G PTGER4 prostaglandin E receptor 4 ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:21743469 RGD:6483530 NCBI chr 4:68,663,362...68,676,241
Ensembl chr 4:68,663,364...68,676,358
JBrowse link
G RUNX3 RUNX family transcription factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21743469
G TAP1 transporter 1, ATP binding cassette subfamily B member ISO DNA:SNPs: : RGD PMID:19480848 RGD:6482250 NCBI chr12:2,424,049...2,432,165
Ensembl chr12:2,378,126...2,432,303
JBrowse link
G TAP2 transporter 2, ATP binding cassette subfamily B member ISO DNA:SNPs: : RGD PMID:19480848 RGD:6482250 NCBI chr12:2,407,512...2,417,469
Ensembl chr12:2,378,126...2,432,303
JBrowse link
G TBKBP1 TBK1 binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21743469 NCBI chr 9:24,040,484...24,055,038
Ensembl chr 9:24,039,766...24,042,034
JBrowse link
G THBD thrombomodulin ISO protein:increased expression:serum RGD PMID:21556780 RGD:5684983 NCBI chr24:599,773...601,649
Ensembl chr24:599,773...601,649
JBrowse link
G TLR4 toll like receptor 4 ISO mRNA:increased expression:blood cell: RGD PMID:20952467 RGD:7794744 NCBI chr11:71,356,390...71,367,166
Ensembl chr11:71,356,390...71,367,165
JBrowse link
G TLR5 toll like receptor 5 ISO mRNA:increased expression:blood cell: RGD PMID:20952467 RGD:7794744 NCBI chr38:23,700,323...23,705,628
Ensembl chr38:23,702,033...23,705,314
JBrowse link
G TNFRSF1B TNF receptor superfamily member 1B ISO RGD PMID:21317434 RGD:5131280 NCBI chr 2:84,140,179...84,151,219
Ensembl chr 2:84,141,911...84,157,191
JBrowse link
G VIP vasoactive intestinal peptide ISO protein:increased expression:plasma RGD PMID:20340024 RGD:5685387 NCBI chr 1:42,941,655...42,950,160
Ensembl chr 1:42,941,224...42,950,700
JBrowse link
ankylosing spondylitis 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DLA-64 MHC class I DLA-64 susceptibility ISO OMIM NCBI chr12:983,573...986,969 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:105,178,359...105,178,417
Ensembl chr  X:105,178,347...105,178,430
JBrowse link
G PIK3R1 phosphoinositide-3-kinase regulatory subunit 1 severity ISO RGD PMID:26286747 PMID:26956052 RGD:11343921 RGD:13782052 NCBI chr 2:53,447,802...53,527,563
Ensembl chr 2:53,448,286...53,524,970
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 4:59,068,601...59,090,803
Ensembl chr 4:59,074,008...59,078,892
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 chr20:32,394,755...32,533,440
Ensembl chr20:32,396,165...32,533,275
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 4:59,068,601...59,090,803
Ensembl chr 4:59,074,008...59,078,892
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 chr20:32,394,755...32,533,440
Ensembl chr20:32,396,165...32,533,275
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 6:39,331,100...39,356,477
Ensembl chr 6:39,331,170...39,364,991
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 chr21:25,597,025...25,597,081
Ensembl chr21:25,597,024...25,597,080
JBrowse link
G NCAM1 neural cell adhesion molecule 1 disease_progression ISO RGD PMID:20219118 RGD:40924672 NCBI chr 5:19,895,587...20,192,334
Ensembl chr 5:19,895,613...20,191,995
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 1:107,423,388...107,426,464
Ensembl chr 1:107,422,424...107,426,464
JBrowse link
G BCL2 BCL2 apoptosis regulator treatment ISO RGD PMID:27255231 PMID:29324390 RGD:13792502 RGD:13792598 NCBI chr 1:13,733,849...13,900,653
Ensembl chr 1:13,731,406...13,900,658
JBrowse link
G BST2 bone marrow stromal cell antigen 2 ISO mRNA,protein:increased expression:brain: RGD PMID:21565182 RGD:14398497 NCBI chr20:45,383,757...45,387,420
Ensembl chr20:45,383,915...45,387,178
JBrowse link
G CASP3 caspase 3 treatment ISO RGD PMID:29324390 RGD:13792598 NCBI chr16:45,920,074...45,940,507
Ensembl chr16:45,920,071...45,940,505
JBrowse link
G FADD Fas associated via death domain treatment ISO RGD PMID:27255231 RGD:13792502 NCBI chr18:48,087,447...48,094,497 JBrowse link
G FAS Fas cell surface death receptor treatment ISO RGD PMID:29324390 RGD:13792598 NCBI chr26:38,738,811...38,763,298
Ensembl chr26:38,737,611...38,763,321
JBrowse link
G FASLG Fas ligand treatment ISO RGD PMID:29324390 RGD:13792598 NCBI chr 7:26,335,837...26,344,224
Ensembl chr 7:26,335,846...26,344,224
JBrowse link
G LOC100688969 glyceraldehyde-3-phosphate dehydrogenase-like ISO RGD PMID:26032618 RGD:13792685 NCBI chr  X:51,925,654...51,926,724 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 chr37:28,346,476...28,443,648
Ensembl chr37:28,346,563...28,444,561
JBrowse link
G PDGFRA platelet derived growth factor receptor alpha severity ISO RGD PMID:20197468 RGD:13702892 NCBI chr13:46,729,722...46,775,828
Ensembl chr13:46,730,703...46,773,278
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 8:3,660,155...3,677,650
Ensembl chr 8:3,629,585...3,792,725
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 3:52,357,062...52,373,768
Ensembl chr 3:52,357,068...52,421,544
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 chr13:3,774,725...3,838,576
Ensembl chr13:3,799,025...3,837,934
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 chr10:49,825,330...49,838,036
Ensembl chr10:49,803,898...49,838,028
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 chr28:32,133,779...32,157,835
Ensembl chr28:32,132,547...32,157,409
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 chr26:31,013,607...31,132,998
Ensembl chr26:31,013,607...31,132,998
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 chr22:30,545,991...30,557,199
Ensembl chr22:30,547,271...30,555,510
JBrowse link
G ALG11 ALG11 alpha-1,2-mannosyltransferase ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr22:149,538...162,206
Ensembl chr22:151,641...162,512
JBrowse link
G ATP7B ATPase copper transporting beta ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr22:162,474...225,599
Ensembl chr22:191,888...225,266
JBrowse link
G BORA BORA aurora kinase A activator ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr22:26,880,351...26,906,226
Ensembl chr22:26,879,933...26,906,278
JBrowse link
G CAB39L calcium binding protein 39 like ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr22:2,319,239...2,426,554
Ensembl chr22:2,354,884...2,460,857
JBrowse link
G CCDC70 coiled-coil domain containing 70 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr22:258,746...263,908
Ensembl chr22:258,880...259,563
JBrowse link
G CDADC1 cytidine and dCMP deaminase domain containing 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr22:2,443,459...2,489,147
Ensembl chr22:2,436,206...2,489,016
JBrowse link
G CKAP2 cytoskeleton associated protein 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr25:134,914...190,810
Ensembl chr25:135,586...150,835
JBrowse link
G CLN5 CLN5 intracellular trafficking protein ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr22:30,568,572...30,575,890
Ensembl chr22:30,568,572...30,575,890
JBrowse link
G CNMD chondromodulin ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr22:9,745,959...9,792,663
Ensembl chr22:9,753,441...9,759,713
JBrowse link
G COMMD6 COMM domain containing 6 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr22:29,318,216...29,336,032
Ensembl chr22:29,318,231...29,336,062
JBrowse link
G CYSLTR2 cysteinyl leukotriene receptor 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr22:2,914,960...2,962,517
Ensembl chr22:2,917,514...2,918,551
JBrowse link
G DACH1 dachshund family transcription factor 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr22:25,690,700...25,934,449
Ensembl chr22:25,726,597...25,934,550
JBrowse link
G DIAPH3 diaphanous related formin 3 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr22:15,573,485...16,078,580
Ensembl chr22:15,573,629...16,079,031
JBrowse link
G DIS3 DIS3 homolog, exosome endoribonuclease and 3'-5' exoribonuclease ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr22:26,908,502...26,935,368
Ensembl chr22:26,909,409...26,935,033
JBrowse link
G EBPL EBP like ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr22:2,116,588...2,137,935
Ensembl chr22:2,116,131...2,182,633
JBrowse link
G EDNRB endothelin receptor type B ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr22:31,415,324...31,438,772
Ensembl chr22:31,417,308...31,437,587
JBrowse link
G FAM124A family with sequence similarity 124 member A ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr22:786,588...809,284 JBrowse link
G FBXL3 F-box and leucine rich repeat protein 3 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr22:30,579,598...30,598,879
Ensembl chr22:30,581,474...30,598,886
JBrowse link
G FNDC3A fibronectin type III domain containing 3A ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr22:2,524,173...2,700,223
Ensembl chr22:2,526,381...2,700,780
JBrowse link
G INTS6 integrator complex subunit 6 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr22:549,221...636,810
Ensembl chr22:549,179...636,523
JBrowse link
G ITM2B integral membrane protein 2B ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr22:3,255,139...3,261,440
Ensembl chr22:3,255,631...3,261,433
JBrowse link
G KCNRG potassium channel regulator ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr22:1,870,964...1,875,849 JBrowse link
G KCTD12 potassium channel tetramerization domain containing 12 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr22:30,506,906...30,508,782
Ensembl chr22:30,503,932...30,508,632
JBrowse link
G KLF12 Kruppel like factor 12 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr22:27,695,017...28,264,813
Ensembl chr22:27,704,686...28,123,099
JBrowse link
G KLF5 Kruppel like factor 5 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr22:27,163,179...27,185,241
Ensembl chr22:27,162,397...27,200,871
JBrowse link
G KLHL1 kelch like family member 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr22:24,190,862...24,554,451
Ensembl chr22:24,191,778...24,555,120
JBrowse link
G KPNA3 karyopherin subunit alpha 3 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr22:2,064,733...2,110,524
Ensembl chr22:2,064,731...2,108,414
JBrowse link
G LMO7 LIM domain 7 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr22:29,415,374...29,619,215
Ensembl chr22:29,415,337...29,618,667
JBrowse link
G LOC485469 protocadherin-8 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr22:9,860,590...9,865,298
Ensembl chr22:9,860,827...9,865,412
JBrowse link
G LPAR6 lysophosphatidic acid receptor 6 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr22:3,110,797...3,112,973
Ensembl chr22:3,111,462...3,112,499
JBrowse link
G MED4 mediator complex subunit 4 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr22:3,396,276...3,411,037
Ensembl chr22:3,396,267...3,410,608
JBrowse link
G MIR15A microRNA mir-15a ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr22:1,846,880...1,846,938
Ensembl chr22:1,846,866...1,846,960
JBrowse link
G MIR16-1 microRNA mir-16-1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr22:1,847,020...1,847,084
Ensembl chr22:1,847,007...1,847,093
JBrowse link
G MLNR motilin receptor ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr22:2,513,218...2,515,380
Ensembl chr22:2,513,218...2,515,380
JBrowse link
G MYCBP2 MYC binding protein 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr22:30,614,692...30,874,173
Ensembl chr22:30,615,369...30,874,370
JBrowse link
G MZT1 mitotic spindle organizing protein 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr22:26,862,454...26,880,213
Ensembl chr22:26,863,674...26,880,126
JBrowse link
G NDFIP2 Nedd4 family interacting protein 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr22:32,723,052...32,789,409
Ensembl chr22:32,704,437...32,787,151
JBrowse link
G NEK3 NIMA related kinase 3 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr25:118,558...130,901 JBrowse link
G NEK5 NIMA related kinase 5 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr22:108,089...134,987 JBrowse link
G NUDT15 nudix hydrolase 15 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr22:3,416,702...3,424,607
Ensembl chr22:3,416,578...3,424,409
JBrowse link
G OBI1 ORC ubiquitin ligase 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr22:32,006,441...32,047,609
Ensembl chr22:32,007,210...32,047,527
JBrowse link
G OLFM4 olfactomedin 4 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr22:10,053,494...10,075,759
Ensembl chr22:9,944,025...10,074,722
JBrowse link
G PCDH17 protocadherin 17 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr22:13,865,138...13,962,110
Ensembl chr22:13,865,900...13,958,405
JBrowse link
G PCDH20 protocadherin 20 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr22:17,150,498...17,156,091
Ensembl chr22:17,151,913...17,155,892
JBrowse link
G PCDH9 protocadherin 9 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr22:21,326,040...22,212,847
Ensembl chr22:21,327,856...22,213,083
JBrowse link
G PHF11 PHD finger protein 11 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr22:2,235,758...2,263,772 JBrowse link
G PIBF1 progesterone immunomodulatory binding factor 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr22:26,935,390...27,133,308
Ensembl chr22:26,936,567...27,133,308
JBrowse link
G POU4F1 POU class 4 homeobox 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr22:31,992,657...31,997,066 JBrowse link
G RB1 RB transcriptional corepressor 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr22:3,061,621...3,204,625
Ensembl chr22:3,063,239...3,257,726
JBrowse link
G RBM26 RNA binding motif protein 26 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr22:32,579,401...32,664,370
Ensembl chr22:32,581,825...32,664,714
JBrowse link
G RCBTB1 RCC1 and BTB domain containing protein 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr22:2,183,089...2,230,748
Ensembl chr22:2,198,185...2,229,485
JBrowse link
G RCBTB2 RCC1 and BTB domain containing protein 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr22:3,018,628...3,051,059
Ensembl chr22:3,018,137...3,051,269
JBrowse link
G RNASEH2B ribonuclease H2 subunit B ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr22:944,399...1,010,479
Ensembl chr22:931,751...991,223
JBrowse link
G SCEL sciellin ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr22:30,874,267...31,171,598
Ensembl chr22:31,045,878...31,171,033
JBrowse link
G SERPINE3 serpin family E member 3 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr22:637,600...666,028
Ensembl chr22:636,466...663,695
JBrowse link
G SETDB2 SET domain bifurcated histone lysine methyltransferase 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr22:2,263,990...2,319,249
Ensembl chr22:2,244,507...2,319,158
JBrowse link
G SLAIN1 SLAIN motif family member 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr22:31,199,494...31,258,920
Ensembl chr22:31,199,533...31,258,021
JBrowse link
G SLITRK1 SLIT and NTRK like family member 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr22:36,325,548...36,329,784
Ensembl chr22:36,326,751...36,328,841
JBrowse link
G SLITRK6 SLIT and NTRK like family member 6 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr22:37,911,533...37,918,273
Ensembl chr22:37,912,612...37,925,177
JBrowse link
G SPRY2 sprouty RTK signaling antagonist 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr22:33,366,139...33,371,102
Ensembl chr22:33,366,931...33,367,878
JBrowse link
G SPRYD7 SPRY domain containing 7 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr22:1,929,814...1,947,506
Ensembl chr22:1,849,634...1,945,276
JBrowse link
G SUCLA2 succinate-CoA ligase ADP-forming subunit beta ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr22:3,440,908...3,478,683
Ensembl chr22:3,440,923...3,478,683
JBrowse link
G SUGT1 SGT1 homolog, MIS12 kinetochore complex assembly cochaperone ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr22:9,682,026...9,723,412
Ensembl chr22:9,682,169...9,722,979
JBrowse link
G TBC1D4 TBC1 domain family member 4 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr22:29,109,079...29,175,357
Ensembl chr22:29,110,201...29,290,154
JBrowse link
G TDRD3 tudor domain containing 3 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr22:16,287,721...16,449,842
Ensembl chr22:16,288,473...16,444,635
JBrowse link
G THSD1 thrombospondin type 1 domain containing 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr25:197,294...223,804
Ensembl chr25:201,301...223,560
JBrowse link
G TRIM13 tripartite motif containing 13 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr22:1,877,672...1,893,097
Ensembl chr22:1,871,181...1,910,055
JBrowse link
G UCHL3 ubiquitin C-terminal hydrolase L3 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr22:29,348,962...29,397,944
Ensembl chr22:29,348,706...29,407,965
JBrowse link
G VPS36 vacuolar protein sorting 36 homolog ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr25:150,984...191,531
Ensembl chr25:150,150...191,544
JBrowse link
G WDFY2 WD repeat and FYVE domain containing 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr22:304,250...467,909
Ensembl chr22:304,884...428,223
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 chr10:54,978,903...55,227,085
Ensembl chr10:55,082,491...55,226,933
JBrowse link
G MYNN myoneurin ISO ClinVar Annotator: match by term: Chronic osteomyelitis ClinVar NCBI chr34:34,378,434...34,411,976
Ensembl chr34:34,379,088...34,392,197
JBrowse link
G TERT telomerase reverse transcriptase ISO ClinVar Annotator: match by term: Chronic osteomyelitis ClinVar PMID:28492532 NCBI chr34:11,288,622...11,307,790
Ensembl chr34:11,288,622...11,307,951
JBrowse link
G ZBTB46 zinc finger and BTB domain containing 46 ISO ClinVar Annotator: match by term: Chronic osteomyelitis ClinVar NCBI chr24:47,290,696...47,329,342
Ensembl chr24:47,292,684...47,329,570
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 3:51,995,100...52,031,812
Ensembl chr 3:51,969,779...52,031,544
JBrowse link
G ADAMTS4 ADAM metallopeptidase with thrombospondin type 1 motif 4 ISO RGD PMID:22394620 RGD:10043115 NCBI chr38:21,283,555...21,292,432
Ensembl chr38:21,284,330...21,292,437
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 chr31:22,242,901...22,289,453
Ensembl chr31:22,248,092...22,289,802
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 1:98,881,610...98,905,641
Ensembl chr 1:98,881,690...98,904,945
JBrowse link
G B9D2 B9 domain containing 2 ISO CTD Direct Evidence: therapeutic CTD PMID:21351055 NCBI chr 1:112,621,832...112,627,726
Ensembl chr 1:112,621,633...112,643,885
JBrowse link
G BECN1 beclin 1 ISO protein:increased expression:intervertebral disc RGD PMID:22835012 RGD:11561942 NCBI chr 9:20,204,203...20,215,081
Ensembl chr 9:20,204,220...20,214,236
JBrowse link
G COL10A1 collagen type X alpha 1 chain ISO RGD PMID:20948465 RGD:8661231 NCBI chr12:71,803,372...71,810,049
Ensembl chr12:71,798,692...71,809,399
JBrowse link
G COL1A1 collagen type I alpha 1 chain ISO DNA:SNP: :rs2075555 (human) RGD PMID:19180518 RGD:5688293 NCBI chr 9:26,183,852...26,199,927
Ensembl chr 9:26,183,852...26,199,927
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 chr27:6,756,994...6,787,733
Ensembl chr27:6,756,994...6,787,733
JBrowse link
G CRK CRK proto-oncogene, adaptor protein treatment ISO RGD PMID:23055810 RGD:11568070 NCBI chr 9:45,594,657...45,627,499
Ensembl chr 9:45,598,899...45,627,589
JBrowse link
G ERCC1 ERCC excision repair 1, endonuclease non-catalytic subunit ISO associated with Progeria RGD PMID:20973062 RGD:13207419 NCBI chr 1:110,130,353...110,146,660
Ensembl chr 1:110,130,481...110,146,602
JBrowse link
G GSK3B glycogen synthase kinase 3 beta ISO RGD PMID:29393545 RGD:13792726 NCBI chr33:23,458,369...23,659,878
Ensembl chr33:23,463,767...23,659,666
JBrowse link
G MAP1LC3A microtubule associated protein 1 light chain 3 alpha ISO protein:increased expression:intervertebral disc RGD PMID:22835012 RGD:11561942 NCBI chr24:23,672,343...23,673,937
Ensembl chr24:23,633,579...23,673,921
JBrowse link
G MMP1 matrix metallopeptidase 1 ISO RGD PMID:19916288 RGD:7207382 NCBI chr 5:28,978,385...28,986,644
Ensembl chr 5:28,978,473...28,986,648
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 5:28,793,568...28,864,832
Ensembl chr 5:28,850,522...28,864,121
JBrowse link
G MMP3 matrix metallopeptidase 3 (stromelysin 1, progelatinase) treatment ISO mRNA:increased expression:intervertebral disc RGD PMID:20472983 PMID:20948465 RGD:2325859 RGD:8661231 NCBI chr 5:28,949,631...28,957,915
Ensembl chr 5:28,949,631...28,958,222
JBrowse link
G NGF nerve growth factor ISO RGD PMID:20973063 RGD:5144150 NCBI chr17:52,900,647...52,901,607
Ensembl chr17:52,900,647...52,901,607
JBrowse link
G NGFR nerve growth factor receptor ISO RGD PMID:20973063 RGD:5144150 NCBI chr 9:25,598,468...25,621,021
Ensembl chr 9:25,601,074...25,623,274
JBrowse link
G PAPPA pappalysin 1 ISO protein:increased expression:vertebral disc: RGD PMID:18552658 RGD:10412724 NCBI chr11:69,979,295...70,220,256
Ensembl chr11:69,982,268...70,219,550
JBrowse link
G POSTN periostin ISO protein:increased expression:tail intervertebral disc:
mRNA,protein:increased expression:nucleus pulposus:
RGD PMID:23453657 RGD:10040995 NCBI chr25:3,167,319...3,208,970
Ensembl chr25:3,167,359...3,208,411
JBrowse link
G SPARC secreted protein acidic and cysteine rich ISO CTD Direct Evidence: marker/mechanism CTD PMID:20714283 NCBI chr 4:57,659,541...57,682,147
Ensembl chr 4:57,659,650...57,681,711
JBrowse link
G TIMP1 TIMP metallopeptidase inhibitor 1 treatment ISO associated with Renal Insufficiency RGD PMID:19063844 RGD:10043178 NCBI chr  X:41,201,623...41,205,314
Ensembl chr  X:41,201,638...41,205,310
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 chr36:3,743,257...3,818,659
Ensembl chr36:3,744,163...3,818,652
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 chr 9:34,804,285...34,984,640
Ensembl chr 9:34,806,535...34,983,788
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 chr26:22,052,256...22,145,675
Ensembl chr26:21,427,961...22,240,624
JBrowse link
G NF1 neurofibromin 1 ISO ClinVar Annotator: match by term: Diffuse intrinsic pontine glioma ClinVar PMID:25741868 PMID:28492532 NCBI chr 9:41,467,460...41,679,388
Ensembl chr 9:41,469,416...41,679,382
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 7:79,286,558...79,629,451
Ensembl chr 7:79,286,614...79,629,043
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 chr16:8,222,909...8,318,179
Ensembl chr16:8,222,907...8,317,906
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 6:17,305,670...17,354,375
Ensembl chr 6:17,293,776...17,340,526
JBrowse link
G EPHB2 EPH receptor B2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26075792 NCBI chr 2:76,427,112...76,551,494
Ensembl chr 2:76,428,203...76,612,786
JBrowse link
G GDNF glial cell derived neurotrophic factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:19138852 NCBI chr 4:70,966,694...70,991,860
Ensembl chr 4:70,971,432...70,989,714
JBrowse link
G IGF2 insulin like growth factor 2 ISO mRNA:increased expression:cerebellum RGD PMID:18478565 RGD:5509961 NCBI chr18:46,294,036...46,311,982
Ensembl chr18:46,294,019...46,311,982
JBrowse link
G RAB3A RAB3A, member RAS oncogene family ISO CTD Direct Evidence: marker/mechanism CTD PMID:26075792 NCBI chr20:44,796,740...44,802,224
Ensembl chr20:44,796,895...44,801,692
JBrowse link
G RTBDN retbindin ISO CTD Direct Evidence: marker/mechanism CTD PMID:26075792 NCBI chr20:49,324,843...49,337,226
Ensembl chr20:49,334,127...49,337,223
JBrowse link
G SHC3 SHC adaptor protein 3 ISO DNA:amplification:brain: RGD PMID:19748727 RGD:13782069 NCBI chr 1:97,019,545...97,100,905
Ensembl chr 1:97,019,928...97,094,844
JBrowse link
G ZNF668 zinc finger protein 668 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26075792 NCBI chr 6:17,157,767...17,166,397
Ensembl chr 6:17,158,384...17,166,174
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 1:21,788,833...22,494,849
Ensembl chr 1:21,793,328...22,494,967
JBrowse link
G ROBO3 roundabout guidance receptor 3 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 5:9,563,353...9,579,111
Ensembl chr 5:9,563,345...9,579,289
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 5:9,563,353...9,579,111
Ensembl chr 5:9,563,345...9,579,289
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 1:21,788,833...22,494,849
Ensembl chr 1:21,793,328...22,494,967
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 chr22:3,061,621...3,204,625
Ensembl chr22:3,063,239...3,257,726
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 chr27:22,261,753...22,296,704
Ensembl chr27:22,257,941...22,293,369
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 chr19:35,097,968...35,133,330
Ensembl chr19:35,098,639...35,169,724
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 chr13:36,627,791...36,649,013
Ensembl chr13:36,614,498...36,690,936
JBrowse link
G ADGRL4 adhesion G protein-coupled receptor L4 severity
treatment
ISO RGD PMID:23096411 PMID:27416955 RGD:13838664 RGD:13838665 NCBI chr 6:68,078,481...68,189,422
Ensembl chr 6:68,078,246...68,220,743
JBrowse link
G AKT1 AKT serine/threonine kinase 1 ISO RGD PMID:10802656 RGD:734543 NCBI chr 8:72,317,399...72,335,686
Ensembl chr 8:72,317,869...72,335,193
JBrowse link
G AKT3 AKT serine/threonine kinase 3 disease_progression ISO RGD PMID:27422127 RGD:13674164 NCBI chr 7:34,633,064...34,931,112
Ensembl chr 7:34,636,124...34,931,112
JBrowse link
G APC APC regulator of WNT signaling pathway ISO CTD Direct Evidence: marker/mechanism CTD PMID:7661930 NCBI chr 3:252,052...380,506
Ensembl chr 3:253,081...322,993
JBrowse link
G ASPM assembly factor for spindle microtubules ISO mRNA:increased expression:brain: RGD PMID:18636190 RGD:13439742 NCBI chr 7:5,591,530...5,663,673
Ensembl chr 7:5,590,957...5,660,919
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 5:24,180,129...24,297,207
Ensembl chr 5:24,182,135...24,297,207
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:59,772,067...60,107,016
Ensembl chr  X:59,774,585...60,106,980
JBrowse link
G BAG3 BAG cochaperone 3 treatment ISO RGD PMID:21561597 RGD:5687132 NCBI chr28:29,792,612...29,815,466
Ensembl chr28:29,792,777...29,815,138
JBrowse link
G BCHE butyrylcholinesterase ISO CTD Direct Evidence: marker/mechanism CTD PMID:2317787 NCBI chr34:30,912,632...30,977,624
Ensembl chr34:30,912,632...30,977,583
JBrowse link
G BECN1 beclin 1 disease_progression ISO RGD PMID:20863706 RGD:6483102 NCBI chr 9:20,204,203...20,215,081
Ensembl chr 9:20,204,220...20,214,236
JBrowse link
G BHLHE40 basic helix-loop-helix family member e40 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23582323 NCBI chr20:12,641,872...12,647,519
Ensembl chr20:12,642,702...12,647,525
JBrowse link
G BMI1 BMI1 proto-oncogene, polycomb ring finger ISO CTD Direct Evidence: marker/mechanism CTD PMID:19823589 NCBI chr 2:10,818,232...10,828,473
Ensembl chr 2:10,818,232...10,833,613
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 chr16:8,222,909...8,318,179
Ensembl chr16:8,222,907...8,317,906
JBrowse link
G BRD2 bromodomain containing 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27388964 NCBI chr12:2,534,034...2,546,029
Ensembl chr12:2,534,034...2,546,029
JBrowse link
G BRD4 bromodomain containing 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26455392 PMID:27388964 NCBI chr20:46,844,795...46,927,620
Ensembl chr20:46,891,514...46,927,608
JBrowse link
G BRD7 bromodomain containing 7 ISO protein:increased expression:brain: RGD PMID:24404152 RGD:9586441 NCBI chr 2:64,966,636...65,002,800
Ensembl chr 2:64,966,392...65,002,799
JBrowse link
G C5H11orf65 chromosome 5 C11orf65 homolog ISO ClinVar Annotator: match by term: Glioblastoma ClinVar PMID:9054948 PMID:19781682 PMID:23322442 PMID:25525159 PMID:25741868 More... NCBI chr 5:24,106,696...24,166,686
Ensembl chr 5:24,121,409...24,166,291
JBrowse link
G CBX6 chromobox 6 disease_progression ISO mRNA,protein:decreased expression:astrocyte: RGD PMID:24260522 RGD:9587354 NCBI chr10:25,967,305...25,973,489
Ensembl chr10:25,967,300...25,988,497
JBrowse link
G CBX7 chromobox 7 disease_progression ISO mRNA,protein:decreased expression:astrocyte: RGD PMID:24260522 RGD:9587354 NCBI chr10:25,876,022...25,896,284
Ensembl chr10:25,876,016...25,893,501
JBrowse link
G CBX8 chromobox 8 ISO mRNA:increased expression:astrocyte: RGD PMID:24260522 RGD:9587354 NCBI chr 9:1,839,701...1,842,355
Ensembl chr 9:1,839,096...1,843,099
JBrowse link
G CCNH cyclin H ISO CTD Direct Evidence: marker/mechanism CTD PMID:30705370 NCBI chr 3:21,046,477...21,067,305
Ensembl chr 3:21,046,472...21,178,315
JBrowse link
G CD9 CD9 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:26573230 NCBI chr27:38,742,539...38,754,984
Ensembl chr27:38,742,963...38,774,576
JBrowse link
G CDK4 cyclin dependent kinase 4 ISO DNA:amplication RGD PMID:23796897 RGD:13702089 NCBI chr10:1,812,864...1,815,815
Ensembl chr10:1,812,886...1,815,789
JBrowse link
G CDK6 cyclin dependent kinase 6 severity ISO CTD Direct Evidence: marker/mechanism RGD
CTD
PMID:10884881 PMID:20534551 RGD:13702095 NCBI chr14:18,178,352...18,413,869
Ensembl chr14:18,188,429...18,419,869
JBrowse link
G CHAF1B chromatin assembly factor 1 subunit B ISO protein:increased expression:brain: RGD PMID:24039914 RGD:9587472 NCBI chr31:31,599,840...31,620,436
Ensembl chr31:31,600,448...31,619,784
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 7:25,620...32,954
Ensembl chr 7:26,316...33,427
JBrowse link
G CPEB1 cytoplasmic polyadenylation element binding protein 1 disease_progression ISO RGD PMID:23360795 RGD:9685152 NCBI chr 3:54,405,140...54,499,614
Ensembl chr 3:54,405,717...54,500,221
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 6:37,410,201...37,536,688
Ensembl chr 6:37,409,930...37,534,176
JBrowse link
G CSTA cystatin A ISO CTD Direct Evidence: marker/mechanism CTD PMID:22287159 NCBI chr33:25,477,789...25,489,123
Ensembl chr33:25,478,055...25,489,121
JBrowse link
G CSTB cystatin B ISO CTD Direct Evidence: marker/mechanism CTD PMID:22287159
G CTNND2 catenin delta 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23917401 NCBI chr34:2,521,730...3,438,218
Ensembl chr34:2,521,724...3,437,292
JBrowse link
G CTSB cathepsin B ISO protein:increased expression:glioma cell (human)
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:17898873 PMID:22287159 RGD:2315515 NCBI chr25:26,048,237...26,056,570
Ensembl chr25:26,048,253...26,055,801
JBrowse link
G CTSH cathepsin H ISO protein:increased expression:brain RGD PMID:8640738 RGD:1549417 NCBI chr 3:58,103,284...58,113,958
Ensembl chr 3:58,103,291...58,113,718
JBrowse link
G CTSK cathepsin K ISO CTD Direct Evidence: marker/mechanism CTD PMID:25356585 NCBI chr17:59,928,725...59,938,293
Ensembl chr17:59,929,287...59,938,507
JBrowse link
G CXCL8 C-X-C motif chemokine ligand 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16356833 NCBI chr13:62,435,035...62,438,354
Ensembl chr13:62,434,422...62,438,354
JBrowse link
G DEUP1 deuterosome assembly protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30705370 NCBI chr21:7,209,524...7,334,200
Ensembl chr21:7,209,531...7,334,606
JBrowse link
G DMBT1 deleted in malignant brain tumors 1 ISO DNA:deletion RGD PMID:9288095 RGD:1599778 NCBI chr28:32,198,250...32,286,517
Ensembl chr28:32,219,448...32,286,532
JBrowse link
G DNMT3A DNA methyltransferase 3 alpha ISO ClinVar Annotator: match by term: Glioblastoma ClinVar NCBI chr17:19,489,524...19,563,074
Ensembl chr17:19,492,193...19,563,902
JBrowse link
G DUSP6 dual specificity phosphatase 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21499306 NCBI chr15:30,322,472...30,327,221
Ensembl chr15:30,323,697...30,326,508
JBrowse link
G EGF epidermal growth factor susceptibility ISO CTD Direct Evidence: marker/mechanism
DNA:polymorphism:promoter:+61A>G(human)
CTD
RGD
PMID:16598420 PMID:22481252 RGD:13702472 NCBI chr32:30,073,541...30,166,904
Ensembl chr32:30,073,950...30,166,295
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 chr18:5,983,669...6,044,092
Ensembl chr18:5,982,770...6,042,631
JBrowse link
G ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1 severity ISO protein:increased expression:brain (human) RGD PMID:21195542 RGD:13204719 NCBI chr 1:251,985...322,081
Ensembl chr 1:252,103...322,718
JBrowse link
G EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit treatment ISO RGD PMID:25595591 RGD:14928319 NCBI chr16:1,926,443...1,991,995
Ensembl chr16:1,925,956...1,991,838
JBrowse link
G FABP7 fatty acid binding protein 7 severity ISO mRNA, protein:increased expression:brain (human) RGD PMID:15827123 RGD:1578468 NCBI chr 1:62,084,372...62,088,547
Ensembl chr 1:61,967,129...62,088,547
JBrowse link
G FAT1 FAT atypical cadherin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23354438 NCBI chr16:44,113,621...44,241,187
Ensembl chr16:44,128,386...44,241,192
JBrowse link
G FBXW7 F-box and WD repeat domain containing 7 ISO ClinVar Annotator: match by term: Glioblastoma ClinVar PMID:26619011 NCBI chr15:50,187,579...50,417,188
Ensembl chr15:50,189,240...50,417,195
JBrowse link
G FGFR1 fibroblast growth factor receptor 1 ISO ClinVar Annotator: match by term: Glioblastoma ClinVar PMID:25705862 PMID:26619011 PMID:26942290 NCBI chr16:27,029,902...27,080,514
Ensembl chr16:27,031,588...27,078,261
JBrowse link
G FLT3LG fms related receptor tyrosine kinase 3 ligand treatment ISO RGD PMID:18079358 RGD:11049502 NCBI chr 1:107,015,222...107,025,181
Ensembl chr 1:107,015,223...107,024,708
JBrowse link
G FN1 fibronectin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17099729 NCBI chr37:22,456,854...22,522,410
Ensembl chr37:22,420,428...22,523,123
JBrowse link
G FOSL2 FOS like 2, AP-1 transcription factor subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:23582323 NCBI chr17:22,340,469...22,364,994
Ensembl chr17:22,341,322...22,361,772
JBrowse link
G GDNF glial cell derived neurotrophic factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:19138852 NCBI chr 4:70,966,694...70,991,860
Ensembl chr 4:70,971,432...70,989,714
JBrowse link
G GRIK2 glutamate ionotropic receptor kainate type subunit 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30705370 NCBI chr12:58,932,754...59,991,305
Ensembl chr12:59,355,017...59,990,408
JBrowse link
G H2AX H2A.X variant histone ISO CTD Direct Evidence: marker/mechanism CTD PMID:26651356 NCBI chr 5:14,765,625...14,766,590
Ensembl chr 5:14,766,126...14,766,557
JBrowse link
G H3-3A H3.3 histone A ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Glioblastoma
CTD
ClinVar
PMID:22286216 PMID:23817572 PMID:26619011 PMID:26822237 NCBI chr 7:38,797,168...38,805,417
Ensembl chr 7:38,797,448...38,805,416
JBrowse link
G HEATR1 HEAT repeat containing 1 ISO mRNA, protein:increased expression:brain RGD PMID:25126583 RGD:10761721 NCBI chr 4:3,501,191...3,547,212
Ensembl chr 4:3,501,571...3,547,100
JBrowse link
G HES1 hes family bHLH transcription factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21127729
G HEY1 hes related family bHLH transcription factor with YRPW motif 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21127729 NCBI chr29:27,185,191...27,188,121
Ensembl chr29:27,185,191...27,188,121
JBrowse link
G HIF1A hypoxia inducible factor 1 subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:12811834 NCBI chr 8:36,614,045...36,656,692
Ensembl chr 8:36,614,045...36,656,692
JBrowse link
G HRAS HRas proto-oncogene, GTPase severity ISO ClinVar Annotator: match by term: Glioblastoma
DNA:missense mutation:cds:p.G61L(human)
RGD
ClinVar
PMID:11150980 PMID:16155195 PMID:16170316 PMID:16329078 PMID:16372351 More... RGD:13702475 RGD:13702872 NCBI chr18:25,642,844...25,644,717
Ensembl chr18:25,642,844...25,644,717
JBrowse link
G IDH1 isocitrate dehydrogenase (NADP(+)) 1 disease_progression
onset
ISO DNA:mutation:cds:p.R132(human)
ClinVar Annotator: match by term: Glioblastoma
ClinVar Annotator: match by term: Glioblastoma multiforme, somatic
DNA:mutation:cds:p.R132H(human)
RGD
ClinVar
PMID:18772396 PMID:19657110 PMID:19765000 PMID:19798509 PMID:19818334 More... RGD:11074562 RGD:11522732 NCBI chr37:16,512,027...16,531,269
Ensembl chr37:16,512,770...16,531,219
JBrowse link
G IL16 interleukin 16 ISO protein:increased expression:brain RGD PMID:17221335 RGD:5024941 NCBI chr 3:56,473,485...56,575,504
Ensembl chr 3:56,473,486...56,575,104
JBrowse link
G IL1B interleukin 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:16356833 NCBI chr17:37,019,329...37,033,388
Ensembl chr17:37,019,329...37,024,458
JBrowse link
G IL2 interleukin 2 ISO CTD Direct Evidence: therapeutic CTD PMID:7719933 NCBI chr19:17,750,780...17,756,394
Ensembl chr19:17,750,780...17,756,394
JBrowse link
G JAG1 jagged canonical Notch ligand 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21127729 NCBI chr24:11,656,926...11,693,146
Ensembl chr24:11,657,416...11,692,199
JBrowse link
G JAG2 jagged canonical Notch ligand 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21127729 NCBI chr 8:72,535,539...72,553,531
Ensembl chr 8:72,535,107...72,550,322
JBrowse link
G KCNC2 potassium voltage-gated channel subfamily C member 2 ISO mRNA:splice variant (human) RGD PMID:18474104 RGD:9686067 NCBI chr10:15,599,428...15,822,579
Ensembl chr10:15,643,962...15,818,097
JBrowse link
G KDR kinase insert domain receptor treatment ISO RGD PMID:26325365 RGD:11529678 NCBI chr13:47,442,861...47,484,574
Ensembl chr13:47,442,764...47,485,042
JBrowse link
G KRAS KRAS proto-oncogene, GTPase treatment ISO mRNA:decreased expression:brain RGD PMID:16166301 PMID:19179066 RGD:13702861 RGD:13702872 NCBI chr27:22,261,753...22,296,704
Ensembl chr27:22,257,941...22,293,369
JBrowse link
G L1CAM L1 cell adhesion molecule ISO mRNA:decreased expression:brain, temporal lobe (human) RGD PMID:20419098 RGD:6483067 NCBI chr  X:121,708,695...121,722,819
Ensembl chr  X:121,708,894...121,733,365
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 chr18:25,647,024...25,662,646
Ensembl chr18:25,647,882...25,664,220
JBrowse link
G LRRC59 leucine rich repeat containing 59 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30705370 NCBI chr 9:26,350,300...26,364,021
Ensembl chr 9:26,351,734...26,364,082
JBrowse link
G LTBP4 latent transforming growth factor beta binding protein 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27270107 NCBI chr 1:113,124,109...113,152,283
Ensembl chr 1:113,124,109...113,150,442
JBrowse link
G LZTR1 leucine zipper like transcription regulator 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23917401 NCBI chr26:30,501,793...30,519,698
Ensembl chr26:30,503,071...30,519,611
JBrowse link
G MACIR macrophage immunometabolism regulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:30705370 NCBI chr 3:7,956,865...7,968,964 JBrowse link
G MAP1LC3A microtubule associated protein 1 light chain 3 alpha treatment ISO RGD PMID:24905460 RGD:11561946 NCBI chr24:23,672,343...23,673,937
Ensembl chr24:23,633,579...23,673,921
JBrowse link
G MAP2K2 mitogen-activated protein kinase kinase 2 treatment ISO RGD PMID:26189368 RGD:13702862 NCBI chr20:55,465,460...55,487,629
Ensembl chr20:55,465,212...55,487,641
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 chr 5:42,732,751...42,762,420
Ensembl chr 5:42,700,836...42,761,736
JBrowse link
G MDM2 MDM2 proto-oncogene ISO DNA:amplication RGD PMID:23796897 RGD:13702089 NCBI chr10:10,936,288...10,963,118
Ensembl chr10:10,893,719...10,962,596
JBrowse link
G MDM4 MDM4 regulator of p53 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20472715 NCBI chr38:1,055,978...1,122,348
Ensembl chr38:1,056,109...1,107,166
JBrowse link
G MED12 mediator complex subunit 12 ISO ClinVar Annotator: match by term: Glioblastoma ClinVar PMID:26822237 NCBI chr  X:55,487,629...55,508,941
Ensembl chr  X:55,482,013...55,509,992
JBrowse link
G MET MET proto-oncogene, receptor tyrosine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:22162573 NCBI chr14:55,599,047...55,711,626
Ensembl chr14:55,598,337...55,724,027
JBrowse link
G MGMT O-6-methylguanine-DNA methyltransferase ISO CTD Direct Evidence: marker/mechanism
DNA:transition:cds:p.L84F (human)
CTD
RGD
PMID:14669534 PMID:20131314 PMID:22162573 RGD:2317667 NCBI chr28:38,204,611...38,427,482
Ensembl chr28:38,204,610...38,427,380
JBrowse link
G MIR21 microRNA mir-21 ameliorates ISO RGD PMID:31730913 RGD:41404645 NCBI chr 9:34,340,550...34,340,609
Ensembl chr 9:34,340,533...34,340,624
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 2:60,471,092...60,492,991
Ensembl chr 2:60,471,257...60,494,113
JBrowse link
G MMP7 matrix metallopeptidase 7 severity ISO protein:increased expression:brain (human) RGD PMID:7616276 RGD:7207145 NCBI chr 5:29,187,902...29,196,157
Ensembl chr 5:29,187,851...29,196,153
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 chr24:33,274,260...33,281,116
Ensembl chr24:33,274,268...33,281,293
JBrowse link
G MSH2 mutS homolog 2 ISO ClinVar Annotator: match by term: Glioblastoma ClinVar PMID:25741868 NCBI chr10:49,517,448...49,594,001
Ensembl chr10:49,517,369...49,594,210
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 2:84,818,893...84,939,283
Ensembl chr 2:84,787,708...84,939,114
JBrowse link
G MYC MYC proto-oncogene, bHLH transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:21127729 NCBI chr13:25,200,772...25,205,309
Ensembl chr13:25,200,577...25,205,309
JBrowse link
G MYCN MYCN proto-oncogene, bHLH transcription factor ISO ClinVar Annotator: match by term: Glioblastoma ClinVar PMID:26619011 NCBI chr17:11,720,857...11,724,308 JBrowse link
G NCOR1 nuclear receptor corepressor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17312396 NCBI chr 5:39,687,530...39,837,003
Ensembl chr 5:39,687,543...39,836,464
JBrowse link
G NDRG1 N-myc downstream regulated 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15341671 NCBI chr13:29,689,294...29,745,964
Ensembl chr13:29,650,444...29,746,382
JBrowse link
G NDRG4 NDRG family member 4 ISO mRNA, protein:decreased expression:brain RGD PMID:22489821 RGD:7247726 NCBI chr 2:58,144,113...58,160,885
Ensembl chr 2:58,144,105...58,183,470
JBrowse link
G NF1 neurofibromin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25119042 NCBI chr 9:41,467,460...41,679,388
Ensembl chr 9:41,469,416...41,679,382
JBrowse link
G NFKBIA NFKB inhibitor alpha treatment ISO human cell line in a mouse model RGD PMID:15692608 RGD:127285387 NCBI chr 8:14,100,203...14,103,453
Ensembl chr 8:14,100,671...14,103,433
JBrowse link
G NOTCH1 notch receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21127729 NCBI chr 9:48,975,972...49,018,985
Ensembl chr 9:48,974,757...49,017,277
JBrowse link
G NOTCH2 notch receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21127729 NCBI chr17:56,854,825...57,020,157
Ensembl chr17:56,860,429...57,020,857
JBrowse link
G NOTCH3 notch receptor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21127729 NCBI chr20:46,946,654...46,978,821
Ensembl chr20:46,937,485...46,978,219
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 chr17:52,411,733...52,418,788
Ensembl chr17:52,411,733...52,418,788
JBrowse link
G PDGFB platelet derived growth factor subunit B ISO RGD PMID:21210235 RGD:6482799 NCBI chr10:25,798,877...25,819,422
Ensembl chr10:25,798,938...25,817,746
JBrowse link
G PDGFRB platelet derived growth factor receptor beta treatment ISO RGD PMID:24566984 RGD:13702903 NCBI chr 4:58,925,922...58,963,639
Ensembl chr 4:58,926,351...58,962,283
JBrowse link
G PDPN podoplanin ISO RGD PMID:16979138 RGD:2292241 NCBI chr 2:83,552,735...83,581,375
Ensembl chr 2:83,552,830...83,581,375
JBrowse link
G PECAM1 platelet and endothelial cell adhesion molecule 1 ISO RGD PMID:21858729 RGD:6771207 NCBI chr 9:12,166,124...12,219,553
Ensembl chr 9:12,166,775...12,219,778
JBrowse link
G PGF placental growth factor disease_progression ISO RGD PMID:20458050 RGD:6483585 NCBI chr 8:48,059,554...48,110,534
Ensembl chr 8:48,059,552...48,075,170
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 chr34:12,600,140...12,681,905
Ensembl chr34:12,600,233...12,675,910
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 chr23:34,832,661...34,955,410
Ensembl chr23:34,836,540...34,993,939
JBrowse link
G PIK3CD phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta disease_progression ISO RGD PMID:24523440 RGD:13782051 NCBI chr 5:62,884,596...62,936,882
Ensembl chr 5:62,909,009...62,935,971
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 chr 2:53,447,802...53,527,563
Ensembl chr 2:53,448,286...53,524,970
JBrowse link
G PIM1 Pim-1 proto-oncogene, serine/threonine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:23724780 NCBI chr12:6,213,504...6,217,933
Ensembl chr12:6,211,867...6,217,933
JBrowse link
G PML PML nuclear body scaffold ISO CTD Direct Evidence: marker/mechanism CTD PMID:23440206 NCBI chr30:37,232,337...37,278,434
Ensembl chr30:37,232,306...37,277,741
JBrowse link
G POLE DNA polymerase epsilon, catalytic subunit ISO ClinVar Annotator: match by term: Glioblastoma ClinVar PMID:25228659 PMID:26619011 PMID:29352080 NCBI chr26:433,990...481,018
Ensembl chr26:433,879...479,917
JBrowse link
G POLK DNA polymerase kappa ISO CTD Direct Evidence: marker/mechanism CTD PMID:26651356 NCBI chr 3:30,793,893...30,860,240
Ensembl chr 3:30,712,571...30,859,106
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 chr20:6,134,618...6,265,481
Ensembl chr20:6,050,357...6,207,981
JBrowse link
G PRKN parkin RBR E3 ubiquitin protein ligase ISO CTD Direct Evidence: marker/mechanism CTD PMID:19946270 NCBI chr 1:49,886,887...51,201,930
Ensembl chr 1:49,889,005...51,201,764
JBrowse link
G PROM1 prominin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18679414 PMID:18829568 PMID:19718438 NCBI chr 3:64,229,487...64,362,346
Ensembl chr 3:64,260,685...64,382,009
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 chr26:37,853,148...37,913,176
Ensembl chr26:37,835,661...37,913,176
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 9:60,195,118...60,216,847
Ensembl chr 9:60,195,124...60,216,819
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 7:19,668,079...19,674,903
Ensembl chr 7:19,668,082...19,674,903
JBrowse link
G PTK2 protein tyrosine kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12811834 NCBI chr13:35,302,439...35,541,336
Ensembl chr13:35,303,380...35,541,294
JBrowse link
G RB1 RB transcriptional corepressor 1 severity ISO DNA:hypermethylation:promoter: RGD PMID:11204276 RGD:13782067 NCBI chr22:3,061,621...3,204,625
Ensembl chr22:3,063,239...3,257,726
JBrowse link
G RECK reversion inducing cysteine rich protein with kazal motifs ISO CTD Direct Evidence: therapeutic CTD PMID:20127710 NCBI chr11:52,519,303...52,607,753
Ensembl chr11:52,519,317...52,607,217
JBrowse link
G RPL35A ribosomal protein L35a ISO mRNA:increased expression:brain (human) RGD PMID:10880769 RGD:11535077 NCBI chr33:28,741,796...28,745,043
Ensembl chr33:28,741,819...28,744,672
JBrowse link
G RPL5 ribosomal protein L5 ISO DNA:mutations:multiple (human) RGD PMID:26892688 RGD:11535147 NCBI chr 6:56,207,171...56,216,030
Ensembl chr 6:56,207,173...56,215,956
JBrowse link
G RUNX1 RUNX family transcription factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23582323 NCBI chr31:30,170,859...30,420,344
Ensembl chr31:30,170,605...30,420,839
JBrowse link
G RUNX3 RUNX family transcription factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16909125
G SEPTIN14 septin 14 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23917401 NCBI chr18:25,103,092...25,201,880
Ensembl chr18:25,121,175...25,202,140
JBrowse link
G SERPING1 serpin family G member 1 treatment ISO RGD PMID:28880870 RGD:13525003 NCBI chr18:38,570,354...38,580,751
Ensembl chr18:38,570,607...38,581,665
JBrowse link
G SLC22A10 solute carrier family 22 member 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30705370 NCBI chr18:53,597,148...53,628,569
Ensembl chr18:53,597,533...53,628,165
JBrowse link
G SLX4 SLX4 structure-specific endonuclease subunit ISO ClinVar Annotator: match by term: Glioblastoma multiforme ClinVar PMID:25741868 NCBI chr 6:37,648,297...37,666,584
Ensembl chr 6:37,647,976...37,703,190
JBrowse link
G SRRT serrate, RNA effector molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:30542699 NCBI chr 6:8,881,171...8,893,504
Ensembl chr 6:8,881,176...8,892,963
JBrowse link
G SUZ12 SUZ12 polycomb repressive complex 2 subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:25119042 NCBI chr 9:40,992,797...41,038,729
Ensembl chr 9:40,994,825...41,038,645
JBrowse link
G TES testin LIM domain protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:16909125 NCBI chr14:55,217,768...55,240,668
Ensembl chr14:55,177,375...55,240,668
JBrowse link
G TGM2 transglutaminase 2 ISO CTD Direct Evidence: marker/mechanism|therapeutic CTD PMID:16170020 PMID:17099729 NCBI chr24:26,631,339...26,662,723
Ensembl chr24:26,628,009...26,663,840
JBrowse link
G TMEM135 transmembrane protein 135 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30705370 NCBI chr21:12,410,128...12,698,099
Ensembl chr21:12,411,826...12,637,912
JBrowse link
G TNC tenascin C ISO RGD PMID:16928692 RGD:4889612 NCBI chr11:69,077,532...69,169,673
Ensembl chr11:69,077,535...69,170,281
JBrowse link
G TNFSF10 TNF superfamily member 10 ISO CTD Direct Evidence: therapeutic CTD PMID:21877938 NCBI chr34:36,719,249...36,734,989
Ensembl chr34:36,670,849...36,735,060
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 chr 5:32,561,406...32,565,149
Ensembl chr 5:32,560,598...32,574,109
JBrowse link
G TP53BP1 tumor protein p53 binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30705370 NCBI chr30:10,263,650...10,362,646
Ensembl chr30:10,263,650...10,336,134
JBrowse link
G TRMT11 tRNA methyltransferase 11 homolog ISO CTD Direct Evidence: marker/mechanism CTD PMID:30705370 NCBI chr 1:64,861,404...64,917,449
Ensembl chr 1:64,834,770...65,064,562
JBrowse link
G VEGFA vascular endothelial growth factor A ISO CTD Direct Evidence: marker/mechanism CTD PMID:16356833 NCBI chr12:12,209,032...12,224,978
Ensembl chr12:12,208,231...12,224,965
JBrowse link
G WT1 WT1 transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:20820871 NCBI chr18:35,099,660...35,148,767
Ensembl chr18:35,103,934...35,148,000
JBrowse link
G ZBTB7A zinc finger and BTB domain containing 7A ISO CTD Direct Evidence: marker/mechanism CTD PMID:25875864 NCBI chr20:55,517,531...55,527,071
Ensembl chr20:55,505,916...55,523,736
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 chr22:3,061,621...3,204,625
Ensembl chr22:3,063,239...3,257,726
JBrowse link
gliosarcoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CCL2 C-C motif chemokine ligand 2 severity ISO mouse gene in a rat model RGD PMID:7489565 RGD:11526112 NCBI chr 9:39,008,187...39,009,932 JBrowse link
G CYP2B6 cytochrome P450 2B11 ISO CTD Direct Evidence: therapeutic CTD PMID:9766669 PMID:11389073 NCBI chr 1:112,817,561...112,833,294
Ensembl chr 1:112,816,502...112,833,293
JBrowse link
G CYP2C18 cytochrome P450 2C21 ISO CTD Direct Evidence: therapeutic CTD PMID:9766669 NCBI chr28:8,727,010...8,750,427
Ensembl chr28:8,727,019...8,750,587
JBrowse link
G PLAU plasminogen activator, urokinase severity ISO mouse gene in rat model RGD PMID:20606645 RGD:7241591 NCBI chr 4:24,329,139...24,333,893
Ensembl chr 4:24,328,925...24,334,851
JBrowse link
G POR cytochrome p450 oxidoreductase ISO CTD Direct Evidence: therapeutic CTD PMID:9766669 NCBI chr 6:7,247,780...7,316,282
Ensembl chr 6:7,263,574...7,316,297
JBrowse link
G PTGS1 prostaglandin-endoperoxide synthase 1 ISO protein:increased expression:microglia, macrophage, RGD PMID:10229132 RGD:5688250 NCBI chr 9:60,195,118...60,216,847
Ensembl chr 9:60,195,124...60,216,819
JBrowse link
G PTGS2 prostaglandin-endoperoxide synthase 2 ISO protein:increased expression:endothelial cell RGD PMID:10229132 RGD:5688250 NCBI chr 7:19,668,079...19,674,903
Ensembl chr 7:19,668,082...19,674,903
JBrowse link
G VEGFA vascular endothelial growth factor A ISO CTD Direct Evidence: marker/mechanism CTD PMID:16533777 NCBI chr12:12,209,032...12,224,978
Ensembl chr12:12,208,231...12,224,965
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 chr36:3,743,257...3,818,659
Ensembl chr36:3,744,163...3,818,652
JBrowse link
G ADGRA2 adhesion G protein-coupled receptor A2 ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr16:27,547,722...27,583,069
Ensembl chr16:27,549,308...27,583,070
JBrowse link
G AKT2 AKT serine/threonine kinase 2 ISO protein:increased expression:cytoplasm (human) RGD PMID:19330838 RGD:2313297 NCBI chr 1:113,359,038...113,407,119
Ensembl chr 1:113,359,575...113,407,131
JBrowse link
G ANGPT2 angiopoietin 2 ISO protein:increased expression:brain (rat) RGD PMID:18615861 RGD:2314189 NCBI chr16:58,404,049...58,458,344
Ensembl chr16:58,405,259...58,457,701
JBrowse link
G APOD apolipoprotein D ISO CTD Direct Evidence: marker/mechanism CTD PMID:16865689 NCBI chr33:30,490,149...30,504,804
Ensembl chr33:30,488,135...30,509,289
JBrowse link
G ARAF A-Raf proto-oncogene, serine/threonine kinase disease_progression ISO RGD PMID:27852048 RGD:13702476 NCBI chr  X:41,180,082...41,191,579
Ensembl chr  X:41,180,250...41,191,310
JBrowse link
G AREG amphiregulin ISO RGD PMID:8621257 RGD:2292668 NCBI chr13:62,925,761...62,936,753
Ensembl chr13:62,926,301...62,936,738
JBrowse link
G ARHGAP32 Rho GTPase activating protein 32 ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr 5:5,398,833...5,690,041
Ensembl chr 5:5,380,831...5,686,840
JBrowse link
G ARID1B AT-rich interaction domain 1B ISO ClinVar Annotator: match by term: Astrocytoma ClinVar PMID:25741868 NCBI chr 1:46,370,621...46,800,531
Ensembl chr 1:46,372,767...46,799,104
JBrowse link
G ARL2 ADP ribosylation factor like GTPase 2 ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr18:52,169,225...52,175,782 JBrowse link
G ASPM assembly factor for spindle microtubules disease_progression ISO mRNA:increased expression:brain: RGD PMID:20142996 RGD:13442488 NCBI chr 7:5,591,530...5,663,673
Ensembl chr 7:5,590,957...5,660,919
JBrowse link
G ATG2A autophagy related 2A ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr18:52,258,070...52,277,953
Ensembl chr18:52,258,187...52,277,965
JBrowse link
G ATG7 autophagy related 7 treatment ISO RGD PMID:25542083 RGD:11557994 NCBI chr20:6,916,354...7,154,849
Ensembl chr20:6,916,515...7,154,800
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 5:24,180,129...24,297,207
Ensembl chr 5:24,182,135...24,297,207
JBrowse link
G ATP1B2 ATPase Na+/K+ transporting subunit beta 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16865689 NCBI chr 5:32,548,591...32,553,911
Ensembl chr 5:32,549,167...32,553,504
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:59,772,067...60,107,016
Ensembl chr  X:59,774,585...60,106,980
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 chr18:52,781,335...52,791,789
Ensembl chr18:52,781,921...52,791,405
JBrowse link
G BANP BTG3 associated nuclear protein ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr 5:65,151,863...65,256,782
Ensembl chr 5:65,152,247...65,256,667
JBrowse link
G BARHL1 BarH like homeobox 1 ISO protein:increased expression:brain: RGD PMID:28956815 RGD:14390165 NCBI chr 9:51,704,590...51,711,726
Ensembl chr 9:51,703,936...51,712,093
JBrowse link
G BATF2 basic leucine zipper ATF-like transcription factor 2 ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr18:52,176,681...52,196,365
Ensembl chr18:52,175,549...52,195,404
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 7:41,313,578...41,330,178
Ensembl chr 7:41,313,579...41,330,178
JBrowse link
G BDKRB2 bradykinin receptor B2 ISO mRNA:increased expression:brain RGD PMID:20080302 RGD:4891047 NCBI chr 8:64,974,588...65,005,682
Ensembl chr 8:64,974,997...65,003,407
JBrowse link
G BIRC5 baculoviral IAP repeat containing 5 ISO protein:increased expression:brain RGD PMID:17701349 RGD:2293131 NCBI chr 9:2,930,308...2,959,307 JBrowse link
G BMI1 BMI1 proto-oncogene, polycomb ring finger ISO CTD Direct Evidence: marker/mechanism CTD PMID:23383216 NCBI chr 2:10,818,232...10,828,473
Ensembl chr 2:10,818,232...10,833,613
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 chr16:8,222,909...8,318,179
Ensembl chr16:8,222,907...8,317,906
JBrowse link
G BRCA2 BRCA2 DNA repair associated ISO OMIM NCBI chr25:7,734,450...7,797,851
Ensembl chr25:7,734,453...7,797,815
JBrowse link
G BRD7 bromodomain containing 7 ISO protein:increased expression:brain: RGD PMID:24404152 RGD:9586441 NCBI chr 2:64,966,636...65,002,800
Ensembl chr 2:64,966,392...65,002,799
JBrowse link
G C3 complement C3 treatment ISO RGD PMID:21678475 RGD:7401275 NCBI chr20:53,566,226...53,598,365
Ensembl chr20:53,566,261...53,598,761
JBrowse link
G C5H11orf65 chromosome 5 C11orf65 homolog ISO ClinVar Annotator: match by term: Malignant glioma ClinVar PMID:8659541 PMID:8808599 PMID:9000145 PMID:9463314 PMID:10330348 More... NCBI chr 5:24,106,696...24,166,686
Ensembl chr 5:24,121,409...24,166,291
JBrowse link
G CACNG2 calcium voltage-gated channel auxiliary subunit gamma 2 ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr10:27,750,314...27,862,646
Ensembl chr10:27,750,935...27,862,885
JBrowse link
G CAMK2A calcium/calmodulin dependent protein kinase II alpha disease_progression ISO RGD PMID:29393370 RGD:13702478 NCBI chr 4:58,800,818...58,865,830
Ensembl chr 4:58,800,813...58,865,830
JBrowse link
G CAMKK2 calcium/calmodulin dependent protein kinase kinase 2 disease_progression ISO RGD PMID:27012733 RGD:13674178 NCBI chr26:7,848,191...7,895,317
Ensembl chr26:7,847,466...7,893,410
JBrowse link
G CAPN1 calpain 1 ISO ClinVar Annotator: match by term: Brainstem glioma ClinVar NCBI chr18:51,983,266...52,010,831
Ensembl chr18:51,983,824...52,010,757
JBrowse link
G CAT catalase ISO CTD Direct Evidence: marker/mechanism CTD PMID:21138464 NCBI chr18:33,383,005...33,422,447
Ensembl chr18:33,383,005...33,422,447
JBrowse link
G CATSPERZ catsper channel auxiliary subunit zeta ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr18:52,763,714...52,766,857 JBrowse link
G CAV1 caveolin 1 ISO RGD PMID:22528460 RGD:6784517 NCBI chr14:55,458,934...55,494,563
Ensembl chr14:55,461,048...55,492,935
JBrowse link
G CAV2 caveolin 2 ISO RGD PMID:22528460 RGD:6784517 NCBI chr14:55,437,622...55,445,481
Ensembl chr14:55,437,622...55,445,469
JBrowse link
G CCDC88B coiled-coil domain containing 88B ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr18:52,722,197...52,737,023
Ensembl chr18:52,708,838...52,736,728
JBrowse link
G CCND1 cyclin D1 susceptibility
disease_progression
ISO RGD PMID:21844184 PMID:22304571 RGD:13681930 RGD:13702091 NCBI chr18:48,501,905...48,509,684
Ensembl chr18:48,501,899...48,516,005
JBrowse link
G CCR4 C-C motif chemokine receptor 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17522861 NCBI chr23:3,844,072...3,847,770
Ensembl chr23:3,844,173...3,845,255
JBrowse link
G CD40 CD40 molecule treatment ISO RGD PMID:24878890 RGD:11352275 NCBI chr24:33,352,992...33,383,488
Ensembl chr24:33,372,930...33,383,301
JBrowse link
G CD80 CD80 molecule ISO RGD PMID:10078962 RGD:727266 NCBI chr33:23,177,136...23,208,421
Ensembl chr33:23,177,138...23,201,380
JBrowse link
G CDC42BPG CDC42 binding protein kinase gamma ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr18:52,319,363...52,338,531
Ensembl chr18:52,319,453...52,337,203
JBrowse link
G CDC42EP2 CDC42 effector protein 2 ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr18:51,854,975...51,863,594
Ensembl chr18:51,857,367...51,858,011
JBrowse link
G CDCA5 cell division cycle associated 5 ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr18:52,115,081...52,129,223
Ensembl chr18:52,115,203...52,120,817
JBrowse link
G CDK4 cyclin dependent kinase 4 disease_progression ISO RGD PMID:21844184 PMID:23761023 RGD:13702090 RGD:13702091 NCBI chr10:1,812,864...1,815,815
Ensembl chr10:1,812,886...1,815,789
JBrowse link
G CDK6 cyclin dependent kinase 6 severity ISO DNA:amplification: RGD PMID:9102208 PMID:22736304 RGD:13702093 RGD:13702094 NCBI chr14:18,178,352...18,413,869
Ensembl chr14:18,188,429...18,419,869
JBrowse link
G CDKN1A cyclin dependent kinase inhibitor 1A treatment
severity
ISO DNA:hypermethylation:promoter: RGD PMID:9144534 PMID:18791688 PMID:20844987 RGD:13702125 RGD:13702128 RGD:13702129 NCBI chr12:5,746,898...5,755,103
Ensembl chr12:5,745,852...5,892,281
JBrowse link
G CDKN2B cyclin dependent kinase inhibitor 2B ISO CTD Direct Evidence: marker/mechanism CTD PMID:19578366 PMID:19578367 NCBI chr11:41,259,627...41,264,832 JBrowse link
G CHAF1A chromatin assembly factor 1 subunit A susceptibility ISO DNA:SNP:intron:rs243356(human) RGD PMID:18048407 RGD:9587459 NCBI chr20:55,248,286...55,276,425
Ensembl chr20:55,248,288...55,276,900
JBrowse link
G CHAF1B chromatin assembly factor 1 subunit B disease_progression ISO protein:increased expression:brain: RGD PMID:24039914 RGD:9587472 NCBI chr31:31,599,840...31,620,436
Ensembl chr31:31,600,448...31,619,784
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 chr26:22,052,256...22,145,675
Ensembl chr26:21,427,961...22,240,624
JBrowse link
G CHI3L1 chitinase 3 like 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20506295 NCBI chr 7:25,620...32,954
Ensembl chr 7:26,316...33,427
JBrowse link
G CLCN2 chloride voltage-gated channel 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12843258 NCBI chr34:17,224,136...17,238,755
Ensembl chr34:17,223,215...17,239,621
JBrowse link
G CLCN3 chloride voltage-gated channel 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12843258 NCBI chr25:20,528,708...20,616,687
Ensembl chr25:20,528,699...20,615,070
JBrowse link
G CLCN5 chloride voltage-gated channel 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12843258 NCBI chr  X:42,705,789...42,860,701
Ensembl chr  X:42,704,627...42,853,812
JBrowse link
G CNTN2 contactin 2 severity ISO mRNA, protein:increased expression:brain (human) RGD PMID:11280781 RGD:734799 NCBI chr38:1,570,598...1,600,524
Ensembl chr38:1,576,898...1,596,621
JBrowse link
G COX8A cytochrome c oxidase subunit VIIIA (ubiquitous) ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr18:53,048,902...53,050,528
Ensembl chr18:53,048,902...53,050,528
JBrowse link
G CSF1 colony stimulating factor 1 ISO RGD PMID:15728459 RGD:2293641 NCBI chr 6:42,028,454...42,047,028
Ensembl chr 6:42,034,149...42,049,371
JBrowse link
G CTSB cathepsin B ISO RGD PMID:17287256 RGD:2315520 NCBI chr25:26,048,237...26,056,570
Ensembl chr25:26,048,253...26,055,801
JBrowse link
G CXCR3 C-X-C motif chemokine receptor 3 ISO RGD PMID:16434036 RGD:5135509 NCBI chr  X:55,882,433...55,884,582
Ensembl chr  X:55,882,433...55,884,582
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 chr28:41,079,164...41,089,188
Ensembl chr28:41,035,025...41,122,754
JBrowse link
G DCN decorin disease_progression ISO RGD PMID:15475879 RGD:2311425 NCBI chr15:31,833,492...31,887,699
Ensembl chr15:31,833,746...31,877,417
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:84,408,762...84,541,157
Ensembl chr  X:84,408,895...84,517,827
JBrowse link
G DEPDC5 DEP domain containing 5, GATOR1 subcomplex subunit ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr26:24,629,369...24,754,728
Ensembl chr26:24,630,295...24,754,256
JBrowse link
G DLA-64 MHC class I DLA-64 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14511464 NCBI chr12:983,573...986,969 JBrowse link
G DLK1 delta like non-canonical Notch ligand 1 ISO RGD PMID:16288219 RGD:1625600 NCBI chr 8:68,961,975...68,970,106
Ensembl chr 8:68,961,744...68,972,761
JBrowse link
G DMXL1 Dmx like 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16865689 NCBI chr11:8,435,939...8,563,525
Ensembl chr11:8,436,322...8,561,550
JBrowse link
G DNAJC4 DnaJ heat shock protein family (Hsp40) member C4 ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr18:52,825,099...52,829,069
Ensembl chr18:52,825,100...52,831,523
JBrowse link
G DPF2 double PHD fingers 2 ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr18:51,833,085...51,847,213
Ensembl chr18:51,833,070...51,847,087
JBrowse link
G DUSP29 dual specificity phosphatase 29 ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr 4:25,307,786...25,341,772 JBrowse link
G E2F3 E2F transcription factor 3 disease_progression ISO RGD PMID:28337965 RGD:13702470 NCBI chr35:19,012,646...19,086,674
Ensembl chr35:19,012,324...19,083,634
JBrowse link
G EFEMP1 EGF containing fibulin extracellular matrix protein 1 ISO protein:increased expression:brain: RGD PMID:19887559 RGD:10401656 NCBI chr10:56,632,801...56,694,872
Ensembl chr10:56,579,899...56,787,187
JBrowse link
G EFL1 elongation factor like GTPase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25015090 NCBI chr 3:55,720,949...55,840,873
Ensembl chr 3:55,711,048...55,840,888
JBrowse link
G EGF epidermal growth factor susceptibility ISO DNA:polymorphism:promoter:GG genotypes were associated with increased risk.
DNA:polymorphism:promoter:+61A>G(human)
RGD PMID:17473192 PMID:22106858 RGD:13702473 RGD:13702474 NCBI chr32:30,073,541...30,166,904
Ensembl chr32:30,073,950...30,166,295
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 chr18:5,983,669...6,044,092
Ensembl chr18:5,982,770...6,042,631
JBrowse link
G EHBP1L1 EH domain binding protein 1 like 1 ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr18:51,613,465...51,630,589
Ensembl chr18:51,614,425...51,630,315
JBrowse link
G EHD1 EH domain containing 1 ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr18:52,291,304...52,312,787
Ensembl chr18:52,291,327...52,311,526
JBrowse link
G ENTPD2 ectonucleoside triphosphate diphosphohydrolase 2 ISO RGD PMID:19558578 RGD:9685528 NCBI chr 9:48,589,408...48,594,852
Ensembl chr 9:48,570,891...48,594,452
JBrowse link
G EPHA5 EPH receptor A5 ISO ClinVar Annotator: match by term: Astrocytoma ClinVar PMID:25741868 NCBI chr13:56,054,247...56,402,583
Ensembl chr13:56,058,800...56,383,301
JBrowse link
G EPO erythropoietin ISO RGD PMID:21749867 RGD:10400910 NCBI chr 6:8,994,211...8,995,954
Ensembl chr 6:8,994,211...8,996,144
JBrowse link
G EPOR erythropoietin receptor ISO RGD PMID:21749867 RGD:10400910 NCBI chr20:49,945,777...49,950,856
Ensembl chr20:49,945,777...49,950,856
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 chr 9:22,760,373...22,785,367
Ensembl chr 9:22,759,256...22,785,294
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 1:110,130,353...110,146,660
Ensembl chr 1:110,130,481...110,146,602
JBrowse link
G ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit susceptibility ISO RGD PMID:11319176 RGD:10401082 NCBI chr 1:110,173,781...110,191,612
Ensembl chr 1:110,173,715...110,190,125
JBrowse link
G ESRRA estrogen related receptor alpha ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr18:52,755,547...52,762,938
Ensembl chr18:52,756,344...52,763,355
JBrowse link
G F2 coagulation factor II, thrombin treatment ISO RGD PMID:15975137 RGD:1578509 NCBI chr18:42,782,744...42,799,531
Ensembl chr18:42,782,751...42,799,459
JBrowse link
G FAM107A family with sequence similarity 107 member A ISO CTD Direct Evidence: marker/mechanism CTD PMID:16865689 NCBI chr20:32,047,132...32,099,815
Ensembl chr20:32,047,625...32,097,585
JBrowse link
G FAM89B family with sequence similarity 89 member B ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr18:51,632,509...51,634,218
Ensembl chr18:51,632,781...51,634,034
JBrowse link
G FAS Fas cell surface death receptor severity ISO mouse gene in a rat model RGD PMID:11440439 RGD:8663460 NCBI chr26:38,738,811...38,763,298
Ensembl chr26:38,737,611...38,763,321
JBrowse link
G FAU FAU ubiquitin like and ribosomal protein S30 fusion ISO ClinVar Annotator: match by term: Brainstem glioma ClinVar NCBI chr18:52,072,705...52,074,337
Ensembl chr18:52,072,796...52,074,336
JBrowse link
G FBXW7 F-box and WD repeat domain containing 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18931460 NCBI chr15:50,187,579...50,417,188
Ensembl chr15:50,189,240...50,417,195
JBrowse link
G FERMT3 FERM domain containing kindlin 3 ISO ClinVar Annotator: match by term: Brainstem glioma ClinVar NCBI chr18:52,833,954...52,851,775
Ensembl chr18:52,834,001...52,851,667
JBrowse link
G FGF2 fibroblast growth factor 2 ISO CTD Direct Evidence: therapeutic CTD PMID:10673511 NCBI chr19:17,403,288...17,463,143
Ensembl chr19:16,994,661...17,463,151
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 chr16:27,029,902...27,080,514
Ensembl chr16:27,031,588...27,078,261
JBrowse link
G FLRT1 fibronectin leucine rich transmembrane protein 1 ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr18:52,926,735...52,958,089
Ensembl chr18:52,927,572...52,929,659
JBrowse link
G FLT3LG fms related receptor tyrosine kinase 3 ligand treatment ISO RGD PMID:15564139 RGD:11049500 NCBI chr 1:107,015,222...107,025,181
Ensembl chr 1:107,015,223...107,024,708
JBrowse link
G FRMD8 FERM domain containing 8 ISO ClinVar Annotator: match by term: Brainstem glioma ClinVar NCBI chr18:51,782,664...51,807,343
Ensembl chr18:51,784,413...51,806,874
JBrowse link
G FTH1 ferritin heavy chain 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21385903 NCBI chr18:54,466,167...54,468,733
Ensembl chr18:54,466,023...54,468,732
JBrowse link
G GDNF glial cell derived neurotrophic factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:19138852 NCBI chr 4:70,966,694...70,991,860
Ensembl chr 4:70,971,432...70,989,714
JBrowse link
G GJA1 gap junction protein alpha 1 ISO RGD PMID:22808518 RGD:7207264 NCBI chr 1:60,941,772...60,944,694
Ensembl chr 1:60,929,097...60,942,936
JBrowse link
G GLB1 galactosidase beta 1 ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr23:3,721,768...3,814,209
Ensembl chr23:3,732,040...3,814,191
JBrowse link
G GPHA2 glycoprotein hormone subunit alpha 2 ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr18:52,211,748...52,244,591
Ensembl chr18:52,211,716...52,240,823
Ensembl chr18:52,211,716...52,240,823
JBrowse link
G GPR137 G protein-coupled receptor 137 ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr18:52,776,857...52,781,050
Ensembl chr18:52,776,858...52,779,783
JBrowse link
G GSTP1 glutathione S-transferase pi 1 susceptibility ISO CTD Direct Evidence: marker/mechanism
DNA:polymorphism:exon:p.I105V (rs1695) (human)
CTD
RGD
PMID:15006924 PMID:16899598 RGD:5490124 NCBI chr18:49,905,161...49,908,182
Ensembl chr18:49,905,161...49,908,182
JBrowse link
G H3-3A H3.3 histone A ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Brainstem glioma
CTD
ClinVar
PMID:22286216 PMID:23583981 PMID:26619011 NCBI chr 7:38,797,168...38,805,417
Ensembl chr 7:38,797,448...38,805,416
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 2:36,583,283...36,598,121
Ensembl chr 2:36,583,283...36,597,682
JBrowse link
G HELLS helicase, lymphoid specific severity ISO RGD PMID:28042322 RGD:13702468 NCBI chr28:8,660,866...8,705,570
Ensembl chr28:8,661,008...8,705,580
JBrowse link
G HGF hepatocyte growth factor disease_progression ISO protein:increased expression:brain: RGD PMID:12115353 RGD:8548633 NCBI chr18:21,329,688...21,410,257
Ensembl chr18:21,332,817...21,410,263
JBrowse link
G HMGB1 high mobility group box 1 treatment ISO RGD PMID:10830965 RGD:10402059 NCBI chr25:9,431,223...9,558,167
Ensembl chr25:9,431,218...9,558,165
JBrowse link
G HRAS HRas proto-oncogene, GTPase ISO CTD Direct Evidence: marker/mechanism CTD PMID:30619488 NCBI chr18:25,642,844...25,644,717
Ensembl chr18:25,642,844...25,644,717
JBrowse link
G HSD3B2 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr17:56,552,945...56,561,062
Ensembl chr17:56,552,945...56,561,062
JBrowse link
G HSPA5 heat shock protein family A (Hsp70) member 5 ISO protein:increased expression RGD PMID:21112319 RGD:5685704 NCBI chr 9:57,850,870...57,855,607
Ensembl chr 9:57,850,922...57,855,257
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 chr37:16,512,027...16,531,269
Ensembl chr37:16,512,770...16,531,219
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 3:53,070,462...53,077,566
Ensembl chr 3:53,070,695...53,087,496
JBrowse link
G IFNG interferon gamma ISO RGD PMID:10078962 RGD:727266 NCBI chr10:10,406,866...10,411,698
Ensembl chr10:10,406,867...10,411,698
JBrowse link
G IGF1 insulin like growth factor 1 severity ISO protein:increased expression:serum: RGD PMID:21788435 RGD:8548833 NCBI chr15:41,203,320...41,275,964
Ensembl chr15:41,202,518...41,275,794
JBrowse link
G IGF1R insulin like growth factor 1 receptor ISO DNA: SNP: : rs2272037 or rs2016347 RGD PMID:18562769 RGD:5686434 NCBI chr 3:41,795,337...42,096,255
Ensembl chr 3:41,794,623...42,090,387
JBrowse link
G IGFBP3 insulin like growth factor binding protein 3 severity ISO protein:increased expression:serum: RGD PMID:21788435 RGD:8548833 NCBI chr16:1,021,855...1,027,604
Ensembl chr16:1,021,972...1,026,392
JBrowse link
G IL10 interleukin 10 susceptibility ISO DNA:SNP: :rs1800896 (human) RGD PMID:20406895 RGD:4140470 NCBI chr 7:5,933,285...5,937,057
Ensembl chr 7:5,933,285...5,937,057
JBrowse link
G IL12A interleukin 12A ISO CTD Direct Evidence: therapeutic CTD PMID:18176109 NCBI chr34:26,125,529...26,133,546
Ensembl chr34:26,124,770...26,133,550
JBrowse link
G IL12B interleukin 12B ISO CTD Direct Evidence: therapeutic CTD PMID:18176109 NCBI chr 4:51,178,637...51,194,606
Ensembl chr 4:51,183,568...51,193,228
JBrowse link
G IL18 interleukin 18 treatment ISO RGD PMID:18725309 RGD:8657054 NCBI chr 5:20,972,742...20,995,327
Ensembl chr 5:20,972,871...20,995,348
JBrowse link
G IL2 interleukin 2 treatment ISO RGD PMID:12864971 RGD:8663439 NCBI chr19:17,750,780...17,756,394
Ensembl chr19:17,750,780...17,756,394
JBrowse link
G IL4 interleukin 4 treatment ISO RGD PMID:9973213 RGD:8142389 NCBI chr11:20,972,693...20,981,539
Ensembl chr11:20,972,690...20,981,534
JBrowse link
G IL7 interleukin 7 ISO RGD PMID:10078962 RGD:727266 NCBI chr29:26,384,493...26,422,586
Ensembl chr29:26,384,493...26,422,737
JBrowse link
G KAT6B lysine acetyltransferase 6B ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr 4:25,131,580...25,303,355
Ensembl chr 4:25,131,844...25,301,825
JBrowse link
G KCNK4 potassium two pore domain channel subfamily K member 4 ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr18:52,767,151...52,775,053
Ensembl chr18:52,767,414...52,773,369
JBrowse link
G KCNK7 potassium two pore domain channel subfamily K member 7 ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr18:51,609,373...51,613,802
Ensembl chr18:51,610,746...51,613,675
JBrowse link
G KDM5B lysine demethylase 5B disease_progression ISO RGD PMID:25450384 RGD:13702126 NCBI chr 7:336,452...415,568
Ensembl chr 7:330,705...412,386
JBrowse link
G KDR kinase insert domain receptor severity
disease_progression
ISO RGD PMID:10506722 PMID:20501615 RGD:5684393 RGD:5684425 NCBI chr13:47,442,861...47,484,574
Ensembl chr13:47,442,764...47,485,042
JBrowse link
G KLHL21 kelch like family member 21 ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr 5:60,415,493...60,427,301
Ensembl chr 5:60,413,552...60,427,609
JBrowse link
G KMT2D lysine methyltransferase 2D ISO ClinVar Annotator: match by term: Astrocytoma ClinVar PMID:25741868 NCBI chr27:5,516,866...5,556,303
Ensembl chr27:5,521,804...5,553,490
JBrowse link
G KRAS KRAS proto-oncogene, GTPase severity ISO RGD PMID:19435821 PMID:22207524 RGD:13702477 RGD:13702860 NCBI chr27:22,261,753...22,296,704
Ensembl chr27:22,257,941...22,293,369
JBrowse link
G KREMEN2 kringle containing transmembrane protein 2 ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr 6:38,214,853...38,218,679
Ensembl chr 6:38,215,221...38,218,299
JBrowse link
G LATS1 large tumor suppressor kinase 1 ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr 1:40,430,096...40,475,193
Ensembl chr 1:40,260,064...40,457,609
JBrowse link
G LETM1 leucine zipper and EF-hand containing transmembrane protein 1 ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr 3:62,268,027...62,304,767
Ensembl chr 3:62,267,708...62,302,136
JBrowse link
G LGALS3 galectin 3 disease_progression ISO RGD PMID:23179497 RGD:9685225 NCBI chr 8:30,977,438...30,994,711
Ensembl chr 8:30,983,633...30,994,705
JBrowse link
G LIG4 DNA ligase 4 ISO DNA:SNP: :rs1805388 (human) RGD PMID:23663450 RGD:13204718 NCBI chr22:56,980,333...56,987,636
Ensembl chr22:56,980,622...56,983,357
JBrowse link
G LOC100856339 phosphatidylinositol 3-kinase regulatory subunit gamma treatment ISO RGD PMID:28260020 RGD:13782053 NCBI chr15:14,222,059...14,357,200
Ensembl chr15:14,235,824...14,353,832
JBrowse link
G LOC479911 glutathione S-transferase Mu 3 ISO DNA: deletion: intron 6 RGD PMID:16598069 RGD:5688743 NCBI chr 6:42,187,869...42,191,274
Ensembl chr 6:42,187,967...42,191,273
JBrowse link
G LOC490422 GON-4-like protein ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr 7:41,927,667...42,000,649 JBrowse link
G LOC491316 midkine ISO CTD Direct Evidence: marker/mechanism CTD PMID:21233844 NCBI chr 9:55,100,491...55,101,081 JBrowse link
G LTA lymphotoxin alpha treatment ISO RGD PMID:1883913 RGD:1625042 NCBI chr12:1,070,608...1,073,053
Ensembl chr12:1,071,192...1,073,067
JBrowse link
G LTBP3 latent transforming growth factor beta binding protein 3 ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr18:51,653,783...51,667,793
Ensembl chr18:51,659,098...51,667,433
JBrowse link
G MACROD1 mono-ADP ribosylhydrolase 1 ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr18:52,883,335...53,033,490
Ensembl chr18:52,883,362...53,162,034
JBrowse link
G MAP2K1 mitogen-activated protein kinase kinase 1 ISO RGD PMID:21057530 RGD:13702863 NCBI chr30:30,683,192...30,760,479
Ensembl chr30:30,683,107...30,760,479
JBrowse link
G MAP3K11 mitogen-activated protein kinase kinase kinase 11 ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr18:51,593,641...51,609,245
Ensembl chr18:51,594,274...51,608,696
JBrowse link
G MAP4K2 mitogen-activated protein kinase kinase kinase kinase 2 ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr18:52,353,606...52,367,065
Ensembl chr18:52,353,232...52,366,712
JBrowse link
G MAP4K3 mitogen-activated protein kinase kinase kinase kinase 3 ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr17:31,253,632...31,439,148
Ensembl chr17:31,254,941...31,439,118
JBrowse link
G MAPK3 mitogen-activated protein kinase 3 ISO RGD PMID:27256374 RGD:13702865 NCBI chr 6:18,109,184...18,115,728
Ensembl chr 6:18,109,222...18,114,425
JBrowse link
G MARK2 microtubule affinity regulating kinase 2 ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr18:53,101,635...53,125,636
Ensembl chr18:53,101,624...53,151,561
JBrowse link
G MEN1 menin 1 ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr18:52,346,747...52,352,884
Ensembl chr18:52,346,933...52,353,340
JBrowse link
G MET MET proto-oncogene, receptor tyrosine kinase ISO protein:increased expression:brain, glioma (rat) RGD PMID:18194445 RGD:2317467 NCBI chr14:55,599,047...55,711,626
Ensembl chr14:55,598,337...55,724,027
JBrowse link
G MGMT O-6-methylguanine-DNA methyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16033832 PMID:16899598 PMID:19901110 NCBI chr28:38,204,611...38,427,482
Ensembl chr28:38,204,610...38,427,380
JBrowse link
G MIR192 microRNA mir-192 ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr18:52,281,129...52,281,193
Ensembl chr18:52,281,129...52,281,193
JBrowse link
G MKI67 marker of proliferation Ki-67 ISO RGD PMID:22262719 RGD:6483547 NCBI chr28:36,920,679...36,939,336
Ensembl chr28:36,913,023...36,939,486
JBrowse link
G MMP2 matrix metallopeptidase 2 treatment ISO RGD PMID:19292920 RGD:8657080 NCBI chr 2:60,471,092...60,492,991
Ensembl chr 2:60,471,257...60,494,113
JBrowse link
G MRPL49 mitochondrial ribosomal protein L49 ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr18:52,068,576...52,072,642
Ensembl chr18:52,069,605...52,072,591
JBrowse link
G MT-ND4 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr MT:10,201...11,578
Ensembl chr MT:10,201...11,578
JBrowse link
G MTOR mechanistic target of rapamycin kinase severity ISO RGD PMID:20878445 RGD:13702868 NCBI chr 2:84,818,893...84,939,283
Ensembl chr 2:84,787,708...84,939,114
JBrowse link
G MYB MYB proto-oncogene, transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:23583981 PMID:26829751 NCBI chr 1:27,908,309...27,991,984
Ensembl chr 1:27,908,364...27,991,969
JBrowse link
G MYBL1 MYB proto-oncogene like 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23583981 NCBI chr29:16,155,867...16,192,814
Ensembl chr29:16,157,821...16,192,808
JBrowse link
G MYLK myosin light chain kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:10232591 NCBI chr33:26,663,991...26,867,370
Ensembl chr33:26,664,800...26,843,181
JBrowse link
G NAA40 N-alpha-acetyltransferase 40, NatD catalytic subunit ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr18:53,054,662...53,077,156
Ensembl chr18:53,048,903...53,069,496
JBrowse link
G NAALADL1 N-acetylated alpha-linked acidic dipeptidase like 1 ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr18:52,136,258...52,148,462
Ensembl chr18:52,136,358...52,148,674
JBrowse link
G NADSYN1 NAD synthetase 1 susceptibility ISO RGD PMID:22740028 RGD:13703114 NCBI chr18:47,216,547...47,254,582
Ensembl chr18:47,216,577...47,254,514
JBrowse link
G NDRG4 NDRG family member 4 disease_progression ISO protein:decreased expression:brain RGD PMID:22399192 RGD:7247727 NCBI chr 2:58,144,113...58,160,885
Ensembl chr 2:58,144,105...58,183,470
JBrowse link
G NET1 neuroepithelial cell transforming 1 ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr 2:30,450,946...30,463,280
Ensembl chr 2:30,450,965...30,492,074
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 chr 9:41,467,460...41,679,388
Ensembl chr 9:41,469,416...41,679,382
JBrowse link
G NF2 neurofibromin 2 ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr26:22,816,869...22,896,103
Ensembl chr26:22,816,551...22,894,196
JBrowse link
G NOS3 nitric oxide synthase 3 ISO protein:increased expression:blood vessel endothelial cell RGD PMID:14672505 RGD:2292080 NCBI chr16:15,054,196...15,072,454
Ensembl chr16:15,011,344...15,072,277
JBrowse link
G NRXN2 neurexin 2 ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr18:52,439,836...52,537,577
Ensembl chr18:52,439,230...52,536,401
JBrowse link
G NTRK1 neurotrophic receptor tyrosine kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24705251 NCBI chr 7:41,140,931...41,159,326
Ensembl chr 7:41,140,879...41,159,288
JBrowse link
G NTRK2 neurotrophic receptor tyrosine kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24705251 NCBI chr 1:74,447,927...74,777,910
Ensembl chr 1:74,449,060...74,777,032
JBrowse link
G NTRK3 neurotrophic receptor tyrosine kinase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24705251 NCBI chr 3:51,131,470...51,491,112
Ensembl chr 3:51,138,751...51,513,024
JBrowse link
G NUDT22 nudix hydrolase 22 ISO ClinVar Annotator: match by term: Brainstem glioma ClinVar NCBI chr18:52,828,973...52,831,550
Ensembl chr18:52,829,015...52,831,787
JBrowse link
G OTUB1 OTU deubiquitinase, ubiquitin aldehyde binding 1 ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr 3:40,225,531...40,226,507
Ensembl chr 3:40,225,474...40,226,612
Ensembl chr18:40,225,474...40,226,612
JBrowse link
G OTUD5 OTU deubiquitinase 5 ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr  X:42,079,396...42,109,129
Ensembl chr  X:42,081,561...42,108,612
JBrowse link
G PATZ1 POZ/BTB and AT hook containing zinc finger 1 ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr26:24,277,719...24,296,440
Ensembl chr26:24,278,802...24,296,154
JBrowse link
G PCMT1 protein-L-isoaspartate (D-aspartate) O-methyltransferase ISO mRNA:decreased expression:brain: RGD PMID:15857672 RGD:10448283 NCBI chr 1:40,494,441...40,539,453
Ensembl chr 1:40,494,461...40,538,937
JBrowse link
G PCNX3 pecanex 3 ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr18:51,572,004...51,592,811
Ensembl chr18:51,571,452...51,592,104
JBrowse link
G PDAP1 PDGFA associated protein 1 severity ISO RGD PMID:27448842 RGD:13702895 NCBI chr 6:10,178,327...10,189,169
Ensembl chr 6:10,178,354...10,188,627
JBrowse link
G PDGFA platelet derived growth factor subunit A ISO in a mouse model RGD PMID:21490965 RGD:13702894 NCBI chr 6:16,271,082...16,293,246
Ensembl chr 6:16,270,104...16,292,396
JBrowse link
G PDGFB platelet derived growth factor subunit B severity ISO RGD PMID:21677873 PMID:26945107 PMID:27448842 RGD:13702895 RGD:13702896 RGD:13702897 NCBI chr10:25,798,877...25,819,422
Ensembl chr10:25,798,938...25,817,746