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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, beta ISO spondylocarpotarsal syndrome,OMIM:272460;DNA:frameshift:6408delC,DNA:point mutation:exons:R818X,R1607X RGD PMID:14991055 RGD:1601168 NCBI chr14:7,817,921...7,951,588
Ensembl chr14:7,817,957...7,951,588
JBrowse link
G Penk preproenkephalin ISO mRNA:increased expression:hypothalamus: RGD PMID:11501038 RGD:10003114 NCBI chr 4:4,133,536...4,138,815
Ensembl chr 4:4,133,531...4,138,819
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
IEA
ClinVar Annotator: match by term: Achondrogenesis, type IA
OMIM:200600
ClinVar Annotator: match by OMIM:200600
OMIM
ClinVar
MouseDO
PMID:200899 PMID:2008997 PMID:20089971 PMID:24033266 PMID:25741868 PMID:28492532 PMID:29872333 PMID:30728324 NCBI chr12:101,834,045...101,913,171
Ensembl chr12:101,834,043...101,913,267
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 ISO
IEA
ClinVar Annotator: match by term: Chondrogenesis imperfecta
ClinVar Annotator: match by term: Achondrogenesis type II
ClinVar Annotator: match by term: Achondrogenesis, type II
OMIM:200610
ClinVar Annotator: match by OMIM:200610
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
MouseDO
CTD
PMID:7741714 PMID:7752132 PMID:7757081 PMID:7829510 PMID:8325895 PMID:9101290 PMID:10982970 PMID:11007540 PMID:12429249 PMID:12939326 PMID:15054848 PMID:17994563 PMID:20179744 PMID:22496037 PMID:22522174 PMID:23592912 PMID:25741868 PMID:26747767 PMID:27390512 PMID:28492532 PMID:28559085 PMID:29453956 PMID:30181686 NCBI chr15:97,975,602...98,004,724
Ensembl chr15:97,975,602...98,004,695
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
IEA
ClinVar Annotator: match by term: Acromesomelic dysplasia, Maroteaux type
ClinVar Annotator: match by term: Acromesomelic dysplasia Maroteaux type
OMIM:602875
ClinVar Annotator: match by OMIM:602875
OMIM
ClinVar
MouseDO
PMID:15146390 PMID:16384845 PMID:23065701 PMID:24001744 PMID:24471569 PMID:25703509 PMID:25741868 PMID:25959430 PMID:26075495 PMID:26284228 PMID:27994189 PMID:28492532 PMID:31990356 NCBI chr 4:43,629,015...43,651,437
Ensembl chr 4:43,631,935...43,651,244
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:25741868 PMID:28492532 NCBI chr 4:43,651,330...43,653,594
Ensembl chr 4:43,651,335...43,653,594
JBrowse link
Adult Cerebral Astrocytoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mmp1a matrix metallopeptidase 1a (interstitial collagenase) susceptibility ISO DNA:insertion:promoter:g.-1607insG (human) RGD PMID:17502998 RGD:7207034 NCBI chr 9:7,464,141...7,476,869
Ensembl chr 9:7,464,141...7,476,869
JBrowse link
G Mmp1b matrix metallopeptidase 1b (interstitial collagenase) susceptibility ISO DNA:insertion:promoter:g.-1607insG (human) RGD PMID:17502998 RGD:7207034 NCBI chr 9:7,367,670...7,388,026
Ensembl chr 9:7,368,239...7,388,047
JBrowse link
adult pineal parenchymal tumor term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mki67 antigen identified by monoclonal antibody Ki 67 severity ISO RGD PMID:21696422 RGD:6483520 NCBI chr 7:135,689,784...135,716,450
Ensembl chr 7:135,689,784...135,716,361
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 chr 2:160,946,978...161,109,086
Ensembl chr 2:160,946,978...161,109,075
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 PMID:24728327 PMID:25741868 PMID:26467025 PMID:28293299 PMID:28492530 PMID:28492532 PMID:29304373 PMID:29602769 PMID:29910053 NCBI chr  X:105,797,615...105,929,372
Ensembl chr  X:105,797,615...105,929,403
JBrowse link
G Kras Kirsten rat sarcoma viral oncogene homolog ISO mRNA:decreased expression:brain RGD PMID:19179066 RGD:13702872 NCBI chr 6:145,216,699...145,250,420
Ensembl chr 6:145,216,699...145,250,239
JBrowse link
G Trp53 transformation related protein 53 ISO ClinVar Annotator: match by term: Astrocytoma, anaplastic ClinVar PMID:1349175 PMID:1565143 PMID:1565144 PMID:1591732 PMID:7565304 PMID:7783166 PMID:8401536 PMID:8550239 PMID:8718514 PMID:8829627 PMID:9218725 PMID:9242456 PMID:9364015 PMID:9667734 PMID:10519380 PMID:10922393 PMID:11370630 PMID:12826609 PMID:12885464 PMID:12917626 PMID:15722483 PMID:15925506 PMID:15951970 PMID:16401470 PMID:16494995 PMID:16551709 PMID:17015838 PMID:17311302 PMID:17606709 PMID:18511570 PMID:19012332 PMID:19468865 PMID:20128691 PMID:20522432 PMID:21059199 PMID:21305319 PMID:21343334 PMID:21761402 PMID:22672556 PMID:23161690 PMID:23538418 PMID:24033266 PMID:24122735 PMID:24573247 PMID:24835218 PMID:25157968 PMID:25584008 PMID:25619955 PMID:25741868 PMID:26014290 PMID:26205489 PMID:26225655 PMID:26619011 PMID:26786923 PMID:26845104 PMID:26878390 PMID:26911350 PMID:27077130 PMID:27621308 PMID:28472496 PMID:28492532 PMID:28975465 PMID:29581140 PMID:29979965 PMID:30224644 PMID:30816478 PMID:32000721 NCBI chr11:69,580,348...69,591,873
Ensembl chr11:69,580,359...69,591,873
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 PMID:26689913 PMID:27616075 PMID:28492532 PMID:28678401 PMID:31636395 NCBI chr 7:122,107,262...122,132,980
Ensembl chr 7:122,107,262...122,132,985
JBrowse link
G Rnf213 ring finger protein 213 ISO ClinVar Annotator: match by term: Anaplastic ependymoma ClinVar PMID:26822237 NCBI chr11:119,389,950...119,487,418
Ensembl chr11:119,393,100...119,487,418
JBrowse link
G Runx1 runt related transcription factor 1 ISO ClinVar Annotator: match by term: Anaplastic ependymoma ClinVar PMID:25741868 PMID:28492532 NCBI chr16:92,601,466...92,826,074
Ensembl chr16:92,601,466...92,826,149
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 7:25,267,658...25,294,159
Ensembl chr 7:25,267,704...25,294,159
JBrowse link
anauxetic dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 1700022I11Rik RIKEN cDNA 1700022I11 gene ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 4:42,969,946...42,974,325
Ensembl chr 4:42,969,604...42,983,640
JBrowse link
G Arhgef39 Rho guanine nucleotide exchange factor (GEF) 39 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 4:43,496,139...43,508,747
Ensembl chr 4:43,496,142...43,499,695
JBrowse link
G Car9 carbonic anhydrase 9 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 4:43,507,026...43,513,729
Ensembl chr 4:43,506,966...43,513,729
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 PMID:11940090 PMID:12107819 PMID:12888988 PMID:14569119 PMID:16097009 PMID:16254002 PMID:16838329 PMID:17701897 PMID:25741868 PMID:28094436 PMID:28492532 NCBI chr 4:43,493,340...43,495,921
Ensembl chr 4:43,492,900...43,495,921
JBrowse link
G Ccin calicin ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 4:43,983,504...43,985,533
Ensembl chr 4:43,983,483...43,985,423
JBrowse link
G Ccl19 chemokine (C-C motif) ligand 19 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 4:42,754,525...42,756,365
Ensembl chr 4:42,754,525...42,756,577
JBrowse link
G Ccl21a chemokine (C-C motif) ligand 21A (serine) ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 4:42,772,860...42,773,991
Ensembl chr 4:42,772,860...42,773,993
JBrowse link
G Ccl27a chemokine (C-C motif) ligand 27A ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 4:41,769,467...41,774,225
Ensembl chr 4:41,769,467...41,774,247
JBrowse link
G Cd72 CD72 antigen ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 4:43,447,724...43,455,102
Ensembl chr 4:43,446,462...43,454,628
JBrowse link
G Clta clathrin, light polypeptide (Lca) ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 4:44,003,816...44,032,846
Ensembl chr 4:44,004,452...44,032,846
JBrowse link
G Creb3 cAMP responsive element binding protein 3 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 4:43,562,658...43,567,061
Ensembl chr 4:43,562,332...43,567,060
JBrowse link
G Dnajb5 DnaJ heat shock protein family (Hsp40) member B5 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 4:42,949,867...42,959,425
Ensembl chr 4:42,949,814...42,959,425
JBrowse link
G Fam166b family with sequence similarity 166, member B ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 4:43,427,014...43,432,131
Ensembl chr 4:43,427,019...43,429,134
JBrowse link
G Fam205a1 family with sequence similarity 205, member A1 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 4:42,848,067...42,859,820
Ensembl chr 4:42,848,071...42,853,888
JBrowse link
G Fam205c family with sequence similarity 205, member C ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 4:42,868,003...42,874,246
Ensembl chr 4:42,868,004...42,874,234
JBrowse link
G Fam214b family with sequence similarity 214, member B ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 4:43,032,414...43,046,220
Ensembl chr 4:43,032,414...43,046,220
JBrowse link
G Fam221b family with sequence similarity 221, member B ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 4:43,659,622...43,668,859
Ensembl chr 4:43,659,622...43,669,145
JBrowse link
G Fancg Fanconi anemia, complementation group G ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 4:43,002,337...43,010,567
Ensembl chr 4:43,002,343...43,010,506
JBrowse link
G Galt galactose-1-phosphate uridyl transferase ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 4:41,755,517...41,759,243
Ensembl chr 4:41,755,228...41,758,695
JBrowse link
G Gba2 glucosidase beta 2 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 4:43,566,928...43,578,886
Ensembl chr 4:43,566,928...43,578,873
JBrowse link
G Glipr2 GLI pathogenesis-related 2 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 4:43,957,702...43,979,118
Ensembl chr 4:43,957,401...43,979,118
JBrowse link
G Gm21586 predicted gene, 21586 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 4:42,438,686...42,448,653
Ensembl chr 4:42,438,970...42,439,970
JBrowse link
G Gne glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 4:44,034,075...44,084,177
Ensembl chr 4:44,034,075...44,084,177
JBrowse link
G Hint2 histidine triad nucleotide binding protein 2 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 4:43,654,227...43,656,445
Ensembl chr 4:43,654,227...43,656,466
JBrowse link
G Hrct1 histidine rich carboxyl terminus 1 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 4:43,727,198...43,728,110
Ensembl chr 4:43,727,188...43,728,639
JBrowse link
G Il11ra1 interleukin 11 receptor, alpha chain 1 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 4:41,760,443...41,769,473
Ensembl chr 4:41,699,989...41,769,474
JBrowse link
G Msmp microseminoprotein, prostate associated ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 4:43,583,216...43,584,494
Ensembl chr 4:43,583,216...43,584,494
JBrowse link
G Npr2 natriuretic peptide receptor 2 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 4:43,629,015...43,651,437
Ensembl chr 4:43,631,935...43,651,244
JBrowse link
G Olfr155 olfactory receptor 155 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 4:43,854,292...43,855,463
Ensembl chr 4:43,851,565...43,857,595
JBrowse link
G Olfr71 olfactory receptor 71 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 4:43,705,628...43,706,566
Ensembl chr 4:43,704,562...43,710,255
JBrowse link
G Phf24 PHD finger protein 24 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 4:42,872,618...42,944,752
Ensembl chr 4:42,916,660...42,944,752
JBrowse link
G Pigo phosphatidylinositol glycan anchor biosynthesis, class O ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 4:43,017,626...43,027,696
Ensembl chr 4:43,017,635...43,025,819
JBrowse link
G Reck reversion-inducing-cysteine-rich protein with kazal motifs ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 4:43,875,521...43,944,806
Ensembl chr 4:43,875,530...43,944,806
JBrowse link
G Rgp1 RAB6A GEF compex partner 1 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 4:43,578,735...43,587,487
Ensembl chr 4:43,578,715...43,587,487
JBrowse link
G Rmrp RNA component of mitochondrial RNAase P ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:4608646 PMID:8034306 PMID:9156319 PMID:10026268 PMID:11006544 PMID:11207361 PMID:11701897 PMID:11940090 PMID:12107819 PMID:12888988 PMID:14569119 PMID:14569125 PMID:14608646 PMID:15096576 PMID:15780958 PMID:16097009 PMID:16244706 PMID:16254002 PMID:16630949 PMID:16832578 PMID:16838329 PMID:17015150 PMID:17189938 PMID:17489853 PMID:17701897 PMID:17937437 PMID:18164267 PMID:18804272 PMID:19626344 PMID:20112607 PMID:20375313 PMID:21063072 PMID:21146796 PMID:21396580 PMID:21570718 PMID:21956908 PMID:24217815 PMID:25616543 PMID:25663137 PMID:25741868 PMID:26279652 PMID:26915675 PMID:27569544 PMID:27862957 PMID:28094436 PMID:28492532 PMID:28743979 PMID:29744913 NCBI chr 4:43,492,785...43,493,059
Ensembl chr 4:43,492,783...43,493,063
Ensembl chr 4:43,492,783...43,493,063
JBrowse link
G Rusc2 RUN and SH3 domain containing 2 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 4:43,377,202...43,427,092
Ensembl chr 4:43,381,979...43,427,088
JBrowse link
G Sit1 suppression inducing transmembrane adaptor 1 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 4:43,482,083...43,483,709
Ensembl chr 4:43,482,081...43,483,734
JBrowse link
G Spaar small regulatory polypeptide of amino acid response ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 4:43,730,034...43,734,534
Ensembl chr 4:43,730,034...43,759,462
JBrowse link
G Spag8 sperm associated antigen 8 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 4:43,651,330...43,653,594
Ensembl chr 4:43,651,335...43,653,594
JBrowse link
G Stoml2 stomatin (Epb7.2)-like 2 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 4:43,027,690...43,031,976
Ensembl chr 4:43,027,690...43,031,710
JBrowse link
G Tesk1 testis specific protein kinase 1 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 4:43,442,277...43,448,075
Ensembl chr 4:43,441,939...43,448,064
JBrowse link
G Tln1 talin 1 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 4:43,531,513...43,562,583
Ensembl chr 4:43,531,519...43,562,691
JBrowse link
G Tmem8b transmembrane protein 8B ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 4:43,668,971...43,692,668
Ensembl chr 4:43,668,971...43,692,668
JBrowse link
G Tpm2 tropomyosin 2, beta ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 4:43,513,726...43,523,583
Ensembl chr 4:43,514,711...43,523,765
JBrowse link
G Unc13b unc-13 homolog B ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 4:43,046,193...43,264,873
Ensembl chr 4:43,058,953...43,264,871
JBrowse link
G Vcp valosin containing protein ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 4:42,979,964...43,000,507
Ensembl chr 4:42,979,963...43,000,507
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 PMID:11940090 PMID:12107819 PMID:12888988 PMID:14569119 PMID:16097009 PMID:16254002 PMID:16838329 PMID:17701897 PMID:25741868 PMID:28094436 PMID:28492532 NCBI chr 4:43,493,340...43,495,921
Ensembl chr 4:43,492,900...43,495,921
JBrowse link
G Pop1 processing of precursor 1, ribonuclease P/MRP family, (S. cerevisiae) ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr15:34,495,311...34,530,653
Ensembl chr15:34,495,304...34,530,648
JBrowse link
G Rmrp RNA component of mitochondrial RNAase P ISO ClinVar Annotator: match by term: Anauxetic dysplasia 1 OMIM
ClinVar
PMID:8034306 PMID:8723091 PMID:9156319 PMID:10026268 PMID:11006544 PMID:11207361 PMID:11370632 PMID:11940090 PMID:12107819 PMID:12888988 PMID:14569119 PMID:14569125 PMID:16097009 PMID:16244706 PMID:16252239 PMID:16254002 PMID:16838329 PMID:17189938 PMID:17701897 PMID:20375313 PMID:25741868 PMID:28094436 PMID:28492532 NCBI chr 4:43,492,785...43,493,059
Ensembl chr 4:43,492,783...43,493,063
Ensembl chr 4:43,492,783...43,493,063
JBrowse link
anauxetic dysplasia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pop1 processing of precursor 1, ribonuclease P/MRP family, (S. cerevisiae) ISO ClinVar Annotator: match by term: ANAUXETIC DYSPLASIA 2
ClinVar Annotator: match by term: Anauxetic dysplasia 2
ClinVar
OMIM
PMID:21455487 PMID:25741868 PMID:27380734 PMID:28067412 NCBI chr15:34,495,311...34,530,653
Ensembl chr15:34,495,304...34,530,648
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 ClinVar Annotator: match by term: ANAUXETIC DYSPLASIA 3 ClinVar
OMIM
PMID:26633546 PMID:29620724 PMID:31250547 NCBI chr16:44,724,301...44,738,856
Ensembl chr16:44,724,301...44,737,284
JBrowse link
ankylosing spondylitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ace angiotensin I converting enzyme (peptidyl-dipeptidase A) 1 susceptibility ISO DNA:deletion:intron:IVS16+1464-1751del (human) RGD PMID:22876137 RGD:7829800 NCBI chr11:105,967,948...105,989,964
Ensembl chr11:105,967,945...105,989,964
JBrowse link
G Adipoq adiponectin, C1Q and collagen domain containing ISO protein:increased expression:serum RGD PMID:21122270 RGD:5686891 NCBI chr16:23,146,536...23,157,968
Ensembl chr16:23,146,536...23,158,028
JBrowse link
G Ano6 anoctamin 6 severity ISO DNA:SNP: :rs17095830(human)
CTD Direct Evidence: marker/mechanism
CTD PMID:22138694, PMID:23308121 RGD:9684849 NCBI chr15:95,790,843...95,975,472
Ensembl chr15:95,790,843...95,974,751
JBrowse link
G Antxr2 anthrax toxin receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20062062 PMID:21743469 NCBI chr 5:97,884,688...98,031,017
Ensembl chr 5:97,882,783...98,031,043
JBrowse link
G Aspn asporin susceptibility ISO DNA:repeats:exon: RGD PMID:20144272 RGD:9684964 NCBI chr13:49,544,443...49,567,565
Ensembl chr13:49,544,443...49,567,565
JBrowse link
G Card9 caspase recruitment domain family, member 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21743469 NCBI chr 2:26,352,187...26,360,945
Ensembl chr 2:26,352,176...26,360,918
JBrowse link
G Crp C-reactive protein, pentraxin-related disease_progression ISO protein:increased expression:serum: RGD PMID:22422197, PMID:6605119 RGD:6482308, RGD:9491788 NCBI chr 1:172,698,056...172,699,966
Ensembl chr 1:172,698,055...172,833,031
JBrowse link
G Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 ISO DNA:polymorphism: :4887C>A (human) RGD PMID:12880680 RGD:1581252 NCBI chr 9:57,687,928...57,703,824
Ensembl chr 9:57,687,928...57,703,824
JBrowse link
G Erap1 endoplasmic reticulum aminopeptidase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17952073 PMID:20062062 PMID:21743469 PMID:23291587 NCBI chr13:74,639,573...74,693,205
Ensembl chr13:74,639,568...74,693,201
JBrowse link
G Fcgr4 Fc receptor, IgG, low affinity IV severity ISO protein:decreased expression:polymorphonuclear leucocyte RGD PMID:8453794 RGD:5508388 NCBI chr 1:171,018,926...171,029,761
Ensembl chr 1:171,018,920...171,029,761
JBrowse link
G H2-Aa histocompatibility 2, class II antigen A, alpha severity ISO DNA:polymorphism:cds:HLA-DQA1*0401 (human) RGD PMID:19565552 RGD:5147611 NCBI chr17:34,282,744...34,287,823
Ensembl chr17:34,282,744...34,287,823
JBrowse link
G H2-Ab1 histocompatibility 2, class II antigen A, beta 1 severity ISO DNA:polymorphism:cds:HLA-DQB1*0603 (human) RGD PMID:19565552 RGD:5147611 NCBI chr17:34,263,227...34,269,418
Ensembl chr17:34,257,689...34,269,419
JBrowse link
G H2-Eb1 histocompatibility 2, class II antigen E beta severity ISO DNA:polymorphisms:cds:HLA-DRB1*0801, HLA-DRB1*0804 (human) RGD PMID:19565552 RGD:5147611 NCBI chr17:34,305,867...34,316,674
Ensembl chr17:34,305,867...34,316,674
JBrowse link
G H2-M2 histocompatibility 2, M region locus 2 susceptibility
no_association
ISO CTD Direct Evidence: marker/mechanism
DNA:polymorphisms:cds:HLA-B27, HLA-B60 (human, Caucasian)
DNA:polymorphism:cds:HLA-B2705 (human)
CTD
RGD
PMID:8053961 PMID:8733445 PMID:21743469 PMID:21927904 PMID:22138694 RGD:10755579 RGD:7364914 NCBI chr17:37,480,851...37,483,554
Ensembl chr17:37,480,851...37,483,552
JBrowse link
G H2-Q4 histocompatibility 2, Q region locus 4 susceptibility ISO DNA:polymorphisms:cds:HLA-B27, HLA-B60 (human, Caucasian) RGD PMID:8733445 RGD:7364914 NCBI chr17:35,379,617...35,384,674
Ensembl chr17:35,379,617...35,385,290
JBrowse link
G Igfbp3 insulin-like growth factor binding protein 3 ISO protein:decreased expression:serum RGD PMID:9851264 RGD:10402573 NCBI chr11:7,206,086...7,215,498
Ensembl chr11:7,206,086...7,213,923
JBrowse link
G Il12b interleukin 12b ISO CTD Direct Evidence: marker/mechanism CTD PMID:21743469 NCBI chr11:44,400,063...44,414,677
Ensembl chr11:44,400,063...44,414,033
JBrowse link
G Il17a interleukin 17A treatment ISO RGD PMID:24035250 RGD:9068448 NCBI chr 1:20,730,905...20,734,496
Ensembl chr 1:20,730,905...20,734,496
JBrowse link
G Il1r2 interleukin 1 receptor, type II ISO CTD Direct Evidence: marker/mechanism CTD PMID:20062062 NCBI chr 1:40,084,692...40,125,230
Ensembl chr 1:40,074,079...40,125,231
JBrowse link
G Il23r interleukin 23 receptor no_association ISO DNA:SNPs,haplotype:multiple:
CTD Direct Evidence: marker/mechanism
DNA:SNP: :rs11209026(human)
CTD PMID:17952073 PMID:20062062, PMID:19522770, PMID:19877036 RGD:8549549, RGD:8549630 NCBI chr 6:67,422,932...67,491,855
Ensembl chr 6:67,422,932...67,491,855
JBrowse link
G Il6 interleukin 6 ISO protein:increased expression:serum: RGD PMID:26339141 RGD:12792209 NCBI chr 5:30,013,114...30,019,975
Ensembl chr 5:30,013,114...30,019,981
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:74,013,914...74,023,921
Ensembl chr  X:74,013,914...74,023,918
JBrowse link
G Jak2 Janus kinase 2 susceptibility ISO DNA:SNPs, haplotype:introns: (rs1536798, rs10119004, rs7857730) (human) RGD PMID:20627814 RGD:6483025 NCBI chr19:29,251,803...29,313,095
Ensembl chr19:29,251,828...29,313,080
JBrowse link
G Kdm5a lysine (K)-specific demethylase 5A susceptibility ISO DNA:snps:intron:IVST>A, IVS-1467C>T, IVS+828T>C (rs7134353, rs2284336, rs11062357) (human) RGD PMID:24069348 RGD:9588532 NCBI chr 6:120,364,099...120,444,574
Ensembl chr 6:120,364,124...120,444,574
JBrowse link
G Mthfr methylenetetrahydrofolate reductase susceptibility ISO DNA:SNP:cds:677C>T (human) RGD PMID:25060515 RGD:42722610 NCBI chr 4:148,039,077...148,059,562
Ensembl chr 4:148,039,077...148,059,551
JBrowse link
G Pgf placental growth factor ISO RGD PMID:21873332 RGD:6483576 NCBI chr12:85,166,637...85,177,785
Ensembl chr12:85,166,635...85,177,790
JBrowse link
G Psmb9 proteasome (prosome, macropain) subunit, beta type 9 (large multifunctional peptidase 2) ISO DNA: snp: rs17587 RGD PMID:22034108 RGD:6483349 NCBI chr17:34,182,030...34,187,330
Ensembl chr17:34,181,987...34,187,764
JBrowse link
G Ptger4 prostaglandin E receptor 4 (subtype EP4) ISO CTD Direct Evidence: marker/mechanism CTD PMID:21743469, PMID:21743469 RGD:6483530 NCBI chr15:5,233,399...5,244,187
Ensembl chr15:5,206,661...5,244,187
JBrowse link
G Runx3 runt related transcription factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21743469 NCBI chr 4:135,120,645...135,177,990
Ensembl chr 4:135,120,652...135,177,990
JBrowse link
G Tap1 transporter 1, ATP-binding cassette, sub-family B (MDR/TAP) ISO DNA:SNPs: : RGD PMID:19480848 RGD:6482250 NCBI chr17:34,187,556...34,197,225
Ensembl chr17:34,187,553...34,197,225
JBrowse link
G Tap2 transporter 2, ATP-binding cassette, sub-family B (MDR/TAP) ISO DNA:SNPs: : RGD PMID:19480848 RGD:6482250 NCBI chr17:34,204,479...34,216,321
Ensembl chr17:34,203,527...34,216,321
JBrowse link
G Tbkbp1 TBK1 binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21743469 NCBI chr11:97,136,171...97,151,506
Ensembl chr11:97,136,171...97,151,495
JBrowse link
G Thbd thrombomodulin ISO protein:increased expression:serum RGD PMID:21556780 RGD:5684983 NCBI chr 2:148,404,471...148,408,188
Ensembl chr 2:148,404,466...148,408,188
JBrowse link
G Tlr4 toll-like receptor 4 ISO mRNA:increased expression:blood cell: RGD PMID:20952467 RGD:7794744 NCBI chr 4:66,827,551...66,846,581
Ensembl chr 4:66,827,584...66,930,284
JBrowse link
G Tlr5 toll-like receptor 5 ISO mRNA:increased expression:blood cell: RGD PMID:20952467 RGD:7794744 NCBI chr 1:182,954,752...182,976,044
Ensembl chr 1:182,954,788...182,976,044
JBrowse link
G Tnfrsf1b tumor necrosis factor receptor superfamily, member 1b ISO RGD PMID:21317434 RGD:5131280 NCBI chr 4:145,212,368...145,246,870
Ensembl chr 4:145,213,463...145,246,870
JBrowse link
G Vip vasoactive intestinal polypeptide ISO protein:increased expression:plasma RGD PMID:20340024 RGD:5685387 NCBI chr10:5,639,193...5,647,617
Ensembl chr10:5,639,218...5,647,617
JBrowse link
ankylosing spondylitis 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G H2-M2 histocompatibility 2, M region locus 2 susceptibility ISO OMIM NCBI chr17:37,480,851...37,483,554
Ensembl chr17:37,480,851...37,483,552
JBrowse link
astroblastoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apc APC, WNT signaling pathway regulator ISO ClinVar Annotator: match by term: Neuroepithelial neoplasm ClinVar PMID:25186627 PMID:25741868 PMID:27696107 PMID:27997549 PMID:28492532 NCBI chr18:34,220,297...34,322,190
Ensembl chr18:34,220,924...34,322,552
JBrowse link
G Mir542 microRNA 542 disease_progression ISO RGD PMID:26286747 RGD:13782052 NCBI chr  X:53,049,403...53,049,487
Ensembl chr  X:53,049,403...53,049,487
JBrowse link
G Pik3r1 phosphoinositide-3-kinase regulatory subunit 1 severity ISO RGD PMID:26956052, PMID:26286747 RGD:11343921, RGD:13782052 NCBI chr13:101,680,761...101,768,217
Ensembl chr13:101,680,563...101,768,217
JBrowse link
atelosteogenesis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Flnb filamin, beta ISS OMIM:108720 | OMIM:108721 | OMIM:256050 MouseDO NCBI chr14:7,817,921...7,951,588
Ensembl chr14:7,817,957...7,951,588
JBrowse link
G Slc26a2 solute carrier family 26 (sulfate transporter), member 2 ISO
ISS
ClinVar Annotator: match by term: Atelosteogenesis
OMIM:108720 | OMIM:108721 | OMIM:256050
ClinVar
MouseDO
NCBI chr18:61,196,854...61,211,596
Ensembl chr18:61,192,919...61,211,612
JBrowse link
Atelosteogenesis Type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Flnb filamin, beta ISO ClinVar Annotator: match by term: Atelosteogenesis type 1
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:108720
OMIM
ClinVar
CTD
PMID:14991055 PMID:24624349 PMID:25741868 PMID:28492532 NCBI chr14:7,817,921...7,951,588
Ensembl chr14:7,817,957...7,951,588
JBrowse link
G Map3k7 mitogen-activated protein kinase kinase kinase 7 ISO ClinVar Annotator: match by term: Atelosteogenesis type 1 ClinVar PMID:25741868 PMID:25899317 PMID:27426733 NCBI chr 4:31,963,492...32,023,470
Ensembl chr 4:31,964,097...32,023,467
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 (sulfate transporter), member 2 ISO ClinVar Annotator: match by term: Atelosteogenesis type II
ClinVar Annotator: match by term: Neonatal osseous dysplasia 1
ClinVar Annotator: match by term: Atelosteogenesis type 2
ClinVar Annotator: match by OMIM:256050
ClinVar Annotator: match by synonym: De la chapelle dysplasia
OMIM
ClinVar
PMID:4644462 PMID:7923357 PMID:8528239 PMID:8571951 PMID:8702127 PMID:8723100 PMID:8931695 PMID:9342225 PMID:10465113 PMID:10482955 PMID:11241838 PMID:11303514 PMID:11448940 PMID:11558903 PMID:11565064 PMID:12525546 PMID:12966518 PMID:15294877 PMID:15316973 PMID:16642506 PMID:17393463 PMID:18708426 PMID:18925670 PMID:20219950 PMID:20301524 PMID:20525296 PMID:20981092 PMID:21077202 PMID:21077204 PMID:21155763 PMID:21228398 PMID:21922596 PMID:22052783 PMID:23840040 PMID:24033266 PMID:24598000 PMID:25741868 PMID:27065010 PMID:28492532 PMID:29024831 NCBI chr18:61,196,854...61,211,596
Ensembl chr18:61,192,919...61,211,612
JBrowse link
Atelosteogenesis Type 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Flnb filamin, beta ISO ClinVar Annotator: match by term: Atelosteogenesis type III
ClinVar Annotator: match by term: Atelosteogenesis type 3
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:14991055 PMID:25741868 PMID:28492532 NCBI chr14:7,817,921...7,951,588
Ensembl chr14:7,817,957...7,951,588
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 channel, voltage-sensitive 7 ISO
IEA
ClinVar Annotator: match by term: Autosomal dominant osteopetrosis 2
ClinVar Annotator: match by term: Osteopetrosis autosomal dominant type 2
OMIM:166600
OMIM
ClinVar
MouseDO
PMID:1516225 PMID:11468688 PMID:11741829 PMID:14584882 PMID:21527911 PMID:23296056 PMID:23983121 PMID:25741868 PMID:26365571 NCBI chr17:25,133,378...25,162,103
Ensembl chr17:25,133,391...25,162,104
JBrowse link
bone structure disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Postn periostin, osteoblast specific factor IEA MouseDO NCBI chr 3:54,359,267...54,391,041
Ensembl chr 3:54,361,109...54,391,037
JBrowse link
G Qrfpr pyroglutamylated RFamide peptide receptor IEA MouseDO NCBI chr 3:36,179,426...36,222,275
Ensembl chr 3:36,179,424...36,222,313
JBrowse link
brain glioblastoma multiforme term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mir139 microRNA 139 ISO RNA:decreased expression:brain: RGD PMID:26449464 RGD:13838722 NCBI chr 7:101,475,376...101,475,443
Ensembl chr 7:101,475,376...101,475,443
JBrowse link
G Ncam1 neural cell adhesion molecule 1 disease_progression ISO RGD PMID:20219118 RGD:40924672 NCBI chr 9:49,502,129...49,799,393
Ensembl chr 9:49,502,136...49,798,925
JBrowse link
brain glioma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adam3 a disintegrin and metallopeptidase domain 3 (cyritestin) ISO DNA:deletion RGD PMID:21138945 RGD:13831351 NCBI chr 8:24,677,232...24,726,377
Ensembl chr 8:24,677,225...24,725,852
JBrowse link
G Bax BCL2-associated X protein treatment ISO RGD PMID:27255231, PMID:29324390 RGD:13792502, RGD:13792598 NCBI chr 7:45,461,695...45,466,903
Ensembl chr 7:45,461,697...45,466,898
JBrowse link
G Bcl2 B cell leukemia/lymphoma 2 treatment ISO RGD PMID:27255231, PMID:29324390 RGD:13792502, RGD:13792598 NCBI chr 1:106,538,176...106,714,290
Ensembl chr 1:106,538,178...106,714,274
JBrowse link
G Bst2 bone marrow stromal cell antigen 2 IEP mRNA,protein:increased expression:brain: RGD PMID:21565182 RGD:14398497 NCBI chr 8:71,534,255...71,537,472
Ensembl chr 8:71,534,255...71,537,456
JBrowse link
G Casp3 caspase 3 treatment ISO RGD PMID:29324390 RGD:13792598 NCBI chr 8:46,617,291...46,639,698
Ensembl chr 8:46,617,291...46,639,689
JBrowse link
G Fadd Fas (TNFRSF6)-associated via death domain treatment ISO RGD PMID:27255231 RGD:13792502 NCBI chr 7:144,578,323...144,582,441
Ensembl chr 7:144,577,318...144,582,463
JBrowse link
G Fas Fas (TNF receptor superfamily member 6) treatment ISO RGD PMID:29324390 RGD:13792598 NCBI chr19:34,290,647...34,327,775
Ensembl chr19:34,290,666...34,327,772
JBrowse link
G Fasl Fas ligand (TNF superfamily, member 6) treatment ISO RGD PMID:29324390 RGD:13792598 NCBI chr 1:161,780,691...161,788,495
Ensembl chr 1:161,780,689...161,788,495
JBrowse link
G Gapdh glyceraldehyde-3-phosphate dehydrogenase ISO RGD PMID:26032618 RGD:13792685 NCBI chr 6:125,161,852...125,166,467
Ensembl chr 6:125,161,715...125,166,467
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 IEP mRNA,protein:increased expression:brain stem: RGD PMID:25330836 RGD:13702891 NCBI chr 1:78,101,267...78,197,136
Ensembl chr 1:78,101,267...78,197,134
JBrowse link
G Pdgfra platelet derived growth factor receptor, alpha polypeptide severity ISO RGD PMID:20197468 RGD:13702892 NCBI chr 5:75,151,322...75,198,206
Ensembl chr 5:75,152,292...75,198,215
JBrowse link
Camptocormia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myh7 myosin, heavy polypeptide 7, cardiac muscle, beta ISO ClinVar Annotator: match by term: Bent Spine Syndrome ClinVar PMID:12707239 PMID:23861362 PMID:24033266 PMID:24793961 PMID:25467552 PMID:25741868 PMID:25961035 PMID:26627873 PMID:26969127 PMID:27247418 PMID:27532257 PMID:28492532 PMID:29300372 NCBI chr14:54,970,684...54,994,626
Ensembl chr14:54,970,684...54,994,626
JBrowse link
G Polg polymerase (DNA directed), gamma ISO ClinVar Annotator: match by term: Camptocormism ClinVar PMID:16621917 PMID:17452231 PMID:18546365 PMID:19189930 PMID:19578034 PMID:19752458 PMID:19815814 PMID:20227526 PMID:20803511 PMID:21856450 PMID:21880868 PMID:22647225 PMID:22727047 PMID:23808377 PMID:24033266 PMID:25741868 PMID:26467025 PMID:27271921 PMID:28130605 PMID:28492532 NCBI chr 7:79,446,231...79,467,911
Ensembl chr 7:79,446,231...79,466,362
JBrowse link
G Rrm2b ribonucleotide reductase M2 B (TP53 inducible) ISO ClinVar Annotator: match by term: Bent Spine Syndrome ClinVar PMID:17486094 PMID:21378381 NCBI chr15:37,923,952...37,961,119
Ensembl chr15:37,923,952...37,961,318
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 chr17:87,975,050...87,990,892
Ensembl chr17:87,975,062...87,990,892
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 ClinVar Annotator: match by term: CARASIL syndrome
ClinVar Annotator: match by term: Cerebrovascular disease with thin skin, alopecia, and disc disease
ClinVar Annotator: match by term: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy
ClinVar Annotator: match by OMIM:600142
OMIM
ClinVar
PMID:11889251 PMID:18316707 PMID:19387015 PMID:21115960 PMID:21482952 PMID:22900900 PMID:23963851 PMID:24500651 PMID:24535794 PMID:25741868 PMID:25770224 PMID:25772074 PMID:25957642 PMID:26063658 PMID:26467025 PMID:27164673 PMID:32101834 PMID:32581362 NCBI chr 7:130,936,203...130,985,658
Ensembl chr 7:130,936,111...130,985,660
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 chr16:16,983,382...17,047,453
Ensembl chr16:16,983,382...17,047,453
JBrowse link
chromosome 13q14 deletion syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 4933427D06Rik RIKEN cDNA 4933427D06 gene ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr 6:89,096,110...89,110,039
Ensembl chr 6:88,950,683...89,110,031
JBrowse link
G Acod1 aconitate decarboxylase 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:103,047,012...103,056,573
Ensembl chr14:103,046,977...103,056,573
JBrowse link
G Alg11 asparagine-linked glycosylation 11 (alpha-1,2-mannosyltransferase) ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr 8:22,060,721...22,071,627
Ensembl chr 8:22,060,721...22,071,627
JBrowse link
G Arl11 ADP-ribosylation factor-like 11 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:61,306,290...61,311,937
Ensembl chr14:61,309,753...61,311,936
JBrowse link
G Atp7b ATPase, Cu++ transporting, beta polypeptide ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr 8:21,992,783...22,060,074
Ensembl chr 8:21,992,785...22,060,305
JBrowse link
G Bora bora, aurora kinase A activator ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:99,046,377...99,074,540
Ensembl chr14:99,046,222...99,074,540
JBrowse link
G Cab39l calcium binding protein 39-like ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:59,440,934...59,548,904
Ensembl chr14:59,440,972...59,585,764
JBrowse link
G Ccdc70 coiled-coil domain containing 70 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr 8:21,969,775...21,974,055
Ensembl chr 8:21,969,775...21,974,041
JBrowse link
G Cdadc1 cytidine and dCMP deaminase domain containing 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:59,559,386...59,597,985
Ensembl chr14:59,559,388...59,597,959
JBrowse link
G Ckap2 cytoskeleton associated protein 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr 8:22,168,149...22,185,819
Ensembl chr 8:22,168,160...22,185,819
JBrowse link
G Cln5 ceroid-lipofuscinosis, neuronal 5 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:103,070,216...103,077,630
Ensembl chr14:103,070,216...103,077,628
JBrowse link
G Cnmd chondromodulin ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:79,637,682...79,662,194
Ensembl chr14:79,637,690...79,662,170
JBrowse link
G Commd6 COMM domain containing 6 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:101,633,766...101,640,471
Ensembl chr14:101,632,981...101,640,686
JBrowse link
G Cysltr2 cysteinyl leukotriene receptor 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:73,025,672...73,049,114
Ensembl chr14:73,025,603...73,049,114
JBrowse link
G Dach1 dachshund family transcription factor 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:97,786,846...98,169,765
Ensembl chr14:97,786,853...98,169,765
JBrowse link
G Diaph3 diaphanous related formin 3 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:86,655,357...87,141,247
Ensembl chr14:86,655,367...87,141,235
JBrowse link
G Dis3 DIS3 homolog, exosome endoribonuclease and 3'-5' exoribonuclease ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:99,076,634...99,099,780
Ensembl chr14:99,075,206...99,099,770
JBrowse link
G Dleu7 deleted in lymphocytic leukemia, 7 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:62,276,229...62,292,979
Ensembl chr14:62,276,231...62,293,047
JBrowse link
G Ebpl emopamil binding protein-like ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:61,339,763...61,360,445
Ensembl chr14:61,331,742...61,360,439
JBrowse link
G Ednrb endothelin receptor type B ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:103,814,615...103,844,508
Ensembl chr14:103,814,625...103,844,402
JBrowse link
G Fam124a family with sequence similarity 124, member A ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:62,555,737...62,608,486
Ensembl chr14:62,555,737...62,608,486
JBrowse link
G Fbxl3 F-box and leucine-rich repeat protein 3 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:103,080,239...103,099,566
Ensembl chr14:103,080,239...103,099,566
JBrowse link
G Fndc3a fibronectin type III domain containing 3A ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:72,537,948...72,710,701
Ensembl chr14:72,537,946...72,710,003
JBrowse link
G Gm4131 predicted gene 4131 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:62,462,488...62,481,155
Ensembl chr14:62,463,414...62,566,921
JBrowse link
G Gm45935 predicted gene, 45935 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:59,380,833...59,440,880 JBrowse link
G Ints6 integrator complex subunit 6 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:62,676,325...62,761,163
Ensembl chr14:62,676,330...62,761,169
JBrowse link
G Itm2b integral membrane protein 2B ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:73,362,226...73,385,289
Ensembl chr14:73,362,226...73,385,289
JBrowse link
G Kcnrg potassium channel regulator ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:61,607,457...61,612,833
Ensembl chr14:61,607,457...61,612,826
JBrowse link
G Kctd12 potassium channel tetramerisation domain containing 12 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:102,976,581...102,982,637
Ensembl chr14:102,976,581...102,982,637
JBrowse link
G Klf12 Kruppel-like factor 12 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:99,866,181...100,285,891
Ensembl chr14:99,870,632...100,284,679
JBrowse link
G Klf5 Kruppel-like factor 5 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:99,298,691...99,313,412
Ensembl chr14:99,298,691...99,315,036
JBrowse link
G Klhl1 kelch-like 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:96,105,265...96,519,034
Ensembl chr14:96,102,736...96,519,102
JBrowse link
G Kpna3 karyopherin (importin) alpha 3 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:61,365,186...61,439,947
Ensembl chr14:61,365,211...61,439,874
JBrowse link
G Krtap21-1 keratin associated protein 21-1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr16:89,403,027...89,403,774
Ensembl chr16:89,403,218...89,403,868
JBrowse link
G Lmo7 LIM domain only 7 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:101,729,928...101,934,708
Ensembl chr14:101,729,957...101,934,710
JBrowse link
G Lpar6 lysophosphatidic acid receptor 6 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:73,237,891...73,240,358
Ensembl chr14:73,237,895...73,243,294
JBrowse link
G Med4 mediator complex subunit 4 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:73,510,049...73,518,545
Ensembl chr14:73,510,025...73,518,849
JBrowse link
G Mir15a microRNA 15a ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:61,632,027...61,632,110
Ensembl chr14:61,632,027...61,632,110
JBrowse link
G Mir16-1 microRNA 16-1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:61,631,880...61,631,972
Ensembl chr14:61,631,880...61,631,972
JBrowse link
G Mir759 microRNA 759 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:79,738,431...79,738,528
Ensembl chr14:79,738,431...79,738,528
JBrowse link
G Mycbp2 MYC binding protein 2, E3 ubiquitin protein ligase ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:103,113,411...103,346,840
Ensembl chr14:103,113,411...103,346,814
JBrowse link
G Mzt1 mitotic spindle organizing protein 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:99,034,544...99,046,453
Ensembl chr14:99,034,544...99,046,134
JBrowse link
G Ndfip2 Nedd4 family interacting protein 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:105,258,591...105,309,298
Ensembl chr14:105,258,573...105,309,298
JBrowse link
G Nek3 NIMA (never in mitosis gene a)-related expressed kinase 3 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr 8:22,128,283...22,166,997
Ensembl chr 8:22,128,283...22,166,435
JBrowse link
G Nek5 NIMA (never in mitosis gene a)-related expressed kinase 5 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr 8:22,073,615...22,125,418
Ensembl chr 8:22,073,616...22,125,053
JBrowse link
G Nudt15 nudix (nucleoside diphosphate linked moiety X)-type motif 15 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:73,518,880...73,548,242
Ensembl chr14:73,518,877...73,548,242
JBrowse link
G Obi1 ORC ubiquitin ligase 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:104,477,534...104,522,712
Ensembl chr14:104,477,536...104,522,645
JBrowse link
G Olfm4 olfactomedin 4 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:80,000,302...80,023,141
Ensembl chr14:79,984,081...80,023,139
JBrowse link
G Pcdh17 protocadherin 17 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:84,443,563...84,537,565
Ensembl chr14:84,443,563...84,539,002
JBrowse link
G Pcdh20 protocadherin 20 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:88,464,743...88,471,396
Ensembl chr14:88,464,743...88,471,396
JBrowse link
G Pcdh8 protocadherin 8 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:79,766,772...79,771,312
Ensembl chr14:79,766,775...79,771,312
JBrowse link
G Pcdh9 protocadherin 9 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:93,013,700...93,892,834
Ensembl chr14:93,013,410...93,890,679
JBrowse link
G Phf11d PHD finger protein 11D ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:59,347,407...59,365,490
Ensembl chr14:59,347,407...59,365,470
JBrowse link
G Pibf1 progesterone immunomodulatory binding factor 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:99,099,424...99,254,899
Ensembl chr14:99,099,424...99,254,493
JBrowse link
G Pou4f1 POU domain, class 4, transcription factor 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:104,461,675...104,468,118
Ensembl chr14:104,461,676...104,467,999
JBrowse link
G Rb1 RB transcriptional corepressor 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:73,192,858...73,325,951
Ensembl chr14:73,183,673...73,325,822
JBrowse link
G Rbm26 RNA binding motif protein 26 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:105,106,751...105,181,039
Ensembl chr14:105,106,751...105,177,327
JBrowse link
G Rcbtb1 regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:59,201,018...59,237,267
Ensembl chr14:59,201,209...59,237,265
JBrowse link
G Rcbtb2 regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:73,138,745...73,184,055
Ensembl chr14:73,123,037...73,207,843
JBrowse link
G Rnaseh2b ribonuclease H2, subunit B ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:62,332,068...62,372,996
Ensembl chr14:62,292,589...62,372,992
JBrowse link
G Scel sciellin ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:103,513,061...103,613,346
Ensembl chr14:103,513,342...103,612,797
JBrowse link
G Serpine3 serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 3 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:62,663,298...62,692,243
Ensembl chr14:62,663,667...62,692,243
JBrowse link
G Setdb2 SET domain, bifurcated 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:59,402,009...59,440,880
Ensembl chr14:59,402,009...59,440,884
JBrowse link
G Slain1 SLAIN motif family, member 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:103,650,228...103,704,907
Ensembl chr14:103,650,228...103,704,907
JBrowse link
G Slitrk1 SLIT and NTRK-like family, member 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:108,909,988...108,914,239
Ensembl chr14:108,908,800...108,914,158
JBrowse link
G Slitrk6 SLIT and NTRK-like family, member 6 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:110,747,338...110,755,204
Ensembl chr14:110,748,580...110,755,149
JBrowse link
G Spry2 sprouty RTK signaling antagonist 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:105,891,947...105,896,819
Ensembl chr14:105,891,947...105,896,819
JBrowse link
G Spryd7 SPRY domain containing 7 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:61,531,851...61,556,886
Ensembl chr14:61,531,993...61,556,886
JBrowse link
G Sucla2 succinate-Coenzyme A ligase, ADP-forming, beta subunit ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:73,552,786...73,596,144
Ensembl chr14:73,525,319...73,596,142
JBrowse link
G Sugt1 SGT1, suppressor of G2 allele of SKP1 (S. cerevisiae) ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:79,587,660...79,630,797
Ensembl chr14:79,587,691...79,635,196
JBrowse link
G Tbc1d4 TBC1 domain family, member 4 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:101,442,360...101,609,281
Ensembl chr14:101,442,360...101,609,191
JBrowse link
G Tdrd3 tudor domain containing 3 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:87,416,178...87,545,508
Ensembl chr14:87,416,639...87,545,504
JBrowse link
G Thsd1 thrombospondin, type I, domain 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr 8:22,220,938...22,262,957
Ensembl chr 8:22,227,313...22,261,334
JBrowse link
G Trim13 tripartite motif-containing 13 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:61,598,226...61,610,287
Ensembl chr14:61,598,247...61,605,946
JBrowse link
G Uchl3 ubiquitin carboxyl-terminal esterase L3 (ubiquitin thiolesterase) ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:101,653,892...101,696,125
Ensembl chr14:101,653,967...101,696,125
JBrowse link
G Vps36 vacuolar protein sorting 36 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr 8:22,192,833...22,220,953
Ensembl chr 8:22,192,809...22,220,843
JBrowse link
G Wdfy2 WD repeat and FYVE domain containing 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:62,837,661...62,961,509
Ensembl chr14:62,837,678...62,961,509
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, muscle type ISO ClinVar Annotator: match by term: Chronic osteomyelitis ClinVar NCBI chr11:30,505,992...30,649,608
Ensembl chr11:30,505,991...30,649,587
JBrowse link
G LOC110806267 Tert 5' regulatory region ISO ClinVar Annotator: match by term: Chronic osteomyelitis ClinVar NCBI chr13:73,622,544...73,627,391 JBrowse link
G Mlkl mixed lineage kinase domain-like ISO ClinVar Annotator: match by term: Chronic multifocal osteomyelitis ClinVar NCBI chr 8:111,311,255...111,338,479
Ensembl chr 8:111,311,797...111,338,177
JBrowse link
G Mynn myoneurin ISO ClinVar Annotator: match by term: Chronic osteomyelitis ClinVar NCBI chr 3:30,602,087...30,619,873
Ensembl chr 3:30,602,065...30,619,873
JBrowse link
G Tert telomerase reverse transcriptase ISO ClinVar Annotator: match by term: Chronic osteomyelitis ClinVar PMID:28492532 NCBI chr13:73,626,911...73,649,843
Ensembl chr13:73,626,911...73,649,843
JBrowse link
G Zbtb46 zinc finger and BTB domain containing 46 ISO ClinVar Annotator: match by term: Chronic osteomyelitis ClinVar NCBI chr 2:181,371,009...181,493,262
Ensembl chr 2:181,387,762...181,459,426
JBrowse link
degenerative disc disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acan aggrecan treatment ISO associated with Renal Insufficiency
mRNA:decreased expression:intervertebral disk
RGD PMID:19063844, PMID:24285589 RGD:10043178, RGD:11570539 NCBI chr 7:79,053,226...79,115,099
Ensembl chr 7:79,053,483...79,115,099
JBrowse link
G Adamts4 a disintegrin-like and metallopeptidase (reprolysin type) with thrombospondin type 1 motif, 4 ISO RGD PMID:22394620 RGD:10043115 NCBI chr 1:171,250,129...171,262,267
Ensembl chr 1:171,250,421...171,260,637
JBrowse link
G Adamts5 a disintegrin-like and metallopeptidase (reprolysin type) with thrombospondin type 1 motif, 5 (aggrecanase-2) ISO mRNA:increased expression:intervertebral disk of cervical vertebra RGD PMID:20948465, PMID:22394620 RGD:8661231, RGD:10043115 NCBI chr16:85,858,157...85,901,125
Ensembl chr16:85,856,173...85,901,828
JBrowse link
G Aspn asporin severity
susceptibility
ISO mRNA:increased expression:intervertebral disk:
DNA:repeats:exon:
RGD PMID:19327154, PMID:18304494 RGD:9684961, RGD:9684970 NCBI chr13:49,544,443...49,567,565
Ensembl chr13:49,544,443...49,567,565
JBrowse link
G Becn1 beclin 1, autophagy related ISO protein:increased expression:intervertebral disc RGD PMID:22835012 RGD:11561942 NCBI chr11:101,288,258...101,302,286
Ensembl chr11:101,285,952...101,302,286
JBrowse link
G Col10a1 collagen, type X, alpha 1 ISO RGD PMID:20948465 RGD:8661231 NCBI chr10:34,389,981...34,397,085
Ensembl chr10:34,389,981...34,397,085
JBrowse link
G Col1a1 collagen, type I, alpha 1 ISO DNA:SNP: :rs2075555 (human) RGD PMID:19180518 RGD:5688293 NCBI chr11:94,936,224...94,953,042
Ensembl chr11:94,936,224...94,953,042
JBrowse link
G Col2a1 collagen, type II, alpha 1 treatment ISO mRNA:decreased expression:intervertebral disc (rat)
associated with Renal Insufficiency
RGD PMID:20948465, PMID:24285589, PMID:19063844 RGD:8661231, RGD:11570539, RGD:10043178 NCBI chr15:97,975,602...98,004,724
Ensembl chr15:97,975,602...98,004,695
JBrowse link
G Crk v-crk avian sarcoma virus CT10 oncogene homolog treatment ISO RGD PMID:23055810 RGD:11568070 NCBI chr11:75,679,194...75,708,428
Ensembl chr11:75,679,259...75,706,908
JBrowse link
G Ercc1 excision repair cross-complementing rodent repair deficiency, complementation group 1 IMP associated with Progeria RGD PMID:20973062 RGD:13207419 NCBI chr 7:19,344,067...19,356,524
Ensembl chr 7:19,344,778...19,356,524
JBrowse link
G Gsk3b glycogen synthase kinase 3 beta ISO RGD PMID:29393545 RGD:13792726 NCBI chr16:38,089,001...38,246,084
Ensembl chr16:38,089,001...38,246,084
JBrowse link
G Map1lc3a microtubule-associated protein 1 light chain 3 alpha ISO protein:increased expression:intervertebral disc RGD PMID:22835012 RGD:11561942 NCBI chr 2:155,276,364...155,278,073
Ensembl chr 2:155,276,297...155,278,073
JBrowse link
G Mmp13 matrix metallopeptidase 13 treatment ISO mRNA:increased expression:intervertebral disc
associated with Renal Insufficiency
RGD PMID:20948465, PMID:19063844, PMID:20472983 RGD:8661231, RGD:10043178, RGD:2325859 NCBI chr 9:7,272,514...7,283,333
Ensembl chr 9:7,272,514...7,283,331
JBrowse link
G Mmp1a matrix metallopeptidase 1a (interstitial collagenase) ISO RGD PMID:19916288 RGD:7207382 NCBI chr 9:7,464,141...7,476,869
Ensembl chr 9:7,464,141...7,476,869
JBrowse link
G Mmp3 matrix metallopeptidase 3 treatment ISO mRNA:increased expression:intervertebral disc RGD PMID:20472983, PMID:20948465 RGD:2325859, RGD:8661231 NCBI chr 9:7,445,822...7,455,975
Ensembl chr 9:7,445,822...7,455,975
JBrowse link
G Ngf nerve growth factor ISO RGD PMID:20973063 RGD:5144150 NCBI chr 3:102,469,919...102,521,013
Ensembl chr 3:102,469,919...102,521,013
JBrowse link
G Ngfr nerve growth factor receptor (TNFR superfamily, member 16) ISO RGD PMID:20973063 RGD:5144150 NCBI chr11:95,568,818...95,587,698
Ensembl chr11:95,568,818...95,587,735
JBrowse link
G Pappa pregnancy-associated plasma protein A ISO protein:increased expression:vertebral disc: RGD PMID:18552658 RGD:10412724 NCBI chr 4:65,124,174...65,357,509
Ensembl chr 4:65,124,174...65,357,509
JBrowse link
G Postn periostin, osteoblast specific factor ISO protein:increased expression:tail intervertebral disc:
mRNA,protein:increased expression:nucleus pulposus:
RGD PMID:23453657, PMID:23453657 RGD:10040995, RGD:10040995 NCBI chr 3:54,359,267...54,391,041
Ensembl chr 3:54,361,109...54,391,037
JBrowse link
G Sparc secreted acidic cysteine rich glycoprotein ISO CTD Direct Evidence: marker/mechanism CTD PMID:20714283 NCBI chr11:55,394,159...55,420,080
Ensembl chr11:55,394,500...55,423,183
JBrowse link
G Tgfb1 transforming growth factor, beta 1 ISO CTD Direct Evidence: therapeutic CTD PMID:21351055 NCBI chr 7:25,687,002...25,705,077
Ensembl chr 7:25,687,002...25,705,077
JBrowse link
G Timp1 tissue inhibitor of metalloproteinase 1 treatment ISO associated with Renal Insufficiency RGD PMID:19063844 RGD:10043178 NCBI chr  X:20,870,166...20,874,737
Ensembl chr  X:20,870,166...20,874,735
JBrowse link
diffuse idiopathic skeletal hyperostosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc29a1 solute carrier family 29 (nucleoside transporters), member 1 IEA OMIM:106400 MouseDO NCBI chr17:45,585,200...45,599,618
Ensembl chr17:45,585,200...45,599,606
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 chr 2:58,446,438...58,566,828
Ensembl chr 2:58,388,644...58,567,157
JBrowse link
G Brip1 BRCA1 interacting protein C-terminal helicase 1 ISO ClinVar Annotator: match by term: Diffuse intrinsic pontine glioma ClinVar PMID:16116424 PMID:16973432 PMID:18510924 PMID:19099189 PMID:19150983 PMID:19379763 PMID:19442249 PMID:19519404 PMID:20639400 PMID:20980836 PMID:21345144 PMID:22024395 PMID:22287629 PMID:22582397 PMID:23161009 PMID:23276657 PMID:23644138 PMID:23935105 PMID:24448499 PMID:24487782 PMID:24573678 PMID:24728327 PMID:24895130 PMID:25374583 PMID:25583461 PMID:25741868 PMID:26315354 PMID:26596371 PMID:26689913 PMID:26790966 PMID:27107905 PMID:28492532 PMID:28911102 PMID:29922827 PMID:30322717 PMID:31265121 PMID:31341520 PMID:31822495 NCBI chr11:86,058,136...86,201,215
Ensembl chr11:86,058,138...86,201,193
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 PMID:12094328 PMID:12533788 PMID:12690581 PMID:14648717 PMID:14648718 PMID:14648719 PMID:15087378 PMID:15122511 PMID:15466005 PMID:15488637 PMID:15492928 PMID:15520402 PMID:16257342 PMID:16492927 PMID:16880452 PMID:17085682 PMID:18172190 PMID:19338683 PMID:19805189 PMID:21779515 PMID:21807500 PMID:21956126 PMID:22006311 PMID:22058428 PMID:22419737 PMID:22811390 PMID:22994785 PMID:23329222 PMID:23415889 PMID:23469205 PMID:24033266 PMID:24723567 PMID:24884479 PMID:25431674 PMID:25741868 PMID:26084796 PMID:26332814 PMID:26467025 PMID:26641009 PMID:26681312 PMID:26822237 PMID:26845104 PMID:26884562 PMID:26976419 PMID:27083775 PMID:27153395 PMID:27223485 PMID:27269948 PMID:27433846 PMID:27751358 PMID:27798748 PMID:28125075 PMID:28135145 PMID:28195393 PMID:28492532 PMID:28503720 PMID:28514723 PMID:28727877 PMID:28734145 PMID:28779002 PMID:28802053 PMID:28874143 PMID:29146883 PMID:29351919 PMID:29489754 PMID:29522266 PMID:31300551 PMID:31993860 PMID:32119081 PMID:32285038 PMID:32295079 PMID:32383162 PMID:32531112 NCBI chr 5:110,839,800...110,874,140
Ensembl chr 5:110,839,979...110,874,145
JBrowse link
G Nf1 neurofibromin 1 ISO ClinVar Annotator: match by term: Diffuse intrinsic pontine glioma ClinVar PMID:25741868 PMID:28492532 NCBI chr11:79,339,590...79,581,609
Ensembl chr11:79,339,693...79,581,612
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 ClinVar Annotator: match by term: Dyggve-Melchior-Clausen syndrome
ClinVar Annotator: match by OMIM:223800
OMIM
ClinVar
PMID:12161821 PMID:12491225 PMID:12554689 PMID:16097008 PMID:25741868 PMID:28492532 NCBI chr18:75,018,699...75,286,966
Ensembl chr18:75,018,781...75,286,964
JBrowse link
dysembryoplastic neuroepithelial tumor term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Braf Braf transforming gene ISO DNA:mutation:cds:p.V600E(human) RGD PMID:25346165 RGD:11567238 NCBI chr 6:39,603,231...39,725,658
Ensembl chr 6:39,603,237...39,725,463
JBrowse link
Ehlers-Danlos syndrome kyphoscoliotic type 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fkbp14 FK506 binding protein 14 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss
ClinVar Annotator: match by OMIM:614557
OMIM
ClinVar
PMID:9536098 PMID:17576681 PMID:22265013 PMID:24677762 PMID:25741868 PMID:27149304 PMID:27905128 PMID:28492532 PMID:28617417 PMID:31132235 NCBI chr 6:54,577,602...54,597,344
Ensembl chr 6:54,577,604...54,597,308
JBrowse link
Ependymomas term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bcl7c B cell CLL/lymphoma 7C ISO CTD Direct Evidence: marker/mechanism CTD PMID:26075792 NCBI chr 7:127,661,454...127,708,766
Ensembl chr 7:127,661,456...127,708,933
JBrowse link
G Ephb2 Eph receptor B2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26075792 NCBI chr 4:136,647,536...136,836,326
Ensembl chr 4:136,647,539...136,835,988
JBrowse link
G Gdnf glial cell line derived neurotrophic factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:19138852 NCBI chr15:7,810,048...7,837,580
Ensembl chr15:7,810,846...7,837,575
JBrowse link
G Rab3a RAB3A, member RAS oncogene family ISO CTD Direct Evidence: marker/mechanism CTD PMID:26075792 NCBI chr 8:70,754,703...70,758,608
Ensembl chr 8:70,754,679...70,758,677
JBrowse link
G Rtbdn retbindin ISO CTD Direct Evidence: marker/mechanism CTD PMID:26075792 NCBI chr 8:84,946,991...84,956,606
Ensembl chr 8:84,946,991...84,956,603
JBrowse link
G Shc3 src homology 2 domain-containing transforming protein C3 ISO DNA:amplification:brain: RGD PMID:19748727 RGD:13782069 NCBI chr13:51,423,389...51,569,451
Ensembl chr13:51,431,041...51,569,487
JBrowse link
G Zfp668 zinc finger protein 668 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26075792 NCBI chr 7:127,861,025...127,876,836
Ensembl chr 7:127,863,047...127,876,828
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 deleted in colorectal carcinoma ISO CTD Direct Evidence: marker/mechanism CTD PMID:28250456 NCBI chr18:71,253,613...72,351,228
Ensembl chr18:71,253,634...72,351,069
JBrowse link
G Robo3 roundabout guidance receptor 3 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 9:37,416,045...37,433,436
Ensembl chr 9:37,415,669...37,433,246
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 ClinVar Annotator: match by term: Gaze palsy, familial horizontal, with progressive scoliosis 1 OMIM
ClinVar
PMID:15105459 PMID:16525029 PMID:16772357 PMID:18829051 PMID:19041479 PMID:19633821 PMID:24969490 PMID:25326635 PMID:25741868 PMID:27318526 PMID:28024310 PMID:28492532 PMID:29215389 PMID:32860008 NCBI chr 9:37,416,045...37,433,436
Ensembl chr 9:37,415,669...37,433,246
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 deleted in colorectal carcinoma ISO ClinVar Annotator: match by term: GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS, 2
ClinVar Annotator: match by term: Gaze palsy, familial horizontal, with progressive scoliosis, 2
ClinVar
OMIM
PMID:25741868 PMID:28250456 PMID:28492532 NCBI chr18:71,253,613...72,351,228
Ensembl chr18:71,253,634...72,351,069
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 chr14:73,192,858...73,325,951
Ensembl chr14:73,183,673...73,325,822
JBrowse link
fibrillary astrocytoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kras Kirsten rat sarcoma viral oncogene homolog ISO mRNA:decreased expression:brain RGD PMID:19179066 RGD:13702872 NCBI chr 6:145,216,699...145,250,420
Ensembl chr 6:145,216,699...145,250,239
JBrowse link
ganglioneuroblastoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alk anaplastic lymphoma kinase ISO ClinVar Annotator: match by term: Ganglioneuroblastoma ClinVar PMID:21838707 PMID:22072639 PMID:23104988 PMID:25741868 PMID:28492532 NCBI chr17:71,868,988...72,604,702
Ensembl chr17:71,868,972...72,604,627
JBrowse link
G Brca1 breast cancer 1, early onset ISO ClinVar Annotator: match by term: Ganglioneuroblastoma ClinVar PMID:25348012 PMID:25741868 PMID:25971625 PMID:26295337 PMID:26467025 PMID:28492532 PMID:30287823 NCBI chr11:101,488,761...101,551,955
Ensembl chr11:101,488,764...101,551,955
JBrowse link
G Tsc2 TSC complex subunit 2 ISO ClinVar Annotator: match by term: Ganglioneuroblastoma ClinVar PMID:21309039 PMID:21520333 PMID:25741868 PMID:28492532 NCBI chr17:24,595,816...24,632,676
Ensembl chr17:24,595,816...24,632,630
JBrowse link
glioblastoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 4930550C14Rik RIKEN cDNA 4930550C14 gene ISO ClinVar Annotator: match by term: Glioblastoma ClinVar PMID:9054948 PMID:19781682 PMID:23322442 PMID:25525159 PMID:25741868 PMID:26467025 NCBI chr 9:53,402,713...53,434,426
Ensembl chr 9:53,402,325...53,434,402
JBrowse link
G Actr3 ARP3 actin-related protein 3 ISO mRNA:increased expression:brain (human) RGD PMID:25682201 RGD:11570557 NCBI chr 1:125,392,905...125,435,727
Ensembl chr 1:125,392,905...125,435,727
JBrowse link
G Adgrb1 adhesion G protein-coupled receptor B1 treatment ISO mRNA:decreased expression:brain: RGD PMID:16244591, PMID:12507886 RGD:13831352, RGD:13831355 NCBI chr15:74,516,196...74,589,465
Ensembl chr15:74,516,195...74,589,465
JBrowse link
G Adgrl4 adhesion G protein-coupled receptor L4 treatment
severity
IMP
ISO
RGD PMID:27416955, PMID:23096411, PMID:23096411 RGD:13838664, RGD:13838665, RGD:13838665 NCBI chr 3:151,437,882...151,545,081
Ensembl chr 3:151,437,887...151,545,086
JBrowse link
G Akt1 thymoma viral proto-oncogene 1 IMP RGD PMID:10802656 RGD:734543 NCBI chr12:112,653,821...112,674,884
Ensembl chr12:112,653,821...112,674,884
JBrowse link
G Akt3 thymoma viral proto-oncogene 3 disease_progression ISO RGD PMID:27422127 RGD:13674164 NCBI chr 1:177,020,076...177,261,781
Ensembl chr 1:177,020,073...177,258,203
JBrowse link
G Apc APC, WNT signaling pathway regulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:7661930 NCBI chr18:34,220,297...34,322,190
Ensembl chr18:34,220,924...34,322,552
JBrowse link
G Aspm abnormal spindle microtubule assembly ISO mRNA:increased expression:brain: RGD PMID:18636190 RGD:13439742 NCBI chr 1:139,454,188...139,494,088
Ensembl chr 1:139,454,772...139,494,091
JBrowse link
G Atm ataxia telangiectasia mutated ISO ClinVar Annotator: match by term: Glioblastoma ClinVar PMID:9054948 PMID:19781682 PMID:23322442 PMID:25525159 PMID:25741868 PMID:26467025 NCBI chr 9:53,437,122...53,536,828
Ensembl chr 9:53,439,149...53,536,740
JBrowse link
G Atrx ATRX, chromatin remodeler disease_progression ISO ClinVar Annotator: match by term: Glioblastoma multiforme, somatic ClinVar PMID:27478330 RGD:13442489 NCBI chr  X:105,797,615...105,929,372
Ensembl chr  X:105,797,615...105,929,403
JBrowse link
G Bag3 BCL2-associated athanogene 3 treatment ISO RGD PMID:21561597 RGD:5687132 NCBI chr 7:128,523,583...128,546,981
Ensembl chr 7:128,523,616...128,546,981
JBrowse link
G Bche butyrylcholinesterase ISO CTD Direct Evidence: marker/mechanism CTD PMID:2317787 NCBI chr 3:73,635,805...73,708,436
Ensembl chr 3:73,635,808...73,708,415
JBrowse link
G Becn1 beclin 1, autophagy related disease_progression ISO RGD PMID:20863706 RGD:6483102 NCBI chr11:101,288,258...101,302,286
Ensembl chr11:101,285,952...101,302,286
JBrowse link
G Bhlhe40 basic helix-loop-helix family, member e40 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23582323 NCBI chr 6:108,660,629...108,666,925
Ensembl chr 6:108,660,629...108,666,925
JBrowse link
G Bmi1 Bmi1 polycomb ring finger oncogene ISO CTD Direct Evidence: marker/mechanism CTD PMID:19823589 NCBI chr 2:18,677,018...18,686,629
Ensembl chr 2:18,677,018...18,686,629
JBrowse link
G Braf Braf transforming gene ISO ClinVar Annotator: match by term: Glioblastoma ClinVar PMID:12068308 PMID:12198537 PMID:12447372 PMID:12460918 PMID:12460919 PMID:12619120 PMID:12644542 PMID:12670889 PMID:12794760 PMID:12960123 PMID:14513361 PMID:14602780 PMID:14679157 PMID:15001635 PMID:15035987 PMID:15126572 PMID:15181070 PMID:15342696 PMID:15356022 PMID:15386408 PMID:15687339 PMID:15998781 PMID:16015629 PMID:16174717 PMID:16187918 PMID:16439621 PMID:16474404 PMID:16772349 PMID:16825433 PMID:17374713 PMID:17488796 PMID:17785355 PMID:18039235 PMID:18398503 PMID:18413255 PMID:19001320 PMID:19010912 PMID:19018267 PMID:19238210 PMID:19376813 PMID:19404918 PMID:19537845 PMID:19561230 PMID:20008640 PMID:20350999 PMID:20413299 PMID:20619739 PMID:20630094 PMID:20818844 PMID:20823850 PMID:20857202 PMID:21107320 PMID:21107323 PMID:21129611 PMID:21156289 PMID:21163703 PMID:21426297 PMID:21483012 PMID:21502544 PMID:21639808 PMID:21641636 PMID:21683865 PMID:21975775 PMID:22038996 PMID:22048237 PMID:22113612 PMID:22180495 PMID:22281684 PMID:22310681 PMID:22351686 PMID:22356324 PMID:22389471 PMID:22448344 PMID:22536370 PMID:22586120 PMID:22608338 PMID:22649091 PMID:22663011 PMID:22735384 PMID:22743296 PMID:22773810 PMID:22805292 PMID:22972589 PMID:22997239 PMID:23020132 PMID:23031422 PMID:23251002 PMID:23302800 PMID:23325582 PMID:23470635 PMID:23524406 PMID:23549875 PMID:23614898 PMID:23685455 PMID:23812671 PMID:23833300 PMID:23845441 PMID:23918947 PMID:24033266 PMID:24107445 PMID:24112392 PMID:24163374 PMID:24388723 PMID:24508103 PMID:24512911 PMID:24576830 PMID:24583796 PMID:24586605 PMID:24594804 PMID:24670642 PMID:24717435 PMID:25024077 PMID:25037139 PMID:25079330 PMID:25157968 PMID:25265492 PMID:25265494 PMID:25370471 PMID:25399551 PMID:25463315 PMID:25741868 PMID:25950823 PMID:25989278 PMID:26619011 PMID:26678033 PMID:27404270 PMID:27480103 PMID:28492532 PMID:28854169 PMID:28891408 PMID:29925953 PMID:31779674 PMID:31891627 NCBI chr 6:39,603,231...39,725,658
Ensembl chr 6:39,603,237...39,725,463
JBrowse link
G Brd2 bromodomain containing 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27388964 NCBI chr17:34,112,019...34,122,814
Ensembl chr17:34,112,023...34,122,634
JBrowse link
G Brd4 bromodomain containing 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26455392 PMID:27388964 NCBI chr17:32,196,272...32,284,743
Ensembl chr17:32,196,274...32,284,722
JBrowse link
G Brd7 bromodomain containing 7 ISO protein:increased expression:brain: RGD PMID:24404152 RGD:9586441 NCBI chr 8:88,329,894...88,362,252
Ensembl chr 8:88,331,039...88,362,194
JBrowse link
G Cbx6 chromobox 6 disease_progression ISO mRNA,protein:decreased expression:astrocyte: RGD PMID:24260522 RGD:9587354 NCBI chr15:79,823,898...79,834,333
Ensembl chr15:79,823,896...79,834,688
JBrowse link
G Cbx7 chromobox 7 disease_progression ISO mRNA,protein:decreased expression:astrocyte: RGD PMID:24260522 RGD:9587354 NCBI chr15:79,915,804...79,971,143
Ensembl chr15:79,915,807...79,971,119
JBrowse link
G Cbx8 chromobox 8 ISO mRNA:increased expression:astrocyte: RGD PMID:24260522 RGD:9587354 NCBI chr11:119,036,303...119,040,913
Ensembl chr11:119,036,305...119,040,969
JBrowse link
G Ccnh cyclin H ISO CTD Direct Evidence: marker/mechanism CTD PMID:30705370 NCBI chr13:85,189,377...85,213,731
Ensembl chr13:85,189,408...85,223,469
JBrowse link
G Cd9 CD9 antigen ISO CTD Direct Evidence: marker/mechanism CTD PMID:26573230 NCBI chr 6:125,460,266...125,494,760
Ensembl chr 6:125,460,266...125,494,791
JBrowse link
G Cdk4 cyclin-dependent kinase 4 ISO DNA:amplication RGD PMID:23796897 RGD:13702089 NCBI chr10:127,063,535...127,067,288
Ensembl chr10:127,063,534...127,067,920
JBrowse link
G Cdk6 cyclin-dependent kinase 6 severity ISO CTD Direct Evidence: marker/mechanism CTD PMID:20534551, PMID:10884881 RGD:13702095 NCBI chr 5:3,341,004...3,531,008
Ensembl chr 5:3,341,485...3,531,008
JBrowse link
G Cdkn2a cyclin dependent kinase inhibitor 2A treatment ISO RGD PMID:10720483 RGD:8552659 NCBI chr 4:89,274,473...89,294,619
Ensembl chr 4:89,274,471...89,294,653
JBrowse link
G Chaf1b chromatin assembly factor 1, subunit B (p60) ISO protein:increased expression:brain: RGD PMID:24039914 RGD:9587472 NCBI chr16:93,883,900...93,906,115
Ensembl chr16:93,883,901...93,906,115
JBrowse link
G Chil1 chitinase-like 1 ISO mRNA:increased expression:brain, tumor (human)
CTD Direct Evidence: marker/mechanism
CTD PMID:21029458, PMID:11161003 RGD:4892621 NCBI chr 1:134,182,156...134,190,031
Ensembl chr 1:134,182,176...134,190,181
JBrowse link
G Cpeb1 cytoplasmic polyadenylation element binding protein 1 disease_progression ISO RGD PMID:23360795 RGD:9685152 NCBI chr 7:81,347,026...81,458,001
Ensembl chr 7:81,347,026...81,455,465
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 PMID:23685749 PMID:23778141 PMID:26087898 PMID:26619011 PMID:27257180 PMID:28492532 PMID:29551561 NCBI chr16:4,081,334...4,213,957
Ensembl chr16:4,081,328...4,213,997
JBrowse link
G Csta2 cystatin A family member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22287159 NCBI chr16:36,221,562...36,257,447
Ensembl chr16:36,221,468...36,257,444
JBrowse link
G Cstb cystatin B ISO CTD Direct Evidence: marker/mechanism CTD PMID:22287159 NCBI chr10:78,425,670...78,427,622
Ensembl chr10:78,425,669...78,427,622
JBrowse link
G Ctnnd2 catenin (cadherin associated protein), delta 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23917401 NCBI chr15:30,172,534...31,029,344
Ensembl chr15:30,172,593...31,029,341
JBrowse link
G Ctsb cathepsin B ISO protein:increased expression:glioma cell (human)
CTD Direct Evidence: marker/mechanism
CTD PMID:22287159, PMID:17898873 RGD:2315515 NCBI chr14:63,122,462...63,145,923
Ensembl chr14:63,122,462...63,145,923
JBrowse link
G Ctsh cathepsin H ISO protein:increased expression:brain RGD PMID:8640738 RGD:1549417 NCBI chr 9:90,054,267...90,076,095
Ensembl chr 9:90,054,152...90,076,089
JBrowse link
G Ctsk cathepsin K ISO CTD Direct Evidence: marker/mechanism CTD PMID:25356585 NCBI chr 3:95,499,210...95,509,387
Ensembl chr 3:95,499,256...95,509,362
JBrowse link
G Cxcl15 chemokine (C-X-C motif) ligand 15 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16356833 NCBI chr 5:90,794,534...90,803,067
Ensembl chr 5:90,794,534...90,803,067
JBrowse link
G Deup1 deuterosome assembly protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30705370 NCBI chr 9:15,559,864...15,628,351
Ensembl chr 9:15,559,864...15,627,933
JBrowse link
G Dmbt1 deleted in malignant brain tumors 1 ISO DNA:deletion RGD PMID:9288095 RGD:1599778 NCBI chr 7:131,032,057...131,121,628
Ensembl chr 7:131,032,046...131,121,628
JBrowse link
G Dnmt3a DNA methyltransferase 3A ISO ClinVar Annotator: match by term: Glioblastoma ClinVar NCBI chr12:3,801,559...3,914,443
Ensembl chr12:3,806,007...3,914,443
JBrowse link
G Dusp6 dual specificity phosphatase 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21499306 NCBI chr10:99,263,231...99,267,489
Ensembl chr10:99,263,231...99,267,489
JBrowse link
G E2f1 E2F transcription factor 1 disease_progression ISO RGD PMID:16264179 RGD:13702471 NCBI chr 2:154,559,400...154,569,892
Ensembl chr 2:154,559,407...154,569,892
JBrowse link
G Egf epidermal growth factor susceptibility ISO CTD Direct Evidence: marker/mechanism
DNA:polymorphism:promoter:+61A>G(human)
CTD PMID:16598420, PMID:22481252 RGD:13702472 NCBI chr 3:129,677,574...129,755,322
Ensembl chr 3:129,677,565...129,755,316
JBrowse link
G Egfr epidermal growth factor receptor ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Glioblastoma multiforme, somatic
CTD
ClinVar
PMID:2302402 PMID:15118073 PMID:15118125 PMID:15329413 PMID:15710947 PMID:15738541 PMID:16011858 PMID:16115929 PMID:17177598 PMID:18199554 PMID:18458038 PMID:19204207 PMID:19536777 PMID:19671738 PMID:19922469 PMID:20479403 PMID:21531810 PMID:21841502 PMID:22753918 PMID:23102728 PMID:23242437 PMID:23917401 PMID:23945392 PMID:24033266 PMID:25157968 PMID:26455392 PMID:26619011 NCBI chr11:16,752,203...16,913,907
Ensembl chr11:16,752,203...16,918,158
JBrowse link
G Enpp1 ectonucleotide pyrophosphatase/phosphodiesterase 1 severity ISO protein:increased expression:brain (human) RGD PMID:21195542 RGD:13204719 NCBI chr10:24,637,914...24,712,159
Ensembl chr10:24,637,914...24,712,159
JBrowse link
G Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit treatment ISO RGD PMID:25595591 RGD:14928319 NCBI chr 6:47,530,274...47,595,270
Ensembl chr 6:47,530,139...47,595,341
JBrowse link
G Fabp7 fatty acid binding protein 7, brain severity ISO mRNA, protein:increased expression:brain (human) RGD PMID:15827123 RGD:1578468 NCBI chr10:57,784,923...57,788,450
Ensembl chr10:57,784,881...57,788,450
JBrowse link
G Fat1 FAT atypical cadherin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23354438 NCBI chr 8:44,933,100...45,052,257
Ensembl chr 8:44,935,447...45,052,257
JBrowse link
G Fbxw7 F-box and WD-40 domain protein 7 ISO ClinVar Annotator: match by term: Glioblastoma ClinVar PMID:26619011 NCBI chr 3:84,814,990...84,979,198
Ensembl chr 3:84,815,268...84,979,198
JBrowse link
G Fgfr1 fibroblast growth factor receptor 1 ISO ClinVar Annotator: match by term: Glioblastoma ClinVar PMID:25705862 PMID:26619011 PMID:26942290 NCBI chr 8:25,518,759...25,575,718
Ensembl chr 8:25,513,654...25,575,718
JBrowse link
G Flt3l FMS-like tyrosine kinase 3 ligand treatment ISO RGD PMID:18079358 RGD:11049502 NCBI chr 7:45,131,183...45,136,490
Ensembl chr 7:45,129,788...45,136,432
JBrowse link
G Fn1 fibronectin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17099729 NCBI chr 1:71,585,473...71,653,280
Ensembl chr 1:71,585,520...71,653,200
JBrowse link
G Fosl2 fos-like antigen 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23582323 NCBI chr 5:32,136,472...32,157,840
Ensembl chr 5:32,135,801...32,157,842
JBrowse link
G Gdnf glial cell line derived neurotrophic factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:19138852 NCBI chr15:7,810,048...7,837,580
Ensembl chr15:7,810,846...7,837,575
JBrowse link
G Grik2 glutamate receptor, ionotropic, kainate 2 (beta 2) ISO CTD Direct Evidence: marker/mechanism CTD PMID:30705370 NCBI chr10:49,093,680...49,790,161
Ensembl chr10:49,094,833...49,788,766
JBrowse link
G Gstt1 glutathione S-transferase, theta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16874663 NCBI chr10:75,783,813...75,798,584
Ensembl chr10:75,783,813...75,798,584
JBrowse link
G H2ax H2A.X variant histone ISO CTD Direct Evidence: marker/mechanism CTD PMID:26651356 NCBI chr 9:44,334,715...44,336,077
Ensembl chr 9:44,334,694...44,336,077
JBrowse link
G H3f3a H3.3 histone A ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Glioblastoma
CTD
ClinVar
PMID:22286216 PMID:23817572 PMID:26619011 PMID:26822237 NCBI chr 1:180,802,560...180,813,605
Ensembl chr 1:180,800,832...180,813,943
JBrowse link
G Heatr1 HEAT repeat containing 1 ISO mRNA, protein:increased expression:brain RGD PMID:25126583 RGD:10761721 NCBI chr13:12,395,375...12,438,893
Ensembl chr13:12,395,027...12,440,289
JBrowse link
G Hes1 hes family bHLH transcription factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21127729 NCBI chr16:30,065,357...30,067,796
Ensembl chr16:30,064,384...30,067,796
JBrowse link
G Hey1 hairy/enhancer-of-split related with YRPW motif 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21127729 NCBI chr 3:8,663,359...8,667,038
Ensembl chr 3:8,663,359...8,667,256
JBrowse link
G Hif1a hypoxia inducible factor 1, alpha subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:12811834 NCBI chr12:73,901,324...73,947,554
Ensembl chr12:73,901,375...73,947,530
JBrowse link
G Hras Harvey rat sarcoma virus oncogene severity IMP
ISO
DNA:missense mutation:cds:p.G61L(human)
ClinVar Annotator: match by term: Glioblastoma
ClinVar PMID:11150980 PMID:16155195 PMID:16170316 PMID:16329078 PMID:16372351 PMID:16443854 PMID:16835863 PMID:16881968 PMID:16969868 PMID:17054105 PMID:17412879 PMID:17979197 PMID:18039947 PMID:18247425 PMID:18978862 PMID:19206176 PMID:19371735 PMID:19382114 PMID:19669404 PMID:20660566 PMID:20979192 PMID:21686750 PMID:21834037 PMID:21850009 PMID:22087699 PMID:22317973 PMID:22495892 PMID:22499344 PMID:22683711 PMID:22926243 PMID:23093928 PMID:23429430 PMID:23751039 PMID:24033266 PMID:24129065 PMID:24169525 PMID:24224811 PMID:24803665 PMID:25157968 PMID:25741868 PMID:25914166 PMID:26619011 PMID:27195699 PMID:27589201 PMID:28027064 PMID:28139825 PMID:28492532 PMID:29493581 PMID:31394527 PMID:31775759, PMID:20879984, PMID:19179066 RGD:13702475, RGD:13702872 NCBI chr 7:141,189,934...141,194,019
Ensembl chr 7:141,189,105...141,194,005
JBrowse link
G Idh1 isocitrate dehydrogenase 1 (NADP+), soluble disease_progression
onset
ISO DNA:mutation:cds:p.R132(human)
ClinVar Annotator: match by term: Glioblastoma
ClinVar Annotator: match by term: Glioblastoma multiforme, somatic
DNA:mutation:cds:p.R132H(human)
ClinVar PMID:18772396 PMID:19657110 PMID:19798509 PMID:19818334 PMID:20946881 PMID:21352804 PMID:21446021 PMID:22160010 PMID:22397365 PMID:22417203 PMID:22898539 PMID:23558169 PMID:24606448 PMID:25043048 PMID:25157968 PMID:25741868 PMID:26619011 PMID:27993330, PMID:25495392, PMID:19765000 RGD:11074562, RGD:11522732 NCBI chr 1:65,158,616...65,186,479
Ensembl chr 1:65,158,616...65,186,500
JBrowse link
G Il16 interleukin 16 ISO protein:increased expression:brain RGD PMID:17221335 RGD:5024941 NCBI chr 7:83,642,819...83,746,028
Ensembl chr 7:83,642,825...83,745,726
JBrowse link
G Il1b interleukin 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:16356833 NCBI chr 2:129,364,569...129,371,164
Ensembl chr 2:129,364,570...129,371,139
JBrowse link
G Il2 interleukin 2 ISO CTD Direct Evidence: therapeutic CTD PMID:7719933 NCBI chr 3:37,120,713...37,125,954
Ensembl chr 3:37,120,523...37,125,959
JBrowse link
G Jag1 jagged 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21127729 NCBI chr 2:137,081,451...137,116,520
Ensembl chr 2:137,081,456...137,116,644
JBrowse link
G Jag2 jagged 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21127729 NCBI chr12:112,907,803...112,929,812
Ensembl chr12:112,907,819...112,929,776
JBrowse link
G Kcnc2 potassium voltage gated channel, Shaw-related subfamily, member 2 ISO mRNA:splice variant (human) RGD PMID:18474104 RGD:9686067 NCBI chr10:112,269,898...112,466,304
Ensembl chr10:112,271,121...112,467,024
JBrowse link
G Kdr kinase insert domain protein receptor treatment ISO RGD PMID:26325365 RGD:11529678 NCBI chr 5:75,932,827...75,979,072
Ensembl chr 5:75,932,827...75,978,458
JBrowse link
G Kras Kirsten rat sarcoma viral oncogene homolog treatment IMP
ISO
mRNA:decreased expression:brain RGD PMID:16166301, PMID:19179066 RGD:13702861, RGD:13702872 NCBI chr 6:145,216,699...145,250,420
Ensembl chr 6:145,216,699...145,250,239
JBrowse link
G L1cam L1 cell adhesion molecule ISO mRNA:decreased expression:brain, temporal lobe (human) RGD PMID:20419098 RGD:6483067 NCBI chr  X:73,853,778...73,880,838
Ensembl chr  X:73,853,778...73,896,105
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 PMID:16443854 PMID:16835863 PMID:16881968 PMID:16969868 PMID:17054105 PMID:17412879 PMID:17979197 PMID:18039947 PMID:18247425 PMID:18978862 PMID:19206176 PMID:19371735 PMID:19382114 PMID:19669404 PMID:20660566 PMID:20979192 PMID:21686750 PMID:21834037 PMID:21850009 PMID:22087699 PMID:22317973 PMID:22495892 PMID:22499344 PMID:22683711 PMID:22926243 PMID:23093928 PMID:23429430 PMID:23751039 PMID:24033266 PMID:24129065 PMID:24169525 PMID:24224811 PMID:24803665 PMID:25157968 PMID:25741868 PMID:25914166 PMID:26619011 PMID:27195699 PMID:27589201 PMID:28027064 PMID:28139825 PMID:28492532 PMID:29493581 PMID:31394527 PMID:31775759 NCBI chr 7:141,194,111...141,210,055
Ensembl chr 7:141,194,157...141,210,055
JBrowse link
G Lrrc59 leucine rich repeat containing 59 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30705370 NCBI chr11:94,629,777...94,645,223
Ensembl chr11:94,629,767...94,645,216
JBrowse link
G Ltbp4 latent transforming growth factor beta binding protein 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27270107 NCBI chr 7:27,305,140...27,339,720
Ensembl chr 7:27,305,136...27,337,692
JBrowse link
G Lztr1 leucine-zipper-like transcriptional regulator, 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23917401 NCBI chr16:17,508,260...17,526,333
Ensembl chr16:17,508,688...17,526,333
JBrowse link
G Macir macrophage immunometabolism regulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:30705370 NCBI chr 1:97,643,902...97,662,018
Ensembl chr 1:97,606,318...97,662,074
JBrowse link
G Map1lc3a microtubule-associated protein 1 light chain 3 alpha treatment ISO RGD PMID:24905460 RGD:11561946 NCBI chr 2:155,276,364...155,278,073
Ensembl chr 2:155,276,297...155,278,073
JBrowse link
G Map2k2 mitogen-activated protein kinase kinase 2 treatment ISO RGD PMID:26189368 RGD:13702862 NCBI chr10:81,105,913...81,124,697
Ensembl chr10:81,105,915...81,133,975
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 chr11:60,932,054...60,952,811
Ensembl chr11:60,932,033...60,952,811
JBrowse link
G Mdm2 transformed mouse 3T3 cell double minute 2 ISO DNA:amplication RGD PMID:23796897 RGD:13702089 NCBI chr10:117,688,875...117,710,758
Ensembl chr10:117,688,875...117,710,758
JBrowse link
G Mdm4 transformed mouse 3T3 cell double minute 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20472715 NCBI chr 1:132,986,105...133,030,587
Ensembl chr 1:132,959,484...133,030,561
JBrowse link
G Med12 mediator complex subunit 12 ISO ClinVar Annotator: match by term: Glioblastoma ClinVar PMID:26822237 NCBI chr  X:101,274,091...101,298,934
Ensembl chr  X:101,274,030...101,297,465
JBrowse link
G Met met proto-oncogene ISO CTD Direct Evidence: marker/mechanism CTD PMID:22162573 NCBI chr 6:17,463,349...17,573,980
Ensembl chr 6:17,463,800...17,573,980
JBrowse link
G Mgmt O-6-methylguanine-DNA methyltransferase ISO DNA:transition:cds:p.L84F (human)
CTD Direct Evidence: marker/mechanism
CTD PMID:20131314 PMID:22162573, PMID:14669534 RGD:2317667 NCBI chr 7:136,894,463...137,128,193
Ensembl chr 7:136,894,614...137,130,266
JBrowse link
G Mir21a microRNA 21a ameliorates ISO RGD PMID:31730913 RGD:41404645 NCBI chr11:86,584,067...86,584,158
Ensembl chr11:86,584,067...86,584,158
JBrowse link
G Mmp2 matrix metallopeptidase 2 severity ISO protein:increased expression:brain (human)
CTD Direct Evidence: marker/mechanism
CTD PMID:16598420, PMID:7616276 RGD:7207145 NCBI chr 8:92,827,290...92,853,421
Ensembl chr 8:92,827,291...92,853,420
JBrowse link
G Mmp7 matrix metallopeptidase 7 severity ISO protein:increased expression:brain (human) RGD PMID:7616276 RGD:7207145 NCBI chr 9:7,692,090...7,699,585
Ensembl chr 9:7,692,090...7,699,585
JBrowse link
G Mmp9 matrix metallopeptidase 9 severity
treatment
ISO protein:increased expression:brain (human)
CTD Direct Evidence: marker/mechanism
CTD PMID:16598420, PMID:7616276, PMID:12439751 RGD:7207145, RGD:8547973 NCBI chr 2:164,940,326...164,955,850
Ensembl chr 2:164,940,780...164,955,850
JBrowse link
G Msh2 mutS homolog 2 ISO ClinVar Annotator: match by term: Glioblastoma ClinVar PMID:25741868 NCBI chr17:87,672,532...87,723,713
Ensembl chr17:87,672,330...87,723,713
JBrowse link
G Mtor mechanistic target of rapamycin kinase ISO ClinVar Annotator: match by term: Glioblastoma
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:24631838 PMID:25741868 PMID:26018084 PMID:26619011 PMID:27159400 PMID:27830187 PMID:30705370 NCBI chr 4:148,448,582...148,557,685
Ensembl chr 4:148,448,611...148,557,683
JBrowse link
G Myc myelocytomatosis oncogene ISO CTD Direct Evidence: marker/mechanism CTD PMID:21127729 NCBI chr15:61,985,341...61,990,361
Ensembl chr15:61,985,391...61,990,374
JBrowse link
G Mycn v-myc avian myelocytomatosis viral related oncogene, neuroblastoma derived ISO ClinVar Annotator: match by term: Glioblastoma ClinVar PMID:26619011 NCBI chr12:12,936,093...12,941,836
Ensembl chr12:12,936,093...12,941,914
JBrowse link
G Ncor1 nuclear receptor co-repressor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17312396 NCBI chr11:62,315,663...62,457,414
Ensembl chr11:62,316,426...62,458,541
JBrowse link
G Ndrg1 N-myc downstream regulated gene 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15341671 NCBI chr15:66,929,318...66,969,641
Ensembl chr15:66,929,318...66,969,640
JBrowse link
G Ndrg4 N-myc downstream regulated gene 4 ISO mRNA, protein:decreased expression:brain RGD PMID:22489821 RGD:7247726 NCBI chr 8:95,676,974...95,714,956
Ensembl chr 8:95,676,980...95,715,119
JBrowse link
G Nf1 neurofibromin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25119042 NCBI chr11:79,339,590...79,581,609
Ensembl chr11:79,339,693...79,581,612
JBrowse link
G Notch1 notch 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21127729 NCBI chr 2:26,457,902...26,503,822
Ensembl chr 2:26,457,903...26,516,663
JBrowse link
G Notch2 notch 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21127729 NCBI chr 3:98,013,538...98,150,367
Ensembl chr 3:98,013,527...98,150,361
JBrowse link
G Notch3 notch 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21127729 NCBI chr17:32,120,820...32,166,896
Ensembl chr17:32,120,820...32,166,852
JBrowse link
G Nras neuroblastoma ras oncogene ISO ClinVar Annotator: match by term: Glioblastoma
DNA:amplication::
DNA:mutation:cds:c.35G>A, p.G12D(human)
ClinVar PMID:1654209 PMID:2278970 PMID:2674680 PMID:3122217 PMID:6587382 PMID:8120410 PMID:10821536 PMID:12460918 PMID:12727991 PMID:14508525 PMID:15899789 PMID:16273091 PMID:16291983 PMID:16434492 PMID:17699718 PMID:18390968 PMID:18633438 PMID:18668139 PMID:18948947 PMID:19075190 PMID:19657110 PMID:19880792 PMID:20130576 PMID:20149136 PMID:20179705 PMID:20406486 PMID:20619739 PMID:20736745 PMID:21107323 PMID:21305640 PMID:21576590 PMID:21729679 PMID:21829508 PMID:22407852 PMID:22499344 PMID:22718121 PMID:22761467 PMID:22773810 PMID:23076151 PMID:23392294 PMID:23400451 PMID:23414587 PMID:23515407 PMID:23538902 PMID:23569304 PMID:23614898 PMID:24006476 PMID:24033266 PMID:24148783 PMID:24370118 PMID:24671188 PMID:25157968 PMID:25348872 PMID:25695684 PMID:26619011 PMID:26821351 PMID:27050078 PMID:28492532 PMID:28780248, PMID:11351043, PMID:15517309 RGD:13702876, RGD:13702875 NCBI chr 3:103,058,285...103,067,914
Ensembl chr 3:103,058,285...103,067,914
JBrowse link
G Pdgfb platelet derived growth factor, B polypeptide ISO RGD PMID:21210235 RGD:6482799 NCBI chr15:79,995,865...80,024,614
Ensembl chr15:79,995,874...80,014,977
JBrowse link
G Pdgfrb platelet derived growth factor receptor, beta polypeptide treatment ISO RGD PMID:24566984 RGD:13702903 NCBI chr18:61,045,127...61,085,067
Ensembl chr18:61,045,150...61,085,061
JBrowse link
G Pdpn podoplanin ISO RGD PMID:16979138 RGD:2292241 NCBI chr 4:143,267,409...143,299,564
Ensembl chr 4:143,267,431...143,299,564
JBrowse link
G Pecam1 platelet/endothelial cell adhesion molecule 1 IDA RGD PMID:21858729 RGD:6771207 NCBI chr11:106,654,213...106,715,281
Ensembl chr11:106,654,217...106,750,628
JBrowse link
G Pgf placental growth factor disease_progression ISO RGD PMID:20458050 RGD:6483585 NCBI chr12:85,166,637...85,177,785
Ensembl chr12:85,166,635...85,177,790
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 PMID:15805248 PMID:15930273 PMID:16353168 PMID:16906227 PMID:16930767 PMID:17376864 PMID:17673550 PMID:18371219 PMID:18676830 PMID:18725974 PMID:19029981 PMID:19223544 PMID:19366826 PMID:19513541 PMID:19671852 PMID:19903786 PMID:20177704 PMID:20453058 PMID:20619739 PMID:21078999 PMID:21430269 PMID:21558396 PMID:21824802 PMID:22120714 PMID:22162582 PMID:22162589 PMID:22209294 PMID:22271473 PMID:22357840 PMID:22658544 PMID:22729222 PMID:22729223 PMID:22729224 PMID:22949682 PMID:23066039 PMID:23100325 PMID:23246288 PMID:23408298 PMID:23888070 PMID:24033266 PMID:24265155 PMID:24559322 PMID:24782230 PMID:25157968 PMID:25599672 PMID:25741868 PMID:26266975 PMID:26266985 PMID:26619011 PMID:26822237 PMID:26851524 PMID:27626068 PMID:27631024 PMID:28151489 PMID:28425981 PMID:28492532 PMID:28941273 PMID:29446767 PMID:30543347 PMID:31568861 PMID:31775759 NCBI chr 3:32,397,065...32,466,112
Ensembl chr 3:32,397,671...32,468,486
JBrowse link
G Pik3cb phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta disease_progression ISO RGD PMID:26956052, PMID:21188471 RGD:11343921, RGD:13782050 NCBI chr 9:99,038,402...99,140,235
Ensembl chr 9:99,036,654...99,140,621
JBrowse link
G Pik3cd phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta disease_progression ISO RGD PMID:24523440 RGD:13782051 NCBI chr 4:149,649,168...149,702,566
Ensembl chr 4:149,649,168...149,702,571
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 chr13:101,680,761...101,768,217
Ensembl chr13:101,680,563...101,768,217
JBrowse link
G Pim1 proviral integration site 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23724780 NCBI chr17:29,490,785...29,496,111
Ensembl chr17:29,490,753...29,496,112
JBrowse link
G Pml promyelocytic leukemia ISO CTD Direct Evidence: marker/mechanism CTD PMID:23440206 NCBI chr 9:58,217,179...58,249,796
Ensembl chr 9:58,218,076...58,249,786
JBrowse link
G Pole polymerase (DNA directed), epsilon ISO ClinVar Annotator: match by term: Glioblastoma ClinVar PMID:26619011 NCBI chr 5:110,286,319...110,337,468
Ensembl chr 5:110,286,306...110,337,474
JBrowse link
G Polk polymerase (DNA directed), kappa ISO CTD Direct Evidence: marker/mechanism CTD PMID:26651356 NCBI chr13:96,480,687...96,542,579
Ensembl chr13:96,480,690...96,542,579
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 chr 6:115,360,879...115,490,404
Ensembl chr 6:115,360,951...115,490,399
JBrowse link
G Prkn parkin RBR E3 ubiquitin protein ligase ISO CTD Direct Evidence: marker/mechanism CTD PMID:19946270 NCBI chr17:10,840,359...12,063,370
Ensembl chr17:10,840,384...12,063,361
JBrowse link
G Prom1 prominin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18679414 PMID:18829568 PMID:19718438 NCBI chr 5:43,993,621...44,102,047
Ensembl chr 5:43,993,620...44,102,032
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 PMID:9598803 PMID:9915974 PMID:10400993 PMID:10555148 PMID:10866302 PMID:10920277 PMID:10923032 PMID:11504908 PMID:11875759 PMID:15016963 PMID:15211648 PMID:15254419 PMID:15647370 PMID:16773562 PMID:16952599 PMID:17526800 PMID:17526801 PMID:17873882 PMID:17942903 PMID:18558293 PMID:18725974 PMID:18767981 PMID:19340001 PMID:19351834 PMID:19366826 PMID:19457929 PMID:19458356 PMID:19829307 PMID:19903786 PMID:20018398 PMID:20085938 PMID:20300775 PMID:20453058 PMID:20619739 PMID:20881644 PMID:21194675 PMID:21659347 PMID:21822720 PMID:21824802 PMID:21828076 PMID:21956414 PMID:22162582 PMID:22162589 PMID:22266152 PMID:22320991 PMID:22327138 PMID:22479427 PMID:22491738 PMID:22595938 PMID:23335809 PMID:23349303 PMID:23399955 PMID:23470840 PMID:23475934 PMID:24778394 PMID:25157968 PMID:25288137 PMID:25527629 PMID:25741868 PMID:26619011 PMID:26773036 PMID:26798346 PMID:27426521 PMID:27477328 PMID:27535533 PMID:28286253 PMID:28475857 PMID:28492532 PMID:28526761 PMID:29359449 PMID:29706350, PMID:16847462 RGD:2290476 NCBI chr19:32,757,577...32,826,160
Ensembl chr19:32,757,497...32,826,160
JBrowse link
G Ptgs1 prostaglandin-endoperoxide synthase 1 disease_progression ISO protein:increased expression:microglia, macrophage, RGD PMID:11121536, PMID:10229132 RGD:5688245, RGD:5688250 NCBI chr 2:36,216,742...36,258,593
Ensembl chr 2:36,230,426...36,252,272
JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 disease_progression ISO protein:increased expression:endothelial cell RGD PMID:11121536, PMID:10229132 RGD:5688245, RGD:5688250 NCBI chr 1:150,100,031...150,108,234
Ensembl chr 1:150,100,031...150,108,227
JBrowse link
G Ptk2 PTK2 protein tyrosine kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12811834 NCBI chr15:73,205,102...73,423,820
Ensembl chr15:73,205,102...73,423,280
JBrowse link
G Rb1 RB transcriptional corepressor 1 severity ISO DNA:hypermethylation:promoter: RGD PMID:11204276 RGD:13782067 NCBI chr14:73,192,858...73,325,951
Ensembl chr14:73,183,673...73,325,822
JBrowse link
G Reck reversion-inducing-cysteine-rich protein with kazal motifs ISO CTD Direct Evidence: therapeutic CTD PMID:20127710 NCBI chr 4:43,875,521...43,944,806
Ensembl chr 4:43,875,530...43,944,806
JBrowse link
G Rpl35a ribosomal protein L35A ISO mRNA:increased expression:brain (human) RGD PMID:10880769 RGD:11535077 NCBI chr16:33,056,453...33,060,189
Ensembl chr16:33,056,453...33,060,189
JBrowse link
G Rpl5 ribosomal protein L5 ISO DNA:mutations:multiple (human) RGD PMID:26892688 RGD:11535147 NCBI chr 5:107,900,508...107,909,005
Ensembl chr 5:107,900,502...107,909,005
JBrowse link
G Runx1 runt related transcription factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23582323 NCBI chr16:92,601,466...92,826,074
Ensembl chr16:92,601,466...92,826,149
JBrowse link
G Runx3 runt related transcription factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16909125 NCBI chr 4:135,120,645...135,177,990
Ensembl chr 4:135,120,652...135,177,990
JBrowse link
G Septin14 septin 14 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23917401 NCBI chr 5:129,683,391...129,704,984
Ensembl chr 5:129,683,391...129,708,512
JBrowse link
G Serping1 serine (or cysteine) peptidase inhibitor, clade G, member 1 treatment ISO RGD PMID:28880870 RGD:13525003 NCBI chr 2:84,765,360...84,775,444
Ensembl chr 2:84,765,387...84,775,444
JBrowse link
G Slx4 SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae) ISO ClinVar Annotator: match by term: Glioblastoma multiforme ClinVar PMID:25741868 NCBI chr16:3,979,105...4,003,829
Ensembl chr16:3,979,105...4,003,770
JBrowse link
G Srrt serrate RNA effector molecule homolog (Arabidopsis) ISO CTD Direct Evidence: marker/mechanism CTD PMID:30542699 NCBI chr 5:137,295,704...137,307,716
Ensembl chr 5:137,295,704...137,307,674
JBrowse link
G Suz12 SUZ12 polycomb repressive complex 2 subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:25119042 NCBI chr11:79,993,106...80,034,123
Ensembl chr11:79,993,106...80,034,123
JBrowse link
G Tes testin LIM domain protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:16909125 NCBI chr 6:17,065,149...17,105,825
Ensembl chr 6:17,065,149...17,105,828
JBrowse link
G Tgm2 transglutaminase 2, C polypeptide ISO CTD Direct Evidence: marker/mechanism|therapeutic CTD PMID:16170020 PMID:17099729 NCBI chr 2:158,116,405...158,146,392
Ensembl chr 2:158,116,402...158,146,436
JBrowse link
G Tmem135 transmembrane protein 135 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30705370 NCBI chr 7:89,140,022...89,404,703
Ensembl chr 7:89,139,714...89,404,222
JBrowse link
G Tnc tenascin C ISO RGD PMID:16928692 RGD:4889612 NCBI chr 4:63,959,785...64,047,015
Ensembl chr 4:63,959,785...64,047,015
JBrowse link
G Tnfsf10 tumor necrosis factor (ligand) superfamily, member 10 ISO CTD Direct Evidence: therapeutic CTD PMID:21877938 NCBI chr 3:27,317,077...27,339,665
Ensembl chr 3:27,317,028...27,342,427
JBrowse link
G Trmt11 tRNA methyltransferase 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30705370 NCBI chr10:30,534,225...30,602,149
Ensembl chr10:30,534,225...30,600,749
JBrowse link
G Trp53 transformation related protein 53 ISO
IEA
ClinVar Annotator: match by term: Glioblastoma
ClinVar Annotator: match by term: Glioblastoma, somatic
ClinVar
MouseDO
PMID:1349175 PMID:1359493 PMID:1565143 PMID:1565144 PMID:1591732 PMID:1631137 PMID:1679237 PMID:1683921 PMID:1978757 PMID:2046748 PMID:2113594 PMID:2259385 PMID:2531845 PMID:2554494 PMID:2826609 PMID:7565304 PMID:7651740 PMID:7707106 PMID:7732013 PMID:7783166 PMID:7791795 PMID:7887414 PMID:8023157 PMID:8062826 PMID:8080050 PMID:8099841 PMID:8118819 PMID:8164043 PMID:8401536 PMID:8423216 PMID:8425176 PMID:8479749 PMID:8527048 PMID:8550239 PMID:8633021 PMID:8718514 PMID:8825920 PMID:8829627 PMID:8869100 PMID:9020384 PMID:9047394 PMID:9049183 PMID:9157982 PMID:9218725 PMID:9242456 PMID:9268986 PMID:9290701 PMID:9364015 PMID:9407971 PMID:9525742 PMID:9546439 PMID:9569050 PMID:9598730 PMID:9632751 PMID:9662334 PMID:9667734 PMID:9825943 PMID:9839505 PMID:10064694 PMID:10229196 PMID:10411893 PMID:10432928 PMID:10519380 PMID:10567903 PMID:10589545 PMID:10616528 PMID:10713666 PMID:10761705 PMID:10797439 PMID:10864200 PMID:10871862 PMID:10922393 PMID:10949938 PMID:11051239 PMID:11101847 PMID:11139324 PMID:11180592 PMID:11370630 PMID:11429705 PMID:11479205 PMID:11590071 PMID:11593407 PMID:11782540 PMID:11793474 PMID:11896595 PMID:11920788 PMID:11920959 PMID:12007217 PMID:12406399 PMID:12509279 PMID:12619118 PMID:12672316 PMID:12695689 PMID:12700230 PMID:12726864 PMID:12826609 PMID:12885464 PMID:12909720 PMID:12917626 PMID:14584079 PMID:14673037 PMID:15004724 PMID:15017592 PMID:15037740 PMID:15381368 PMID:15390294 PMID:15607980 PMID:15607981 PMID:15722483 PMID:15825182 PMID:15850016 PMID:15925506 PMID:15951970 PMID:15977174 PMID:15982667 PMID:16209708 PMID:16312222 PMID:16322298 PMID:16337994 PMID:16401470 PMID:16489069 PMID:16494995 PMID:16508005 PMID:16551709 PMID:16633321 PMID:16682957 PMID:16736287 PMID:16778209 PMID:16818505 PMID:16827139 PMID:16861262 PMID:17015838 PMID:17170001 PMID:17311302 PMID:17390010 PMID:17401428 PMID:17417627 PMID:17427234 PMID:17530187 PMID:17540308 PMID:17541742 PMID:17572079 PMID:17606709 PMID:17636407 PMID:17724467 PMID:17875924 PMID:18208484 PMID:18307025 PMID:18391940 PMID:18453682 PMID:18511570 PMID:18555592 PMID:18628487 PMID:18685109 PMID:18989156 PMID:19012332 PMID:19101993 PMID:19127115 PMID:19147582 PMID:19171880 PMID:19336573 PMID:19367569 PMID:19378321 PMID:19405127 PMID:19462533 PMID:19468865 PMID:19556618 PMID:19681600 PMID:19850740 PMID:19881536 PMID:19913028 PMID:19930417 PMID:20013323 PMID:20028212 PMID:20113312 PMID:20127978 PMID:20128691 PMID:20234365 PMID:20364130 PMID:20407015 PMID:20505364 PMID:20506564 PMID:20516128 PMID:20522432 PMID:20689556 PMID:20693561 PMID:20805372 PMID:20878954 PMID:20972454 PMID:21059199 PMID:21115975 PMID:21159183 PMID:21187651 PMID:21232794 PMID:21305319 PMID:21343334 PMID:21356188 PMID:21484931 PMID:21514416 PMID:21519010 PMID:21535297 PMID:21552135 PMID:21601526 PMID:21626334 PMID:21674059 PMID:21747090 PMID:21761402 PMID:22006311 PMID:22052707 PMID:22110706 PMID:22114072 PMID:22186996 PMID:22198284 PMID:22233476 PMID:22265402 PMID:22319594 PMID:22427690 PMID:22540896 PMID:22672556 PMID:22698404 PMID:22710932 PMID:22713868 PMID:22768918 PMID:22811390 PMID:22844452 PMID:22866089 PMID:22887876 PMID:22899716 PMID:22915647 PMID:22919068 PMID:22923379 PMID:23031740 PMID:23161690 PMID:23172776 PMID:23246812 PMID:23259501 PMID:23263379 PMID:23265383 PMID:23315175 PMID:23406775 PMID:23538418 PMID:23630318 PMID:23667202 PMID:23713777 PMID:23792586 PMID:23894400 PMID:23950206 PMID:24033266 PMID:24038938 PMID:24122735 PMID:24307375 PMID:24381225 PMID:24384472 PMID:24395441 PMID:24487413 PMID:24501221 PMID:24549055 PMID:24573247 PMID:24590827 PMID:24603336 PMID:24641375 PMID:24651012 PMID:24651015 PMID:24677579 PMID:24702488 PMID:24728327 PMID:24766216 PMID:24810334 PMID:24835218 PMID:25119136 PMID:25157968 PMID:25293557 PMID:25294809 PMID:25339994 PMID:25433984 PMID:25503501 PMID:25504633 PMID:25525159 PMID:25584008 PMID:25584637 PMID:25619955 PMID:25634208 PMID:25669829 PMID:25691460 PMID:25741868 PMID:25787918 PMID:25896519 PMID:25925845 PMID:25927356 PMID:25952993 PMID:25980754 PMID:26014290 PMID:26022348 PMID:26024390 PMID:26205489 PMID:26225655 PMID:26230955 PMID:26270727 PMID:26271412 PMID:26467025 PMID:26497680 PMID:26534844 PMID:26556299 PMID:26585234 PMID:26619011 PMID:26628864 PMID:26681312 PMID:26781615 PMID:26786923 PMID:26787237 PMID:26818906 PMID:26822237 PMID:26845104 PMID:26878390 PMID:26911350 PMID:26976419 PMID:27022024 PMID:27077130 PMID:27153395 PMID:27179933 PMID:27189670 PMID:27276561 PMID:27276934 PMID:27374712 PMID:27463065 PMID:27493922 PMID:27501770 PMID:27516001 PMID:27523101 PMID:27533082 PMID:27616075 PMID:27621308 PMID:27680515 PMID:27683180 PMID:27714481 PMID:27724982 PMID:27895058 PMID:27959731 PMID:28152038 PMID:28279309 PMID:28349240 PMID:28369373 PMID:28453743 PMID:28472496 PMID:28477316 PMID:28492532 PMID:28724667 PMID:28802053 PMID:28861920 PMID:28975465 PMID:29025599 PMID:29070607 PMID:29126202 PMID:29324801 PMID:29470806 PMID:29478780 PMID:29489754 PMID:29581140 PMID:29752822 PMID:29753700 PMID:29979965 PMID:30076369 PMID:30128536 PMID:30216591 PMID:30224644 PMID:30297838 PMID:30299350 PMID:30306255 PMID:30311369 PMID:30327374 PMID:30352134 PMID:30450585 PMID:30675318 PMID:30720243 PMID:30816478 PMID:30840781 PMID:30918304 PMID:31016814 PMID:31206626 PMID:31775759 PMID:32000721 PMID:32295079 NCBI chr11:69,580,348...69,591,873
Ensembl chr11:69,580,359...69,591,873
JBrowse link
G Trp53bp1 transformation related protein 53 binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30705370 NCBI chr 2:121,194,835...121,296,354
Ensembl chr 2:121,193,281...121,271,407
JBrowse link
G Vegfa vascular endothelial growth factor A ISO CTD Direct Evidence: marker/mechanism CTD PMID:16356833 NCBI chr17:46,016,993...46,032,377
Ensembl chr17:46,016,993...46,032,369
JBrowse link
G Wt1 Wilms tumor 1 homolog ISO CTD Direct Evidence: marker/mechanism CTD PMID:20820871 NCBI chr 2:105,126,529...105,173,614
Ensembl chr 2:105,126,529...105,173,616
JBrowse link
G Zbtb7a zinc finger and BTB domain containing 7a ISO CTD Direct Evidence: marker/mechanism CTD PMID:25875864 NCBI chr10:81,135,225...81,152,222
Ensembl chr10:81,135,220...81,152,995
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 chr14:73,192,858...73,325,951
Ensembl chr14:73,183,673...73,325,822
JBrowse link
gliosarcoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccl2 chemokine (C-C motif) ligand 2 severity IMP mouse gene in a rat model RGD PMID:7489565 RGD:11526112 NCBI chr11:82,035,577...82,037,452
Ensembl chr11:82,035,571...82,037,453
JBrowse link
G Cyp2b10 cytochrome P450, family 2, subfamily b, polypeptide 10 ISO CTD Direct Evidence: therapeutic CTD PMID:9766669 PMID:11389073 NCBI chr 7:25,897,658...25,926,624
Ensembl chr 7:25,897,620...25,926,624
JBrowse link
G Cyp2c55 cytochrome P450, family 2, subfamily c, polypeptide 55 ISO CTD Direct Evidence: therapeutic CTD PMID:9766669 NCBI chr19:39,006,940...39,042,690
Ensembl chr19:39,007,019...39,042,693
JBrowse link
G Plau plasminogen activator, urokinase severity IMP mouse gene in rat model RGD PMID:20606645 RGD:7241591 NCBI chr14:20,836,662...20,843,388
Ensembl chr14:20,836,660...20,843,385
JBrowse link
G Por cytochrome p450 oxidoreductase ISO CTD Direct Evidence: therapeutic CTD PMID:9766669 NCBI chr 5:135,670,040...135,735,326
Ensembl chr 5:135,670,033...135,735,326
JBrowse link
G Ptgs1 prostaglandin-endoperoxide synthase 1 ISO protein:increased expression:microglia, macrophage, RGD PMID:10229132 RGD:5688250 NCBI chr 2:36,216,742...36,258,593
Ensembl chr 2:36,230,426...36,252,272
JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 ISO protein:increased expression:endothelial cell RGD PMID:10229132 RGD:5688250 NCBI chr 1:150,100,031...150,108,234
Ensembl chr 1:150,100,031...150,108,227
JBrowse link
G Vegfa vascular endothelial growth factor A ISO CTD Direct Evidence: marker/mechanism CTD PMID:16533777 NCBI chr17:46,016,993...46,032,377
Ensembl chr17:46,016,993...46,032,369
JBrowse link
high grade glioma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 4930550C14Rik RIKEN cDNA 4930550C14 gene ISO ClinVar Annotator: match by term: Malignant Glioma ClinVar PMID:8659541 PMID:8808599 PMID:9000145 PMID:9463314 PMID:10330348 PMID:10817650 PMID:10980530 PMID:11298136 PMID:21445571 PMID:21459046 PMID:21792198 PMID:23807571 PMID:25614872 PMID:25741868 PMID:28492532 PMID:30549301 NCBI chr 9:53,402,713...53,434,426
Ensembl chr 9:53,402,325...53,434,402
JBrowse link
G Abcb1b ATP-binding cassette, sub-family B (MDR/TAP), member 1B ISO RGD PMID:16574265 RGD:1598564 NCBI chr 5:8,798,147...8,866,314
Ensembl chr 5:8,798,147...8,866,315
JBrowse link
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 PMID:24705250 PMID:24705251 PMID:24705252 PMID:24705254 PMID:25326637 PMID:25741868 PMID:26619011 PMID:31779674 NCBI chr 2:58,446,438...58,566,828
Ensembl chr 2:58,388,644...58,567,157
JBrowse link
G Adgra2 adhesion G protein-coupled receptor A2 ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr 8:27,085,520...27,123,436
Ensembl chr 8:27,085,583...27,123,436
JBrowse link
G Akt2 thymoma viral proto-oncogene 2 ISO protein:increased expression:cytoplasm (human) RGD PMID:19330838, PMID:19330838 RGD:2313297, RGD:2313297 NCBI chr 7:27,591,552...27,640,826
Ensembl chr 7:27,591,552...27,640,826
JBrowse link
G Angpt2 angiopoietin 2 ISO protein:increased expression:brain (rat) RGD PMID:18615861 RGD:2314189 NCBI chr 8:18,690,263...18,741,562
Ensembl chr 8:18,690,263...18,741,562
JBrowse link
G Apod apolipoprotein D ISO CTD Direct Evidence: marker/mechanism CTD PMID:16865689 NCBI chr16:31,296,192...31,314,808
Ensembl chr16:31,296,192...31,314,808
JBrowse link
G Araf Araf proto-oncogene, serine/threonine kinase disease_progression ISO RGD PMID:27852048 RGD:13702476 NCBI chr  X:20,797,707...20,860,521
Ensembl chr  X:20,797,814...20,860,519
JBrowse link
G Areg amphiregulin ISO RGD PMID:8621257 RGD:2292668 NCBI chr 5:91,139,599...91,148,432
Ensembl chr 5:91,139,599...91,148,432
JBrowse link
G Arhgap32 Rho GTPase activating protein 32 ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr 9:32,016,625...32,268,443
Ensembl chr 9:32,116,136...32,268,446
JBrowse link
G Arid1b AT rich interactive domain 1B (SWI-like) ISO ClinVar Annotator: match by term: Astrocytoma ClinVar PMID:25741868 NCBI chr17:4,994,297...5,347,656
Ensembl chr17:4,994,332...5,347,656
JBrowse link
G Arl2 ADP-ribosylation factor-like 2 ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr19:6,134,389...6,141,137
Ensembl chr19:6,134,374...6,141,548
JBrowse link
G Aspm abnormal spindle microtubule assembly disease_progression ISO mRNA:increased expression:brain: RGD PMID:20142996 RGD:13442488 NCBI chr 1:139,454,188...139,494,088
Ensembl chr 1:139,454,772...139,494,091
JBrowse link
G Atg2a autophagy related 2A ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr19:6,241,478...6,262,304
Ensembl chr19:6,241,668...6,262,335
JBrowse link
G Atg7 autophagy related 7 treatment ISO RGD PMID:25542083 RGD:11557994 NCBI chr 6:114,643,127...114,860,604
Ensembl chr 6:114,643,097...114,860,614
JBrowse link
G Atm ataxia telangiectasia mutated ISO ClinVar Annotator: match by term: Malignant Glioma ClinVar PMID:8659541 PMID:8808599 PMID:9000145 PMID:9463314 PMID:10330348 PMID:10817650 PMID:10980530 PMID:11298136 PMID:21445571 PMID:21459046 PMID:21792198 PMID:23807571 PMID:25614872 PMID:25741868 PMID:28492532 PMID:30549301 NCBI chr 9:53,437,122...53,536,828
Ensembl chr 9:53,439,149...53,536,740
JBrowse link
G Atp1b2 ATPase, Na+/K+ transporting, beta 2 polypeptide ISO CTD Direct Evidence: marker/mechanism CTD PMID:16865689 NCBI chr11:69,599,728...69,605,978
Ensembl chr11:69,599,736...69,605,942
JBrowse link
G Atrx ATRX, chromatin remodeler ISO DNA:mutations: :multiple
CTD Direct Evidence: marker/mechanism
CTD PMID:23583981 PMID:24705251, PMID:23104868 RGD:11040587 NCBI chr  X:105,797,615...105,929,372
Ensembl chr  X:105,797,615...105,929,403
JBrowse link
G Bad BCL2-associated agonist of cell death IEP
ISO
protein:increased phosphorylation:brain
ClinVar Annotator: match by term: Brainstem glioma
ClinVar PMID:16944316 RGD:2292675 NCBI chr19:6,941,861...6,951,905
Ensembl chr19:6,941,861...6,951,899
JBrowse link
G Banp BTG3 associated nuclear protein ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr 8:121,947,972...122,029,260
Ensembl chr 8:121,949,750...122,029,258
JBrowse link
G Barhl1 BarH like homeobox 1 ISO protein:increased expression:brain: RGD PMID:28956815 RGD:14390165 NCBI chr 2:28,907,680...28,917,984
Ensembl chr 2:28,907,679...28,916,668
JBrowse link
G Batf2 basic leucine zipper transcription factor, ATF-like 2 ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr19:6,164,397...6,172,476
Ensembl chr19:6,140,983...6,172,476
JBrowse link
G Bcan brevican severity ISO protein:increased expression:brain: RGD PMID:12799382, PMID:23253190, PMID:16061654, PMID:11585735 RGD:14392782, RGD:14392804, RGD:14392797, RGD:14392783 NCBI chr 3:87,987,531...88,002,175
Ensembl chr 3:87,987,531...88,000,230
JBrowse link
G Bdkrb2 bradykinin receptor, beta 2 ISO mRNA:increased expression:brain RGD PMID:20080302 RGD:4891047 NCBI chr12:105,563,172...105,595,244
Ensembl chr12:105,563,226...105,595,237
JBrowse link
G Birc5 baculoviral IAP repeat-containing 5 ISO protein:increased expression:brain RGD PMID:17701349 RGD:2293131 NCBI chr11:117,849,237...117,855,743
Ensembl chr11:117,849,251...117,855,743
JBrowse link
G Bmi1 Bmi1 polycomb ring finger oncogene ISO CTD Direct Evidence: marker/mechanism CTD PMID:23383216 NCBI chr 2:18,677,018...18,686,629
Ensembl chr 2:18,677,018...18,686,629
JBrowse link
G Braf Braf transforming gene ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Brainstem glioma
CTD
ClinVar
PMID:12068308 PMID:12198537 PMID:12447372 PMID:12460918 PMID:12460919 PMID:12619120 PMID:12644542 PMID:12670889 PMID:12794760 PMID:12960123 PMID:14513361 PMID:14602780 PMID:14679157 PMID:15001635 PMID:15035987 PMID:15126572 PMID:15181070 PMID:15342696 PMID:15356022 PMID:15386408 PMID:15687339 PMID:15998781 PMID:16015629 PMID:16174717 PMID:16187918 PMID:16772349 PMID:17374713 PMID:17488796 PMID:17785355 PMID:18398503 PMID:19001320 PMID:19010912 PMID:19018267 PMID:19238210 PMID:19404918 PMID:19537845 PMID:19561230 PMID:20008640 PMID:20350999 PMID:20413299 PMID:20619739 PMID:20630094 PMID:20818844 PMID:20823850 PMID:20857202 PMID:21107320 PMID:21107323 PMID:21129611 PMID:21156289 PMID:21163703 PMID:21426297 PMID:21483012 PMID:21502544 PMID:21639808 PMID:21641636 PMID:21683865 PMID:21975775 PMID:22038996 PMID:22048237 PMID:22113612 PMID:22180495 PMID:22281684 PMID:22351686 PMID:22356324 PMID:22389471 PMID:22448344 PMID:22536370 PMID:22586120 PMID:22608338 PMID:22649091 PMID:22663011 PMID:22735384 PMID:22743296 PMID:22773810 PMID:22805292 PMID:22972589 PMID:22997239 PMID:23020132 PMID:23031422 PMID:23251002 PMID:23302800 PMID:23325582 PMID:23470635 PMID:23524406 PMID:23549875 PMID:23583981 PMID:23614898 PMID:23685455 PMID:23812671 PMID:23833300 PMID:23845441 PMID:23918947 PMID:24107445 PMID:24112392 PMID:24163374 PMID:24388723 PMID:24508103 PMID:24512911 PMID:24576830 PMID:24583796 PMID:24586605 PMID:24594804 PMID:24670642 PMID:24717435 PMID:25024077 PMID:25037139 PMID:25079330 PMID:25157968 PMID:25265492 PMID:25265494 PMID:25370471 PMID:25399551 PMID:25741868 PMID:25950823 PMID:25989278 PMID:26619011 PMID:26678033 PMID:27404270 PMID:27480103 PMID:28854169 PMID:28891408 PMID:29925953 PMID:31779674 PMID:31891627 NCBI chr 6:39,603,231...39,725,658
Ensembl chr 6:39,603,237...39,725,463
JBrowse link
G Brca2 breast cancer 2, early onset ISO ClinVar Annotator: match by term: Glioma susceptibility 3
ClinVar Annotator: match by term: Brainstem glioma
OMIM
ClinVar
PMID:8673090 PMID:9150172 PMID:9667259 PMID:9792861 PMID:10644434 PMID:11149425 PMID:11179017 PMID:11307153 PMID:11802209 PMID:12373604 PMID:14559878 PMID:14647210 PMID:14670928 PMID:15070707 PMID:15340362 PMID:15382066 PMID:15689453 PMID:15800311 PMID:16168118 PMID:16683254 PMID:16825431 PMID:16912212 PMID:17148771 PMID:17513806 PMID:17688236 PMID:17972171 PMID:18042939 PMID:18465347 PMID:18703817 PMID:19016756 PMID:19654294 PMID:19863560 PMID:20104584 PMID:20167696 PMID:20694749 PMID:20736950 PMID:20858050 PMID:21120943 PMID:21205087 PMID:21324516 PMID:21709188 PMID:21913181 PMID:22006311 PMID:22009639 PMID:22217648 PMID:22535016 PMID:22666503 PMID:22762150 PMID:22798144 PMID:22923021 PMID:23199084 PMID:23318356 PMID:23415752 PMID:23569316 PMID:23621881 PMID:23767878 PMID:24033266 PMID:24055113 PMID:24156927 PMID:24504028 PMID:24728189 PMID:24830819 PMID:25066507 PMID:25085752 PMID:25136594 PMID:25186627 PMID:25525159 PMID:25637381 PMID:25737278 PMID:25741868 PMID:25802882 PMID:25863477 PMID:26064523 PMID:26187060 PMID:26295337 PMID:26439132 PMID:26467025 PMID:26541979 PMID:26657402 PMID:26681312 PMID:26845104 PMID:27153395 PMID:27257965 PMID:27376475 PMID:27732944 PMID:27741520 PMID:27767231 PMID:27831900 PMID:28008555 PMID:28039656 PMID:28294317 PMID:28324225 PMID:28492532 PMID:28541631 PMID:28616458 PMID:28724667 PMID:28915716 PMID:28973083 PMID:29339979 PMID:29360161 PMID:29371908 PMID:29478780 PMID:29492181 PMID:29753700 PMID:29907814 PMID:29909963 PMID:30287823 PMID:30350268 PMID:32295079 NCBI chr 5:150,522,297...150,570,147
Ensembl chr 5:150,522,630...150,570,329
JBrowse link
G Brd7 bromodomain containing 7 ISO protein:increased expression:brain: RGD PMID:24404152 RGD:9586441 NCBI chr 8:88,329,894...88,362,252
Ensembl chr 8:88,331,039...88,362,194
JBrowse link
G C3 complement component 3 treatment IMP RGD PMID:21678475 RGD:7401275 NCBI chr17:57,203,967...57,228,136
Ensembl chr17:57,203,970...57,228,136
JBrowse link
G Cacng2 calcium channel, voltage-dependent, gamma subunit 2 ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr15:77,991,919...78,120,220
Ensembl chr15:77,991,748...78,120,028
JBrowse link
G Camk2a calcium/calmodulin-dependent protein kinase II alpha disease_progression ISO RGD PMID:29393370 RGD:13702478 NCBI chr18:60,925,307...60,988,152
Ensembl chr18:60,925,618...60,988,152
JBrowse link
G Camk2b calcium/calmodulin-dependent protein kinase II, beta disease_progression IEP RGD PMID:15750623 RGD:13702479 NCBI chr11:5,969,629...6,066,357
Ensembl chr11:5,969,644...6,066,362
JBrowse link
G Camkk2 calcium/calmodulin-dependent protein kinase kinase 2, beta disease_progression ISO RGD PMID:27012733 RGD:13674178 NCBI chr 5:122,718,380...122,779,522
Ensembl chr 5:122,731,170...122,779,409
JBrowse link
G Capn1 calpain 1 ISO ClinVar Annotator: match by term: Brainstem glioma ClinVar NCBI chr19:5,988,545...6,015,825
Ensembl chr19:5,988,545...6,015,897
JBrowse link
G Cat catalase ISO CTD Direct Evidence: marker/mechanism CTD PMID:21138464 NCBI chr 2:103,453,904...103,485,153
Ensembl chr 2:103,453,849...103,485,160
JBrowse link
G Catsperz cation channel sperm associated auxiliary subunit zeta ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr19:6,922,426...6,925,380
Ensembl chr19:6,922,371...6,925,380
JBrowse link
G Cav1 caveolin 1, caveolae protein ISO RGD PMID:22528460 RGD:6784517 NCBI chr 6:17,306,335...17,341,328
Ensembl chr 6:17,306,335...17,341,452
JBrowse link
G Cav2 caveolin 2 ISO RGD PMID:22528460 RGD:6784517 NCBI chr 6:17,281,185...17,289,130
Ensembl chr 6:17,281,185...17,289,115
JBrowse link
G Ccdc88b coiled-coil domain containing 88B ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr19:6,844,623...6,858,222
Ensembl chr19:6,844,623...6,858,211
JBrowse link
G Ccnd1 cyclin D1 susceptibility
disease_progression
ISO
IMP
RGD PMID:22304571, PMID:21844184, PMID:21844184 RGD:13681930, RGD:13702091, RGD:13702091 NCBI chr 7:144,929,931...144,939,831
Ensembl chr 7:144,929,931...144,939,925
JBrowse link
G Ccr4 chemokine (C-C motif) receptor 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17522861 NCBI chr 9:114,490,316...114,505,476
Ensembl chr 9:114,490,316...114,504,916
JBrowse link
G Cd40 CD40 antigen treatment IMP RGD PMID:24878890 RGD:11352275 NCBI chr 2:165,055,614...165,071,654
Ensembl chr 2:165,055,627...165,072,948
JBrowse link
G Cd80 CD80 antigen ISO RGD PMID:10078962 RGD:727266 NCBI chr16:38,457,430...38,495,958
Ensembl chr16:38,455,561...38,496,335
JBrowse link
G Cdc42bpg CDC42 binding protein kinase gamma (DMPK-like) ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr19:6,306,253...6,325,653
Ensembl chr19:6,306,456...6,325,652
JBrowse link
G Cdc42ep2 CDC42 effector protein (Rho GTPase binding) 2 ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr19:5,917,556...5,924,816
Ensembl chr19:5,915,636...5,924,816
JBrowse link
G Cdca5 cell division cycle associated 5 ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr19:6,085,097...6,091,773
Ensembl chr19:6,084,983...6,091,777
JBrowse link
G Cdk4 cyclin-dependent kinase 4 disease_progression ISO
IMP
RGD PMID:23761023, PMID:21844184 RGD:13702090, RGD:13702091 NCBI chr10:127,063,535...127,067,288
Ensembl chr10:127,063,534...127,067,920
JBrowse link
G Cdk6 cyclin-dependent kinase 6 severity ISO DNA:amplification: RGD PMID:22736304, PMID:9102208 RGD:13702093, RGD:13702094 NCBI chr 5:3,341,004...3,531,008
Ensembl chr 5:3,341,485...3,531,008
JBrowse link
G Cdkn1a cyclin-dependent kinase inhibitor 1A (P21) severity
treatment
ISO DNA:hypermethylation:promoter: RGD PMID:20844987, PMID:9144534, PMID:18791688 RGD:13702125, RGD:13702129, RGD:13702128 NCBI chr17:29,090,979...29,100,722
Ensembl chr17:29,090,976...29,100,727
JBrowse link
G Cdkn2a cyclin dependent kinase inhibitor 2A disease_progression ISO DNA:deletions
CTD Direct Evidence: marker/mechanism
CTD PMID:15814359 PMID:19578367, PMID:11314047 RGD:8552305 NCBI chr 4:89,274,473...89,294,619
Ensembl chr 4:89,274,471...89,294,653
JBrowse link
G Cdkn2b cyclin dependent kinase inhibitor 2B ISO CTD Direct Evidence: marker/mechanism CTD PMID:19578366 PMID:19578367 NCBI chr 4:89,306,289...89,311,032
Ensembl chr 4:89,306,299...89,311,039
JBrowse link
G Chaf1a chromatin assembly factor 1, subunit A (p150) susceptibility ISO DNA:SNP:intron:rs243356(human) RGD PMID:18048407 RGD:9587459 NCBI chr17:56,040,416...56,068,026
Ensembl chr17:56,040,439...56,072,289
JBrowse link
G Chaf1b chromatin assembly factor 1, subunit B (p60) disease_progression ISO protein:increased expression:brain: RGD PMID:24039914 RGD:9587472 NCBI chr16:93,883,900...93,906,115
Ensembl chr16:93,883,901...93,906,115
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 PMID:12094328 PMID:12533788 PMID:12690581 PMID:14648717 PMID:14648718 PMID:14648719 PMID:15087378 PMID:15122511 PMID:15466005 PMID:15488637 PMID:15492928 PMID:15520402 PMID:16257342 PMID:16492927 PMID:16880452 PMID:17085682 PMID:18172190 PMID:19338683 PMID:19805189 PMID:21779515 PMID:21807500 PMID:21956126 PMID:22006311 PMID:22058428 PMID:22419737 PMID:22811390 PMID:22994785 PMID:23329222 PMID:23415889 PMID:23469205 PMID:24033266 PMID:24723567 PMID:24884479 PMID:25431674 PMID:25741868 PMID:26084796 PMID:26332814 PMID:26467025 PMID:26641009 PMID:26681312 PMID:26822237 PMID:26845104 PMID:26884562 PMID:26976419 PMID:27083775 PMID:27153395 PMID:27223485 PMID:27269948 PMID:27433846 PMID:27751358 PMID:27798748 PMID:28125075 PMID:28135145 PMID:28195393 PMID:28492532 PMID:28503720 PMID:28514723 PMID:28727877 PMID:28734145 PMID:28779002 PMID:28802053 PMID:28874143 PMID:29146883 PMID:29351919 PMID:29489754 PMID:29522266 PMID:31300551 PMID:31993860 PMID:32119081 PMID:32285038 PMID:32295079 PMID:32383162 PMID:32531112 NCBI chr 5:110,839,800...110,874,140
Ensembl chr 5:110,839,979...110,874,145
JBrowse link
G Chil1 chitinase-like 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20506295 NCBI chr 1:134,182,156...134,190,031
Ensembl chr 1:134,182,176...134,190,181
JBrowse link
G Clcn2 chloride channel, voltage-sensitive 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12843258 NCBI chr16:20,702,435...20,717,746
Ensembl chr16:20,702,964...20,717,746
JBrowse link
G Clcn3 chloride channel, voltage-sensitive 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12843258 NCBI chr 8:60,910,389...60,983,317
Ensembl chr 8:60,910,389...60,983,300
JBrowse link
G Clcn5 chloride channel, voltage-sensitive 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12843258 NCBI chr  X:7,153,810...7,319,358
Ensembl chr  X:7,153,810...7,319,358
JBrowse link
G Cntn2 contactin 2 severity ISO RGD PMID:11280781 RGD:734799 NCBI chr 1:132,509,425...132,543,251
Ensembl chr 1:132,509,427...132,543,256
JBrowse link
G Cox8a cytochrome c oxidase subunit 8A ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr19:7,215,158...7,217,616
Ensembl chr19:7,215,153...7,217,616
JBrowse link
G Csf1 colony stimulating factor 1 (macrophage) ISO RGD PMID:15728459 RGD:2293641 NCBI chr 3:107,741,048...107,760,469
Ensembl chr 3:107,741,048...107,760,469
JBrowse link
G Ctsb cathepsin B ISO RGD PMID:17287256 RGD:2315520 NCBI chr14:63,122,462...63,145,923
Ensembl chr14:63,122,462...63,145,923
JBrowse link
G Cxcr3 chemokine (C-X-C motif) receptor 3 ISO RGD PMID:16434036 RGD:5135509 NCBI chr  X:101,731,535...101,734,147
Ensembl chr  X:101,731,535...101,734,269
JBrowse link
G Cyp2b10 cytochrome P450, family 2, subfamily b, polypeptide 10 ISO CTD Direct Evidence: therapeutic CTD PMID:7834628 NCBI chr 7:25,897,658...25,926,624
Ensembl chr 7:25,897,620...25,926,624
JBrowse link
G Cyp2e1 cytochrome P450, family 2, subfamily e, polypeptide 1 ISO DNA:snp:promoter:c.-1053C>T (human) RGD PMID:12540498 RGD:1358568 NCBI chr 7:140,763,819...140,774,990
Ensembl chr 7:140,763,739...140,774,987
JBrowse link
G Dcn decorin disease_progression ISO RGD PMID:15475879 RGD:2311425 NCBI chr10:97,479,500...97,518,163
Ensembl chr10:97,479,609...97,518,143
JBrowse link
G Dcx doublecortin disease_progression
treatment
IMP
ISO
RGD PMID:17178868, PMID:21477071, PMID:19681167 RGD:12904748, RGD:12904761, RGD:12904754 NCBI chr  X:143,855,842...143,933,396
Ensembl chr  X:143,855,842...143,933,311
JBrowse link
G Depdc5 DEP domain containing 5 ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr 5:32,863,646...32,994,233
Ensembl chr 5:32,863,701...32,994,236
JBrowse link
G Dlk1 delta like non-canonical Notch ligand 1 ISO RGD PMID:16288219 RGD:1625600 NCBI chr12:109,452,485...109,463,336
Ensembl chr12:109,452,823...109,463,336
JBrowse link
G Dmxl1 Dmx-like 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16865689 NCBI chr18:49,832,590...49,965,473
Ensembl chr18:49,832,670...49,965,473
JBrowse link
G Dnajc4 DnaJ heat shock protein family (Hsp40) member C4 ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr19:6,987,911...6,992,591
Ensembl chr19:6,987,911...6,992,572
JBrowse link
G Dpf2 D4, zinc and double PHD fingers family 2 ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr19:5,896,516...5,912,871
Ensembl chr19:5,896,516...5,913,010
JBrowse link
G Dupd1 dual specificity phosphatase and pro isomerase domain containing 1 ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr14:21,676,565...21,714,576
Ensembl chr14:21,676,537...21,714,576
JBrowse link
G E2f1 E2F transcription factor 1 severity ISO RGD PMID:28042322 RGD:13702468 NCBI chr 2:154,559,400...154,569,892
Ensembl chr 2:154,559,407...154,569,892
JBrowse link
G E2f3 E2F transcription factor 3 disease_progression ISO RGD PMID:28337965 RGD:13702470 NCBI chr13:29,906,575...29,986,064
Ensembl chr13:29,906,575...29,986,063
JBrowse link
G Efemp1 epidermal growth factor-containing fibulin-like extracellular matrix protein 1 ISO protein:increased expression:brain: RGD PMID:19887559 RGD:10401656 NCBI chr11:28,853,154...28,926,743
Ensembl chr11:28,853,204...28,926,743
JBrowse link
G Efl1 elongation factor like GTPase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25015090 NCBI chr 7:82,648,603...82,777,852
Ensembl chr 7:82,648,614...82,777,852
JBrowse link
G Egf epidermal growth factor susceptibility ISO DNA:polymorphism:promoter:+61A>G(human)
DNA:polymorphism:promoter:GG genotypes were associated with increased risk.
RGD PMID:22106858, PMID:17473192 RGD:13702473, RGD:13702474 NCBI chr 3:129,677,574...129,755,322
Ensembl chr 3:129,677,565...129,755,316
JBrowse link
G Egfr epidermal growth factor receptor treatment ISO protein:alternative form:tumor (human)
ClinVar Annotator: match by term: Brainstem glioma
ClinVar PMID:17177598 PMID:26619011, PMID:7606735, PMID:10616092 RGD:5131512, RGD:38599219 NCBI chr11:16,752,203...16,913,907
Ensembl chr11:16,752,203...16,918,158
JBrowse link
G Ehbp1l1 EH domain binding protein 1-like 1 ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr19:5,707,369...5,726,576
Ensembl chr19:5,707,376...5,726,317
JBrowse link
G Ehd1 EH-domain containing 1 ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr19:6,276,896...6,300,096
Ensembl chr19:6,276,725...6,300,096
JBrowse link
G Entpd2 ectonucleoside triphosphate diphosphohydrolase 2 ISO RGD PMID:19558578 RGD:9685528 NCBI chr 2:25,395,874...25,401,323
Ensembl chr 2:25,395,874...25,401,321
JBrowse link
G Epha5 Eph receptor A5 ISO ClinVar Annotator: match by term: Astrocytoma ClinVar PMID:25741868 NCBI chr 5:84,054,761...84,417,818
Ensembl chr 5:84,054,761...84,417,382
JBrowse link
G Epo erythropoietin ISO RGD PMID:21749867 RGD:10400910 NCBI chr 5:137,483,020...137,485,816
Ensembl chr 5:137,483,020...137,533,242
JBrowse link
G Epor erythropoietin receptor ISO RGD PMID:21749867 RGD:10400910 NCBI chr 9:21,958,897...21,963,576
Ensembl chr 9:21,958,897...21,963,506
JBrowse link
G Erbb2 erb-b2 receptor tyrosine kinase 2 susceptibility ISO ClinVar Annotator: match by OMIM:137800
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:15457249 NCBI chr11:98,412,484...98,437,716
Ensembl chr11:98,412,470...98,437,716
JBrowse link
G Ercc1 excision repair cross-complementing rodent repair deficiency, complementation group 1 susceptibility ISO DNA:snp:3'utr:c.8092C>A (human) (rs3212986) RGD PMID:25867436 RGD:13207318 NCBI chr 7:19,344,067...19,356,524
Ensembl chr 7:19,344,778...19,356,524
JBrowse link
G Ercc2 excision repair cross-complementing rodent repair deficiency, complementation group 2 susceptibility ISO RGD PMID:11319176 RGD:10401082 NCBI chr 7:19,382,017...19,395,694
Ensembl chr 7:19,382,010...19,395,694
JBrowse link
G Esrra estrogen related receptor, alpha ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr19:6,910,977...6,922,048
Ensembl chr19:6,910,977...6,921,813
Ensembl chr19:6,910,977...6,921,813
JBrowse link
G F2 coagulation factor II treatment ISO RGD PMID:15975137 RGD:1578509 NCBI chr 2:91,612,397...91,636,457
Ensembl chr 2:91,625,320...91,636,414
JBrowse link
G Fam107a family with sequence similarity 107, member A ISO CTD Direct Evidence: marker/mechanism CTD PMID:16865689 NCBI chr14:8,296,270...8,317,607
Ensembl chr14:8,296,274...8,318,023
JBrowse link
G Fam89b family with sequence similarity 89, member B ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr19:5,728,087...5,729,666
Ensembl chr19:5,728,087...5,729,653
JBrowse link
G Fas Fas (TNF receptor superfamily member 6) severity IMP mouse gene in a rat model RGD PMID:11440439 RGD:8663460 NCBI chr19:34,290,647...34,327,775
Ensembl chr19:34,290,666...34,327,772
JBrowse link
G Fau Finkel-Biskis-Reilly murine sarcoma virus (FBR-MuSV) ubiquitously expressed (fox derived) ISO ClinVar Annotator: match by term: Brainstem glioma ClinVar NCBI chr19:6,057,947...6,059,524
Ensembl chr19:6,057,844...6,059,524
JBrowse link
G Fbxw7 F-box and WD-40 domain protein 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18931460 NCBI chr 3:84,814,990...84,979,198
Ensembl chr 3:84,815,268...84,979,198
JBrowse link
G Fermt3 fermitin family member 3 ISO ClinVar Annotator: match by term: Brainstem glioma ClinVar NCBI chr19:6,998,958...7,019,469
Ensembl chr19:6,998,958...7,019,469
JBrowse link
G Fgf2 fibroblast growth factor 2 ISO CTD Direct Evidence: therapeutic CTD PMID:10673511 NCBI chr 3:37,348,477...37,410,106
Ensembl chr 3:37,348,346...37,410,108
JBrowse link
G Fgfr1 fibroblast growth factor receptor 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Astrocytoma
ClinVar Annotator: match by term: Brainstem glioma
CTD
ClinVar
PMID:10766980 PMID:23583981 PMID:23819449 PMID:25705862 PMID:26619011 PMID:26822237 PMID:26942290 PMID:27626068 NCBI chr 8:25,518,759...25,575,718
Ensembl chr 8:25,513,654...25,575,718
JBrowse link
G Fkbp2 FK506 binding protein 2 ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr19:6,977,737...6,980,464
Ensembl chr19:6,977,741...6,980,501
JBrowse link
G Flrt1 fibronectin leucine rich transmembrane protein 1 ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr19:7,087,464...7,166,183
Ensembl chr19:7,092,001...7,105,729
JBrowse link
G Flt3l FMS-like tyrosine kinase 3 ligand treatment ISO RGD PMID:15564139 RGD:11049500 NCBI chr 7:45,131,183...45,136,490
Ensembl chr 7:45,129,788...45,136,432
JBrowse link
G Frmd8 FERM domain containing 8 ISO ClinVar Annotator: match by term: Brainstem glioma ClinVar NCBI chr19:5,850,974...5,875,269
Ensembl chr19:5,849,702...5,875,274
JBrowse link
G Fth1 ferritin heavy polypeptide 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21385903 NCBI chr19:9,980,600...9,985,111
Ensembl chr19:9,980,598...9,985,098
JBrowse link
G Gdnf glial cell line derived neurotrophic factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:19138852 NCBI chr15:7,810,048...7,837,580
Ensembl chr15:7,810,846...7,837,575
JBrowse link
G Gja1 gap junction protein, alpha 1 ISO RGD PMID:22808518 RGD:7207264 NCBI chr10:56,377,300...56,390,419
Ensembl chr10:56,377,330...56,402,513
JBrowse link
G Glb1 galactosidase, beta 1 ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr 9:114,401,078...114,474,379
Ensembl chr 9:114,401,076...114,474,898
JBrowse link
G Gon4l gon-4-like (C.elegans) ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr 3:88,835,207...88,910,099
Ensembl chr 3:88,835,231...88,910,103
JBrowse link
G Gpha2 glycoprotein hormone alpha 2 ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr19:6,226,401...6,227,768
Ensembl chr19:6,226,380...6,227,768
JBrowse link
G Gpr137 G protein-coupled receptor 137 ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr19:6,938,057...6,942,450
Ensembl chr19:6,938,057...6,942,480
JBrowse link
G Gstm1 glutathione S-transferase, mu 1 severity ISO RGD PMID:10965818 RGD:5490163 NCBI chr 3:108,012,250...108,017,973
Ensembl chr 3:108,012,255...108,017,973
JBrowse link
G Gstm3 glutathione S-transferase, mu 3 ISO DNA: deletion: intron 6 RGD PMID:16598069 RGD:5688743 NCBI chr 3:107,963,696...107,969,174
Ensembl chr 3:107,963,696...107,969,283
JBrowse link
G Gstm5 glutathione S-transferase, mu 5 ISO DNA: deletion: intron 6 RGD PMID:16598069 RGD:5688743 NCBI chr 3:107,895,854...107,898,685
Ensembl chr 3:107,895,821...107,898,686
JBrowse link
G Gstp1 glutathione S-transferase, pi 1 susceptibility ISO DNA:polymorphism:exon:p.I105V (rs1695) (human)
CTD Direct Evidence: marker/mechanism
CTD PMID:16899598, PMID:15006924 RGD:5490124 NCBI chr19:4,035,411...4,037,912
Ensembl chr19:4,035,407...4,037,985
JBrowse link
G H2-M2 histocompatibility 2, M region locus 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14511464 NCBI chr17:37,480,851...37,483,554
Ensembl chr17:37,480,851...37,483,552
JBrowse link
G H2-Q1 histocompatibility 2, Q region locus 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14511464 NCBI chr17:35,320,525...35,328,142
Ensembl chr17:35,320,405...35,325,099
JBrowse link
G H3f3a 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 1:180,802,560...180,813,605
Ensembl chr 1:180,800,832...180,813,943
JBrowse link
G Hdac3 histone deacetylase 3 disease_progression ISO mRNA,protein:increased expression:brain:
ClinVar Annotator: match by term: Ependymoma
ClinVar PMID:23685192 RGD:9590201 NCBI chr18:37,936,971...37,955,015
Ensembl chr18:37,935,844...37,955,016
JBrowse link
G Hells helicase, lymphoid specific severity ISO RGD PMID:28042322 RGD:13702468 NCBI chr19:38,930,262...38,970,470
Ensembl chr19:38,930,915...38,971,051
JBrowse link
G Hgf hepatocyte growth factor disease_progression ISO protein:increased expression:brain: RGD PMID:12115353 RGD:8548633 NCBI chr 5:16,553,495...16,619,439
Ensembl chr 5:16,553,495...16,620,152
JBrowse link
G Hmgb1 high mobility group box 1 treatment ISO RGD PMID:10830965 RGD:10402059 NCBI chr 5:149,046,702...149,053,057
Ensembl chr 5:149,046,702...149,184,489
JBrowse link
G Hmgn5 high-mobility group nucleosome binding domain 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22109888 NCBI chr  X:109,004,537...109,013,380
Ensembl chr  X:109,004,534...109,013,404
JBrowse link
G Hras Harvey rat sarcoma virus oncogene IEA
ISO
OMIM:137800 | OMIM:607248 | OMIM:613028 | OMIM:613029 | OMIM:613030 | OMIM:613031 | OMIM:613032 | OMIM:613033 | OMIM:616568
CTD Direct Evidence: marker/mechanism
MouseDO
CTD
PMID:30619488 NCBI chr 7:141,189,934...141,194,019
Ensembl chr 7:141,189,105...141,194,005
JBrowse link
G Hspa5 heat shock protein 5 ISO protein:increased expression RGD PMID:21112319 RGD:5685704 NCBI chr 2:34,772,090...34,776,529
Ensembl chr 2:34,771,970...34,777,547
JBrowse link
G Idh1 isocitrate dehydrogenase 1 (NADP+), soluble susceptibility ISO ClinVar Annotator: match by term: Brainstem glioma
CTD Direct Evidence: marker/mechanism
ClinVar
OMIM
CTD
PMID:18772396 PMID:19657110 PMID:19798509 PMID:19818334 PMID:19901110 PMID:20946881 PMID:21352804 PMID:21446021 PMID:22160010 PMID:22397365 PMID:22417203 PMID:22898539 PMID:23558169 PMID:24606448 PMID:25043048 PMID:25157968 PMID:25391653 PMID:25741868 PMID:25848751 PMID:26618343 PMID:26619011 PMID:27993330 PMID:28122345 NCBI chr 1:65,158,616...65,186,479
Ensembl chr 1:65,158,616...65,186,500
JBrowse link
G Idh2 isocitrate dehydrogenase 2 (NADP+), mitochondrial ISO ClinVar Annotator: match by term: Brainstem glioma ClinVar PMID:20946881 PMID:21250968 PMID:21596855 PMID:21997850 PMID:22160010 PMID:22397365 PMID:22417203 PMID:22616558 PMID:22898539 PMID:23949315 PMID:24606448 PMID:25157968 PMID:26619011 NCBI chr 7:80,094,845...80,118,608
Ensembl chr 7:80,094,846...80,115,392
JBrowse link
G Ifng interferon gamma ISO RGD PMID:10078962 RGD:727266 NCBI chr10:118,441,046...118,445,894
Ensembl chr10:118,441,046...118,445,892
JBrowse link
G Igf1 insulin-like growth factor 1 severity ISO protein:increased expression:serum: RGD PMID:21788435 RGD:8548833 NCBI chr10:87,858,265...87,937,047
Ensembl chr10:87,858,265...87,937,042
JBrowse link
G Igf1r insulin-like growth factor I receptor ISO DNA: SNP: : rs2272037 or rs2016347 RGD PMID:18562769 RGD:5686434 NCBI chr 7:67,952,257...68,233,668
Ensembl chr 7:67,952,827...68,233,668
JBrowse link
G Igfbp3 insulin-like growth factor binding protein 3 severity ISO protein:increased expression:serum: RGD PMID:21788435 RGD:8548833 NCBI chr11:7,206,086...7,215,498
Ensembl chr11:7,206,086...7,213,923
JBrowse link
G Il10 interleukin 10 susceptibility ISO DNA:SNP: :rs1800896 (human) RGD PMID:20406895 RGD:4140470 NCBI chr 1:131,019,845...131,024,970
Ensembl chr 1:131,019,845...131,024,974
JBrowse link
G Il12a interleukin 12a ISO CTD Direct Evidence: therapeutic CTD PMID:18176109 NCBI chr 3:68,690,644...68,698,550
Ensembl chr 3:68,690,644...68,698,547
JBrowse link
G Il12b interleukin 12b ISO CTD Direct Evidence: therapeutic CTD PMID:18176109 NCBI chr11:44,400,063...44,414,677
Ensembl chr11:44,400,063...44,414,033
JBrowse link
G Il18 interleukin 18 treatment IMP RGD PMID:18725309 RGD:8657054 NCBI chr 9:50,554,700...50,581,841
Ensembl chr 9:50,554,827...50,581,840
JBrowse link
G Il2 interleukin 2 treatment ISO RGD PMID:12864971 RGD:8663439 NCBI chr 3:37,120,713...37,125,954
Ensembl chr 3:37,120,523...37,125,959
JBrowse link
G Il4 interleukin 4 treatment IMP RGD PMID:9973213 RGD:8142389 NCBI chr11:53,612,460...53,618,665
Ensembl chr11:53,602,982...53,618,669
JBrowse link
G