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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


show annotations for term's descendants           Sort by:
spinal disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Flnb filamin B ISO spondylocarpotarsal syndrome,OMIM:272460;DNA:frameshift:6408delC,DNA:point mutation:exons:R818X,R1607X RGD PMID:14991055 RGD:1601168 NCBI chr15:16,961,999...17,095,059
Ensembl chr15:16,962,003...17,095,006 		JBrowse link
G Penk proenkephalin IEP mRNA:increased expression:hypothalamus: RGD PMID:11501038 RGD:10003114 NCBI chr 5:17,183,799...17,189,160
Ensembl chr 5:17,183,806...17,189,129 		JBrowse link
G Tsc1 TSC complex subunit 1 ISS MouseDO NCBI chr 3:11,969,547...12,018,591
Ensembl chr 3:11,979,729...12,015,674 		JBrowse link
achondrogenesis type IA term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Asb2 ankyrin repeat and SOCS box-containing 2 ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr 6:122,474,754...122,511,014
Ensembl chr 6:122,474,756...122,510,854 		JBrowse link
G Atxn3 ataxin 3 ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr 6:121,072,228...121,107,902
Ensembl chr 6:121,074,448...121,107,902 		JBrowse link
G Btbd7 BTB domain containing 7 ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr 6:121,920,365...122,010,114
Ensembl chr 6:121,923,023...121,972,405 		JBrowse link
G Calm1 calmodulin 1 ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr 6:119,487,691...119,495,759
Ensembl chr 6:119,487,621...119,498,227 		JBrowse link
G Catsperb cation channel sperm associated auxiliary subunit beta ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr 6:120,418,606...120,713,160
Ensembl chr 6:120,418,609...120,707,182 		JBrowse link
G Ccdc88c coiled-coil domain containing 88C ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr 6:120,169,752...120,289,459
Ensembl chr 6:120,169,738...120,289,555 		JBrowse link
G Chga chromogranin A ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr 6:121,696,051...121,707,399
Ensembl chr 6:121,696,051...121,707,398 		JBrowse link
G Cox8c cytochrome c oxidase subunit 8C ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr 6:122,028,566...122,029,889
Ensembl chr 6:122,028,566...122,029,889 		JBrowse link
G Cpsf2 cleavage and polyadenylation specific factor 2 ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr 6:121,123,941...121,152,756
Ensembl chr 6:121,120,569...121,151,921 		JBrowse link
G Ddx24 DEAD-box helicase 24 ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr 6:122,564,767...122,582,032
Ensembl chr 6:122,564,767...122,581,927 		JBrowse link
G Dglucy D-glutamate cyclase ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr 6:120,055,480...120,130,910
Ensembl chr 6:120,055,460...120,130,910 		JBrowse link
G Fam181a family with sequence similarity 181, member A ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr 6:122,465,373...122,471,397
Ensembl chr 6:122,465,391...122,471,397 		JBrowse link
G Fbln5 fibulin 5 ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr 6:120,899,219...120,977,829
Ensembl chr 6:120,899,224...120,977,755 		JBrowse link
G Golga5 golgin A5 ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr 6:121,612,389...121,640,552
Ensembl chr 6:121,612,529...121,640,413 		JBrowse link
G Gon7 GON7 subunit of KEOPS complex ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr 6:121,882,565...121,898,452
Ensembl chr 6:121,885,694...121,898,643
Ensembl chr 6:121,885,694...121,898,643 		JBrowse link
G Gpr68 G protein-coupled receptor 68 ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr 6:120,135,620...120,166,089
Ensembl chr 6:120,135,436...120,166,089 		JBrowse link
G Ifi27 interferon, alpha-inducible protein 27 ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr 6:122,590,461...122,596,996
Ensembl chr 6:122,590,472...122,779,294 		JBrowse link
G Ifi27l2a interferon, alpha-inducible protein 27 like 2A ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr 6:122,598,872...122,600,358
Ensembl chr 6:122,598,872...122,600,360 		JBrowse link
G Itpk1 inositol-tetrakisphosphate 1-kinase ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr 6:121,710,750...121,844,501
Ensembl chr 6:121,710,755...121,844,107 		JBrowse link
G Kcnk13 potassium two pore domain channel subfamily K member 13 ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr 6:119,240,825...119,345,292
Ensembl chr 6:119,242,188...119,345,240 		JBrowse link
G Lgmn legumain ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr 6:121,544,048...121,582,495
Ensembl chr 6:121,544,053...121,582,480 		JBrowse link
G Lyset lysosomal enzyme trafficking factor ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr 6:121,884,577...121,886,319
Ensembl chr 6:121,884,643...121,886,275 		JBrowse link
G Moap1 modulator of apoptosis 1 ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr 6:121,882,565...121,884,500
Ensembl chr 6:121,882,366...121,898,643 		JBrowse link
G Ndufb1 NADH:ubiquinone oxidoreductase subunit B1 ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr 6:121,115,649...121,124,055 JBrowse link
G Nrde2 NRDE-2, necessary for RNA interference, domain containing ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr 6:119,405,103...119,446,861
Ensembl chr 6:119,404,334...119,448,915 		JBrowse link
G Otub2 OTU deubiquitinase, ubiquitin aldehyde binding 2 ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr 6:122,545,067...122,563,657
Ensembl chr 6:122,545,061...122,563,644 		JBrowse link
G Ppp4r3a protein phosphatase 4, regulatory subunit 3A ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr 6:120,302,508...120,365,907
Ensembl chr 6:120,302,511...120,365,891 		JBrowse link
G Ppp4r4 protein phosphatase 4, regulatory subunit 4 ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr 6:122,663,172...122,753,988
Ensembl chr 6:122,663,344...122,753,384 		JBrowse link
G Prima1 proline rich membrane anchor 1 ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr 6:122,338,365...122,390,955
Ensembl chr 6:122,338,370...122,389,921 		JBrowse link
G Psmc1 proteasome 26S subunit, ATPase 1 ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr 6:119,392,833...119,405,233
Ensembl chr 6:119,392,855...119,410,123 		JBrowse link
G Rin3 Ras and Rab interactor 3 ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr 6:121,431,776...121,540,956
Ensembl chr 6:121,431,339...121,540,957 		JBrowse link
G Rps6ka5 ribosomal protein S6 kinase A5 ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr 6:119,828,823...120,006,190
Ensembl chr 6:119,828,846...120,006,224 		JBrowse link
G Serpina1 serpin family A member 1 ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr 6:122,866,314...122,888,339
Ensembl chr 6:122,866,312...122,888,339 		JBrowse link
G Serpina10 serpin family A member 10 ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr 6:122,756,106...122,764,544
Ensembl chr 6:122,756,108...122,764,544 		JBrowse link
G Serpina1f serpin family A member 1F ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr 6:122,820,752...122,827,112
Ensembl chr 6:122,820,907...122,827,112 		JBrowse link
G Serpina6 serpin family A member 6 ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr 6:122,780,040...122,790,274
Ensembl chr 6:122,780,043...122,790,349 		JBrowse link
G Slc24a4 solute carrier family 24 member 4 ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr 6:121,279,590...121,419,811
Ensembl chr 6:121,280,031...121,414,949 		JBrowse link
G Tc2n tandem C2 domains, nuclear ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr 6:120,761,112...120,856,835
Ensembl chr 6:120,761,119...120,849,326 		JBrowse link
G Tdp1 tyrosyl-DNA phosphodiesterase 1 ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr 6:119,163,192...119,231,029
Ensembl chr 6:119,163,166...119,231,021 		JBrowse link
G Trip11 thyroid hormone receptor interactor 11 ISO
ISS		 ClinVar Annotator: match by term: Achondrogenesis, type IA
OMIM:200600
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:200899 PMID:2008997 PMID:9536098 PMID:16199547 PMID:17576681 More... NCBI chr 6:120,995,242...121,067,693
Ensembl chr 6:120,998,733...121,067,781 		JBrowse link
G Ttc7b tetratricopeptide repeat domain 7B ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr 6:119,587,389...119,799,167
Ensembl chr 6:119,587,390...119,799,330 		JBrowse link
G Ubr7 ubiquitin protein ligase E3 component n-recognin 7 ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr 6:121,898,613...121,918,480
Ensembl chr 6:121,898,623...121,918,477 		JBrowse link
G Unc79 unc-79 homolog, NALCN channel complex subunit ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr 6:122,082,369...122,327,641
Ensembl chr 6:122,080,308...122,327,591 		JBrowse link
acromesomelic dysplasia, Maroteaux type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aptx aprataxin ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 5:55,798,896...55,822,963
Ensembl chr 5:55,800,248...55,822,855 		JBrowse link
G Aqp3 aquaporin 3 (Gill blood group) ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 5:56,239,200...56,244,718
Ensembl chr 5:56,239,201...56,244,720 		JBrowse link
G Aqp7 aquaporin 7 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 5:56,171,649...56,186,642
Ensembl chr 5:56,172,519...56,186,642 		JBrowse link
G Arhgef39 Rho guanine nucleotide exchange factor 39 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 5:57,752,509...57,756,079
Ensembl chr 5:57,752,509...57,756,109 		JBrowse link
G Arid3c AT-rich interaction domain 3C ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 5:56,889,649...56,896,959
Ensembl chr 5:56,890,042...56,895,888 		JBrowse link
G Atosb atos homolog B ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 5:57,260,839...57,274,524
Ensembl chr 5:57,260,841...57,268,892 		JBrowse link
G B4galt1 beta-1,4-galactosyltransferase 1 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 5:55,935,614...55,982,461
Ensembl chr 5:55,935,615...55,982,461 		JBrowse link
G Bag1 BAG cochaperone 1 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 5:56,068,494...56,081,075
Ensembl chr 5:56,068,494...56,081,075 		JBrowse link
G Car9 carbonic anhydrase 9 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 5:57,763,234...57,769,838
Ensembl chr 5:57,763,206...57,769,838 		JBrowse link
G Ccdc107 coiled-coil domain containing 107 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 5:57,749,502...57,752,920
Ensembl chr 5:57,748,999...57,752,918 		JBrowse link
G Ccin calicin ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 5:58,206,676...58,208,563
Ensembl chr 5:58,206,633...58,208,951 		JBrowse link
G Ccl19 C-C motif chemokine ligand 19 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 5:56,963,364...56,965,308
Ensembl chr 5:56,963,364...56,965,308 		JBrowse link
G Ccl21 C-C motif chemokine ligand 21 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 5:56,980,557...56,981,661
Ensembl chr 5:56,980,558...56,981,686 		JBrowse link
G Ccl27 C-C motif chemokine ligand 27 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 5:56,941,402...56,948,511
Ensembl chr 5:56,941,402...56,948,506 		JBrowse link
G Cd72 Cd72 molecule ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 5:57,697,361...57,704,980
Ensembl chr 5:57,697,367...57,704,725 		JBrowse link
G Chmp5 charged multivesicular body protein 5 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 5:56,081,385...56,098,529
Ensembl chr 5:56,081,343...56,098,529 		JBrowse link
G Cimip2b ciliary microtubule inner protein 2B ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 5:57,675,537...57,680,133
Ensembl chr 5:57,675,462...57,678,611 		JBrowse link
G Clta clathrin, light chain A ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 5:58,244,253...58,263,480
Ensembl chr 5:58,245,442...58,263,472 		JBrowse link
G Cntfr ciliary neurotrophic factor receptor ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 5:56,823,448...56,861,049
Ensembl chr 5:56,823,965...56,841,392 		JBrowse link
G Creb3 cAMP responsive element binding protein 3 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 5:57,817,865...57,823,233
Ensembl chr 5:57,817,832...57,824,390 		JBrowse link
G Dcaf12 DDB1 and CUL4 associated factor 12 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 5:56,460,418...56,482,171
Ensembl chr 5:56,461,006...56,482,456 		JBrowse link
G Dctn3 dynactin subunit 3 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 5:56,881,085...56,889,041
Ensembl chr 5:56,881,085...56,889,102 		JBrowse link
G Dnai1 dynein, axonemal, intermediate chain 1 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 5:56,730,179...56,800,926
Ensembl chr 5:56,730,179...56,800,925 		JBrowse link
G Dnaja1 DnaJ heat shock protein family (Hsp40) member A1 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 5:55,842,414...55,853,326
Ensembl chr 5:55,842,426...55,853,967 		JBrowse link
G Dnajb5 DnaJ heat shock protein family (Hsp40) member B5 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 5:57,176,840...57,186,067
Ensembl chr 5:57,176,845...57,185,490 		JBrowse link
G Enho energy homeostasis associated ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 5:56,800,980...56,802,777
Ensembl chr 5:56,800,980...56,802,777 		JBrowse link
G Exosc3 exosome component 3 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 5:59,573,849...59,579,065
Ensembl chr 5:59,573,886...59,579,060 		JBrowse link
G Fam219a family with sequence similarity 219, member A ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 5:56,679,272...56,729,959
Ensembl chr 5:56,680,613...56,729,924 		JBrowse link
G Fam221b family with sequence similarity 221, member B ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 5:57,910,346...57,919,562
Ensembl chr 5:57,910,352...57,919,367 		JBrowse link
G Fancg FA complementation group G ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 5:57,230,287...57,240,067
Ensembl chr 5:57,231,685...57,240,029 		JBrowse link
G Fbxo10 F-box protein 10 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 5:59,297,016...59,343,429
Ensembl chr 5:59,297,045...59,343,348 		JBrowse link
G Frmpd1 FERM and PDZ domain containing 1 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 5:59,443,076...59,545,125
Ensembl chr 5:59,443,076...59,545,080 		JBrowse link
G Galt galactose-1-phosphate uridylyltransferase ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 5:56,927,039...56,930,284
Ensembl chr 5:56,926,724...56,930,265 		JBrowse link
G Gba2 glucosylceramidase beta 2 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 5:57,822,389...57,834,522
Ensembl chr 5:57,822,389...57,834,072 		JBrowse link
G Glipr2 GLI pathogenesis-related 2 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 5:58,170,417...58,202,258
Ensembl chr 5:58,170,425...58,202,272 		JBrowse link
G Gne glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 5:58,267,189...58,307,396
Ensembl chr 5:58,267,210...58,307,499 		JBrowse link
G Grhpr glyoxylate and hydroxypyruvate reductase ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 5:59,234,179...59,243,614
Ensembl chr 5:59,234,192...59,243,603 		JBrowse link
G Hint2 histidine triad nucleotide binding protein 2 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 5:57,904,613...57,906,868
Ensembl chr 5:57,904,614...57,907,097 		JBrowse link
G Hrct1 histidine rich carboxyl terminus 1 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 5:57,982,344...57,983,186
Ensembl chr 5:57,982,470...57,982,790 		JBrowse link
G Il11ra1 interleukin 11 receptor subunit alpha 1 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 5:56,931,824...56,941,408
Ensembl chr 5:56,935,516...56,941,408 		JBrowse link
G Kif24 kinesin family member 24 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 5:56,561,019...56,628,040
Ensembl chr 5:56,561,154...56,628,025 		JBrowse link
G Melk maternal embryonic leucine zipper kinase ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 5:58,540,393...58,600,562
Ensembl chr 5:58,540,449...58,600,937 		JBrowse link
G Msmp microseminoprotein, prostate associated ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 5:57,838,935...57,839,985
Ensembl chr 5:57,838,935...57,839,985 		JBrowse link
G Myorg myogenesis regulating glycosidase ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 5:56,654,257...56,664,467
Ensembl chr 5:56,648,643...56,664,440 		JBrowse link
G Ndufb6 NADH:ubiquinone oxidoreductase subunit B6 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 5:55,400,543...55,410,110
Ensembl chr 5:55,400,543...55,410,181 		JBrowse link
G Nfx1 nuclear transcription factor, X-box binding 1 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 5:56,104,945...56,162,912
Ensembl chr 5:56,105,234...56,162,912 		JBrowse link
G Nol6 nucleolar protein 6 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 5:56,259,919...56,270,540
Ensembl chr 5:56,260,830...56,270,336 		JBrowse link
G Npr2 natriuretic peptide receptor 2 ISO
ISS		 ClinVar Annotator: match by term: ACROMESOMELIC DYSPLASIA 1 | ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type | ClinVar Annotator: match by term: Acromesomelic dysplasia, Maroteaux type | ClinVar Annotator: match by term: ST. HELENA DYSPLASIA
OMIM:602875
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:9536098 PMID:15146390 PMID:15572448 PMID:16199547 PMID:16384845 More... NCBI chr 5:57,883,171...57,901,590
Ensembl chr 5:57,883,171...57,901,580 		JBrowse link
G Nudt2 nudix hydrolase 2 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 5:56,628,265...56,643,104
Ensembl chr 5:56,628,265...56,643,104 		JBrowse link
G Or13c7 olfactory receptor family 13 subfamily C member 7 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 5:58,081,150...58,082,109
Ensembl chr 5:58,077,726...58,083,852 		JBrowse link
G Or13j1 olfactory receptor family 13 subfamily J member 1 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 5:57,961,391...57,962,329
Ensembl chr 5:57,960,219...57,965,853 		JBrowse link
G Pax5 paired box 5 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 5:58,763,334...58,945,719
Ensembl chr 5:58,765,036...58,944,326 		JBrowse link
G Phf24 PHD finger protein 24 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 5:57,143,428...57,171,054
Ensembl chr 5:57,142,632...57,168,497 		JBrowse link
G Pigo phosphatidylinositol glycan anchor biosynthesis, class O ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 5:57,244,721...57,256,252
Ensembl chr 5:57,245,166...57,254,146 		JBrowse link
G Polr1e RNA polymerase I subunit E ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 5:59,279,456...59,295,346
Ensembl chr 5:59,279,460...59,295,369 		JBrowse link
G Prss3 serine protease 3 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 4:70,203,088...70,206,562
Ensembl chr 4:70,203,088...70,206,562 		JBrowse link
G Reck reversion-inducing-cysteine-rich protein with kazal motifs ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 5:58,102,961...58,169,516
Ensembl chr 5:58,102,981...58,169,502 		JBrowse link
G Rgp1 RGP1 homolog, RAB6A GEF complex partner 1 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 5:57,834,467...57,843,087
Ensembl chr 5:57,834,629...57,843,086 		JBrowse link
G Rig1 RNA sensor RIG-1 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 5:55,321,351...55,369,947
Ensembl chr 5:55,321,235...55,370,819 		JBrowse link
G Rnf38 ring finger protein 38 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 5:58,358,771...58,467,424
Ensembl chr 5:58,361,976...58,467,446 		JBrowse link
G Rpp25l ribonuclease P/MRP subunit p25 like ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 5:56,878,420...56,879,956
Ensembl chr 5:56,876,316...56,880,013 		JBrowse link
G Rusc2 RUN and SH3 domain containing 2 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 5:57,628,397...57,675,524
Ensembl chr 5:57,629,904...57,675,524 		JBrowse link
G Sigmar1 sigma non-opioid intracellular receptor 1 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 5:56,904,155...56,907,012
Ensembl chr 5:56,904,159...56,907,017 		JBrowse link
G Sit1 signaling threshold regulating transmembrane adaptor 1 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 5:57,740,212...57,741,838
Ensembl chr 5:57,740,218...57,741,838 		JBrowse link
G Smu1 SMU1, DNA replication regulator and spliceosomal factor ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 5:55,856,691...55,875,262
Ensembl chr 5:55,856,246...55,875,300 		JBrowse link
G Spag8 sperm associated antigen 8 ISO ClinVar Annotator: match by term: ACROMESOMELIC DYSPLASIA 1 | ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:15146390 PMID:15572448 PMID:16199547 PMID:16384845 PMID:18945719 More... NCBI chr 5:57,901,681...57,903,894
Ensembl chr 5:57,901,682...57,903,894 		JBrowse link
G Spata31f1 SPATA31 subfamily F member 1 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 5:57,065,743...57,071,880
Ensembl chr 5:57,065,747...57,071,738 		JBrowse link
G Spata31g1 SPATA31 subfamily G member 1 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 5:57,199,980...57,204,069
Ensembl chr 5:57,200,000...57,204,070 		JBrowse link
G Spink4 serine peptidase inhibitor, Kazal type 4 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 5:56,043,936...56,064,841
Ensembl chr 5:55,981,624...56,064,795 		JBrowse link
G Spmip6 sperm microtubule inner protein 6 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 5:56,666,160...56,678,865
Ensembl chr 5:56,666,058...56,678,923 		JBrowse link
G Stoml2 stomatin like 2 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 5:57,256,227...57,259,824
Ensembl chr 5:57,256,220...57,259,920 		JBrowse link
G Tesk1 testis associated actin remodelling kinase 1 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 5:57,691,922...57,697,698
Ensembl chr 5:57,691,969...57,697,698 		JBrowse link
G Tln1 talin 1 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 5:57,787,670...57,817,900
Ensembl chr 5:57,787,943...57,817,900 		JBrowse link
G Tmem215 transmembrane protein 215 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 5:55,612,568...55,615,828
Ensembl chr 5:55,612,568...55,615,828 		JBrowse link
G Tmem8b transmembrane protein 8B ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 5:57,919,473...57,948,419
Ensembl chr 5:57,919,804...57,946,772 		JBrowse link
G Tomm5 translocase of outer mitochondrial membrane 5 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 5:59,362,360...59,365,191
Ensembl chr 5:59,362,240...59,365,269 		JBrowse link
G Topors TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 5:55,388,033...55,399,937
Ensembl chr 5:55,387,632...55,399,937 		JBrowse link
G Tpm2 tropomyosin 2 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 5:57,770,919...57,780,278
Ensembl chr 5:57,770,864...57,779,992 		JBrowse link
G Trmt10b tRNA methyltransferase 10B ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 5:59,548,845...59,572,529
Ensembl chr 5:59,548,869...59,572,526 		JBrowse link
G Ubap1 ubiquitin-associated protein 1 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 5:56,520,722...56,561,153
Ensembl chr 5:56,520,743...56,561,152 		JBrowse link
G Ubap2 ubiquitin-associated protein 2 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 5:56,348,243...56,437,403
Ensembl chr 5:56,348,246...56,437,049 		JBrowse link
G Ube2r2 ubiquitin-conjugating enzyme E2R 2 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 5:56,286,604...56,345,160
Ensembl chr 5:56,286,725...56,345,513 		JBrowse link
G Unc13b unc-13 homolog B ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 5:57,288,999...57,504,110
Ensembl chr 5:57,289,227...57,502,926 		JBrowse link
G Vcp valosin-containing protein ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 5:57,210,167...57,229,571
Ensembl chr 5:57,210,168...57,229,571 		JBrowse link
G Zbtb5 zinc finger and BTB domain containing 5 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 5:59,244,132...59,265,461
Ensembl chr 5:59,243,307...59,265,426 		JBrowse link
G Zcchc7 zinc finger CCHC-type containing 7 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 5:58,992,558...59,173,308
Ensembl chr 5:58,993,290...59,173,300 		JBrowse link
Adult Cerebral Astrocytoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mmp1 matrix metallopeptidase 1 susceptibility ISO DNA:insertion:promoter:g.-1607insG (human) RGD PMID:17502998 RGD:7207034 NCBI chr 8:4,658,588...4,679,099
Ensembl chr 8:4,658,588...4,679,097 		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 3:149,596,509...149,757,765
Ensembl chr 3:149,596,509...149,757,755 		JBrowse link
anaplastic astrocytoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atrx ATRX, chromatin remodeler ISO ClinVar Annotator: match by term: Astrocytoma, anaplastic ClinVar PMID:7697714 PMID:8968741 PMID:18414213 PMID:22995991 PMID:24082139 More... NCBI chr  X:70,850,981...70,997,330
Ensembl chr  X:70,850,981...70,997,330 		JBrowse link
G Kras KRAS proto-oncogene, GTPase ISO mRNA:decreased expression:brain RGD PMID:19179066 RGD:13702872 NCBI chr 4:178,185,418...178,218,484 JBrowse link
G Tp53 tumor protein p53 ISO ClinVar Annotator: match by term: Astrocytoma, anaplastic ClinVar PMID:1349175 PMID:1565143 PMID:1565144 PMID:1591732 PMID:1631137 More... NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524 		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:25085752 PMID:25741868 PMID:26315354 PMID:26467025 More... NCBI chr 1:176,665,076...176,689,053
Ensembl chr 1:176,665,076...176,688,990 		JBrowse link
G Rnf213 ring finger protein 213 ISO ClinVar Annotator: match by term: Anaplastic ependymoma ClinVar PMID:26822237 NCBI chr10:104,656,329...104,755,669
Ensembl chr10:104,656,883...104,757,918 		JBrowse link
G Runx1 RUNX family transcription factor 1 ISO ClinVar Annotator: match by term: Anaplastic ependymoma ClinVar PMID:23753029 PMID:25741868 PMID:26580448 PMID:28492532 PMID:28801348 More... NCBI chr11:31,839,880...32,074,427
Ensembl chr11:31,843,764...32,074,542 		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: Anaplastic oligodendroglioma ClinVar NCBI chr 1:80,853,920...80,880,537
Ensembl chr 1:80,853,920...80,880,532 		JBrowse link
anauxetic dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arhgef39 Rho guanine nucleotide exchange factor 39 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 5:57,752,509...57,756,079
Ensembl chr 5:57,752,509...57,756,109 		JBrowse link
G Arid3c AT-rich interaction domain 3C ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 5:56,889,649...56,896,959
Ensembl chr 5:56,890,042...56,895,888 		JBrowse link
G Atosb atos homolog B ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 5:57,260,839...57,274,524
Ensembl chr 5:57,260,841...57,268,892 		JBrowse link
G Car9 carbonic anhydrase 9 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 5:57,763,234...57,769,838
Ensembl chr 5:57,763,206...57,769,838 		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:11207361 PMID:11940090 More... NCBI chr 5:57,749,502...57,752,920
Ensembl chr 5:57,748,999...57,752,918 		JBrowse link
G Ccin calicin ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 5:58,206,676...58,208,563
Ensembl chr 5:58,206,633...58,208,951 		JBrowse link
G Ccl19 C-C motif chemokine ligand 19 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 5:56,963,364...56,965,308
Ensembl chr 5:56,963,364...56,965,308 		JBrowse link
G Ccl21 C-C motif chemokine ligand 21 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 5:56,980,557...56,981,661
Ensembl chr 5:56,980,558...56,981,686 		JBrowse link
G Ccl27 C-C motif chemokine ligand 27 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 5:56,941,402...56,948,511
Ensembl chr 5:56,941,402...56,948,506 		JBrowse link
G Cd72 Cd72 molecule ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 5:57,697,361...57,704,980
Ensembl chr 5:57,697,367...57,704,725 		JBrowse link
G Cimip2b ciliary microtubule inner protein 2B ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 5:57,675,537...57,680,133
Ensembl chr 5:57,675,462...57,678,611 		JBrowse link
G Clta clathrin, light chain A ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 5:58,244,253...58,263,480
Ensembl chr 5:58,245,442...58,263,472 		JBrowse link
G Cntfr ciliary neurotrophic factor receptor ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 5:56,823,448...56,861,049
Ensembl chr 5:56,823,965...56,841,392 		JBrowse link
G Creb3 cAMP responsive element binding protein 3 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 5:57,817,865...57,823,233
Ensembl chr 5:57,817,832...57,824,390 		JBrowse link
G Dctn3 dynactin subunit 3 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 5:56,881,085...56,889,041
Ensembl chr 5:56,881,085...56,889,102 		JBrowse link
G Dnai1 dynein, axonemal, intermediate chain 1 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 5:56,730,179...56,800,926
Ensembl chr 5:56,730,179...56,800,925 		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 5:57,176,840...57,186,067
Ensembl chr 5:57,176,845...57,185,490 		JBrowse link
G Enho energy homeostasis associated ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 5:56,800,980...56,802,777
Ensembl chr 5:56,800,980...56,802,777 		JBrowse link
G Fam219a family with sequence similarity 219, member A ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 5:56,679,272...56,729,959
Ensembl chr 5:56,680,613...56,729,924 		JBrowse link
G Fam221b family with sequence similarity 221, member B ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 5:57,910,346...57,919,562
Ensembl chr 5:57,910,352...57,919,367 		JBrowse link
G Fancg FA complementation group G ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 5:57,230,287...57,240,067
Ensembl chr 5:57,231,685...57,240,029 		JBrowse link
G Galt galactose-1-phosphate uridylyltransferase ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 5:56,927,039...56,930,284
Ensembl chr 5:56,926,724...56,930,265 		JBrowse link
G Gba2 glucosylceramidase beta 2 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 5:57,822,389...57,834,522
Ensembl chr 5:57,822,389...57,834,072 		JBrowse link
G Glipr2 GLI pathogenesis-related 2 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 5:58,170,417...58,202,258
Ensembl chr 5:58,170,425...58,202,272 		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 5:58,267,189...58,307,396
Ensembl chr 5:58,267,210...58,307,499 		JBrowse link
G Hint2 histidine triad nucleotide binding protein 2 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 5:57,904,613...57,906,868
Ensembl chr 5:57,904,614...57,907,097 		JBrowse link
G Hrct1 histidine rich carboxyl terminus 1 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 5:57,982,344...57,983,186
Ensembl chr 5:57,982,470...57,982,790 		JBrowse link
G Il11ra1 interleukin 11 receptor subunit alpha 1 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 5:56,931,824...56,941,408
Ensembl chr 5:56,935,516...56,941,408 		JBrowse link
G Msmp microseminoprotein, prostate associated ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 5:57,838,935...57,839,985
Ensembl chr 5:57,838,935...57,839,985 		JBrowse link
G Myorg myogenesis regulating glycosidase ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 5:56,654,257...56,664,467
Ensembl chr 5:56,648,643...56,664,440 		JBrowse link
G Npr2 natriuretic peptide receptor 2 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 5:57,883,171...57,901,590
Ensembl chr 5:57,883,171...57,901,580 		JBrowse link
G Or13c7 olfactory receptor family 13 subfamily C member 7 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 5:58,081,150...58,082,109
Ensembl chr 5:58,077,726...58,083,852 		JBrowse link
G Or13j1 olfactory receptor family 13 subfamily J member 1 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 5:57,961,391...57,962,329
Ensembl chr 5:57,960,219...57,965,853 		JBrowse link
G Phf24 PHD finger protein 24 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 5:57,143,428...57,171,054
Ensembl chr 5:57,142,632...57,168,497 		JBrowse link
G Pigo phosphatidylinositol glycan anchor biosynthesis, class O ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 5:57,244,721...57,256,252
Ensembl chr 5:57,245,166...57,254,146 		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 5:58,102,961...58,169,516
Ensembl chr 5:58,102,981...58,169,502 		JBrowse link
G Rgp1 RGP1 homolog, RAB6A GEF complex partner 1 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 5:57,834,467...57,843,087
Ensembl chr 5:57,834,629...57,843,086 		JBrowse link
G Rpp25l ribonuclease P/MRP subunit p25 like ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 5:56,878,420...56,879,956
Ensembl chr 5:56,876,316...56,880,013 		JBrowse link
G Rusc2 RUN and SH3 domain containing 2 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 5:57,628,397...57,675,524
Ensembl chr 5:57,629,904...57,675,524 		JBrowse link
G Sigmar1 sigma non-opioid intracellular receptor 1 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 5:56,904,155...56,907,012
Ensembl chr 5:56,904,159...56,907,017 		JBrowse link
G Sit1 signaling threshold regulating transmembrane adaptor 1 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 5:57,740,212...57,741,838
Ensembl chr 5:57,740,218...57,741,838 		JBrowse link
G Spaar small regulatory polypeptide of amino acid response ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 5:57,985,423...57,987,482 JBrowse link
G Spag8 sperm associated antigen 8 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 5:57,901,681...57,903,894
Ensembl chr 5:57,901,682...57,903,894 		JBrowse link
G Spata31f1 SPATA31 subfamily F member 1 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 5:57,065,743...57,071,880
Ensembl chr 5:57,065,747...57,071,738 		JBrowse link
G Spata31f3 SPATA31 subfamily F member 3 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 5:57,087,305...57,093,191
Ensembl chr 5:57,087,320...57,093,164 		JBrowse link
G Spata31g1 SPATA31 subfamily G member 1 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 5:57,199,980...57,204,069
Ensembl chr 5:57,200,000...57,204,070 		JBrowse link
G Spmip6 sperm microtubule inner protein 6 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 5:56,666,160...56,678,865
Ensembl chr 5:56,666,058...56,678,923 		JBrowse link
G Stoml2 stomatin like 2 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 5:57,256,227...57,259,824
Ensembl chr 5:57,256,220...57,259,920 		JBrowse link
G Tesk1 testis associated actin remodelling kinase 1 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 5:57,691,922...57,697,698
Ensembl chr 5:57,691,969...57,697,698 		JBrowse link
G Tln1 talin 1 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 5:57,787,670...57,817,900
Ensembl chr 5:57,787,943...57,817,900 		JBrowse link
G Tmem8b transmembrane protein 8B ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 5:57,919,473...57,948,419
Ensembl chr 5:57,919,804...57,946,772 		JBrowse link
G Tpm2 tropomyosin 2 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 5:57,770,919...57,780,278
Ensembl chr 5:57,770,864...57,779,992 		JBrowse link
G Unc13b unc-13 homolog B ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 5:57,288,999...57,504,110
Ensembl chr 5:57,289,227...57,502,926 		JBrowse link
G Vcp valosin-containing protein ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 5:57,210,167...57,229,571
Ensembl chr 5:57,210,168...57,229,571 		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: Spondylometaepiphyseal dysplasia Menger type ClinVar PMID:8034306 PMID:9156319 PMID:10026268 PMID:11207361 PMID:11940090 More... NCBI chr 5:57,749,502...57,752,920
Ensembl chr 5:57,748,999...57,752,918 		JBrowse link
G Pop1 POP1 homolog, ribonuclease P/MRP subunit ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 7:65,705,348...65,733,143
Ensembl chr 7:65,705,368...65,733,141 		JBrowse link
anauxetic dysplasia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pop1 POP1 homolog, ribonuclease P/MRP subunit ISO ClinVar Annotator: match by term: Anauxetic dysplasia 2 | ClinVar Annotator: match by term: POP1-related condition OMIM
ClinVar		 PMID:21455487 PMID:21534943 PMID:25741868 PMID:27380734 PMID:28067412 More... NCBI chr 7:65,705,348...65,733,143
Ensembl chr 7:65,705,368...65,733,141 		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 OMIM
ClinVar		 PMID:25741868 PMID:26633546 PMID:29620724 PMID:31250547 NCBI chr11:55,958,265...55,970,432
Ensembl chr11:55,958,267...55,970,432 		JBrowse link
ankylosing spondylitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ace angiotensin I converting enzyme susceptibility ISO DNA:deletion:intron:IVS16+1464-1751del (human) RGD PMID:22876137 RGD:7829800 NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131 		JBrowse link
G Adipoq adiponectin, C1Q and collagen domain containing ISO protein:increased expression:serum RGD PMID:21122270 RGD:5686891 NCBI chr11:77,721,912...77,735,644
Ensembl chr11:77,721,912...77,735,564 		JBrowse link
G Ano6 anoctamin 6 severity ISO DNA:SNP: :rs17095830(human)
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:22138694 PMID:23308121 RGD:9684849 NCBI chr 7:126,933,919...127,113,588
Ensembl chr 7:126,933,936...127,113,589 		JBrowse link
G Antxr2 ANTXR cell adhesion molecule 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20062062 PMID:21743469 NCBI chr14:11,541,718...11,682,110
Ensembl chr14:11,541,772...11,682,094 		JBrowse link
G Aspn asporin susceptibility ISO DNA:repeats:exon: RGD PMID:20144272 RGD:9684964 NCBI chr17:15,079,910...15,104,369
Ensembl chr17:15,080,639...15,104,041 		JBrowse link
G Card9 caspase recruitment domain family, member 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21743469 NCBI chr 3:9,171,814...9,180,310
Ensembl chr 3:9,171,815...9,180,237 		JBrowse link
G Crp C-reactive protein disease_progression ISO protein:increased expression:serum: RGD PMID:22422197 PMID:6605119 RGD:6482308, RGD:9491788 NCBI chr13:85,135,384...85,175,178
Ensembl chr13:85,124,977...85,175,178 		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 8:58,096,021...58,102,130
Ensembl chr 8:58,096,077...58,102,125 		JBrowse link
G Erap1 endoplasmic reticulum aminopeptidase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17952073 PMID:20062062 PMID:21743469 PMID:23291587 NCBI chr 2:3,931,817...3,970,735
Ensembl chr 2:3,931,904...3,972,447 		JBrowse link
G Fcgr3a Fc gamma receptor 3A severity ISO protein:decreased expression:polymorphonuclear leucocyte RGD PMID:8453794 RGD:5508388 NCBI chr13:83,249,905...83,259,921
Ensembl chr13:83,249,872...83,259,921 		JBrowse link
G Igfbp3 insulin-like growth factor binding protein 3 ISO protein:decreased expression:serum RGD PMID:9851264 RGD:10402573 NCBI chr14:82,056,347...82,064,083
Ensembl chr14:82,056,347...82,064,083 		JBrowse link
G Il12b interleukin 12B ISO CTD Direct Evidence: marker/mechanism CTD PMID:21743469 NCBI chr10:28,888,832...28,903,802
Ensembl chr10:28,893,008...28,902,903 		JBrowse link
G Il17a interleukin 17A treatment ISO RGD PMID:24035250 RGD:9068448 NCBI chr 9:23,144,402...23,147,889
Ensembl chr 9:23,144,402...23,147,889 		JBrowse link
G Il1r2 interleukin 1 receptor type 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20062062 NCBI chr 9:42,384,280...42,424,726
Ensembl chr 9:42,384,433...42,424,725 		JBrowse link
G Il23r interleukin 23 receptor no_association ISO DNA:SNPs,haplotype:multiple:
CTD Direct Evidence: marker/mechanism
DNA:SNP: :rs11209026(human)		 CTD
RGD		 PMID:17952073 PMID:20062062 PMID:19522770 PMID:19877036 RGD:8549549, RGD:8549630 NCBI chr 4:96,580,568...96,672,540
Ensembl chr 4:96,580,714...96,674,021 		JBrowse link
G Il6 interleukin 6 ISO protein:increased expression:serum: RGD PMID:26339141 RGD:12792209 NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178 		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:151,768,621...151,778,521
Ensembl chr  X:151,768,777...151,778,521 		JBrowse link
G Jak2 Janus kinase 2 susceptibility ISO DNA:SNPs, haplotype:introns: (rs1536798, rs10119004, rs7857730) (human) RGD PMID:20627814 RGD:6483025 NCBI chr 1:226,995,334...227,054,381
Ensembl chr 1:226,995,334...227,054,189 		JBrowse link
G Kdm5a lysine demethylase 5A susceptibility ISO DNA:snps:intron:IVST>A, IVS-1467C>T, IVS+828T>C (rs7134353, rs2284336, rs11062357) (human) RGD PMID:24069348 RGD:9588532 NCBI chr 4:153,565,909...153,643,912
Ensembl chr 4:153,565,846...153,642,422 		JBrowse link
G Mthfr methylenetetrahydrofolate reductase susceptibility ISO DNA:SNP:cds:677C>T (human) RGD PMID:25060515 RGD:42722610 NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797 		JBrowse link
G Pgf placental growth factor ISO RGD PMID:21873332 RGD:6483576 NCBI chr 6:104,816,102...104,826,685
Ensembl chr 6:104,816,104...104,826,685 		JBrowse link
G Psmb9 proteasome 20S subunit beta 9 ISO DNA: snp: rs17587 RGD PMID:22034108 RGD:6483349 NCBI chr20:4,667,044...4,672,512
Ensembl chr20:4,666,046...4,672,512 		JBrowse link
G Ptger4 prostaglandin E receptor 4 ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:21743469 PMID:21743469 RGD:6483530 NCBI chr 2:54,330,563...54,347,451
Ensembl chr 2:54,335,424...54,346,670 		JBrowse link
G RT1-Ba RT1 class II, locus Ba severity ISO DNA:polymorphism:cds:HLA-DQA1*0401 (human) RGD PMID:19565552 RGD:5147611 NCBI chr20:4,575,134...4,579,727
Ensembl chr20:4,575,134...4,579,744 		JBrowse link
G RT1-Bb RT1 class II, locus Bb severity ISO DNA:polymorphism:cds:HLA-DQB1*0603 (human) RGD PMID:19565552 RGD:5147611 NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597 		JBrowse link
G RT1-CE13 RT1 class I, locus CE13 susceptibility ISO DNA:polymorphisms:cds:HLA-B27, HLA-B60 (human, Caucasian) RGD PMID:8733445 RGD:7364914 NCBI chr20:3,314,830...3,318,106 JBrowse link
G RT1-Db1 RT1 class II, locus Db1 severity ISO DNA:polymorphisms:cds:HLA-DRB1*0801, HLA-DRB1*0804 (human) RGD PMID:19565552 RGD:5147611 NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258 		JBrowse link
G RT1-M5 RT1 class Ib, locus M5 no_association ISO DNA:polymorphisms:cds:HLA-B2705 (human) RGD PMID:21927904 RGD:10755579 NCBI chr20:1,546,496...1,548,948
Ensembl chr20:1,546,511...1,548,775 		JBrowse link
G Runx3 RUNX family transcription factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21743469 NCBI chr 5:147,360,587...147,419,161
Ensembl chr 5:147,360,994...147,419,156 		JBrowse link
G Tap1 transporter 1, ATP binding cassette subfamily B member ISO DNA:SNPs: : RGD PMID:19480848 RGD:6482250 NCBI chr20:4,656,262...4,666,634
Ensembl chr20:4,656,263...4,666,901 		JBrowse link
G Tap2 transporter 2, ATP binding cassette subfamily B member ISO DNA:SNPs: : RGD PMID:19480848 RGD:6482250 NCBI chr20:4,636,347...4,650,387
Ensembl chr20:4,636,357...4,650,407 		JBrowse link
G Tbkbp1 TBK1 binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21743469 NCBI chr10:82,120,558...82,135,749
Ensembl chr10:82,120,564...82,134,352 		JBrowse link
G Thbd thrombomodulin ISO protein:increased expression:serum RGD PMID:21556780 RGD:5684983 NCBI chr 3:135,863,366...135,867,018
Ensembl chr 3:135,862,835...135,867,193 		JBrowse link
G Tlr4 toll-like receptor 4 ISO mRNA:increased expression:blood cell: RGD PMID:20952467 RGD:7794744 NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628 		JBrowse link
G Tlr5 toll-like receptor 5 ISO mRNA:increased expression:blood cell: RGD PMID:20952467 RGD:7794744 NCBI chr13:94,634,778...94,658,992
Ensembl chr13:94,634,801...94,657,738 		JBrowse link
G Tnfrsf1b TNF receptor superfamily member 1B ISO RGD PMID:21317434 RGD:5131280 NCBI chr 5:157,070,642...157,104,216
Ensembl chr 5:157,070,642...157,104,206 		JBrowse link
G Vip vasoactive intestinal peptide ISO protein:increased expression:plasma RGD PMID:20340024 RGD:5685387 NCBI chr 1:42,064,878...42,073,219
Ensembl chr 1:42,065,120...42,073,216 		JBrowse link
astroblastoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mir542 microRNA 542 disease_progression ISO RGD PMID:26286747 RGD:13782052 NCBI chr  X:132,802,623...132,802,701
Ensembl chr  X:132,802,623...132,802,701 		JBrowse link
G Pik3r1 phosphoinositide-3-kinase regulatory subunit 1 severity ISO RGD PMID:26956052 PMID:26286747 RGD:11343921, RGD:13782052 NCBI chr 2:32,878,942...32,963,668
Ensembl chr 2:32,882,032...32,963,631 		JBrowse link
astroblastoma, MN1-altered term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atm ATM serine/threonine kinase ISO ClinVar Annotator: match by term: Astroblastoma, MN1-altered ClinVar PMID:17344846 PMID:20305132 PMID:25741868 PMID:25980754 PMID:26206375 More... NCBI chr 8:53,828,741...53,932,773
Ensembl chr 8:53,831,093...53,932,437 		JBrowse link
G C8h11orf65 similar to human chromosome 11 open reading frame 65 ISO ClinVar Annotator: match by term: Astroblastoma, MN1-altered ClinVar PMID:17344846 PMID:20305132 PMID:25741868 PMID:25980754 PMID:26206375 More... NCBI chr 8:53,796,033...53,825,277
Ensembl chr 8:53,796,366...53,824,748 		JBrowse link
G Tsc2 TSC complex subunit 2 ISO ClinVar Annotator: match by term: Astroblastoma, MN1-altered ClinVar PMID:25741868 PMID:28492532 NCBI chr10:13,621,135...13,655,773
Ensembl chr10:13,621,136...13,655,951 		JBrowse link
atelosteogenesis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc26a2 solute carrier family 26 member 2 ISO ClinVar Annotator: match by term: Atelosteogenesis ClinVar NCBI chr18:54,648,276...54,666,627
Ensembl chr18:54,652,951...54,666,626 		JBrowse link
Atelosteogenesis Type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Flnb filamin B ISO ClinVar Annotator: match by term: Atelosteogenesis type I | ClinVar Annotator: match by term: Spondylohumerofemoral hypoplasia
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:14991055 PMID:16752402 PMID:20301736 PMID:22190451 PMID:24624349 More... NCBI chr15:16,961,999...17,095,059
Ensembl chr15:16,962,003...17,095,006 		JBrowse link
Atelosteogenesis Type 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc26a2 solute carrier family 26 member 2 ISO ClinVar Annotator: match by term: Atelosteogenesis type 2 | ClinVar Annotator: match by term: Atelosteogenesis type II | ClinVar Annotator: match by term: De la Chapelle dysplasia | ClinVar Annotator: match by term: NEONATAL OSSEOUS DYSPLASIA I | ClinVar Annotator: match by term: Neonatal osseous dysplasia 1
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:4644462 PMID:7695699 PMID:7923357 PMID:8218237 PMID:8528239 More... NCBI chr18:54,648,276...54,666,627
Ensembl chr18:54,652,951...54,666,626 		JBrowse link
Atelosteogenesis Type 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Flnb filamin B ISO ClinVar Annotator: match by term: Atelosteogenesis type 3 | ClinVar Annotator: match by term: Atelosteogenesis type III
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:14991055 PMID:17576681 PMID:20301736 PMID:22190451 More... NCBI chr15:16,961,999...17,095,059
Ensembl chr15:16,962,003...17,095,006 		JBrowse link
autosomal dominant osteopetrosis 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clcn7 chloride voltage-gated channel 7 ISO
ISS		 ClinVar Annotator: match by term: ALBERS-SCHONBERG DISEASE, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Autosomal dominant osteopetrosis 2
OMIM:166600		 OMIM
ClinVar
MouseDO		 PMID:1516225 PMID:9536098 PMID:11468688 PMID:11741829 PMID:14584882 More... NCBI chr10:14,151,758...14,177,130
Ensembl chr10:14,151,758...14,177,130 		JBrowse link
brain glioblastoma multiforme term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eef2 eukaryotic translation elongation factor 2 ISO protein:increased expression:brain (human) RGD PMID:24589652 RGD:153297816 NCBI chr 7:8,533,248...8,538,518
Ensembl chr 7:8,533,116...8,559,183 		JBrowse link
G Mir139 microRNA 139 ISO RNA:decreased expression:brain: RGD PMID:26449464 RGD:13838722 NCBI chr 1:155,878,828...155,878,895
Ensembl chr 1:155,878,825...155,878,902 		JBrowse link
G Ncam1 neural cell adhesion molecule 1 disease_progression ISO RGD PMID:20219118 RGD:40924672 NCBI chr 8:49,865,629...50,165,687
Ensembl chr 8:49,865,633...50,166,014 		JBrowse link
G Sufu SUFU negative regulator of hedgehog signaling IEP human, rat, and/or mouse glioma cells in a mouse model RGD PMID:30790292 RGD:150573813 NCBI chr 1:245,257,725...245,355,576
Ensembl chr 1:245,257,768...245,355,577 		JBrowse link
brain glioma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adam3a ADAM metallopeptidase domain 3A ISO DNA:deletion RGD PMID:21138945 RGD:13831351 NCBI chr16:67,299,949...67,349,970
Ensembl chr16:67,299,949...67,349,968 		JBrowse link
G Bax BCL2 associated X, apoptosis regulator treatment IEP
IDA		 RGD PMID:27255231 PMID:29324390 RGD:13792502, RGD:13792598 NCBI chr 1:95,940,001...95,945,407
Ensembl chr 1:95,938,808...95,945,368 		JBrowse link
G Bcl2 BCL2, apoptosis regulator treatment IEP
IDA		 RGD PMID:27255231 PMID:29324390 RGD:13792502, RGD:13792598 NCBI chr13:22,689,783...22,853,920
Ensembl chr13:22,684,989...22,853,743
Ensembl chr13:22,684,989...22,853,743 		JBrowse link
G Birc3 baculoviral IAP repeat-containing 3 exacerbates ISO mRNA:increased expression:brain (human) RGD PMID:31964418 RGD:153344516 NCBI chr 8:5,000,844...5,028,470
Ensembl chr 8:5,000,845...5,015,802 		JBrowse link
G Birc5 baculoviral IAP repeat-containing 5 exacerbates ISO mRNA:increased expression:brain (human) RGD PMID:31964418 RGD:153344516 NCBI chr10:103,072,530...103,081,382
Ensembl chr10:103,073,408...103,081,380 		JBrowse link
G Bst2 bone marrow stromal cell antigen 2 ISO mRNA,protein:increased expression:brain: RGD PMID:21565182 RGD:14398497 NCBI chr16:18,216,605...18,220,979
Ensembl chr16:18,217,407...18,220,979 		JBrowse link
G Casp3 caspase 3 treatment IDA RGD PMID:29324390 RGD:13792598 NCBI chr16:45,662,910...45,681,171
Ensembl chr16:45,662,910...45,684,648 		JBrowse link
G Fadd Fas associated via death domain treatment IEP RGD PMID:27255231 RGD:13792502 NCBI chr 1:199,743,200...199,745,746
Ensembl chr 1:199,739,994...199,745,653 		JBrowse link
G Fas Fas cell surface death receptor treatment IDA RGD PMID:29324390 RGD:13792598 NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591 		JBrowse link
G Faslg Fas ligand treatment IDA RGD PMID:29324390 RGD:13792598 NCBI chr13:74,151,519...74,172,760
Ensembl chr13:74,154,954...74,162,215 		JBrowse link
G Foxa1 forkhead box A1 disease_progression ISO RGD PMID:23510544 RGD:151665742 NCBI chr 6:75,099,907...75,136,534
Ensembl chr 6:75,103,503...75,136,188 		JBrowse link
G Gapdh glyceraldehyde-3-phosphate dehydrogenase IEP RGD PMID:26032618 RGD:13792685 NCBI chr 4:157,962,312...157,967,158
Ensembl chr 4:157,962,343...157,966,235 		JBrowse link
G Kdr kinase insert domain receptor ISO protein:increased expression:brain (human) RGD PMID:33900414 RGD:151660356 NCBI chr14:32,217,871...32,261,018
Ensembl chr14:32,217,871...32,261,018 		JBrowse link
G Mir21 microRNA 21 ISO human cells in mouse model; RNA:increased expression:brain (human) RGD PMID:25059666 RGD:152998875 NCBI chr10:71,405,257...71,405,348
Ensembl chr10:71,405,257...71,405,348 		JBrowse link
G Naip6 NLR family, apoptosis inhibitory protein 6 exacerbates ISO mRNA:increased expression:brain (human) RGD PMID:31964418 RGD:153344516 NCBI chr 2:31,507,423...31,559,098
Ensembl chr 2:31,507,424...31,570,542 		JBrowse link
G Ptprb protein tyrosine phosphatase, receptor type, B ISO protein:increased expression:brain (human)
human cell in mouse model		 RGD PMID:33900414 PMID:16923162 RGD:151660356, RGD:151660368 NCBI chr 7:51,953,375...52,034,751
Ensembl chr 7:51,930,015...52,034,748 		JBrowse link
G Vegfa vascular endothelial growth factor A ISO protein:increased expression:brain (human) RGD PMID:33900414 RGD:151660356 NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641 		JBrowse link
G Xrcc1 X-ray repair cross complementing 1 susceptibility ISO DNA:SNP:exon 10: p.R399Q (human) RGD PMID:18330515 RGD:401827274 NCBI chr 1:80,140,495...80,168,705
Ensembl chr 1:80,141,207...80,168,701 		JBrowse link
G Xrcc3 X-ray repair cross complementing 3 susceptibility ISO DNA:SNP:exon 8: p.T241M (rs861539) (Human) RGD PMID:18330515 RGD:401827274 NCBI chr 6:130,863,405...130,873,765
Ensembl chr 6:130,863,959...130,872,444 		JBrowse link
brain stem glioma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pax3 paired box 3 ISO mRNA,protein:increased expression:brain stem: RGD PMID:25330836 RGD:13702891 NCBI chr 9:79,567,455...79,664,042
Ensembl chr 9:79,568,634...79,664,042 		JBrowse link
G Pdgfra platelet derived growth factor receptor alpha severity ISO RGD PMID:20197468 RGD:13702892 NCBI chr14:33,005,838...33,054,347
Ensembl chr14:33,005,839...33,054,335 		JBrowse link
Camptocormia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gdf3 growth differentiation factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22613031 NCBI chr 4:155,831,572...155,835,953
Ensembl chr 4:155,830,909...155,835,937 		JBrowse link
G Myh7 myosin heavy chain 7 ISO ClinVar Annotator: match by term: Bent Spine Syndrome ClinVar PMID:12707239 PMID:23861362 PMID:24793961 PMID:25467552 PMID:25741868 More... NCBI chr15:28,446,550...28,469,888
Ensembl chr15:28,446,550...28,468,217 		JBrowse link
G Polg DNA polymerase gamma, catalytic subunit ISO ClinVar Annotator: match by term: Bent Spine Syndrome ClinVar PMID:16621917 PMID:17452231 PMID:18546365 PMID:19189930 PMID:19578034 More... NCBI chr 1:133,382,764...133,399,578
Ensembl chr 1:133,382,766...133,398,567 		JBrowse link
G Rrm2b ribonucleotide reductase regulatory TP53 inducible subunit M2B ISO ClinVar Annotator: match by term: Bent Spine Syndrome ClinVar PMID:17486094 PMID:21378381 PMID:24741716 PMID:25741868 PMID:28492532 More... NCBI chr 7:69,077,024...69,108,742
Ensembl chr 7:69,078,291...69,108,633 		JBrowse link
CEREBELLAR DYSFUNCTION, IMPAIRED INTELLECTUAL DEVELOPMENT, AND HYPOGONADOTROPIC HYPOGONADISM term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Prdm13 PR/SET domain 13 ISO ClinVar Annotator: match by term: Cerebellar dysfunction, impaired intellectual development, and hypogonadotropic hypogonadism | ClinVar Annotator: match by term: PRDM13-related condition OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:34730112 NCBI chr 5:35,220,815...35,232,866
Ensembl chr 5:35,225,435...35,232,881 		JBrowse link
cerebellar medulloblastoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Msh6 mutS homolog 6 ISO ClinVar Annotator: match by term: Cerebellar medulloblastoma ClinVar NCBI chr 6:6,562,631...6,579,995
Ensembl chr 6:6,562,632...6,579,956 		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 | 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: HTRA1-related cerebral small vessel disease
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:11889251 PMID:18316707 PMID:19387015 PMID:20437615 PMID:21115960 More... NCBI chr 1:185,497,815...185,547,380
Ensembl chr 1:185,497,735...185,547,379 		JBrowse link
G Pura purine rich element binding protein A ISO ClinVar Annotator: match by term: Cerebrovascular disease with thin skin, alopecia, and disc disease ClinVar PMID:24500651 PMID:27148565 NCBI chr18:27,885,071...27,905,509
Ensembl chr18:27,884,556...27,905,513 		JBrowse link
childhood astrocytic tumor term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rtel1 regulator of telomere elongation helicase 1 ameliorates
susceptibility		 ISO DNA:SNP:cds:rs6089953|rs6010620|rs2297440 (human)
DNA:SNP:cds:rs4809324 (human)		 RGD PMID:26014354 PMID:26014354 RGD:152985535, RGD:152985535 NCBI chr 3:168,427,247...168,465,349
Ensembl chr 3:168,419,579...168,465,348 		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 chr11:83,957,813...84,023,629
Ensembl chr11:83,957,813...84,023,616 		JBrowse link
chordoid glioma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Prkca protein kinase C, alpha ISO DNA:mutation:cds:c.1387G>C,p.D463H(human) RGD PMID:29476136 RGD:13782058 NCBI chr10:92,889,390...93,288,013
Ensembl chr10:92,894,012...93,288,012 		JBrowse link
chromosome 13q14 deletion syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acod1 aconitate decarboxylase 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:79,871,819...79,881,101
Ensembl chr15:79,871,827...79,880,529 		JBrowse link
G Alg11 ALG11, alpha-1,2-mannosyltransferase ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr16:69,940,540...69,951,617
Ensembl chr16:69,944,349...69,951,601 		JBrowse link
G Arl11 ADP-ribosylation factor like GTPase 11 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:35,483,330...35,485,579
Ensembl chr15:35,480,018...35,496,596 		JBrowse link
G Atp7b ATPase copper transporting beta ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr16:69,952,286...70,024,404
Ensembl chr16:69,951,778...70,023,636 		JBrowse link
G Bora bora, aurora kinase A activator ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:75,797,624...75,835,599
Ensembl chr15:75,797,891...75,821,322 		JBrowse link
G C15h13orf42 similar to human chromosome 13 open reading frame 42 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:36,674,840...36,701,304
Ensembl chr15:36,677,527...36,701,211 		JBrowse link
G Cab39l calcium binding protein 39-like ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:33,606,588...33,710,518
Ensembl chr15:33,606,694...33,743,545 		JBrowse link
G Ccdc70 coiled-coil domain containing 70 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr16:70,037,309...70,042,401
Ensembl chr16:70,037,309...70,042,339 		JBrowse link
G Cdadc1 cytidine and dCMP deaminase domain containing 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:33,726,590...33,755,611
Ensembl chr15:33,723,435...33,755,576 		JBrowse link
G Ckap2 cytoskeleton associated protein 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr16:69,839,668...69,864,852
Ensembl chr16:69,839,630...69,864,913 		JBrowse link
G Cln5 CLN5, intracellular trafficking protein ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:79,893,573...79,903,438
Ensembl chr15:79,893,548...79,903,438 		JBrowse link
G Cnmd chondromodulin ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:55,041,548...55,066,297
Ensembl chr15:55,041,561...55,066,297 		JBrowse link
G Commd6 COMM domain containing 6 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:78,467,333...78,474,382
Ensembl chr15:78,467,804...78,474,382 		JBrowse link
G Cysltr2 cysteinyl leukotriene receptor 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:48,189,476...48,228,750
Ensembl chr15:48,189,073...48,304,136 		JBrowse link
G Dach1 dachshund family transcription factor 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:74,528,122...74,909,811
Ensembl chr15:74,529,208...74,909,922 		JBrowse link
G Diaph3 diaphanous-related formin 3 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:62,543,375...63,013,060
Ensembl chr15:62,543,375...63,012,975 		JBrowse link
G Dis3 DIS3 homolog, exosome endoribonuclease and 3'-5' exoribonuclease ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:75,820,040...75,850,450
Ensembl chr15:75,823,436...75,850,642 		JBrowse link
G Dleu7 deleted in lymphocytic leukemia, 7 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:36,479,533...36,495,730
Ensembl chr15:36,479,534...36,495,697 		JBrowse link
G Ebpl EBP like ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:35,508,074...35,531,472
Ensembl chr15:35,508,074...35,531,472 		JBrowse link
G Ednrb endothelin receptor type B ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:80,640,839...80,672,115
Ensembl chr15:80,643,043...80,672,115 		JBrowse link
G Fam124a family with sequence similarity 124 member A ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:36,799,836...36,855,062
Ensembl chr15:36,799,877...36,853,683 		JBrowse link
G Fbxl3 F-box and leucine-rich repeat protein 3 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:79,906,795...79,926,678
Ensembl chr15:79,906,795...79,927,867 		JBrowse link
G Fndc3a fibronectin type III domain containing 3a ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:47,689,909...47,867,354
Ensembl chr15:47,689,919...47,866,784 		JBrowse link
G Ints6 integrator complex subunit 6 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:36,908,966...37,048,043
Ensembl chr15:36,933,724...37,021,527 		JBrowse link
G Itm2b integral membrane protein 2B ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:48,545,998...48,568,904
Ensembl chr15:48,546,001...48,568,917 		JBrowse link
G Kcnrg potassium channel regulator ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:35,774,456...35,779,409
Ensembl chr15:35,774,326...35,779,415 		JBrowse link
G Kctd12 potassium channel tetramerization domain containing 12 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:79,800,078...79,806,017
Ensembl chr15:79,801,191...79,806,282 		JBrowse link
G Klf12 KLF transcription factor 12 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:76,628,778...77,062,000
Ensembl chr15:76,637,654...77,062,056 		JBrowse link
G Klf5 KLF transcription factor 5 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:76,060,320...76,079,445
Ensembl chr15:76,064,258...76,079,445 		JBrowse link
G Klhl1 kelch-like family member 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:72,698,191...73,142,726
Ensembl chr15:72,699,094...73,142,594 		JBrowse link
G Kpna3 karyopherin subunit alpha 3 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:35,536,310...35,610,066
Ensembl chr15:35,536,316...35,610,419 		JBrowse link
G Lmo7 LIM domain 7 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:78,566,999...78,769,833
Ensembl chr15:78,567,023...78,769,783 		JBrowse link
G Lpar6 lysophosphatidic acid receptor 6 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:48,416,548...48,418,357
Ensembl chr15:48,416,544...48,422,331 		JBrowse link
G Med4 mediator complex subunit 4 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:48,696,542...48,706,818
Ensembl chr15:48,696,511...48,706,820 		JBrowse link
G Mycbp2 MYC binding protein 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:79,937,354...80,175,432
Ensembl chr15:79,937,354...80,175,498 		JBrowse link
G Mzt1 mitotic spindle organizing protein 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:75,787,281...75,797,589
Ensembl chr15:75,786,994...75,797,589 		JBrowse link
G Ndfip2 Nedd4 family interacting protein 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:82,032,366...82,087,043
Ensembl chr15:82,032,366...82,086,317 		JBrowse link
G Nek3 NIMA-related kinase 3 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr16:69,867,020...69,892,477
Ensembl chr16:69,867,047...69,892,508 		JBrowse link
G Nek5 NIMA-related kinase 5 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr16:69,895,414...69,938,668
Ensembl chr16:69,895,422...69,939,429 		JBrowse link
G Nudt15 nudix hydrolase 15 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:48,707,776...48,713,847
Ensembl chr15:48,709,700...48,747,363 		JBrowse link
G Obi1 ORC ubiquitin ligase 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:81,269,413...81,308,734
Ensembl chr15:81,269,416...81,308,734 		JBrowse link
G Olfm4 olfactomedin 4 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:55,385,100...55,429,687
Ensembl chr15:55,407,148...55,429,681 		JBrowse link
G Pcdh17 protocadherin 17 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:60,222,088...60,316,172
Ensembl chr15:60,222,004...60,313,999 		JBrowse link
G Pcdh20 protocadherin 20 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:64,425,534...64,431,790
Ensembl chr15:64,425,534...64,431,790 		JBrowse link
G Pcdh8 protocadherin 8 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:55,198,470...55,203,039
Ensembl chr15:55,198,459...55,205,872 		JBrowse link
G Pcdh9 protocadherin 9 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:69,340,108...70,237,531
Ensembl chr15:69,340,645...70,237,538 		JBrowse link
G Phf11 PHD finger protein 11 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:33,390,290...33,414,647
Ensembl chr15:33,390,292...33,413,009 		JBrowse link
G Pibf1 progesterone immunomodulatory binding factor 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:75,850,389...76,019,711
Ensembl chr15:75,850,624...76,019,712 		JBrowse link
G Pou4f1 POU class 4 homeobox 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:81,253,714...81,260,057
Ensembl chr15:81,257,781...81,259,728 		JBrowse link
G Prr20e proline rich 20E ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr 4:121,566,632...121,574,734
Ensembl chr 4:121,571,797...121,573,140 		JBrowse link
G Rb1 RB transcriptional corepressor 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:48,371,295...48,502,473
Ensembl chr15:48,371,296...48,502,302 		JBrowse link
G Rbm26 RNA binding motif protein 26 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:81,884,783...81,964,245
Ensembl chr15:81,887,219...81,964,118 		JBrowse link
G Rcbtb1 RCC1 and BTB domain containing protein 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:33,319,586...33,362,421
Ensembl chr15:33,319,586...33,365,302 		JBrowse link
G Rcbtb2 RCC1 and BTB domain containing protein 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:48,319,809...48,364,441
Ensembl chr15:48,323,866...48,383,750 		JBrowse link
G Rnaseh2b ribonuclease H2, subunit B ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:36,541,200...36,592,016
Ensembl chr15:36,541,218...36,584,118 		JBrowse link
G Scel sciellin ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:80,339,661...80,456,546
Ensembl chr15:80,339,951...80,456,372 		JBrowse link
G Serpine3 serpin family E member 3 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:36,908,816...36,931,825
Ensembl chr15:36,907,131...36,933,150 		JBrowse link
G Setdb2 SET domain bifurcated histone lysine methyltransferase 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:33,553,657...33,606,586
Ensembl chr15:33,453,952...33,606,470 		JBrowse link
G Slain1 SLAIN motif family, member 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:80,482,818...80,542,461
Ensembl chr15:80,482,367...80,542,350 		JBrowse link
G Slitrk1 SLIT and NTRK-like family, member 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:85,723,252...85,727,290
Ensembl chr15:85,724,475...85,727,509 		JBrowse link
G Slitrk6 SLIT and NTRK-like family, member 6 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:87,563,506...87,570,125
Ensembl chr15:87,563,322...87,570,393 		JBrowse link
G Spry2 sprouty RTK signaling antagonist 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:82,692,291...82,697,408
Ensembl chr15:82,692,143...82,698,009 		JBrowse link
G Spryd7 SPRY domain containing 7 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:35,707,185...35,727,704
Ensembl chr15:35,707,060...35,727,509 		JBrowse link
G Sucla2 succinate-CoA ligase ADP-forming subunit beta ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:48,752,356...48,805,495
Ensembl chr15:48,752,312...48,805,138 		JBrowse link
G Sugt1 SGT1 homolog, MIS12 kinetochore complex assembly cochaperone ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:54,991,419...55,032,244
Ensembl chr15:54,990,672...55,069,150 		JBrowse link
G Tbc1d4 TBC1 domain family, member 4 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:78,256,030...78,434,168
Ensembl chr15:78,257,121...78,434,265 		JBrowse link
G Tdrd3 tudor domain containing 3 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:63,340,531...63,497,208
Ensembl chr15:63,341,235...63,476,110 		JBrowse link
G Thsd1 thrombospondin type 1 domain containing 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr16:69,771,408...69,804,844
Ensembl chr16:69,771,408...69,801,504 		JBrowse link
G Trim13 tripartite motif-containing 13 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:35,733,548...35,772,676
Ensembl chr15:35,734,107...35,772,677 		JBrowse link
G Uchl3 ubiquitin C-terminal hydrolase L3 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:78,485,304...78,527,355
Ensembl chr15:78,485,315...78,527,355
Ensembl chr 3:78,485,315...78,527,355 		JBrowse link
G Vps36 vacuolar protein sorting 36 homolog ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr16:69,810,404...69,834,789
Ensembl chr16:69,808,193...69,834,810 		JBrowse link
G Wdfy2 WD repeat and FYVE domain containing 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:37,083,842...37,209,559
Ensembl chr15:37,042,987...37,209,304 		JBrowse link
chronic recurrent multifocal osteomyelitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acyp2 acylphosphatase 2 ISO ClinVar Annotator: match by term: Chronic osteomyelitis ClinVar NCBI chr14:104,201,894...104,371,415
Ensembl chr14:104,201,895...104,371,386 		JBrowse link
G Il1r1 interleukin 1 receptor type 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Chronic multifocal osteomyelitis		 CTD
ClinVar		 NCBI chr 9:42,504,917...42,580,958
Ensembl chr 9:42,504,735...42,579,937 		JBrowse link
G Mlkl mixed lineage kinase domain like pseudokinase ISO ClinVar Annotator: match by term: Chronic multifocal osteomyelitis ClinVar NCBI chr19:39,277,526...39,304,555
Ensembl chr19:39,276,785...39,304,502 		JBrowse link
G Mynn myoneurin ISO ClinVar Annotator: match by term: Chronic osteomyelitis ClinVar NCBI chr 2:112,779,654...112,797,188
Ensembl chr 2:112,779,657...112,796,397 		JBrowse link
G Pstpip2 proline-serine-threonine phosphatase-interacting protein 2 ISS OMIM:259680 MouseDO NCBI chr18:71,310,387...71,396,752
Ensembl chr18:71,311,020...71,395,709 		JBrowse link
G Tert telomerase reverse transcriptase ISO ClinVar Annotator: match by term: Chronic osteomyelitis ClinVar PMID:16890917 PMID:28492532 NCBI chr 1:29,637,213...29,659,561
Ensembl chr 1:29,637,506...29,659,561 		JBrowse link
G Zbtb46 zinc finger and BTB domain containing 46 ISO ClinVar Annotator: match by term: Chronic osteomyelitis ClinVar NCBI chr 3:168,497,294...168,567,799
Ensembl chr 3:168,499,583...168,568,782 		JBrowse link
Chronic recurrent multifocal osteomyelitis 2, with periostitis and pustulosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il1f10 interleukin 1 family member 10 ISO ClinVar Annotator: match by term: Sterile multifocal osteomyelitis with periostitis and pustulosis ClinVar PMID:19494218 PMID:21792839 PMID:22940634 PMID:23698098 PMID:26100510 More... NCBI chr 3:7,072,511...7,075,439
Ensembl chr 3:7,072,511...7,075,439 		JBrowse link
G Il1rn interleukin 1 receptor antagonist ISO ClinVar Annotator: match by term: Sterile multifocal osteomyelitis with periostitis and pustulosis
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:12837270 PMID:16199547 PMID:16519819 PMID:17576681 More... NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445 		JBrowse link
G Il36rn interleukin 36 receptor antagonist ISO ClinVar Annotator: match by term: Sterile multifocal osteomyelitis with periostitis and pustulosis ClinVar PMID:19494218 PMID:21792839 PMID:22940634 PMID:23698098 PMID:26100510 More... NCBI chr 3:7,044,419...7,051,016
Ensembl chr 3:7,044,406...7,051,016 		JBrowse link
G Nfkbia NFKB inhibitor alpha ISO ClinVar Annotator: match by term: Sterile multifocal osteomyelitis with periostitis and pustulosis ClinVar NCBI chr 6:72,858,713...72,861,941
Ensembl chr 6:72,858,712...72,861,941 		JBrowse link
Chronic recurrent multifocal osteomyelitis 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il1r1 interleukin 1 receptor type 1 ISO OMIM NCBI chr 9:42,504,917...42,580,958
Ensembl chr 9:42,504,735...42,579,937 		JBrowse link
congenital myopathy 19 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pax7 paired box 7 ISO ClinVar Annotator: match by term: Myopathy, congenital, progressive, with scoliosis OMIM
ClinVar		 PMID:25741868 PMID:31092906 PMID:32214227 NCBI chr 5:151,996,368...152,098,023
Ensembl chr 5:151,999,092...152,097,979 		JBrowse link
desmoplastic/nodular medulloblastoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Actr1a actin related protein 1A ISO ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma ClinVar PMID:12068298 NCBI chr 1:245,237,821...245,256,618
Ensembl chr 1:245,237,826...245,256,495 		JBrowse link
G Arid2 AT-rich interaction domain 2 ISO ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma ClinVar PMID:26580448 NCBI chr 7:127,447,192...127,565,987
Ensembl chr 7:127,447,278...127,563,512 		JBrowse link
G Arl3 ADP ribosylation factor like GTPase 3 ISO ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma ClinVar PMID:12068298 NCBI chr 1:245,400,659...245,446,673
Ensembl chr 1:245,400,550...245,446,820 		JBrowse link
G As3mt arsenite methyltransferase ISO ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma ClinVar PMID:12068298 NCBI chr 1:245,595,939...245,628,921
Ensembl chr 1:245,596,108...245,627,872 		JBrowse link
G Atp5mk ATP synthase membrane subunit K ISO ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma ClinVar PMID:12068298 NCBI chr 1:245,973,910...245,980,702
Ensembl chr 1:245,973,914...245,980,761
Ensembl chr10:245,973,914...245,980,761 		JBrowse link
G Borcs7 BLOC-1 related complex subunit 7 ISO ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma ClinVar PMID:12068298 NCBI chr 1:245,564,347...245,578,182
Ensembl chr 1:245,564,369...245,579,343 		JBrowse link
G C1h10orf95 similar to human chromosome 10 open reading frame 95 ISO ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma ClinVar PMID:12068298 NCBI chr 1:245,210,228...245,212,080
Ensembl chr 1:245,210,973...245,211,602 		JBrowse link
G Calhm1 calcium homeostasis modulator 1 ISO ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma ClinVar PMID:12068298 NCBI chr 1:246,030,269...246,032,988
Ensembl chr 1:246,030,269...246,032,988 		JBrowse link
G Calhm2 calcium homeostasis modulator family member 2 ISO ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma ClinVar PMID:12068298 NCBI chr 1:246,022,324...246,028,050
Ensembl chr 1:246,022,324...246,028,218 		JBrowse link
G Calhm3 calcium homeostasis modulator 3 ISO ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma ClinVar PMID:12068298 NCBI chr 1:246,043,258...246,048,259
Ensembl chr 1:246,043,258...246,048,259 		JBrowse link
G Cfap43 cilia and flagella associated protein 43 ISO ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma ClinVar PMID:12068298 NCBI chr 1:246,625,259...246,712,438
Ensembl chr 1:246,625,262...246,712,443 		JBrowse link
G Cfap58 cilia and flagella associated protein 58 ISO ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma ClinVar PMID:12068298 NCBI chr 1:246,802,691...246,911,363
Ensembl chr 1:246,802,665...246,911,374 		JBrowse link
G Cnnm2 cyclin and CBS domain divalent metal cation transport mediator 2 ISO ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma ClinVar PMID:12068298 NCBI chr 1:245,643,682...245,769,542
Ensembl chr 1:245,643,768...245,763,286 		JBrowse link
G Col17a1 collagen type XVII alpha 1 chain ISO ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma ClinVar PMID:12068298 NCBI chr 1:246,530,589...246,577,559
Ensembl chr 1:246,531,367...246,577,632 		JBrowse link
G Ctcf CCCTC-binding factor ISO ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma ClinVar NCBI chr19:33,521,726...33,571,124
Ensembl chr19:33,529,319...33,571,123 		JBrowse link
G Cyp17a1 cytochrome P450, family 17, subfamily a, polypeptide 1 ISO ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma ClinVar PMID:12068298 NCBI chr 1:245,535,462...245,543,148
Ensembl chr 1:245,535,462...245,541,573 		JBrowse link
G Gsto1 glutathione S-transferase omega 1 ISO ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma ClinVar PMID:12068298 NCBI chr 1:246,721,089...246,731,228
Ensembl chr 1:246,721,221...246,731,468 		JBrowse link
G Gsto2 glutathione S-transferase omega 2 ISO ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma ClinVar PMID:12068298 NCBI chr 1:246,731,314...246,757,592
Ensembl chr 1:246,732,089...246,753,866 		JBrowse link
G Ina internexin neuronal intermediate filament protein, alpha ISO ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma ClinVar PMID:12068298 NCBI chr 1:245,896,775...245,908,330
Ensembl chr 1:245,896,775...245,908,330 		JBrowse link
G Itprip inositol 1,4,5-trisphosphate receptor interacting protein ISO ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma ClinVar PMID:12068298 NCBI chr 1:246,762,804...246,786,379
Ensembl chr 1:246,762,472...246,786,408 		JBrowse link
G Mfsd13a major facilitator superfamily domain containing 13A ISO ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma ClinVar PMID:12068298 NCBI chr 1:245,216,610...245,236,314
Ensembl chr 1:245,217,067...245,236,767 		JBrowse link
G Neurl1 neuralized E3 ubiquitin protein ligase 1 ISO ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma ClinVar PMID:12068298 NCBI chr 1:246,066,830...246,152,890
Ensembl chr 1:246,067,100...246,152,903 		JBrowse link
G Nt5c2 5'-nucleotidase, cytosolic II ISO ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma ClinVar PMID:12068298 NCBI chr 1:245,770,993...245,896,925
Ensembl chr 1:245,772,277...245,897,913 		JBrowse link
G Pcgf6 polycomb group ring finger 6 ISO ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma ClinVar PMID:12068298 NCBI chr 1:245,925,354...245,944,964
Ensembl chr 1:245,925,360...245,944,914 		JBrowse link
G Pdcd11 programmed cell death 11 ISO ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma ClinVar PMID:12068298 NCBI chr 1:245,980,840...246,021,999
Ensembl chr 1:245,980,880...246,021,999 		JBrowse link
G Sfr1 SWI5-dependent homologous recombination repair protein 1 ISO ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma ClinVar PMID:12068298 NCBI chr 1:246,619,235...246,623,250
Ensembl chr 1:246,597,044...246,623,250 		JBrowse link
G Sfxn2 sideroflexin 2 ISO ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma ClinVar PMID:12068298 NCBI chr 1:245,447,014...245,459,312
Ensembl chr 1:245,447,015...245,468,411
Ensembl chr 1:245,447,015...245,468,411 		JBrowse link
G Sh3pxd2a SH3 and PX domains 2A ISO ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma ClinVar PMID:12068298 NCBI chr 1:246,153,660...246,359,806
Ensembl chr 1:246,160,502...246,360,166 		JBrowse link
G Slk STE20-like kinase ISO ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma ClinVar PMID:12068298 NCBI chr 1:246,473,712...246,529,643
Ensembl chr 1:246,473,712...246,526,530 		JBrowse link
G Sorcs3 sortilin-related VPS10 domain containing receptor 3 ISO ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma ClinVar PMID:12068298 NCBI chr 1:247,099,178...247,734,027
Ensembl chr 1:247,099,408...247,734,027 		JBrowse link
G Stn1 STN1 subunit of CST complex ISO ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma ClinVar PMID:12068298 NCBI chr 1:246,391,311...246,429,844
Ensembl chr 1:246,395,613...246,429,531 		JBrowse link
G Sufu SUFU negative regulator of hedgehog signaling ISO ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma ClinVar PMID:12068298 NCBI chr 1:245,257,725...245,355,576
Ensembl chr 1:245,257,768...245,355,577 		JBrowse link
G Taf5 TATA-box binding protein associated factor 5 ISO ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma ClinVar PMID:12068298 NCBI chr 1:245,958,428...245,973,914
Ensembl chr 1:245,958,428...245,973,914 		JBrowse link
G Trim8 tripartite motif-containing 8 ISO ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma ClinVar PMID:12068298 NCBI chr 1:245,369,632...245,384,513
Ensembl chr 1:245,369,632...245,384,513 		JBrowse link
G Wbp1l WW domain binding protein 1-like ISO ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma ClinVar PMID:12068298 NCBI chr 1:245,472,292...245,528,627
Ensembl chr 1:245,472,296...245,528,627 		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 member 1 ISS OMIM:106400 MouseDO NCBI chr 9:15,399,661...15,414,203
Ensembl chr 9:15,399,612...15,414,203 		JBrowse link
diffuse intrinsic pontine glioma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Brip1 BRCA1 interacting helicase 1 ISO ClinVar Annotator: match by term: Diffuse intrinsic pontine glioma ClinVar PMID:16116424 PMID:16116426 PMID:16973432 PMID:18510924 PMID:19099189 More... NCBI chr10:70,907,266...71,031,502
Ensembl chr10:70,907,371...71,030,324 		JBrowse link
G Nf1 neurofibromin 1 ISO ClinVar Annotator: match by term: Diffuse intrinsic pontine glioma ClinVar PMID:25741868 PMID:28492532 NCBI chr10:64,306,027...64,539,112
Ensembl chr10:64,306,301...64,536,658 		JBrowse link
diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alk ALK receptor tyrosine kinase ISO ClinVar Annotator: match by term: Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype ClinVar PMID:25741868 PMID:28492532 NCBI chr 6:22,879,653...23,599,636
Ensembl chr 6:22,880,625...23,598,034 		JBrowse link
G Brca2 BRCA2, DNA repair associated ISO ClinVar Annotator: match by term: Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr12:59,492...103,789
Ensembl chr12:59,819...100,567 		JBrowse link
G Cdk4 cyclin-dependent kinase 4 ISO ClinVar Annotator: match by term: Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype ClinVar PMID:25741868 PMID:28492532 NCBI chr 7:62,886,124...62,889,562
Ensembl chr 7:62,883,105...62,942,403 		JBrowse link
G Fanca FA complementation group A ISO ClinVar Annotator: match by term: Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype ClinVar PMID:25741868 NCBI chr19:51,304,126...51,362,586
Ensembl chr19:51,304,021...51,362,527 		JBrowse link
G Fgfr3 fibroblast growth factor receptor 3 ISO ClinVar Annotator: match by term: Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype ClinVar PMID:25741868 PMID:28492532 NCBI chr14:76,987,242...77,002,671
Ensembl chr14:76,987,993...77,003,341 		JBrowse link
G Idh1 isocitrate dehydrogenase (NADP(+)) 1 ISO ClinVar Annotator: match by term: Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype ClinVar PMID:25741868 NCBI chr 9:66,534,146...66,563,703
Ensembl chr 9:66,534,146...66,563,708 		JBrowse link
G Kdm5b lysine demethylase 5B ISO ClinVar Annotator: match by term: Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype ClinVar PMID:25741868 NCBI chr13:46,001,589...46,073,868
Ensembl chr13:46,002,542...46,073,872 		JBrowse link
G Nf1 neurofibromin 1 ISO ClinVar Annotator: match by term: Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype ClinVar PMID:25741868 PMID:26740943 PMID:28492532 PMID:29684080 PMID:31882575 NCBI chr10:64,306,027...64,539,112
Ensembl chr10:64,306,301...64,536,658 		JBrowse link
G Pms2 PMS1 homolog 2, mismatch repair system component ISO ClinVar Annotator: match by term: Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype ClinVar PMID:23435383 PMID:25741868 PMID:28492532 PMID:35451539 NCBI chr12:10,676,818...10,701,161
Ensembl chr12:10,676,764...10,701,066 		JBrowse link
G Ret ret proto-oncogene ISO ClinVar Annotator: match by term: Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype ClinVar PMID:22648184 PMID:25741868 PMID:28492532 PMID:28946813 PMID:31159747 More... NCBI chr 4:151,325,969...151,368,176
Ensembl chr 4:151,326,431...151,368,176 		JBrowse link
G Sdha succinate dehydrogenase complex flavoprotein subunit A ISO ClinVar Annotator: match by term: Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:28,935,965...28,960,936
Ensembl chr 1:28,940,164...28,961,535 		JBrowse link
G Tp53 tumor protein p53 ISO ClinVar Annotator: match by term: Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype ClinVar PMID:1349175 PMID:1565143 PMID:1565144 PMID:1631137 PMID:8401536 More... NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524 		JBrowse link
G Tspan31 tetraspanin 31 ISO ClinVar Annotator: match by term: Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype ClinVar PMID:25741868 PMID:28492532 NCBI chr 7:62,889,552...62,892,428
Ensembl chr 7:62,889,552...62,898,388 		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
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:12161821 PMID:12491225 PMID:12554689 PMID:16097008 PMID:16199547 More... NCBI chr18:68,605,131...68,900,905
Ensembl chr18:68,605,185...68,900,903 		JBrowse link
dysembryoplastic neuroepithelial tumor term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Braf B-Raf proto-oncogene, serine/threonine kinase ISO DNA:mutation:cds:p.V600E(human) RGD PMID:25346165 RGD:11567238 NCBI chr 4:68,375,484...68,510,652
Ensembl chr 4:68,384,649...68,510,463 		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 Aqp1 aquaporin 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss ClinVar PMID:28492532 NCBI chr 4:84,482,512...84,494,690
Ensembl chr 4:84,482,512...84,494,690 		JBrowse link
G Crhr2 corticotropin releasing hormone receptor 2 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss ClinVar PMID:28492532 NCBI chr 4:84,222,897...84,265,924
Ensembl chr 4:84,224,002...84,265,904 		JBrowse link
G Fkbp14 FKBP prolyl isomerase 14 ISO ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE, 2 | ClinVar Annotator: match by term: Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:22265013 PMID:24677762 More... NCBI chr 4:83,705,531...83,721,515
Ensembl chr 4:83,705,652...83,721,528 		JBrowse link
G Gars1 glycyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss ClinVar PMID:28492532 NCBI chr 4:84,171,596...84,212,609
Ensembl chr 4:84,171,596...84,212,609 		JBrowse link
G Ggct gamma-glutamyl cyclotransferase ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss ClinVar PMID:28492532 NCBI chr 4:84,122,921...84,129,327
Ensembl chr 4:84,123,118...84,129,277 		JBrowse link
G Ghrhr growth hormone releasing hormone receptor ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss ClinVar PMID:28492532 NCBI chr 4:84,498,159...84,532,851
Ensembl chr 4:84,500,212...84,532,776 		JBrowse link
G Inmt indolethylamine N-methyltransferase ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss ClinVar PMID:28492532 NCBI chr 4:84,318,197...84,322,493
Ensembl chr 4:84,318,197...84,322,493 		JBrowse link
G Mindy4 MINDY lysine 48 deubiquitinase 4 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss ClinVar PMID:28492532 NCBI chr 4:84,358,660...84,469,189
Ensembl chr 4:84,358,902...84,463,395 		JBrowse link
G Mturn maturin, neural progenitor differentiation regulator homolog ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss ClinVar PMID:28492532 NCBI chr 4:83,807,528...83,828,494
Ensembl chr 4:83,807,579...83,824,950 		JBrowse link
G Nod1 nucleotide-binding oligomerization domain containing 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss ClinVar PMID:28492532 NCBI chr 4:84,060,871...84,111,668
Ensembl chr 4:84,060,880...84,111,404 		JBrowse link
G Plekha8 pleckstrin homology domain containing A8 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss ClinVar PMID:28492532 NCBI chr 4:83,723,470...83,774,081
Ensembl chr 4:83,723,561...83,774,081 		JBrowse link
G Znrf2 zinc and ring finger 2 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss ClinVar PMID:28492532 NCBI chr 4:83,950,406...84,032,676
Ensembl chr 4:83,949,309...84,027,818 		JBrowse link
Ependymomas term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bcl7c BAF chromatin remodeling complex subunit BCL7C ISO CTD Direct Evidence: marker/mechanism CTD PMID:26075792 NCBI chr 1:182,277,163...182,324,274
Ensembl chr 1:182,260,164...182,324,163 		JBrowse link
G Ephb2 Eph receptor B2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26075792 NCBI chr 5:148,889,574...149,077,027
Ensembl chr 5:148,897,246...149,077,059 		JBrowse link
G Gdnf glial cell derived neurotrophic factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:19138852 NCBI chr 2:56,894,022...56,919,935
Ensembl chr 2:56,895,010...56,917,209 		JBrowse link
G Igf2 insulin-like growth factor 2 ISO mRNA:increased expression:cerebellum RGD PMID:18478565 RGD:5509961 NCBI chr 1:197,814,409...197,831,802
Ensembl chr 1:197,814,410...197,823,018 		JBrowse link
G Rab3a RAB3A, member RAS oncogene family ISO CTD Direct Evidence: marker/mechanism CTD PMID:26075792 NCBI chr16:18,684,185...18,688,297
Ensembl chr16:18,684,188...18,688,336 		JBrowse link
G Rtbdn retbindin ISO CTD Direct Evidence: marker/mechanism CTD PMID:26075792 NCBI chr19:23,197,506...23,205,544
Ensembl chr19:23,197,506...23,204,438 		JBrowse link
G Shc3 SHC adaptor protein 3 ISO DNA:amplification:brain: RGD PMID:19748727 RGD:13782069 NCBI chr17:13,652,247...13,772,710
Ensembl chr17:13,651,202...13,772,710 		JBrowse link
G Zfp668 zinc finger protein 668 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26075792 NCBI chr 1:182,474,633...182,484,957
Ensembl chr 1:182,474,633...182,492,878 		JBrowse link
Familial Horizontal Gaze Palsy with Progressive Scoliosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dcc DCC netrin 1 receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:28250456 NCBI chr18:64,868,987...65,972,783
Ensembl chr18:64,873,898...65,972,740 		JBrowse link
G Robo3 roundabout guidance receptor 3 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 8:37,133,542...37,151,674
Ensembl chr 8:37,133,916...37,151,315 		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 More... NCBI chr 8:37,133,542...37,151,674
Ensembl chr 8:37,133,916...37,151,315 		JBrowse link
Familial Horizontal Gaze Palsy with Progressive Scoliosis, 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dcc DCC netrin 1 receptor ISO ClinVar Annotator: match by term: GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS 2, WITH IMPAIRED INTELLECTUAL DEVELOPMENT | ClinVar Annotator: match by term: Gaze palsy, familial horizontal, with progressive scoliosis, 2 OMIM
ClinVar		 PMID:25741868 PMID:28250456 PMID:28492532 NCBI chr18:64,868,987...65,972,783
Ensembl chr18:64,873,898...65,972,740 		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
ClinVar Annotator: match by term: Hereditary retinoblastoma		 ClinVar
RGD		 PMID:7881418 PMID:8346255 PMID:8605116 PMID:8651278 PMID:9536098 More... RGD:8547984 NCBI chr15:48,371,295...48,502,473
Ensembl chr15:48,371,296...48,502,302 		JBrowse link
fibrillary astrocytoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kras KRAS proto-oncogene, GTPase ISO mRNA:decreased expression:brain RGD PMID:19179066 RGD:13702872 NCBI chr 4:178,185,418...178,218,484 JBrowse link
glioblastoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Actr3 actin related protein 3 ISO mRNA:increased expression:brain (human) RGD PMID:25682201 RGD:11570557 NCBI chr13:36,800,739...36,843,837
Ensembl chr13:36,800,093...36,844,124 		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 chr 7:106,404,827...106,476,902
Ensembl chr 7:106,404,958...106,476,902 		JBrowse link
G Adgrl4 adhesion G protein-coupled receptor L4 treatment
severity		 ISO
IEP		 RGD PMID:27416955 PMID:23096411 PMID:23096411 RGD:13838664, RGD:13838665, RGD:13838665 NCBI chr 2:240,354,909...240,457,231
Ensembl chr 2:240,354,941...240,457,225 		JBrowse link
G Akt1 AKT serine/threonine kinase 1 ISO RGD PMID:10802656 RGD:734543 NCBI chr 6:131,713,716...131,735,319
Ensembl chr 6:131,713,720...131,733,921 		JBrowse link
G Akt3 AKT serine/threonine kinase 3 disease_progression ISO RGD PMID:27422127 RGD:13674164 NCBI chr13:88,943,708...89,225,831
Ensembl chr13:88,946,091...89,225,708 		JBrowse link
G Apc APC regulator of WNT signaling pathway ISO CTD Direct Evidence: marker/mechanism CTD PMID:7661930 NCBI chr18:25,828,558...25,925,511
Ensembl chr18:25,864,222...25,922,696 		JBrowse link
G Arrb2 arrestin, beta 2 ameliorates ISO RGD PMID:34007068 RGD:401938608 NCBI chr10:55,146,887...55,154,854
Ensembl chr10:55,146,818...55,154,850 		JBrowse link
G Aspm assembly factor for spindle microtubules ISO mRNA:increased expression:brain: RGD PMID:18636190 RGD:13439742 NCBI chr13:51,074,849...51,123,755
Ensembl chr13:51,074,849...51,123,755 		JBrowse link
G Atm ATM serine/threonine kinase ISO ClinVar Annotator: match by term: Glioblastoma ClinVar PMID:9054948 PMID:19781682 PMID:23322442 PMID:23807571 PMID:25525159 More... NCBI chr 8:53,828,741...53,932,773
Ensembl chr 8:53,831,093...53,932,437 		JBrowse link
G Atrx ATRX, chromatin remodeler disease_progression ISO ClinVar Annotator: match by term: Glioblastoma multiforme, somatic ClinVar
RGD		 PMID:27478330 RGD:13442489 NCBI chr  X:70,850,981...70,997,330
Ensembl chr  X:70,850,981...70,997,330 		JBrowse link
G Bag3 BAG cochaperone 3 treatment IMP RGD PMID:21561597 RGD:5687132 NCBI chr 1:183,103,038...183,126,862
Ensembl chr 1:183,102,871...183,126,858 		JBrowse link
G Bche butyrylcholinesterase ISO CTD Direct Evidence: marker/mechanism CTD PMID:2317787 NCBI chr 2:158,308,674...158,401,148
Ensembl chr 2:158,307,584...158,401,148 		JBrowse link
G Becn1 beclin 1 disease_progression ISO RGD PMID:20863706 RGD:6483102 NCBI chr10:86,231,387...86,246,742
Ensembl chr10:86,231,388...86,246,742 		JBrowse link
G Bhlhe40 basic helix-loop-helix family, member e40 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23582323 NCBI chr 4:141,618,453...141,624,154
Ensembl chr 4:141,618,476...141,624,774 		JBrowse link
G Birc3 baculoviral IAP repeat-containing 3 exacerbates ISO mRNA:increased expression:brain (human) RGD PMID:31964418 RGD:153344516 NCBI chr 8:5,000,844...5,028,470
Ensembl chr 8:5,000,845...5,015,802 		JBrowse link
G Bmi1 BMI1 proto-oncogene, polycomb ring finger ISO CTD Direct Evidence: marker/mechanism CTD PMID:19823589 NCBI chr17:81,332,175...81,341,625
Ensembl chr17:81,332,214...81,388,690 		JBrowse link
G Braf B-Raf proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: Glioblastoma ClinVar PMID:12068308 PMID:12198537 PMID:12447372 PMID:12460918 PMID:12460919 More... NCBI chr 4:68,375,484...68,510,652
Ensembl chr 4:68,384,649...68,510,463 		JBrowse link
G Brd2 bromodomain containing 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27388964 NCBI chr20:4,727,078...4,735,389
Ensembl chr20:4,728,151...4,735,388 		JBrowse link
G Brd4 bromodomain containing 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26455392 PMID:27388964 NCBI chr 7:11,216,446...11,296,029
Ensembl chr 7:11,216,446...11,295,539 		JBrowse link
G Brd7 bromodomain containing 7 ISO protein:increased expression:brain: RGD PMID:24404152 RGD:9586441 NCBI chr19:18,708,792...18,737,497
Ensembl chr19:18,709,022...18,737,494 		JBrowse link
G C8h11orf65 similar to human chromosome 11 open reading frame 65 ISO ClinVar Annotator: match by term: Glioblastoma ClinVar PMID:9054948 PMID:19781682 PMID:23322442 PMID:23807571 PMID:25525159 More... NCBI chr 8:53,796,033...53,825,277
Ensembl chr 8:53,796,366...53,824,748 		JBrowse link
G Cbx6 chromobox 6 disease_progression ISO mRNA,protein:decreased expression:astrocyte: RGD PMID:24260522 RGD:9587354 NCBI chr 7:111,372,979...111,383,026
Ensembl chr 7:111,372,980...111,383,091 		JBrowse link
G Cbx7 chromobox 7 disease_progression ISO mRNA,protein:decreased expression:astrocyte: RGD PMID:24260522 RGD:9587354 NCBI chr 7:111,460,656...111,479,231
Ensembl chr 7:111,460,656...111,477,973 		JBrowse link
G Cbx8 chromobox 8 ISO mRNA:increased expression:astrocyte: RGD PMID:24260522 RGD:9587354 NCBI chr10:104,294,518...104,296,956
Ensembl chr10:104,294,518...104,297,024 		JBrowse link
G Ccnh cyclin H ISO CTD Direct Evidence: marker/mechanism CTD PMID:30705370 NCBI chr 2:15,835,064...15,855,648
Ensembl chr 2:15,834,833...15,855,819 		JBrowse link
G Cd9 CD9 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:26573230 NCBI chr 4:158,256,328...158,289,136
Ensembl chr 4:158,256,328...158,289,222 		JBrowse link
G Cdk4 cyclin-dependent kinase 4 ISO DNA:amplication RGD PMID:23796897 RGD:13702089 NCBI chr 7:62,886,124...62,889,562
Ensembl chr 7:62,883,105...62,942,403 		JBrowse link
G Cdk6 cyclin-dependent kinase 6 severity ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:20534551 PMID:10884881 RGD:13702095 NCBI chr 4:30,637,650...30,829,688
Ensembl chr 4:30,646,460...30,829,634 		JBrowse link
G Cdkn2a cyclin-dependent kinase inhibitor 2A treatment ISO RGD PMID:10720483 RGD:8552659 NCBI chr 5:103,984,949...103,992,143
Ensembl chr 5:103,984,949...104,003,149 		JBrowse link
G Cdkn2a_v1 cyclin-dependent kinase inhibitor 2A, variant 1 treatment ISO RGD PMID:10720483 RGD:8552659
G Chaf1b chromatin assembly factor 1 subunit B ISO protein:increased expression:brain: RGD PMID:24039914 RGD:9587472 NCBI chr11:33,200,894...33,221,076
Ensembl chr11:33,200,981...33,221,070 		JBrowse link
G Chi3l1 chitinase 3 like 1 ISO mRNA:increased expression:brain, tumor (human)
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:21029458 PMID:11161003 RGD:4892621 NCBI chr13:45,641,802...45,649,787
Ensembl chr13:45,641,802...45,649,787 		JBrowse link
G Cpe carboxypeptidase E disease_progression ISO mRNA, protein:decreased expression:brain tumor (human) RGD PMID:22249620 RGD:405650684 NCBI chr16:25,030,276...25,142,231
Ensembl chr16:25,030,276...25,142,233 		JBrowse link
G Cpeb1 cytoplasmic polyadenylation element binding protein 1 disease_progression IMP RGD PMID:23360795 RGD:9685152 NCBI chr 1:135,300,048...135,407,688
Ensembl chr 1:135,300,461...135,409,760 		JBrowse link
G Crebbp CREB binding protein ISO ClinVar Annotator: match by term: Glioblastoma ClinVar PMID:21390126 PMID:21680795 PMID:21796119 PMID:22832583 PMID:23334668 More... NCBI chr10:11,335,551...11,461,888
Ensembl chr10:11,335,953...11,461,888 		JBrowse link
G Csta cystatin A ISO CTD Direct Evidence: marker/mechanism CTD PMID:22287159 NCBI chr11:64,620,483...64,631,488
Ensembl chr11:64,620,483...64,631,488 		JBrowse link
G Cstb cystatin B ISO CTD Direct Evidence: marker/mechanism CTD PMID:22287159 NCBI chr20:10,245,462...10,247,505
Ensembl chr20:10,245,462...10,247,526 		JBrowse link
G Ctnnd2 catenin delta 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23917401 NCBI chr 2:81,168,525...82,016,495
Ensembl chr 2:81,167,117...82,015,764 		JBrowse link
G Ctsb cathepsin B ISO protein:increased expression:glioma cell (human)
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:22287159 PMID:17898873 RGD:2315515 NCBI chr15:37,389,636...37,410,508
Ensembl chr15:37,389,629...37,410,500 		JBrowse link
G Ctsh cathepsin H ISO protein:increased expression:brain RGD PMID:8640738 RGD:1549417 NCBI chr 8:90,608,941...90,627,824
Ensembl chr 8:90,608,941...90,627,824 		JBrowse link
G Ctsk cathepsin K ISO CTD Direct Evidence: marker/mechanism CTD PMID:25356585 NCBI chr 2:183,058,586...183,069,551
Ensembl chr 2:183,058,569...183,069,550 		JBrowse link
G Deup1 deuterosome assembly protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30705370 NCBI chr 8:12,380,300...12,442,649
Ensembl chr 8:12,380,302...12,442,199 		JBrowse link
G Dmbt1 deleted in malignant brain tumors 1 ISO DNA:deletion RGD PMID:9288095 RGD:1599778 NCBI chr 1:185,617,469...185,696,476
Ensembl chr 1:185,617,294...185,696,478 		JBrowse link
G Dnmt3a DNA methyltransferase 3 alpha ISO ClinVar Annotator: match by term: Glioblastoma ClinVar NCBI chr 6:26,791,517...26,902,161
Ensembl chr 6:26,822,609...26,896,687 		JBrowse link
G Dusp6 dual specificity phosphatase 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21499306 NCBI chr 7:34,092,848...34,097,186
Ensembl chr 7:34,092,943...34,097,185 		JBrowse link
G E2f1 E2F transcription factor 1 disease_progression ISO RGD PMID:16264179 RGD:13702471 NCBI chr 3:143,064,535...143,075,362
Ensembl chr 3:143,049,478...143,075,361 		JBrowse link
G Egf epidermal growth factor susceptibility ISO CTD Direct Evidence: marker/mechanism
DNA:polymorphism:promoter:+61A>G(human)		 CTD
RGD		 PMID:16598420 PMID:22481252 RGD:13702472 NCBI chr 2:218,219,408...218,302,359
Ensembl chr 2:218,219,415...218,302,064 		JBrowse link
G Egfr epidermal growth factor receptor ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Glioblastoma | ClinVar Annotator: match by term: Glioblastoma multiforme, somatic		 CTD
ClinVar		 PMID:2302402 PMID:15118073 PMID:15118125 PMID:15329413 PMID:15710947 More... NCBI chr14:91,176,979...91,349,722
Ensembl chr14:91,177,067...91,344,382 		JBrowse link
G Enpp1 ectonucleotide pyrophosphatase/phosphodiesterase 1 severity ISO protein:increased expression:brain (human) RGD PMID:21195542 RGD:13204719 NCBI chr 1:20,698,746...20,763,741
Ensembl chr 1:20,698,764...20,763,715 		JBrowse link
G Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit treatment ISO RGD PMID:25595591 RGD:14928319 NCBI chr 4:76,624,399...76,687,362
Ensembl chr 4:76,624,399...76,687,362 		JBrowse link
G Fabp7 fatty acid binding protein 7 severity ISO mRNA, protein:increased expression:brain (human) RGD PMID:15827123 RGD:1578468 NCBI chr20:37,123,193...37,126,725
Ensembl chr20:37,123,193...37,126,880 		JBrowse link
G Fam83d family with sequence similarity 83, member D ISO CTD Direct Evidence: marker/mechanism CTD PMID:35150198 NCBI chr 3:147,421,941...147,441,211
Ensembl chr 3:147,421,908...147,441,192 		JBrowse link
G Fat1 FAT atypical cadherin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23354438 NCBI chr16:47,177,253...47,296,261
Ensembl chr16:47,177,248...47,296,107 		JBrowse link
G Fbxw7 F-box and WD repeat domain containing 7 ISO ClinVar Annotator: match by term: Glioblastoma ClinVar PMID:26619011 NCBI chr 2:170,149,706...170,311,536
Ensembl chr 2:170,149,694...170,309,941 		JBrowse link
G Fgfr1 Fibroblast growth factor receptor 1 ISO ClinVar Annotator: match by term: Glioblastoma ClinVar PMID:25705862 PMID:26619011 PMID:26942290 PMID:33448156 NCBI chr16:66,491,930...66,547,161
Ensembl chr16:66,494,042...66,547,350 		JBrowse link
G Flt3lg Fms related receptor tyrosine kinase 3 ligand treatment ISO RGD PMID:18079358 RGD:11049502 NCBI chr 1:95,615,056...95,620,463
Ensembl chr 1:95,609,370...95,620,463 		JBrowse link
G Fn1 fibronectin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17099729 NCBI chr 9:73,196,044...73,264,695
Ensembl chr 9:73,196,044...73,264,678 		JBrowse link
G Fosl2 FOS like 2, AP-1 transcription factor subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:23582323 NCBI chr 6:24,297,898...24,319,219
Ensembl chr 6:24,300,956...24,320,034 		JBrowse link
G Fxn frataxin ISO RGD PMID:21863062 RGD:401793715 NCBI chr 1:221,874,007...221,897,543
Ensembl chr 1:221,872,420...221,897,540 		JBrowse link
G Gdnf glial cell derived neurotrophic factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:19138852 NCBI chr 2:56,894,022...56,919,935
Ensembl chr 2:56,895,010...56,917,209 		JBrowse link
G Grik2 glutamate ionotropic receptor kainate type subunit 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30705370 NCBI chr20:52,135,325...52,833,061
Ensembl chr20:52,133,851...52,838,375 		JBrowse link
G Gstt1 glutathione S-transferase theta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16874663 NCBI chr20:12,856,613...12,873,586
Ensembl chr20:12,856,669...12,873,585 		JBrowse link
G H2ax H2A.X variant histone ISO CTD Direct Evidence: marker/mechanism CTD PMID:26651356 NCBI chr 8:44,671,907...44,673,262
Ensembl chr 8:44,671,786...44,673,239 		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 chr13:92,533,289...92,544,902
Ensembl chr13:92,533,298...92,544,908 		JBrowse link
G Heatr1 HEAT repeat containing 1 ISO mRNA, protein:increased expression:brain RGD PMID:25126583 RGD:10761721 NCBI chr17:58,053,288...58,093,895
Ensembl chr17:58,051,700...58,093,948 		JBrowse link
G Hes1 hes family bHLH transcription factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21127729 NCBI chr11:70,705,763...70,708,176
Ensembl chr11:70,705,764...70,708,192 		JBrowse link
G Hey1 hes-related family bHLH transcription factor with YRPW motif 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21127729 NCBI chr 2:93,096,605...93,100,316
Ensembl chr 2:93,095,498...93,100,312 		JBrowse link
G Hif1a hypoxia inducible factor 1 subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:12811834 NCBI chr 6:92,624,059...92,669,262
Ensembl chr 6:92,624,390...92,669,261 		JBrowse link
G Hoxd10 homeo box D10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:34737577 NCBI chr 3:59,594,516...59,597,725
Ensembl chr 3:59,594,516...59,597,725 		JBrowse link
G Hras HRas proto-oncogene, GTPase severity ISO DNA:missense mutation:cds:p.G61L(human)
ClinVar Annotator: match by term: Glioblastoma		 ClinVar
RGD		 PMID:11150980 PMID:16155195 PMID:16170316 PMID:16329078 PMID:16372351 More... RGD:13702475, RGD:13702872 NCBI chr 1:196,290,127...196,299,823
Ensembl chr 1:196,296,263...196,300,615 		JBrowse link
G Idh1 isocitrate dehydrogenase (NADP(+)) 1 disease_progression
onset		 ISO DNA:mutation:cds:p.R132(human)
ClinVar Annotator: match by term: Glioblastoma | ClinVar Annotator: match by term: Glioblastoma, somatic
DNA:mutation:cds:p.R132H(human)		 ClinVar
RGD		 PMID:18772396 PMID:19657110 PMID:19798509 PMID:19818334 PMID:20946881 More... RGD:11074562, RGD:11522732 NCBI chr 9:66,534,146...66,563,703
Ensembl chr 9:66,534,146...66,563,708 		JBrowse link
G Il16 interleukin 16 IEP protein:increased expression:brain RGD PMID:17221335 RGD:5024941 NCBI chr 1:137,617,702...137,718,022
Ensembl chr 1:137,617,944...137,718,130 		JBrowse link
G Il1b interleukin 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:16356833 NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415 		JBrowse link
G Il2 interleukin 2 ISO CTD Direct Evidence: therapeutic CTD PMID:7719933 NCBI chr 2:120,004,862...120,009,566
Ensembl chr 2:120,004,862...120,009,566 		JBrowse link
G Jag1 jagged canonical Notch ligand 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21127729 NCBI chr 3:124,406,783...124,442,220
Ensembl chr 3:124,406,794...124,442,209 		JBrowse link
G Jag2 jagged canonical Notch ligand 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21127729 NCBI chr 6:131,983,059...132,005,665
Ensembl chr 6:131,983,056...132,005,818 		JBrowse link
G Kcnc2 potassium voltage-gated channel subfamily C member 2 ISO mRNA:splice variant (human) RGD PMID:18474104 RGD:9686067 NCBI chr 7:47,700,035...47,883,979
Ensembl chr 7:47,700,288...47,883,968 		JBrowse link
G Kdr kinase insert domain receptor treatment ISO RGD PMID:26325365 RGD:11529678 NCBI chr14:32,217,871...32,261,018
Ensembl chr14:32,217,871...32,261,018 		JBrowse link
G Kras KRAS proto-oncogene, GTPase treatment ISO mRNA:decreased expression:brain RGD PMID:16166301 PMID:19179066 RGD:13702861, RGD:13702872 NCBI chr 4:178,185,418...178,218,484 JBrowse link
G L1cam L1 cell adhesion molecule ISO mRNA:decreased expression:brain, temporal lobe (human) RGD PMID:20419098 RGD:6483067 NCBI chr  X:151,597,270...151,623,776
Ensembl chr  X:151,597,277...151,623,857 		JBrowse link
G Lrrc56 leucine rich repeat containing 56 ISO ClinVar Annotator: match by term: Glioblastoma ClinVar PMID:11150980 PMID:16155195 PMID:16170316 PMID:16329078 PMID:16372351 More... NCBI chr 1:196,299,843...196,315,170
Ensembl chr 1:196,299,846...196,315,172 		JBrowse link
G Lrrc59 leucine rich repeat containing 59 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30705370 NCBI chr10:79,572,295...79,586,953
Ensembl chr10:79,572,317...79,602,533 		JBrowse link
G Ltbp4 latent transforming growth factor beta binding protein 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27270107 NCBI chr 1:82,600,136...82,634,346
Ensembl chr 1:82,600,136...82,632,178 		JBrowse link
G Lztr1 leucine zipper like post translational regulator 1 ISO CTD Direct Evidence: marker/mechanism
DNA:mutations:multiple (human)		 CTD
RGD		 PMID:23917401 PMID:23917401 RGD:151708722 NCBI chr11:83,487,717...83,503,896
Ensembl chr11:83,487,717...83,503,633 		JBrowse link
G Macir macrophage immunometabolism regulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:30705370 NCBI chr 9:98,420,760...98,440,818
Ensembl chr 9:98,420,376...98,441,733 		JBrowse link
G Map1lc3a microtubule-associated protein 1 light chain 3 alpha treatment ISO RGD PMID:24905460 RGD:11561946 NCBI chr 3:143,783,024...143,784,670
Ensembl chr 3:143,783,024...143,784,670 		JBrowse link
G Map2k2 mitogen activated protein kinase kinase 2 treatment ISO RGD PMID:26189368 RGD:13702862 NCBI chr 7:8,590,729...8,610,279
Ensembl chr 7:8,580,905...8,610,243 		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 chr10:45,608,145...45,629,492
Ensembl chr10:45,607,163...45,629,492 		JBrowse link
G Mdm2 MDM2 proto-oncogene ISO DNA:amplication RGD PMID:23796897 RGD:13702089 NCBI chr 7:53,290,660...53,315,205
Ensembl chr 7:53,290,664...53,314,915 		JBrowse link
G Mdm4 MDM4 regulator of p53 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20472715 NCBI chr13:44,432,596...44,516,165
Ensembl chr13:44,406,213...44,474,226 		JBrowse link
G Med12 mediator complex subunit 12 ISO ClinVar Annotator: match by term: Glioblastoma ClinVar PMID:26822237 NCBI chr  X:66,404,807...66,427,775
Ensembl chr  X:66,404,760...66,428,387 		JBrowse link
G Met MET proto-oncogene, receptor tyrosine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:22162573 NCBI chr 4:45,790,456...45,898,139
Ensembl chr 4:45,790,791...45,897,876 		JBrowse link
G Mgmt O-6-methylguanine-DNA methyltransferase ISO DNA:transition:cds:p.L84F (human)
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:20131314 PMID:22162573 PMID:14669534 RGD:2317667 NCBI chr 1:191,710,980...191,937,760
Ensembl chr 1:191,710,930...191,937,756 		JBrowse link
G Mir21 microRNA 21 ameliorates IMP RGD PMID:31730913 RGD:41404645 NCBI chr10:71,405,257...71,405,348
Ensembl chr10:71,405,257...71,405,348 		JBrowse link
G Mir31 microRNA 31 ISO RNA:decreased expression:brain (human) RGD PMID:22089331 RGD:152998941 NCBI chr 5:103,599,038...103,599,143 JBrowse link
G Mmp2 matrix metallopeptidase 2 severity ISO protein:increased expression:brain (human)
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:16598420 PMID:7616276 RGD:7207145 NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870 		JBrowse link
G Mmp7 matrix metallopeptidase 7 severity ISO protein:increased expression:brain (human) RGD PMID:7616276 RGD:7207145 NCBI chr 8:4,848,186...4,855,908
Ensembl chr 8:4,848,186...4,855,902 		JBrowse link
G Mmp9 matrix metallopeptidase 9 severity
treatment		 ISO protein:increased expression:brain (human)
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:16598420 PMID:7616276 PMID:12439751 RGD:7207145, RGD:8547973 NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120 		JBrowse link
G Msh2 mutS homolog 2 ISO ClinVar Annotator: match by term: Glioblastoma ClinVar PMID:25741868 NCBI chr 6:6,813,793...6,872,960
Ensembl chr 6:6,813,795...6,872,938 		JBrowse link
G Mtor mechanistic target of rapamycin kinase ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Glioblastoma		 CTD
ClinVar		 PMID:20190810 PMID:22729223 PMID:24631838 PMID:25599672 PMID:25741868 More... NCBI chr 5:158,884,856...158,994,311
Ensembl chr 5:158,884,804...158,994,311 		JBrowse link
G Myc MYC proto-oncogene, bHLH transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:21127729 NCBI chr 7:93,593,705...93,598,633
Ensembl chr 7:93,593,705...93,598,630 		JBrowse link
G Mycn MYCN proto-oncogene, bHLH transcription factor ISO ClinVar Annotator: match by term: Glioblastoma ClinVar PMID:26619011 NCBI chr 6:35,717,764...35,723,590
Ensembl chr 6:35,717,764...35,723,590 		JBrowse link
G Ncor1 nuclear receptor co-repressor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17312396 NCBI chr10:46,999,536...47,142,294
Ensembl chr10:46,999,536...47,141,032 		JBrowse link
G Ndrg1 N-myc downstream regulated 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15341671 NCBI chr 7:98,684,487...98,725,869
Ensembl chr 7:98,684,487...98,725,880 		JBrowse link
G Ndrg4 NDRG family member 4 ISO mRNA, protein:decreased expression:brain RGD PMID:22489821 RGD:7247726 NCBI chr19:9,351,408...9,387,398
Ensembl chr19:9,351,404...9,386,914 		JBrowse link
G Nf1 neurofibromin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25119042 NCBI chr10:64,306,027...64,539,112
Ensembl chr10:64,306,301...64,536,658 		JBrowse link
G Nfkbia NFKB inhibitor alpha treatment ISO human cell line in a mouse model RGD PMID:15692608 RGD:127285387 NCBI chr 6:72,858,713...72,861,941
Ensembl chr 6:72,858,712...72,861,941 		JBrowse link
G Notch1 notch receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21127729 NCBI chr 3:9,277,955...9,323,531
Ensembl chr 3:9,278,086...9,323,531 		JBrowse link
G Notch2 notch receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21127729 NCBI chr 2:185,610,594...185,744,088
Ensembl chr 2:185,610,589...185,744,088 		JBrowse link
G Notch3 notch receptor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21127729 NCBI chr 7:11,132,984...11,184,025
Ensembl chr 7:11,133,706...11,184,025 		JBrowse link
G Nras NRAS proto-oncogene, GTPase ISO DNA:mutation:cds:c.35G>A, p.G12D(human)
ClinVar Annotator: match by term: Glioblastoma
DNA:amplication::		 ClinVar
RGD		 PMID:1654209 PMID:2278970 PMID:2674680 PMID:3122217 PMID:6587382 More... RGD:13702875, RGD:13702876 NCBI chr 2:190,582,885...190,593,509
Ensembl chr 2:190,582,918...190,591,626 		JBrowse link
G Pdgfb platelet derived growth factor subunit B ISO RGD PMID:21210235 RGD:6482799 NCBI chr 7:111,539,444...111,557,984
Ensembl chr 7:111,540,345...111,557,984 		JBrowse link
G Pdgfrb platelet derived growth factor receptor beta treatment ISO RGD PMID:24566984 RGD:13702903 NCBI chr18:54,499,962...54,538,840
Ensembl chr18:54,499,964...54,538,843 		JBrowse link
G Pdpn podoplanin ISO RGD PMID:16979138 RGD:2292241 NCBI chr 5:155,601,691...155,635,656
Ensembl chr 5:155,601,691...155,635,656 		JBrowse link
G Pecam1 platelet and endothelial cell adhesion molecule 1 ISO RGD PMID:21858729 RGD:6771207 NCBI chr10:91,590,521...91,652,279
Ensembl chr10:91,590,521...91,652,116 		JBrowse link
G Pgf placental growth factor disease_progression ISO RGD PMID:20458050 RGD:6483585 NCBI chr 6:104,816,102...104,826,685
Ensembl chr 6:104,816,104...104,826,685 		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 ClinVar PMID:15016963 PMID:15254419 PMID:15520168 PMID:15608678 PMID:15647370 More... NCBI chr 2:115,175,275...115,249,034
Ensembl chr 2:115,174,984...115,249,032 		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 8:99,594,600...99,699,772
Ensembl chr 8:99,594,644...99,699,663 		JBrowse link
G Pik3cd phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta disease_progression ISO RGD PMID:24523440 RGD:13782051 NCBI chr 5:160,094,952...160,142,962
Ensembl chr 5:160,094,952...160,120,930 		JBrowse link
G Pik3r1 phosphoinositide-3-kinase regulatory subunit 1 ISO ClinVar Annotator: match by term: Glioblastoma ClinVar PMID:19962457 PMID:25157968 PMID:26619011 NCBI chr 2:32,878,942...32,963,668
Ensembl chr 2:32,882,032...32,963,631 		JBrowse link
G Pim1 Pim-1 proto-oncogene, serine/threonine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:23724780 NCBI chr20:7,554,921...7,559,174
Ensembl chr20:7,554,921...7,559,174 		JBrowse link
G Pml PML nuclear body scaffold ISO CTD Direct Evidence: marker/mechanism CTD PMID:23440206 NCBI chr 8:58,627,347...58,661,927
Ensembl chr 8:58,628,837...58,658,971 		JBrowse link
G Pole DNA polymerase epsilon, catalytic subunit ISO ClinVar Annotator: match by term: Glioblastoma ClinVar PMID:25228659 PMID:26619011 PMID:27573199 PMID:28492532 PMID:29352080 NCBI chr12:46,345,420...46,393,984
Ensembl chr12:46,345,420...46,393,939 		JBrowse link
G Polk DNA polymerase kappa ISO CTD Direct Evidence: marker/mechanism CTD PMID:26651356 NCBI chr 2:27,822,228...27,882,331
Ensembl chr 2:27,822,679...27,882,313 		JBrowse link
G Pot1 protection of telomeres 1 ISO ClinVar Annotator: match by term: Glioblastoma, somatic ClinVar PMID:28492532 NCBI chr 4:54,205,330...54,263,137
Ensembl chr 4:54,205,332...54,263,042 		JBrowse link
G Pparg peroxisome proliferator-activated receptor gamma ISO ClinVar Annotator: match by term: Glioblastoma, somatic ClinVar PMID:9467001 PMID:10381354 PMID:10523018 PMID:10690291 PMID:10851250 More... NCBI chr 4:148,423,102...148,548,471
Ensembl chr 4:148,423,194...148,548,468 		JBrowse link
G Prkn parkin RBR E3 ubiquitin protein ligase ISO CTD Direct Evidence: marker/mechanism CTD PMID:19946270 NCBI chr 1:48,688,651...49,882,520
Ensembl chr 1:48,690,556...49,882,555 		JBrowse link
G Prom1 prominin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18679414 PMID:18829568 PMID:19718438 NCBI chr14:66,989,545...67,094,534
Ensembl chr14:66,990,160...67,094,527 		JBrowse link
G Pten phosphatase and tensin homolog ISO ClinVar Annotator: match by term: Glioblastoma ClinVar
RGD		 PMID:1336932 PMID:1945792 PMID:9140396 PMID:9241266 PMID:9259288 More... RGD:2290476 NCBI chr 1:230,630,443...230,697,070
Ensembl chr 1:230,630,338...230,696,838 		JBrowse link
G Ptgs1 prostaglandin-endoperoxide synthase 1 disease_progression ISO
IEP		 protein:increased expression:microglia, macrophage, RGD PMID:11121536 PMID:10229132 RGD:5688245, RGD:5688250 NCBI chr 3:19,584,015...19,605,589
Ensembl chr 3:19,584,015...19,605,586 		JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 disease_progression ISO
IEP		 protein:increased expression:endothelial cell RGD PMID:11121536 PMID:10229132 RGD:5688245, RGD:5688250 NCBI chr13:62,163,936...62,172,193
Ensembl chr13:62,163,932...62,172,188 		JBrowse link
G Ptk2 protein tyrosine kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12811834 NCBI chr 7:105,126,725...105,331,848
Ensembl chr 7:105,126,728...105,331,783 		JBrowse link
G Ptn pleiotrophin ISO protein:increased expression:brain (human) RGD PMID:14692702 RGD:151660507 NCBI chr 4:65,293,731...65,375,572
Ensembl chr 4:65,293,734...65,375,456 		JBrowse link
G Ptprb protein tyrosine phosphatase, receptor type, B treatment ISO human cells in mouse model
protein:increased expression:brain (human)		 RGD PMID:16489031 PMID:15831233 PMID:14692702 RGD:151660504, RGD:151664746, RGD:151660507 NCBI chr 7:51,953,375...52,034,751
Ensembl chr 7:51,930,015...52,034,748 		JBrowse link
G Rb1 RB transcriptional corepressor 1 severity ISO DNA:hypermethylation:promoter: RGD PMID:11204276 RGD:13782067 NCBI chr15:48,371,295...48,502,473
Ensembl chr15:48,371,296...48,502,302 		JBrowse link
G Reck reversion-inducing-cysteine-rich protein with kazal motifs ISO CTD Direct Evidence: therapeutic CTD PMID:20127710 NCBI chr 5:58,102,961...58,169,516
Ensembl chr 5:58,102,981...58,169,502 		JBrowse link
G Rpl35a ribosomal protein L35A ISO mRNA:increased expression:brain (human) RGD PMID:10880769 RGD:11535077 NCBI chr11:67,726,031...67,729,953
Ensembl chr11:67,726,032...67,729,942
Ensembl chr 5:67,726,032...67,729,942 		JBrowse link
G Rpl5 ribosomal protein L5 ISO DNA:mutations:multiple (human) RGD PMID:26892688 RGD:11535147 NCBI chr14:1,843,856...1,850,301
Ensembl chr14:1,843,770...1,850,290 		JBrowse link
G Runx1 RUNX family transcription factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23582323 NCBI chr11:31,839,880...32,074,427
Ensembl chr11:31,843,764...32,074,542 		JBrowse link
G Runx3 RUNX family transcription factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16909125 NCBI chr 5:147,360,587...147,419,161
Ensembl chr 5:147,360,994...147,419,156 		JBrowse link
G Septin14 septin 14 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23917401 NCBI chr12:26,975,283...27,005,588
Ensembl chr12:26,975,344...26,998,299 		JBrowse link
G Serping1 serpin family G member 1 treatment IMP RGD PMID:28880870 RGD:13525003 NCBI chr 3:69,842,726...69,852,583
Ensembl chr 3:69,842,739...69,852,034 		JBrowse link
G Slc22a22 solute carrier family 22 member 22 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30705370 NCBI chr 7:88,720,425...88,750,111
Ensembl chr 7:88,720,427...88,750,111 		JBrowse link
G Slc7a5 solute carrier family 7 member 5 disease_progression ISO RGD PMID:16496379 RGD:151361115 NCBI chr19:49,935,220...49,963,823
Ensembl chr19:49,935,220...49,963,823 		JBrowse link
G Slx4 SLX4 structure-specific endonuclease subunit ISO ClinVar Annotator: match by term: Glioblastoma multiforme ClinVar PMID:25741868 NCBI chr10:11,526,623...11,549,313
Ensembl chr10:11,528,424...11,549,295 		JBrowse link
G Srrt serrate, RNA effector molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:30542699 NCBI chr12:19,392,578...19,406,098
Ensembl chr12:19,392,625...19,406,095 		JBrowse link
G Stat3 signal transducer and activator of transcription 3 disease_progression ISO mRNA, protein:increased expression:brain (human) RGD PMID:31783691 RGD:151667907 NCBI chr10:85,811,206...85,863,057
Ensembl chr10:85,811,218...85,863,057 		JBrowse link
G Stat5a signal transducer and activator of transcription 5A disease_progression
treatment		 ISO mRNA, protein:increased expression:brain (human)
human cells in mouse model		 RGD PMID:31783691 PMID:31783691 RGD:151667907, RGD:151667907 NCBI chr10:85,785,537...85,809,869
Ensembl chr10:85,785,537...85,809,866 		JBrowse link
G Suz12 SUZ12 polycomb repressive complex 2 subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:25119042 NCBI chr10:64,967,035...65,012,916
Ensembl chr10:64,966,967...65,012,738 		JBrowse link
G Tes testin LIM domain protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:16909125 NCBI chr 4:45,365,304...45,403,829
Ensembl chr 4:45,365,285...45,403,829 		JBrowse link
G Tgm2 transglutaminase 2 ISO CTD Direct Evidence: marker/mechanism|therapeutic CTD PMID:16170020 PMID:17099729 NCBI chr 3:146,772,684...146,801,924
Ensembl chr 3:146,772,687...146,801,981 		JBrowse link
G Tmem135 transmembrane protein 135 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30705370 NCBI chr 1:143,006,343...143,279,824
Ensembl chr 1:143,006,344...143,221,171 		JBrowse link
G Tnc tenascin C ISO RGD PMID:16928692 RGD:4889612 NCBI chr 5:77,375,851...77,460,712
Ensembl chr 5:77,375,851...77,460,624 		JBrowse link
G Tnfsf10 TNF superfamily member 10 ISO CTD Direct Evidence: therapeutic CTD PMID:21877938 NCBI chr 2:110,199,835...110,227,239
Ensembl chr 2:110,207,916...110,225,135 		JBrowse link
G Tp53 tumor protein p53 ISS
ISO		 ClinVar Annotator: match by term: Glioblastoma | ClinVar Annotator: match by term: Glioblastoma, somatic MouseDO
ClinVar		 PMID:253702 PMID:960674 PMID:1349175 PMID:1359493 PMID:1467311 More... NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524 		JBrowse link
G Tp53bp1 tumor protein p53 binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30705370 NCBI chr 3:108,166,574...108,270,229
Ensembl chr 3:108,169,980...108,269,822 		JBrowse link
G Trmt11 tRNA methyltransferase 11 homolog ISO CTD Direct Evidence: marker/mechanism CTD PMID:30705370 NCBI chr 1:27,054,437...27,109,765
Ensembl chr 1:27,054,420...27,201,610 		JBrowse link
G Vegfa vascular endothelial growth factor A ISO CTD Direct Evidence: marker/mechanism CTD PMID:16356833 NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641 		JBrowse link
G Wt1 WT1 transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:20820871 NCBI chr 3:91,566,540...91,613,653
Ensembl chr 3:91,567,001...91,613,643 		JBrowse link
G Xrcc1 X-ray repair cross complementing 1 susceptibility ISO DNA:SNP:exon 10: p.R399Q (human) RGD PMID:18330515 RGD:401827274 NCBI chr 1:80,140,495...80,168,705
Ensembl chr 1:80,141,207...80,168,701 		JBrowse link
G Zbtb7a zinc finger and BTB domain containing 7a ISO CTD Direct Evidence: marker/mechanism CTD PMID:25875864 NCBI chr 7:8,561,015...8,578,243
Ensembl chr 7:8,563,779...8,576,539 		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 chr15:48,371,295...48,502,473
Ensembl chr15:48,371,296...48,502,302 		JBrowse link
gliosarcoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccl2 C-C motif chemokine ligand 2 severity ISO mouse gene in a rat model RGD PMID:7489565 RGD:11526112 NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226 		JBrowse link
G Cyp2b3 cytochrome P450, family 2, subfamily b, polypeptide 3 ISO CTD Direct Evidence: therapeutic CTD PMID:9766669 PMID:11389073 NCBI chr 1:81,652,762...81,732,153
Ensembl chr 1:81,652,787...81,732,143 		JBrowse link
G Cyp2c11 cytochrome P450, subfamily 2, polypeptide 11 ISO CTD Direct Evidence: therapeutic CTD PMID:9766669 NCBI chr 1:236,762,719...236,799,069
Ensembl chr 1:236,762,842...236,799,066 		JBrowse link
G Plau plasminogen activator, urokinase severity ISO mouse gene in rat model RGD PMID:20606645 RGD:7241591 NCBI chr15:3,456,230...3,462,732
Ensembl chr15:3,456,232...3,462,775 		JBrowse link
G Por cytochrome p450 oxidoreductase ISO CTD Direct Evidence: therapeutic CTD PMID:9766669 NCBI chr12:20,951,058...20,999,198
Ensembl chr12:20,951,058...20,999,245 		JBrowse link
G Ptgs1 prostaglandin-endoperoxide synthase 1 IEP protein:increased expression:microglia, macrophage, RGD PMID:10229132 RGD:5688250 NCBI chr 3:19,584,015...19,605,589
Ensembl chr 3:19,584,015...19,605,586 		JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 IEP protein:increased expression:endothelial cell RGD PMID:10229132 RGD:5688250 NCBI chr13:62,163,936...62,172,193
Ensembl chr13:62,163,932...62,172,188 		JBrowse link
G Vegfa vascular endothelial growth factor A ISO CTD Direct Evidence: marker/mechanism CTD PMID:16533777 NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641 		JBrowse link
high grade 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: Malignant ependymoma ClinVar PMID:21285249 PMID:25085752 PMID:25741868 PMID:26315354 PMID:26467025 More... NCBI chr 1:176,665,076...176,689,053
Ensembl chr 1:176,665,076...176,688,990 		JBrowse link
G Runx1 RUNX family transcription factor 1 ISO ClinVar Annotator: match by term: Malignant ependymoma ClinVar PMID:23753029 PMID:25741868 PMID:26580448 PMID:28492532 PMID:28801348 More... NCBI chr11:31,839,880...32,074,427
Ensembl chr11:31,843,764...32,074,542 		JBrowse link
high grade glioma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcb1b ATP-binding cassette, sub-family B member 1B IDA RGD PMID:16574265 RGD:1598564 NCBI chr 4:25,242,761...25,325,194
Ensembl chr 4:25,242,798...25,325,199 		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 More... NCBI chr 3:42,978,558...43,097,892
Ensembl chr 3:42,978,561...43,098,241 		JBrowse link
G Adgra2 adhesion G protein-coupled receptor A2 ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr16:64,932,964...64,971,433
Ensembl chr16:64,933,315...64,971,483 		JBrowse link
G Akt2 AKT serine/threonine kinase 2 ISO
IDA		 protein:increased expression:cytoplasm (human) RGD PMID:19330838 PMID:19330838 RGD:2313297, RGD:2313297 NCBI chr 1:82,877,228...82,933,828
Ensembl chr 1:82,883,547...82,933,817 		JBrowse link
G Amotl1 angiomotin-like 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:34480788 NCBI chr 8:11,348,651...11,467,564
Ensembl chr 8:11,353,674...11,467,573 		JBrowse link
G Angpt2 angiopoietin 2 IEP protein:increased expression:brain (rat) RGD PMID:18615861 RGD:2314189 NCBI chr16:71,088,364...71,138,805
Ensembl chr16:71,088,364...71,138,804 		JBrowse link
G Apod apolipoprotein D ISO CTD Direct Evidence: marker/mechanism CTD PMID:16865689 NCBI chr11:69,431,261...69,452,306
Ensembl chr11:69,431,260...69,452,305 		JBrowse link
G Araf A-Raf proto-oncogene, serine/threonine kinase disease_progression ISO RGD PMID:27852048 RGD:13702476 NCBI chr  X:1,227,392...1,292,356
Ensembl chr  X:1,227,392...1,239,073 		JBrowse link
G Areg amphiregulin IMP RGD PMID:8621257 RGD:2292668 NCBI chr14:16,972,185...16,981,443
Ensembl chr14:16,972,187...16,981,535 		JBrowse link
G Arhgap32 Rho GTPase activating protein 32 ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr 8:30,421,269...30,681,653
Ensembl chr 8:30,421,515...30,678,454 		JBrowse link
G Arid1b AT-rich interaction domain 1B ISO ClinVar Annotator: match by term: Astrocytoma ClinVar PMID:25741868 NCBI chr 1:45,567,991...45,923,644
Ensembl chr 1:45,563,623...45,923,493 		JBrowse link
G Arl2 ADP-ribosylation factor like GTPase 2 ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr 1:203,434,129...203,446,156
Ensembl chr 1:203,434,129...203,446,119 		JBrowse link
G Aspm assembly factor for spindle microtubules disease_progression ISO mRNA:increased expression:brain: RGD PMID:20142996 RGD:13442488 NCBI chr13:51,074,849...51,123,755
Ensembl chr13:51,074,849...51,123,755 		JBrowse link
G Atf5 activating transcription factor 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28861715 NCBI chr 1:95,295,602...95,299,755
Ensembl chr 1:95,295,610...95,299,707 		JBrowse link
G Atg2a autophagy related 2A ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr 1:203,542,559...203,562,242
Ensembl chr 1:203,542,559...203,562,242 		JBrowse link
G Atg7 autophagy related 7 treatment IDA RGD PMID:25542083 RGD:11557994 NCBI chr 4:147,718,663...147,925,656
Ensembl chr 4:147,718,752...147,925,593 		JBrowse link
G Atm ATM serine/threonine kinase ISO ClinVar Annotator: match by term: Malignant glioma ClinVar PMID:8659541 PMID:8808599 PMID:9000145 PMID:9463314 PMID:10330348 More... NCBI chr 8:53,828,741...53,932,773
Ensembl chr 8:53,831,093...53,932,437 		JBrowse link
G Atp1b2 ATPase Na+/K+ transporting subunit beta 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16865689 NCBI chr10:54,318,698...54,324,933
Ensembl chr10:54,318,701...54,324,933 		JBrowse link
G Atrx ATRX, chromatin remodeler ISO DNA:mutations: :multiple
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:23583981 PMID:24705251 PMID:23104868 RGD:11040587 NCBI chr  X:70,850,981...70,997,330
Ensembl chr  X:70,850,981...70,997,330 		JBrowse link
G Bad BCL2-associated agonist of cell death IEP
ISO		 protein:increased phosphorylation:brain (rat)
ClinVar Annotator: match by term: Ependymoma		 ClinVar
RGD		 PMID:16944316 RGD:2292675 NCBI chr 1:204,133,502...204,142,829
Ensembl chr 1:204,131,501...204,142,823 		JBrowse link
G Banp Btg3 associated nuclear protein ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr19:50,007,710...50,082,742
Ensembl chr19:50,007,881...50,082,738 		JBrowse link
G Bap1 Brca1 associated protein 1 ISO ClinVar Annotator: match by term: Astrocytoma ClinVar PMID:25741868 NCBI chr16:6,446,709...6,455,535
Ensembl chr16:6,446,709...6,455,535 		JBrowse link
G Barhl1 BarH-like homeobox 1 ISO protein:increased expression:brain: RGD PMID:28956815 RGD:14390165 NCBI chr 3:12,241,327...12,248,649
Ensembl chr 3:12,241,327...12,248,649 		JBrowse link
G Batf2 basic leucine zipper ATF-like transcription factor 2 ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr 1:203,467,291...203,479,428
Ensembl chr 1:203,468,097...203,475,889 		JBrowse link
G Bcan brevican severity IEP
ISO
IDA		 protein:increased expression:brain: RGD PMID:12799382 PMID:23253190 PMID:16061654 PMID:11585735 RGD:14392782, RGD:14392804, RGD:14392797, RGD:14392783 NCBI chr 2:173,454,479...173,467,717
Ensembl chr 2:173,454,482...173,467,460 		JBrowse link
G Bdkrb2 bradykinin receptor B2 IEP mRNA:increased expression:brain RGD PMID:20080302 RGD:4891047 NCBI chr 6:124,472,317...124,502,497
Ensembl chr 6:124,472,566...124,502,497 		JBrowse link
G Birc5 baculoviral IAP repeat-containing 5 IEP protein:increased expression:brain RGD PMID:17701349 RGD:2293131 NCBI chr10:103,072,530...103,081,382
Ensembl chr10:103,073,408...103,081,380 		JBrowse link
G Bmi1 BMI1 proto-oncogene, polycomb ring finger ISO CTD Direct Evidence: marker/mechanism CTD PMID:23383216 NCBI chr17:81,332,175...81,341,625
Ensembl chr17:81,332,214...81,388,690 		JBrowse link
G Braf B-Raf proto-oncogene, serine/threonine kinase ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Brainstem glioma		 CTD
ClinVar		 PMID:12068308 PMID:12198537 PMID:12447372 PMID:12460918 PMID:12460919 More... NCBI chr 4:68,375,484...68,510,652
Ensembl chr 4:68,384,649...68,510,463 		JBrowse link
G Brca2 BRCA2, DNA repair associated ISO ClinVar Annotator: match by term: Glioma susceptibility 3
ClinVar Annotator: match by term: Glioma susceptibility 1 | ClinVar Annotator: match by term: Glioma susceptibility 3
ClinVar Annotator: match by term: Brainstem glioma | ClinVar Annotator: match by term: Glioma susceptibility 3
CTD Direct Evidence: marker/mechanism		 ClinVar
OMIM
CTD		 PMID:251866 PMID:278235 PMID:2200631 PMID:8589730 PMID:8673090 More... NCBI chr12:59,492...103,789
Ensembl chr12:59,819...100,567 		JBrowse link
G Brd7 bromodomain containing 7 ISO protein:increased expression:brain: RGD PMID:24404152 RGD:9586441 NCBI chr19:18,708,792...18,737,497
Ensembl chr19:18,709,022...18,737,494 		JBrowse link
G C3 complement C3 treatment ISO RGD PMID:21678475 RGD:7401275 NCBI chr 9:2,087,437...2,114,366
Ensembl chr 9:2,087,437...2,114,429 		JBrowse link
G C8h11orf65 similar to human chromosome 11 open reading frame 65 ISO ClinVar Annotator: match by term: Malignant glioma ClinVar PMID:8659541 PMID:8808599 PMID:9000145 PMID:9463314 PMID:10330348 More... NCBI chr 8:53,796,033...53,825,277
Ensembl chr 8:53,796,366...53,824,748 		JBrowse link
G Cacng2 calcium voltage-gated channel auxiliary subunit gamma 2 ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr 7:109,572,838...109,698,516
Ensembl chr 7:109,574,459...109,697,227 		JBrowse link
G Camk2a calcium/calmodulin-dependent protein kinase II alpha disease_progression ISO RGD PMID:29393370 RGD:13702478 NCBI chr18:54,378,642...54,441,120
Ensembl chr18:54,378,784...54,438,994 		JBrowse link
G Camk2b calcium/calmodulin-dependent protein kinase II beta disease_progression ISO RGD PMID:15750623 RGD:13702479 NCBI chr14:80,845,206...80,934,172
Ensembl chr14:80,845,238...80,933,994 		JBrowse link
G Camkk2 calcium/calmodulin-dependent protein kinase kinase 2 disease_progression ISO RGD PMID:27012733 RGD:13674178 NCBI chr12:33,791,023...33,845,000
Ensembl chr12:33,791,052...33,843,279 		JBrowse link
G Capn1 calpain 1 ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr 1:203,275,912...203,300,848
Ensembl chr 1:203,277,344...203,300,177 		JBrowse link
G Cat catalase ISO CTD Direct Evidence: marker/mechanism CTD PMID:21138464 NCBI chr 3:89,842,393...89,874,577
Ensembl chr 3:89,842,399...89,874,478 		JBrowse link
G Catsperz catsper channel auxiliary subunit zeta ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr 1:204,114,816...204,118,582 JBrowse link
G Cav1 caveolin 1 IEP RGD PMID:22528460 RGD:6784517 NCBI chr 4:45,640,624...45,673,708
Ensembl chr 4:45,634,918...45,673,705 		JBrowse link
G Cav2 caveolin 2 IEP RGD PMID:22528460 RGD:6784517 NCBI chr 4:45,616,766...45,624,144
Ensembl chr 4:45,616,712...45,624,244 		JBrowse link
G Ccdc88b coiled-coil domain containing 88B ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr 1:204,036,913...204,052,878
Ensembl chr 1:204,036,918...204,052,970 		JBrowse link
G Ccn1 cellular communication network factor 1 exacerbates ISO human cells in mouse model RGD PMID:15026334 RGD:329845555 NCBI chr 2:234,562,410...234,565,370
Ensembl chr 2:234,562,408...234,565,484 		JBrowse link
G Ccnd1 cyclin D1 susceptibility
disease_progression		 ISO RGD PMID:22304571 PMID:21844184 PMID:21844184 RGD:13681930, RGD:13702091, RGD:13702091 NCBI chr 1:200,089,002...200,098,524
Ensembl chr 1:200,089,002...200,098,602 		JBrowse link
G Ccr4 C-C motif chemokine receptor 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17522861 NCBI chr 8:114,176,291...114,182,033
Ensembl chr 8:114,176,974...114,178,056 		JBrowse link
G Cd40 CD40 molecule treatment ISO RGD PMID:24878890 RGD:11352275 NCBI chr 3:153,790,372...153,805,279
Ensembl chr 3:153,790,449...153,805,534 		JBrowse link
G Cd80 Cd80 molecule IDA RGD PMID:10078962 RGD:727266 NCBI chr11:62,254,543...62,293,414
Ensembl chr11:62,254,624...62,292,030 		JBrowse link
G Cdc42bpg CDC42 binding protein kinase gamma ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr 1:203,608,339...203,628,502
Ensembl chr 1:203,608,574...203,628,502 		JBrowse link
G Cdc42ep2 CDC42 effector protein 2 ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr 1:203,202,000...203,210,891
Ensembl chr 1:203,201,873...203,210,897 		JBrowse link
G Cdca5 cell division cycle associated 5 ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr 1:203,378,550...203,392,027
Ensembl chr 1:203,378,577...203,392,023 		JBrowse link
G Cdk4 cyclin-dependent kinase 4 disease_progression ISO RGD PMID:23761023 PMID:21844184 RGD:13702090, RGD:13702091 NCBI chr 7:62,886,124...62,889,562
Ensembl chr 7:62,883,105...62,942,403 		JBrowse link
G Cdk6 cyclin-dependent kinase 6 severity ISO DNA:amplification: RGD PMID:22736304 PMID:9102208 RGD:13702093, RGD:13702094 NCBI chr 4:30,637,650...30,829,688
Ensembl chr 4:30,646,460...30,829,634 		JBrowse link
G Cdkn1a cyclin-dependent kinase inhibitor 1A severity
treatment		 ISO DNA:hypermethylation:promoter: RGD PMID:20844987 PMID:9144534 PMID:18791688 RGD:13702125, RGD:13702129, RGD:13702128 NCBI chr20:7,149,177...7,159,727
Ensembl chr20:7,149,217...7,159,585 		JBrowse link
G Cdkn2a cyclin-dependent kinase inhibitor 2A disease_progression ISO DNA:deletions
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:15814359 PMID:19578367 PMID:11314047 RGD:8552305 NCBI chr 5:103,984,949...103,992,143
Ensembl chr 5:103,984,949...104,003,149 		JBrowse link
G Cdkn2b cyclin-dependent kinase inhibitor 2B ISO CTD Direct Evidence: marker/mechanism CTD PMID:19578366 PMID:19578367 NCBI chr 5:104,009,839...104,019,082
Ensembl chr 5:104,010,680...104,019,050 		JBrowse link
G Chaf1a chromatin assembly factor 1 subunit A susceptibility ISO DNA:SNP:intron:rs243356(human) RGD PMID:18048407 RGD:9587459 NCBI chr 9:873,953...900,701
Ensembl chr 9:874,051...900,654 		JBrowse link
G Chaf1b chromatin assembly factor 1 subunit B disease_progression ISO protein:increased expression:brain: RGD PMID:24039914 RGD:9587472 NCBI chr11:33,200,894...33,221,076
Ensembl chr11:33,200,981...33,221,070 		JBrowse link
G Chek2 checkpoint kinase 2 ISO ClinVar Annotator: match by term: Astrocytoma ClinVar PMID:10617473 PMID:11053450 PMID:11479205 PMID:11719428 PMID:11967536 More... NCBI chr12:45,788,823...45,821,382
Ensembl chr12:45,788,827...45,821,286 		JBrowse link
G Chi3l1 chitinase 3 like 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20506295 NCBI chr13:45,641,802...45,649,787
Ensembl chr13:45,641,802...45,649,787 		JBrowse link
G Clcn2 chloride voltage-gated channel 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12843258 NCBI chr11:80,197,741...80,211,657
Ensembl chr11:80,198,153...80,211,657 		JBrowse link
G Clcn3 chloride voltage-gated channel 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12843258 NCBI chr16:29,127,152...29,200,133
Ensembl chr16:29,127,419...29,200,119 		JBrowse link
G Clcn5 chloride voltage-gated channel 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12843258 NCBI chr  X:15,185,380...15,339,977
Ensembl chr  X:15,185,451...15,334,264 		JBrowse link
G Cntn2 contactin 2 severity ISO mRNA, protein:increased expression:brain (human) RGD PMID:11280781 RGD:734799 NCBI chr13:43,942,868...43,975,973
Ensembl chr13:43,947,265...43,975,887 		JBrowse link
G Cox8a cytochrome c oxidase subunit 8A ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr 1:204,402,118...204,404,439 JBrowse link
G Cplane1 ciliogenesis and planar polarity effector complex subunit 1 ISO ClinVar Annotator: match by term: Astrocytoma ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:57,269,195...57,369,580
Ensembl chr 2:57,268,884...57,369,500 		JBrowse link
G Csf1 colony stimulating factor 1 IMP RGD PMID:15728459 RGD:2293641 NCBI chr 2:195,377,215...195,396,608
Ensembl chr 2:195,377,215...195,411,704 		JBrowse link
G Ctsb cathepsin B IDA RGD PMID:17287256 RGD:2315520 NCBI chr15:37,389,636...37,410,508
Ensembl chr15:37,389,629...37,410,500 		JBrowse link
G Cxcr3 C-X-C motif chemokine receptor 3 IMP RGD PMID:16434036 RGD:5135509 NCBI chr  X:66,844,318...66,846,969
Ensembl chr  X:66,844,318...66,846,969 		JBrowse link
G Cyp2b1 cytochrome P450, family 2, subfamily b, polypeptide 1 EXP CTD Direct Evidence: therapeutic CTD PMID:7834628 NCBI chr 1:81,518,387...81,544,999
Ensembl chr 1:81,518,408...81,542,052 		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 1:195,840,330...195,850,728
Ensembl chr 1:195,840,058...195,864,023 		JBrowse link
G Dcn decorin disease_progression ISO RGD PMID:15475879 RGD:2311425 NCBI chr 7:32,281,252...32,321,291
Ensembl chr 7:32,281,252...32,321,270 		JBrowse link
G Dcx doublecortin disease_progression
treatment		 ISO RGD PMID:17178868 PMID:21477071 PMID:19681167 RGD:12904748, RGD:12904761, RGD:12904754 NCBI chr  X:107,430,767...107,573,612
Ensembl chr  X:107,430,767...107,507,476 		JBrowse link
G Ddr1 discoidin domain receptor tyrosine kinase 1 severity ISO mRNA, protein:increased expression:brain (human) RGD PMID:16652150 RGD:151347531 NCBI chr20:3,042,494...3,064,442
Ensembl chr20:3,044,320...3,064,468 		JBrowse link
G Depdc5 DEP domain containing 5, GATOR1 subcomplex subunit ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr14:77,732,297...77,862,924
Ensembl chr14:77,732,297...77,862,794 		JBrowse link
G Dlk1 delta like non-canonical Notch ligand 1 ISO RGD PMID:16288219 RGD:1625600 NCBI chr 6:128,410,216...128,417,518
Ensembl chr 6:128,410,316...128,417,522 		JBrowse link
G Dll4 delta like canonical Notch ligand 4 ameliorates ISO RGD PMID:17183313 RGD:155791441 NCBI chr 3:106,317,114...106,327,004
Ensembl chr 3:106,316,986...106,326,931 		JBrowse link
G Dmxl1 Dmx-like 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16865689 NCBI chr18:42,993,292...43,163,457
Ensembl chr18:42,993,340...43,163,456 		JBrowse link
G Dnajc4 DnaJ heat shock protein family (Hsp40) member C4 ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr 1:204,178,189...204,182,412
Ensembl chr 1:204,178,191...204,182,387 		JBrowse link
G Dpf2 double PHD fingers 2 ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr 1:203,183,674...203,199,037
Ensembl chr 1:203,183,686...203,198,983 		JBrowse link
G E2f1 E2F transcription factor 1 severity ISO RGD PMID:28042322 RGD:13702468 NCBI chr 3:143,064,535...143,075,362
Ensembl chr 3:143,049,478...143,075,361 		JBrowse link
G E2f3 E2F transcription factor 3 disease_progression ISO RGD PMID:28337965 RGD:13702470 NCBI chr17:34,601,756...34,679,139
Ensembl chr17:34,601,830...34,676,253 		JBrowse link
G Efemp1 EGF containing fibulin extracellular matrix protein 1 ISO protein:increased expression:brain: RGD PMID:19887559 RGD:10401656 NCBI chr14:102,610,813...102,690,027
Ensembl chr14:102,610,908...102,690,018 		JBrowse link
G Efl1 elongation factor like GTPase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25015090 NCBI chr 1:136,638,527...136,763,518
Ensembl chr 1:136,638,527...136,763,518 		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 2:218,219,408...218,302,359
Ensembl chr 2:218,219,415...218,302,064 		JBrowse link
G Egfr epidermal growth factor receptor treatment ISO
IMP		 protein:alternative form:tumor (human)
ClinVar Annotator: match by term: Brainstem glioma		 ClinVar
RGD		 PMID:17177598 PMID:26619011 PMID:7606735 PMID:10616092 RGD:5131512, RGD:38599219 NCBI chr14:91,176,979...91,349,722
Ensembl chr14:91,177,067...91,344,382 		JBrowse link
G Ehbp1l1 EH domain binding protein 1-like 1 ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr 1:202,994,115...203,014,320
Ensembl chr 1:202,994,118...203,014,270 		JBrowse link
G Ehd1 EH-domain containing 1 ISO ClinVar Annotator: match by term: Ependymoma
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD		 PMID:35616188 NCBI chr 1:203,579,850...203,602,226
Ensembl chr 1:203,579,869...203,602,212 		JBrowse link
G Entpd2 ectonucleoside triphosphate diphosphohydrolase 2 ISO RGD PMID:19558578 RGD:9685528 NCBI chr 3:8,213,575...8,219,094
Ensembl chr 3:8,213,663...8,226,866 		JBrowse link
G Epha5 EPH receptor A5 ISO ClinVar Annotator: match by term: Astrocytoma ClinVar PMID:25741868 NCBI chr14:23,653,393...24,020,129
Ensembl chr14:23,653,393...24,017,317 		JBrowse link
G Epo erythropoietin ISO RGD PMID:21749867 RGD:10400910 NCBI chr12:19,204,258...19,207,948
Ensembl chr12:19,204,508...19,207,946 		JBrowse link
G Epor erythropoietin receptor IMP RGD PMID:21749867 RGD:10400910 NCBI chr 8:20,489,678...20,494,257
Ensembl chr 8:20,489,678...20,494,257 		JBrowse link
G Erbb2 erb-b2 receptor tyrosine kinase 2 ISO ClinVar Annotator: match by term: Glioma susceptibility 1
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:15457249 NCBI chr10:83,411,197...83,435,078
Ensembl chr10:83,411,313...83,435,078 		JBrowse link
G Ercc1 ERCC excision repair 1, endonuclease non-catalytic subunit susceptibility ISO DNA:snp:3'utr:c.8092C>A (human) (rs3212986) RGD PMID:25867436 RGD:13207318 NCBI chr 1:78,971,310...79,007,963
Ensembl chr 1:78,996,390...79,007,963 		JBrowse link
G Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit susceptibility ISO RGD PMID:11319176 RGD:10401082 NCBI chr 1:79,033,342...79,047,102
Ensembl chr 1:79,033,326...79,047,102 		JBrowse link
G Ercc5 ERCC excision repair 5, endonuclease susceptibility ISO DNA:SNP:cd: p.D1558H (rs17655) (human) RGD PMID:23534771 RGD:401850601 NCBI chr 9:46,309,477...46,354,478
Ensembl chr 9:46,309,389...46,354,472 		JBrowse link
G Esrra estrogen related receptor, alpha ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr 1:204,104,100...204,114,182
Ensembl chr 1:204,104,101...204,114,268 		JBrowse link
G F2 coagulation factor II, thrombin treatment IMP RGD PMID:15975137 RGD:1578509 NCBI chr 3:77,596,196...77,609,486
Ensembl chr 3:77,596,198...77,609,486 		JBrowse link
G Fam107a family with sequence similarity 107, member A ISO CTD Direct Evidence: marker/mechanism CTD PMID:16865689 NCBI chr15:16,608,362...16,630,398
Ensembl chr15:16,607,205...16,630,396 		JBrowse link
G Fam89b family with sequence similarity 89, member B ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr 1:203,015,772...203,017,890
Ensembl chr 1:203,015,773...203,017,367 		JBrowse link
G Fas Fas cell surface death receptor severity ISO mouse gene in a rat model RGD PMID:11440439 RGD:8663460 NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591 		JBrowse link
G Fau FAU ubiquitin like and ribosomal protein S30 fusion ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr 1:203,350,226...203,351,741
Ensembl chr 1:203,350,189...203,351,742 		JBrowse link
G Fbxw7 F-box and WD repeat domain containing 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18931460 NCBI chr 2:170,149,706...170,311,536
Ensembl chr 2:170,149,694...170,309,941 		JBrowse link
G Fermt3 FERM domain containing kindlin 3 ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr 1:204,189,483...204,207,683
Ensembl chr 1:204,189,484...204,207,587 		JBrowse link
G Fgf2 fibroblast growth factor 2 ISO CTD Direct Evidence: therapeutic CTD PMID:10673511 NCBI chr 2:120,236,328...120,290,673
Ensembl chr 2:120,236,328...120,291,221 		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:25741868 More... NCBI chr16:66,491,930...66,547,161
Ensembl chr16:66,494,042...66,547,350 		JBrowse link
G Flrt1 fibronectin leucine rich transmembrane protein 1 ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr 1:204,275,785...204,292,844
Ensembl chr 1:204,275,367...204,353,750 		JBrowse link
G Flt3lg Fms related receptor tyrosine kinase 3 ligand treatment ISO RGD PMID:15564139 RGD:11049500 NCBI chr 1:95,615,056...95,620,463
Ensembl chr 1:95,609,370...95,620,463 		JBrowse link
G Frmd8 FERM domain containing 8 ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr 1:203,143,216...203,163,868
Ensembl chr 1:203,143,218...203,163,870 		JBrowse link
G Fth1 ferritin heavy chain 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21385903 NCBI chr 1:206,627,142...206,629,430
Ensembl chr 1:206,627,103...206,725,424 		JBrowse link
G Gdnf glial cell derived neurotrophic factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:19138852 NCBI chr 2:56,894,022...56,919,935
Ensembl chr 2:56,895,010...56,917,209 		JBrowse link
G Gja1 gap junction protein, alpha 1 IMP RGD PMID:22808518 RGD:7207264 NCBI chr20:35,756,007...35,768,481
Ensembl chr20:35,755,991...35,768,582 		JBrowse link
G Glb1 galactosidase, beta 1 ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr 8:114,085,508...114,158,127
Ensembl chr 8:114,085,508...114,158,127 		JBrowse link
G Gon4l gon-4 like ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr 2:174,233,461...174,306,636
Ensembl chr 2:174,233,461...174,306,634 		JBrowse link
G Gpha2 glycoprotein hormone subunit alpha 2 ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr 1:203,525,952...203,527,271
Ensembl chr 1:203,526,122...203,527,270 		JBrowse link
G Gpr137 G protein-coupled receptor 137 ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr 1:204,129,636...204,132,622
Ensembl chr 1:204,129,636...204,133,082 		JBrowse link
G Gstm1 glutathione S-transferase mu 1 severity ISO RGD PMID:10965818 RGD:5490163 NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411 		JBrowse link
G Gstm3 glutathione S-transferase mu 3 ISO DNA: deletion: intron 6 RGD PMID:16598069 RGD:5688743 NCBI chr 2:195,590,450...195,612,578
Ensembl chr 2:195,607,289...195,612,475 		JBrowse link
G Gstm5 glutathione S-transferase, mu 5 ISO DNA: deletion: intron 6 RGD PMID:16598069 RGD:5688743 NCBI chr 2:195,531,599...195,534,562
Ensembl chr 2:195,531,495...195,534,553 		JBrowse link
G Gstp1 glutathione S-transferase pi 1 susceptibility ISO DNA:polymorphism:exon:p.I105V (rs1695) (human)
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:16899598 PMID:15006924 RGD:5490124 NCBI chr 1:201,337,762...201,340,230
Ensembl chr 1:201,321,672...201,340,226 		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 chr13:92,533,289...92,544,902
Ensembl chr13:92,533,298...92,544,908 		JBrowse link
G Hdac3 histone deacetylase 3 disease_progression ISO mRNA,protein:increased expression:brain:
ClinVar Annotator: match by term: Ependymoma		 ClinVar
RGD		 PMID:23685192 RGD:9590201 NCBI chr18:29,770,637...29,789,850
Ensembl chr18:29,770,636...29,793,856 		JBrowse link
G Hells helicase, lymphoid specific severity ISO RGD PMID:28042322 RGD:13702468 NCBI chr 1:236,701,704...236,748,239
Ensembl chr 1:236,701,758...236,746,844 		JBrowse link
G Hgf hepatocyte growth factor disease_progression ISO protein:increased expression:brain: RGD PMID:12115353 RGD:8548633 NCBI chr 4:18,673,736...18,745,582
Ensembl chr 4:18,677,101...18,745,409 		JBrowse link
G Hmgb1 high mobility group box 1 treatment IMP RGD PMID:10830965 RGD:10402059 NCBI chr12:5,972,950...5,979,658
Ensembl chr12:5,901,586...5,978,565
Ensembl chr16:5,901,586...5,978,565 		JBrowse link
G Hmgn5 high mobility group nucleosome binding domain 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22109888 NCBI chr  X:74,085,871...74,094,488
Ensembl chr  X:74,085,875...74,094,441 		JBrowse link
G Hoxd11 homeobox D11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:33614284 NCBI chr 3:59,584,840...59,587,257
Ensembl chr 3:59,585,039...59,586,783 		JBrowse link
G Hras HRas proto-oncogene, GTPase ISO
ISS		 CTD Direct Evidence: marker/mechanism CTD
MouseDO		 PMID:30619488 NCBI chr 1:196,290,127...196,299,823
Ensembl chr 1:196,296,263...196,300,615 		JBrowse link
G Hsd3b2 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr 2:186,095,897...186,105,354
Ensembl chr 2:186,095,897...186,101,852 		JBrowse link
G Hspa5 heat shock protein family A (Hsp70) member 5 ISO protein:increased expression RGD PMID:21112319 RGD:5685704 NCBI chr 3:18,055,507...18,059,969
Ensembl chr 3:18,055,405...18,059,891 		JBrowse link
G Idh1 isocitrate dehydrogenase (NADP(+)) 1 susceptibility ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Brainstem glioma | ClinVar Annotator: match by term: Glioma susceptibility 1		 CTD
ClinVar
OMIM		 PMID:18772396 PMID:19657110 PMID:19798509 PMID:19818334 PMID:19901110 More... NCBI chr 9:66,534,146...66,563,703
Ensembl chr 9:66,534,146...66,563,708 		JBrowse link
G Idh2 isocitrate dehydrogenase (NADP(+)) 2 ISO ClinVar Annotator: match by term: Brainstem glioma ClinVar PMID:20946881 PMID:21250968 PMID:21596855 PMID:21997850 PMID:22160010 More... NCBI chr 1:134,038,644...134,057,969
Ensembl chr 1:134,029,772...134,058,025 		JBrowse link
G Ifng interferon gamma IDA RGD PMID:10078962 RGD:727266 NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375 		JBrowse link
G Igf1 insulin-like growth factor 1 severity ISO protein:increased expression:serum: RGD PMID:21788435 RGD:8548833 NCBI chr 7:22,282,895...22,361,972
Ensembl chr 7:22,282,930...22,359,296 		JBrowse link
G Igf1r insulin-like growth factor 1 receptor ISO DNA: SNP: : rs2272037 or rs2016347 RGD PMID:18562769 RGD:5686434 NCBI chr 1:121,549,831...121,838,548
Ensembl chr 1:121,550,743...121,831,777 		JBrowse link
G Igfbp3 insulin-like growth factor binding protein 3 severity ISO protein:increased expression:serum: RGD PMID:21788435 RGD:8548833 NCBI chr14:82,056,347...82,064,083
Ensembl chr14:82,056,347...82,064,083 		JBrowse link
G Il10 interleukin 10 susceptibility ISO DNA:SNP: :rs1800896 (human) RGD PMID:20406895 RGD:4140470 NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313 		JBrowse link
G Il12a interleukin 12A ISO CTD Direct Evidence: therapeutic CTD PMID:18176109 NCBI chr 2:152,965,769...152,973,035
Ensembl chr 2:152,965,769...152,972,734 		JBrowse link
G Il12b interleukin 12B ISO CTD Direct Evidence: therapeutic CTD PMID:18176109 NCBI chr10:28,888,832...28,903,802
Ensembl chr10:28,893,008...28,902,903 		JBrowse link
G Il18 interleukin 18 treatment ISO RGD PMID:18725309 RGD:8657054 NCBI chr 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887 		JBrowse link
G Il2 interleukin 2 treatment ISO RGD PMID:12864971 RGD:8663439 NCBI chr 2:120,004,862...120,009,566
Ensembl chr 2:120,004,862...120,009,566 		JBrowse link
G Il4 interleukin 4 treatment ISO RGD PMID:9973213 RGD:8142389 NCBI chr10:37,771,203...37,776,750
Ensembl chr10:37,771,203...37,776,750 		JBrowse link
G Il7 interleukin 7 IDA RGD PMID:10078962 RGD:727266 NCBI chr 2:94,235,219...94,280,075
Ensembl chr 2:94,234,766...94,280,075 		JBrowse link
G Isg15 ISG15 ubiquitin-like modifier ISO CTD Direct Evidence: marker/mechanism CTD PMID:35506701 NCBI chr 5:166,784,148...166,785,435
Ensembl chr 5:166,784,148...166,785,435 		JBrowse link
G Kat6b lysine acetyltransferase 6B ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr15:2,638,885...2,811,977
Ensembl chr15:2,639,200...2,812,316 		JBrowse link
G Kcnk4 potassium two pore domain channel subfamily K member 4 ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr 1:204,117,941...204,129,494
Ensembl chr 1:204,114,572...204,125,925 		JBrowse link
G Kcnk7 potassium two pore domain channel subfamily K member 7 ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr 1:202,988,801...202,992,842
Ensembl chr 1:202,990,198...202,992,872 		JBrowse link
G Kdm5b lysine demethylase 5B disease_progression ISO RGD PMID:25450384 PMID:25450384 RGD:13702126, RGD:13702126 NCBI chr13:46,001,589...46,073,868
Ensembl chr13:46,002,542...46,073,872 		JBrowse link
G Kdr kinase insert domain receptor disease_progression
severity		 ISO RGD PMID:20501615 PMID:10506722 RGD:5684393, RGD:5684425 NCBI chr14:32,217,871...32,261,018
Ensembl chr14:32,217,871...32,261,018 		JBrowse link
G Klhl21 kelch-like family member 21 ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr 5:162,514,888...162,523,545
Ensembl chr 5:162,514,765...162,523,545 		JBrowse link
G Klln killin, p53-regulated DNA replication inhibitor ISO ClinVar Annotator: match by term: Glioma susceptibility 2 ClinVar PMID:25741868 PMID:27535533
G Kmt2d lysine methyltransferase 2D ISO ClinVar Annotator: match by term: Astrocytoma ClinVar PMID:25741868 NCBI chr 7:129,980,744...130,022,088
Ensembl chr 7:129,962,887...130,020,325 		JBrowse link
G Kras KRAS proto-oncogene, GTPase severity ISO RGD PMID:22207524 PMID:19435821 RGD:13702477, RGD:13702860 NCBI chr 4:178,185,418...178,218,484 JBrowse link
G Kremen2 kringle containing transmembrane protein 2 ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr10:12,763,345...12,767,622
Ensembl chr10:12,763,397...12,767,854 		JBrowse link
G Lats1 large tumor suppressor kinase 1 ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr 1:2,160,411...2,193,640
Ensembl chr 1:2,160,411...2,193,640 		JBrowse link
G Letm1 leucine zipper and EF-hand containing transmembrane protein 1 ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr14:76,942,647...76,982,220
Ensembl chr14:76,942,729...76,984,904 		JBrowse link
G Lgals3 galectin 3 disease_progression IEP RGD PMID:23179497 RGD:9685225 NCBI chr15:20,620,083...20,632,019
Ensembl chr15:20,607,692...20,632,025 		JBrowse link
G Lig4 DNA ligase 4 ISO DNA:SNP: :rs1805388 (human) RGD PMID:23663450 RGD:13204718 NCBI chr16:79,518,393...79,526,956
Ensembl chr16:79,518,312...79,527,040 		JBrowse link
G Lta lymphotoxin alpha treatment ISO RGD PMID:1883913 RGD:1625042 NCBI chr20:3,618,853...3,621,324
Ensembl chr20:3,618,853...3,620,859 		JBrowse link
G Ltbp3 latent transforming growth factor beta binding protein 3 ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr 1:203,029,412...203,045,975
Ensembl chr 1:203,029,877...203,045,975 		JBrowse link
G Macrod1 mono-ADP ribosylhydrolase 1 ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr 1:204,246,238...204,387,027
Ensembl chr 1:204,246,166...204,389,716 		JBrowse link
G Majin membrane anchored junction protein ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr 1:203,487,777...203,524,098
Ensembl chr 1:203,488,069...203,524,092 		JBrowse link
G Map2k1 mitogen activated protein kinase kinase 1 ISO RGD PMID:21057530 RGD:13702863 NCBI chr 8:64,683,449...64,754,900
Ensembl chr 8:64,683,449...64,755,147 		JBrowse link
G Map3k11 mitogen-activated protein kinase kinase kinase 11 ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr 1:202,975,353...202,988,655
Ensembl chr 1:202,975,353...202,988,652 		JBrowse link
G Map4k2 mitogen activated protein kinase kinase kinase kinase 2 ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr 1:203,645,098...203,660,782
Ensembl chr 1:203,645,153...203,660,331 		JBrowse link
G Map4k3 mitogen-activated protein kinase kinase kinase kinase 3 ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr 6:14,276,623...14,446,321
Ensembl chr 6:14,277,121...14,446,334 		JBrowse link
G Mapk3 mitogen activated protein kinase 3 ISO RGD PMID:27256374 RGD:13702865 NCBI chr 1:181,366,646...181,372,863
Ensembl chr 1:181,366,637...181,372,863 		JBrowse link
G Mark2 microtubule affinity regulating kinase 2 ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr 1:204,461,029...204,526,247
Ensembl chr 1:204,461,030...204,525,652 		JBrowse link
G Mdk midkine ISO CTD Direct Evidence: marker/mechanism CTD PMID:21233844 NCBI chr 3:77,901,134...77,903,997
Ensembl chr 3:77,901,158...77,903,130 		JBrowse link
G Men1 menin 1 ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr 1:203,638,905...203,644,871
Ensembl chr 1:203,639,000...203,644,871 		JBrowse link
G Met MET proto-oncogene, receptor tyrosine kinase IEP protein:increased expression:brain, glioma (rat) RGD PMID:18194445 RGD:2317467 NCBI chr 4:45,790,456...45,898,139
Ensembl chr 4:45,790,791...45,897,876 		JBrowse link
G Mgmt O-6-methylguanine-DNA methyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16033832 PMID:16899598 PMID:19901110 NCBI chr 1:191,710,980...191,937,760
Ensembl chr 1:191,710,930...191,937,756 		JBrowse link
G Mir192 microRNA 192 ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr 1:203,564,946...203,565,055
Ensembl chr 1:203,564,946...203,565,055 		JBrowse link
G Mir194-2 microRNA 194-2 ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr 1:203,564,761...203,564,845
Ensembl chr 1:203,564,761...203,564,845 		JBrowse link
G Mki67 marker of proliferation Ki-67 IDA RGD PMID:22262719 RGD:6483547 NCBI chr 1:190,496,319...190,522,983
Ensembl chr 1:190,496,319...190,522,762 		JBrowse link
G Mmp2 matrix metallopeptidase 2 treatment IEP RGD PMID:19292920 RGD:8657080 NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870 		JBrowse link
G Mrpl49 mitochondrial ribosomal protein L49 ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr 1:203,346,068...203,350,040
Ensembl chr 1:203,332,481...203,350,049 		JBrowse link
G Msh2 mutS homolog 2 ISO ClinVar Annotator: match by term: Ependymoma ClinVar PMID:11726306 PMID:15849733 PMID:17101317 PMID:25741868 PMID:28492532 More... NCBI chr 6:6,813,793...6,872,960
Ensembl chr 6:6,813,795...6,872,938 		JBrowse link
G Mt-nd4 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr MT:10,160...11,537
NCBI chr MT:10,160...11,537
NCBI chr MT:10,160...11,537
Ensembl chr MT:10,160...11,537 		JBrowse link
G Mtor mechanistic target of rapamycin kinase severity ISO RGD PMID:20878445 RGD:13702868 NCBI chr 5:158,884,856...158,994,311
Ensembl chr 5:158,884,804...158,994,311 		JBrowse link
G Myb MYB proto-oncogene, transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:23583981 PMID:26829751 NCBI chr 1:15,939,771...15,973,367
Ensembl chr 1:15,939,761...15,973,057 		JBrowse link
G Mybl1 MYB proto-oncogene like 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23583981 NCBI chr 5:9,582,905...9,618,179
Ensembl chr 5:9,582,934...9,618,183 		JBrowse link
G Mylk myosin light chain kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:10232591 NCBI chr11:65,783,008...66,030,239
Ensembl chr11:65,783,008...66,030,261 		JBrowse link
G Naa40 N(alpha)-acetyltransferase 40, NatD catalytic subunit ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr 1:204,410,636...204,430,890
Ensembl chr 1:204,413,498...204,430,717 		JBrowse link
G Naaladl1 N-acetylated alpha-linked acidic dipeptidase-like 1 ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr 1:203,400,632...203,414,195
Ensembl chr 1:203,400,631...203,414,195 		JBrowse link
G Nadsyn1 NAD synthetase 1 susceptibility ISO RGD PMID:22740028 RGD:13703114 NCBI chr 1:198,981,559...199,009,853
Ensembl chr 1:198,981,604...199,009,869 		JBrowse link
G Ndrg4 NDRG family member 4 disease_progression ISO protein:decreased expression:brain RGD PMID:22399192 RGD:7247727 NCBI chr19:9,351,408...9,387,398
Ensembl chr19:9,351,404...9,386,914 		JBrowse link
G Net1 neuroepithelial cell transforming 1 ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr17:66,341,251...66,370,445
Ensembl chr17:66,340,728...66,370,441 		JBrowse link
G Nf1 neurofibromin 1 disease_progression ISO CTD Direct Evidence: marker/mechanism
DNA:mutations: :		 CTD
RGD		 PMID:25119042 PMID:26190195 RGD:12789702 NCBI chr10:64,306,027...64,539,112
Ensembl chr10:64,306,301...64,536,658 		JBrowse link
G Nf2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr14:79,627,399...79,710,709
Ensembl chr14:79,627,399...79,710,667 		JBrowse link
G Nos3 nitric oxide synthase 3 ISO protein:increased expression:blood vessel endothelial cell RGD PMID:14672505 RGD:2292080 NCBI chr 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166 		JBrowse link
G Nrxn2 neurexin 2 ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr 1:203,726,420...203,842,301
Ensembl chr 1:203,735,753...203,842,297 		JBrowse link
G Ntrk1 neurotrophic receptor tyrosine kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24705251 NCBI chr 2:173,236,961...173,253,806
Ensembl chr 2:173,236,963...173,253,770 		JBrowse link
G Ntrk2 neurotrophic receptor tyrosine kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24705251 NCBI chr17:5,558,992...5,870,299
Ensembl chr17:5,559,043...5,869,136 		JBrowse link
G Ntrk3 neurotrophic receptor tyrosine kinase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24705251 NCBI chr 1:132,116,472...132,503,849
Ensembl chr 1:132,132,849...132,503,286 		JBrowse link
G Nudt22 nudix hydrolase 22 ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr 1:204,182,797...204,186,421
Ensembl chr 1:204,182,802...204,186,280 		JBrowse link
G Otub1 OTU deubiquitinase, ubiquitin aldehyde binding 1 ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr 1:204,387,215...204,395,495
Ensembl chr 1:204,387,215...204,395,483 		JBrowse link
G Otud5 OTU deubiquitinase 5 ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr  X:14,626,173...14,659,331
Ensembl chr  X:14,626,164...14,659,573 		JBrowse link
G Patz1 POZ (BTB) and AT hook containing zinc finger 1 ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr14:78,154,590...78,173,032
Ensembl chr14:78,152,516...78,173,032 		JBrowse link
G Pcmt1 protein-L-isoaspartate (D-aspartate) O-methyltransferase 1 IEP mRNA:decreased expression:brain: RGD PMID:15857672 RGD:10448283 NCBI chr 1:2,111,756...2,160,354
Ensembl chr 1:2,111,763...2,159,201 		JBrowse link
G Pcnx3 pecanex 3 ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr 1:202,951,322...202,974,167
Ensembl chr 1:202,951,322...202,976,561 		JBrowse link
G Pdap1 PDGFA associated protein 1 severity ISO RGD PMID:27448842 RGD:13702895 NCBI chr12:9,470,652...9,480,880
Ensembl chr12:9,470,574...9,535,374 		JBrowse link
G Pdgfa platelet derived growth factor subunit A ISO in a mouse model RGD PMID:21490965 RGD:13702894 NCBI chr12:15,645,549...15,667,056
Ensembl chr12:15,645,541...15,666,497 		JBrowse link
G Pdgfb platelet derived growth factor subunit B severity ISO RGD PMID:27448842 PMID:21677873 PMID:26945107 RGD:13702895, RGD:13702897, RGD:13702896 NCBI chr 7:111,539,444...111,557,984
Ensembl chr 7:111,540,345...111,557,984 		JBrowse link
G Phldb1 pleckstrin homology-like domain, family B, member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19578367 NCBI chr 8:45,003,543...45,051,541
Ensembl chr 8:45,003,538...45,051,522 		JBrowse link
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha ISO ClinVar Annotator: match by term: Brainstem glioma ClinVar
RGD		 PMID:15016963 PMID:15254419 PMID:15520168 PMID:15608678 PMID:15647370 More... RGD:2290476 NCBI chr 2:115,175,275...115,249,034
Ensembl chr 2:115,174,984...115,249,032 		JBrowse link
G Pik3r3 phosphoinositide-3-kinase regulatory subunit 3 treatment ISO RGD PMID:28260020 RGD:13782053 NCBI chr 5:129,700,925...129,772,591
Ensembl chr 5:129,701,229...129,772,583 		JBrowse link
G Plau plasminogen activator, urokinase severity ISO protein:increased expression:brain (human) RGD PMID:7604873 RGD:7241260 NCBI chr15:3,456,230...3,462,732
Ensembl chr15:3,456,232...3,462,775 		JBrowse link
G Plcb3 phospholipase C beta 3 ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr 1:204,143,257...204,160,384
Ensembl chr 1:204,144,956...204,160,228 		JBrowse link
G Plk1 polo-like kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22000864 NCBI chr 1:176,716,420...176,726,400
Ensembl chr 1:176,716,420...176,726,400 		JBrowse link
G Pola2 DNA polymerase alpha 2, accessory subunit ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr 1:203,227,183...203,251,350
Ensembl chr 1:203,203,388...203,251,348 		JBrowse link
G Pot1 protection of telomeres 1 ISO ClinVar Annotator: match by term: Glioma susceptibility 1 | ClinVar Annotator: match by term: Glioma susceptibility 9 ClinVar PMID:25741868 PMID:26467025 PMID:28492532 PMID:32191290 PMID:34193977 NCBI chr 4:54,205,330...54,263,137
Ensembl chr 4:54,205,332...54,263,042 		JBrowse link
G Pou3f4 POU class 3 homeobox 4 ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr  X:75,858,646...75,859,923
Ensembl chr  X:75,858,646...75,859,923 		JBrowse link
G Pou5f1 POU class 5 homeobox 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:35506701 NCBI chr20:3,223,128...3,227,891
Ensembl chr20:3,223,129...3,227,891 		JBrowse link
G Pparg peroxisome proliferator-activated receptor gamma ISO ClinVar Annotator: match by term: Glioma susceptibility 1 ClinVar PMID:9467001 PMID:10381354 PMID:10523018 PMID:10690291 PMID:10851250 More... NCBI chr 4:148,423,102...148,548,471
Ensembl chr 4:148,423,194...148,548,468 		JBrowse link
G Ppm1d protein phosphatase, Mg2+/Mn2+ dependent, 1D ISO CTD Direct Evidence: marker/mechanism CTD PMID:24880341 NCBI chr10:70,172,603...70,208,607
Ensembl chr10:70,172,603...70,208,607 		JBrowse link
G Ppp1r14b protein phosphatase 1, regulatory (inhibitor) subunit 14B ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr 1:204,165,210...204,167,320
Ensembl chr 1:204,163,299...204,167,319 		JBrowse link
G Ppp2r5b protein phosphatase 2, regulatory subunit B', beta ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr 1:203,527,268...203,535,442
Ensembl chr 1:203,527,270...203,535,416 		JBrowse link
G Prdx5 peroxiredoxin 5 ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr 1:204,099,826...204,103,589
Ensembl chr 1:204,099,826...204,114,268 		JBrowse link
G Prkca protein kinase C, alpha ISO DNA:gene fusion: : RGD PMID:26671581 RGD:11087038 NCBI chr10:92,889,390...93,288,013
Ensembl chr10:92,894,012...93,288,012 		JBrowse link
G Psd3 pleckstrin and Sec7 domain containing 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16865689 NCBI chr16:21,465,643...22,035,846
Ensembl chr16:21,465,639...22,034,547 		JBrowse link
G Pten phosphatase and tensin homolog susceptibility ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Glioma susceptibility 2
ClinVar Annotator: match by term: Brainstem glioma | ClinVar Annotator: match by term: Glioma susceptibility 2
DNA:deletions, missense mutations, nonsense mutation:exons:multiple (human)		 CTD
OMIM
ClinVar
RGD		 PMID:792966 PMID:1336932 PMID:7728760 PMID:8980400 PMID:9140396 More... RGD:12801495 NCBI chr 1:230,630,443...230,697,070
Ensembl chr 1:230,630,338...230,696,838 		JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15561105 NCBI chr13:62,163,936...62,172,193
Ensembl chr13:62,163,932...62,172,188 		JBrowse link
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 ISO ClinVar Annotator: match by term: Astrocytoma ClinVar PMID:11704759 PMID:12634870 PMID:12717436 PMID:14644997 PMID:14974085 More... NCBI chr12:35,365,436...35,424,925
Ensembl chr12:35,383,144...35,424,925 		JBrowse link
G Pygm glycogen phosphorylase, muscle associated ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr 1:203,690,550...203,705,369
Ensembl chr 1:203,690,533...203,705,368 		JBrowse link
G Qki QKI, KH domain containing RNA binding ISO CTD Direct Evidence: marker/mechanism CTD PMID:26829751 NCBI chr 1:50,387,716...50,501,568
Ensembl chr 1:50,387,698...50,498,831 		JBrowse link
G Raf1 Raf-1 proto-oncogene, serine/threonine kinase ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Glioma		 CTD
ClinVar		 PMID:23583981 NCBI chr 4:148,679,534...148,740,265
Ensembl chr 4:148,679,530...148,740,317 		JBrowse link
G Rasgrp2 RAS guanyl releasing protein 2 ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr 1:203,705,777...203,722,993
Ensembl chr 1:203,707,481...203,722,993 		JBrowse link
G Rassf1 Ras association domain family member 1 ISO RGD PMID:17325427 RGD:2291979 NCBI chr 8:108,225,023...108,236,164
Ensembl chr 8:108,225,023...108,236,164 		JBrowse link
G Rcor2 REST corepressor 2 ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr 1:204,453,403...204,461,403
Ensembl chr 1:204,454,360...204,460,838 		JBrowse link
G Rela RELA proto-oncogene, NF-kB subunit ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr 1:202,925,001...202,935,484
Ensembl chr 1:202,924,945...202,935,484 		JBrowse link
G Ret ret proto-oncogene ISO ClinVar Annotator: match by term: Ependymoma ClinVar PMID:25741868 NCBI chr 4:151,325,969...151,368,176
Ensembl chr 4:151,326,431...151,368,176 		JBrowse link
G Rnf43 ring finger protein 43 exacerbates ISO protein:decreased expression:brain, brainstem (human) RGD PMID:25755738 RGD:151361124 NCBI chr10:72,461,508...72,537,301
Ensembl chr10:72,464,348...72,536,977 		JBrowse link
G Ros1 ROS proto-oncogene 1 , receptor tyrosine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:19276365 NCBI chr20:31,432,636...31,583,998
Ensembl chr20:31,432,637...31,583,865 		JBrowse link
G Rps6ka4 ribosomal protein S6 kinase A4 ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr 1:204,021,805...204,032,781
Ensembl chr 1:204,021,806...204,032,761 		JBrowse link
G RT1-CE16 RT1 class I, locus CE16 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14511464 NCBI chr20:3,257,109...3,260,747
Ensembl chr20:3,257,123...3,279,563 		JBrowse link
G Rtel1 regulator of telomere elongation helicase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19578366 PMID:19578367 NCBI chr 3:168,427,247...168,465,349
Ensembl chr 3:168,419,579...168,465,348 		JBrowse link
G Sac3d1 SAC3 domain containing 1 ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr 1:203,414,184...203,416,563
Ensembl chr 1:203,414,187...203,416,604 		JBrowse link
G Scyl1 SCY1 like pseudokinase 1 ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr 1:203,045,776...203,059,550
Ensembl chr 1:203,045,741...203,059,533 		JBrowse link
G Serpine1 serpin family E member 1 ISO protein:increased expression:plasma RGD PMID:14977830 RGD:13208546 NCBI chr12:19,601,272...19,611,657
Ensembl chr12:19,601,272...19,611,657 		JBrowse link
G Setd9-ps1 SET domain containing, pseudogene 1 ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr 2:43,319,359...43,322,764 JBrowse link
G Setdb1 SET domain bifurcated histone lysine methyltransferase 1 severity ISO protein:increased expression:brain, cell nucleus (human) RGD PMID:23943221 RGD:9590166 NCBI chr 2:182,898,738...182,930,283
Ensembl chr 2:182,898,738...182,930,506 		JBrowse link
G Sf1 splicing factor 1 ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr 1:203,670,016...203,683,432
Ensembl chr 1:203,670,018...203,684,330 		JBrowse link
G Sh3gl1 SH3 domain containing GRB2 like 1, endophilin A2 disease_progression
severity		 ISO
IDA		 protein:increased expression:cytoplasm,white matter: RGD PMID:23050879 PMID:23050879 PMID:23050879 RGD:13463483, RGD:13463483, RGD:13463483 NCBI chr 9:842,285...869,753
Ensembl chr 9:842,288...869,716 		JBrowse link
G Sh3tc2 SH3 domain and tetratricopeptide repeats 2 ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr18:55,416,383...55,477,419
Ensembl chr18:55,416,413...55,483,083 		JBrowse link
G Sipa1 signal-induced proliferation-associated 1 ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr 1:202,938,532...202,950,672
Ensembl chr 1:202,938,580...202,950,591 		JBrowse link
G Sirt2 sirtuin 2 treatment IMP RGD PMID:23522375 RGD:9586035 NCBI chr 1:84,053,883...84,076,975
Ensembl chr 1:84,052,903...84,076,975 		JBrowse link
G Slc22a12 solute carrier family 22 member 12 ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr 1:203,845,039...203,852,496
Ensembl chr 1:203,845,048...203,853,555 		JBrowse link
G Slc25a45 solute carrier family 25, member 45 ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr 1:203,166,362...203,174,473
Ensembl chr 1:203,166,683...203,174,473 		JBrowse link
G Slc39a11 solute carrier family 39, member 11 ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr10:98,275,958...98,697,042
Ensembl chr10:98,275,960...98,611,295 		JBrowse link
G Slc44a1 solute carrier family 44 member 1 ISO DNA:gene fusion: : RGD PMID:26671581 RGD:11087038 NCBI chr 5:68,061,941...68,241,912
Ensembl chr 5:68,063,618...68,241,909 		JBrowse link
G Slc5a5 solute carrier family 5 member 5 ISO CTD Direct Evidence: therapeutic CTD PMID:12489024 NCBI chr16:18,546,709...18,556,698
Ensembl chr16:18,546,709...18,556,697 		JBrowse link
G Slc6a3 solute carrier family 6 member 3 IEP protein:decreased expression RGD PMID:14698456 RGD:1625668 NCBI chr 1:29,709,443...29,750,413
Ensembl chr 1:29,709,443...29,750,413 		JBrowse link
G Slc7a5 solute carrier family 7 member 5 ameliorates IMP RGD PMID:16496379 RGD:151361115 NCBI chr19:49,935,220...49,963,823
Ensembl chr19:49,935,220...49,963,823 		JBrowse link
G Snx15 sorting nexin 15 ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr 1:203,417,029...203,426,173
Ensembl chr 1:203,417,029...203,426,247 		JBrowse link
G Sod1 superoxide dismutase 1 ISO CTD Direct Evidence: therapeutic CTD PMID:11861405 NCBI chr11:29,456,673...29,462,249
Ensembl chr11:29,456,558...29,462,249 		JBrowse link
G Sox6 SRY-box transcription factor 6 ISO RGD PMID:15696967 RGD:1580007 NCBI chr 1:169,723,306...170,334,846
Ensembl chr 1:169,729,194...170,277,386 		JBrowse link
G Sphk1 sphingosine kinase 1 IEP protein:increased expression:endothelial cell (rat) RGD PMID:17316399 RGD:2311379 NCBI chr10:101,758,567...101,764,240
Ensembl chr10:101,758,711...101,764,240 		JBrowse link
G Spindoc spindlin interactor and repressor of chromatin binding ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr 1:204,541,647...204,565,109
Ensembl chr 1:204,542,335...204,564,144 		JBrowse link
G Spp1 secreted phosphoprotein 1 IDA
ISO		 CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:16651633 PMID:16651633 RGD:1581321 NCBI chr14:5,308,885...5,315,120
Ensembl chr14:5,308,885...5,315,162 		JBrowse link
G Spry3 sprouty RTK signaling antagonist 3 ISO ClinVar Annotator: match by term: Brainstem glioma ClinVar NCBI chr12:16,663,188...16,673,124
Ensembl chr12:16,663,389...16,672,531 		JBrowse link
G St6gal1 ST6 beta-galactoside alpha-2,6-sialyltransferase 1 treatment IDA RGD PMID:11559557 RGD:10043143 NCBI chr11:77,526,837...77,653,474
Ensembl chr11:77,526,837...77,653,310 		JBrowse link
G Stip1 stress-induced phosphoprotein 1 ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr 1:204,209,433...204,228,452
Ensembl chr 1:204,178,932...204,228,476 		JBrowse link
G Stmn1 stathmin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17440165 NCBI chr 5:146,680,757...146,687,154
Ensembl chr 5:146,681,436...146,687,154 		JBrowse link
G Suv39h1 SUV39H1 histone lysine methyltransferase ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr  X:14,421,028...14,433,993
Ensembl chr  X:14,421,109...14,433,982 		JBrowse link
G Suv39h1-ps1 SUV39H1 histone lysine methyltransferase, pseudogene 1 ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr  X:141,792,589...141,795,257 JBrowse link
G Suz12 SUZ12 polycomb repressive complex 2 subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:25119042 NCBI chr10:64,967,035...65,012,916
Ensembl chr10:64,966,967...65,012,738 		JBrowse link
G Syne1 spectrin repeat containing nuclear envelope protein 1 ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr 1:41,512,146...41,983,382
Ensembl chr 1:41,512,030...41,983,322 		JBrowse link
G Syvn1 synoviolin 1 ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr 1:203,339,235...203,346,137
Ensembl chr 1:203,339,619...203,346,152 		JBrowse link
G Tasor transcription activation suppressor ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr16:2,606,807...2,669,902
Ensembl chr16:2,603,936...2,667,292 		JBrowse link
G Tert telomerase reverse transcriptase ISO CTD Direct Evidence: marker/mechanism CTD PMID:18021753 PMID:19578367 NCBI chr 1:29,637,213...29,659,561
Ensembl chr 1:29,637,506...29,659,561 		JBrowse link
G Tfrc transferrin receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:16904380 NCBI chr11:68,163,413...68,185,257
Ensembl chr11:68,163,413...68,185,257 		JBrowse link
G Tigd3 tigger transposable element derived 3 ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr 1:203,178,456...203,182,775
Ensembl chr 1:203,178,460...203,181,272 		JBrowse link
G Tm7sf2 transmembrane 7 superfamily member 2 ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr 1:203,355,930...203,360,287
Ensembl chr 1:203,355,931...203,360,270 		JBrowse link
G Tnc tenascin C IEP protein:increased expression:brain RGD PMID:16928692 RGD:4889612 NCBI chr 5:77,375,851...77,460,712
Ensembl chr 5:77,375,851...77,460,624 		JBrowse link
G Tnf tumor necrosis factor treatment ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:22199285 PMID:11810046 RGD:10450725 NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629 		JBrowse link
G Tnfsf10 TNF superfamily member 10 ISO CTD Direct Evidence: therapeutic CTD PMID:16820965 PMID:19229339 NCBI chr 2:110,199,835...110,227,239
Ensembl chr 2:110,207,916...110,225,135 		JBrowse link
G Top2a DNA topoisomerase II alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:18402387 NCBI chr10:83,945,731...83,976,874
Ensembl chr10:83,945,735...83,976,874 		JBrowse link
G Tp53 tumor protein p53 ISO ClinVar Annotator: match by term: Astrocytoma | ClinVar Annotator: match by term: Brainstem glioma | ClinVar Annotator: match by term: Ependymoma | ClinVar Annotator: match by term: Glioma susceptibility 1 | ClinVar Annotator: match by term: Glioma susceptibility 2
ClinVar Annotator: match by term: Astrocytoma | ClinVar Annotator: match by term: Brainstem glioma | ClinVar Annotator: match by term: Glioma susceptibility 1
ClinVar Annotator: match by term: Astrocytoma | ClinVar Annotator: match by term: Brainstem glioma | ClinVar Annotator: match by term: Ependymoma | ClinVar Annotator: match by term: Glioma susceptibility 1 | ClinVar Annotator: match by term: Glioma susceptibility 3
ClinVar Annotator: match by term: Astrocytoma | ClinVar Annotator: match by term: Brainstem glioma | ClinVar Annotator: match by term: Glioma susceptibility 1 | ClinVar Annotator: match by term: Glioma susceptibility 9
ClinVar Annotator: match by term: Astrocytoma | ClinVar Annotator: match by term: Brainstem glioma | ClinVar Annotator: match by term: Glioma susceptibility 1 | ClinVar Annotator: match by term: Malignant glioma
CTD Direct Evidence: marker/mechanism		 ClinVar
OMIM
CTD
RGD		 PMID:124622 PMID:1200021 PMID:1359493 PMID:1467311 PMID:1565143 More... RGD:2290571 NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524 		JBrowse link
G Traf3 Tnf receptor-associated factor 3 ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr 6:130,199,696...130,307,168
Ensembl chr 6:130,206,484...130,305,481 		JBrowse link
G Trim29 tripartite motif-containing 29 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30929997 NCBI chr 8:43,682,221...43,706,992
Ensembl chr 8:43,682,221...43,706,992 		JBrowse link
G Trmt112 tRNA methyltransferase activator subunit 11-2 ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr 1:204,103,298...204,104,151 JBrowse link
G Trpm1 transient receptor potential cation channel, subfamily M, member 1 ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr 1:117,718,896...117,835,434
Ensembl chr 1:117,718,896...117,834,605 		JBrowse link
G Trpt1 tRNA phosphotransferase 1 ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr 1:204,186,295...204,191,294
Ensembl chr 1:204,186,295...204,191,294 		JBrowse link
G Trpv4 transient receptor potential cation channel, subfamily V, member 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:33629929 NCBI chr12:41,938,533...41,977,517
Ensembl chr12:41,938,560...41,977,517 		JBrowse link
G Tsc1 TSC complex subunit 1 ISO ClinVar Annotator: match by term: Astrocytoma ClinVar PMID:25741868 NCBI chr 3:11,969,547...12,018,591
Ensembl chr 3:11,979,729...12,015,674 		JBrowse link
G Txnrd2 thioredoxin reductase 2 ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr11:82,519,996...82,568,156
Ensembl chr11:82,519,999...82,568,156 		JBrowse link
G Vbp1 VHL binding protein 1 ISO ClinVar Annotator: match by term: Ependymoma ClinVar
G Vegfb vascular endothelial growth factor B ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr 1:204,172,297...204,178,046
Ensembl chr 1:204,172,225...204,177,944 		JBrowse link
G Vps51 VPS51 subunit of GARP complex ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr 1:203,360,434...203,370,422
Ensembl chr 1:203,360,440...203,370,430 		JBrowse link
G Xaf1 XIAP associated factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28122345 NCBI chr10:56,917,378...56,929,791
Ensembl chr10:56,917,121...56,929,770 		JBrowse link
G Xbp1 X-box binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21138464 NCBI chr14:80,390,629...80,395,713
Ensembl chr14:80,390,643...80,395,693 		JBrowse link
G Xrcc1 X-ray repair cross complementing 1 susceptibility ISO CTD Direct Evidence: marker/mechanism
DNA:SNP:cd: p.Q399R (rs25487) (human)		 CTD
RGD		 PMID:25227852 PMID:23534771 RGD:401850601 NCBI chr 1:80,140,495...80,168,705
Ensembl chr 1:80,141,207...80,168,701 		JBrowse link
G Xrcc3 X-ray repair cross complementing 3 susceptibility ISO DNA:SNP:cd: p.T241M (rs861539) (Human) RGD PMID:23534771 RGD:401850601 NCBI chr 6:130,863,405...130,873,765
Ensembl chr 6:130,863,959...130,872,444 		JBrowse link
G Yeats4 YEATS domain containing 4 IEP RGD PMID:11521196 RGD:1598696 NCBI chr 7:52,858,313...52,865,454
Ensembl chr 7:52,858,305...52,865,635 		JBrowse link
G Zfpl1 zinc finger protein-like 1 ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr 1:203,374,500...203,378,518
Ensembl chr 1:203,374,504...203,378,487 		JBrowse link
G Zfta zinc finger translocation associated ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr 1:204,604,557...204,612,688
Ensembl chr 1:204,604,103...204,612,688 		JBrowse link
G Znhit2 zinc finger, HIT-type containing 2 ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr 1:203,354,297...203,355,578
Ensembl chr 1:203,354,138...203,355,636 		JBrowse link
G Znrd2 zinc ribbon domain containing 2 ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr 1:203,017,682...203,019,465
Ensembl chr 1:203,017,682...203,019,465 		JBrowse link
high-grade astrocytoma with piloid features term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pot1 protection of telomeres 1 ISO ClinVar Annotator: match by term: High-grade astrocytoma with piloid features ClinVar PMID:25741868 PMID:28492532 PMID:32155570 NCBI chr 4:54,205,330...54,263,137
Ensembl chr 4:54,205,332...54,263,042 		JBrowse link
Hirschsprung Disease Ganglioneuroblastoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Phox2b paired-like homeobox 2b ISO ClinVar Annotator: match by term: Hirschsprung disease ganglioneuroblastoma ClinVar PMID:11953745 PMID:12438263 PMID:15024693 PMID:15338462 PMID:17637745 More... NCBI chr14:41,066,012...41,069,202
Ensembl chr14:41,066,264...41,068,978 		JBrowse link
hypochondroplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgfr3 fibroblast growth factor receptor 3 ISO
ISS		 ClinVar Annotator: match by term: Hypochondroplasia
OMIM:146000
CTD Direct Evidence: marker/mechanism
DNA:mutation:cds:c.1988 A>C(p.K650T)(human)		 OMIM
ClinVar
MouseDO
CTD
RGD		 PMID:1908846 PMID:4697848 PMID:7647778 PMID:7649548 PMID:7670477 More... RGD:11568026 NCBI chr14:76,987,242...77,002,671
Ensembl chr14:76,987,993...77,003,341 		JBrowse link
IDH-mutant anaplastic astrocytoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atm ATM serine/threonine kinase ISO ClinVar Annotator: match by term: Astrocytoma IDH-mutant ClinVar PMID:19781682 PMID:25503501 PMID:25741868 PMID:28492532 PMID:28779002 NCBI chr 8:53,828,741...53,932,773
Ensembl chr 8:53,831,093...53,932,437 		JBrowse link
G C8h11orf65 similar to human chromosome 11 open reading frame 65 ISO ClinVar Annotator: match by term: Astrocytoma IDH-mutant ClinVar PMID:19781682 PMID:25503501 PMID:25741868 PMID:28492532 PMID:28779002 NCBI chr 8:53,796,033...53,825,277
Ensembl chr 8:53,796,366...53,824,748 		JBrowse link
G Epcam epithelial cell adhesion molecule ISO ClinVar Annotator: match by term: Astrocytoma IDH-mutant ClinVar PMID:25741868 NCBI chr 6:6,880,142...6,896,103
Ensembl chr 6:6,878,237...6,896,127 		JBrowse link
G Nf1 neurofibromin 1 ISO ClinVar Annotator: match by term: Astrocytoma IDH-mutant ClinVar PMID:25741868 PMID:28492532 NCBI chr10:64,306,027...64,539,112
Ensembl chr10:64,306,301...64,536,658 		JBrowse link
G Rad54l RAD54 like ISO ClinVar Annotator: match by term: Astrocytoma IDH-mutant ClinVar PMID:25741868 NCBI chr 5:129,575,431...129,605,100
Ensembl chr 5:129,575,378...129,605,070 		JBrowse link
idiopathic scoliosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adgrg6 adhesion G protein-coupled receptor G6 ISO
ISS		 CTD Direct Evidence: marker/mechanism CTD
MouseDO		 PMID:23666238 NCBI chr 1:8,812,889...8,954,239
Ensembl chr 1:8,812,904...8,954,123 		JBrowse link
G Celsr2 cadherin, EGF LAG seven-pass G-type receptor 2 ISO ClinVar Annotator: match by term: Idiopathic scoliosis ClinVar PMID:25741868 PMID:28492532 PMID:29240829 NCBI chr 2:196,029,206...196,053,848
Ensembl chr 2:196,029,434...196,053,845 		JBrowse link
G Chd7 chromodomain helicase DNA binding protein 7 ISO ClinVar Annotator: match by term: Scoliosis, isolated, susceptibility to, 3 ClinVar PMID:17436250 PMID:23883829 PMID:25741868 NCBI chr 5:21,812,007...21,995,358
Ensembl chr 5:21,812,070...21,995,358 		JBrowse link
G Greb1l GREB1 like retinoic acid receptor coactivator ISO ClinVar Annotator: match by term: Scoliosis, isolated, susceptibility to, 1 ClinVar PMID:25741868 NCBI chr18:1,392,330...1,629,483
Ensembl chr18:1,392,725...1,628,067 		JBrowse link
G Kif7 kinesin family member 7 ISO ClinVar Annotator: match by term: Scoliosis, isolated, susceptibility to, 1 ClinVar PMID:21552264 PMID:25741868 PMID:28492532 NCBI chr 1:133,639,487...133,658,539
Ensembl chr 1:133,640,065...133,658,576 		JBrowse link
G Mapk7 mitogen-activated protein kinase 7 ISO ClinVar Annotator: match by term: Scoliosis, isolated, susceptibility to, 1 ClinVar PMID:28714182 NCBI chr10:46,170,264...46,176,262
Ensembl chr10:46,170,167...46,176,267 		JBrowse link
G Mbtps1 membrane-bound transcription factor peptidase, site 1 ISS MouseDO NCBI chr19:47,561,598...47,612,769
Ensembl chr19:47,561,598...47,612,791 		JBrowse link
G Prmt5 protein arginine methyltransferase 5 ISS MouseDO NCBI chr15:27,968,893...27,978,291
Ensembl chr15:27,968,910...27,978,296 		JBrowse link
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 ISS MouseDO NCBI chr12:35,365,436...35,424,925
Ensembl chr12:35,383,144...35,424,925 		JBrowse link
G Runx3 RUNX family transcription factor 3 ISS MouseDO NCBI chr 5:147,360,587...147,419,161
Ensembl chr 5:147,360,994...147,419,156 		JBrowse link
infant-type hemispheric glioma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Brca1 BRCA1, DNA repair associated ISO ClinVar Annotator: match by term: Infant-type hemispheric glioma ClinVar PMID:9609997 PMID:19543972 PMID:21990134 PMID:21990165 PMID:24489791 More... NCBI chr10:86,417,441...86,477,762
Ensembl chr10:86,418,000...86,477,304 		JBrowse link
Intervertebral Disc Displacement term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Akt1 AKT serine/threonine kinase 1 disease_progression ISO RGD PMID:21590431 RGD:5509092 NCBI chr 6:131,713,716...131,735,319
Ensembl chr 6:131,713,720...131,733,921 		JBrowse link
G Apoa4 apolipoprotein A4 ISO protein:increased expression:cerebrospinal fluid (human) RGD PMID:16372267 RGD:5685665 NCBI chr 8:46,539,083...46,541,464
Ensembl chr 8:46,539,082...46,541,469 		JBrowse link
G Bdnf brain-derived neurotrophic factor IEP protein:increased expression:dorsal root ganglion: RGD PMID:14615047 RGD:8657329 NCBI chr 3:96,165,042...96,215,621
Ensembl chr 3:96,165,042...96,215,615 		JBrowse link
G Col11a1 collagen type XI alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:17999364 NCBI chr 2:201,820,715...202,013,853
Ensembl chr 2:201,820,715...202,013,853 		JBrowse link
G Ctsl cathepsin L IEP protein:increased expression:annulus fibrosus (rat) RGD PMID:15758467 RGD:2315595 NCBI chr17:764,370...770,533
Ensembl chr17:764,309...770,548 		JBrowse link
G Cx3cl1 C-X3-C motif chemokine ligand 1 IEP mRNA, protein:increased expression:spinal cord RGD PMID:21224760 RGD:4891907 NCBI chr19:10,227,337...10,237,826
Ensembl chr19:10,227,340...10,236,833 		JBrowse link
G Cx3cr1 C-X3-C motif chemokine receptor 1 IEP protein:increased expression:spinal cord RGD PMID:21224760 RGD:4891907 NCBI chr 8:119,785,726...119,799,431
Ensembl chr 8:119,782,595...119,800,014 		JBrowse link
G Gc GC, vitamin D binding protein ISO protein:increased expression:cerebrospinal fluid RGD PMID:16868893 RGD:5509883 NCBI chr14:18,632,146...18,667,563
Ensembl chr14:18,632,135...18,667,567 		JBrowse link
G Htr2a 5-hydroxytryptamine receptor 2A treatment IEP RGD PMID:25584948 RGD:401938625 NCBI chr15:49,950,035...50,022,188
Ensembl chr15:49,950,804...50,020,928 		JBrowse link
G Igf1 insulin-like growth factor 1 IMP RGD PMID:21037532 RGD:8549460 NCBI chr 7:22,282,895...22,361,972
Ensembl chr 7:22,282,930...22,359,296 		JBrowse link
G Il1rl1 interleukin 1 receptor-like 1 IEP protein:increased expression:spinal cord: RGD PMID:29329586 RGD:40400909 NCBI chr 9:42,661,694...42,727,266
Ensembl chr 9:42,697,192...42,727,256 		JBrowse link
G Il33 interleukin 33 IEP protein:increased expression:spinal cord: RGD PMID:29329586 RGD:40400909 NCBI chr 1:227,701,964...227,736,374
Ensembl chr 1:227,721,435...227,736,373 		JBrowse link
G Kmt2d lysine methyltransferase 2D severity ISO RGD PMID:32599142 RGD:155598599 NCBI chr 7:129,980,744...130,022,088
Ensembl chr 7:129,962,887...130,020,325 		JBrowse link
G Mir223 microRNA 223 disease_progression ISO RGD PMID:28460630 RGD:25823200 NCBI chr  X:61,141,887...61,141,996
Ensembl chr  X:61,141,887...61,141,996 		JBrowse link
G Tnf tumor necrosis factor IEP RGD PMID:24826482 RGD:10450584 NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629 		JBrowse link
G Tnfrsf1b TNF receptor superfamily member 1B ISO human protein in rat model RGD PMID:21057386 RGD:5131270 NCBI chr 5:157,070,642...157,104,216
Ensembl chr 5:157,070,642...157,104,206 		JBrowse link
G Vdr vitamin D receptor ISO GAD PMID:15118671 RGD:1331525 NCBI chr 7:128,987,981...129,037,677
Ensembl chr 7:128,987,981...129,037,677 		JBrowse link
Kahrizi syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Srd5a3 steroid 5 alpha-reductase 3 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Kahrizi syndrome | ClinVar Annotator: match by term: MENTAL RETARDATION, CATARACT, COLOBOMA, AND KYPHOSIS, AUTOSOMAL RECESSIVE		 OMIM
CTD
ClinVar		 PMID:18781183 PMID:20637498 PMID:20700148 PMID:20852264 PMID:22304929 More... NCBI chr14:32,046,408...32,060,796
Ensembl chr14:32,046,408...32,060,747 		JBrowse link
KBG syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acsf3 acyl-CoA synthetase family member 3 ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:28492532 PMID:31602316 PMID:31690835 NCBI chr19:50,835,116...50,875,557
Ensembl chr19:50,835,221...50,875,553 		JBrowse link
G Ankrd11 ankyrin repeat domain containing 11 ISO
ISS		 ClinVar Annotator: match by term: ANKRD11-related condition | ClinVar Annotator: match by term: KBG syndrome | ClinVar Annotator: match by term: Short stature, characteristic facies, macrodontia, mental retardation, and skeletal anomalies
OMIM:148050
CTD Direct Evidence: marker/mechanism
DNA:deletions, SNPs:CDS:multiple (human)
DNA:mutations:CDS:multiple (human)		 OMIM
ClinVar
MouseDO
CTD
RGD		 PMID:9536098 PMID:15378538 PMID:15523620 PMID:15955779 PMID:16199547 More... RGD:11068938, RGD:11086621 NCBI chr19:50,940,284...51,098,962
Ensembl chr19:50,940,299...51,098,962 		JBrowse link
G Aprt adenine phosphoribosyl transferase ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:28492532 PMID:31690835 NCBI chr19:50,626,201...50,628,491
Ensembl chr19:50,626,202...50,628,431 		JBrowse link
G Banp Btg3 associated nuclear protein ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:31690835 NCBI chr19:50,007,710...50,082,742
Ensembl chr19:50,007,881...50,082,738 		JBrowse link
G C19h16orf95 similar to human chromosome 16 open reading frame 95 ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:31690835 NCBI chr19:49,605,818...49,618,466
Ensembl chr19:49,605,818...49,618,702 		JBrowse link
G Car5a carbonic anhydrase 5A ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:31690835 NCBI chr19:49,973,092...50,002,948
Ensembl chr19:49,973,107...50,002,906 		JBrowse link
G Cbfa2t3 CBFA2/RUNX1 partner transcriptional co-repressor 3 ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:28492532 PMID:31690835 NCBI chr19:50,679,897...50,750,028
Ensembl chr19:50,680,729...50,749,610 		JBrowse link
G Cdh15 cadherin 15 ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:28492532 PMID:31602316 PMID:31690835 NCBI chr19:50,903,757...50,927,151
Ensembl chr19:50,903,638...50,927,105 		JBrowse link
G Cdk10 cyclin-dependent kinase 10 ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:28492532 PMID:31602316 NCBI chr19:51,260,012...51,273,009
Ensembl chr19:51,261,356...51,269,078 		JBrowse link
G Cdt1 chromatin licensing and DNA replication factor 1 ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:28492532 PMID:31690835 NCBI chr19:50,620,713...50,625,659
Ensembl chr19:50,620,713...50,625,659 		JBrowse link
G Chmp1a charged multivesicular body protein 1A ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:28492532 PMID:31602316 NCBI chr19:51,238,153...51,246,433
Ensembl chr19:51,238,160...51,246,436 		JBrowse link
G Cpne7 copine 7 ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:28492532 PMID:31602316 NCBI chr19:51,164,316...51,182,676
Ensembl chr19:51,166,034...51,182,677 		JBrowse link
G Ctu2 cytosolic thiouridylase subunit 2 ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:31690835 NCBI chr19:50,539,184...50,544,629
Ensembl chr19:50,539,352...50,544,623 		JBrowse link
G Cyba cytochrome b-245 alpha chain ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:31690835 NCBI chr19:50,487,598...50,495,669
Ensembl chr19:50,487,597...50,495,721 		JBrowse link
G Dpep1 dipeptidase 1 ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:28492532 PMID:31602316 NCBI chr19:51,209,831...51,237,004
Ensembl chr19:51,219,660...51,235,257 		JBrowse link
G Fanca FA complementation group A ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:28492532 PMID:31602316 NCBI chr19:51,304,126...51,362,586
Ensembl chr19:51,304,021...51,362,527 		JBrowse link
G Fbxo31 F-box protein 31 ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:31690835 NCBI chr19:49,624,813...49,656,052
Ensembl chr19:49,627,686...49,656,010 		JBrowse link
G Galns galactosamine (N-acetyl)-6-sulfatase ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:28492532 PMID:31690835 NCBI chr19:50,628,639...50,662,477
Ensembl chr19:50,628,552...50,662,246 		JBrowse link
G Il17c interleukin 17C ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:31690835 NCBI chr19:50,484,890...50,486,169
Ensembl chr19:50,484,890...50,486,169 		JBrowse link
G Jph3 junctophilin 3 ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:31690835 NCBI chr19:49,793,967...49,855,338
Ensembl chr19:49,793,092...49,855,338 		JBrowse link
G Kat6b lysine acetyltransferase 6B ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:25741868 NCBI chr15:2,638,885...2,811,977
Ensembl chr15:2,639,200...2,812,316 		JBrowse link
G Klhdc4 kelch domain containing 4 ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:31690835 NCBI chr19:49,860,975...49,894,027
Ensembl chr19:49,860,967...49,894,868 		JBrowse link
G Map1lc3b microtubule-associated protein 1 light chain 3 beta ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:31690835 NCBI chr19:49,665,795...49,673,655
Ensembl chr19:49,665,791...49,677,690 		JBrowse link
G Mvd mevalonate diphosphate decarboxylase ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:31690835 NCBI chr19:50,496,366...50,506,429
Ensembl chr19:50,496,367...50,507,971 		JBrowse link
G Pabpn1l PABPN1 like ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:28492532 PMID:31690835 NCBI chr19:50,669,965...50,673,409
Ensembl chr19:50,669,967...50,673,366 		JBrowse link
G Piezo1 piezo-type mechanosensitive ion channel component 1 ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:31690835 NCBI chr19:50,544,580...50,606,812
Ensembl chr19:50,544,582...50,606,501 		JBrowse link
G Rnf166 ring finger protein 166 ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:31690835 NCBI chr19:50,529,434...50,539,274
Ensembl chr19:50,529,434...50,539,274 		JBrowse link
G Rpl13 ribosomal protein L13 ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:28492532 PMID:31602316 NCBI chr19:51,153,990...51,156,541
Ensembl chr19:51,153,924...51,163,014 		JBrowse link
G Setd5 SET domain containing 5 ISO ClinVar Annotator: match by term: KBG syndrome ClinVar NCBI chr 4:146,217,172...146,294,896
Ensembl chr 4:146,217,180...146,294,894 		JBrowse link
G Slc7a5 solute carrier family 7 member 5 ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:31690835 NCBI chr19:49,935,220...49,963,823
Ensembl chr19:49,935,220...49,963,823 		JBrowse link
G Snai3 snail family transcriptional repressor 3 ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:31690835 NCBI chr19:50,516,771...50,529,295
Ensembl chr19:50,516,771...50,523,486 		JBrowse link
G Spata2L spermatogenesis associated 2-like ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:28492532 PMID:31602316 NCBI chr19:51,269,078...51,273,605
Ensembl chr19:51,269,078...51,273,510 		JBrowse link
G Spata33 spermatogenesis associated 33 ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:28492532 PMID:31602316 NCBI chr19:51,246,514...51,258,894
Ensembl chr19:51,246,514...51,258,894 		JBrowse link
G Tbx1 T-box transcription factor 1 ISO ClinVar Annotator: match by term: KBG syndrome ClinVar NCBI chr11:82,409,275...82,419,058
Ensembl chr11:82,409,275...82,418,380 		JBrowse link
G Trappc2l trafficking protein particle complex subunit 2L ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:25741868 PMID:26467025 PMID:28492532 PMID:31690835 NCBI chr19:50,662,507...50,666,193
Ensembl chr19:50,662,507...50,666,192 		JBrowse link
G Vps9d1 VPS9 domain containing 1 ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:28492532 PMID:31602316 NCBI chr19:51,276,998...51,290,726
Ensembl chr19:51,277,000...51,290,634 		JBrowse link
G Zc3h18 zinc finger CCCH-type containing 18 ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:31690835 NCBI chr19:50,434,864...50,479,855
Ensembl chr19:50,434,903...50,479,854 		JBrowse link
G Zcchc14 zinc finger CCHC-type containing 14 ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:31690835 NCBI chr19:49,674,185...49,718,004
Ensembl chr19:49,674,195...49,718,029 		JBrowse link
G Zfp26 zinc finger protein 26 ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:28492532 PMID:31602316 PMID:31690835 NCBI chr 8:18,959,656...18,985,647
Ensembl chr 8:18,965,271...18,988,325 		JBrowse link
G Zfp276 zinc finger protein (C2H2 type) 276 ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:28492532 PMID:31602316 NCBI chr19:51,291,005...51,304,240
Ensembl chr19:51,290,777...51,304,049 		JBrowse link
G Zfp469 zinc finger protein 469 ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:31690835 NCBI chr19:50,282,337...50,324,010 JBrowse link
G Zfpm1 zinc finger protein, multitype 1 ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:31690835 NCBI chr19:50,334,352...50,391,029
Ensembl chr19:50,334,682...50,390,591 		JBrowse link
Klippel-Feil syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gdf6 growth differentiation factor 6 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: CERVICAL VERTEBRAL FUSION, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Klippel-Feil syndrome		 CTD
ClinVar		 PMID:18425797 PMID:19129173 PMID:23307924 PMID:24033266 PMID:25741868 More... NCBI chr 5:22,996,246...23,012,567
Ensembl chr 5:22,996,246...23,012,567 		JBrowse link
G Meox1 mesenchyme homeobox 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr10:86,818,450...86,837,563
Ensembl chr10:86,818,478...86,837,660 		JBrowse link
G Myo18b myosin XVIIIb ISO ClinVar Annotator: match by term: Klippel-Feil syndrome ClinVar PMID:25741868 NCBI chr12:43,747,003...43,953,694
Ensembl chr12:43,747,010...43,953,695 		JBrowse link
Klippel-Feil syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cfap418 cilia and flagella associated protein 418 ISO ClinVar Annotator: match by term: Klippel-Feil syndrome 1, autosomal dominant ClinVar PMID:24442880 PMID:28492532 NCBI chr 5:23,996,395...24,015,609
Ensembl chr 5:23,996,718...24,015,605 		JBrowse link
G Gdf6 growth differentiation factor 6 ISO ClinVar Annotator: match by term: Klippel-Feil syndrome 1, autosomal dominant OMIM
ClinVar		 PMID:9129173 PMID:18425797 PMID:19129173 PMID:19864492 PMID:20057906 More... NCBI chr 5:22,996,246...23,012,567
Ensembl chr 5:22,996,246...23,012,567 		JBrowse link
G Lrrk2 leucine-rich repeat kinase 2 ISO ClinVar Annotator: match by term: Klippel-Feil syndrome 1, autosomal dominant ClinVar PMID:18412265 PMID:18688798 PMID:18716801 PMID:18781329 PMID:19699188 More... NCBI chr 7:122,826,696...122,987,711
Ensembl chr 7:122,826,696...122,987,703 		JBrowse link
G Mterf3 mitochondrial transcription termination factor 3 ISO ClinVar Annotator: match by term: Klippel-Feil syndrome 1, autosomal dominant ClinVar PMID:24442880 PMID:28492532 NCBI chr 7:63,826,418...63,844,747
Ensembl chr 7:63,826,427...63,844,658 		JBrowse link
G Ndufaf6 NADH:ubiquinone oxidoreductase complex assembly factor 6 ISO ClinVar Annotator: match by term: Klippel-Feil syndrome 1, autosomal dominant ClinVar PMID:24442880 PMID:28492532 NCBI chr 5:24,147,712...24,171,981
Ensembl chr 5:24,147,735...24,171,951 		JBrowse link
G Plekhf2 pleckstrin homology and FYVE domain containing 2 ISO ClinVar Annotator: match by term: Klippel-Feil syndrome 1, autosomal dominant ClinVar PMID:24442880 PMID:28492532 NCBI chr 5:24,091,077...24,106,758
Ensembl chr 5:24,090,688...24,106,601 		JBrowse link
G Ptdss1 phosphatidylserine synthase 1 ISO ClinVar Annotator: match by term: Klippel-Feil syndrome 1, autosomal dominant ClinVar PMID:24442880 PMID:28492532 NCBI chr 7:63,845,017...63,906,791
Ensembl chr 7:63,844,268...63,906,791 		JBrowse link
G Uqcrb ubiquinol-cytochrome c reductase binding protein ISO ClinVar Annotator: match by term: Klippel-Feil syndrome 1, autosomal dominant ClinVar PMID:24442880 PMID:28492532 NCBI chr 7:63,814,784...63,820,150
Ensembl chr 7:63,814,797...63,820,150 		JBrowse link
Klippel-Feil syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Meox1 mesenchyme homeobox 1 ISO ClinVar Annotator: match by term: Klippel-Feil syndrome 2, autosomal recessive OMIM
ClinVar		 PMID:23290072 PMID:24073994 PMID:25741868 NCBI chr10:86,818,450...86,837,563
Ensembl chr10:86,818,478...86,837,660 		JBrowse link
G Ripply2 ripply transcriptional repressor 2 ISO ClinVar Annotator: match by term: Klippel-Feil syndrome 2, autosomal recessive ClinVar PMID:25343988 PMID:26238661 NCBI chr 8:87,974,444...87,979,002
Ensembl chr 8:87,974,776...87,978,969 		JBrowse link
Klippel-Feil syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acsm4 acyl-CoA synthetase medium-chain family member 4 ISO ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant ClinVar PMID:28492532 NCBI chr 1:174,053,931...174,078,345
Ensembl chr 1:174,053,931...174,078,341 		JBrowse link
G Aicda activation-induced cytidine deaminase ISO ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant ClinVar PMID:28492532 NCBI chr 4:155,774,132...155,783,972
Ensembl chr 4:155,774,132...155,783,972 		JBrowse link
G Apobec1 apolipoprotein B mRNA editing enzyme catalytic subunit 1 ISO ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant ClinVar PMID:28492532 NCBI chr 4:155,800,030...155,828,515
Ensembl chr 4:155,800,887...155,827,390 		JBrowse link
G Atn1 atrophin 1 ISO ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant ClinVar PMID:28492532 NCBI chr 4:157,554,287...157,568,092
Ensembl chr 4:157,551,276...157,568,132 		JBrowse link
G C1r complement C1r ISO ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant ClinVar PMID:28492532 NCBI chr 4:157,412,718...157,423,483
Ensembl chr 4:157,412,692...157,423,484 		JBrowse link
G C1rl complement C1r subcomponent like ISO ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant ClinVar PMID:28492532 NCBI chr 4:157,394,183...157,410,771
Ensembl chr 4:157,394,200...157,410,134 		JBrowse link
G C1s complement C1s ISO ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant ClinVar PMID:28492532 NCBI chr 4:157,430,249...157,442,438
Ensembl chr 4:157,430,117...157,442,303 		JBrowse link
G C3ar1 complement C3a receptor 1 ISO ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant ClinVar PMID:28492532 NCBI chr 4:156,074,747...156,084,680
Ensembl chr 4:156,075,389...156,084,701 		JBrowse link
G Cd163 CD163 molecule ISO ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant ClinVar PMID:28492532 NCBI chr 4:157,085,080...157,118,470
Ensembl chr 4:157,085,093...157,117,878 		JBrowse link
G Cdca3 cell division cycle associated 3 ISO ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant ClinVar PMID:28492532 NCBI chr 4:157,634,775...157,638,799
Ensembl chr 4:157,634,928...157,638,799 		JBrowse link
G Clec4a1 C-type lectin domain family 4, member A1 ISO ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant ClinVar PMID:28492532 NCBI chr 4:156,173,894...156,186,009
Ensembl chr 4:156,173,894...156,186,008 		JBrowse link
G Clec4a3 C-type lectin domain family 4, member A3 ISO ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant ClinVar PMID:28492532 NCBI chr 4:156,214,030...156,224,818
Ensembl chr 4:156,214,718...156,224,817 		JBrowse link
G Clec4b2 C-type lectin domain family 4, member B2 ISO ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant ClinVar PMID:28492532 NCBI chr 4:156,462,742...156,486,240
Ensembl chr 4:156,462,742...156,486,240 		JBrowse link
G Clec4d C-type lectin domain family 4, member D ISO ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant ClinVar PMID:28492532 NCBI chr 4:156,589,591...156,599,279
Ensembl chr 4:156,589,792...156,598,848 		JBrowse link
G Clec4e C-type lectin domain family 4, member E ISO ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant ClinVar PMID:28492532 NCBI chr 4:156,606,927...156,612,911
Ensembl chr 4:156,607,614...156,612,767 		JBrowse link
G Clec6a-ps1 C-type lectin domain family 6, member A, pseudogene 1 ISO ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant ClinVar PMID:28492532 NCBI chr 4:156,539,408...156,559,032
Ensembl chr 4:156,539,408...156,558,605
Ensembl chr 4:156,539,408...156,558,605 		JBrowse link
G Clstn3 calsyntenin 3 ISO ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant ClinVar PMID:28492532 NCBI chr 4:157,331,494...157,364,769
Ensembl chr 4:157,331,494...157,364,769 		JBrowse link
G Dppa3 developmental pluripotency-associated 3 ISO ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant ClinVar PMID:28492532 NCBI chr 4:155,851,461...155,854,845
Ensembl chr 4:155,815,296...155,854,861
Ensembl chr 5:155,815,296...155,854,861 		JBrowse link
G Emg1 EMG1 N1-specific pseudouridine methyltransferase ISO ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant ClinVar PMID:28492532 NCBI chr 4:157,509,258...157,517,540
Ensembl chr 4:157,509,277...157,517,540 		JBrowse link
G Eno2 enolase 2 ISO ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant ClinVar PMID:28492532 NCBI chr 4:157,572,085...157,580,971
Ensembl chr 4:157,572,088...157,580,980 		JBrowse link
G Fam90a1a family with sequence similarity 90 member A1A ISO ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant ClinVar PMID:28492532 NCBI chr16:70,098,439...70,106,147
Ensembl chr16:70,098,740...70,101,241 		JBrowse link
G Foxj2 forkhead box J2 ISO ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant ClinVar PMID:28492532 NCBI chr 4:156,047,043...156,073,540
Ensembl chr 4:156,046,969...156,073,518 		JBrowse link
G Gdf3 growth differentiation factor 3 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant		 OMIM
CTD
ClinVar		 PMID:19864492 PMID:25741868 PMID:28492532 PMID:29735971 NCBI chr 4:155,831,572...155,835,953
Ensembl chr 4:155,830,909...155,835,937 		JBrowse link
G Gnb3 G protein subunit beta 3 ISO ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant ClinVar PMID:28492532 NCBI chr 4:157,639,468...157,645,171
Ensembl chr 4:157,639,469...157,645,173 		JBrowse link
G Grcc10 gene rich cluster, C10 gene ISO ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant ClinVar PMID:28492532 NCBI chr 4:157,551,276...157,552,924 JBrowse link
G Lpcat3 lysophosphatidylcholine acyltransferase 3 ISO ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant ClinVar PMID:28492532 NCBI chr 4:157,468,397...157,509,889
Ensembl chr 4:157,468,290...157,509,880 		JBrowse link
G Lrrc23 leucine rich repeat containing 23 ISO ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant ClinVar PMID:28492532 NCBI chr 4:157,581,285...157,592,188
Ensembl chr 4:157,581,291...157,591,860 		JBrowse link
G Mfap5 microfibril associated protein 5 ISO ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant ClinVar PMID:28492532 NCBI chr 4:155,727,925...155,750,458
Ensembl chr 4:155,727,925...155,750,458 		JBrowse link
G Mir141 microRNA 141 ISO ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant ClinVar PMID:28492532 NCBI chr 4:157,523,239...157,523,332
Ensembl chr 4:157,523,239...157,523,332 		JBrowse link
G Mir200c microRNA 200c ISO ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant ClinVar PMID:28492532 NCBI chr 4:157,523,679...157,523,747 JBrowse link
G Nanog Nanog homeobox ISO ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant ClinVar PMID:28492532 NCBI chr 4:155,943,737...155,951,116
Ensembl chr 4:155,943,737...155,951,116 		JBrowse link
G Necap1 NECAP endocytosis associated 1 ISO ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant ClinVar PMID:28492532 NCBI chr 4:156,103,935...156,119,068
Ensembl chr 4:156,103,988...156,119,068 		JBrowse link
G P3h3 prolyl 3-hydroxylase 3 ISO ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant ClinVar PMID:28492532 NCBI chr 4:157,646,242...157,662,035
Ensembl chr 4:157,646,243...157,662,035 		JBrowse link
G Pex5 peroxisomal biogenesis factor 5 ISO ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant ClinVar PMID:28492532 NCBI chr 4:157,270,671...157,296,432
Ensembl chr 4:157,270,672...157,296,431 		JBrowse link
G Phb2 prohibitin 2 ISO ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant ClinVar PMID:28492532 NCBI chr 4:157,517,662...157,522,268
Ensembl chr 4:157,517,577...157,522,272 		JBrowse link
G Ptpn6 protein tyrosine phosphatase, non-receptor type 6 ISO ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant ClinVar PMID:28492532 NCBI chr 4:157,526,034...157,550,783
Ensembl chr 4:157,526,035...157,550,984 		JBrowse link
G Rimklb ribosomal modification protein rimK-like family member B ISO ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant ClinVar PMID:28492532 NCBI chr 4:155,664,392...155,706,888
Ensembl chr 4:155,664,375...155,706,711 		JBrowse link
G Slc2a3 solute carrier family 2 member 3 ISO ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant ClinVar PMID:28492532 NCBI chr 4:155,960,944...156,026,000
Ensembl chr 4:155,960,946...156,025,472 		JBrowse link
G Spsb2 splA/ryanodine receptor domain and SOCS box containing 2 ISO ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant ClinVar PMID:28492532 NCBI chr 4:157,613,404...157,615,293
Ensembl chr 4:157,613,401...157,615,284 		JBrowse link
G Tpi1 triosephosphate isomerase 1 ISO ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant ClinVar PMID:28492532 NCBI chr 4:157,615,283...157,618,813
Ensembl chr 4:157,615,386...157,619,541 		JBrowse link
G Usp5 ubiquitin specific peptidase 5 ISO ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant ClinVar PMID:28492532 NCBI chr 4:157,619,663...157,634,681
Ensembl chr 4:157,619,643...157,634,711 		JBrowse link
Klippel-Feil syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myo18b myosin XVIIIb ISO ClinVar Annotator: match by term: Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism | ClinVar Annotator: match by term: Klippel-feil syndrome 4, autosomal recessive, with nemaline myopathy and facial dysmorphism | ClinVar Annotator: match by term: MYO18B-related condition
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:25741868 PMID:25748484 More... NCBI chr12:43,747,003...43,953,694
Ensembl chr12:43,747,010...43,953,695 		JBrowse link
Kyphoscoliosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hoxa11 homeobox A11 IEP mRNA:decreased expression:verterbra RGD PMID:18327665 RGD:11354896 NCBI chr 4:81,342,527...81,346,189
Ensembl chr 4:81,342,528...81,346,232 		JBrowse link
G Hoxc10 homeo box C10 IEP mRNA:decreased expression:verterbra RGD PMID:18327665 RGD:11354896 NCBI chr 7:134,103,741...134,108,966
Ensembl chr 7:134,103,643...134,108,966 		JBrowse link
G Hoxd10 homeo box D10 IEP mRNA:decreased expression:verterbra RGD PMID:18327665 RGD:11354896 NCBI chr 3:59,594,516...59,597,725
Ensembl chr 3:59,594,516...59,597,725 		JBrowse link
G Hoxd11 homeobox D11 IEP mRNA:decreased expression:verterbra RGD PMID:18327665 RGD:11354896 NCBI chr 3:59,584,840...59,587,257
Ensembl chr 3:59,585,039...59,586,783 		JBrowse link
kyphosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Elp1 elongator acetyltransferase complex subunit 1 ISO RGD PMID:11097445 RGD:5129159 NCBI chr 5:71,453,338...71,505,833
Ensembl chr 5:71,456,310...71,505,762 		JBrowse link
G Fkbp10 FKBP prolyl isomerase 10 ISO ClinVar Annotator: match by term: Kyphosis ClinVar PMID:20362275 PMID:20839288 PMID:21567934 PMID:22689593 PMID:22949511 More... NCBI chr10:85,345,434...85,357,998
Ensembl chr10:85,346,126...85,427,330 		JBrowse link
G Ltbp3 latent transforming growth factor beta binding protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11790802 NCBI chr 1:203,029,412...203,045,975
Ensembl chr 1:203,029,877...203,045,975 		JBrowse link
G Parp1 poly (ADP-ribose) polymerase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20561897 NCBI chr13:92,307,593...92,339,406
Ensembl chr13:92,307,586...92,339,404 		JBrowse link
G Plod1 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15666309 NCBI chr 5:158,340,674...158,367,581
Ensembl chr 5:158,340,490...158,367,620 		JBrowse link
G Slc26a2 solute carrier family 26 member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18925670 NCBI chr18:54,648,276...54,666,627
Ensembl chr18:54,652,951...54,666,626 		JBrowse link
G Slc39a13 solute carrier family 39 member 13 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18985159 NCBI chr 3:77,039,411...77,047,528
Ensembl chr 3:77,037,565...77,049,226 		JBrowse link
lethal congenital contracture syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gle1 GLE1 RNA export mediator ISO ClinVar Annotator: match by term: Lethal congenital contracture syndrome ClinVar NCBI chr 3:13,209,312...13,237,018
Ensembl chr 3:13,209,322...13,237,379 		JBrowse link
lethal congenital contracture syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gle1 GLE1 RNA export mediator ISO ClinVar Annotator: match by term: Lethal autosomal recessive syndrome of multiple congenital contractures | ClinVar Annotator: match by term: Lethal congenital contractural syndrome Finnish type | ClinVar Annotator: match by term: Lethal congenital contracture syndrome 1
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:7770128 PMID:16892327 PMID:18204449 PMID:24243016 PMID:24961629 More... NCBI chr 3:13,209,312...13,237,018
Ensembl chr 3:13,209,322...13,237,379 		JBrowse link
Lethal Congenital Contracture Syndrome 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nek9 NIMA-related kinase 9 ISO ClinVar Annotator: match by term: Lethal congenital contracture syndrome 10
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:25741868 PMID:26633546 PMID:26908619 NCBI chr 6:104,944,056...104,984,538
Ensembl chr 6:104,944,056...104,984,538 		JBrowse link
Lethal Congenital Contracture Syndrome 11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gldn gliomedin ISO ClinVar Annotator: match by term: GLDN-related condition | ClinVar Annotator: match by term: Lethal congenital contracture syndrome 11
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:25741868 PMID:27616481 PMID:28492532 PMID:28726266 PMID:31680123 More... NCBI chr 8:54,679,015...54,723,198
Ensembl chr 8:54,679,119...54,723,196 		JBrowse link
lethal congenital contracture syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Erbb3 erb-b2 receptor tyrosine kinase 3 ISO ClinVar Annotator: match by term: Lethal congenital contracture syndrome 2
CTD Direct Evidence: marker/mechanism		 ClinVar
OMIM
CTD		 PMID:17701904 PMID:25741868 NCBI chr 7:994,549...1,015,876
Ensembl chr 7:996,225...1,015,525 		JBrowse link
lethal congenital contracture syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pip5k1c phosphatidylinositol-4-phosphate 5-kinase type 1 gamma ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Lethal congenital contracture syndrome 3		 OMIM
CTD
ClinVar		 PMID:17701898 PMID:25741868 NCBI chr 7:8,397,406...8,426,030
Ensembl chr 7:8,397,406...8,425,988 		JBrowse link
lethal congenital contracture syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mybpc1 myosin binding protein C1 ISO ClinVar Annotator: match by term: Lethal congenital contracture syndrome 4
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:18414213 PMID:22610851 PMID:25741868 PMID:28492532 NCBI chr 7:22,930,350...23,015,981
Ensembl chr 7:22,930,350...23,015,957 		JBrowse link
Lethal Congenital Contracture Syndrome 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dnm2 dynamin 2 ISO ClinVar Annotator: match by term: Lethal congenital contracture syndrome 5
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:18414213 PMID:23092955 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 8:19,978,313...20,060,162
Ensembl chr 8:19,978,400...20,060,157 		JBrowse link
Lethal Congenital Contracture Syndrome 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Zbtb42 zinc finger and BTB domain containing 42 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Lethal congenital contracture syndrome 6		 OMIM
CTD
ClinVar		 PMID:25055871 PMID:25741868 NCBI chr 6:131,734,257...131,742,459
Ensembl chr 6:131,738,356...131,742,685 		JBrowse link
Lethal Congenital Contracture Syndrome 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cntnap1 contactin associated protein 1 ISO ClinVar Annotator: match by term: Lethal congenital contracture syndrome 7
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:24319099 PMID:25741868 PMID:27668699 PMID:27818385 PMID:28254648 More... NCBI chr10:86,109,850...86,125,612
Ensembl chr10:86,111,643...86,125,611 		JBrowse link
Lethal Congenital Contracture Syndrome 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adcy6 adenylate cyclase 6 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Lethal congenital contracture syndrome 8		 OMIM
CTD
ClinVar		 PMID:23806086 PMID:24088041 PMID:24319099 PMID:25741868 PMID:26257172 More... NCBI chr 7:129,742,827...129,763,922
Ensembl chr 7:129,742,838...129,763,754 		JBrowse link
G Spmip11 sperm microtubule inner protein 11 ISO ClinVar Annotator: match by term: Lethal congenital contracture syndrome 8 ClinVar PMID:24319099 NCBI chr 7:129,720,950...129,742,485
Ensembl chr 7:129,720,950...129,742,485 		JBrowse link
Lethal Congenital Contracture Syndrome 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adgrg6 adhesion G protein-coupled receptor G6 ISO ClinVar Annotator: match by term: Lethal congenital contracture syndrome 9
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:25741868 PMID:26004201 PMID:26752647 PMID:28492532 NCBI chr 1:8,812,889...8,954,239
Ensembl chr 1:8,812,904...8,954,123 		JBrowse link
Liberfarb Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pisd phosphatidylserine decarboxylase ISO ClinVar Annotator: match by term: Liberfarb syndrome | ClinVar Annotator: match by term: PISD-related mitochondrial disease OMIM
ClinVar		 PMID:3561949 PMID:25741868 PMID:28492532 PMID:30488656 PMID:30858161 More... NCBI chr14:77,941,927...77,991,021
Ensembl chr14:77,941,948...77,991,003 		JBrowse link
Lordosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acan aggrecan ISO RGD PMID:9192671 RGD:1300269 NCBI chr 1:132,981,582...133,044,416
Ensembl chr 1:132,981,582...133,043,627 		JBrowse link
Macrocephaly, Alopecia, Cutis Laxa, and Scoliosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rin2 Ras and Rab interactor 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Macrocephaly, alopecia, cutis laxa, and scoliosis | ClinVar Annotator: match by term: RIN2-related condition | ClinVar Annotator: match by term: TALL FOREHEAD, SPARSE HAIR, SKIN HYPEREXTENSIBILITY, AND SCOLIOSIS		 OMIM
CTD
ClinVar		 PMID:19631308 PMID:20424861 PMID:20954239 PMID:24449201 PMID:25741868 More... NCBI chr 3:133,086,858...133,303,604
Ensembl chr 3:133,086,749...133,303,604 		JBrowse link
Majeed Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Emilin2 elastin microfibril interfacer 2 ISO ClinVar Annotator: match by term: Majeed syndrome ClinVar PMID:15994876 PMID:23087183 PMID:28492532 NCBI chr 9:111,160,708...111,220,463
Ensembl chr 9:111,160,712...111,220,352 		JBrowse link
G Lpin2 lipin 2 ISO ClinVar Annotator: match by term: Majeed syndrome
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:2809904 PMID:9536098 PMID:10969284 PMID:11795677 PMID:15994876 More... NCBI chr 9:111,083,378...111,158,193
Ensembl chr 9:111,083,745...111,158,193 		JBrowse link
G Myl12a myosin light chain 12A ISO ClinVar Annotator: match by term: Majeed syndrome ClinVar PMID:28492532 NCBI chr 9:110,891,970...110,899,655
Ensembl chr 9:110,873,959...110,916,580 		JBrowse link
G Myl12b myosin light chain 12B ISO ClinVar Annotator: match by term: Majeed syndrome ClinVar PMID:28492532 NCBI chr 9:110,873,855...110,888,187 JBrowse link
G Myom1 myomesin 1 ISO ClinVar Annotator: match by term: Majeed syndrome ClinVar PMID:28492532 NCBI chr 9:110,916,156...111,039,344
Ensembl chr 9:110,915,943...111,039,344 		JBrowse link
G Smchd1 structural maintenance of chromosomes flexible hinge domain containing 1 ISO ClinVar Annotator: match by term: Majeed syndrome ClinVar PMID:15994876 PMID:23087183 PMID:28492532 NCBI chr 9:111,243,445...111,387,272
Ensembl chr 9:111,247,702...111,349,665 		JBrowse link
G Tgif1 TGFB-induced factor homeobox 1 ISO ClinVar Annotator: match by term: Majeed syndrome ClinVar PMID:28492532 NCBI chr 9:110,748,094...110,757,714
Ensembl chr 9:110,720,921...110,757,802 		JBrowse link
malignant astrocytoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acvr1 activin A receptor type 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24705250 NCBI chr 3:42,978,558...43,097,892
Ensembl chr 3:42,978,561...43,098,241 		JBrowse link
G Adgrb1 adhesion G protein-coupled receptor B1 severity ISO RGD PMID:23761815 RGD:13831356 NCBI chr 7:106,404,827...106,476,902
Ensembl chr 7:106,404,958...106,476,902 		JBrowse link
G Akt1 AKT serine/threonine kinase 1 disease_progression ISO RGD PMID:19240976 RGD:5509079 NCBI chr 6:131,713,716...131,735,319
Ensembl chr 6:131,713,720...131,733,921 		JBrowse link
G Akt2 AKT serine/threonine kinase 2 severity ISO RGD PMID:20167810 RGD:13674163 NCBI chr 1:82,877,228...82,933,828
Ensembl chr 1:82,883,547...82,933,817 		JBrowse link
G Akt3 AKT serine/threonine kinase 3 severity ISO RGD PMID:20167810 RGD:13674163 NCBI chr13:88,943,708...89,225,831
Ensembl chr13:88,946,091...89,225,708 		JBrowse link
G Anxa1 annexin A1 ISO associated with Tuberous Sclerosis;mRNA:increased expression:brain RGD PMID:20133820 RGD:7421564 NCBI chr 1:217,861,175...217,877,205
Ensembl chr 1:217,861,175...217,877,343 		JBrowse link
G Ar androgen receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:24680642 NCBI chr  X:63,104,771...63,273,934
Ensembl chr  X:63,104,771...63,273,925 		JBrowse link
G Atrx ATRX, chromatin remodeler disease_progression
severity		 ISO RGD PMID:24810474 PMID:23765250 RGD:9586026, RGD:11040585 NCBI chr  X:70,850,981...70,997,330
Ensembl chr  X:70,850,981...70,997,330 		JBrowse link
G Braf B-Raf proto-oncogene, serine/threonine kinase onset ISO CTD Direct Evidence: marker/mechanism
DNA:rearrangement: :
DNA:mutation:cds:p.V600E(human)		 CTD
RGD		 PMID:23817572 PMID:19794125 PMID:25346165 RGD:11069832, RGD:11567238 NCBI chr 4:68,375,484...68,510,652
Ensembl chr 4:68,384,649...68,510,463 		JBrowse link
G Brd7 bromodomain containing 7 severity ISO protein:increased expression:brain: RGD PMID:24404152 RGD:9586441 NCBI chr19:18,708,792...18,737,497
Ensembl chr19:18,709,022...18,737,494 		JBrowse link
G Bst2 bone marrow stromal cell antigen 2 severity ISO RGD PMID:21565182 RGD:14398497 NCBI chr16:18,216,605...18,220,979
Ensembl chr16:18,217,407...18,220,979 		JBrowse link
G Cadm2 cell adhesion molecule 2 severity ISO protein:decreased expression:brain RGD PMID:30816549 RGD:19165125 NCBI chr11:4,548,367...5,525,420
Ensembl chr11:4,555,159...5,525,400 		JBrowse link
G Camk2g calcium/calmodulin-dependent protein kinase II gamma disease_progression ISO RGD PMID:12937144 RGD:13702480 NCBI chr15:3,504,017...3,563,050
Ensembl chr15:3,504,085...3,563,050 		JBrowse link
G Ccnd1 cyclin D1 severity ISO RGD PMID:10419598 RGD:13681931 NCBI chr 1:200,089,002...200,098,524
Ensembl chr 1:200,089,002...200,098,602 		JBrowse link
G Dll3 delta like canonical Notch ligand 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21127729 NCBI chr 1:83,562,011...83,570,008
Ensembl chr 1:83,562,014...83,569,750 		JBrowse link
G Dok2 docking protein 2 disease_progression ISO mRNA,protein:increased expression, increased phosphorylation:astrocytoma (human) RGD PMID:27975172 RGD:152177494 NCBI chr15:45,826,984...45,841,409
Ensembl chr15:45,827,398...45,841,402 		JBrowse link
G Esr1 estrogen receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24680642 NCBI chr 1:41,106,335...41,499,104
Ensembl chr 1:41,210,475...41,495,002 		JBrowse link
G Esr2 estrogen receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24680642 NCBI chr 6:94,858,438...94,909,630
Ensembl chr 6:94,809,547...94,908,919 		JBrowse link
G Fgfr1 Fibroblast growth factor receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23817572 NCBI chr16:66,491,930...66,547,161
Ensembl chr16:66,494,042...66,547,350 		JBrowse link
G Fubp1 far upstream element binding protein 1 ISO mRNA:increased expression:brain (human) RGD PMID:32481602 RGD:151361197 NCBI chr 2:241,159,481...241,186,591
Ensembl chr 2:241,159,512...241,186,602 		JBrowse link
G G3bp1 G3BP stress granule assembly factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27106762 NCBI chr10:39,586,864...39,620,268
Ensembl chr10:39,586,864...39,620,268 		JBrowse link
G Gstm1 glutathione S-transferase mu 1 severity ISO DNA:deletion: : RGD PMID:12241105 RGD:5490125 NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411 		JBrowse link
G Gstp1 glutathione S-transferase pi 1 susceptibility ISO DNA:polymorphism:exon:p.A114V (human) RGD PMID:12241105 RGD:5490125 NCBI chr 1:201,337,762...201,340,230
Ensembl chr 1:201,321,672...201,340,226 		JBrowse link
G Hey1 hes-related family bHLH transcription factor with YRPW motif 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21127729 NCBI chr 2:93,096,605...93,100,316
Ensembl chr 2:93,095,498...93,100,312 		JBrowse link
G Hey2 hes-related family bHLH transcription factor with YRPW motif 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21127729 NCBI chr 1:26,822,131...26,832,218
Ensembl chr 1:26,822,131...26,832,218 		JBrowse link
G Hgf hepatocyte growth factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:11223164 NCBI chr 4:18,673,736...18,745,582
Ensembl chr 4:18,677,101...18,745,409 		JBrowse link
G Hif1a hypoxia inducible factor 1 subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:15341671 NCBI chr 6:92,624,059...92,669,262
Ensembl chr 6:92,624,390...92,669,261 		JBrowse link
G Hras HRas proto-oncogene, GTPase ISS MouseDO NCBI chr 1:196,290,127...196,299,823
Ensembl chr 1:196,296,263...196,300,615 		JBrowse link
G Il16 interleukin 16 ISO protein:increased expression:brain RGD PMID:17221335 RGD:5024941 NCBI chr 1:137,617,702...137,718,022
Ensembl chr 1:137,617,944...137,718,130 		JBrowse link
G Kiaa1549 KIAA1549 homolog ISO CTD Direct Evidence: marker/mechanism CTD PMID:23817572 NCBI chr 4:66,840,674...66,968,407
Ensembl chr 4:66,760,162...66,968,436 		JBrowse link
G Kras KRAS proto-oncogene, GTPase susceptibility ISO sporadic pilocytic astrocytoma, OMIM:137800
DNA:mutation:cds:p.G12D(mouse)
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:23817572 PMID:16247081 PMID:24038521 RGD:1600476, RGD:13702858 NCBI chr 4:178,185,418...178,218,484 JBrowse link
G Lats1 large tumor suppressor kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17049657 NCBI chr 1:2,160,411...2,193,640
Ensembl chr 1:2,160,411...2,193,640 		JBrowse link
G Lats2 large tumor suppressor kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17049657 NCBI chr15:31,825,068...31,877,193
Ensembl chr15:31,825,092...31,877,220 		JBrowse link
G Map2k3 mitogen activated protein kinase kinase 3 ISO protein:increased expression, increased phosphorylation:brain RGD PMID:17406030 RGD:1641940 NCBI chr10:45,608,145...45,629,492
Ensembl chr10:45,607,163...45,629,492 		JBrowse link
G Met MET proto-oncogene, receptor tyrosine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:11223164 NCBI chr 4:45,790,456...45,898,139
Ensembl chr 4:45,790,791...45,897,876 		JBrowse link
G Mir155hg Mir155 host gene severity ISO RGD PMID:27764782 RGD:11571728 NCBI chr11:23,773,468...23,775,697 JBrowse link
G Mmp3 matrix metallopeptidase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20188714 NCBI chr 8:4,640,397...4,653,963
Ensembl chr 8:4,640,416...4,653,961 		JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20188714 NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120 		JBrowse link
G Mre11 MRE11 homolog, double strand break repair nuclease severity ISO mRNA:decreased expression:brain tumor (human) RGD PMID:17034947 RGD:2317736 NCBI chr 8:11,618,876...11,680,451
Ensembl chr 8:11,632,354...11,678,279 		JBrowse link
G Ncoa3 nuclear receptor coactivator 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24680642 NCBI chr 3:154,738,566...154,821,395
Ensembl chr 3:154,738,581...154,818,594 		JBrowse link
G Ndrg1 N-myc downstream regulated 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15341671 NCBI chr 7:98,684,487...98,725,869
Ensembl chr 7:98,684,487...98,725,880 		JBrowse link
G Nedd8 NEDD8 ubiquitin like modifier ISO RGD PMID:12533840 RGD:1549458 NCBI chr15:29,153,556...29,165,575
Ensembl chr15:29,153,556...29,166,160 		JBrowse link
G Nf1 neurofibromin 1 ISO protein:decreased expression:brain:
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:20176786 PMID:23817572 PMID:10973261 PMID:10931370 RGD:1302542, RGD:12743656 NCBI chr10:64,306,027...64,539,112
Ensembl chr10:64,306,301...64,536,658 		JBrowse link
G Notch1 notch receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21127729 NCBI chr 3:9,277,955...9,323,531
Ensembl chr 3:9,278,086...9,323,531 		JBrowse link
G Notch2 notch receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21127729 NCBI chr 2:185,610,594...185,744,088
Ensembl chr 2:185,610,589...185,744,088 		JBrowse link
G Ntrk2 neurotrophic receptor tyrosine kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23817572 NCBI chr17:5,558,992...5,870,299
Ensembl chr17:5,559,043...5,869,136 		JBrowse link
G Pcmt1 protein-L-isoaspartate (D-aspartate) O-methyltransferase 1 ISO protein:decreased expression,decreased activity:brain: RGD PMID:15857672 RGD:10448283 NCBI chr 1:2,111,756...2,160,354
Ensembl chr 1:2,111,763...2,159,201 		JBrowse link
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Astrocytic tumor		 CTD
ClinVar		 PMID:15985475 PMID:18470943 PMID:20186801 PMID:22781091 PMID:23624134 More... NCBI chr12:35,365,436...35,424,925
Ensembl chr12:35,383,144...35,424,925 		JBrowse link
G Slc7a5 solute carrier family 7 member 5 disease_progression ISO RGD PMID:16496379 RGD:151361115 NCBI chr19:49,935,220...49,963,823
Ensembl chr19:49,935,220...49,963,823 		JBrowse link
G Tial1 Tia1 cytotoxic granule-associated RNA binding protein-like 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27106762 NCBI chr 1:183,008,358...183,045,092
Ensembl chr 1:183,009,253...183,031,637 		JBrowse link
G Tp53 tumor protein p53 susceptibility ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Malignant astrocytoma
DNA:nonsense mutation:cds:		 CTD
ClinVar
RGD		 PMID:1349175 PMID:1565143 PMID:1565144 PMID:1591732 PMID:1631137 More... RGD:13702858 NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524 		JBrowse link
medulloblastoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ank3 ankyrin 3 ISO ClinVar Annotator: match by term: Classic medulloblastoma ClinVar NCBI chr20:18,602,267...19,225,831
Ensembl chr20:18,602,786...19,086,300 		JBrowse link
G Apc APC regulator of WNT signaling pathway ISO associated with Adenomatous Polyposis Coli;DNA:mutations: :
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:7661930 PMID:17238184 RGD:6484523 NCBI chr18:25,828,558...25,925,511
Ensembl chr18:25,864,222...25,922,696 		JBrowse link
G Arid1a AT-rich interaction domain 1A ISO ClinVar Annotator: match by term: Medulloblastoma ClinVar PMID:26822237 NCBI chr 5:145,908,173...145,981,552
Ensembl chr 5:145,908,181...145,985,564 		JBrowse link
G Arid1b AT-rich interaction domain 1B ISO ClinVar Annotator: match by term: Medulloblastoma ClinVar PMID:25741868 PMID:26822237 NCBI chr 1:45,567,991...45,923,644
Ensembl chr 1:45,563,623...45,923,493 		JBrowse link
G Atoh1 atonal bHLH transcription factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18347096 NCBI chr 4:93,912,068...93,914,163
Ensembl chr 4:93,912,068...93,914,154 		JBrowse link
G Bap1 Brca1 associated protein 1 ISO ClinVar Annotator: match by term: Medulloblastoma ClinVar PMID:24970262 PMID:25741868 PMID:26719535 PMID:28492532 PMID:29641532 More... NCBI chr16:6,446,709...6,455,535
Ensembl chr16:6,446,709...6,455,535 		JBrowse link
G Brca2 BRCA2, DNA repair associated ISO ClinVar Annotator: match by term: MEDULLOBLASTOMA PREDISPOSITION SYNDROME | ClinVar Annotator: match by term: Medulloblastoma
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD
RGD		 PMID:251866 PMID:278235 PMID:2200631 PMID:8589730 PMID:8673090 More... RGD:11038793 NCBI chr12:59,492...103,789
Ensembl chr12:59,819...100,567 		JBrowse link
G Brd2 bromodomain containing 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24231268 NCBI chr20:4,727,078...4,735,389
Ensembl chr20:4,728,151...4,735,388 		JBrowse link
G Brd3 bromodomain containing 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24231268 NCBI chr 3:10,773,163...10,829,675
Ensembl chr 3:10,775,272...10,829,577 		JBrowse link
G Brd4 bromodomain containing 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24231268 PMID:31594641 NCBI chr 7:11,216,446...11,296,029
Ensembl chr 7:11,216,446...11,295,539 		JBrowse link
G Ccnd1 cyclin D1 ISO RGD PMID:16943274 RGD:13681932 NCBI chr 1:200,089,002...200,098,524
Ensembl chr 1:200,089,002...200,098,602 		JBrowse link
G Ccne1 cyclin E1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19270706 NCBI chr 1:90,781,947...90,791,188
Ensembl chr 1:90,781,949...90,791,101 		JBrowse link
G Cdk6 cyclin-dependent kinase 6 disease_progression ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:19270706 PMID:23138228 PMID:16314645 RGD:13702096 NCBI chr 4:30,637,650...30,829,688
Ensembl chr 4:30,646,460...30,829,634 		JBrowse link
G Cdk9 cyclin-dependent kinase 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:31594641 NCBI chr 3:15,996,467...16,001,315
Ensembl chr 3:15,996,468...16,002,410 		JBrowse link
G Crebbp CREB binding protein ISO ClinVar Annotator: match by term: MEDULLOBLASTOMA PREDISPOSITION SYNDROME ClinVar PMID:21390126 PMID:21680795 PMID:21796119 PMID:22832583 PMID:23334668 More... NCBI chr10:11,335,551...11,461,888
Ensembl chr10:11,335,953...11,461,888 		JBrowse link
G Ctnnb1 catenin beta 1 ISO ClinVar Annotator: match by term: MEDULLOBLASTOMA PREDISPOSITION SYNDROME | ClinVar Annotator: match by term: Medulloblastoma
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9065402 PMID:9065403 PMID:9294210 PMID:9927029 PMID:10027390 More... NCBI chr 8:120,640,008...120,667,110
Ensembl chr 8:120,639,995...120,667,111 		JBrowse link
G Ddx3x DEAD-box helicase 3, X-linked ISO ClinVar Annotator: match by term: Medulloblastoma
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD		 PMID:26822237 PMID:27058758 NCBI chr  X:9,479,532...9,493,169
Ensembl chr  X:9,479,532...9,493,168 		JBrowse link
G Dicer1 dicer 1 ribonuclease III ISO ClinVar Annotator: match by term: Medulloblastoma ClinVar PMID:25741868 NCBI chr 6:123,627,529...123,692,278
Ensembl chr 6:123,631,250...123,693,965 		JBrowse link
G Dnmt1 DNA methyltransferase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19155313 NCBI chr 8:19,440,611...19,486,659
Ensembl chr 8:19,440,611...19,486,659 		JBrowse link
G Ehmt1 euchromatic histone lysine methyltransferase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19270706 NCBI chr 3:7,580,680...7,729,046
Ensembl chr 3:7,580,683...7,729,007 		JBrowse link
G Elp1 elongator acetyltransferase complex subunit 1 ISO ClinVar Annotator: match by term: MEDULLOBLASTOMA PREDISPOSITION SYNDROME | ClinVar Annotator: match by term: Medulloblastoma
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:11179008 PMID:11179021 PMID:12116234 PMID:16199547 More... NCBI chr 5:71,453,338...71,505,833
Ensembl chr 5:71,456,310...71,505,762 		JBrowse link
G Ep300 E1A binding protein p300 ISO ClinVar Annotator: match by term: Medulloblastoma ClinVar PMID:26619011 NCBI chr 7:113,108,476...113,178,529
Ensembl chr 7:113,106,247...113,136,088
Ensembl chr 7:113,106,247...113,136,088 		JBrowse link
G Erbb2 erb-b2 receptor tyrosine kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20168248 NCBI chr10:83,411,197...83,435,078
Ensembl chr10:83,411,313...83,435,078 		JBrowse link
G Esr2 estrogen receptor 2 ISO CTD Direct Evidence: therapeutic CTD PMID:21351254 NCBI chr 6:94,858,438...94,909,630
Ensembl chr 6:94,809,547...94,908,919 		JBrowse link
G Fbxw7 F-box and WD repeat domain containing 7 ISO ClinVar Annotator: match by term: MEDULLOBLASTOMA PREDISPOSITION SYNDROME ClinVar PMID:26619011 NCBI chr 2:170,149,706...170,311,536
Ensembl chr 2:170,149,694...170,309,941 		JBrowse link
G Fgfr1 Fibroblast growth factor receptor 1 ISO ClinVar Annotator: match by term: Medulloblastoma ClinVar PMID:10766980 PMID:23819449 PMID:25705862 PMID:25741868 PMID:26619011 More... NCBI chr16:66,491,930...66,547,161
Ensembl chr16:66,494,042...66,547,350 		JBrowse link
G Fli1 Fli-1 proto-oncogene, ETS transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:19270706 NCBI chr 8:30,831,422...30,950,468
Ensembl chr 8:30,832,753...30,950,433 		JBrowse link
G Foxo3 forkhead box O3 ISO ClinVar Annotator: match by term: Medulloblastoma ClinVar PMID:26822237 NCBI chr20:45,669,708...45,764,606
Ensembl chr20:45,672,995...45,764,561 		JBrowse link
G Gpr161 G protein-coupled receptor 161 ISO ClinVar Annotator: match by term: Medulloblastoma
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:23332756 PMID:23806086 PMID:25322266 PMID:25741868 PMID:28492532 More... NCBI chr13:77,578,257...77,623,661
Ensembl chr13:77,577,739...77,619,613 		JBrowse link
G Gstm1 glutathione S-transferase mu 1 ISO DNA:deletion: : RGD PMID:18952980 RGD:5490237 NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411 		JBrowse link
G Gstt1 glutathione S-transferase theta 1 ISO DNA:deletion: : RGD PMID:18952980 RGD:5490237 NCBI chr20:12,856,613...12,873,586
Ensembl chr20:12,856,669...12,873,585 		JBrowse link
G Hic1 HIC ZBTB transcriptional repressor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18347096 NCBI chr10:60,014,520...60,019,475
Ensembl chr10:60,011,528...60,019,475 		JBrowse link
G Idh1 isocitrate dehydrogenase (NADP(+)) 1 ISO ClinVar Annotator: match by term: MEDULLOBLASTOMA PREDISPOSITION SYNDROME | ClinVar Annotator: match by term: Medulloblastoma ClinVar PMID:18772396 PMID:19657110 PMID:19798509 PMID:19818334 PMID:20946881 More... NCBI chr 9:66,534,146...66,563,703
Ensembl chr 9:66,534,146...66,563,708 		JBrowse link
G Ifng interferon gamma ISS OMIM:155255 MouseDO NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375 		JBrowse link
G Irs2 insulin receptor substrate 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19270706 NCBI chr16:78,488,249...78,512,482
Ensembl chr16:78,485,045...78,512,482 		JBrowse link
G Kat6a lysine acetyltransferase 6A ISO CTD Direct Evidence: marker/mechanism CTD PMID:19270706 NCBI chr16:69,084,914...69,165,923
Ensembl chr16:69,084,914...69,163,606 		JBrowse link
G Kdm4b lysine demethylase 4B ISO mRNA:increased expression:brain (human)
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:19270706 PMID:19270706 RGD:9587481 NCBI chr 9:1,158,737...1,237,233
Ensembl chr 9:1,158,752...1,236,543 		JBrowse link
G Kdm4c lysine demethylase 4C ISO mRNA:increased expression:brain (human)
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:19270706 PMID:19270706 RGD:9587481 NCBI chr 5:88,100,710...88,306,821
Ensembl chr 5:88,100,733...88,306,818 		JBrowse link
G L3mbtl2 L3MBTL histone methyl-lysine binding protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19270706 NCBI chr 7:113,186,303...113,209,706
Ensembl chr 7:113,186,370...113,207,489 		JBrowse link
G L3mbtl3 L3MBTL histone methyl-lysine binding protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19270706 NCBI chr 1:18,988,763...19,089,247
Ensembl chr 1:18,990,618...19,089,263 		JBrowse link
G Mpl MPL proto-oncogene, thrombopoietin receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:19270706 NCBI chr 5:131,973,895...131,987,472
Ensembl chr 5:131,973,895...131,986,797 		JBrowse link
G Myc MYC proto-oncogene, bHLH transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:19270706 PMID:31694585 NCBI chr 7:93,593,705...93,598,633
Ensembl chr 7:93,593,705...93,598,630 		JBrowse link
G Mycl MYCL proto-oncogene, bHLH transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:19270706 NCBI chr 5:135,274,713...135,281,584
Ensembl chr 5:135,274,748...135,281,582 		JBrowse link
G Mycn MYCN proto-oncogene, bHLH transcription factor ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Medulloblastoma		 CTD
ClinVar		 PMID:19270706 PMID:26619011 NCBI chr 6:35,717,764...35,723,590
Ensembl chr 6:35,717,764...35,723,590 		JBrowse link
G Nono non-POU domain containing, octamer-binding ISO ClinVar Annotator: match by term: Medulloblastoma ClinVar PMID:25741868 PMID:26822237 NCBI chr  X:66,554,131...66,571,992
Ensembl chr  X:66,554,098...66,571,952 		JBrowse link
G Nras NRAS proto-oncogene, GTPase ISO ClinVar Annotator: match by term: MEDULLOBLASTOMA PREDISPOSITION SYNDROME ClinVar PMID:2407301 PMID:2674680 PMID:2989702 PMID:3102434 PMID:8120410 More... NCBI chr 2:190,582,885...190,593,509
Ensembl chr 2:190,582,918...190,591,626 		JBrowse link
G Otx2 orthodenticle homeobox 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19270706 NCBI chr15:21,942,233...21,953,034
Ensembl chr15:21,943,191...21,953,416 		JBrowse link
G Pdgfra platelet derived growth factor receptor alpha severity ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:19270706 PMID:25576913 RGD:13702904 NCBI chr14:33,005,838...33,054,347
Ensembl chr14:33,005,839...33,054,335 		JBrowse link
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha ISO ClinVar Annotator: match by term: Medulloblastoma | ClinVar Annotator: match by term: Medulloblastoma, somatic
ClinVar Annotator: match by term: MEDULLOBLASTOMA PREDISPOSITION SYNDROME
ClinVar Annotator: match by term: MEDULLOBLASTOMA PREDISPOSITION SYNDROME | ClinVar Annotator: match by term: Medulloblastoma		 ClinVar PMID:15016963 PMID:15254419 PMID:15520168 PMID:15608678 PMID:15647370 More... NCBI chr 2:115,175,275...115,249,034
Ensembl chr 2:115,174,984...115,249,032 		JBrowse link
G Pik3cg phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma ISO CTD Direct Evidence: marker/mechanism CTD PMID:21652733 NCBI chr 6:48,766,778...48,802,098
Ensembl chr 6:48,766,864...48,802,043 		JBrowse link
G Pramex1 PRAME like, X-linked 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16179254 NCBI chr  X:98,567,994...98,574,654
Ensembl chr  X:98,569,415...98,572,096 		JBrowse link
G Prkar1a protein kinase cAMP-dependent type I regulatory subunit alpha ISO ClinVar Annotator: match by term: Medulloblastoma ClinVar PMID:26822237 PMID:28492532 NCBI chr10:94,621,042...94,639,534
Ensembl chr10:94,620,039...94,639,041 		JBrowse link
G Prmt5 protein arginine methyltransferase 5 ISO CTD Direct Evidence: therapeutic CTD PMID:31694585 NCBI chr15:27,968,893...27,978,291
Ensembl chr15:27,968,910...27,978,296 		JBrowse link
G Ptch1 patched 1 ISO
ISS		 CTD Direct Evidence: marker/mechanism
OMIM:155255
ClinVar Annotator: match by term: Medulloblastoma		 CTD
MouseDO
ClinVar
RGD		 PMID:16301862 PMID:16419085 PMID:18347096 PMID:19155313 PMID:19213072 More... RGD:150523834 NCBI chr17:1,542,705...1,607,730
Ensembl chr17:1,542,877...1,607,333 		JBrowse link
G Ptch2 patched 2 ISO CTD Direct Evidence: marker/mechanism OMIM
CTD		 NCBI chr 5:130,571,956...130,592,506
Ensembl chr 5:130,572,312...130,592,405 		JBrowse link
G Rassf1 Ras association domain family member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21880625 NCBI chr 8:108,225,023...108,236,164
Ensembl chr 8:108,225,023...108,236,164 		JBrowse link
G Rb1 RB transcriptional corepressor 1 ISO ClinVar Annotator: match by term: Medulloblastoma ClinVar
RGD		 PMID:25741868 PMID:28492532 PMID:10783170 RGD:1302544 NCBI chr15:48,371,295...48,502,473
Ensembl chr15:48,371,296...48,502,302 		JBrowse link
G Ret ret proto-oncogene ISO ClinVar Annotator: match by term: MEDULLOBLASTOMA PREDISPOSITION SYNDROME ClinVar PMID:11436122 PMID:24033266 PMID:25741868 PMID:28492532 PMID:36900197 NCBI chr 4:151,325,969...151,368,176
Ensembl chr 4:151,326,431...151,368,176 		JBrowse link
G S100a10 S100 calcium binding protein A10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17579622 NCBI chr 2:179,221,012...179,229,659
Ensembl chr 2:179,220,887...179,229,661 		JBrowse link
G S100a4 S100 calcium-binding protein A4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17579622 NCBI chr 2:176,090,951...176,093,258
Ensembl chr 2:176,091,804...176,093,254 		JBrowse link
G S100a6 S100 calcium binding protein A6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17579622 NCBI chr 2:176,100,619...176,102,181
Ensembl chr 2:176,100,899...176,102,180 		JBrowse link
G Scg5 secretogranin V ISO CTD Direct Evidence: marker/mechanism CTD PMID:17334394 NCBI chr 3:100,544,101...100,588,558
Ensembl chr 3:100,544,099...100,588,463 		JBrowse link
G Scml2 Scm polycomb group protein like 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19270706 NCBI chr  X:33,523,179...33,677,672
Ensembl chr  X:33,524,530...33,652,742 		JBrowse link
G Sf3b2 splicing factor 3b, subunit 2 ISO ClinVar Annotator: match by term: MEDULLOBLASTOMA PREDISPOSITION SYNDROME ClinVar PMID:26619011 NCBI chr 1:202,570,423...202,590,774
Ensembl chr 1:202,570,423...202,590,759 		JBrowse link
G Skp2 S-phase kinase associated protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19270706 NCBI chr 2:58,161,226...58,189,293
Ensembl chr 2:58,161,229...58,189,338 		JBrowse link
G Smarca4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 ISO ClinVar Annotator: match by term: Medulloblastoma ClinVar PMID:23698369 PMID:26822237 PMID:26842758 PMID:28492532 NCBI chr 8:20,167,717...20,258,975
Ensembl chr 8:20,167,717...20,258,975 		JBrowse link
G Smo smoothened, frizzled class receptor treatment ISO
ISS		 ClinVar Annotator: match by term: Medulloblastoma
OMIM:155255		 ClinVar
MouseDO
RGD		 PMID:19726788 PMID:22679179 PMID:25759020 PMID:22084163 RGD:150521622 NCBI chr 4:58,343,626...58,373,823
Ensembl chr 4:58,343,529...58,373,829 		JBrowse link
G Smyd4 SET and MYND domain containing 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19270706 NCBI chr10:60,200,067...60,246,387
Ensembl chr10:60,200,114...60,246,387 		JBrowse link
G Stat3 signal transducer and activator of transcription 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19001435 NCBI chr10:85,811,206...85,863,057
Ensembl chr10:85,811,218...85,863,057 		JBrowse link
G Strada STE20 related adaptor alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:21652733 NCBI chr10:91,094,849...91,123,890
Ensembl chr10:91,094,687...91,123,830 		JBrowse link
G Sufu SUFU negative regulator of hedgehog signaling ISO
IGI		 ClinVar Annotator: match by term: MEDULLOBLASTOMA PREDISPOSITION SYNDROME | ClinVar Annotator: match by term: Medulloblastoma
CTD Direct Evidence: marker/mechanism		 ClinVar
OMIM
CTD
RGD		 PMID:12068298 PMID:17102621 PMID:19533801 PMID:19833601 PMID:21188540 More... RGD:1599191, RGD:150573693 NCBI chr 1:245,257,725...245,355,576
Ensembl chr 1:245,257,768...245,355,577 		JBrowse link
G Tp53 tumor protein p53 disease_progression ISO ClinVar Annotator: match by term: MEDULLOBLASTOMA PREDISPOSITION SYNDROME | ClinVar Annotator: match by term: Medulloblastoma
ClinVar Annotator: match by term: Medulloblastoma | ClinVar Annotator: match by term: Medulloblastoma, somatic
protein:increased expression:nucleus:		 ClinVar
RGD		 PMID:1359493 PMID:1565143 PMID:1565144 PMID:1631137 PMID:1644930 More... RGD:1302544, RGD:8547823 NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524 		JBrowse link
G Tsc2 TSC complex subunit 2 ISO DNA:polymorphism:intron RGD PMID:11603814 RGD:11072879 NCBI chr10:13,621,135...13,655,773
Ensembl chr10:13,621,136...13,655,951 		JBrowse link
G Tubb4a tubulin, beta 4A class IVa ISO ClinVar Annotator: match by term: Classic medulloblastoma ClinVar NCBI chr 9:1,917,841...1,925,286
Ensembl chr 9:1,917,845...1,925,291 		JBrowse link
G Vav1 vav guanine nucleotide exchange factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19270706 NCBI chr 9:2,161,985...2,209,951
Ensembl chr 9:2,157,900...2,208,937 		JBrowse link
G Wrn WRN RecQ like helicase ISO ClinVar Annotator: match by term: Medulloblastoma ClinVar PMID:8968742 PMID:9225981 PMID:16673358 PMID:16786514 PMID:20301687 More... NCBI chr16:58,763,517...58,898,604
Ensembl chr16:58,763,504...58,895,450 		JBrowse link
Megalencephaly-Polydactyly Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mycn MYCN proto-oncogene, bHLH transcription factor ISO ClinVar Annotator: match by term: Megalencephaly-polydactyly syndrome OMIM
ClinVar		 PMID:25741868 PMID:30573562 PMID:37710961 NCBI chr 6:35,717,764...35,723,590
Ensembl chr 6:35,717,764...35,723,590 		JBrowse link
melanoma and neural system tumor syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdkn2a cyclin-dependent kinase inhibitor 2A ISO ClinVar Annotator: match by term: Melanoma and neural system tumor syndrome | ClinVar Annotator: match by term: Melanoma astrocytoma syndrome
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:865368 PMID:2677576 PMID:5001868 PMID:7566978 PMID:7640518 More... NCBI chr 5:103,984,949...103,992,143
Ensembl chr 5:103,984,949...104,003,149 		JBrowse link
metatropic dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Trpv4 transient receptor potential cation channel, subfamily V, member 4 ISO ClinVar Annotator: match by term: Metatropic dwarfism | ClinVar Annotator: match by term: Metatropic dysplasia
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:4056805 PMID:6628444 PMID:8179305 PMID:14755468 PMID:17879966 More... NCBI chr12:41,938,533...41,977,517
Ensembl chr12:41,938,560...41,977,517 		JBrowse link
mixed glioma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rtel1 regulator of telomere elongation helicase 1 susceptibility ISO DNA:SNPs:multiple:multiple (human) RGD PMID:30462709 RGD:152977767 NCBI chr 3:168,427,247...168,465,349
Ensembl chr 3:168,419,579...168,465,348 		JBrowse link
neuroblastoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcb1a ATP binding cassette subfamily B member 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:8761367 NCBI chr 4:25,357,467...25,529,941
Ensembl chr 4:25,158,362...25,442,709 		JBrowse link
G Alk ALK receptor tyrosine kinase ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Neuroblastoma | ClinVar Annotator: match by term: Neuroblastoma Susceptibility		 CTD
ClinVar		 PMID:2124297 PMID:18724359 PMID:18923523 PMID:18923524 PMID:18923525 More... NCBI chr 6:22,879,653...23,599,636
Ensembl chr 6:22,880,625...23,598,034 		JBrowse link
G Alox5ap arachidonate 5-lipoxygenase activating protein ISO mRNA, protein:increased expression:neuroblastoma (human) RGD PMID:18591367 RGD:2313903 NCBI chr12:5,748,941...5,772,986
Ensembl chr12:5,748,944...5,772,986 		JBrowse link
G Arid1a AT-rich interaction domain 1A ISO CTD Direct Evidence: marker/mechanism
DNA:mutations,loss of heterozygosity: :		 CTD
RGD		 PMID:23202128 PMID:23202128 RGD:13439724 NCBI chr 5:145,908,173...145,981,552
Ensembl chr 5:145,908,181...145,985,564 		JBrowse link
G Arid1b AT-rich interaction domain 1B ISO CTD Direct Evidence: marker/mechanism
DNA:deletion,haploinsufficiency: :		 CTD
RGD		 PMID:23202128 PMID:23202128 RGD:13439724 NCBI chr 1:45,567,991...45,923,644
Ensembl chr 1:45,563,623...45,923,493 		JBrowse link
G Atrx ATRX, chromatin remodeler ISO CTD Direct Evidence: marker/mechanism CTD PMID:23334666 PMID:26523776 NCBI chr  X:70,850,981...70,997,330
Ensembl chr  X:70,850,981...70,997,330 		JBrowse link
G Aurka aurora kinase A ISO CTD Direct Evidence: marker/mechanism CTD PMID:22588779 NCBI chr 3:161,128,309...161,144,524
Ensembl chr 3:161,128,313...161,144,390 		JBrowse link
G Bard1 BRCA1 associated RING domain 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19412175 PMID:23334666 NCBI chr 9:72,616,070...72,694,553
Ensembl chr 9:72,623,155...72,694,265 		JBrowse link
G Bche butyrylcholinesterase ISO CTD Direct Evidence: marker/mechanism CTD PMID:2317787 NCBI chr 2:158,308,674...158,401,148
Ensembl chr 2:158,307,584...158,401,148 		JBrowse link
G Birc2 baculoviral IAP repeat-containing 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:34626302 NCBI chr 8:4,968,856...4,989,325
Ensembl chr 8:4,968,842...4,988,732 		JBrowse link
G Birc3 baculoviral IAP repeat-containing 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:34626302 NCBI chr 8:5,000,844...5,028,470
Ensembl chr 8:5,000,845...5,015,802 		JBrowse link
G Brca2 BRCA2, DNA repair associated ISO ClinVar Annotator: match by term: Neuroblastoma ClinVar PMID:16284991 PMID:19043619 PMID:20127978 PMID:21702907 PMID:22034289 More... NCBI chr12:59,492...103,789
Ensembl chr12:59,819...100,567 		JBrowse link
G Cd44 CD44 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:34626302 NCBI chr 3:89,155,850...89,244,615
Ensembl chr 3:89,157,058...89,244,620 		JBrowse link
G Cd55 CD55 molecule (Cromer blood group) IMP RGD PMID:10850450 RGD:2326181 NCBI chr13:41,857,242...41,885,966
Ensembl chr13:41,857,395...41,885,831 		JBrowse link
G Cdkn2a cyclin-dependent kinase inhibitor 2A treatment ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:15814359 PMID:24714808 RGD:10043806 NCBI chr 5:103,984,949...103,992,143
Ensembl chr 5:103,984,949...104,003,149 		JBrowse link
G Chaf1a chromatin assembly factor 1 subunit A disease_progression ISO mRNA:increased expression: : RGD PMID:24335960 PMID:24335960 RGD:9587458, RGD:9587458 NCBI chr 9:873,953...900,701
Ensembl chr 9:874,051...900,654 		JBrowse link
G Chd5 chromodomain helicase DNA binding protein 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26121086 NCBI chr 5:162,848,273...162,898,997
Ensembl chr 5:162,848,394...162,896,291 		JBrowse link
G Chd6 chromodomain helicase DNA binding protein 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18577749 NCBI chr 3:149,596,509...149,757,765
Ensembl chr 3:149,596,509...149,757,755 		JBrowse link
G Chek2 checkpoint kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23334666 NCBI chr12:45,788,823...45,821,382
Ensembl chr12:45,788,827...45,821,286 		JBrowse link
G Dbh dopamine beta-hydroxylase ISO CTD Direct Evidence: marker/mechanism CTD PMID:25174395 NCBI chr 3:10,488,260...10,505,245
Ensembl chr 3:10,488,260...10,505,248 		JBrowse link
G Dock8 dedicator of cytokinesis 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26121086 NCBI chr 1:222,649,309...222,842,474
Ensembl chr 1:222,649,309...222,842,474 		JBrowse link
G Esr1 estrogen receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27366082 NCBI chr 1:41,106,335...41,499,104
Ensembl chr 1:41,210,475...41,495,002 		JBrowse link
G Fanca FA complementation group A ISO ClinVar Annotator: match by term: Neuroblastoma ClinVar PMID:9536098 PMID:15059067 PMID:17576681 PMID:24584348 PMID:25741868 More... NCBI chr19:51,304,126...51,362,586
Ensembl chr19:51,304,021...51,362,527 		JBrowse link
G Fgfr1 Fibroblast growth factor receptor 1 ISO ClinVar Annotator: match by term: Neuroblastoma ClinVar PMID:10766980 PMID:23819449 PMID:25741868 PMID:26619011 PMID:26822237 More... NCBI chr16:66,491,930...66,547,161
Ensembl chr16:66,494,042...66,547,350 		JBrowse link
G Fgfr3 fibroblast growth factor receptor 3 ISO ClinVar Annotator: match by term: Neuroblastoma ClinVar PMID:26822237 PMID:28492532 NCBI chr14:76,987,242...77,002,671
Ensembl chr14:76,987,993...77,003,341 		JBrowse link
G Gata3 GATA binding protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30127528 NCBI chr17:68,643,760...68,666,000
Ensembl chr17:68,643,873...68,665,391 		JBrowse link
G Gnas GNAS complex locus ISO CTD Direct Evidence: marker/mechanism CTD PMID:20862257 NCBI chr 3:163,071,003...163,136,350
Ensembl chr 3:163,071,417...163,127,262
Ensembl chr 3:163,071,417...163,127,262 		JBrowse link
G Hace1 HECT domain and ankyrin repeat containing, E3 ubiquitin protein ligase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22941191 NCBI chr20:49,035,312...49,151,103
Ensembl chr20:49,035,648...49,151,103 		JBrowse link
G Hand2 heart and neural crest derivatives expressed 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30127528 NCBI chr16:32,917,448...32,920,791
Ensembl chr16:32,917,823...32,919,891 		JBrowse link
G Hgf hepatocyte growth factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:16051641 NCBI chr 4:18,673,736...18,745,582
Ensembl chr 4:18,677,101...18,745,409 		JBrowse link
G Hras HRas proto-oncogene, GTPase ISO CTD Direct Evidence: marker/mechanism CTD PMID:15814359 PMID:26121086 NCBI chr 1:196,290,127...196,299,823
Ensembl chr 1:196,296,263...196,300,615 		JBrowse link
G Ifnb1 interferon beta 1 ISO CTD Direct Evidence: therapeutic CTD PMID:16115947 NCBI chr 5:103,020,758...103,021,595
Ensembl chr 5:103,020,969...103,021,523 		JBrowse link
G Igf1r insulin-like growth factor 1 receptor ISO protein: decreased tyrosine phosphorylation: : Y1131 RGD PMID:17121898 RGD:7242922 NCBI chr 1:121,549,831...121,838,548
Ensembl chr 1:121,550,743...121,831,777 		JBrowse link
G Igf2bp1 insulin-like growth factor 2 mRNA binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:37246217 NCBI chr10:80,908,300...80,951,097
Ensembl chr10:80,908,076...80,951,129 		JBrowse link
G Il18 interleukin 18 susceptibility ISO RGD PMID:16428511 RGD:8655920 NCBI chr 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887 		JBrowse link
G Il1b interleukin 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:34626302 NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415 		JBrowse link
G Isl1 ISL LIM homeobox 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30127528 NCBI chr 2:48,079,412...48,090,704
Ensembl chr 2:48,080,522...48,095,584 		JBrowse link
G Kif1b kinesin family member 1B ISO ClinVar Annotator: match by term: Neuroblastoma | ClinVar Annotator: match by term: Neuroblastoma, susceptibility to, 1
CTD Direct Evidence: marker/mechanism		 ClinVar
OMIM
CTD		 PMID:18334619 PMID:24033266 PMID:24469107 PMID:24694336 PMID:25741868 More... NCBI chr 5:159,607,697...159,742,778
Ensembl chr 5:159,561,271...159,742,778 		JBrowse link
G Kras KRAS proto-oncogene, GTPase ISO CTD Direct Evidence: marker/mechanism CTD PMID:26121086 NCBI chr 4:178,185,418...178,218,484 JBrowse link
G Lin28b lin-28 homolog B ISO
ISS		 CTD Direct Evidence: marker/mechanism CTD
MouseDO		 PMID:22941191 PMID:23042116 NCBI chr20:48,865,329...48,964,769
Ensembl chr20:48,869,485...48,955,077 		JBrowse link
G Map2k4 mitogen activated protein kinase kinase 4 ISO ClinVar Annotator: match by term: Neuroblastoma ClinVar PMID:26822237 NCBI chr10:50,343,227...50,447,956
Ensembl chr10:50,344,915...50,447,993 		JBrowse link
G Map2k7 mitogen activated protein kinase kinase 7 ISO ClinVar Annotator: match by term: Neuroblastoma ClinVar PMID:26822237 NCBI chr12:2,591,312...2,600,534
Ensembl chr12:2,591,219...2,604,222 		JBrowse link
G Men1 menin 1 ISO ClinVar Annotator: match by term: Neuroblastoma ClinVar PMID:25741868 NCBI chr 1:203,638,905...203,644,871
Ensembl chr 1:203,639,000...203,644,871 		JBrowse link
G Met MET proto-oncogene, receptor tyrosine kinase ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Neuroblastoma		 CTD
ClinVar		 PMID:16051641 PMID:26822237 NCBI chr 4:45,790,456...45,898,139
Ensembl chr 4:45,790,791...45,897,876 		JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:34626302 NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120 		JBrowse link
G Mt-co2 mitochondrially encoded cytochrome c oxidase II ISO CTD Direct Evidence: marker/mechanism CTD PMID:15492235 NCBI chr MT:7,006...7,689
NCBI chr MT:7,006...7,689
NCBI chr MT:7,006...7,689
Ensembl chr MT:7,006...7,689 		JBrowse link
G Mtfp1 mitochondrial fission process 1 severity ISO mRNA:increased expression:neural tissue (human) RGD PMID:27765905 RGD:12880392 NCBI chr14:78,968,434...78,972,274
Ensembl chr14:78,968,442...78,972,274 		JBrowse link
G Myb MYB proto-oncogene, transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:34626302 NCBI chr 1:15,939,771...15,973,367
Ensembl chr 1:15,939,761...15,973,057 		JBrowse link
G Myc MYC proto-oncogene, bHLH transcription factor ISO ClinVar Annotator: match by term: Neuroblastoma
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD		 PMID:8761367 PMID:25157968 PMID:26619011 PMID:34626302 NCBI chr 7:93,593,705...93,598,633
Ensembl chr 7:93,593,705...93,598,630 		JBrowse link
G Mycn MYCN proto-oncogene, bHLH transcription factor ISO ClinVar Annotator: match by term: Neuroblastoma
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD		 PMID:16051641 PMID:16989911 PMID:17283129 PMID:18353067 PMID:22286764 More... NCBI chr 6:35,717,764...35,723,590
Ensembl chr 6:35,717,764...35,723,590 		JBrowse link
G Nme1 NME/NM23 nucleoside diphosphate kinase 1 ISO RGD PMID:8047138 RGD:1600229 NCBI chr10:78,907,036...78,929,659
Ensembl chr10:78,906,083...78,916,408 		JBrowse link
G Nnat neuronatin ISO CTD Direct Evidence: marker/mechanism CTD PMID:17762496 NCBI chr 3:146,225,941...146,228,868
Ensembl chr 3:146,226,407...146,228,834 		JBrowse link
G Nodal nodal growth differentiation factor ISO mRNA:increased expression:neural tissue (human) RGD PMID:30985990 RGD:155226876 NCBI chr20:29,368,436...29,376,837
Ensembl chr20:29,368,436...29,376,837 		JBrowse link
G Nras NRAS proto-oncogene, GTPase ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Neuroblastoma		 CTD
ClinVar		 PMID:2674680 PMID:8120410 PMID:10821536 PMID:12460918 PMID:15899789 More... NCBI chr 2:190,582,885...190,593,509
Ensembl chr 2:190,582,918...190,591,626 		JBrowse link
G Nsd1 nuclear receptor binding SET domain protein 1 severity ISO DNA:hypermethylation:promoter:CpG islands (human) RGD PMID:20018718 RGD:9590155 NCBI chr17:9,311,963...9,426,373
Ensembl chr17:9,315,237...9,425,358 		JBrowse link
G Nt5e 5' nucleotidase, ecto ISO CTD Direct Evidence: therapeutic CTD PMID:34773529 NCBI chr 8:89,271,046...89,314,918
Ensembl chr 8:89,270,696...89,314,881 		JBrowse link
G Ntrk1 neurotrophic receptor tyrosine kinase 1 disease_progression ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:16989911 PMID:8433391 RGD:5684545 NCBI chr 2:173,236,961...173,253,806
Ensembl chr 2:173,236,963...173,253,770 		JBrowse link
G Ntrk2 neurotrophic receptor tyrosine kinase 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Neuroblastoma		 CTD
ClinVar		 PMID:16051641 PMID:26822237 NCBI chr17:5,558,992...5,870,299
Ensembl chr17:5,559,043...5,869,136 		JBrowse link
G Pak4 p21 (RAC1) activated kinase 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29048629 NCBI chr 1:83,849,904...83,889,188
Ensembl chr 1:83,849,904...83,859,413 		JBrowse link
G Pecam1 platelet and endothelial cell adhesion molecule 1 ISO human tumor in mouse model RGD PMID:22174364 RGD:6767296 NCBI chr10:91,590,521...91,652,279
Ensembl chr10:91,590,521...91,652,116 		JBrowse link
G Phf6 PHD finger protein 6 ISO ClinVar Annotator: match by term: Neuroblastoma ClinVar PMID:26822237 NCBI chr  X:132,656,658...132,699,720
Ensembl chr  X:132,656,672...132,699,127 		JBrowse link
G Phox2b paired-like homeobox 2b exacerbates ISO ClinVar Annotator: match by term: Neuroblastoma
human cell line in a mouse model
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
RGD		 PMID:25174395 PMID:30127528 PMID:26840262 RGD:151667442 NCBI chr14:41,066,012...41,069,202
Ensembl chr14:41,066,264...41,068,978 		JBrowse link
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha ISO ClinVar Annotator: match by term: Neuroblastoma ClinVar PMID:17376864 PMID:18074223 PMID:20581867 PMID:25741868 PMID:26619011 More... NCBI chr 2:115,175,275...115,249,034
Ensembl chr 2:115,174,984...115,249,032 		JBrowse link
G Pink1 PTEN induced kinase 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Neuroblastoma		 CTD
ClinVar		 PMID:23334666 PMID:25741868 NCBI chr 5:150,530,523...150,542,635
Ensembl chr 5:150,530,523...150,542,635 		JBrowse link
G Pramex1 PRAME like, X-linked 1 severity ISO mRNA:increased expression:neural tissue (human) RGD PMID:15240516 RGD:11535044 NCBI chr  X:98,567,994...98,574,654
Ensembl chr  X:98,569,415...98,572,096 		JBrowse link
G Psmd14 proteasome 26S subunit, non-ATPase 14 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30871063 NCBI chr 3:46,254,338...46,347,076
Ensembl chr 3:46,254,330...46,347,076 		JBrowse link
G Ptch1 patched 1 ISO ClinVar Annotator: match by term: Neuroblastoma ClinVar PMID:25741868 PMID:28492532 NCBI chr17:1,542,705...1,607,730
Ensembl chr17:1,542,877...1,607,333 		JBrowse link
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Neuroblastoma		 CTD
ClinVar		 PMID:11704759 PMID:12161469 PMID:12634870 PMID:12717436 PMID:14644997 More... NCBI chr12:35,365,436...35,424,925
Ensembl chr12:35,383,144...35,424,925 		JBrowse link
G Ptpn14 protein tyrosine phosphatase, non-receptor type 14 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26121086 NCBI chr13:101,268,258...101,420,508
Ensembl chr13:101,268,416...101,414,088 		JBrowse link
G Rassf1 Ras association domain family member 1 ISO RGD PMID:17325427 PMID:12222680 RGD:2291979, RGD:2291977 NCBI chr 8:108,225,023...108,236,164
Ensembl chr 8:108,225,023...108,236,164 		JBrowse link
G Rassf5 Ras association domain family member 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18452173 NCBI chr13:42,637,513...42,703,024
Ensembl chr13:42,637,549...42,703,024 		JBrowse link
G Rbm15 RNA binding motif protein 15 ISO ClinVar Annotator: match by term: Neuroblastoma ClinVar PMID:26822237 NCBI chr 2:194,945,974...194,954,498
Ensembl chr 2:194,945,974...194,954,703 		JBrowse link
G Rela RELA proto-oncogene, NF-kB subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:34626302 NCBI chr 1:202,925,001...202,935,484
Ensembl chr 1:202,924,945...202,935,484 		JBrowse link
G Scnn1a sodium channel epithelial 1 subunit alpha disease_progression ISO Low levels of methylation correlate with improved survival RGD PMID:21314941 RGD:5509791 NCBI chr 4:158,122,962...158,146,184
Ensembl chr 4:158,122,962...158,146,181 		JBrowse link
G Sdhc succinate dehydrogenase complex subunit C ISO ClinVar Annotator: match by term: Neuroblastoma ClinVar PMID:21979946 PMID:25741868 PMID:28492532 NCBI chr13:83,544,652...83,565,560
Ensembl chr13:83,544,652...83,566,253 		JBrowse link
G Sema3b semaphorin 3B ISO CTD Direct Evidence: marker/mechanism CTD PMID:17452250 NCBI chr 8:108,271,663...108,280,326
Ensembl chr 8:108,271,666...108,282,919 		JBrowse link
G Smarca4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 ISO ClinVar Annotator: match by term: Neuroblastoma ClinVar PMID:25741868 NCBI chr 8:20,167,717...20,258,975
Ensembl chr 8:20,167,717...20,258,975 		JBrowse link
G Snrpe small nuclear ribonucleoprotein polypeptide E severity ISO mRNA:decreased expression:neuroblastoma (human) RGD PMID:17075126 RGD:10755762 NCBI chr13:45,050,986...45,057,231
Ensembl chr13:45,050,986...45,057,310
Ensembl chr 8:45,050,986...45,057,310 		JBrowse link
G Tbx2 T-box transcription factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30127528 NCBI chr10:70,679,670...70,688,868
Ensembl chr10:70,679,518...70,688,529 		JBrowse link
G Tert telomerase reverse transcriptase ISO CTD Direct Evidence: marker/mechanism CTD PMID:26523776 NCBI chr 1:29,637,213...29,659,561
Ensembl chr 1:29,637,506...29,659,561 		JBrowse link
G Th tyrosine hydroxylase ISO CTD Direct Evidence: marker/mechanism CTD PMID:25174395 NCBI chr 1:198,071,500...198,078,832
Ensembl chr 1:198,071,503...198,109,767 		JBrowse link
G Tnf tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:34626302 NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629 		JBrowse link
G Tnfsf10 TNF superfamily member 10 ISO CTD Direct Evidence: therapeutic CTD PMID:16820965 NCBI chr 2:110,199,835...110,227,239
Ensembl chr 2:110,207,916...110,225,135 		JBrowse link
G Tp53 tumor protein p53 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Neuroblastoma		 CTD
ClinVar		 PMID:7651740 PMID:9546439 PMID:10064694 PMID:10864200 PMID:11896595 More... NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524 		JBrowse link
G Tp73 tumor protein p73 no_association ISO RGD PMID:9288759 RGD:1599583 NCBI chr 5:164,621,377...164,703,958
Ensembl chr 5:164,621,377...164,681,128 		JBrowse link
G Tsc1 TSC complex subunit 1 ISO ClinVar Annotator: match by term: Neuroblastoma ClinVar PMID:25741868 NCBI chr 3:11,969,547...12,018,591
Ensembl chr 3:11,979,729...12,015,674 		JBrowse link
G Tsc2 TSC complex subunit 2 ISO ClinVar Annotator: match by term: Neuroblastoma ClinVar PMID:26822237 NCBI chr10:13,621,135...13,655,773
Ensembl chr10:13,621,136...13,655,951 		JBrowse link
G Yap1 Yes1 associated transcriptional regulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:26121086 NCBI chr 8:5,095,705...5,166,808
Ensembl chr 8:5,095,722...5,167,010 		JBrowse link
G Zfp276 zinc finger protein (C2H2 type) 276 ISO ClinVar Annotator: match by term: Neuroblastoma ClinVar PMID:9536098 PMID:15059067 PMID:17576681 PMID:24584348 PMID:25741868 More... NCBI chr19:51,291,005...51,304,240
Ensembl chr19:51,290,777...51,304,049 		JBrowse link
Neuroblastoma 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Phox2b paired-like homeobox 2b susceptibility ISO ClinVar Annotator: match by term: NEUROBLASTOMA, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Neuroblastoma 2 | ClinVar Annotator: match by term: Neuroblastoma, susceptibility to, 2 ClinVar
OMIM		 PMID:12640453 PMID:15024693 PMID:15121777 PMID:15338462 PMID:15657873 More... NCBI chr14:41,066,012...41,069,202
Ensembl chr14:41,066,264...41,068,978 		JBrowse link
Neuroblastoma 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alk ALK receptor tyrosine kinase susceptibility ISO ClinVar Annotator: match by term: ALK-related condition | ClinVar Annotator: match by term: Neuroblastoma 3 | ClinVar Annotator: match by term: Neuroblastoma, susceptibility to, 3 OMIM
ClinVar		 PMID:2124297 PMID:9536098 PMID:15517393 PMID:16199547 PMID:16880530 More... NCBI chr 6:22,879,653...23,599,636
Ensembl chr 6:22,880,625...23,598,034 		JBrowse link
G Clip4 CAP-GLY domain containing linker protein family, member 4 ISO ClinVar Annotator: match by term: Neuroblastoma, susceptibility to, 3 ClinVar PMID:28492532 NCBI chr 6:23,616,280...23,697,625
NCBI chr 6:23,718,580...23,729,231
NCBI chr 6:23,597,729...23,601,000
Ensembl chr 6:23,616,281...23,677,874 		JBrowse link
G Pcare photoreceptor cilium actin regulator ISO ClinVar Annotator: match by term: Neuroblastoma, susceptibility to, 3 ClinVar PMID:28492532 NCBI chr 6:23,749,700...23,758,424
Ensembl chr 6:23,749,757...23,758,169 		JBrowse link
G Togaram2 TOG array regulator of axonemal microtubules 2 ISO ClinVar Annotator: match by term: Neuroblastoma, susceptibility to, 3 ClinVar PMID:28492532 NCBI chr 6:23,770,979...23,828,884
Ensembl chr 6:23,771,052...23,828,499 		JBrowse link
G Wdr43 WD repeat domain 43 ISO ClinVar Annotator: match by term: Neuroblastoma, susceptibility to, 3 ClinVar PMID:28492532 NCBI chr 6:23,845,499...23,884,846
Ensembl chr 6:23,845,499...23,884,846 		JBrowse link
olfactory neuroblastoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hif1a hypoxia inducible factor 1 subunit alpha severity ISO protein:increased expression:neuroblastoma (human) RGD PMID:18431543 RGD:8694471 NCBI chr 6:92,624,059...92,669,262
Ensembl chr 6:92,624,390...92,669,261 		JBrowse link
oligodendroglioma 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: Oligodendroglioma ClinVar NCBI chr  X:70,850,981...70,997,330
Ensembl chr  X:70,850,981...70,997,330 		JBrowse link
G Camk2b calcium/calmodulin-dependent protein kinase II beta disease_progression ISO RGD PMID:15750623 RGD:13702479 NCBI chr14:80,845,206...80,934,172
Ensembl chr14:80,845,238...80,933,994 		JBrowse link
G Cic capicua transcriptional repressor ISO ClinVar Annotator: match by term: Oligodendroglioma ClinVar NCBI chr 1:80,853,920...80,880,537
Ensembl chr 1:80,853,920...80,880,532 		JBrowse link
G Dtx1 deltex E3 ubiquitin ligase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21127729 NCBI chr12:35,849,647...35,880,835
Ensembl chr12:35,849,617...35,880,838 		JBrowse link
G Egf epidermal growth factor susceptibility ISO DNA:polymorphism:promoter:GG genotypes were associated with increased risk. RGD PMID:17473192 RGD:13702474 NCBI chr 2:218,219,408...218,302,359
Ensembl chr 2:218,219,415...218,302,064 		JBrowse link
G Gdnf glial cell derived neurotrophic factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:19138852 NCBI chr 2:56,894,022...56,919,935
Ensembl chr 2:56,895,010...56,917,209 		JBrowse link
G Hes1 hes family bHLH transcription factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21127729 NCBI chr11:70,705,763...70,708,176
Ensembl chr11:70,705,764...70,708,192 		JBrowse link
G Hey1 hes-related family bHLH transcription factor with YRPW motif 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21127729 NCBI chr 2:93,096,605...93,100,316
Ensembl chr 2:93,095,498...93,100,312 		JBrowse link
G Idh1 isocitrate dehydrogenase (NADP(+)) 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Oligodendroglioma		 CTD
ClinVar		 PMID:18772396 PMID:19657110 PMID:19798509 PMID:19818334 PMID:20160062 More... NCBI chr 9:66,534,146...66,563,703
Ensembl chr 9:66,534,146...66,563,708 		JBrowse link
G Idh2 isocitrate dehydrogenase (NADP(+)) 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20160062 NCBI chr 1:134,038,644...134,057,969
Ensembl chr 1:134,029,772...134,058,025 		JBrowse link
G Mgmt O-6-methylguanine-DNA methyltransferase ISO DNA:hypermethylation:promoter (human) RGD PMID:15455350 RGD:2317688 NCBI chr 1:191,710,980...191,937,760
Ensembl chr 1:191,710,930...191,937,756 		JBrowse link
G Ptges3 prostaglandin E synthase 3 ISO protein:increased expression:brain cortex, white matter (human) RGD PMID:19347995 RGD:5688067 NCBI chr 7:490,698...507,759
Ensembl chr 7:490,656...508,084 		JBrowse link
G Rb1 RB transcriptional corepressor 1 disease_progression ISO RGD PMID:15970925 RGD:13782064 NCBI chr15:48,371,295...48,502,473
Ensembl chr15:48,371,296...48,502,302 		JBrowse link
optic nerve glioma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alx4 ALX homeobox 4 ISO ClinVar Annotator: match by term: Optic nerve glioma ClinVar PMID:25741868 NCBI chr 3:79,611,682...79,648,260
Ensembl chr 3:79,611,719...79,648,260 		JBrowse link
G Cx3cr1 C-X3-C motif chemokine receptor 1 onset ISO associated with Neurofibromatosis 1 RGD PMID:23424002 RGD:9491391 NCBI chr 8:119,785,726...119,799,431
Ensembl chr 8:119,782,595...119,800,014 		JBrowse link
G Nf1 neurofibromin 1 susceptibility ISO associated with Neurofibromatosis 1; DNA:mutations:5'end:
ClinVar Annotator: match by term: Optic nerve glioma		 ClinVar
RGD		 PMID:10712197 PMID:16199547 PMID:23913538 PMID:25741868 PMID:28492532 More... RGD:12789442 NCBI chr10:64,306,027...64,539,112
Ensembl chr10:64,306,301...64,536,658 		JBrowse link
Ossification of Posterior Longitudinal Ligament term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Enpp1 ectonucleotide pyrophosphatase/phosphodiesterase 1 ISO OPLL,OMIM:602475;DNA:polymorphism RGD PMID:10453738 RGD:1601041 NCBI chr 1:20,698,746...20,763,741
Ensembl chr 1:20,698,764...20,763,715 		JBrowse link
ossification of the posterior longitudinal ligament of spine term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bmp4 bone morphogenetic protein 4 susceptibility ISO DNA:polymorphism:exon:6007C>T(rs17563)(human) RGD PMID:21034624 RGD:9068398 NCBI chr15:19,618,538...19,633,494
Ensembl chr15:19,618,542...19,623,306 		JBrowse link
G Enpp1 ectonucleotide pyrophosphatase/phosphodiesterase 1 severity ISO
ISS		 DNA:deletion:intron:IVS20-11delT (human)
OMIM:602475		 MouseDO
RGD		 PMID:15834329 RGD:13204732 NCBI chr 1:20,698,746...20,763,741
Ensembl chr 1:20,698,764...20,763,715 		JBrowse link
parastremmatic dwarfism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Trpv4 transient receptor potential cation channel, subfamily V, member 4 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Parastremmatic dwarfism		 OMIM
CTD
ClinVar		 PMID:4056805 PMID:6628444 PMID:8179305 PMID:14755468 PMID:17879966 More... NCBI chr12:41,938,533...41,977,517
Ensembl chr12:41,938,560...41,977,517 		JBrowse link
PERITONEAL GLIOMATOSIS term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fcgr1a Fc gamma receptor 1A ISO ClinVar Annotator: match by term: Peritoneal Gliomatosis ClinVar NCBI chr 2:183,851,075...183,860,077
Ensembl chr 2:183,851,077...183,859,994 		JBrowse link
G H2bc18 H2B clustered histone 18 ISO ClinVar Annotator: match by term: Peritoneal Gliomatosis ClinVar NCBI chr 2:183,838,331...183,842,769
Ensembl chr 2:183,838,334...183,841,529 		JBrowse link
G RT1-Db1 RT1 class II, locus Db1 ISO ClinVar Annotator: match by term: Peritoneal Gliomatosis ClinVar NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258 		JBrowse link
pilocytic astrocytoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Flcn folliculin ISO ClinVar Annotator: match by term: Pilocytic astrocytoma ClinVar PMID:15852235 PMID:16199547 PMID:25741868 PMID:28492532 NCBI chr10:44,588,621...44,607,808
Ensembl chr10:44,588,624...44,607,769 		JBrowse link
G Kras KRAS proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Pilocytic astrocytoma, somatic ClinVar PMID:12460918 PMID:15696205 PMID:16247081 PMID:16361624 PMID:16618717 More... NCBI chr 4:178,185,418...178,218,484 JBrowse link
G Nf1 neurofibromin 1 ISO ClinVar Annotator: match by term: Pilocytic astrocytoma ClinVar PMID:10712197 PMID:23913538 PMID:25741868 PMID:28492532 NCBI chr10:64,306,027...64,539,112
Ensembl chr10:64,306,301...64,536,658 		JBrowse link
G Palb2 partner and localizer of BRCA2 ISO ClinVar Annotator: match by term: Pilocytic astrocytoma ClinVar PMID:25741868 PMID:26283626 PMID:28492532 PMID:28664506 PMID:32546565 NCBI chr 1:176,665,076...176,689,053
Ensembl chr 1:176,665,076...176,688,990 		JBrowse link
G Ret ret proto-oncogene ISO ClinVar Annotator: match by term: Pilocytic astrocytoma, somatic ClinVar PMID:25741868 PMID:28492532 NCBI chr 4:151,325,969...151,368,176
Ensembl chr 4:151,326,431...151,368,176 		JBrowse link
G Sdha succinate dehydrogenase complex flavoprotein subunit A ISO ClinVar Annotator: match by term: Pilocytic astrocytoma, somatic ClinVar PMID:20484225 PMID:21505157 PMID:21752896 PMID:22955521 PMID:22974104 More... NCBI chr 1:28,935,965...28,960,936
Ensembl chr 1:28,940,164...28,961,535 		JBrowse link
pilomyxoid astrocytoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgfr1 Fibroblast growth factor receptor 1 ISO ClinVar Annotator: match by term: Pilomyxoid astrocytoma ClinVar PMID:25705862 PMID:25741868 PMID:26619011 PMID:26942290 PMID:28492532 More... NCBI chr16:66,491,930...66,547,161
Ensembl chr16:66,494,042...66,547,350 		JBrowse link
Primitive Neuroectodermal Tumors term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ewsr1 EWS RNA-binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12162413 NCBI chr14:79,965,365...79,994,108
Ensembl chr14:79,965,368...79,994,544 		JBrowse link
G Hes1 hes family bHLH transcription factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21127729 NCBI chr11:70,705,763...70,708,176
Ensembl chr11:70,705,764...70,708,192 		JBrowse link
G Hey1 hes-related family bHLH transcription factor with YRPW motif 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21127729 NCBI chr 2:93,096,605...93,100,316
Ensembl chr 2:93,095,498...93,100,312 		JBrowse link
G Notch2 notch receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21127729 NCBI chr 2:185,610,594...185,744,088
Ensembl chr 2:185,610,589...185,744,088 		JBrowse link
G Pms2 PMS1 homolog 2, mismatch repair system component ISO CTD Direct Evidence: marker/mechanism CTD PMID:15077197 NCBI chr12:10,676,818...10,701,161
Ensembl chr12:10,676,764...10,701,066 		JBrowse link
G Pon1 paraoxonase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16002382 NCBI chr 4:33,294,737...33,325,759
Ensembl chr 4:33,294,722...33,321,360 		JBrowse link
G Ptch1 patched 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9581815 NCBI chr17:1,542,705...1,607,730
Ensembl chr17:1,542,877...1,607,333 		JBrowse link
G Smo smoothened, frizzled class receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:9581815 NCBI chr 4:58,343,626...58,373,823
Ensembl chr 4:58,343,529...58,373,829 		JBrowse link
G Tsc1 TSC complex subunit 1 ISO ClinVar Annotator: match by term: Primitive neuroectodermal tumor ClinVar PMID:16554133 PMID:21309039 PMID:22703879 PMID:23514105 PMID:25077650 More... NCBI chr 3:11,969,547...12,018,591
Ensembl chr 3:11,979,729...12,015,674 		JBrowse link
Primitive Peripheral Neuroectodermal Tumors term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kit KIT proto-oncogene receptor tyrosine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:15618851 NCBI chr14:32,547,459...32,624,694
Ensembl chr14:32,548,877...32,624,652 		JBrowse link
retinoblastoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cadm2 cell adhesion molecule 2 ISO mRNA, protein:decreased expression:retina RGD PMID:30320366 RGD:15092072 NCBI chr11:4,548,367...5,525,420
Ensembl chr11:4,555,159...5,525,400 		JBrowse link
G Cdkn2a cyclin-dependent kinase inhibitor 2A ISO ClinVar Annotator: match by term: Retinoblastoma ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:103,984,949...103,992,143
Ensembl chr 5:103,984,949...104,003,149 		JBrowse link
G Dicer1 dicer 1 ribonuclease III exacerbates ISO DNA:deletion:haploinsufficiency RGD PMID:20019750 RGD:149735324 NCBI chr 6:123,627,529...123,692,278
Ensembl chr 6:123,631,250...123,693,965 		JBrowse link
G Fancm FA complementation group M ISO ClinVar Annotator: match by term: Retinoblastoma ClinVar PMID:25741868 NCBI chr 6:83,126,903...83,180,455
Ensembl chr 6:83,127,093...83,180,028 		JBrowse link
G Fas Fas cell surface death receptor severity ISO protein:decreased expression:tumor (human) RGD PMID:14533029 RGD:8662811 NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591 		JBrowse link
G Ifnb1 interferon beta 1 ameliorates ISO RGD PMID:19306089 RGD:401854248 NCBI chr 5:103,020,758...103,021,595
Ensembl chr 5:103,020,969...103,021,523 		JBrowse link
G Itm2b integral membrane protein 2B ISO ClinVar Annotator: match by term: Eye cancer, retinoblastoma | ClinVar Annotator: match by term: Retinoblastoma ClinVar PMID:8099255 PMID:12541220 PMID:14722923 PMID:15877282 PMID:17096365 More... NCBI chr15:48,545,998...48,568,904
Ensembl chr15:48,546,001...48,568,917 		JBrowse link
G Kdm1b lysine demethylase 1B ISO mRNA:increased expression:retina (human) RGD PMID:16180235 RGD:9588276 NCBI chr17:17,602,961...17,643,865
Ensembl chr17:17,602,961...17,643,800 		JBrowse link
G Lpar6 lysophosphatidic acid receptor 6 ISO ClinVar Annotator: match by term: Eye cancer, retinoblastoma | ClinVar Annotator: match by term: Retinoblastoma ClinVar PMID:8099255 PMID:12541220 PMID:15877282 PMID:17096365 PMID:17301081 More... NCBI chr15:48,416,548...48,418,357
Ensembl chr15:48,416,544...48,422,331 		JBrowse link
G Max MYC associated factor X ISO ClinVar Annotator: match by term: Retinoblastoma ClinVar PMID:25741868 PMID:28492532 NCBI chr 6:95,636,859...95,662,204
Ensembl chr 6:95,636,858...95,662,137 		JBrowse link
G Med4 mediator complex subunit 4 ISO ClinVar Annotator: match by term: Eye cancer, retinoblastoma | ClinVar Annotator: match by term: Retinoblastoma ClinVar PMID:8099255 PMID:12541220 PMID:14722923 PMID:15877282 PMID:17096365 More... NCBI chr15:48,696,542...48,706,818
Ensembl chr15:48,696,511...48,706,820 		JBrowse link
G Mgmt O-6-methylguanine-DNA methyltransferase disease_progression ISO DNA:hypermethylation:promoter (human) RGD PMID:15799820 RGD:2317684 NCBI chr 1:191,710,980...191,937,760
Ensembl chr 1:191,710,930...191,937,756 		JBrowse link
G Mir182 microRNA 182 treatment IEP
IMP		 miRNA:increased expression:retina RGD PMID:30320366 PMID:30320366 RGD:15092072, RGD:15092072 NCBI chr 4:58,784,818...58,784,879
Ensembl chr 4:58,784,818...58,784,879 		JBrowse link
G Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase susceptibility ISO DNA:SNP::2756A>G(human) RGD PMID:20310006 RGD:8694083 NCBI chr17:58,219,998...58,308,560
Ensembl chr17:58,220,071...58,304,822 		JBrowse link
G Mutyh mutY DNA glycosylase ISO ClinVar Annotator: match by term: Retinoblastoma ClinVar PMID:25741868 PMID:26467025 PMID:26947005 PMID:28135145 PMID:28492532 More... NCBI chr 5:130,274,034...130,286,149
Ensembl chr 5:130,274,122...130,286,146 		JBrowse link
G Nf1 neurofibromin 1 ISO ClinVar Annotator: match by term: Retinoblastoma ClinVar PMID:25741868 PMID:28492532 NCBI chr10:64,306,027...64,539,112
Ensembl chr10:64,306,301...64,536,658 		JBrowse link
G Nudt15 nudix hydrolase 15 ISO ClinVar Annotator: match by term: Retinoblastoma ClinVar PMID:8099255 PMID:12541220 PMID:14722923 PMID:17096365 PMID:22180099 More... NCBI chr15:48,707,776...48,713,847
Ensembl chr15:48,709,700...48,747,363 		JBrowse link
G Palb2 partner and localizer of BRCA2 ISO ClinVar Annotator: match by term: Retinoblastoma ClinVar PMID:23555315 PMID:25085752 PMID:25741868 PMID:26467025 PMID:28492532 More... NCBI chr 1:176,665,076...176,689,053
Ensembl chr 1:176,665,076...176,688,990 		JBrowse link
G Ptch1 patched 1 ISO ClinVar Annotator: match by term: Retinoblastoma ClinVar PMID:24728327 PMID:25741868 PMID:28492532 NCBI chr17:1,542,705...1,607,730
Ensembl chr17:1,542,877...1,607,333 		JBrowse link
G Rb1 RB transcriptional corepressor 1 ISO ClinVar Annotator: match by term: Eye cancer, retinoblastoma | ClinVar Annotator: match by term: Retinoblastoma
CTD Direct Evidence: marker/mechanism
DNA:mutations:exon, intron:multiple		 OMIM
ClinVar
CTD
RGD		 PMID:1298292 PMID:1352398 PMID:1352883 PMID:1534305 PMID:1577465 More... RGD:8547986 NCBI chr15:48,371,295...48,502,473
Ensembl chr15:48,371,296...48,502,302 		JBrowse link
G Serpinf1 serpin family F member 1 treatment ISO human protein and tumor xenograft in a mouse model RGD PMID:19832843 RGD:8554870 NCBI chr10:60,250,198...60,262,593
Ensembl chr10:60,249,708...60,262,646 		JBrowse link
G Sncg synuclein, gamma ISO RGD PMID:18728752 RGD:6218971 NCBI chr16:9,700,513...9,705,751
Ensembl chr16:9,700,514...9,705,368 		JBrowse link
rigid spine muscular dystrophy 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acta1 actin, alpha 1, skeletal muscle ISO ClinVar Annotator: match by term: Congenital muscular dystrophy with rigid spine ClinVar PMID:25182138 PMID:27854218 NCBI chr19:51,883,709...51,886,735
Ensembl chr19:51,883,715...51,886,742 		JBrowse link
G Hmgcs1 3-hydroxy-3-methylglutaryl-CoA synthase 1 ISO ClinVar Annotator: match by term: Rigid spine syndrome ClinVar PMID:25741868 NCBI chr 2:51,649,368...51,667,100
Ensembl chr 2:51,649,497...51,667,100 		JBrowse link
G Ldlrap1 low density lipoprotein receptor adaptor protein 1 ISO ClinVar Annotator: match by term: Eichsfeld type congenital muscular dystrophy ClinVar PMID:21131290 PMID:21670436 PMID:28492532 NCBI chr 5:146,955,607...146,978,601
Ensembl chr 5:146,955,607...146,978,601 		JBrowse link
G Man1c1 mannosidase, alpha, class 1C, member 1 ISO ClinVar Annotator: match by term: Eichsfeld type congenital muscular dystrophy ClinVar PMID:21131290 PMID:21670436 PMID:28492532 NCBI chr 5:146,774,282...146,913,257
Ensembl chr 5:146,775,842...146,913,421 		JBrowse link
G Ryr1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: Multi-minicore disease and atypical periodic paralysis | ClinVar Annotator: match by term: Multiminicore/minicore/multicore disease ClinVar PMID:17033962 PMID:18414213 PMID:20080402 PMID:21674524 PMID:21911697 More... NCBI chr 1:84,292,578...84,423,824
Ensembl chr 1:84,292,578...84,423,812 		JBrowse link
G Selenon selenoprotein N ISO
ISS		 DNA:frameshift mutations, missense mutations, nonsense mutation:cds:multiple (human)
ClinVar Annotator: match by term: CONGENITAL MYOPATHY 3 WITH RIGID SPINE | ClinVar Annotator: match by term: Eichsfeld type congenital muscular dystrophy | ClinVar Annotator: match by term: MYOPATHY, SEPN1-RELATED | ClinVar Annotator: match by term: Rigid spine muscular dystrophy 1
OMIM:602771
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
OMIM
RGD		 PMID:1219264 PMID:7224095 PMID:9536098 PMID:9585610 PMID:11079538 More... RGD:1599352 NCBI chr 5:146,748,638...146,764,656
Ensembl chr 5:146,748,652...146,763,059 		JBrowse link
Scheuermann's disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clec3b C-type lectin domain family 3, member B ISS OMIM:181440 MouseDO NCBI chr 8:122,810,120...122,815,837
Ensembl chr 8:122,810,149...122,815,835 		JBrowse link
G Nfix nuclear factor I X ISS OMIM:181440 MouseDO NCBI chr19:23,355,388...23,450,360
Ensembl chr19:23,355,498...23,448,265 		JBrowse link
Schimke immuno-osseous dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Smarcal1 Swi/SNF related matrix associated, actin dependent regulator of chromatin, subfamily a-like 1 ISO
ISS		 DNA:mutations:multiple (human)
ClinVar Annotator: match by term: Schimke immuno-osseous dysplasia
OMIM:242900
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
OMIM
RGD		 PMID:9536098 PMID:11799392 PMID:12471207 PMID:15523612 PMID:15880370 More... RGD:1599053 NCBI chr 9:74,239,718...74,286,156
Ensembl chr 9:74,240,241...74,286,146 		JBrowse link
scoliosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aloxe3 arachidonate lipoxygenase 3 ISO ClinVar Annotator: match by term: Scoliosis ClinVar PMID:25741868 NCBI chr10:53,830,219...53,854,328
Ensembl chr10:53,831,264...53,854,328 		JBrowse link
G Chd7 chromodomain helicase DNA binding protein 7 ISO ClinVar Annotator: match by term: Scoliosis ClinVar PMID:25741868 NCBI chr 5:21,812,007...21,995,358
Ensembl chr 5:21,812,070...21,995,358 		JBrowse link
G Chrng cholinergic receptor nicotinic gamma subunit ISO ClinVar Annotator: match by term: Scoliosis ClinVar PMID:15704180 PMID:16826520 PMID:22167768 PMID:25741868 PMID:28492532 More... NCBI chr 9:87,878,085...87,884,193
Ensembl chr 9:87,878,085...87,914,482 		JBrowse link
G Crebbp CREB binding protein ISO ClinVar Annotator: match by term: Scoliosis ClinVar NCBI chr10:11,335,551...11,461,888
Ensembl chr10:11,335,953...11,461,888 		JBrowse link
G Dll3 delta like canonical Notch ligand 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17849441 NCBI chr 1:83,562,011...83,570,008
Ensembl chr 1:83,562,014...83,569,750 		JBrowse link
G Elp1 elongator acetyltransferase complex subunit 1 ISO RGD PMID:11097445 RGD:5129159 NCBI chr 5:71,453,338...71,505,833
Ensembl chr 5:71,456,310...71,505,762 		JBrowse link
G Fbn1 fibrillin 1 ISO DNA:missense mutations:exon:multiple
ClinVar Annotator: match by term: Congenital scoliosis | ClinVar Annotator: match by term: Scoliosis		 ClinVar
RGD		 PMID:10464652 PMID:11700157 PMID:11933199 PMID:12203987 PMID:12203992 More... RGD:12910484 NCBI chr 3:112,554,257...112,750,835
Ensembl chr 3:112,554,925...112,750,889 		JBrowse link
G Fbn2 fibrillin 2 ISO DNA:frameshift mutation, missense mutations:exon:multiple RGD PMID:24833718 RGD:12910484 NCBI chr18:51,499,670...51,703,976
Ensembl chr18:51,499,737...51,703,976 		JBrowse link
G Fgfr3 fibroblast growth factor receptor 3 ISS MouseDO NCBI chr14:76,987,242...77,002,671
Ensembl chr14:76,987,993...77,003,341 		JBrowse link
G Flna filamin A ISO ClinVar Annotator: match by term: Scoliosis ClinVar PMID:25741868 PMID:28492532 NCBI chr  X:152,007,758...152,034,266
Ensembl chr  X:152,007,758...152,031,052 		JBrowse link
G Fxr1 FMR1 autosomal homolog 1 ISO ClinVar Annotator: match by term: Scoliosis ClinVar PMID:25741868 NCBI chr 2:116,884,167...116,937,590
Ensembl chr 2:116,884,248...116,937,590 		JBrowse link
G Gdf3 growth differentiation factor 3 ISO ClinVar Annotator: match by term: Scoliosis ClinVar PMID:19864492 PMID:25741868 PMID:28492532 NCBI chr 4:155,831,572...155,835,953
Ensembl chr 4:155,830,909...155,835,937 		JBrowse link
G Gfap glial fibrillary acidic protein ISO ClinVar Annotator: match by term: Scoliosis ClinVar NCBI chr10:87,852,891...87,861,631
Ensembl chr10:87,852,890...87,861,589 		JBrowse link
G Hars1 histidyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Scoliosis ClinVar PMID:25741868 PMID:28492532 PMID:32333447 NCBI chr18:28,381,649...28,398,699
Ensembl chr18:28,381,655...28,398,740 		JBrowse link
G Hes7 hes family bHLH transcription factor 7 ISO ClinVar Annotator: match by term: Scoliosis ClinVar PMID:25741868 NCBI chr10:53,824,124...53,828,934
Ensembl chr10:53,825,574...53,828,097 		JBrowse link
G Jag1 jagged canonical Notch ligand 1 ISO ClinVar Annotator: match by term: Scoliosis ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:124,406,783...124,442,220
Ensembl chr 3:124,406,794...124,442,209 		JBrowse link
G Kif1b kinesin family member 1B ISO ClinVar Annotator: match by term: Scoliosis ClinVar PMID:25741868 NCBI chr 5:159,607,697...159,742,778
Ensembl chr 5:159,561,271...159,742,778 		JBrowse link
G Mmp1 matrix metallopeptidase 1 IEP protein:increased expression:intervertebral disc (rat) RGD PMID:21554726 RGD:7207288 NCBI chr 8:4,658,588...4,679,099
Ensembl chr 8:4,658,588...4,679,097 		JBrowse link
G Myf5 myogenic factor 5 ISO ClinVar Annotator: match by term: Scoliosis ClinVar PMID:10844060 PMID:29887215 NCBI chr 7:42,802,946...42,806,177
Ensembl chr 7:42,802,946...42,806,177 		JBrowse link
G Notch1 notch receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17849441 NCBI chr 3:9,277,955...9,323,531
Ensembl chr 3:9,278,086...9,323,531 		JBrowse link
G Poc5 POC5 centriolar protein ISO ClinVar Annotator: match by term: Scoliosis ClinVar PMID:25642776 PMID:25741868 PMID:28492532 NCBI chr 2:27,719,745...27,748,805
Ensembl chr 2:27,719,762...27,748,805 		JBrowse link
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 ISO ClinVar Annotator: match by term: Scoliosis ClinVar PMID:11992261 PMID:15121796 PMID:17339163 PMID:17875892 PMID:18241070 More... NCBI chr12:35,365,436...35,424,925
Ensembl chr12:35,383,144...35,424,925 		JBrowse link
G Rab5if RAB5 interacting factor ISO ClinVar Annotator: match by term: Scoliosis ClinVar PMID:24194475 PMID:35614220 NCBI chr 3:145,357,990...145,368,012
Ensembl chr 3:145,357,861...145,368,012 		JBrowse link
G Ryr1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: Scoliosis ClinVar PMID:17483490 PMID:18253926 PMID:19191329 PMID:19645060 PMID:21062345 More... NCBI chr 1:84,292,578...84,423,824
Ensembl chr 1:84,292,578...84,423,812 		JBrowse link
G Sh3tc2 SH3 domain and tetratricopeptide repeats 2 ISO ClinVar Annotator: match by term: Scoliosis ClinVar PMID:20220177 PMID:20301641 PMID:21291453 PMID:22950825 PMID:23806086 More... NCBI chr18:55,416,383...55,477,419
Ensembl chr18:55,416,413...55,483,083 		JBrowse link
G Sox3 SRY-box transcription factor 3 ISO ClinVar Annotator: match by term: Scoliosis ClinVar PMID:23757202 PMID:25741868 PMID:28492532 NCBI chr  X:139,308,608...139,310,687
Ensembl chr  X:139,309,329...139,310,678 		JBrowse link
G Tbx6 T-box transcription factor 6 ISO ClinVar Annotator: match by term: Scoliosis ClinVar PMID:25564734 PMID:25741868 PMID:28054739 PMID:28492532 PMID:31015262 More... NCBI chr 1:181,387,851...181,392,762
Ensembl chr 1:181,388,684...181,392,593 		JBrowse link
G Tmco1 transmembrane and coiled-coil domains 1 ISO ClinVar Annotator: match by term: Scoliosis ClinVar PMID:25741868 PMID:30755392 PMID:31102500 PMID:32214227 NCBI chr13:79,460,229...79,483,557
Ensembl chr13:79,460,135...79,483,555 		JBrowse link
G Tph1 tryptophan hydroxylase 1 no_association ISO DNA:SNP:promoter: (rs10488682) (human)
DNA:SNPs:multiple		 RGD PMID:18794762 PMID:21308753 PMID:21192222 RGD:5686347, RGD:5686349, RGD:5686348 NCBI chr 1:97,157,375...97,178,415
Ensembl chr 1:97,157,409...97,178,344 		JBrowse link
SEIZURES, SCOLIOSIS, AND MACROCEPHALY SYNDROME term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ext2 exostosin glycosyltransferase 2 ISO ClinVar Annotator: match by term: Seizures, scoliosis, and macrocephaly syndrome OMIM
ClinVar		 PMID:9326317 PMID:10679937 PMID:10713884 PMID:10750558 PMID:11432960 More... NCBI chr 3:79,665,414...79,798,077
Ensembl chr 3:79,665,415...79,798,059 		JBrowse link
Short Stature, Amelogenesis Imperfecta, and Skeletal Dysplasia with Scoliosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc10a7 solute carrier family 10, member 7 ISO ClinVar Annotator: match by term: Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis OMIM
ClinVar		 PMID:25741868 PMID:29878199 PMID:30082715 NCBI chr19:29,183,143...29,407,470
Ensembl chr19:29,183,155...29,407,464 		JBrowse link
Smith-McCort dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dym dymeclin ISO
ISS		 ClinVar Annotator: match by term: Smith-McCort dysplasia
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD		 PMID:25741868 PMID:28492532 NCBI chr18:68,605,131...68,900,905
Ensembl chr18:68,605,185...68,900,903 		JBrowse link
G Rab33b RAB33B, member RAS oncogene family ISO ClinVar Annotator: match by term: Smith-McCort dysplasia ClinVar NCBI chr 2:135,528,116...135,538,719
Ensembl chr 2:135,528,116...135,538,719 		JBrowse link
Smith-McCort dysplasia 1 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: DYM-related condition | ClinVar Annotator: match by term: Smith-McCort dysplasia 1 ClinVar
OMIM		 PMID:12491225 PMID:16097008 PMID:18996921 PMID:19005420 PMID:25741868 More... NCBI chr18:68,605,131...68,900,905
Ensembl chr18:68,605,185...68,900,903 		JBrowse link
Smith-McCort dysplasia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rab33b RAB33B, member RAS oncogene family ISO
ISS		 OMIM:615222
ClinVar Annotator: match by term: Smith-McCort dysplasia 2		 OMIM
MouseDO
ClinVar		 PMID:16470731 PMID:22652534 PMID:23042644 PMID:25741868 PMID:28127940 More... NCBI chr 2:135,528,116...135,538,719
Ensembl chr 2:135,528,116...135,538,719 		JBrowse link
Spinal Curvatures term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ift122 intraflagellar transport 122 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20493458 NCBI chr 4:148,905,031...148,975,458
Ensembl chr 4:148,905,046...148,975,458 		JBrowse link
Spinal Tuberculoses term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RT1-Ba RT1 class II, locus Ba susceptibility ISO DNA:missense mutation:CDS:c.592C>G (p.Q198E) (human) RGD PMID:29795056 RGD:126928140 NCBI chr20:4,575,134...4,579,727
Ensembl chr20:4,575,134...4,579,744 		JBrowse link
Spine Osteoarthritis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dusp1 dual specificity phosphatase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:34697729 NCBI chr10:16,680,478...16,683,275 JBrowse link
G Il6 interleukin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:34697729 NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178 		JBrowse link
G Lrp5 LDL receptor related protein 5 susceptibility ISO DNA:polymorphism:cds:p.Q89R(human) RGD PMID:17202888 RGD:12792278 NCBI chr 1:200,814,247...200,917,581
Ensembl chr 1:200,814,250...200,917,581 		JBrowse link
G Mir337 microRNA 337 ISO CTD Direct Evidence: marker/mechanism CTD PMID:34697729 NCBI chr 6:128,538,903...128,538,999
Ensembl chr 6:128,538,902...128,538,998 		JBrowse link
G Skp2 S-phase kinase associated protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:34697729 NCBI chr 2:58,161,226...58,189,293
Ensembl chr 2:58,161,229...58,189,338 		JBrowse link
G Tnf tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:34697729 NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629 		JBrowse link
Spondylarthritis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B2m beta-2 microglobulin ISO RGD PMID:16575857 RGD:6482692 NCBI chr 3:109,095,740...109,101,764
Ensembl chr 3:109,095,729...109,101,766 		JBrowse link
G Il17a interleukin 17A IEP protein:increased expression:serum (rat) RGD PMID:21905004 RGD:9068946 NCBI chr 9:23,144,402...23,147,889
Ensembl chr 9:23,144,402...23,147,889 		JBrowse link
G Psmb9 proteasome 20S subunit beta 9 no_association ISO RGD PMID:15603870 PMID:9496154 RGD:6483462, RGD:6483495 NCBI chr20:4,667,044...4,672,512
Ensembl chr20:4,666,046...4,672,512 		JBrowse link
G RT1-M5 RT1 class Ib, locus M5 susceptibility ISO DNA:polymorphisms:cds:HLA-B*2714, B*2705 (human) RGD PMID:12889998 RGD:10755578 NCBI chr20:1,546,496...1,548,948
Ensembl chr20:1,546,511...1,548,775 		JBrowse link
G Runx2 RUNX family transcription factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20008919 NCBI chr 9:16,167,504...16,492,826
Ensembl chr 9:16,167,482...16,492,167 		JBrowse link
spondylocarpotarsal synostosis syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Flnb filamin B ISO
ISS		 OMIM:272460
ClinVar Annotator: match by term: Scoliosis, congenital with unilateral unsegmented bar | ClinVar Annotator: match by term: Spondylocarpotarsal synostosis syndrome
CTD Direct Evidence: marker/mechanism		 OMIM
MouseDO
ClinVar
CTD
RGD		 PMID:14991055 PMID:18257094 PMID:18322662 PMID:18386804 PMID:20301736 More... RGD:12791028 NCBI chr15:16,961,999...17,095,059
Ensembl chr15:16,962,003...17,095,006 		JBrowse link
G Myh3 myosin heavy chain 3 ISO ClinVar Annotator: match by term: Scoliosis, congenital with unilateral unsegmented bar | ClinVar Annotator: match by term: Spondylocarpotarsal synostosis syndrome ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:29805041 More... NCBI chr10:51,770,177...51,793,994
Ensembl chr10:51,770,177...51,793,992 		JBrowse link
spondylocostal dysostosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dll3 delta like canonical Notch ligand 3 ISS
ISO		 OMIM:122600 | OMIM:277300 | OMIM:608681 | OMIM:609813 | OMIM:613686
ClinVar Annotator: match by term: Spondylocostal dysostosis		 MouseDO
ClinVar		 NCBI chr 1:83,562,011...83,570,008
Ensembl chr 1:83,562,014...83,569,750 		JBrowse link
G Hes7 hes family bHLH transcription factor 7 ISS OMIM:122600 | OMIM:277300 | OMIM:608681 | OMIM:609813 | OMIM:613686 MouseDO NCBI chr10:53,824,124...53,828,934
Ensembl chr10:53,825,574...53,828,097 		JBrowse link
G Mesp2 mesoderm posterior bHLH transcription factor 2 ISO ClinVar Annotator: match by term: Spondylocostal dysostosis ClinVar PMID:25741868 NCBI chr 1:133,756,601...133,759,207
Ensembl chr 1:133,756,601...133,759,198 		JBrowse link
G Ripply2 ripply transcriptional repressor 2 ISS OMIM:122600 | OMIM:277300 | OMIM:608681 | OMIM:609813 | OMIM:613686 MouseDO NCBI chr 8:87,974,444...87,979,002
Ensembl chr 8:87,974,776...87,978,969 		JBrowse link
G Tbx6 T-box transcription factor 6 ISO ClinVar Annotator: match by term: Costovertebral segmentation anomalies ClinVar PMID:25564734 PMID:25741868 PMID:28492532 PMID:30636772 PMID:31015262 More... NCBI chr 1:181,387,851...181,392,762
Ensembl chr 1:181,388,684...181,392,593 		JBrowse link
spondylocostal dysostosis 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dll3 delta like canonical Notch ligand 3 ISO ClinVar Annotator: match by term: DLL3-related condition | ClinVar Annotator: match by term: Spondylocostal dysostosis 1, autosomal recessive OMIM
ClinVar		 PMID:2805381 PMID:10742114 PMID:12746394 PMID:12791036 PMID:15200511 More... NCBI chr 1:83,562,011...83,570,008
Ensembl chr 1:83,562,014...83,569,750 		JBrowse link
G Mesp2 mesoderm posterior bHLH transcription factor 2 ISO ClinVar Annotator: match by term: Spondylothoracic Dysostosis ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:133,756,601...133,759,207
Ensembl chr 1:133,756,601...133,759,198 		JBrowse link
G Plekhg2 pleckstrin homology and RhoGEF domain containing G2 ISO ClinVar Annotator: match by term: Spondylocostal dysostosis 1, autosomal recessive ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:83,651,902...83,665,063
Ensembl chr 1:83,647,748...83,665,063 		JBrowse link
G Ripply2 ripply transcriptional repressor 2 ISO ClinVar Annotator: match by term: Spondylothoracic Dysostosis ClinVar PMID:25343988 PMID:25741868 PMID:28492532 NCBI chr 8:87,974,444...87,979,002
Ensembl chr 8:87,974,776...87,978,969 		JBrowse link
spondylocostal dysostosis 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hes7 hes family bHLH transcription factor 7 ISO ClinVar Annotator: match by term: Spondylocostal dysostosis 2, autosomal recessive ClinVar PMID:18775957 NCBI chr10:53,824,124...53,828,934
Ensembl chr10:53,825,574...53,828,097 		JBrowse link
G Lfng LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase ISO ClinVar Annotator: match by term: Spondylocostal dysostosis 2, autosomal recessive ClinVar PMID:16385447 NCBI chr12:14,030,551...14,038,996
Ensembl chr12:14,018,333...14,039,008 		JBrowse link
G Mesp2 mesoderm posterior bHLH transcription factor 2 ISO ClinVar Annotator: match by term: Spondylocostal dysostosis 2, autosomal recessive OMIM
ClinVar		 PMID:9242490 PMID:15122512 PMID:18485326 PMID:24033266 PMID:25741868 More... NCBI chr 1:133,756,601...133,759,207
Ensembl chr 1:133,756,601...133,759,198 		JBrowse link
G Ripply2 ripply transcriptional repressor 2 ISO ClinVar Annotator: match by term: Spondylocostal dysostosis 2, autosomal recessive ClinVar PMID:25343988 PMID:25741868 PMID:28492532 NCBI chr 8:87,974,444...87,979,002
Ensembl chr 8:87,974,776...87,978,969 		JBrowse link
G Tbx6 T-box transcription factor 6 ISO ClinVar Annotator: match by term: Spondylocostal dysostosis 2, autosomal recessive ClinVar PMID:20503311 PMID:23335591 NCBI chr 1:181,387,851...181,392,762
Ensembl chr 1:181,388,684...181,392,593 		JBrowse link
spondylocostal dysostosis 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Brat1 BRCA1-associated ATM activator 1 ISO ClinVar Annotator: match by term: Spondylocostal dysostosis 3, autosomal recessive ClinVar PMID:28492532 NCBI chr12:13,928,889...13,951,760
Ensembl chr12:13,928,898...13,941,248 		JBrowse link
G Lfng LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase ISO ClinVar Annotator: match by term: Spondylocostal dysostosis 3, autosomal recessive OMIM
ClinVar		 PMID:9536098 PMID:16385447 PMID:17576681 PMID:25741868 PMID:28492532 More... NCBI chr12:14,030,551...14,038,996
Ensembl chr12:14,018,333...14,039,008 		JBrowse link
spondylocostal dysostosis 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hes7 hes family bHLH transcription factor 7 ISO ClinVar Annotator: match by term: Spondylocostal dysostosis 4, autosomal recessive OMIM
ClinVar		 PMID:18775957 PMID:20087400 PMID:23897666 PMID:25741868 PMID:28492532 NCBI chr10:53,824,124...53,828,934
Ensembl chr10:53,825,574...53,828,097 		JBrowse link
spondylocostal dysostosis 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aldoa aldolase, fructose-bisphosphate A ISO ClinVar Annotator: match by term: SCOLIOSIS, CONGENITAL, WITH OR WITHOUT RIB ANOMALIES | ClinVar Annotator: match by term: Spondylocostal dysostosis 5 ClinVar PMID:23335591 PMID:23806086 PMID:24088041 PMID:25564734 PMID:25741868 NCBI chr 1:181,402,275...181,407,476
Ensembl chr 1:181,402,275...181,406,182 		JBrowse link
G Aldoart2 aldolase 1 A retrogene 2 ISO ClinVar Annotator: match by term: SCOLIOSIS, CONGENITAL, WITH OR WITHOUT RIB ANOMALIES ClinVar PMID:25741868 NCBI chr 6:72,939,821...72,941,511
Ensembl chr 6:72,939,788...72,941,709 		JBrowse link
G Asphd1 aspartate beta-hydroxylase domain containing 1 ISO ClinVar Annotator: match by term: SCOLIOSIS, CONGENITAL, WITH OR WITHOUT RIB ANOMALIES | ClinVar Annotator: match by term: Spondylocostal dysostosis 5 ClinVar PMID:23335591 PMID:23806086 PMID:24088041 PMID:25564734 PMID:25741868 NCBI chr 1:181,552,968...181,556,902
Ensembl chr 1:181,552,884...181,556,090 		JBrowse link
G C1h16orf54 similar to human chromosome 16 open reading frame 54 ISO ClinVar Annotator: match by term: SCOLIOSIS, CONGENITAL, WITH OR WITHOUT RIB ANOMALIES | ClinVar Annotator: match by term: Spondylocostal dysostosis 5 ClinVar PMID:23335591 PMID:23806086 PMID:24088041 PMID:25564734 PMID:25741868 NCBI chr 1:181,702,447...181,705,128
Ensembl chr 1:181,702,503...181,705,835 		JBrowse link
G C1h16orf92 similar to human chromosome 16 open reading frame 92 ISO ClinVar Annotator: match by term: SCOLIOSIS, CONGENITAL, WITH OR WITHOUT RIB ANOMALIES | ClinVar Annotator: match by term: Spondylocostal dysostosis 5 ClinVar PMID:23335591 PMID:23806086 PMID:24088041 PMID:25564734 PMID:25741868 NCBI chr 1:181,434,524...181,441,000 JBrowse link
G Cdipt CDP-diacylglycerol--inositol 3-phosphatidyltransferase ISO ClinVar Annotator: match by term: SCOLIOSIS, CONGENITAL, WITH OR WITHOUT RIB ANOMALIES | ClinVar Annotator: match by term: Spondylocostal dysostosis 5 ClinVar PMID:23335591 PMID:23806086 PMID:24088041 PMID:25564734 PMID:25741868 NCBI chr 1:181,583,098...181,587,409
Ensembl chr 1:181,583,141...181,587,408 		JBrowse link
G Cdiptos CDIP transferase, opposite strand ISO ClinVar Annotator: match by term: SCOLIOSIS, CONGENITAL, WITH OR WITHOUT RIB ANOMALIES ClinVar PMID:25741868 NCBI chr 1:181,579,385...181,583,017
Ensembl chr 1:181,579,387...181,582,860 		JBrowse link
G Coro1a coronin 1A ISO ClinVar Annotator: match by term: SCOLIOSIS, CONGENITAL, WITH OR WITHOUT RIB ANOMALIES | ClinVar Annotator: match by term: Spondylocostal dysostosis 5 ClinVar PMID:23335591 PMID:23806086 PMID:24088041 PMID:25564734 PMID:25741868 NCBI chr 1:181,295,561...181,300,566
Ensembl chr 1:181,295,562...181,300,534 		JBrowse link
G Doc2a double C2 domain alpha ISO ClinVar Annotator: match by term: SCOLIOSIS, CONGENITAL, WITH OR WITHOUT RIB ANOMALIES | ClinVar Annotator: match by term: Spondylocostal dysostosis 5 ClinVar PMID:23335591 PMID:23806086 PMID:24088041 PMID:25564734 PMID:25741868 NCBI chr 1:181,457,415...181,462,528
Ensembl chr 1:181,458,390...181,462,030 		JBrowse link
G Gdpd3 glycerophosphodiester phosphodiesterase domain containing 3 ISO ClinVar Annotator: match by term: SCOLIOSIS, CONGENITAL, WITH OR WITHOUT RIB ANOMALIES | ClinVar Annotator: match by term: Spondylocostal dysostosis 5 ClinVar PMID:23335591 PMID:23806086 PMID:24088041 PMID:25564734 PMID:25741868 NCBI chr 1:181,373,505...181,383,063
Ensembl chr 1:181,366,626...181,383,063 		JBrowse link
G Hirip3 HIRA interacting protein 3 ISO ClinVar Annotator: match by term: SCOLIOSIS, CONGENITAL, WITH OR WITHOUT RIB ANOMALIES | ClinVar Annotator: match by term: Spondylocostal dysostosis 5 ClinVar PMID:23335591 PMID:23806086 PMID:24088041 PMID:25564734 PMID:25741868 NCBI chr 1:181,472,537...181,475,082
Ensembl chr 1:181,472,056...181,475,079 		JBrowse link
G Ino80e INO80 complex subunit E ISO ClinVar Annotator: match by term: SCOLIOSIS, CONGENITAL, WITH OR WITHOUT RIB ANOMALIES | ClinVar Annotator: match by term: Spondylocostal dysostosis 5 ClinVar PMID:23335591 PMID:23806086 PMID:24088041 PMID:25564734 PMID:25741868 NCBI chr 1:181,461,406...181,472,059
Ensembl chr 1:181,461,408...181,472,469 		JBrowse link
G Kctd13 potassium channel tetramerization domain containing 13 ISO ClinVar Annotator: match by term: SCOLIOSIS, CONGENITAL, WITH OR WITHOUT RIB ANOMALIES | ClinVar Annotator: match by term: Spondylocostal dysostosis 5 ClinVar PMID:23335591 PMID:23806086 PMID:24088041 PMID:25564734 PMID:25741868 NCBI chr 1:181,534,534...181,552,843
Ensembl chr 1:181,534,515...181,552,881 		JBrowse link
G Kif22 kinesin family member 22 ISO ClinVar Annotator: match by term: SCOLIOSIS, CONGENITAL, WITH OR WITHOUT RIB ANOMALIES | ClinVar Annotator: match by term: Spondylocostal dysostosis 5 ClinVar PMID:23335591 PMID:23806086 PMID:24088041 PMID:25564734 PMID:25741868 NCBI chr 1:181,635,347...181,650,351
Ensembl chr 1:181,635,183...181,650,401 		JBrowse link
G Mapk3 mitogen activated protein kinase 3 ISO ClinVar Annotator: match by term: SCOLIOSIS, CONGENITAL, WITH OR WITHOUT RIB ANOMALIES | ClinVar Annotator: match by term: Spondylocostal dysostosis 5 ClinVar PMID:23335591 PMID:23806086 PMID:24088041 PMID:25564734 PMID:25741868 NCBI chr 1:181,366,646...181,372,863
Ensembl chr 1:181,366,637...181,372,863 		JBrowse link
G Maz MYC associated zinc finger protein ISO ClinVar Annotator: match by term: SCOLIOSIS, CONGENITAL, WITH OR WITHOUT RIB ANOMALIES | ClinVar Annotator: match by term: Spondylocostal dysostosis 5 ClinVar PMID:23335591 PMID:23806086 PMID:24088041 PMID:25564734 PMID:25741868 NCBI chr 1:181,629,742...181,635,193
Ensembl chr 1:181,629,729...181,650,408 		JBrowse link
G Mesp2 mesoderm posterior bHLH transcription factor 2 ISO ClinVar Annotator: match by term: Spondylothoracic Dysostosis ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:133,756,601...133,759,207
Ensembl chr 1:133,756,601...133,759,198 		JBrowse link
G Mvp major vault protein ISO ClinVar Annotator: match by term: SCOLIOSIS, CONGENITAL, WITH OR WITHOUT RIB ANOMALIES | ClinVar Annotator: match by term: Spondylocostal dysostosis 5 ClinVar PMID:23335591 PMID:23806086 PMID:24088041 PMID:25564734 PMID:25741868 NCBI chr 1:181,594,734...181,622,336
Ensembl chr 1:181,594,734...181,622,380 		JBrowse link
G Pagr1 Paxip1-associated glutamate-rich protein 1 ISO ClinVar Annotator: match by term: SCOLIOSIS, CONGENITAL, WITH OR WITHOUT RIB ANOMALIES | ClinVar Annotator: match by term: Spondylocostal dysostosis 5 ClinVar PMID:23335591 PMID:23806086 PMID:24088041 PMID:25564734 PMID:25741868 NCBI chr 1:181,622,698...181,625,024 JBrowse link
G Ppp4c protein phosphatase 4, catalytic subunit ISO ClinVar Annotator: match by term: SCOLIOSIS, CONGENITAL, WITH OR WITHOUT RIB ANOMALIES | ClinVar Annotator: match by term: Spondylocostal dysostosis 5 ClinVar PMID:23335591 PMID:23806086 PMID:24088041 PMID:25564734 PMID:25741868 NCBI chr 1:181,392,899...181,399,703
Ensembl chr 1:181,392,923...181,399,659 		JBrowse link
G Prrt2 proline-rich transmembrane protein 2 ISO ClinVar Annotator: match by term: SCOLIOSIS, CONGENITAL, WITH OR WITHOUT RIB ANOMALIES | ClinVar Annotator: match by term: Spondylocostal dysostosis 5 ClinVar PMID:23335591 PMID:23806086 PMID:24088041 PMID:25564734 PMID:25741868 NCBI chr 1:181,625,243...181,628,833
Ensembl chr 1:181,604,545...181,628,850 		JBrowse link
G Qprt quinolinate phosphoribosyltransferase ISO ClinVar Annotator: match by term: SCOLIOSIS, CONGENITAL, WITH OR WITHOUT RIB ANOMALIES | ClinVar Annotator: match by term: Spondylocostal dysostosis 5 ClinVar PMID:23335591 PMID:23806086 PMID:24088041 PMID:25564734 PMID:25741868 NCBI chr 1:181,718,189...181,733,486
Ensembl chr 1:181,718,190...181,733,486 		JBrowse link
G Ripply2 ripply transcriptional repressor 2 ISO ClinVar Annotator: match by term: Spondylothoracic Dysostosis ClinVar PMID:25343988 PMID:25741868 PMID:28492532 NCBI chr 8:87,974,444...87,979,002
Ensembl chr 8:87,974,776...87,978,969 		JBrowse link
G Sez6l2 seizure related 6 homolog like 2 ISO ClinVar Annotator: match by term: SCOLIOSIS, CONGENITAL, WITH OR WITHOUT RIB ANOMALIES | ClinVar Annotator: match by term: Spondylocostal dysostosis 5 ClinVar PMID:23335591 PMID:23806086 PMID:24088041 PMID:25564734 PMID:25741868 NCBI chr 1:181,557,109...181,577,456
Ensembl chr 1:181,557,109...181,577,456 		JBrowse link
G Spn sialophorin ISO ClinVar Annotator: match by term: SCOLIOSIS, CONGENITAL, WITH OR WITHOUT RIB ANOMALIES | ClinVar Annotator: match by term: Spondylocostal dysostosis 5 ClinVar PMID:23335591 PMID:23806086 PMID:24088041 PMID:25564734 PMID:25741868 NCBI chr 1:181,746,937...181,759,564
Ensembl chr 1:181,746,429...181,759,628 		JBrowse link
G Taok2 TAO kinase 2 ISO ClinVar Annotator: match by term: SCOLIOSIS, CONGENITAL, WITH OR WITHOUT RIB ANOMALIES | ClinVar Annotator: match by term: Spondylocostal dysostosis 5 ClinVar PMID:23335591 PMID:23806086 PMID:24088041 PMID:25564734 PMID:25741868 NCBI chr 1:181,475,708...181,494,738
Ensembl chr 1:181,475,711...181,494,613 		JBrowse link
G Tbx6 T-box transcription factor 6 ISO ClinVar Annotator: match by term: SCOLIOSIS, CONGENITAL, WITH OR WITHOUT RIB ANOMALIES | ClinVar Annotator: match by term: Spondylocostal dysostosis 5
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:20503311 PMID:23335591 PMID:23806086 PMID:24088041 PMID:25564734 More... NCBI chr 1:181,387,851...181,392,762
Ensembl chr 1:181,388,684...181,392,593 		JBrowse link
G Tlcd3b TLC domain containing 3B ISO ClinVar Annotator: match by term: SCOLIOSIS, CONGENITAL, WITH OR WITHOUT RIB ANOMALIES | ClinVar Annotator: match by term: Spondylocostal dysostosis 5 ClinVar PMID:23335591 PMID:23806086 PMID:24088041 PMID:25564734 PMID:25741868 NCBI chr 1:181,421,104...181,439,744
Ensembl chr 1:181,422,830...181,439,743 		JBrowse link
G Tmem219 transmembrane protein 219 ISO ClinVar Annotator: match by term: SCOLIOSIS, CONGENITAL, WITH OR WITHOUT RIB ANOMALIES | ClinVar Annotator: match by term: Spondylocostal dysostosis 5 ClinVar PMID:23335591 PMID:23806086 PMID:24088041 PMID:25564734 PMID:25741868 NCBI chr 1:181,496,195...181,509,259
Ensembl chr 1:181,496,192...181,534,472 		JBrowse link
G Ypel3 yippee-like 3 ISO ClinVar Annotator: match by term: SCOLIOSIS, CONGENITAL, WITH OR WITHOUT RIB ANOMALIES | ClinVar Annotator: match by term: Spondylocostal dysostosis 5 ClinVar PMID:23335591 PMID:23806086 PMID:24088041 PMID:25564734 PMID:25741868 NCBI chr 1:181,384,385...181,387,706
Ensembl chr 1:181,384,357...181,387,705 		JBrowse link
G Zg16 zymogen granule protein 16 ISO ClinVar Annotator: match by term: SCOLIOSIS, CONGENITAL, WITH OR WITHOUT RIB ANOMALIES | ClinVar Annotator: match by term: Spondylocostal dysostosis 5 ClinVar PMID:23335591 PMID:23806086 PMID:24088041 PMID:25564734 PMID:25741868 NCBI chr 1:181,657,722...181,660,079
Ensembl chr 1:181,657,722...181,660,079 		JBrowse link
spondylocostal dysostosis 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ripply2 ripply transcriptional repressor 2 ISO ClinVar Annotator: match by term: Spondylocostal dysostosis 6, autosomal recessive OMIM
ClinVar		 PMID:25343988 PMID:25741868 PMID:28492532 NCBI chr 8:87,974,444...87,979,002
Ensembl chr 8:87,974,776...87,978,969 		JBrowse link
Spondylocostal Dysostosis, Autosomal Recessive term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dll3 delta like canonical Notch ligand 3 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:83,562,011...83,570,008
Ensembl chr 1:83,562,014...83,569,750 		JBrowse link
G Hes7 hes family bHLH transcription factor 7 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr10:53,824,124...53,828,934
Ensembl chr10:53,825,574...53,828,097 		JBrowse link
G Lfng LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr12:14,030,551...14,038,996
Ensembl chr12:14,018,333...14,039,008 		JBrowse link
G Mesp2 mesoderm posterior bHLH transcription factor 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:133,756,601...133,759,207
Ensembl chr 1:133,756,601...133,759,198 		JBrowse link
G Ripply2 ripply transcriptional repressor 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 8:87,974,444...87,979,002
Ensembl chr 8:87,974,776...87,978,969 		JBrowse link
spondyloepimetaphyseal dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col2a1 collagen type II alpha 1 chain ISS MouseDO NCBI chr 7:129,098,489...129,127,560
Ensembl chr 7:129,098,786...129,127,546 		JBrowse link
G Ddr2 discoidin domain receptor tyrosine kinase 2 ISO ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia ClinVar NCBI chr13:82,193,623...82,318,229
Ensembl chr13:82,195,463...82,317,363 		JBrowse link
G Mmp13 matrix metallopeptidase 13 ISO ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia ClinVar NCBI chr 8:4,497,960...4,508,239
Ensembl chr 8:4,497,960...4,508,239 		JBrowse link
G Rpl13 ribosomal protein L13 ISO ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia ClinVar PMID:23956136 PMID:25741868 PMID:31630789 NCBI chr19:51,153,990...51,156,541
Ensembl chr19:51,153,924...51,163,014 		JBrowse link
spondyloepimetaphyseal dysplasia with joint laxity term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B3galt6 Beta-1,3-galactosyltransferase 6 ISO ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia with joint laxity ClinVar PMID:23664117 PMID:25741868 PMID:28492532 NCBI chr 5:166,584,202...166,586,338
Ensembl chr 5:166,584,202...166,586,338 		JBrowse link
G Polr1c RNA polymerase I and III subunit C ISO ClinVar Annotator: match by term: Primary bone dysplasia with multiple joint dislocations ClinVar PMID:35325049 NCBI chr 9:14,735,740...14,739,852
Ensembl chr 9:14,735,714...14,739,852 		JBrowse link
G Slc35b2 solute carrier family 35 member B2 ISO ClinVar Annotator: match by term: Primary bone dysplasia with multiple joint dislocations ClinVar PMID:35325049 NCBI chr 9:15,438,594...15,442,227
Ensembl chr 9:15,438,594...15,442,234 		JBrowse link
spondyloepimetaphyseal dysplasia with joint laxity type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B3galt6 Beta-1,3-galactosyltransferase 6 ISO ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with fractures | ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:23664117 PMID:23664118 PMID:24766538 PMID:25741868 PMID:27023906 More... NCBI chr 5:166,584,202...166,586,338
Ensembl chr 5:166,584,202...166,586,338 		JBrowse link
G Sdf4 stromal cell derived factor 4 ISO ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures ClinVar PMID:28492532 NCBI chr 5:166,586,581...166,606,661
Ensembl chr 5:166,586,390...166,604,521 		JBrowse link
G Tnfrsf4 TNF receptor superfamily member 4 ISO ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures ClinVar PMID:28492532 NCBI chr 5:166,606,909...166,609,599
Ensembl chr 5:166,606,909...166,609,599 		JBrowse link
spondyloepimetaphyseal dysplasia with joint laxity type 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kif22 kinesin family member 22 ISO ClinVar Annotator: match by term: KIF22-related condition | ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia with multiple dislocations OMIM
ClinVar		 PMID:12727876 PMID:19277648 PMID:22152677 PMID:22152678 PMID:25256152 More... NCBI chr 1:181,635,347...181,650,351
Ensembl chr 1:181,635,183...181,650,401 		JBrowse link
spondyloepimetaphyseal dysplasia with joint laxity type 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Exoc6b exocyst complex component 6B ISO ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia with joint laxity, type 3 OMIM
ClinVar		 PMID:25741868 PMID:26669664 PMID:30284759 NCBI chr 4:117,094,741...117,550,221
Ensembl chr 4:117,094,741...117,550,180 		JBrowse link
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Matn3 matrilin 3 ISO ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia Matrilin-3 related | ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia, MATN3-related
CTD Direct Evidence: marker/mechanism		 ClinVar
OMIM
CTD		 PMID:14729835 PMID:15121775 PMID:15459972 PMID:20301302 PMID:21965141 More... NCBI chr 6:31,748,517...31,768,564
Ensembl chr 6:31,748,474...31,768,101 		JBrowse link
SPONDYLOEPIMETAPHYSEAL DYSPLASIA, DI ROCCO TYPE term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cfap96 cilia and flagella associated protein 96 ISO ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia, di rocco type ClinVar PMID:25741868 NCBI chr16:46,291,075...46,315,616
Ensembl chr16:46,291,311...46,315,625 		JBrowse link
G Ufsp2 UFM1-specific peptidase 2 ISO ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia, di rocco type OMIM
ClinVar		 PMID:21228277 PMID:25741868 PMID:28892125 PMID:32755715 NCBI chr16:46,272,016...46,291,080
Ensembl chr16:46,272,016...46,291,059 		JBrowse link
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rspry1 ring finger and SPRY domain containing 1 ISO ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type OMIM
ClinVar		 PMID:25741868 PMID:26365341 PMID:28492532 PMID:30063090 NCBI chr19:10,352,449...10,403,015
Ensembl chr19:10,353,821...10,401,102 		JBrowse link
spondyloepimetaphyseal dysplasia, Genevieve-type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nans N-acetylneuraminate synthase ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia, Genevieve type		 OMIM
CTD
ClinVar		 PMID:15726110 PMID:25741868 PMID:27213289 PMID:28492532 PMID:34163424 NCBI chr 5:60,780,441...60,797,583
Ensembl chr 5:60,780,392...60,814,950 		JBrowse link
G Trim14 tripartite motif-containing 14 ISO ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia, Genevieve type ClinVar PMID:15726110 PMID:25741868 PMID:27213289 PMID:28492532 PMID:34163424 NCBI chr 5:60,800,568...60,824,858
Ensembl chr 5:60,800,032...60,824,858 		JBrowse link
Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eri1 exoribonuclease 1 ISO ClinVar Annotator: match by term: ERI1-associated disorder | ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia, Guo-Campeau type OMIM
ClinVar		 PMID:25741868 PMID:37352860 NCBI chr16:56,724,101...56,744,228
Ensembl chr16:56,724,115...56,744,226 		JBrowse link
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rpl13 ribosomal protein L13 ISO ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia, Isidor-Toutain type OMIM
ClinVar		 PMID:23956136 PMID:25741868 PMID:28492532 PMID:31630789 NCBI chr19:51,153,990...51,156,541
Ensembl chr19:51,153,924...51,163,014 		JBrowse link
Spondyloepimetaphyseal Dysplasia, Krakow Type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sik3 SIK family kinase 3 ISO ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia, Krakow type OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:30232230 NCBI chr 8:46,312,253...46,522,444
Ensembl chr 8:46,311,989...46,522,444 		JBrowse link
spondyloepimetaphyseal dysplasia, Missouri type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mmp13 matrix metallopeptidase 13 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: MMP13-related condition | ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia, Missouri type		 OMIM
CTD
ClinVar		 PMID:8412645 PMID:16167086 PMID:25741868 PMID:28492532 PMID:30439533 NCBI chr 8:4,497,960...4,508,239
Ensembl chr 8:4,497,960...4,508,239 		JBrowse link
spondyloepimetaphyseal dysplasia, Pakistani type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Papss2 3'-phosphoadenosine 5'-phosphosulfate synthase 2 ISO
ISS		 ClinVar Annotator: match by term: BRACHYOLMIA TYPE 4 WITH MILD EPIPHYSEAL AND METAPHYSEAL CHANGES | ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia, pakistani type
OMIM:612847
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:9536098 PMID:9714015 PMID:9771708 PMID:16199547 PMID:17576681 More... NCBI chr 1:230,454,314...230,539,332
Ensembl chr 1:230,454,426...230,539,331 		JBrowse link
Spondyloepimetaphyseal Dysplasia, Shohat Type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ddrgk1 DDRGK domain containing 1 ISO ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia, Shohat type OMIM
ClinVar		 PMID:8357004 PMID:25741868 PMID:28263186 PMID:28492532 NCBI chr 3:117,861,916...117,882,680
Ensembl chr 3:117,861,653...117,882,680 		JBrowse link
spondyloepimetaphyseal dysplasia, Sponastrime type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tonsl tonsoku-like, DNA repair protein ISO ClinVar Annotator: match by term: Sponastrime dysplasia | ClinVar Annotator: match by term: TONSL-related condition OMIM
ClinVar		 PMID:9536098 PMID:10797420 PMID:17576681 PMID:25741868 PMID:28492532 More... NCBI chr 7:108,345,704...108,360,792
Ensembl chr 7:108,346,047...108,360,750 		JBrowse link
spondyloepimetaphyseal dysplasia, Strudwick type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col2a1 collagen type II alpha 1 chain ISO ClinVar Annotator: match by term: SMED Strudwick type | ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia, Strudwick type | ClinVar Annotator: match by term: Spondylometaphyseal dysplasia
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:1905723 PMID:7550321 PMID:7695699 PMID:7977371 PMID:8218237 More... NCBI chr 7:129,098,489...129,127,560
Ensembl chr 7:129,098,786...129,127,546 		JBrowse link
G Fn1 fibronectin 1 ISO ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia, Strudwick type | ClinVar Annotator: match by term: Spondylometaphyseal dysplasia ClinVar PMID:1677003 PMID:15666313 PMID:25741868 PMID:28492532 PMID:29100092 More... NCBI chr 9:73,196,044...73,264,695
Ensembl chr 9:73,196,044...73,264,678 		JBrowse link
G Trpv4 transient receptor potential cation channel, subfamily V, member 4 ISO ClinVar Annotator: match by term: Spondylometaphyseal dysplasia ClinVar PMID:28492532 NCBI chr12:41,938,533...41,977,517
Ensembl chr12:41,938,560...41,977,517 		JBrowse link
spondylolysis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc26a2 solute carrier family 26 member 2 ISO DNA:mutations:cds:c.2286A>T(p.D673V), c.1922A>G(p.H641R),g.18654T>C(human) RGD PMID:26077908 RGD:13208868 NCBI chr18:54,648,276...54,666,627
Ensembl chr18:54,652,951...54,666,626 		JBrowse link
spondylometaepiphyseal dysplasia, short limb-hand type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ddr2 discoidin domain receptor tyrosine kinase 2 ISO ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:8434618 PMID:8818447 PMID:11375938 PMID:19110212 PMID:20223752 More... NCBI chr13:82,193,623...82,318,229
Ensembl chr13:82,195,463...82,317,363 		JBrowse link
spondylosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kl Klotho susceptibility ISO RGD PMID:12110410 RGD:10403053 NCBI chr12:490,402...531,417
Ensembl chr12:490,399...530,080 		JBrowse link
subependymal giant cell astrocytoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cacna1a calcium voltage-gated channel subunit alpha1 A ISO ClinVar Annotator: match by term: Subependymal giant-cell astrocytoma ClinVar PMID:25741868 PMID:28492532 NCBI chr19:23,520,741...23,819,971
Ensembl chr19:23,520,741...23,823,225 		JBrowse link
trilateral retinoblastoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rb1 RB transcriptional corepressor 1 ISO ClinVar Annotator: match by term: Trilateral retinoblastoma ClinVar PMID:7704558 PMID:8346255 PMID:8605116 PMID:9400934 PMID:16463005 More... NCBI chr15:48,371,295...48,502,473
Ensembl chr15:48,371,296...48,502,302 		JBrowse link
Tsukahara Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Zfp407 zinc finger protein 407 ISO ClinVar Annotator: match by term: Radioulnar synostosis with microcephaly, short stature, scoliosis, and mental retardation ClinVar PMID:25741868 NCBI chr18:77,571,140...77,970,282
Ensembl chr18:77,571,204...77,974,129 		JBrowse link
vertebral hypersegmentation and orofacial anomalies term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gdf11 growth differentiation factor 11 ISO ClinVar Annotator: match by term: Vertebral hypersegmentation and orofacial anomalies OMIM
ClinVar		 PMID:25741868 PMID:31215115 NCBI chr 7:1,311,732...1,325,211
Ensembl chr 7:1,311,732...1,320,725 		JBrowse link
X-linked spondyloepimetaphyseal dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcd1 ATP binding cassette subfamily D member 1 ISO ClinVar Annotator: match by term: X-linked spondyloepimetaphyseal dysplasia ClinVar PMID:7825602 PMID:7849723 PMID:8040304 PMID:8651290 PMID:9088111 More... NCBI chr  X:151,428,334...151,450,115
Ensembl chr  X:151,428,578...151,450,115 		JBrowse link
G Bgn biglycan ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: X-linked spondyloepimetaphyseal dysplasia		 OMIM
CTD
ClinVar		 PMID:8064814 PMID:25741868 PMID:27236923 PMID:28492532 NCBI chr  X:151,197,296...151,209,458
Ensembl chr  X:151,197,273...151,209,461 		JBrowse link
X-linked Spondyloepimetaphyseal Dysplasia with Hypomyelinating Leukodystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aifm1 apoptosis inducing factor, mitochondria associated 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: SEMD X-linked with mental deterioration | ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia, X-linked, with hypomyelinating leukodystrophy		 OMIM
CTD
ClinVar		 PMID:10486082 PMID:16924009 PMID:23239615 PMID:25741868 PMID:27102849 More... NCBI chr  X:127,650,223...127,689,356
Ensembl chr  X:127,650,226...127,689,256 		JBrowse link
G Rab33a RAB33A, member RAS oncogene family ISO ClinVar Annotator: match by term: SEMD X-linked with mental deterioration | ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia, X-linked, with hypomyelinating leukodystrophy ClinVar PMID:10486082 PMID:16924009 PMID:23239615 PMID:25741868 PMID:27102849 More... NCBI chr  X:127,694,219...127,706,378
Ensembl chr  X:127,694,964...127,706,378 		JBrowse link
X-linked spondyloepiphyseal dysplasia tarda term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ofd1 Ofd1 centriole and centriolar satellite protein ISO ClinVar Annotator: match by term: SED TARDA, X-LINKED | ClinVar Annotator: match by term: Spondyloepiphyseal dysplasia tarda, X-linked ClinVar PMID:9536098 PMID:11326333 PMID:11349230 PMID:15221797 PMID:17576681 More... NCBI chr  X:28,015,347...28,056,115
Ensembl chr  X:28,015,347...28,056,110 		JBrowse link
G Trappc2 trafficking protein particle complex subunit 2 ISO ClinVar Annotator: match by term: SED TARDA, X-LINKED | ClinVar Annotator: match by term: Spondyloepiphyseal dysplasia tarda, X-linked OMIM
ClinVar		 PMID:9536098 PMID:11326333 PMID:11349230 PMID:15221797 PMID:17576681 More... NCBI chr  X:28,004,051...28,015,336
Ensembl chr  X:27,994,054...28,015,346 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      musculoskeletal system disease 8306
        bone disease 4302
          spinal disease 1135
            Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy 2
            Intervertebral Disc Displacement + 17
            KBG syndrome 42
            Klippel-Feil syndrome + 52
            Laplane Fontaine Lagardere Syndrome 0
            Microcephaly with Cervical Spine Fusion Anomalies 0
            Ossification of Posterior Longitudinal Ligament + 2
            Platybasia + 0
            Spinal Curvatures + 83
            Spinal Neoplasms 0
            Spinal Osteochondrosis + 2
            Spinal Osteophytosis + 1
            Spondylocamptodactyly 0
            X-linked spondyloepiphyseal dysplasia tarda 2
            achondrogenesis type IA 43
            acromesomelic dysplasia, Maroteaux type 86
            atelosteogenesis + 2
            autosomal dominant osteopetrosis 2 1
            chronic recurrent multifocal osteomyelitis + 18
            dropped head syndrome 0
            high grade glioma + 703
            lethal congenital contracture syndrome + 12
            spinal chordoma + 0
            spondylitis + 44
            spondylocostal dysostosis + 37
            spondyloepimetaphyseal dysplasia + 88
            spondylosis + 2
            vertebral hypersegmentation and orofacial anomalies 1
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      musculoskeletal system disease 8306
        connective tissue disease 5786
          bone disease 4302
            spinal disease 1135
              Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy 2
              Intervertebral Disc Displacement + 17
              KBG syndrome 42
              Klippel-Feil syndrome + 52
              Laplane Fontaine Lagardere Syndrome 0
              Microcephaly with Cervical Spine Fusion Anomalies 0
              Ossification of Posterior Longitudinal Ligament + 2
              Platybasia + 0
              Spinal Curvatures + 83
              Spinal Neoplasms 0
              Spinal Osteochondrosis + 2
              Spinal Osteophytosis + 1
              Spondylocamptodactyly 0
              X-linked spondyloepiphyseal dysplasia tarda 2
              achondrogenesis type IA 43
              acromesomelic dysplasia, Maroteaux type 86
              atelosteogenesis + 2
              autosomal dominant osteopetrosis 2 1
              chronic recurrent multifocal osteomyelitis + 18
              dropped head syndrome 0
              high grade glioma + 703
              lethal congenital contracture syndrome + 12
              spinal chordoma + 0
              spondylitis + 44
              spondylocostal dysostosis + 37
              spondyloepimetaphyseal dysplasia + 88
              spondylosis + 2
              vertebral hypersegmentation and orofacial anomalies 1
paths to the root