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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, beta ISO spondylocarpotarsal syndrome,OMIM:272460;DNA:frameshift:6408delC,DNA:point mutation:exons:R818X,R1607X RGD PMID:14991055 RGD:1601168 NCBI chr14:14,518,185...14,651,852
Ensembl chr14:14,518,185...14,651,816
JBrowse link
G Penk preproenkephalin ISO mRNA:increased expression:hypothalamus: RGD PMID:11501038 RGD:10003114 NCBI chr 4:4,133,536...4,138,815
Ensembl chr 4:4,133,531...4,138,819
JBrowse link
G Tsc1 TSC complex subunit 1 IAGP MouseDO NCBI chr 2:28,531,005...28,581,183
Ensembl chr 2:28,531,240...28,581,179
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 chr12:103,287,401...103,322,260
Ensembl chr12:103,287,401...103,322,260
JBrowse link
G Atxn3 ataxin 3 ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr12:101,885,160...101,928,139
Ensembl chr12:101,885,160...101,924,505
JBrowse link
G Btbd7 BTB domain containing 7 ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr12:102,747,056...102,844,733
Ensembl chr12:102,747,056...102,844,730
JBrowse link
G Calm1 calmodulin 1 ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr12:100,165,694...100,176,083
Ensembl chr12:100,165,694...100,176,073
JBrowse link
G Catsperb cation channel sperm associated auxiliary subunit beta ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr12:101,370,904...101,592,268
Ensembl chr12:101,370,912...101,592,268
JBrowse link
G Ccdc88c coiled-coil domain containing 88C ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr12:100,877,778...100,995,610
Ensembl chr12:100,877,782...100,995,315
JBrowse link
G Chga chromogranin A ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr12:102,521,200...102,531,286
Ensembl chr12:102,521,228...102,531,287
JBrowse link
G Cox8c cytochrome c oxidase subunit 8C ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr12:102,865,565...102,866,793
Ensembl chr12:102,865,575...102,866,785
JBrowse link
G Cpsf2 cleavage and polyadenylation specific factor 2 ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr12:101,940,345...101,972,252
Ensembl chr12:101,942,247...101,972,683
JBrowse link
G Ddx24 DEAD box helicase 24 ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr12:103,374,235...103,392,106
Ensembl chr12:103,374,241...103,392,089
JBrowse link
G Dglucy D-glutamate cyclase ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr12:100,745,316...100,838,869
Ensembl chr12:100,745,316...100,863,240
JBrowse link
G Fam181a family with sequence similarity 181, member A ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr12:103,277,272...103,283,326
Ensembl chr12:103,277,234...103,283,324
JBrowse link
G Fbln5 fibulin 5 ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr12:101,712,820...101,785,541
Ensembl chr12:101,712,824...101,785,314
JBrowse link
G Golga5 golgin A5 ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr12:102,435,372...102,464,274
Ensembl chr12:102,435,394...102,464,166
JBrowse link
G Gon7 GON7 subunit of KEOPS complex ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr12:102,719,534...102,724,069
Ensembl chr12:102,719,534...102,724,062
JBrowse link
G Gpr68 G protein-coupled receptor 68 ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr12:100,842,941...100,874,457
Ensembl chr12:100,842,941...100,874,457
JBrowse link
G Ifi27 interferon, alpha-inducible protein 27 ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr12:103,400,448...103,406,504
Ensembl chr12:103,400,470...103,406,498
JBrowse link
G Ifi27l2a interferon, alpha-inducible protein 27 like 2A ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr12:103,400,132...103,409,939
Ensembl chr12:103,408,426...103,409,939
JBrowse link
G Itpk1 inositol 1,3,4-triphosphate 5/6 kinase ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr12:102,534,842...102,671,128
Ensembl chr12:102,534,841...102,671,189
JBrowse link
G Kcnk13 potassium channel, subfamily K, member 13 ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr12:99,928,132...100,028,941
Ensembl chr12:99,930,758...100,028,941
JBrowse link
G Lgmn legumain ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr12:102,360,341...102,405,987
Ensembl chr12:102,360,343...102,406,072
JBrowse link
G Lyset lysosomal enzyme trafficking factor ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr12:102,709,978...102,714,551
Ensembl chr12:102,710,021...102,713,820
JBrowse link
G Moap1 modulator of apoptosis 1 ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr12:102,706,089...102,709,920
Ensembl chr12:102,708,489...102,709,920
JBrowse link
G Ndufb1 NADH:ubiquinone oxidoreductase subunit B1 ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr12:101,934,355...101,941,997
Ensembl chr12:101,934,349...101,943,327
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 chr12:100,091,709...100,126,981
Ensembl chr12:100,091,711...100,125,912
JBrowse link
G Otub2 OTU domain, ubiquitin aldehyde binding 2 ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr12:103,343,244...103,372,609
Ensembl chr12:103,354,941...103,372,609
JBrowse link
G Ppp4r3a protein phosphatase 4 regulatory subunit 3A ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr12:101,005,668...101,051,721
Ensembl chr12:101,005,668...101,049,961
JBrowse link
G Ppp4r4 protein phosphatase 4, regulatory subunit 4 ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr12:103,498,509...103,580,098
Ensembl chr12:103,498,542...103,580,090
JBrowse link
G Prima1 proline rich membrane anchor 1 ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr12:103,160,712...103,208,967
Ensembl chr12:103,163,167...103,208,409
JBrowse link
G Psmc1 protease (prosome, macropain) 26S subunit, ATPase 1 ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr12:100,076,461...100,089,623
Ensembl chr12:100,076,413...100,089,664
JBrowse link
G Rin3 Ras and Rab interactor 3 ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr12:102,248,572...102,358,982
Ensembl chr12:102,249,307...102,357,114
JBrowse link
G Rps6ka5 ribosomal protein S6 kinase, polypeptide 5 ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr12:100,514,692...100,691,693
Ensembl chr12:100,514,698...100,693,242
JBrowse link
G Serpina10 serine (or cysteine) peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10 ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr12:103,582,934...103,597,681
Ensembl chr12:103,581,045...103,597,703
JBrowse link
G Serpina1f serine (or cysteine) peptidase inhibitor, clade A, member 1F ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr12:103,654,303...103,661,788
Ensembl chr12:103,654,303...103,661,788
JBrowse link
G Serpina6 serine (or cysteine) peptidase inhibitor, clade A, member 6 ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr12:103,612,889...103,623,477
Ensembl chr12:103,612,889...103,623,471
JBrowse link
G Slc24a4 solute carrier family 24 (sodium/potassium/calcium exchanger), member 4 ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr12:102,094,986...102,239,562
Ensembl chr12:102,094,992...102,233,350
JBrowse link
G Tc2n tandem C2 domains, nuclear ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr12:101,611,705...101,685,178
Ensembl chr12:101,611,702...101,684,782
JBrowse link
G Tdp1 tyrosyl-DNA phosphodiesterase 1 ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr12:99,850,767...99,921,482
Ensembl chr12:99,850,776...99,921,478
JBrowse link
G Trip11 thyroid hormone receptor interactor 11 ISO
IAGP
ClinVar Annotator: match by term: Achondrogenesis, type IA
CTD Direct Evidence: marker/mechanism
OMIM:200600
OMIM
ClinVar
CTD
MouseDO
PMID:200899 PMID:2008997 PMID:9536098 PMID:16199547 PMID:17576681 More... NCBI chr12:101,800,304...101,879,463
Ensembl chr12:101,800,302...101,879,526
JBrowse link
G Ttc7b tetratricopeptide repeat domain 7B ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr12:100,267,029...100,487,134
Ensembl chr12:100,267,029...100,487,085
JBrowse link
G Ubr7 ubiquitin protein ligase E3 component n-recognin 7 (putative) ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr12:102,724,234...102,743,960
Ensembl chr12:102,724,226...102,743,966
JBrowse link
G Unc79 unc-79 homolog ISO ClinVar Annotator: match by term: Achondrogenesis, type IA ClinVar PMID:28492532 NCBI chr12:102,913,642...103,150,487
Ensembl chr12:102,915,118...103,150,324
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 4:40,682,078...40,703,206
Ensembl chr 4:40,682,382...40,703,194
JBrowse link
G Aqp3 aquaporin 3 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 4:41,092,724...41,098,183
Ensembl chr 4:41,092,722...41,098,183
JBrowse link
G Aqp7 aquaporin 7 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 4:41,033,074...41,048,237
Ensembl chr 4:41,033,074...41,048,139
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 4:43,496,139...43,508,747
Ensembl chr 4:43,496,142...43,499,695
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 4:41,723,830...41,731,226
Ensembl chr 4:41,723,836...41,731,142
JBrowse link
G Atosb atos homolog B ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 4:43,032,414...43,046,220
Ensembl chr 4:43,032,414...43,046,220
JBrowse link
G B4galt1 UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 1 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 4:40,804,602...40,855,711
Ensembl chr 4:40,804,602...40,854,005
JBrowse link
G Bag1 BCL2-associated athanogene 1 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 4:40,936,398...40,948,294
Ensembl chr 4:40,936,398...40,948,294
JBrowse link
G Car9 carbonic anhydrase 9 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 4:43,507,026...43,513,729
Ensembl chr 4:43,506,966...43,513,729
JBrowse link
G Ccdc107 coiled-coil domain containing 107 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 4:43,493,365...43,495,921
Ensembl chr 4:43,492,900...43,495,921
JBrowse link
G Ccin calicin ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 4:43,983,504...43,985,533
Ensembl chr 4:43,983,483...43,985,423
JBrowse link
G Ccl19 C-C motif chemokine ligand 19 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 4:42,754,525...42,756,558
Ensembl chr 4:42,754,525...42,756,577
JBrowse link
G Ccl21a C-C motif chemokine ligand 21 (serine) ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 4:42,772,860...42,773,991
Ensembl chr 4:42,772,860...42,773,993
JBrowse link
G Ccl27a C-C motif chemokine ligand 27A ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 4:41,769,467...41,774,251
Ensembl chr 4:41,769,467...41,774,247
JBrowse link
G Cd72 CD72 antigen ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 4:43,447,724...43,454,708
Ensembl chr 4:43,446,462...43,454,628
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 4:40,948,553...40,965,302
Ensembl chr 4:40,948,407...40,965,303
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 4:43,427,014...43,431,451
Ensembl chr 4:43,427,019...43,429,134
JBrowse link
G Clta clathrin light chain A ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 4:44,003,816...44,032,846
Ensembl chr 4:44,004,452...44,032,846
JBrowse link
G Cntfr ciliary neurotrophic factor receptor ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 4:41,657,498...41,697,091
Ensembl chr 4:41,657,498...41,697,089
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 4:43,562,658...43,567,061
Ensembl chr 4:43,562,332...43,567,060
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 4:41,291,300...41,316,749
Ensembl chr 4:41,291,300...41,314,889
JBrowse link
G Dctn3 dynactin 3 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 4:41,714,798...41,723,213
Ensembl chr 4:41,714,798...41,723,170
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 4:41,569,731...41,638,158
Ensembl chr 4:41,569,775...41,638,158
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 4:40,722,468...40,734,965
Ensembl chr 4:40,722,150...40,737,149
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 4:42,949,866...42,959,425
Ensembl chr 4:42,949,814...42,959,425
JBrowse link
G Enho energy homeostasis associated ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 4:41,638,144...41,640,302
Ensembl chr 4:41,638,144...41,640,324
JBrowse link
G Exosc3 exosome component 3 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 4:45,316,613...45,320,616
Ensembl chr 4:45,316,613...45,342,732
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 4:41,517,691...41,569,538
Ensembl chr 4:41,517,691...41,569,538
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 4:43,659,622...43,668,859
Ensembl chr 4:43,659,622...43,669,145
JBrowse link
G Fancg Fanconi anemia, complementation group G ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 4:43,002,337...43,010,565
Ensembl chr 4:43,002,343...43,010,506
JBrowse link
G Fbxo10 F-box protein 10 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 4:45,034,248...45,084,555
Ensembl chr 4:45,034,247...45,084,604
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 4:45,183,958...45,285,936
Ensembl chr 4:45,184,875...45,285,936
JBrowse link
G Galt galactose-1-phosphate uridyl transferase ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 4:41,755,517...41,759,243
Ensembl chr 4:41,755,228...41,758,695
JBrowse link
G Gba2 glucosidase beta 2 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 4:43,566,928...43,578,893
Ensembl chr 4:43,566,928...43,578,873
JBrowse link
G Glipr2 GLI pathogenesis-related 2 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 4:43,957,702...43,979,118
Ensembl chr 4:43,957,401...43,979,118
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 4:44,034,075...44,084,177
Ensembl chr 4:44,034,075...44,084,177
JBrowse link
G Grhpr glyoxylate reductase/hydroxypyruvate reductase ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 4:44,981,394...44,990,734
Ensembl chr 4:44,981,395...44,990,734
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 4:43,654,227...43,656,445
Ensembl chr 4:43,654,227...43,656,466
JBrowse link
G Hrct1 histidine rich carboxyl terminus 1 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 4:43,727,198...43,728,110
Ensembl chr 4:43,727,188...43,728,639
JBrowse link
G Il11ra1 interleukin 11 receptor subunit alpha 1 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 4:41,760,443...41,769,473
Ensembl chr 4:41,699,989...41,769,474
JBrowse link
G Kif24 kinesin family member 24 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 4:41,389,774...41,464,918
Ensembl chr 4:41,390,745...41,464,887
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 4:44,300,876...44,364,301
Ensembl chr 4:44,300,876...44,364,675
JBrowse link
G Msmp microseminoprotein, prostate associated ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 4:43,583,216...43,584,494
Ensembl chr 4:43,583,216...43,584,494
JBrowse link
G Myorg myogenesis regulating glycosidase (putative) ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 4:41,495,601...41,503,132
Ensembl chr 4:41,495,604...41,503,076
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 4:40,270,591...40,279,421
Ensembl chr 4:40,270,591...40,279,421
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 4:40,970,906...41,025,992
Ensembl chr 4:40,970,906...41,025,993
JBrowse link
G Nol6 nucleolar protein family 6 (RNA-associated) ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 4:41,114,427...41,124,450
Ensembl chr 4:41,114,427...41,124,455
JBrowse link
G Npr2 natriuretic peptide receptor 2 ISO
IAGP
ClinVar Annotator: match by term: ACROMESOMELIC DYSPLASIA 1 | ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type
CTD Direct Evidence: marker/mechanism
OMIM:602875
OMIM
ClinVar
CTD
MouseDO
PMID:9536098 PMID:15146390 PMID:15572448 PMID:16199547 PMID:16384845 More... NCBI chr 4:43,629,015...43,651,437
Ensembl chr 4:43,631,935...43,651,244
JBrowse link
G Nudt2 nudix hydrolase 2 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 4:41,465,085...41,480,926
Ensembl chr 4:41,465,151...41,480,926
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 4:43,854,292...43,855,463
Ensembl chr 4:43,851,565...43,857,595
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 4:43,705,628...43,706,566
Ensembl chr 4:43,704,562...43,710,255
JBrowse link
G Pax5 paired box 5 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 4:44,524,748...44,710,694
Ensembl chr 4:44,524,757...44,710,487
JBrowse link
G Phf24 PHD finger protein 24 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 4:42,872,619...42,944,752
Ensembl chr 4:42,916,660...42,944,752
JBrowse link
G Pigo phosphatidylinositol glycan anchor biosynthesis, class O ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 4:43,016,964...43,026,369
Ensembl chr 4:43,017,635...43,025,819
JBrowse link
G Polr1e polymerase (RNA) I polypeptide E ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 4:45,018,609...45,034,279
Ensembl chr 4:45,018,583...45,036,565
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 4:43,875,521...43,944,806
Ensembl chr 4:43,875,530...43,944,806
JBrowse link
G Rgp1 RAB6A GEF compex partner 1 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 4:43,578,735...43,587,487
Ensembl chr 4:43,578,715...43,587,487
JBrowse link
G Rigi RNA sensor RIG-I ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 4:40,203,775...40,239,843
Ensembl chr 4:40,203,773...40,239,828
JBrowse link
G Rmrp RNA component of mitochondrial RNAase P ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 4:43,492,785...43,493,059
Ensembl chr 4:43,492,788...43,493,058
Ensembl chr 4:43,492,788...43,493,058
JBrowse link
G Rnf38 ring finger protein 38 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 4:44,126,210...44,233,929
Ensembl chr 4:44,126,210...44,233,789
JBrowse link
G Rpp25l ribonuclease P/MRP 25 subunit-like ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 4:41,712,033...41,713,517
Ensembl chr 4:41,712,033...41,713,534
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 4:43,377,202...43,427,088
Ensembl chr 4:43,381,979...43,427,088
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 4:41,738,493...41,741,359
Ensembl chr 4:41,738,493...41,756,157
JBrowse link
G Sit1 suppression inducing transmembrane adaptor 1 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 4:43,482,083...43,483,709
Ensembl chr 4:43,482,081...43,483,734
JBrowse link
G Smu1 smu-1 suppressor of mec-8 and unc-52 homolog (C. elegans) ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 4:40,735,649...40,757,885
Ensembl chr 4:40,736,542...40,757,923
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 4:43,651,330...43,653,594
Ensembl chr 4:43,651,335...43,653,594
JBrowse link
G Spata31f1a spermatogenesis associated 31 subfamily F member 1A ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 4:42,848,067...42,856,138
Ensembl chr 4:42,848,071...42,853,888
Ensembl chr 4:42,848,071...42,853,888
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 4:42,969,946...42,974,325
Ensembl chr 4:42,969,604...42,983,640
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 4:40,920,056...40,931,395
Ensembl chr 4:40,920,052...40,931,395
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 4:41,505,005...41,517,333
Ensembl chr 4:41,505,009...41,517,333
JBrowse link
G Stoml2 stomatin (Epb7.2)-like 2 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 4:43,027,690...43,031,402
Ensembl chr 4:43,027,690...43,031,710
JBrowse link
G Tesk1 testis specific protein kinase 1 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 4:43,442,277...43,448,075
Ensembl chr 4:43,441,939...43,448,064
JBrowse link
G Tln1 talin 1 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 4:43,531,513...43,562,583
Ensembl chr 4:43,531,519...43,562,691
JBrowse link
G Tmem215 transmembrane protein 215 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 4:40,472,180...40,475,653
Ensembl chr 4:40,472,180...40,477,168
JBrowse link
G Tmem8b transmembrane protein 8B ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 4:43,668,971...43,692,668
Ensembl chr 4:43,668,971...43,692,668
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 4:45,105,209...45,108,113
Ensembl chr 4:45,105,208...45,108,114
JBrowse link
G Topors topoisomerase I binding, arginine/serine-rich ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 4:40,259,606...40,269,841
Ensembl chr 4:40,259,601...40,269,850
JBrowse link
G Tpm2 tropomyosin 2, beta ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 4:43,513,726...43,523,583
Ensembl chr 4:43,514,711...43,523,765
JBrowse link
G Trmt10b tRNA methyltransferase 10B ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 4:45,297,158...45,316,181
Ensembl chr 4:45,297,127...45,316,131
JBrowse link
G Try4 trypsin 4 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 6:41,279,206...41,282,467
Ensembl chr 6:41,279,203...41,282,466
JBrowse link
G Ubap1 ubiquitin-associated protein 1 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 4:41,348,996...41,389,766
Ensembl chr 4:41,348,996...41,390,525
JBrowse link
G Ubap2 ubiquitin-associated protein 2 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 4:41,194,313...41,276,016
Ensembl chr 4:41,194,313...41,275,144
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 4:41,136,021...41,193,370
Ensembl chr 4:41,135,743...41,193,380
JBrowse link
G Unc13b unc-13 homolog B ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 4:43,046,193...43,264,873
Ensembl chr 4:43,058,953...43,264,871
JBrowse link
G Vcp valosin containing protein ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 4:42,979,964...43,000,507
Ensembl chr 4:42,979,963...43,000,507
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 4:44,991,242...45,012,412
Ensembl chr 4:44,991,242...45,012,412
JBrowse link
G Zcchc7 zinc finger, CCHC domain containing 7 ISO ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type ClinVar PMID:28492532 NCBI chr 4:44,756,556...44,932,215
Ensembl chr 4:44,755,877...44,932,215
JBrowse link
Adult Cerebral Astrocytoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mmp1a matrix metallopeptidase 1a (interstitial collagenase) susceptibility ISO DNA:insertion:promoter:g.-1607insG (human) RGD PMID:17502998 RGD:7207034 NCBI chr 9:7,464,141...7,476,870
Ensembl chr 9:7,464,141...7,476,857
JBrowse link
G Mmp1b matrix metallopeptidase 1b (interstitial collagenase) susceptibility ISO DNA:insertion:promoter:g.-1607insG (human) RGD PMID:17502998 RGD:7207034 NCBI chr 9:7,367,670...7,388,026
Ensembl chr 9:7,368,239...7,388,047
JBrowse link
adult spinal cord ependymoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chd6 chromodomain helicase DNA binding protein 6 ISO ClinVar Annotator: match by term: Adult spinal cord ependymoma ClinVar NCBI chr 2:160,788,898...160,951,006
Ensembl chr 2:160,788,898...160,950,995
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:104,841,221...104,972,978
Ensembl chr  X:104,841,221...104,973,009
JBrowse link
G Kras Kirsten rat sarcoma viral oncogene homolog ISO mRNA:decreased expression:brain RGD PMID:19179066 RGD:13702872 NCBI chr 6:145,162,425...145,197,631
Ensembl chr 6:145,162,425...145,195,965
JBrowse link
G Trp53 transformation related protein 53 ISO ClinVar Annotator: match by term: Astrocytoma, anaplastic ClinVar PMID:1349175 PMID:1565143 PMID:1565144 PMID:1591732 PMID:1631137 More... NCBI chr11:69,471,174...69,482,699
Ensembl chr11:69,471,185...69,482,699
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 7:121,706,485...121,732,203
Ensembl chr 7:121,706,485...121,732,208
JBrowse link
G Rnf213 ring finger protein 213 ISO ClinVar Annotator: match by term: Anaplastic ependymoma ClinVar PMID:26822237 NCBI chr11:119,280,778...119,378,245
Ensembl chr11:119,283,926...119,378,244
JBrowse link
G Runx1 runt related transcription factor 1 ISO ClinVar Annotator: match by term: Anaplastic ependymoma ClinVar PMID:23753029 PMID:25741868 PMID:26580448 PMID:28492532 PMID:28801348 More... NCBI chr16:92,398,354...92,622,962
Ensembl chr16:92,398,354...92,623,037
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 7:24,967,054...24,993,584
Ensembl chr 7:24,967,129...24,993,584
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 4:43,496,139...43,508,747
Ensembl chr 4:43,496,142...43,499,695
JBrowse link
G Arid3c AT-rich interaction domain 3C ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 4:41,723,830...41,731,226
Ensembl chr 4:41,723,836...41,731,142
JBrowse link
G Atosb atos homolog B ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 4:43,032,414...43,046,220
Ensembl chr 4:43,032,414...43,046,220
JBrowse link
G Car9 carbonic anhydrase 9 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 4:43,507,026...43,513,729
Ensembl chr 4:43,506,966...43,513,729
JBrowse link
G Ccdc107 coiled-coil domain containing 107 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:8034306 PMID:9156319 PMID:10026268 PMID:11207361 PMID:11940090 More... NCBI chr 4:43,493,365...43,495,921
Ensembl chr 4:43,492,900...43,495,921
JBrowse link
G Ccin calicin ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 4:43,983,504...43,985,533
Ensembl chr 4:43,983,483...43,985,423
JBrowse link
G Ccl19 C-C motif chemokine ligand 19 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 4:42,754,525...42,756,558
Ensembl chr 4:42,754,525...42,756,577
JBrowse link
G Ccl21a C-C motif chemokine ligand 21 (serine) ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 4:42,772,860...42,773,991
Ensembl chr 4:42,772,860...42,773,993
JBrowse link
G Ccl27a C-C motif chemokine ligand 27A ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 4:41,769,467...41,774,251
Ensembl chr 4:41,769,467...41,774,247
JBrowse link
G Cd72 CD72 antigen ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 4:43,447,724...43,454,708
Ensembl chr 4:43,446,462...43,454,628
JBrowse link
G Cimip2b ciliary microtubule inner protein 2B ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 4:43,427,014...43,431,451
Ensembl chr 4:43,427,019...43,429,134
JBrowse link
G Clta clathrin light chain A ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 4:44,003,816...44,032,846
Ensembl chr 4:44,004,452...44,032,846
JBrowse link
G Cntfr ciliary neurotrophic factor receptor ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 4:41,657,498...41,697,091
Ensembl chr 4:41,657,498...41,697,089
JBrowse link
G Creb3 cAMP responsive element binding protein 3 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 4:43,562,658...43,567,061
Ensembl chr 4:43,562,332...43,567,060
JBrowse link
G Dctn3 dynactin 3 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 4:41,714,798...41,723,213
Ensembl chr 4:41,714,798...41,723,170
JBrowse link
G Dnai1 dynein axonemal intermediate chain 1 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 4:41,569,731...41,638,158
Ensembl chr 4:41,569,775...41,638,158
JBrowse link
G Dnajb5 DnaJ heat shock protein family (Hsp40) member B5 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 4:42,949,866...42,959,425
Ensembl chr 4:42,949,814...42,959,425
JBrowse link
G Enho energy homeostasis associated ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 4:41,638,144...41,640,302
Ensembl chr 4:41,638,144...41,640,324
JBrowse link
G Fam219a family with sequence similarity 219, member A ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 4:41,517,691...41,569,538
Ensembl chr 4:41,517,691...41,569,538
JBrowse link
G Fam221b family with sequence similarity 221, member B ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 4:43,659,622...43,668,859
Ensembl chr 4:43,659,622...43,669,145
JBrowse link
G Fancg Fanconi anemia, complementation group G ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 4:43,002,337...43,010,565
Ensembl chr 4:43,002,343...43,010,506
JBrowse link
G Galt galactose-1-phosphate uridyl transferase ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 4:41,755,517...41,759,243
Ensembl chr 4:41,755,228...41,758,695
JBrowse link
G Gba2 glucosidase beta 2 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 4:43,566,928...43,578,893
Ensembl chr 4:43,566,928...43,578,873
JBrowse link
G Glipr2 GLI pathogenesis-related 2 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 4:43,957,702...43,979,118
Ensembl chr 4:43,957,401...43,979,118
JBrowse link
G Gm21586 predicted gene, 21586 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 4:42,438,686...42,448,653
Ensembl chr 4:42,438,970...42,439,970
JBrowse link
G Gne glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 4:44,034,075...44,084,177
Ensembl chr 4:44,034,075...44,084,177
JBrowse link
G Hint2 histidine triad nucleotide binding protein 2 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 4:43,654,227...43,656,445
Ensembl chr 4:43,654,227...43,656,466
JBrowse link
G Hrct1 histidine rich carboxyl terminus 1 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 4:43,727,198...43,728,110
Ensembl chr 4:43,727,188...43,728,639
JBrowse link
G Il11ra1 interleukin 11 receptor subunit alpha 1 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 4:41,760,443...41,769,473
Ensembl chr 4:41,699,989...41,769,474
JBrowse link
G Msmp microseminoprotein, prostate associated ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 4:43,583,216...43,584,494
Ensembl chr 4:43,583,216...43,584,494
JBrowse link
G Myorg myogenesis regulating glycosidase (putative) ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 4:41,495,601...41,503,132
Ensembl chr 4:41,495,604...41,503,076
JBrowse link
G Npr2 natriuretic peptide receptor 2 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 4:43,629,015...43,651,437
Ensembl chr 4:43,631,935...43,651,244
JBrowse link
G Or13c7 olfactory receptor family 13 subfamily C member 7 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 4:43,854,292...43,855,463
Ensembl chr 4:43,851,565...43,857,595
JBrowse link
G Or13j1 olfactory receptor family 13 subfamily J member 1 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 4:43,705,628...43,706,566
Ensembl chr 4:43,704,562...43,710,255
JBrowse link
G Phf24 PHD finger protein 24 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 4:42,872,619...42,944,752
Ensembl chr 4:42,916,660...42,944,752
JBrowse link
G Pigo phosphatidylinositol glycan anchor biosynthesis, class O ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 4:43,016,964...43,026,369
Ensembl chr 4:43,017,635...43,025,819
JBrowse link
G Reck reversion-inducing-cysteine-rich protein with kazal motifs ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 4:43,875,521...43,944,806
Ensembl chr 4:43,875,530...43,944,806
JBrowse link
G Rgp1 RAB6A GEF compex partner 1 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 4:43,578,735...43,587,487
Ensembl chr 4:43,578,715...43,587,487
JBrowse link
G Rmrp RNA component of mitochondrial RNAase P ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:8034306 PMID:9156319 PMID:10026268 PMID:11152140 PMID:11207361 More... NCBI chr 4:43,492,785...43,493,059
Ensembl chr 4:43,492,788...43,493,058
Ensembl chr 4:43,492,788...43,493,058
JBrowse link
G Rpp25l ribonuclease P/MRP 25 subunit-like ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 4:41,712,033...41,713,517
Ensembl chr 4:41,712,033...41,713,534
JBrowse link
G Rusc2 RUN and SH3 domain containing 2 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 4:43,377,202...43,427,088
Ensembl chr 4:43,381,979...43,427,088
JBrowse link
G Sigmar1 sigma non-opioid intracellular receptor 1 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 4:41,738,493...41,741,359
Ensembl chr 4:41,738,493...41,756,157
JBrowse link
G Sit1 suppression inducing transmembrane adaptor 1 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 4:43,482,083...43,483,709
Ensembl chr 4:43,482,081...43,483,734
JBrowse link
G Spaar small regulatory polypeptide of amino acid response ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 4:43,730,045...43,732,084
Ensembl chr 4:43,730,034...43,759,462
JBrowse link
G Spag8 sperm associated antigen 8 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 4:43,651,330...43,653,594
Ensembl chr 4:43,651,335...43,653,594
JBrowse link
G Spata31f1a spermatogenesis associated 31 subfamily F member 1A ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 4:42,848,067...42,856,138
Ensembl chr 4:42,848,071...42,853,888
Ensembl chr 4:42,848,071...42,853,888
JBrowse link
G Spata31f3 spermatogenesis associated 31 subfamily F member 3 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 4:42,867,999...42,874,234
Ensembl chr 4:42,868,004...42,874,234
JBrowse link
G Spata31g1 SPATA31 subfamily G member 1 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 4:42,969,946...42,974,325
Ensembl chr 4:42,969,604...42,983,640
JBrowse link
G Spmip6 sperm microtubule inner protein 6 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 4:41,505,005...41,517,333
Ensembl chr 4:41,505,009...41,517,333
JBrowse link
G Stoml2 stomatin (Epb7.2)-like 2 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 4:43,027,690...43,031,402
Ensembl chr 4:43,027,690...43,031,710
JBrowse link
G Tesk1 testis specific protein kinase 1 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 4:43,442,277...43,448,075
Ensembl chr 4:43,441,939...43,448,064
JBrowse link
G Tln1 talin 1 ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 4:43,531,513...43,562,583
Ensembl chr 4:43,531,519...43,562,691
JBrowse link
G Tmem8b transmembrane protein 8B ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 4:43,668,971...43,692,668
Ensembl chr 4:43,668,971...43,692,668
JBrowse link
G Tpm2 tropomyosin 2, beta ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 4:43,513,726...43,523,583
Ensembl chr 4:43,514,711...43,523,765
JBrowse link
G Unc13b unc-13 homolog B ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 4:43,046,193...43,264,873
Ensembl chr 4:43,058,953...43,264,871
JBrowse link
G Vcp valosin containing protein ISO ClinVar Annotator: match by term: Anauxetic dysplasia ClinVar PMID:28492532 NCBI chr 4:42,979,964...43,000,507
Ensembl chr 4:42,979,963...43,000,507
JBrowse link
anauxetic dysplasia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccdc107 coiled-coil domain containing 107 ISO ClinVar Annotator: match by term: Anauxetic dysplasia 1 ClinVar PMID:8034306 PMID:9156319 PMID:10026268 PMID:11207361 PMID:11940090 More... NCBI chr 4:43,493,365...43,495,921
Ensembl chr 4:43,492,900...43,495,921
JBrowse link
G Pop1 processing of precursor 1, ribonuclease P/MRP family, (S. cerevisiae) ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr15:34,495,457...34,530,799
Ensembl chr15:34,495,450...34,530,794
JBrowse link
G Rmrp RNA component of mitochondrial RNAase P ISO ClinVar Annotator: match by term: Anauxetic dysplasia 1 | ClinVar Annotator: match by term: SPONDYLOMETAEPIPHYSEAL DYSPLASIA, ANAUXETIC TYPE | ClinVar Annotator: match by term: Spondylometaepiphyseal dysplasia Menger type
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:8034306 PMID:8723091 PMID:9156319 PMID:10026268 PMID:11207361 More... NCBI chr 4:43,492,785...43,493,059
Ensembl chr 4:43,492,788...43,493,058
Ensembl chr 4:43,492,788...43,493,058
JBrowse link
anauxetic dysplasia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pop1 processing of precursor 1, ribonuclease P/MRP family, (S. cerevisiae) ISO ClinVar Annotator: match by term: Anauxetic dysplasia 2 OMIM
ClinVar
PMID:21455487 PMID:25741868 PMID:27380734 PMID:28067412 PMID:28492532 More... NCBI chr15:34,495,457...34,530,799
Ensembl chr15:34,495,450...34,530,794
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 chr16:44,544,645...44,559,994
Ensembl chr16:44,544,664...44,557,647
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 chr11:105,858,774...105,880,790
Ensembl chr11:105,858,771...105,880,790
JBrowse link
G Adipoq adiponectin, C1Q and collagen domain containing ISO protein:increased expression:serum RGD PMID:21122270 RGD:5686891 NCBI chr16:22,965,286...22,976,718
Ensembl chr16:22,965,286...22,976,778
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 chr15:95,688,724...95,873,353
Ensembl chr15:95,688,724...95,872,632
JBrowse link
G Antxr2 anthrax toxin receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20062062 PMID:21743469 NCBI chr 5:98,032,547...98,178,876
Ensembl chr 5:98,030,642...98,178,902
JBrowse link
G Aspn asporin susceptibility ISO DNA:repeats:exon: RGD PMID:20144272 RGD:9684964 NCBI chr13:49,697,919...49,721,041
Ensembl chr13:49,697,919...49,721,041
JBrowse link
G Card9 caspase recruitment domain family, member 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21743469 NCBI chr 2:26,242,199...26,250,957
Ensembl chr 2:26,242,188...26,250,930
JBrowse link
G Crp C-reactive protein, pentraxin-related disease_progression ISO protein:increased expression:serum: RGD PMID:22422197 PMID:6605119 RGD:6482308, RGD:9491788 NCBI chr 1:172,525,623...172,527,533
Ensembl chr 1:172,525,622...172,660,598
JBrowse link
G Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 ISO DNA:polymorphism: :4887C>A (human) RGD PMID:12880680 RGD:1581252 NCBI chr 9:57,595,211...57,611,107
Ensembl chr 9:57,595,211...57,611,107
JBrowse link
G Erap1 endoplasmic reticulum aminopeptidase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17952073 PMID:20062062 PMID:21743469 PMID:23291587 NCBI chr13:74,787,692...74,841,321
Ensembl chr13:74,787,687...74,841,320
JBrowse link
G Fcgr4 Fc receptor, IgG, low affinity IV severity ISO protein:decreased expression:polymorphonuclear leucocyte RGD PMID:8453794 RGD:5508388 NCBI chr 1:170,846,495...170,857,330
Ensembl chr 1:170,846,489...170,857,330
JBrowse link
G H2-Aa histocompatibility 2, class II antigen A, alpha severity ISO DNA:polymorphism:cds:HLA-DQA1*0401 (human) RGD PMID:19565552 RGD:5147611 NCBI chr17:34,501,718...34,506,797
Ensembl chr17:34,501,718...34,506,797
JBrowse link
G H2-Ab1 histocompatibility 2, class II antigen A, beta 1 severity ISO DNA:polymorphism:cds:HLA-DQB1*0603 (human) RGD PMID:19565552 RGD:5147611 NCBI chr17:34,482,201...34,488,392
Ensembl chr17:34,476,663...34,488,393
JBrowse link
G H2-Eb1 histocompatibility 2, class II antigen E beta severity ISO DNA:polymorphisms:cds:HLA-DRB1*0801, HLA-DRB1*0804 (human) RGD PMID:19565552 RGD:5147611 NCBI chr17:34,524,841...34,535,648
Ensembl chr17:34,524,841...34,535,648
JBrowse link
G H2-M2 histocompatibility 2, M region locus 2 susceptibility
no_association
ISO CTD Direct Evidence: marker/mechanism
DNA:polymorphisms:cds:HLA-B27, HLA-B60 (human, Caucasian)
DNA:polymorphism:cds:HLA-B2705 (human)
CTD
RGD
PMID:8053961 PMID:8733445 PMID:21743469 PMID:21927904 PMID:22138694 RGD:10755579 RGD:7364914 NCBI chr17:37,791,742...37,794,445
Ensembl chr17:37,791,742...37,794,443
JBrowse link
G H2-Q4 histocompatibility 2, Q region locus 4 susceptibility ISO DNA:polymorphisms:cds:HLA-B27, HLA-B60 (human, Caucasian) RGD PMID:8733445 RGD:7364914 NCBI chr17:35,598,593...35,603,650
Ensembl chr17:35,598,593...35,604,266
JBrowse link
G Igfbp3 insulin-like growth factor binding protein 3 ISO protein:decreased expression:serum RGD PMID:9851264 RGD:10402573 NCBI chr11:7,156,086...7,165,498
Ensembl chr11:7,156,086...7,163,923
JBrowse link
G Il12b interleukin 12b ISO CTD Direct Evidence: marker/mechanism CTD PMID:21743469 NCBI chr11:44,290,890...44,305,504
Ensembl chr11:44,290,890...44,304,860
JBrowse link
G Il17a interleukin 17A treatment ISO RGD PMID:24035250 RGD:9068448 NCBI chr 1:20,801,129...20,804,720
Ensembl chr 1:20,801,129...20,804,720
JBrowse link
G Il1r2 interleukin 1 receptor, type II ISO CTD Direct Evidence: marker/mechanism CTD PMID:20062062 NCBI chr 1:40,123,872...40,164,390
Ensembl chr 1:40,113,239...40,164,391
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 6:67,399,906...67,468,838
Ensembl chr 6:67,399,916...67,468,839
JBrowse link
G Il6 interleukin 6 ISO protein:increased expression:serum: RGD PMID:26339141 RGD:12792209 NCBI chr 5:30,218,112...30,224,973
Ensembl chr 5:30,218,112...30,224,979
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:73,057,520...73,067,527
Ensembl chr  X:73,057,520...73,067,524
JBrowse link
G Jak2 Janus kinase 2 susceptibility ISO DNA:SNPs, haplotype:introns: (rs1536798, rs10119004, rs7857730) (human) RGD PMID:20627814 RGD:6483025 NCBI chr19:29,229,006...29,290,495
Ensembl chr19:29,229,228...29,290,480
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 6:120,341,060...120,421,535
Ensembl chr 6:120,341,085...120,421,535
JBrowse link
G Mthfr methylenetetrahydrofolate reductase susceptibility ISO DNA:SNP:cds:677C>T (human) RGD PMID:25060515 RGD:42722610 NCBI chr 4:148,123,534...148,144,019
Ensembl chr 4:148,123,534...148,144,008
JBrowse link
G Pgf placental growth factor ISO RGD PMID:21873332 RGD:6483576 NCBI chr12:85,213,413...85,224,087
Ensembl chr12:85,213,409...85,224,564
JBrowse link
G Psmb9 proteasome (prosome, macropain) subunit, beta type 9 (large multifunctional peptidase 2) ISO DNA: snp: rs17587 RGD PMID:22034108 RGD:6483349 NCBI chr17:34,401,006...34,406,347
Ensembl chr17:34,400,961...34,406,738
JBrowse link
G Ptger4 prostaglandin E receptor 4 (subtype EP4) ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:21743469 PMID:21743469 RGD:6483530 NCBI chr15:5,262,880...5,273,668
Ensembl chr15:5,236,142...5,273,668
JBrowse link
G Runx3 runt related transcription factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21743469 NCBI chr 4:134,847,956...134,905,301
Ensembl chr 4:134,847,963...134,905,301
JBrowse link
G Tap1 transporter 1, ATP-binding cassette, sub-family B (MDR/TAP) ISO DNA:SNPs: : RGD PMID:19480848 RGD:6482250 NCBI chr17:34,406,530...34,416,199
Ensembl chr17:34,406,527...34,416,199
JBrowse link
G Tap2 transporter 2, ATP-binding cassette, sub-family B (MDR/TAP) ISO DNA:SNPs: : RGD PMID:19480848 RGD:6482250 NCBI chr17:34,423,453...34,435,295
Ensembl chr17:34,422,501...34,435,295
JBrowse link
G Tbkbp1 TBK1 binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21743469 NCBI chr11:97,026,997...97,042,332
Ensembl chr11:97,026,997...97,042,321
JBrowse link
G Thbd thrombomodulin ISO protein:increased expression:serum RGD PMID:21556780 RGD:5684983 NCBI chr 2:148,246,391...148,250,108
Ensembl chr 2:148,246,386...148,250,108
JBrowse link
G Tlr4 toll-like receptor 4 ISO mRNA:increased expression:blood cell: RGD PMID:20952467 RGD:7794744 NCBI chr 4:66,745,788...66,765,338
Ensembl chr 4:66,745,821...66,848,521
JBrowse link
G Tlr5 toll-like receptor 5 ISO mRNA:increased expression:blood cell: RGD PMID:20952467 RGD:7794744 NCBI chr 1:182,782,317...182,804,010
Ensembl chr 1:182,782,353...182,804,010
JBrowse link
G Tnfrsf1b tumor necrosis factor receptor superfamily, member 1b ISO RGD PMID:21317434 RGD:5131280 NCBI chr 4:144,938,938...144,973,453
Ensembl chr 4:144,940,033...144,973,440
JBrowse link
G Vip vasoactive intestinal polypeptide ISO protein:increased expression:plasma RGD PMID:20340024 RGD:5685387 NCBI chr10:5,589,131...5,597,617
Ensembl chr10:5,589,218...5,597,617
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:52,138,280...52,138,364
Ensembl chr  X:52,138,280...52,138,364
JBrowse link
G Pik3r1 phosphoinositide-3-kinase regulatory subunit 1 severity ISO RGD PMID:26956052 PMID:26286747 RGD:11343921, RGD:13782052 NCBI chr13:101,817,269...101,904,725
Ensembl chr13:101,817,071...101,904,725
JBrowse link
astroblastoma, MN1-altered term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 4930550C14Rik RIKEN cDNA 4930550C14 gene ISO ClinVar Annotator: match by term: Astroblastoma, MN1-altered ClinVar PMID:17344846 PMID:20305132 PMID:25741868 PMID:25980754 PMID:26206375 More... NCBI chr 9:53,313,814...53,345,726
Ensembl chr 9:53,313,625...53,345,702
JBrowse link
G Atm ataxia telangiectasia mutated ISO ClinVar Annotator: match by term: Astroblastoma, MN1-altered ClinVar PMID:17344846 PMID:20305132 PMID:25741868 PMID:25980754 PMID:26206375 More... NCBI chr 9:53,348,422...53,448,125
Ensembl chr 9:53,350,449...53,448,040
JBrowse link
G Tsc2 TSC complex subunit 2 ISO ClinVar Annotator: match by term: Astroblastoma, MN1-altered ClinVar PMID:25741868 PMID:28492532 NCBI chr17:24,814,788...24,851,607
Ensembl chr17:24,814,790...24,851,604
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 (sulfate transporter), member 2 ISO ClinVar Annotator: match by term: Atelosteogenesis ClinVar NCBI chr18:61,329,926...61,344,668
Ensembl chr18:61,325,991...61,344,684
JBrowse link
Atelosteogenesis Type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Flnb filamin, beta ISO ClinVar Annotator: match by term: Atelosteogenesis type 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 chr14:14,518,185...14,651,852
Ensembl chr14:14,518,185...14,651,816
JBrowse link
Atelosteogenesis Type 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc26a2 solute carrier family 26 (sulfate transporter), member 2 ISO CTD Direct Evidence: marker/mechanism
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
OMIM
CTD
ClinVar
PMID:4644462 PMID:7695699 PMID:7923357 PMID:8218237 PMID:8528239 More... NCBI chr18:61,329,926...61,344,668
Ensembl chr18:61,325,991...61,344,684
JBrowse link
Atelosteogenesis Type 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Flnb filamin, beta ISO ClinVar Annotator: match by term: Atelosteogenesis type 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 chr14:14,518,185...14,651,852
Ensembl chr14:14,518,185...14,651,816
JBrowse link
autosomal dominant osteopetrosis 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clcn7 chloride channel, voltage-sensitive 7 ISO
IAGP
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 chr17:25,352,353...25,381,077
Ensembl chr17:25,352,365...25,381,078
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 chr10:81,012,465...81,018,343
Ensembl chr10:81,012,465...81,018,332
JBrowse link
G Mir139 microRNA 139 ISO RNA:decreased expression:brain: RGD PMID:26449464 RGD:13838722 NCBI chr 7:101,124,583...101,124,650
Ensembl chr 7:101,124,583...101,124,650
JBrowse link
G Ncam1 neural cell adhesion molecule 1 disease_progression ISO RGD PMID:20219118 RGD:40924672 NCBI chr 9:49,413,434...49,710,909
Ensembl chr 9:49,413,436...49,710,225
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 chr19:46,385,335...46,477,243
Ensembl chr19:46,385,335...46,477,243
JBrowse link
brain glioma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adam3 ADAM metallopeptidase domain 3 ISO DNA:deletion RGD PMID:21138945 RGD:13831351 NCBI chr 8:25,167,248...25,216,393
Ensembl chr 8:25,167,241...25,215,868
JBrowse link
G Bax BCL2-associated X protein treatment ISO RGD PMID:27255231 PMID:29324390 RGD:13792502, RGD:13792598 NCBI chr 7:45,111,124...45,116,332
Ensembl chr 7:45,111,121...45,116,322
JBrowse link
G Bcl2 B cell leukemia/lymphoma 2 treatment ISO RGD PMID:27255231 PMID:29324390 RGD:13792502, RGD:13792598 NCBI chr 1:106,465,906...106,642,020
Ensembl chr 1:106,465,908...106,642,004
JBrowse link
G Birc3 baculoviral IAP repeat-containing 3 exacerbates ISO mRNA:increased expression:brain (human) RGD PMID:31964418 RGD:153344516 NCBI chr 9:7,848,698...7,873,199
Ensembl chr 9:7,848,700...7,873,187
JBrowse link
G Birc5 baculoviral IAP repeat-containing 5 exacerbates ISO mRNA:increased expression:brain (human) RGD PMID:31964418 RGD:153344516 NCBI chr11:117,740,063...117,746,569
Ensembl chr11:117,740,077...117,746,569
JBrowse link
G Bst2 bone marrow stromal cell antigen 2 IEP mRNA,protein:increased expression:brain: RGD PMID:21565182 RGD:14398497 NCBI chr 8:71,986,899...71,990,116
Ensembl chr 8:71,986,899...71,990,100
JBrowse link
G Casp3 caspase 3 treatment ISO RGD PMID:29324390 RGD:13792598 NCBI chr 8:47,070,326...47,092,733
Ensembl chr 8:47,070,326...47,092,724
JBrowse link
G Fadd Fas associated via death domain treatment ISO RGD PMID:27255231 RGD:13792502 NCBI chr 7:144,132,060...144,136,178
Ensembl chr 7:144,131,055...144,136,200
JBrowse link
G Fas Fas cell surface death receptor treatment ISO RGD PMID:29324390 RGD:13792598 NCBI chr19:34,267,926...34,305,175
Ensembl chr19:34,268,066...34,305,172
JBrowse link
G Fasl Fas ligand treatment ISO RGD PMID:29324390 RGD:13792598 NCBI chr 1:161,608,260...161,616,064
Ensembl chr 1:161,608,258...161,616,064
JBrowse link
G Foxa1 forkhead box A1 disease_progression ISO RGD PMID:23510544 RGD:151665742 NCBI chr12:57,585,750...57,594,815
Ensembl chr12:57,587,414...57,593,702
JBrowse link
G Gapdh glyceraldehyde-3-phosphate dehydrogenase ISO RGD PMID:26032618 RGD:13792685 NCBI chr 6:125,138,812...125,143,450
Ensembl chr 6:125,138,678...125,143,430
JBrowse link
G Kdr kinase insert domain protein receptor ISO protein:increased expression:brain (human) RGD PMID:33900414 RGD:151660356 NCBI chr 5:76,093,487...76,139,880
Ensembl chr 5:76,093,487...76,139,118
JBrowse link
G Mir21a microRNA 21a ISO human cells in mouse model; RNA:increased expression:brain (human) RGD PMID:25059666 RGD:152998875 NCBI chr11:86,474,893...86,474,984
Ensembl chr11:86,474,893...86,474,984
JBrowse link
G Naip2 NLR family, apoptosis inhibitory protein 2 exacerbates ISO mRNA:increased expression:brain (human) RGD PMID:31964418 RGD:153344516 NCBI chr13:100,280,571...100,338,630
Ensembl chr13:100,280,571...100,338,600
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 chr10:116,111,407...116,225,443
Ensembl chr10:116,111,428...116,225,440
JBrowse link
G Vegfa vascular endothelial growth factor A ISO protein:increased expression:brain (human) RGD PMID:33900414 RGD:151660356 NCBI chr17:46,327,919...46,343,303
Ensembl chr17:46,327,919...46,343,295
JBrowse link
G Xrcc1 X-ray repair complementing defective repair in Chinese hamster cells 1 susceptibility ISO DNA:SNP:exon 10: p.R399Q (human) RGD PMID:18330515 RGD:401827274 NCBI chr 7:24,246,124...24,272,863
Ensembl chr 7:24,245,714...24,272,865
JBrowse link
G Xrcc3 X-ray repair complementing defective repair in Chinese hamster cells 3 susceptibility ISO DNA:SNP:exon 8: p.T241M (rs861539) (Human) RGD PMID:18330515 RGD:401827274 NCBI chr12:111,769,626...111,780,326
Ensembl chr12:111,769,626...111,780,307
JBrowse link
brain stem glioma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pax3 paired box 3 IEP mRNA,protein:increased expression:brain stem: RGD PMID:25330836 RGD:13702891 NCBI chr 1:78,077,904...78,173,773
Ensembl chr 1:78,077,904...78,173,771
JBrowse link
G Pdgfra platelet derived growth factor receptor, alpha polypeptide severity ISO RGD PMID:20197468 RGD:13702892 NCBI chr 5:75,311,988...75,358,867
Ensembl chr 5:75,312,953...75,358,876
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 6:122,582,362...122,587,046
Ensembl chr 6:122,582,362...122,587,046
JBrowse link
G Myh7 myosin, heavy polypeptide 7, cardiac muscle, beta ISO ClinVar Annotator: match by term: Bent Spine Syndrome ClinVar PMID:12707239 PMID:23861362 PMID:24033266 PMID:24793961 PMID:25467552 More... NCBI chr14:55,208,141...55,232,083
Ensembl chr14:55,208,141...55,232,083
JBrowse link
G Polg polymerase (DNA directed), gamma ISO ClinVar Annotator: match by term: Bent Spine Syndrome ClinVar PMID:16621917 PMID:17452231 PMID:18546365 PMID:19189930 PMID:19578034 More... NCBI chr 7:79,095,979...79,117,659
Ensembl chr 7:79,095,979...79,116,110
JBrowse link
G Rrm2b ribonucleotide reductase M2 B (TP53 inducible) ISO ClinVar Annotator: match by term: Bent Spine Syndrome ClinVar PMID:17486094 PMID:21378381 PMID:24741716 PMID:25741868 PMID:28492532 More... NCBI chr15:37,924,196...37,961,562
Ensembl chr15:37,924,196...37,961,562
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 domain containing 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 4:21,675,865...21,685,963
Ensembl chr 4:21,677,480...21,685,963
JBrowse link
cerebellar medulloblastoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Msh6 mutS homolog 6 ISO ClinVar Annotator: match by term: Cerebellar medulloblastoma ClinVar NCBI chr17:88,282,478...88,298,320
Ensembl chr17:88,282,490...88,298,320
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 7:130,537,933...130,587,388
Ensembl chr 7:130,537,841...130,587,390
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 2:180,961,504...180,998,409
Ensembl chr 2:180,961,532...180,998,409
JBrowse link
childhood pilocytic astrocytoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mapk1 mitogen-activated protein kinase 1 ISO protein:increased expression:brain: RGD PMID:21466243 RGD:13702864 NCBI chr16:16,801,246...16,865,317
Ensembl chr16:16,801,246...16,865,317
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 chr11:107,824,213...108,237,360
Ensembl chr11:107,824,213...108,234,754
JBrowse link
chromosome 13q14 deletion syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 4933427D06Rik RIKEN cDNA 4933427D06 gene ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr 6:89,073,092...89,087,021
Ensembl chr 6:89,073,092...89,087,013
JBrowse link
G Acod1 aconitate decarboxylase 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:103,284,448...103,294,009
Ensembl chr14:103,284,413...103,294,009
JBrowse link
G Alg11 ALG11 alpha-1,2-mannosyltransferase ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr 8:22,550,731...22,561,643
Ensembl chr 8:22,550,737...22,561,643
JBrowse link
G Arl11 ADP-ribosylation factor-like 11 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:61,543,740...61,549,386
Ensembl chr14:61,547,202...61,549,385
JBrowse link
G Atp7b ATPase, Cu++ transporting, beta polypeptide ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr 8:22,482,799...22,550,347
Ensembl chr 8:22,482,801...22,550,321
JBrowse link
G Bora bora, aurora kinase A activator ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:99,283,880...99,311,976
Ensembl chr14:99,283,658...99,311,976
JBrowse link
G Cab39l calcium binding protein 39-like ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:59,678,400...59,786,353
Ensembl chr14:59,678,421...59,823,213
JBrowse link
G Ccdc70 coiled-coil domain containing 70 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr 8:22,459,791...22,464,071
Ensembl chr 8:22,459,791...22,464,057
JBrowse link
G Cdadc1 cytidine and dCMP deaminase domain containing 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:59,796,837...59,835,433
Ensembl chr14:59,796,837...59,835,408
JBrowse link
G Ckap2 cytoskeleton associated protein 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr 8:22,658,168...22,675,835
Ensembl chr 8:22,658,176...22,675,835
JBrowse link
G Cln5 ceroid-lipofuscinosis, neuronal 5 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:103,307,679...103,315,064
Ensembl chr14:103,307,652...103,315,064
JBrowse link
G Cnmd chondromodulin ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:79,875,126...79,899,596
Ensembl chr14:79,875,130...79,899,610
JBrowse link
G Commd6 COMM domain containing 6 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:101,871,202...101,877,907
Ensembl chr14:101,870,417...101,878,122
JBrowse link
G Cysltr2 cysteinyl leukotriene receptor 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:73,263,043...73,286,554
Ensembl chr14:73,263,043...73,286,554
JBrowse link
G Dach1 dachshund family transcription factor 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:98,024,294...98,407,208
Ensembl chr14:98,024,289...98,407,201
JBrowse link
G Diaph3 diaphanous related formin 3 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:86,892,793...87,378,683
Ensembl chr14:86,892,803...87,378,671
JBrowse link
G Dis3 DIS3 homolog, exosome endoribonuclease and 3'-5' exoribonuclease ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:99,314,070...99,337,217
Ensembl chr14:99,312,642...99,337,206
JBrowse link
G Dleu7 deleted in lymphocytic leukemia, 7 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:62,513,678...62,530,428
Ensembl chr14:62,513,680...62,530,496
JBrowse link
G Ebpl emopamil binding protein-like ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:61,577,212...61,597,894
Ensembl chr14:61,569,191...61,597,888
JBrowse link
G Ednrb endothelin receptor type B ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:104,052,055...104,081,764
Ensembl chr14:104,052,061...104,081,838
JBrowse link
G Fam124a family with sequence similarity 124, member A ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:62,793,186...62,845,935
Ensembl chr14:62,793,186...62,845,935
JBrowse link
G Fbxl3 F-box and leucine-rich repeat protein 3 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:103,318,470...103,337,016
Ensembl chr14:103,317,675...103,337,002
JBrowse link
G Fndc3a fibronectin type III domain containing 3A ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:72,775,388...72,948,141
Ensembl chr14:72,775,386...72,947,443
JBrowse link
G Gm4131 predicted gene 4131 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:62,699,937...62,718,604
Ensembl chr14:62,700,863...62,804,370
JBrowse link
G Gm45935 predicted gene, 45935 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:59,618,282...59,678,329 JBrowse link
G Ints6 integrator complex subunit 6 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:62,913,774...62,998,617
Ensembl chr14:62,913,779...62,998,618
JBrowse link
G Itm2b integral membrane protein 2B ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:73,599,666...73,622,729
Ensembl chr14:73,599,666...73,622,729
JBrowse link
G Kcnrg potassium channel regulator ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:61,844,905...61,850,282
Ensembl chr14:61,844,906...61,850,275
JBrowse link
G Kctd12 potassium channel tetramerisation domain containing 12 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:103,214,017...103,220,073
Ensembl chr14:103,214,017...103,220,073
JBrowse link
G Klf12 Kruppel-like transcription factor 12 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:100,103,617...100,719,681
Ensembl chr14:100,108,068...100,522,115
JBrowse link
G Klf5 Kruppel-like transcription factor 5 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:99,536,127...99,550,848
Ensembl chr14:99,536,127...99,552,472
JBrowse link
G Klhl1 kelch-like 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:96,342,695...96,756,525
Ensembl chr14:96,340,172...96,756,538
JBrowse link
G Kpna3 karyopherin subunit alpha 3 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:61,602,635...61,677,396
Ensembl chr14:61,602,660...61,677,323
JBrowse link
G Krtap21-1 keratin associated protein 21-1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr16:89,199,915...89,200,662
Ensembl chr16:89,200,106...89,200,756
JBrowse link
G Lmo7 LIM domain only 7 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:101,967,353...102,172,144
Ensembl chr14:101,967,393...102,172,146
JBrowse link
G Lpar6 lysophosphatidic acid receptor 6 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:73,475,331...73,477,798
Ensembl chr14:73,475,335...73,480,734
JBrowse link
G Med4 mediator complex subunit 4 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:73,747,489...73,755,985
Ensembl chr14:73,747,465...73,756,289
JBrowse link
G Mir15a microRNA 15a ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:61,869,476...61,869,559
Ensembl chr14:61,869,476...61,869,559
JBrowse link
G Mir16-1 microRNA 16-1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:61,869,329...61,869,421
Ensembl chr14:61,869,329...61,869,421
JBrowse link
G Mir759 microRNA 759 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:79,975,871...79,975,968
Ensembl chr14:79,975,871...79,975,968
JBrowse link
G Mycbp2 MYC binding protein 2, E3 ubiquitin protein ligase ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:103,350,847...103,584,276
Ensembl chr14:103,350,847...103,584,250
JBrowse link
G Mzt1 mitotic spindle organizing protein 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:99,271,980...99,283,898
Ensembl chr14:99,271,980...99,283,570
JBrowse link
G Ndfip2 Nedd4 family interacting protein 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:105,495,975...105,546,732
Ensembl chr14:105,496,008...105,546,732
JBrowse link
G Nek3 NIMA (never in mitosis gene a)-related expressed kinase 3 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr 8:22,618,299...22,657,009
Ensembl chr 8:22,618,299...22,656,451
JBrowse link
G Nek5 NIMA (never in mitosis gene a)-related expressed kinase 5 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr 8:22,563,631...22,615,443
Ensembl chr 8:22,563,632...22,615,069
JBrowse link
G Nudt15 nudix hydrolase 15 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:73,756,320...73,785,682
Ensembl chr14:73,756,317...73,785,682
JBrowse link
G Obi1 ORC ubiquitin ligase 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:104,714,970...104,760,148
Ensembl chr14:104,714,972...104,760,081
JBrowse link
G Olfm4 olfactomedin 4 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:80,237,742...80,260,581
Ensembl chr14:80,221,521...80,260,579
JBrowse link
G Pcdh17 protocadherin 17 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:84,680,626...84,775,005
Ensembl chr14:84,681,003...84,776,442
JBrowse link
G Pcdh20 protocadherin 20 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:88,702,183...88,708,832
Ensembl chr14:88,702,179...88,708,832
JBrowse link
G Pcdh8 protocadherin 8 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:80,004,224...80,008,752
Ensembl chr14:80,004,215...80,008,752
JBrowse link
G Pcdh9 protocadherin 9 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:93,251,136...94,132,619
Ensembl chr14:93,250,846...94,128,115
JBrowse link
G Phf11d PHD finger protein 11D ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:59,584,646...59,608,004
Ensembl chr14:59,584,856...59,602,919
JBrowse link
G Pibf1 progesterone immunomodulatory binding factor 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:99,336,892...99,492,335
Ensembl chr14:99,336,860...99,491,929
JBrowse link
G Pou4f1 POU domain, class 4, transcription factor 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:104,699,111...104,705,554
Ensembl chr14:104,699,112...104,705,435
JBrowse link
G Rb1 RB transcriptional corepressor 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:73,430,298...73,563,446
Ensembl chr14:73,421,113...73,563,262
JBrowse link
G Rbm26 RNA binding motif protein 26 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:105,344,187...105,418,475
Ensembl chr14:105,344,187...105,414,763
JBrowse link
G Rcbtb1 regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:59,438,471...59,474,716
Ensembl chr14:59,438,658...59,474,714
JBrowse link
G Rcbtb2 regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:73,376,185...73,421,495
Ensembl chr14:73,360,477...73,445,283
JBrowse link
G Rnaseh2b ribonuclease H2, subunit B ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:62,569,517...62,610,445
Ensembl chr14:62,530,038...62,610,441
JBrowse link
G Scel sciellin ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:103,750,499...103,850,782
Ensembl chr14:103,750,778...103,850,233
JBrowse link
G Serpine3 serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 3 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:62,900,743...62,929,692
Ensembl chr14:62,901,116...62,929,692
JBrowse link
G Setdb2 SET domain, bifurcated 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:59,639,458...59,678,329
Ensembl chr14:59,639,458...59,678,333
JBrowse link
G Slain1 SLAIN motif family, member 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:103,887,664...103,942,343
Ensembl chr14:103,887,664...103,942,343
JBrowse link
G Slitrk1 SLIT and NTRK-like family, member 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:109,147,420...109,151,671
Ensembl chr14:109,146,232...109,151,590
JBrowse link
G Slitrk6 SLIT and NTRK-like family, member 6 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:110,984,770...110,992,640
Ensembl chr14:110,986,012...110,992,581
JBrowse link
G Spry2 sprouty RTK signaling antagonist 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:106,129,381...106,134,559
Ensembl chr14:106,129,381...106,134,253
JBrowse link
G Spryd7 SPRY domain containing 7 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:61,769,300...61,794,335
Ensembl chr14:61,769,442...61,794,335
JBrowse link
G Sucla2 succinate-Coenzyme A ligase, ADP-forming, beta subunit ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:73,790,226...73,833,584
Ensembl chr14:73,762,759...73,833,582
JBrowse link
G Sugt1 SGT1, suppressor of G2 allele of SKP1 (S. cerevisiae) ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:79,825,100...79,868,237
Ensembl chr14:79,825,131...79,872,636
JBrowse link
G Tbc1d4 TBC1 domain family, member 4 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:101,679,800...101,846,717
Ensembl chr14:101,679,796...101,846,627
JBrowse link
G Tdrd3 tudor domain containing 3 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:87,647,598...87,782,944
Ensembl chr14:87,654,075...87,782,940
JBrowse link
G Thsd1 thrombospondin, type I, domain 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr 8:22,711,623...22,752,973
Ensembl chr 8:22,717,329...22,751,350
JBrowse link
G Trim13 tripartite motif-containing 13 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:61,835,675...61,847,736
Ensembl chr14:61,835,696...61,843,395
JBrowse link
G Uchl3 ubiquitin carboxyl-terminal esterase L3 (ubiquitin thiolesterase) ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:101,891,387...101,933,561
Ensembl chr14:101,891,403...101,933,561
JBrowse link
G Vps36 vacuolar protein sorting 36 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr 8:22,682,849...22,710,969
Ensembl chr 8:22,682,825...22,710,859
JBrowse link
G Wdfy2 WD repeat and FYVE domain containing 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:63,075,110...63,198,958
Ensembl chr14:63,075,127...63,198,958
JBrowse link
chronic recurrent multifocal osteomyelitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acyp2 acylphosphatase 2, muscle type ISO ClinVar Annotator: match by term: Chronic osteomyelitis ClinVar NCBI chr11:30,455,991...30,599,778
Ensembl chr11:30,455,991...30,599,587
JBrowse link
G Il1r1 interleukin 1 receptor, type I ISO ClinVar Annotator: match by term: Chronic multifocal osteomyelitis
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
NCBI chr 1:40,261,651...40,355,361
Ensembl chr 1:40,264,240...40,356,417
JBrowse link
G LOC110806267 Tert 5' regulatory region ISO ClinVar Annotator: match by term: Chronic osteomyelitis ClinVar PMID:16890917 NCBI chr13:73,770,663...73,775,510 JBrowse link
G Mlkl mixed lineage kinase domain-like ISO ClinVar Annotator: match by term: Chronic multifocal osteomyelitis ClinVar NCBI chr 8:112,037,879...112,065,081
Ensembl chr 8:112,038,429...112,064,809
JBrowse link
G Mynn myoneurin ISO ClinVar Annotator: match by term: Chronic osteomyelitis ClinVar NCBI chr 3:30,656,212...30,674,022
Ensembl chr 3:30,656,214...30,674,022
JBrowse link
G Pstpip2 proline-serine-threonine phosphatase-interacting protein 2 IAGP OMIM:259680 MouseDO NCBI chr18:77,882,250...77,971,462
Ensembl chr18:77,877,614...77,970,579
JBrowse link
G Tert telomerase reverse transcriptase ISO ClinVar Annotator: match by term: Chronic osteomyelitis ClinVar PMID:16890917 PMID:28492532 NCBI chr13:73,775,030...73,797,962
Ensembl chr13:73,775,030...73,797,962
JBrowse link
G Zbtb46 zinc finger and BTB domain containing 46 ISO ClinVar Annotator: match by term: Chronic osteomyelitis ClinVar NCBI chr 2:181,012,105...181,134,776
Ensembl chr 2:181,029,555...181,101,219
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 4:139,464,357...139,560,841
Ensembl chr 4:139,464,373...139,560,839
JBrowse link
desmoplastic/nodular medulloblastoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arid2 AT-rich interaction domain 2 ISO ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma ClinVar PMID:26580448 NCBI chr15:96,185,403...96,303,344
Ensembl chr15:96,185,399...96,302,873
JBrowse link
G Ctcf CCCTC-binding factor ISO ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma ClinVar NCBI chr 8:106,351,135...106,409,554
Ensembl chr 8:106,363,200...106,409,554
JBrowse link
G Sufu SUFU negative regulator of hedgehog signaling ISO ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma ClinVar PMID:12068298 NCBI chr19:46,385,335...46,477,243
Ensembl chr19:46,385,335...46,477,243
JBrowse link
diffuse idiopathic skeletal hyperostosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc29a1 solute carrier family 29 (nucleoside transporters), member 1 IAGP OMIM:106400 MouseDO NCBI chr17:45,896,126...45,910,544
Ensembl chr17:45,896,126...45,910,532
JBrowse link
diffuse intrinsic pontine glioma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acvr1 activin A receptor, type 1 ISO ClinVar Annotator: match by term: Diffuse intrinsic pontine glioma ClinVar PMID:24705250 PMID:24705254 PMID:26619011 PMID:31779674 NCBI chr 2:58,336,450...58,456,840
Ensembl chr 2:58,278,656...58,457,169
JBrowse link
G Brip1 BRCA1 interacting protein C-terminal helicase 1 ISO ClinVar Annotator: match by term: Diffuse intrinsic pontine glioma ClinVar PMID:16116424 PMID:16116426 PMID:16973432 PMID:18510924 PMID:19099189 More... NCBI chr11:85,948,957...86,092,041
Ensembl chr11:85,948,964...86,092,019
JBrowse link
G Nf1 neurofibromin 1 ISO ClinVar Annotator: match by term: Diffuse intrinsic pontine glioma ClinVar PMID:25741868 PMID:28492532 NCBI chr11:79,223,541...79,472,435
Ensembl chr11:79,230,519...79,472,438
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 anaplastic lymphoma kinase ISO ClinVar Annotator: match by term: Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype ClinVar PMID:25741868 PMID:28492532 NCBI chr17:72,174,206...72,911,719
Ensembl chr17:72,175,967...72,911,622
JBrowse link
G Brca2 breast cancer 2, early onset 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 chr 5:150,445,759...150,493,612
Ensembl chr 5:150,446,095...150,493,794
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 chr10:126,899,404...126,903,157
Ensembl chr10:126,899,403...126,903,789
JBrowse link
G Fanca Fanconi anemia, complementation group A ISO ClinVar Annotator: match by term: Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype ClinVar PMID:25741868 NCBI chr 8:123,993,033...124,045,390
Ensembl chr 8:123,995,039...124,045,315
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 chr 5:33,879,068...33,894,412
Ensembl chr 5:33,879,018...33,894,412
JBrowse link
G Idh1 isocitrate dehydrogenase 1 (NADP+), soluble ISO ClinVar Annotator: match by term: Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype ClinVar PMID:25741868 NCBI chr 1:65,197,775...65,225,638
Ensembl chr 1:65,197,775...65,225,659
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 chr 1:134,487,916...134,560,621
Ensembl chr 1:134,487,909...134,563,023
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 chr11:79,223,541...79,472,435
Ensembl chr11:79,230,519...79,472,438
JBrowse link
G Pms2 PMS1 homolog2, 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 chr 5:143,846,379...143,922,538
Ensembl chr 5:143,846,782...143,870,786
Ensembl chr 5:143,846,782...143,870,786
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 6:118,128,709...118,174,705
Ensembl chr 6:118,128,706...118,174,679
JBrowse link
G Sdha succinate dehydrogenase complex, subunit A, flavoprotein (Fp) ISO ClinVar Annotator: match by term: Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype ClinVar PMID:25741868 PMID:28492532 NCBI chr13:74,470,374...74,498,359
Ensembl chr13:74,470,373...74,498,399
JBrowse link
G Trp53 transformation related protein 53 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 chr11:69,471,174...69,482,699
Ensembl chr11:69,471,185...69,482,699
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 chr10:126,903,156...126,906,977
Ensembl chr10:126,903,149...126,906,133
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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Dyggve-Melchior-Clausen syndrome
OMIM
CTD
ClinVar
PMID:12161821 PMID:12491225 PMID:12554689 PMID:16097008 PMID:16199547 More... NCBI chr18:75,151,772...75,420,037
Ensembl chr18:75,151,852...75,420,035
JBrowse link
dysembryoplastic neuroepithelial tumor term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Braf Braf transforming gene ISO DNA:mutation:cds:p.V600E(human) RGD PMID:25346165 RGD:11567238 NCBI chr 6:39,580,171...39,702,592
Ensembl chr 6:39,580,171...39,702,397
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 6:55,313,284...55,325,540
Ensembl chr 6:55,313,417...55,325,540
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 6:55,067,033...55,110,001
Ensembl chr 6:55,067,034...55,110,001
JBrowse link
G Fkbp14 FK506 binding protein 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 6:54,554,590...54,574,329
Ensembl chr 6:54,554,589...54,574,293
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 6:55,014,986...55,056,489
Ensembl chr 6:55,014,992...55,056,485
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 6:54,962,080...54,969,947
Ensembl chr 6:54,959,565...54,969,935
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 6:55,353,204...55,365,515
Ensembl chr 6:55,353,280...55,365,515
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 6:55,147,612...55,151,975
Ensembl chr 6:55,147,611...55,152,028
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 6:55,180,337...55,297,208
Ensembl chr 6:55,180,368...55,297,207
JBrowse link
G Mturn maturin, neural progenitor differentiation regulator homolog (Xenopus) ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss ClinVar PMID:28492532 NCBI chr 6:54,658,609...54,680,840
Ensembl chr 6:54,658,609...54,680,836
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 6:54,900,927...54,949,655
Ensembl chr 6:54,900,934...54,949,597
JBrowse link
G Plekha8 pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 8 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss ClinVar PMID:28492532 NCBI chr 6:54,571,883...54,622,808
Ensembl chr 6:54,572,096...54,622,824
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 6:54,793,901...54,867,209
Ensembl chr 6:54,793,901...54,870,485
JBrowse link
Ependymomas term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bcl7c B cell CLL/lymphoma 7C ISO CTD Direct Evidence: marker/mechanism CTD PMID:26075792 NCBI chr 7:127,260,626...127,307,938
Ensembl chr 7:127,260,628...127,308,105
JBrowse link
G Ephb2 Eph receptor B2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26075792 NCBI chr 4:136,374,850...136,563,637
Ensembl chr 4:136,374,850...136,563,299
JBrowse link
G Gdnf glial cell line derived neurotrophic factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:19138852 NCBI chr15:7,839,529...7,867,061
Ensembl chr15:7,840,327...7,867,056
JBrowse link
G Igf2 insulin-like growth factor 2 ISO mRNA:increased expression:cerebellum RGD PMID:18478565 RGD:5509961 NCBI chr 7:142,204,505...142,220,566
Ensembl chr 7:142,204,503...142,220,553
JBrowse link
G Rab3a RAB3A, member RAS oncogene family ISO CTD Direct Evidence: marker/mechanism CTD PMID:26075792 NCBI chr 8:71,207,258...71,211,276
Ensembl chr 8:71,207,328...71,211,323
JBrowse link
G Rtbdn retbindin ISO CTD Direct Evidence: marker/mechanism CTD PMID:26075792 NCBI chr 8:85,672,880...85,683,235
Ensembl chr 8:85,673,620...85,683,232
JBrowse link
G Shc3 src homology 2 domain-containing transforming protein C3 ISO DNA:amplification:brain: RGD PMID:19748727 RGD:13782069 NCBI chr13:51,577,422...51,724,909
Ensembl chr13:51,585,077...51,723,523
JBrowse link
G Zfp668 zinc finger protein 668 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26075792 NCBI chr 7:127,460,197...127,476,008
Ensembl chr 7:127,462,219...127,476,000
JBrowse link
Familial Horizontal Gaze Palsy with Progressive Scoliosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dcc deleted in colorectal carcinoma ISO CTD Direct Evidence: marker/mechanism CTD PMID:28250456 NCBI chr18:71,386,703...72,484,299
Ensembl chr18:71,386,705...72,484,140
JBrowse link
G Robo3 roundabout guidance receptor 3 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 9:37,327,341...37,344,730
Ensembl chr 9:37,326,965...37,344,542
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 9:37,327,341...37,344,730
Ensembl chr 9:37,326,965...37,344,542
JBrowse link
Familial Horizontal Gaze Palsy with Progressive Scoliosis, 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dcc deleted in colorectal carcinoma ISO ClinVar Annotator: match by term: Gaze palsy, familial horizontal, with progressive scoliosis, 2 OMIM
ClinVar
PMID:25741868 PMID:28250456 PMID:28492532 NCBI chr18:71,386,703...72,484,299
Ensembl chr18:71,386,705...72,484,140
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 chr14:73,430,298...73,563,446
Ensembl chr14:73,421,113...73,563,262
JBrowse link
fibrillary astrocytoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kras Kirsten rat sarcoma viral oncogene homolog ISO mRNA:decreased expression:brain RGD PMID:19179066 RGD:13702872 NCBI chr 6:145,162,425...145,197,631
Ensembl chr 6:145,162,425...145,195,965
JBrowse link
glioblastoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 4930550C14Rik RIKEN cDNA 4930550C14 gene ISO ClinVar Annotator: match by term: Glioblastoma ClinVar PMID:9054948 PMID:19781682 PMID:23322442 PMID:23807571 PMID:25525159 More... NCBI chr 9:53,313,814...53,345,726
Ensembl chr 9:53,313,625...53,345,702
JBrowse link
G Actr3 ARP3 actin-related protein 3 ISO mRNA:increased expression:brain (human) RGD PMID:25682201 RGD:11570557 NCBI chr 1:125,320,642...125,363,464
Ensembl chr 1:125,320,642...125,363,464
JBrowse link
G Adgrb1 adhesion G protein-coupled receptor B1 treatment ISO mRNA:decreased expression:brain: RGD PMID:16244591 PMID:12507886 RGD:13831352, RGD:13831355 NCBI chr15:74,388,045...74,461,314
Ensembl chr15:74,388,044...74,461,314
JBrowse link
G Adgrl4 adhesion G protein-coupled receptor L4 treatment
severity
IMP
ISO
RGD PMID:27416955 PMID:23096411 PMID:23096411 RGD:13838664, RGD:13838665, RGD:13838665 NCBI chr 3:151,143,519...151,250,718
Ensembl chr 3:151,143,524...151,250,723
JBrowse link
G Akt1 thymoma viral proto-oncogene 1 IMP RGD PMID:10802656 RGD:734543 NCBI chr12:112,620,260...112,641,266
Ensembl chr12:112,620,255...112,641,318
JBrowse link
G Akt3 thymoma viral proto-oncogene 3 disease_progression ISO RGD PMID:27422127 RGD:13674164 NCBI chr 1:176,847,642...177,091,688
Ensembl chr 1:176,847,639...177,085,769
JBrowse link
G Apc APC, WNT signaling pathway regulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:7661930 NCBI chr18:34,353,350...34,455,243
Ensembl chr18:34,353,977...34,455,605
JBrowse link
G Arrb2 arrestin, beta 2 ameliorates ISO RGD PMID:34007068 RGD:401938608 NCBI chr11:70,323,051...70,331,654
Ensembl chr11:70,323,461...70,331,654
JBrowse link
G Aspm abnormal spindle microtubule assembly ISO mRNA:increased expression:brain: RGD PMID:18636190 RGD:13439742 NCBI chr 1:139,381,450...139,421,826
Ensembl chr 1:139,382,510...139,421,829
JBrowse link
G Atm ataxia telangiectasia mutated ISO ClinVar Annotator: match by term: Glioblastoma ClinVar PMID:9054948 PMID:19781682 PMID:23322442 PMID:23807571 PMID:25525159 More... NCBI chr 9:53,348,422...53,448,125
Ensembl chr 9:53,350,449...53,448,040
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:104,841,221...104,972,978
Ensembl chr  X:104,841,221...104,973,009
JBrowse link
G Bag3 BCL2-associated athanogene 3 treatment ISO RGD PMID:21561597 RGD:5687132 NCBI chr 7:128,125,307...128,148,705
Ensembl chr 7:128,125,340...128,148,705
JBrowse link
G Bche butyrylcholinesterase ISO CTD Direct Evidence: marker/mechanism CTD PMID:2317787 NCBI chr 3:73,543,138...73,615,767
Ensembl chr 3:73,543,141...73,615,748
JBrowse link
G Becn1 beclin 1, autophagy related disease_progression ISO RGD PMID:20863706 RGD:6483102 NCBI chr11:101,179,084...101,193,112
Ensembl chr11:101,176,778...101,193,112
JBrowse link
G Bhlhe40 basic helix-loop-helix family, member e40 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23582323 NCBI chr 6:108,637,590...108,643,886
Ensembl chr 6:108,637,590...108,643,886
JBrowse link
G Birc3 baculoviral IAP repeat-containing 3 exacerbates ISO mRNA:increased expression:brain (human) RGD PMID:31964418 RGD:153344516 NCBI chr 9:7,848,698...7,873,199
Ensembl chr 9:7,848,700...7,873,187
JBrowse link
G Bmi1 Bmi1 polycomb ring finger oncogene ISO CTD Direct Evidence: marker/mechanism CTD PMID:19823589 NCBI chr 2:18,681,953...18,691,440
Ensembl chr 2:18,681,829...18,691,440
JBrowse link
G Braf Braf transforming gene ISO ClinVar Annotator: match by term: Glioblastoma ClinVar PMID:12068308 PMID:12198537 PMID:12447372 PMID:12460918 PMID:12460919 More... NCBI chr 6:39,580,171...39,702,592
Ensembl chr 6:39,580,171...39,702,397
JBrowse link
G Brd2 bromodomain containing 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27388964 NCBI chr17:34,330,993...34,341,581
Ensembl chr17:34,330,997...34,341,608
JBrowse link
G Brd4 bromodomain containing 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26455392 PMID:27388964 NCBI chr17:32,415,246...32,503,717
Ensembl chr17:32,415,248...32,503,696
JBrowse link
G Brd7 bromodomain containing 7 ISO protein:increased expression:brain: RGD PMID:24404152 RGD:9586441 NCBI chr 8:89,056,522...89,089,249
Ensembl chr 8:89,057,667...89,088,822
JBrowse link
G Cbx6 chromobox 6 disease_progression ISO mRNA,protein:decreased expression:astrocyte: RGD PMID:24260522 RGD:9587354 NCBI chr15:79,708,099...79,718,534
Ensembl chr15:79,708,097...79,718,889
JBrowse link
G Cbx7 chromobox 7 disease_progression ISO mRNA,protein:decreased expression:astrocyte: RGD PMID:24260522 RGD:9587354 NCBI chr15:79,800,005...79,855,344
Ensembl chr15:79,800,008...79,855,320
JBrowse link
G Cbx8 chromobox 8 ISO mRNA:increased expression:astrocyte: RGD PMID:24260522 RGD:9587354 NCBI chr11:118,929,262...118,931,739
Ensembl chr11:118,927,131...118,931,795
JBrowse link
G Ccnh cyclin H ISO CTD Direct Evidence: marker/mechanism CTD PMID:30705370 NCBI chr13:85,337,504...85,361,850
Ensembl chr13:85,337,527...85,371,588
JBrowse link
G Cd9 CD9 antigen ISO CTD Direct Evidence: marker/mechanism CTD PMID:26573230 NCBI chr 6:125,437,229...125,471,723
Ensembl chr 6:125,437,229...125,471,754
JBrowse link
G Cdk4 cyclin dependent kinase 4 ISO DNA:amplication RGD PMID:23796897 RGD:13702089 NCBI chr10:126,899,404...126,903,157
Ensembl chr10:126,899,403...126,903,789
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 5:3,391,004...3,581,008
Ensembl chr 5:3,391,485...3,581,008
JBrowse link
G Cdkn2a cyclin dependent kinase inhibitor 2A treatment ISO RGD PMID:10720483 RGD:8552659 NCBI chr 4:89,192,710...89,212,856
Ensembl chr 4:89,192,708...89,212,890
JBrowse link
G Chaf1b chromatin assembly factor 1, subunit B ISO protein:increased expression:brain: RGD PMID:24039914 RGD:9587472 NCBI chr16:93,680,801...93,703,003
Ensembl chr16:93,680,789...93,703,003
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 chr 1:134,109,894...134,117,769
Ensembl chr 1:134,109,914...134,117,919
JBrowse link
G Cpeb1 cytoplasmic polyadenylation element binding protein 1 disease_progression ISO RGD PMID:23360795 RGD:9685152 NCBI chr 7:80,996,774...81,105,207
Ensembl chr 7:80,996,774...81,105,213
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 chr16:3,899,198...4,031,864
Ensembl chr16:3,899,192...4,031,861
JBrowse link
G Csta2 cystatin A family member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22287159 NCBI chr16:36,041,932...36,077,813
Ensembl chr16:36,041,838...36,077,810
JBrowse link
G Cstb cystatin B ISO CTD Direct Evidence: marker/mechanism CTD PMID:22287159 NCBI chr10:78,261,504...78,263,456
Ensembl chr10:78,261,503...78,263,456
JBrowse link
G Ctnnd2 catenin delta 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23917401 NCBI chr15:30,172,680...31,029,490
Ensembl chr15:30,172,739...31,029,487
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 chr14:63,359,911...63,383,372
Ensembl chr14:63,359,911...63,383,372
JBrowse link
G Ctsh cathepsin H ISO protein:increased expression:brain RGD PMID:8640738 RGD:1549417 NCBI chr 9:89,936,320...89,958,148
Ensembl chr 9:89,936,205...89,958,142
JBrowse link
G Ctsk cathepsin K ISO CTD Direct Evidence: marker/mechanism CTD PMID:25356585 NCBI chr 3:95,406,521...95,416,698
Ensembl chr 3:95,406,567...95,416,673
JBrowse link
G Cxcl15 C-X-C motif chemokine ligand 15 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16356833 NCBI chr 5:90,942,393...90,950,926
Ensembl chr 5:90,942,393...90,950,926
JBrowse link
G Deup1 deuterosome assembly protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30705370 NCBI chr 9:15,471,160...15,539,646
Ensembl chr 9:15,471,160...15,539,229
JBrowse link
G Dmbt1 deleted in malignant brain tumors 1 ISO DNA:deletion RGD PMID:9288095 RGD:1599778 NCBI chr 7:130,633,787...130,723,357
Ensembl chr 7:130,633,776...130,723,357
JBrowse link
G Dnmt3a DNA methyltransferase 3A ISO ClinVar Annotator: match by term: Glioblastoma ClinVar NCBI chr12:3,851,559...3,964,442
Ensembl chr12:3,856,007...3,964,443
JBrowse link
G Dusp6 dual specificity phosphatase 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21499306 NCBI chr10:99,098,676...99,103,351
Ensembl chr10:99,099,093...99,103,351
JBrowse link
G E2f1 E2F transcription factor 1 disease_progression ISO RGD PMID:16264179 RGD:13702471 NCBI chr 2:154,401,320...154,411,812
Ensembl chr 2:154,401,327...154,411,812
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 3:129,471,223...129,548,971
Ensembl chr 3:129,471,214...129,548,965
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 chr11:16,700,153...16,868,158
Ensembl chr11:16,702,203...16,868,158
JBrowse link
G Enpp1 ectonucleotide pyrophosphatase/phosphodiesterase 1 severity ISO protein:increased expression:brain (human) RGD PMID:21195542 RGD:13204719 NCBI chr10:24,513,812...24,588,057
Ensembl chr10:24,513,812...24,588,057
JBrowse link
G Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit treatment ISO RGD PMID:25595591 RGD:14928319 NCBI chr 6:47,507,208...47,613,843
Ensembl chr 6:47,507,073...47,572,275
JBrowse link
G Fabp7 fatty acid binding protein 7, brain severity ISO mRNA, protein:increased expression:brain (human) RGD PMID:15827123 RGD:1578468 NCBI chr10:57,661,019...57,664,546
Ensembl chr10:57,660,977...57,664,546
JBrowse link
G Fam83d family with sequence similarity 83, member D ISO CTD Direct Evidence: marker/mechanism CTD PMID:35150198 NCBI chr 2:158,610,011...158,628,557
Ensembl chr 2:158,610,013...158,628,557
JBrowse link
G Fat1 FAT atypical cadherin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23354438 NCBI chr 8:45,386,137...45,505,294
Ensembl chr 8:45,388,484...45,505,294
JBrowse link
G Fbxw7 F-box and WD-40 domain protein 7 ISO ClinVar Annotator: match by term: Glioblastoma ClinVar PMID:26619011 NCBI chr 3:84,721,901...84,886,505
Ensembl chr 3:84,722,575...84,886,505
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 chr 8:26,008,808...26,067,819
Ensembl chr 8:26,003,670...26,065,734
JBrowse link
G Flt3l FMS-like tyrosine kinase 3 ligand treatment ISO RGD PMID:18079358 RGD:11049502 NCBI chr 7:44,780,607...44,785,914
Ensembl chr 7:44,779,212...44,785,856
JBrowse link
G Fn1 fibronectin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17099729 NCBI chr 1:71,624,632...71,692,439
Ensembl chr 1:71,624,679...71,692,359
JBrowse link
G Fosl2 fos-like antigen 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23582323 NCBI chr 5:32,292,599...32,315,184
Ensembl chr 5:32,293,145...32,315,186
JBrowse link
G Fxn frataxin ISO RGD PMID:21863062 RGD:401793715 NCBI chr19:24,236,909...24,257,954
Ensembl chr19:24,238,817...24,257,969
JBrowse link
G Gdnf glial cell line derived neurotrophic factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:19138852 NCBI chr15:7,839,529...7,867,061
Ensembl chr15:7,840,327...7,867,056
JBrowse link
G Grik2 glutamate receptor, ionotropic, kainate 2 (beta 2) ISO CTD Direct Evidence: marker/mechanism CTD PMID:30705370 NCBI chr10:48,969,776...49,666,523
Ensembl chr10:48,970,929...49,664,862
JBrowse link
G Gstt1 glutathione S-transferase, theta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16874663 NCBI chr10:75,619,647...75,634,418
Ensembl chr10:75,619,647...75,634,418
JBrowse link
G H2ax H2A.X variant histone ISO CTD Direct Evidence: marker/mechanism CTD PMID:26651356 NCBI chr 9:44,246,012...44,247,374
Ensembl chr 9:44,245,991...44,247,374
JBrowse link
G H3f3a H3.3 histone A ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Glioblastoma
CTD
ClinVar
PMID:22286216 PMID:23817572 PMID:26619011 PMID:26822237 NCBI chr 1:180,630,125...180,641,127
Ensembl chr 1:180,628,397...180,641,508
JBrowse link
G Heatr1 HEAT repeat containing 1 ISO mRNA, protein:increased expression:brain RGD PMID:25126583 RGD:10761721 NCBI chr13:12,410,256...12,453,774
Ensembl chr13:12,409,908...12,455,170
JBrowse link
G Hes1 hes family bHLH transcription factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21127729 NCBI chr16:29,883,259...29,886,614
Ensembl chr16:29,883,202...29,886,614
JBrowse link
G Hey1 hairy/enhancer-of-split related with YRPW motif 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21127729 NCBI chr 3:8,728,419...8,732,098
Ensembl chr 3:8,728,419...8,732,316
JBrowse link
G Hif1a hypoxia inducible factor 1, alpha subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:12811834 NCBI chr12:73,948,186...73,994,304
Ensembl chr12:73,948,149...73,994,304
JBrowse link
G Hoxd10 homeobox D10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:34737577 NCBI chr 2:74,514,617...74,525,450
Ensembl chr 2:74,522,268...74,525,449
JBrowse link
G Hras Harvey rat sarcoma virus oncogene severity IMP
ISO
DNA:missense mutation:cds:p.G61L(human)
ClinVar Annotator: match by term: Glioblastoma
ClinVar
RGD
PMID:11150980 PMID:16155195 PMID:16170316 PMID:16329078 PMID:16372351 More... RGD:13702475, RGD:13702872 NCBI chr 7:140,770,839...140,773,938
Ensembl chr 7:140,769,018...140,773,918
JBrowse link
G Idh1 isocitrate dehydrogenase 1 (NADP+), soluble disease_progression
onset
ISO DNA:mutation:cds:p.R132(human)
ClinVar Annotator: match by term: Glioblastoma | ClinVar Annotator: match by term: Glioblastoma, 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 1:65,197,775...65,225,638
Ensembl chr 1:65,197,775...65,225,659
JBrowse link
G Il16 interleukin 16 ISO protein:increased expression:brain RGD PMID:17221335 RGD:5024941 NCBI chr 7:83,292,027...83,395,479
Ensembl chr 7:83,292,033...83,394,934
JBrowse link
G Il1b interleukin 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:16356833 NCBI chr 2:129,206,490...129,213,059
Ensembl chr 2:129,206,490...129,213,059
JBrowse link
G Il2 interleukin 2 ISO CTD Direct Evidence: therapeutic CTD PMID:7719933 NCBI chr 3:37,174,862...37,180,103
Ensembl chr 3:37,174,672...37,180,108
JBrowse link
G Jag1 jagged 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21127729 NCBI chr 2:136,923,371...136,958,440
Ensembl chr 2:136,923,376...136,958,564
JBrowse link
G Jag2 jagged 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21127729 NCBI chr12:112,871,439...112,893,437
Ensembl chr12:112,871,439...112,893,396
JBrowse link
G Kcnc2 potassium voltage gated channel, Shaw-related subfamily, member 2 ISO mRNA:splice variant (human) RGD PMID:18474104 RGD:9686067 NCBI chr10:112,105,803...112,302,209
Ensembl chr10:112,107,026...112,302,929
JBrowse link
G Kdr kinase insert domain protein receptor treatment ISO RGD PMID:26325365 RGD:11529678 NCBI chr 5:76,093,487...76,139,880
Ensembl chr 5:76,093,487...76,139,118
JBrowse link
G Kras Kirsten rat sarcoma viral oncogene homolog treatment IMP
ISO
mRNA:decreased expression:brain RGD PMID:16166301 PMID:19179066 RGD:13702861, RGD:13702872 NCBI chr 6:145,162,425...145,197,631
Ensembl chr 6:145,162,425...145,195,965
JBrowse link
G L1cam L1 cell adhesion molecule ISO mRNA:decreased expression:brain, temporal lobe (human) RGD PMID:20419098 RGD:6483067 NCBI chr  X:72,897,384...72,924,843
Ensembl chr  X:72,897,384...72,939,711
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 7:140,774,024...140,789,968
Ensembl chr 7:140,774,070...140,789,968
JBrowse link
G Lrrc59 leucine rich repeat containing 59 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30705370 NCBI chr11:94,520,603...94,536,049
Ensembl chr11:94,520,593...94,536,042
JBrowse link
G Ltbp4 latent transforming growth factor beta binding protein 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27270107 NCBI chr 7:27,004,566...27,039,142
Ensembl chr 7:27,004,561...27,037,117
JBrowse link
G Lztr1 leucine-zipper-like transcriptional regulator, 1 ISO CTD Direct Evidence: marker/mechanism
DNA:mutations:multiple (human)
CTD
RGD
PMID:23917401 PMID:23917401 RGD:151708722 NCBI chr16:17,326,124...17,344,197
Ensembl chr16:17,326,552...17,344,197
JBrowse link
G Macir macrophage immunometabolism regulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:30705370 NCBI chr 1:97,571,627...97,589,743
Ensembl chr 1:97,534,043...97,589,799
JBrowse link
G Map1lc3a microtubule-associated protein 1 light chain 3 alpha treatment ISO RGD PMID:24905460 RGD:11561946 NCBI chr 2:155,118,284...155,119,993
Ensembl chr 2:155,118,217...155,119,993
JBrowse link
G Map2k2 mitogen-activated protein kinase kinase 2 treatment ISO RGD PMID:26189368 RGD:13702862 NCBI chr10:80,941,749...80,960,531
Ensembl chr10:80,941,749...80,969,809
JBrowse link
G Map2k3 mitogen-activated protein kinase kinase 3 disease_progression ISO protein:increased expression, increased phosphorylation:brain RGD PMID:17406030 RGD:1641940 NCBI chr11:60,822,880...60,843,637
Ensembl chr11:60,822,859...60,843,637
JBrowse link
G Mdm2 transformed mouse 3T3 cell double minute 2 ISO DNA:amplication RGD PMID:23796897 RGD:13702089 NCBI chr10:117,524,780...117,546,663
Ensembl chr10:117,524,780...117,546,663
JBrowse link
G Mdm4 transformed mouse 3T3 cell double minute 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20472715 NCBI chr 1:132,913,843...132,958,325
Ensembl chr 1:132,887,222...132,958,299
JBrowse link
G Med12 mediator complex subunit 12 ISO ClinVar Annotator: match by term: Glioblastoma ClinVar PMID:26822237 NCBI chr  X:100,317,697...100,342,540
Ensembl chr  X:100,317,636...100,341,071
JBrowse link
G Met met proto-oncogene ISO CTD Direct Evidence: marker/mechanism CTD PMID:22162573 NCBI chr 6:17,463,351...17,573,979
Ensembl chr 6:17,463,799...17,573,979
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 7:136,496,315...136,732,001
Ensembl chr 7:136,496,343...136,731,995
JBrowse link
G Mir21a microRNA 21a ameliorates ISO RGD PMID:31730913 RGD:41404645 NCBI chr11:86,474,893...86,474,984
Ensembl chr11:86,474,893...86,474,984
JBrowse link
G Mir31 microRNA 31 ISO RNA:decreased expression:brain (human) RGD PMID:22089331 RGD:152998941 NCBI chr 4:88,828,794...88,828,899
Ensembl chr 4:88,828,794...88,828,899
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 chr 8:93,553,920...93,580,049
Ensembl chr 8:93,553,919...93,580,048
JBrowse link
G Mmp7 matrix metallopeptidase 7 severity ISO protein:increased expression:brain (human) RGD PMID:7616276 RGD:7207145 NCBI chr 9:7,692,095...7,699,587
Ensembl chr 9:7,692,091...7,699,586
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 2:164,782,246...164,797,770
Ensembl chr 2:164,782,700...164,797,770
JBrowse link
G Msh2 mutS homolog 2 ISO ClinVar Annotator: match by term: Glioblastoma ClinVar PMID:25741868 NCBI chr17:87,979,960...88,031,141
Ensembl chr17:87,979,758...88,031,141
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 4:148,533,039...148,642,142
Ensembl chr 4:148,533,068...148,642,140
JBrowse link
G Myc myelocytomatosis oncogene ISO CTD Direct Evidence: marker/mechanism CTD PMID:21127729 NCBI chr15:61,857,190...61,862,210
Ensembl chr15:61,857,240...61,862,223
JBrowse link
G Mycn v-myc avian myelocytomatosis viral related oncogene, neuroblastoma derived ISO ClinVar Annotator: match by term: Glioblastoma ClinVar PMID:26619011 NCBI chr12:12,986,094...12,991,837
Ensembl chr12:12,986,094...12,991,915
JBrowse link
G Ncor1 nuclear receptor co-repressor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17312396 NCBI chr11:62,207,132...62,348,200
Ensembl chr11:62,207,252...62,349,367
JBrowse link
G Ndrg1 N-myc downstream regulated gene 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15341671 NCBI chr15:66,801,167...66,841,490
Ensembl chr15:66,801,167...66,841,489
JBrowse link
G Ndrg4 N-myc downstream regulated gene 4 ISO mRNA, protein:decreased expression:brain RGD PMID:22489821 RGD:7247726 NCBI chr 8:96,403,602...96,441,584
Ensembl chr 8:96,403,608...96,441,747
JBrowse link
G Nf1 neurofibromin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25119042 NCBI chr11:79,223,541...79,472,435
Ensembl chr11:79,230,519...79,472,438
JBrowse link
G Nfkbia nuclear factor of kappa light polypeptide gene enhancer in B cells inhibitor, alpha treatment ISO human cell line in a mouse model RGD PMID:15692608 RGD:127285387 NCBI chr12:55,536,194...55,539,432
Ensembl chr12:55,536,195...55,539,432
JBrowse link
G Notch1 notch 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21127729 NCBI chr 2:26,347,914...26,393,834
Ensembl chr 2:26,347,915...26,406,675
JBrowse link
G Notch2 notch 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21127729 NCBI chr 3:97,920,854...98,057,683
Ensembl chr 3:97,920,843...98,057,677
JBrowse link
G Notch3 notch 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21127729 NCBI chr17:32,339,794...32,385,869
Ensembl chr17:32,339,794...32,385,826
JBrowse link
G Nras neuroblastoma ras oncogene 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 3:102,965,643...102,975,230
Ensembl chr 3:102,965,601...102,975,230
JBrowse link
G Pdgfb platelet derived growth factor, B polypeptide ISO RGD PMID:21210235 RGD:6482799 NCBI chr15:79,880,066...79,899,178
Ensembl chr15:79,880,075...79,899,178
JBrowse link
G Pdgfrb platelet derived growth factor receptor, beta polypeptide treatment ISO RGD PMID:24566984 RGD:13702903 NCBI chr18:61,178,194...61,218,139
Ensembl chr18:61,178,222...61,218,133
JBrowse link
G Pdpn podoplanin ISO RGD PMID:16979138 RGD:2292241 NCBI chr 4:142,993,979...143,026,134
Ensembl chr 4:142,994,001...143,026,134
JBrowse link
G Pecam1 platelet/endothelial cell adhesion molecule 1 IDA RGD PMID:21858729 RGD:6771207 NCBI chr11:106,545,039...106,606,107
Ensembl chr11:106,545,043...106,641,454
JBrowse link
G Pgf placental growth factor disease_progression ISO RGD PMID:20458050 RGD:6483585 NCBI chr12:85,213,413...85,224,087
Ensembl chr12:85,213,409...85,224,564
JBrowse link
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha ISO ClinVar Annotator: match by term: Glioblastoma ClinVar PMID:15016963 PMID:15254419 PMID:15520168 PMID:15608678 PMID:15647370 More... NCBI chr 3:32,451,203...32,520,256
Ensembl chr 3:32,451,820...32,522,635
JBrowse link
G Pik3cb phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta disease_progression ISO RGD PMID:26956052 PMID:21188471 RGD:11343921, RGD:13782050 NCBI chr 9:98,920,455...99,022,264
Ensembl chr 9:98,918,707...99,022,674
JBrowse link
G Pik3cd phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta disease_progression ISO RGD PMID:24523440 RGD:13782051 NCBI chr 4:149,733,625...149,787,023
Ensembl chr 4:149,733,625...149,787,028
JBrowse link
G Pik3r1 phosphoinositide-3-kinase regulatory subunit 1 ISO ClinVar Annotator: match by term: Glioblastoma ClinVar PMID:19962457 PMID:25157968 PMID:26619011 NCBI chr13:101,817,269...101,904,725
Ensembl chr13:101,817,071...101,904,725
JBrowse link
G Pim1 proviral integration site 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23724780 NCBI chr17:29,709,759...29,715,085
Ensembl chr17:29,709,727...29,715,086
JBrowse link
G Pml promyelocytic leukemia ISO CTD Direct Evidence: marker/mechanism CTD PMID:23440206 NCBI chr 9:58,125,359...58,157,077
Ensembl chr 9:58,125,359...58,157,069
JBrowse link
G Pole polymerase (DNA directed), epsilon ISO ClinVar Annotator: match by term: Glioblastoma ClinVar PMID:25228659 PMID:26619011 PMID:27573199 PMID:28492532 PMID:29352080 NCBI chr 5:110,434,185...110,485,319
Ensembl chr 5:110,434,172...110,485,340
JBrowse link
G Polk polymerase (DNA directed), kappa ISO CTD Direct Evidence: marker/mechanism CTD PMID:26651356 NCBI chr13:96,617,195...96,679,087
Ensembl chr13:96,617,198...96,679,087
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 6:115,337,828...115,467,365
Ensembl chr 6:115,337,912...115,467,360
JBrowse link
G Prkn parkin RBR E3 ubiquitin protein ligase ISO CTD Direct Evidence: marker/mechanism CTD PMID:19946270 NCBI chr17:11,059,227...12,282,257
Ensembl chr17:11,059,271...12,282,248
JBrowse link
G Prom1 prominin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18679414 PMID:18829568 PMID:19718438 NCBI chr 5:44,150,963...44,260,850
Ensembl chr 5:44,150,962...44,259,374
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 chr19:32,734,977...32,803,560
Ensembl chr19:32,734,897...32,803,560
JBrowse link
G Ptgs1 prostaglandin-endoperoxide synthase 1 disease_progression ISO protein:increased expression:microglia, macrophage, RGD PMID:11121536 PMID:10229132 RGD:5688245, RGD:5688250 NCBI chr 2:36,106,758...36,142,287
Ensembl chr 2:36,120,438...36,142,284
JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 disease_progression ISO protein:increased expression:endothelial cell RGD PMID:11121536 PMID:10229132 RGD:5688245, RGD:5688250 NCBI chr 1:149,975,851...149,983,978
Ensembl chr 1:149,975,782...149,983,978
JBrowse link
G Ptk2 PTK2 protein tyrosine kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12811834 NCBI chr15:73,076,951...73,297,192
Ensembl chr15:73,076,951...73,295,129
JBrowse link
G Ptn pleiotrophin ISO protein:increased expression:brain (human) RGD PMID:14692702 RGD:151660507 NCBI chr 6:36,691,863...36,787,114
Ensembl chr 6:36,691,864...36,787,155
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 chr10:116,111,407...116,225,443
Ensembl chr10:116,111,428...116,225,440
JBrowse link
G Rb1 RB transcriptional corepressor 1 severity ISO DNA:hypermethylation:promoter: RGD PMID:11204276 RGD:13782067 NCBI chr14:73,430,298...73,563,446
Ensembl chr14:73,421,113...73,563,262
JBrowse link
G Reck reversion-inducing-cysteine-rich protein with kazal motifs ISO CTD Direct Evidence: therapeutic CTD PMID:20127710 NCBI chr 4:43,875,521...43,944,806
Ensembl chr 4:43,875,530...43,944,806
JBrowse link
G Rpl35a ribosomal protein L35A ISO mRNA:increased expression:brain (human) RGD PMID:10880769 RGD:11535077 NCBI chr16:32,876,823...32,880,559
Ensembl chr16:32,876,823...32,880,559
JBrowse link
G Rpl5 ribosomal protein L5 ISO DNA:mutations:multiple (human) RGD PMID:26892688 RGD:11535147 NCBI chr 5:108,048,388...108,056,871
Ensembl chr 5:108,048,368...108,056,871
JBrowse link
G Runx1 runt related transcription factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23582323 NCBI chr16:92,398,354...92,622,962
Ensembl chr16:92,398,354...92,623,037
JBrowse link
G Runx3 runt related transcription factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16909125 NCBI chr 4:134,847,956...134,905,301
Ensembl chr 4:134,847,963...134,905,301
JBrowse link
G Septin14 septin 14 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23917401 NCBI chr 5:129,760,455...129,782,048
Ensembl chr 5:129,760,455...129,785,576
JBrowse link
G Serping1 serine (or cysteine) peptidase inhibitor, clade G, member 1 treatment ISO RGD PMID:28880870 RGD:13525003 NCBI chr 2:84,595,704...84,605,748
Ensembl chr 2:84,595,731...84,605,788
JBrowse link
G Slc7a5 solute carrier family 7 (cationic amino acid transporter, y+ system), member 5 disease_progression ISO RGD PMID:16496379 RGD:151361115 NCBI chr 8:122,607,885...122,634,425
Ensembl chr 8:122,607,889...122,634,433
JBrowse link
G Slx4 SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae) ISO ClinVar Annotator: match by term: Glioblastoma multiforme ClinVar PMID:25741868 NCBI chr16:3,796,969...3,821,708
Ensembl chr16:3,796,969...3,821,634
JBrowse link
G Srrt serrate RNA effector molecule homolog (Arabidopsis) ISO CTD Direct Evidence: marker/mechanism CTD PMID:30542699 NCBI chr 5:137,293,966...137,306,564
Ensembl chr 5:137,293,973...137,305,928
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 chr11:100,777,632...100,830,447
Ensembl chr11:100,775,924...100,830,366
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 chr11:100,750,177...100,775,995
Ensembl chr11:100,750,177...100,775,995
JBrowse link
G Suz12 SUZ12 polycomb repressive complex 2 subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:25119042 NCBI chr11:79,883,932...79,924,949
Ensembl chr11:79,883,932...79,924,949
JBrowse link
G Tes testin LIM domain protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:16909125 NCBI chr 6:17,065,148...17,105,824
Ensembl chr 6:17,065,148...17,105,827
JBrowse link
G Tgm2 transglutaminase 2, C polypeptide ISO CTD Direct Evidence: marker/mechanism|therapeutic CTD PMID:16170020 PMID:17099729 NCBI chr 2:157,958,325...157,988,312
Ensembl chr 2:157,958,322...157,988,356
JBrowse link
G Tmem135 transmembrane protein 135 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30705370 NCBI chr 7:88,789,230...89,053,911
Ensembl chr 7:88,788,922...89,053,430
JBrowse link
G Tnc tenascin C ISO RGD PMID:16928692 RGD:4889612 NCBI chr 4:63,878,022...63,965,554
Ensembl chr 4:63,878,022...63,965,252
JBrowse link
G Tnfsf10 tumor necrosis factor (ligand) superfamily, member 10 ISO CTD Direct Evidence: therapeutic CTD PMID:21877938 NCBI chr 3:27,371,226...27,393,814
Ensembl chr 3:27,371,177...27,396,576
JBrowse link
G Trmt11 tRNA methyltransferase 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30705370 NCBI chr10:30,410,218...30,477,598
Ensembl chr10:30,410,221...30,476,745
JBrowse link
G Trp53 transformation related protein 53 IAGP
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 chr11:69,471,174...69,482,699
Ensembl chr11:69,471,185...69,482,699
JBrowse link
G Trp53bp1 transformation related protein 53 binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30705370 NCBI chr 2:121,025,316...121,126,830
Ensembl chr 2:121,023,762...121,101,888
JBrowse link
G Vegfa vascular endothelial growth factor A ISO CTD Direct Evidence: marker/mechanism CTD PMID:16356833 NCBI chr17:46,327,919...46,343,303
Ensembl chr17:46,327,919...46,343,295
JBrowse link
G Wt1 WT1 transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:20820871 NCBI chr 2:104,956,874...105,003,959
Ensembl chr 2:104,956,874...105,003,961
JBrowse link
G Xrcc1 X-ray repair complementing defective repair in Chinese hamster cells 1 susceptibility ISO DNA:SNP:exon 10: p.R399Q (human) RGD PMID:18330515 RGD:401827274 NCBI chr 7:24,246,124...24,272,863
Ensembl chr 7:24,245,714...24,272,865
JBrowse link
G Zbtb7a zinc finger and BTB domain containing 7a ISO CTD Direct Evidence: marker/mechanism CTD PMID:25875864 NCBI chr10:80,971,113...80,988,056
Ensembl chr10:80,971,054...80,988,829
JBrowse link
glioblastoma proneural subtype term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rb1 RB transcriptional corepressor 1 ISO RNA:decreased expression:brain: RGD PMID:22157621 RGD:13782062 NCBI chr14:73,430,298...73,563,446
Ensembl chr14:73,421,113...73,563,262
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 IMP mouse gene in a rat model RGD PMID:7489565 RGD:11526112 NCBI chr11:81,926,403...81,928,278
Ensembl chr11:81,926,397...81,928,279
JBrowse link
G Cyp2b10 cytochrome P450, family 2, subfamily b, polypeptide 10 ISO CTD Direct Evidence: therapeutic CTD PMID:9766669 PMID:11389073 NCBI chr 7:25,597,083...25,626,049
Ensembl chr 7:25,597,045...25,626,049
JBrowse link
G Cyp2c52-ps cytochrome P450, family 2, subfamily c, polypeptide 52, pseudogene ISO CTD Direct Evidence: therapeutic CTD PMID:9766669 NCBI chr19:38,965,106...38,992,071
Ensembl chr19:38,965,091...38,991,733
JBrowse link
G Plau plasminogen activator, urokinase severity IMP mouse gene in rat model RGD PMID:20606645 RGD:7241591 NCBI chr14:20,886,730...20,893,456
Ensembl chr14:20,886,728...20,893,453
JBrowse link
G Por cytochrome p450 oxidoreductase ISO CTD Direct Evidence: therapeutic CTD PMID:9766669 NCBI chr 5:135,698,894...135,764,180
Ensembl chr 5:135,698,887...135,764,180
JBrowse link
G Ptgs1 prostaglandin-endoperoxide synthase 1 ISO protein:increased expression:microglia, macrophage, RGD PMID:10229132 RGD:5688250 NCBI chr 2:36,106,758...36,142,287
Ensembl chr 2:36,120,438...36,142,284
JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 ISO protein:increased expression:endothelial cell RGD PMID:10229132 RGD:5688250 NCBI chr 1:149,975,851...149,983,978
Ensembl chr 1:149,975,782...149,983,978
JBrowse link
G Vegfa vascular endothelial growth factor A ISO CTD Direct Evidence: marker/mechanism CTD PMID:16533777 NCBI chr17:46,327,919...46,343,303
Ensembl chr17:46,327,919...46,343,295
JBrowse link
high grade ependymoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Runx1 runt related transcription factor 1 ISO ClinVar Annotator: match by term: Malignant ependymoma ClinVar PMID:23753029 PMID:25741868 PMID:26580448 PMID:28492532 PMID:28801348 More... NCBI chr16:92,398,354...92,622,962
Ensembl chr16:92,398,354...92,623,037
JBrowse link
high grade glioma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 4930550C14Rik RIKEN cDNA 4930550C14 gene ISO ClinVar Annotator: match by term: Malignant glioma ClinVar PMID:8659541 PMID:8808599 PMID:9000145 PMID:9463314 PMID:10330348 More... NCBI chr 9:53,313,814...53,345,726
Ensembl chr 9:53,313,625...53,345,702
JBrowse link
G Abcb1b ATP-binding cassette, sub-family B member 1B ISO RGD PMID:16574265 RGD:1598564 NCBI chr 5:8,848,147...8,916,314
Ensembl chr 5:8,848,147...8,916,315
JBrowse link
G Acvr1 activin A receptor, type 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Brainstem glioma
CTD
ClinVar
PMID:818090 PMID:7068725 PMID:19085907 PMID:19330033 PMID:22977237 More... NCBI chr 2:58,336,450...58,456,840
Ensembl chr 2:58,278,656...58,457,169
JBrowse link
G Adgra2 adhesion G protein-coupled receptor A2 ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr 8:27,575,546...27,613,464
Ensembl chr 8:27,575,611...27,613,464
JBrowse link
G Akt2 thymoma viral proto-oncogene 2 ISO protein:increased expression:cytoplasm (human) RGD PMID:19330838 PMID:19330838 RGD:2313297, RGD:2313297 NCBI chr 7:27,290,977...27,340,251
Ensembl chr 7:27,290,977...27,340,251
JBrowse link
G Amotl1 angiomotin-like 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:34480788 NCBI chr 9:14,453,262...14,574,408
Ensembl chr 9:14,453,262...14,556,352
JBrowse link
G Angpt2 angiopoietin 2 ISO protein:increased expression:brain (rat) RGD PMID:18615861 RGD:2314189 NCBI chr 8:18,740,279...18,791,578
Ensembl chr 8:18,740,279...18,791,578
JBrowse link
G Apod apolipoprotein D ISO CTD Direct Evidence: marker/mechanism CTD PMID:16865689 NCBI chr16:31,115,010...31,133,626
Ensembl chr16:31,115,010...31,133,626
JBrowse link
G Araf Araf proto-oncogene, serine/threonine kinase disease_progression ISO RGD PMID:27852048 RGD:13702476 NCBI chr  X:20,663,946...20,726,760
Ensembl chr  X:20,664,053...20,726,758
JBrowse link
G Areg amphiregulin ISO RGD PMID:8621257 RGD:2292668 NCBI chr 5:91,287,458...91,296,291
Ensembl chr 5:91,287,458...91,296,291
JBrowse link
G Arhgap32 Rho GTPase activating protein 32 ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr 9:31,927,921...32,176,061
Ensembl chr 9:32,027,432...32,179,742
JBrowse link
G Arid1b AT-rich interaction domain 1B ISO ClinVar Annotator: match by term: Astrocytoma ClinVar PMID:25741868 NCBI chr17:5,044,481...5,397,931
Ensembl chr17:5,044,607...5,397,931
JBrowse link
G Arl2 ADP-ribosylation factor-like 2 ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr19:6,184,419...6,191,167
Ensembl chr19:6,184,404...6,191,578
JBrowse link
G Aspm abnormal spindle microtubule assembly disease_progression ISO mRNA:increased expression:brain: RGD PMID:20142996 RGD:13442488 NCBI chr 1:139,381,450...139,421,826
Ensembl chr 1:139,382,510...139,421,829
JBrowse link
G Atf5 activating transcription factor 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28861715 NCBI chr 7:44,461,680...44,466,082
Ensembl chr 7:44,461,680...44,466,082
JBrowse link
G Atg2a autophagy related 2A ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr19:6,291,508...6,312,332
Ensembl chr19:6,291,698...6,312,365
JBrowse link
G Atg7 autophagy related 7 treatment ISO RGD PMID:25542083 RGD:11557994 NCBI chr 6:114,620,075...114,837,565
Ensembl chr 6:114,620,058...114,837,575
JBrowse link
G Atm ataxia telangiectasia mutated ISO ClinVar Annotator: match by term: Malignant glioma ClinVar PMID:8659541 PMID:8808599 PMID:9000145 PMID:9463314 PMID:10330348 More... NCBI chr 9:53,348,422...53,448,125
Ensembl chr 9:53,350,449...53,448,040
JBrowse link
G Atp1b2 ATPase, Na+/K+ transporting, beta 2 polypeptide ISO CTD Direct Evidence: marker/mechanism CTD PMID:16865689 NCBI chr11:69,490,554...69,496,786
Ensembl chr11:69,490,562...69,496,768
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:104,841,221...104,972,978
Ensembl chr  X:104,841,221...104,973,009
JBrowse link
G Bad BCL2-associated agonist of cell death ISO protein:increased phosphorylation:brain (rat)
ClinVar Annotator: match by term: Ependymoma
ClinVar
RGD
PMID:16944316 RGD:2292675 NCBI chr19:6,919,229...6,929,273
Ensembl chr19:6,919,229...6,929,267
JBrowse link
G Banp BTG3 associated nuclear protein ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr 8:122,674,711...122,755,999
Ensembl chr 8:122,676,489...122,755,997
JBrowse link
G Bap1 Brca1 associated protein 1 ISO ClinVar Annotator: match by term: Astrocytoma ClinVar PMID:25741868 NCBI chr14:30,973,358...30,981,887
Ensembl chr14:30,973,407...30,981,901
JBrowse link
G Barhl1 BarH like homeobox 1 ISO protein:increased expression:brain: RGD PMID:28956815 RGD:14390165 NCBI chr 2:28,797,692...28,807,996
Ensembl chr 2:28,797,691...28,806,680
JBrowse link
G Batf2 basic leucine zipper transcription factor, ATF-like 2 ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr19:6,214,424...6,222,506
Ensembl chr19:6,191,013...6,222,506
JBrowse link
G Bcan brevican severity ISO protein:increased expression:brain: RGD PMID:12799382 PMID:23253190 PMID:16061654 PMID:11585735 RGD:14392782, RGD:14392804, RGD:14392797, RGD:14392783 NCBI chr 3:87,894,839...87,908,458
Ensembl chr 3:87,894,838...87,907,537
JBrowse link
G Bdkrb2 bradykinin receptor, beta 2 ISO mRNA:increased expression:brain RGD PMID:20080302 RGD:4891047 NCBI chr12:105,529,431...105,561,503
Ensembl chr12:105,529,485...105,561,496
JBrowse link
G Birc5 baculoviral IAP repeat-containing 5 ISO protein:increased expression:brain RGD PMID:17701349 RGD:2293131 NCBI chr11:117,740,063...117,746,569
Ensembl chr11:117,740,077...117,746,569
JBrowse link
G Bmi1 Bmi1 polycomb ring finger oncogene ISO CTD Direct Evidence: marker/mechanism CTD PMID:23383216 NCBI chr 2:18,681,953...18,691,440
Ensembl chr 2:18,681,829...18,691,440
JBrowse link
G Braf Braf transforming gene ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Brainstem glioma
CTD
ClinVar
PMID:12068308 PMID:12198537 PMID:12447372 PMID:12460918 PMID:12460919 More... NCBI chr 6:39,580,171...39,702,592
Ensembl chr 6:39,580,171...39,702,397
JBrowse link
G Brca2 breast cancer 2, early onset ISO ClinVar Annotator: match by term: Glioma susceptibility 3
ClinVar Annotator: match by term: Brainstem glioma | 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 chr 5:150,445,759...150,493,612
Ensembl chr 5:150,446,095...150,493,794
JBrowse link
G Brd7 bromodomain containing 7 ISO protein:increased expression:brain: RGD PMID:24404152 RGD:9586441 NCBI chr 8:89,056,522...89,089,249
Ensembl chr 8:89,057,667...89,088,822
JBrowse link
G C3 complement component 3 treatment IMP RGD PMID:21678475 RGD:7401275 NCBI chr17:57,510,967...57,535,136
Ensembl chr17:57,510,970...57,535,136
JBrowse link
G Cacng2 calcium channel, voltage-dependent, gamma subunit 2 ISO ClinVar Annotator: match by term: Brainstem glioma ClinVar NCBI chr15:77,876,119...78,004,420
Ensembl chr15:77,875,948...78,004,228
JBrowse link
G Camk2a calcium/calmodulin-dependent protein kinase II alpha disease_progression ISO RGD PMID:29393370 RGD:13702478 NCBI chr18:61,058,704...61,121,224
Ensembl chr18:61,058,690...61,121,224
JBrowse link
G Camk2b calcium/calmodulin-dependent protein kinase II, beta disease_progression IEP RGD PMID:15750623 RGD:13702479 NCBI chr11:5,919,642...6,016,401
Ensembl chr11:5,919,644...6,016,362
JBrowse link
G Camkk2 calcium/calmodulin-dependent protein kinase kinase 2, beta disease_progression ISO RGD PMID:27012733 RGD:13674178 NCBI chr 5:122,856,064...122,918,295
Ensembl chr 5:122,869,233...122,917,472
JBrowse link
G Capn1 calpain 1 ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr19:6,038,573...6,065,855
Ensembl chr19:6,038,573...6,065,927
JBrowse link
G Cat catalase ISO CTD Direct Evidence: marker/mechanism CTD PMID:21138464 NCBI chr 2:103,284,249...103,315,498
Ensembl chr 2:103,284,194...103,315,505
JBrowse link
G Catsperz cation channel sperm associated auxiliary subunit zeta ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr19:6,899,794...6,902,748
Ensembl chr19:6,899,739...6,902,748
JBrowse link
G Cav1 caveolin 1, caveolae protein ISO RGD PMID:22528460 RGD:6784517 NCBI chr 6:17,306,387...17,341,323
Ensembl chr 6:17,306,334...17,341,451
JBrowse link
G Cav2 caveolin 2 ISO RGD PMID:22528460 RGD:6784517 NCBI chr 6:17,281,184...17,289,129
Ensembl chr 6:17,281,184...17,289,114
JBrowse link
G Ccdc88b coiled-coil domain containing 88B ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr19:6,821,991...6,835,586
Ensembl chr19:6,821,991...6,835,579
JBrowse link
G Ccn1 cellular communication network factor 1 exacerbates ISO human cells in mouse model RGD PMID:15026334 RGD:329845555 NCBI chr 3:145,352,726...145,355,740
Ensembl chr 3:145,352,731...145,355,736
JBrowse link
G Ccnd1 cyclin D1 susceptibility
disease_progression
ISO
IMP
RGD PMID:22304571 PMID:21844184 PMID:21844184 RGD:13681930, RGD:13702091, RGD:13702091 NCBI chr 7:144,483,668...144,493,568
Ensembl chr 7:144,483,668...144,493,662
JBrowse link
G Ccr4 C-C motif chemokine receptor 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17522861 NCBI chr 9:114,319,384...114,334,544
Ensembl chr 9:114,319,384...114,333,984
JBrowse link
G Cd40 CD40 antigen treatment IMP RGD PMID:24878890 RGD:11352275 NCBI chr 2:164,897,535...164,913,574
Ensembl chr 2:164,897,547...164,914,868
JBrowse link
G Cd80 CD80 antigen ISO RGD PMID:10078962 RGD:727266 NCBI chr16:38,277,793...38,316,682
Ensembl chr16:38,275,923...38,316,697
JBrowse link
G Cdc42bpg CDC42 binding protein kinase gamma ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr19:6,356,465...6,375,682
Ensembl chr19:6,356,486...6,375,682
JBrowse link
G Cdc42ep2 CDC42 effector protein 2 ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr19:5,967,584...5,974,844
Ensembl chr19:5,965,664...5,974,844
JBrowse link
G Cdca5 cell division cycle associated 5 ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr19:6,135,127...6,141,803
Ensembl chr19:6,135,013...6,141,807
JBrowse link
G Cdk4 cyclin dependent kinase 4 disease_progression ISO
IMP
RGD PMID:23761023 PMID:21844184 RGD:13702090, RGD:13702091 NCBI chr10:126,899,404...126,903,157
Ensembl chr10:126,899,403...126,903,789
JBrowse link
G Cdk6 cyclin dependent kinase 6 severity ISO DNA:amplification: RGD PMID:22736304 PMID:9102208 RGD:13702093, RGD:13702094 NCBI chr 5:3,391,004...3,581,008
Ensembl chr 5:3,391,485...3,581,008
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 chr17:29,309,953...29,319,696
Ensembl chr17:29,309,950...29,319,701
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 4:89,192,710...89,212,856
Ensembl chr 4:89,192,708...89,212,890
JBrowse link
G Cdkn2b cyclin dependent kinase inhibitor 2B ISO CTD Direct Evidence: marker/mechanism CTD PMID:19578366 PMID:19578367 NCBI chr 4:89,224,526...89,229,269
Ensembl chr 4:89,224,536...89,229,276
JBrowse link
G Chaf1a chromatin assembly factor 1, subunit A susceptibility ISO DNA:SNP:intron:rs243356(human) RGD PMID:18048407 RGD:9587459 NCBI chr17:56,347,404...56,375,027
Ensembl chr17:56,347,439...56,379,289
JBrowse link
G Chaf1b chromatin assembly factor 1, subunit B disease_progression ISO protein:increased expression:brain: RGD PMID:24039914 RGD:9587472 NCBI chr16:93,680,801...93,703,003
Ensembl chr16:93,680,789...93,703,003
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 chr 5:110,987,668...111,022,006
Ensembl chr 5:110,987,845...111,022,011
JBrowse link
G Chi3l1 chitinase 3 like 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20506295 NCBI chr 1:134,109,894...134,117,769
Ensembl chr 1:134,109,914...134,117,919
JBrowse link
G Clcn2 chloride channel, voltage-sensitive 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12843258 NCBI chr16:20,521,185...20,536,496
Ensembl chr16:20,521,714...20,536,496
JBrowse link
G Clcn3 chloride channel, voltage-sensitive 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12843258 NCBI chr 8:61,363,423...61,436,351
Ensembl chr 8:61,363,423...61,436,334
JBrowse link
G Clcn5 chloride channel, voltage-sensitive 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12843258 NCBI chr  X:7,020,049...7,185,597
Ensembl chr  X:7,020,049...7,185,597
JBrowse link
G Cntn2 contactin 2 severity ISO RGD PMID:11280781 RGD:734799 NCBI chr 1:132,437,163...132,470,989
Ensembl chr 1:132,437,165...132,470,994
JBrowse link
G Cox8a cytochrome c oxidase subunit 8A ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr19:7,192,523...7,194,981
Ensembl chr19:7,192,518...7,194,981
JBrowse link
G Cplane1 ciliogenesis and planar polarity effector 1 ISO ClinVar Annotator: match by term: Astrocytoma ClinVar PMID:25741868 PMID:28492532 NCBI chr15:8,198,509...8,300,642
Ensembl chr15:8,198,590...8,300,642
JBrowse link
G Csf1 colony stimulating factor 1 (macrophage) ISO RGD PMID:15728459 RGD:2293641 NCBI chr 3:107,648,364...107,668,048
Ensembl chr 3:107,648,364...107,667,785
JBrowse link
G Ctsb cathepsin B ISO RGD PMID:17287256 RGD:2315520 NCBI chr14:63,359,911...63,383,372
Ensembl chr14:63,359,911...63,383,372
JBrowse link
G Cxcr3 C-X-C motif chemokine receptor 3 ISO RGD PMID:16434036 RGD:5135509 NCBI chr  X:100,775,141...100,777,753
Ensembl chr  X:100,775,141...100,777,875
JBrowse link
G Cyp2e1 cytochrome P450, family 2, subfamily e, polypeptide 1 ISO DNA:snp:promoter:c.-1053C>T (human) RGD PMID:12540498 RGD:1358568 NCBI chr 7:140,343,732...140,354,903
Ensembl chr 7:140,343,652...140,354,900
JBrowse link
G Dcn decorin disease_progression ISO RGD PMID:15475879 RGD:2311425 NCBI chr10:97,315,362...97,354,025
Ensembl chr10:97,315,471...97,354,005
JBrowse link
G Dcx doublecortin disease_progression
treatment
IMP
ISO
RGD PMID:17178868 PMID:21477071 PMID:19681167 RGD:12904748, RGD:12904761, RGD:12904754 NCBI chr  X:142,638,838...142,716,392
Ensembl chr  X:142,638,838...142,716,307
JBrowse link
G Ddr1 discoidin domain receptor family, member 1 severity ISO mRNA, protein:increased expression:brain (human) RGD PMID:16652150 RGD:151347531 NCBI chr17:35,992,459...36,015,633
Ensembl chr17:35,992,459...36,015,513
JBrowse link
G Depdc5 DEP domain containing 5 ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr 5:33,020,996...33,151,581
Ensembl chr 5:33,021,045...33,151,580
JBrowse link
G Dlk1 delta like non-canonical Notch ligand 1 ISO RGD PMID:16288219 RGD:1625600 NCBI chr12:109,418,411...109,429,262
Ensembl chr12:109,418,749...109,429,262
JBrowse link
G Dll4 delta like canonical Notch ligand 4 ameliorates IMP RGD PMID:17183313 RGD:155791441 NCBI chr 2:119,156,286...119,166,145
Ensembl chr 2:119,156,265...119,166,443
JBrowse link
G Dmxl1 Dmx-like 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16865689 NCBI chr18:49,965,657...50,098,540
Ensembl chr18:49,965,737...50,098,540
JBrowse link
G Dnajc4 DnaJ heat shock protein family (Hsp40) member C4 ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr19:6,965,279...6,969,954
Ensembl chr19:6,965,279...6,969,940
JBrowse link
G Dpf2 double PHD fingers 2 ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr19:5,946,544...5,962,899
Ensembl chr19:5,946,544...5,963,038
JBrowse link
G E2f1 E2F transcription factor 1 severity ISO RGD PMID:28042322 RGD:13702468 NCBI chr 2:154,401,320...154,411,812
Ensembl chr 2:154,401,327...154,411,812
JBrowse link
G E2f3 E2F transcription factor 3 disease_progression ISO RGD PMID:28337965 RGD:13702470 NCBI chr13:30,090,558...30,171,172
Ensembl chr13:30,090,558...30,170,046
JBrowse link
G Efemp1 epidermal growth factor-containing fibulin-like extracellular matrix protein 1 ISO protein:increased expression:brain: RGD PMID:19887559 RGD:10401656 NCBI chr11:28,803,154...28,876,743
Ensembl chr11:28,803,204...28,876,743
JBrowse link
G Efl1 elongation factor like GTPase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25015090 NCBI chr 7:82,297,811...82,427,060
Ensembl chr 7:82,297,822...82,427,060
JBrowse link
G Egf epidermal growth factor susceptibility ISO DNA:polymorphism:promoter:+61A>G(human)
DNA:polymorphism:promoter:GG genotypes were associated with increased risk.
RGD PMID:22106858 PMID:17473192 RGD:13702473, RGD:13702474 NCBI chr 3:129,471,223...129,548,971
Ensembl chr 3:129,471,214...129,548,965
JBrowse link
G Egfr epidermal growth factor receptor treatment ISO 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 chr11:16,700,153...16,868,158
Ensembl chr11:16,702,203...16,868,158
JBrowse link
G Ehbp1l1 EH domain binding protein 1-like 1 ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr19:5,757,397...5,776,504
Ensembl chr19:5,757,404...5,776,345
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 chr19:6,326,926...6,350,126
Ensembl chr19:6,326,755...6,350,126
JBrowse link
G Entpd2 ectonucleoside triphosphate diphosphohydrolase 2 ISO RGD PMID:19558578 RGD:9685528 NCBI chr 2:25,285,886...25,291,335
Ensembl chr 2:25,285,886...25,291,333
JBrowse link
G Epha5 Eph receptor A5 ISO ClinVar Annotator: match by term: Astrocytoma ClinVar PMID:25741868 NCBI chr 5:84,199,024...84,565,677
Ensembl chr 5:84,202,620...84,565,241
JBrowse link
G Epo erythropoietin ISO RGD PMID:21749867 RGD:10400910 NCBI chr 5:137,481,282...137,484,078
Ensembl chr 5:137,481,282...137,531,504
JBrowse link
G Epor erythropoietin receptor ISO RGD PMID:21749867 RGD:10400910 NCBI chr 9:21,870,193...21,874,915
Ensembl chr 9:21,870,193...21,874,802
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 chr11:98,303,310...98,328,542
Ensembl chr11:98,303,296...98,328,542
JBrowse link
G Ercc1 excision repair cross-complementing rodent repair deficiency, complementation group 1 susceptibility ISO DNA:snp:3'utr:c.8092C>A (human) (rs3212986) RGD PMID:25867436 RGD:13207318 NCBI chr 7:19,079,016...19,090,449
Ensembl chr 7:19,078,703...19,090,449
JBrowse link
G Ercc2 excision repair cross-complementing rodent repair deficiency, complementation group 2 susceptibility ISO RGD PMID:11319176 RGD:10401082 NCBI chr 7:19,115,942...19,129,619
Ensembl chr 7:19,115,935...19,129,619
JBrowse link
G Ercc5 excision repair cross-complementing rodent repair deficiency, complementation group 5 susceptibility ISO DNA:SNP:cd: p.D1558H (rs17655) (human) RGD PMID:23534771 RGD:401850601 NCBI chr 1:44,184,084...44,220,399
Ensembl chr 1:44,186,904...44,220,420
JBrowse link
G Esrra estrogen related receptor, alpha ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr19:6,888,345...6,899,182
Ensembl chr19:6,888,345...6,899,208
JBrowse link
G F2 coagulation factor II treatment ISO RGD PMID:15975137 RGD:1578509 NCBI chr 2:91,442,742...91,466,799
Ensembl chr 2:91,455,665...91,466,759
JBrowse link
G Fam107a family with sequence similarity 107, member A ISO CTD Direct Evidence: marker/mechanism CTD PMID:16865689 NCBI chr14:14,152,166...14,173,503
Ensembl chr14:14,151,750...14,173,499
JBrowse link
G Fam89b family with sequence similarity 89, member B ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr19:5,778,115...5,779,694
Ensembl chr19:5,778,115...5,779,681
JBrowse link
G Fas Fas cell surface death receptor severity IMP mouse gene in a rat model RGD PMID:11440439 RGD:8663460 NCBI chr19:34,267,926...34,305,175
Ensembl chr19:34,268,066...34,305,172
JBrowse link
G Fau FAU ubiquitin like and ribosomal protein S30 fusion ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr19:6,107,977...6,109,554
Ensembl chr19:6,107,874...6,109,554
JBrowse link
G Fbxw7 F-box and WD-40 domain protein 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18931460 NCBI chr 3:84,721,901...84,886,505
Ensembl chr 3:84,722,575...84,886,505
JBrowse link
G Fermt3 fermitin family member 3 ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr19:6,976,326...6,996,837
Ensembl chr19:6,976,326...6,996,837
JBrowse link
G Fgf2 fibroblast growth factor 2 ISO CTD Direct Evidence: therapeutic CTD PMID:10673511 NCBI chr 3:37,402,616...37,464,255
Ensembl chr 3:37,402,495...37,464,257
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 chr 8:26,008,808...26,067,819
Ensembl chr 8:26,003,670...26,065,734
JBrowse link
G Fkbp2 FK506 binding protein 2 ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr19:6,955,105...6,957,832
Ensembl chr19:6,955,109...6,957,869
JBrowse link
G Flrt1 fibronectin leucine rich transmembrane protein 1 ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr19:7,064,829...7,143,548
Ensembl chr19:7,069,366...7,083,094
JBrowse link
G Flt3l FMS-like tyrosine kinase 3 ligand treatment ISO RGD PMID:15564139 RGD:11049500 NCBI chr 7:44,780,607...44,785,914
Ensembl chr 7:44,779,212...44,785,856
JBrowse link
G Frmd8 FERM domain containing 8 ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr19:5,901,002...5,925,297
Ensembl chr19:5,899,730...5,925,302
JBrowse link
G Fth1 ferritin heavy polypeptide 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21385903 NCBI chr19:9,957,964...9,962,475
Ensembl chr19:9,957,962...9,962,462
JBrowse link
G Gdnf glial cell line derived neurotrophic factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:19138852 NCBI chr15:7,839,529...7,867,061
Ensembl chr15:7,840,327...7,867,056
JBrowse link
G Gja1 gap junction protein, alpha 1 ISO RGD PMID:22808518 RGD:7207264 NCBI chr10:56,253,297...56,266,519
Ensembl chr10:56,253,426...56,278,609
JBrowse link
G Glb1 galactosidase, beta 1 ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr 9:114,230,146...114,303,447
Ensembl chr 9:114,230,144...114,303,966
JBrowse link
G Gon4l gon-4 like ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr 3:88,742,531...88,817,406
Ensembl chr 3:88,742,535...88,817,410
JBrowse link
G Gpha2 glycoprotein hormone alpha 2 ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr19:6,276,431...6,277,798
Ensembl chr19:6,276,410...6,277,798
JBrowse link
G Gpr137 G protein-coupled receptor 137 ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr19:6,915,425...6,919,818
Ensembl chr19:6,915,425...6,919,848
JBrowse link
G Gstm1 glutathione S-transferase, mu 1 severity ISO RGD PMID:10965818 RGD:5490163 NCBI chr 3:107,919,566...107,925,289
Ensembl chr 3:107,919,571...107,925,289
JBrowse link
G Gstm3 glutathione S-transferase, mu 3 ISO DNA: deletion: intron 6 RGD PMID:16598069 RGD:5688743 NCBI chr 3:107,871,019...107,876,484
Ensembl chr 3:107,871,012...107,876,599
JBrowse link
G Gstm5 glutathione S-transferase, mu 5 ISO DNA: deletion: intron 6 RGD PMID:16598069 RGD:5688743 NCBI chr 3:107,803,240...107,806,002
Ensembl chr 3:107,803,137...107,806,002
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 chr19:4,085,411...4,087,912
Ensembl chr19:4,085,407...4,087,985
JBrowse link
G H2-M2 histocompatibility 2, M region locus 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14511464 NCBI chr17:37,791,742...37,794,445
Ensembl chr17:37,791,742...37,794,443
JBrowse link
G H2-Q1 histocompatibility 2, Q region locus 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14511464 NCBI chr17:35,539,503...35,547,118
Ensembl chr17:35,539,381...35,544,075
JBrowse link
G H3f3a H3.3 histone A ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Brainstem glioma
CTD
ClinVar
PMID:22286216 PMID:23583981 PMID:26619011 NCBI chr 1:180,630,125...180,641,127
Ensembl chr 1:180,628,397...180,641,508
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 chr18:38,070,024...38,088,073
Ensembl chr18:38,068,897...38,088,069
JBrowse link
G Hells helicase, lymphoid specific severity ISO RGD PMID:28042322 RGD:13702468 NCBI chr19:38,913,282...38,958,914
Ensembl chr19:38,919,359...38,959,495
JBrowse link
G Hgf hepatocyte growth factor disease_progression ISO protein:increased expression:brain: RGD PMID:12115353 RGD:8548633 NCBI chr 5:16,758,493...16,827,448
Ensembl chr 5:16,758,493...16,825,150
JBrowse link
G Hmgb1 high mobility group box 1 treatment ISO RGD PMID:10830965 RGD:10402059 NCBI chr 5:148,983,512...148,989,867
Ensembl chr 5:148,983,512...149,121,299
JBrowse link
G Hmgn5 high-mobility group nucleosome binding domain 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22109888 NCBI chr  X:108,048,143...108,056,986
Ensembl chr  X:108,048,140...108,057,010
JBrowse link
G Hoxd11 homeobox D11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:33614284 NCBI chr 2:74,509,902...74,517,360
Ensembl chr 2:74,509,901...74,517,360
JBrowse link
G Hras Harvey rat sarcoma virus oncogene ISO CTD Direct Evidence: marker/mechanism CTD PMID:30619488 NCBI chr 7:140,770,839...140,773,938
Ensembl chr 7:140,769,018...140,773,918
JBrowse link
G Hspa5 heat shock protein 5 ISO protein:increased expression RGD PMID:21112319 RGD:5685704 NCBI chr 2:34,662,102...34,666,541
Ensembl chr 2:34,661,982...34,667,559
JBrowse link
G Idh1 isocitrate dehydrogenase 1 (NADP+), soluble 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 1:65,197,775...65,225,638
Ensembl chr 1:65,197,775...65,225,659
JBrowse link
G Idh2 isocitrate dehydrogenase 2 (NADP+), mitochondrial ISO ClinVar Annotator: match by term: Brainstem glioma ClinVar PMID:20946881 PMID:21250968 PMID:21596855 PMID:21997850 PMID:22160010 More... NCBI chr 7:79,744,594...79,768,356
Ensembl chr 7:79,744,594...79,765,140
JBrowse link
G Ifng interferon gamma ISO RGD PMID:10078962 RGD:727266 NCBI chr10:118,276,951...118,281,799
Ensembl chr10:118,276,951...118,281,797
JBrowse link
G Igf1 insulin-like growth factor 1 severity ISO protein:increased expression:serum: RGD PMID:21788435 RGD:8548833 NCBI chr10:87,694,127...87,772,909
Ensembl chr10:87,694,127...87,772,904
JBrowse link
G Igf1r insulin-like growth factor I receptor ISO DNA: SNP: : rs2272037 or rs2016347 RGD PMID:18562769 RGD:5686434 NCBI chr 7:67,601,486...67,883,416
Ensembl chr 7:67,602,575...67,883,416
JBrowse link
G Igfbp3 insulin-like growth factor binding protein 3 severity ISO protein:increased expression:serum: RGD PMID:21788435 RGD:8548833 NCBI chr11:7,156,086...7,165,498
Ensembl chr11:7,156,086...7,163,923
JBrowse link
G Il10 interleukin 10 susceptibility ISO DNA:SNP: :rs1800896 (human) RGD PMID:20406895 RGD:4140470 NCBI chr 1:130,947,459...130,952,707
Ensembl chr 1:130,947,582...130,952,711
JBrowse link
G Il12a interleukin 12a ISO CTD Direct Evidence: therapeutic CTD PMID:18176109 NCBI chr 3:68,597,977...68,605,881
Ensembl chr 3:68,597,977...68,605,880
JBrowse link
G Il12b interleukin 12b ISO CTD Direct Evidence: therapeutic CTD PMID:18176109 NCBI chr11:44,290,890...44,305,504
Ensembl chr11:44,290,890...44,304,860
JBrowse link
G Il18 interleukin 18 treatment IMP RGD PMID:18725309 RGD:8657054 NCBI chr 9:50,466,000...50,493,141
Ensembl chr 9:50,466,127...50,493,140
JBrowse link
G Il2 interleukin 2 treatment ISO RGD PMID:12864971 RGD:8663439 NCBI chr 3:37,174,862...37,180,103
Ensembl chr 3:37,174,672...37,180,108
JBrowse link
G Il4 interleukin 4 treatment IMP RGD PMID:9973213 RGD:8142389 NCBI chr11:53,503,287...53,509,492
Ensembl chr11:53,493,809...53,509,496
JBrowse link
G Il7 interleukin 7 ISO RGD PMID:10078962 RGD:727266 NCBI chr 3:7,637,088...7,678,820
Ensembl chr 3:7,635,054...7,678,820
JBrowse link
G Isg15 ISG15 ubiquitin-like modifier ISO CTD Direct Evidence: marker/mechanism CTD PMID:35506701 NCBI chr 4:156,283,881...156,285,275
Ensembl chr 4:156,283,912...156,285,253
JBrowse link
G Kat6b K(lysine) acetyltransferase 6B ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr14:21,549,284...21,722,546
Ensembl chr14:21,531,502...21,722,546
JBrowse link
G Kcnk4 potassium channel, subfamily K, member 4 ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr19:6,903,030...6,912,261
Ensembl chr19:6,901,334...6,911,883
JBrowse link
G Kcnk7 potassium channel, subfamily K, member 7 ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr19:5,754,471...5,757,956
Ensembl chr19:5,754,395...5,757,137
JBrowse link
G Kdm5b lysine demethylase 5B disease_progression ISO RGD PMID:25450384 PMID:25450384 RGD:13702126, RGD:13702126 NCBI chr 1:134,487,916...134,560,621
Ensembl chr 1:134,487,909...134,563,023
JBrowse link
G Kdr kinase insert domain protein receptor disease_progression
severity
IMP
ISO
RGD PMID:20501615 PMID:10506722 RGD:5684393, RGD:5684425 NCBI chr 5:76,093,487...76,139,880
Ensembl chr 5:76,093,487...76,139,118
JBrowse link
G Klhl21 kelch-like 21 ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr 4:152,093,348...152,102,134
Ensembl chr 4:152,093,260...152,102,137
JBrowse link
G Kmt2d lysine (K)-specific methyltransferase 2D ISO ClinVar Annotator: match by term: Astrocytoma ClinVar PMID:25741868 NCBI chr15:98,729,550...98,771,958
Ensembl chr15:98,729,550...98,769,085
JBrowse link
G Kras Kirsten rat sarcoma viral oncogene homolog severity ISO
IMP
RGD PMID:22207524 PMID:19435821 RGD:13702477, RGD:13702860 NCBI chr 6:145,162,425...145,197,631
Ensembl chr 6:145,162,425...145,195,965
JBrowse link
G Kremen2 kringle containing transmembrane protein 2 ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr17:23,960,173...23,965,305
Ensembl chr17:23,960,171...23,964,807
JBrowse link
G Lats1 large tumor suppressor ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr10:7,556,964...7,592,225
Ensembl chr10:7,556,978...7,592,224
JBrowse link
G Letm1 leucine zipper-EF-hand containing transmembrane protein 1 ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr 5:33,897,017...33,940,061
Ensembl chr 5:33,897,017...33,940,161
JBrowse link
G Lgals3 lectin, galactose binding, soluble 3 disease_progression ISO RGD PMID:23179497 RGD:9685225 NCBI chr14:47,611,317...47,623,624
Ensembl chr14:47,605,208...47,623,617
JBrowse link
G Lig4 ligase IV, DNA, ATP-dependent ISO DNA:SNP: :rs1805388 (human) RGD PMID:23663450 RGD:13204718 NCBI chr 8:10,020,020...10,027,680
Ensembl chr 8:10,019,049...10,027,686
JBrowse link
G Lta lymphotoxin A treatment ISO RGD PMID:1883913 RGD:1625042 NCBI chr17:35,422,141...35,424,568
Ensembl chr17:35,422,141...35,424,327
JBrowse link
G Ltbp3 latent transforming growth factor beta binding protein 3 ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr19:5,790,928...5,808,564
Ensembl chr19:5,790,932...5,808,560
JBrowse link
G Macrod1 mono-ADP ribosylhydrolase 1 ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr19:7,034,065...7,175,427
Ensembl chr19:7,034,178...7,175,422
JBrowse link
G Majin membrane anchored junction protein ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr19:6,234,358...6,274,349
Ensembl chr19:6,234,418...6,274,255
JBrowse link
G Malat1 metastasis associated lung adenocarcinoma transcript 1 (non-coding RNA) ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr19:5,845,718...5,852,700
Ensembl chr19:5,845,717...5,852,706
JBrowse link
G Map2k1 mitogen-activated protein kinase kinase 1 ISO RGD PMID:21057530 RGD:13702863 NCBI chr 9:64,093,066...64,160,887
Ensembl chr 9:64,093,052...64,160,913
JBrowse link
G Map3k11 mitogen-activated protein kinase kinase kinase 11 ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr19:5,738,764...5,752,893
Ensembl chr19:5,738,770...5,752,893
JBrowse link
G Map4k2 mitogen-activated protein kinase kinase kinase kinase 2 ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr19:6,391,023...6,405,649
Ensembl chr19:6,391,165...6,405,645
JBrowse link
G Map4k3 mitogen-activated protein kinase kinase kinase kinase 3 ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr17:80,887,942...81,039,118
Ensembl chr17:80,887,941...81,035,914
JBrowse link
G Mapk3 mitogen-activated protein kinase 3 IMP RGD PMID:27256374 RGD:13702865 NCBI chr 7:126,358,798...126,364,988
Ensembl chr 7:126,358,773...126,364,991
JBrowse link
G Mark2 MAP/microtubule affinity regulating kinase 2 ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr19:7,252,761...7,319,222
Ensembl chr19:7,252,761...7,319,225
JBrowse link
G Mdk midkine ISO CTD Direct Evidence: marker/mechanism CTD PMID:21233844 NCBI chr 2:91,760,149...91,762,348
Ensembl chr 2:91,760,150...91,762,642
JBrowse link
G Men1 multiple endocrine neoplasia 1 ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr19:6,385,009...6,390,924
Ensembl chr19:6,385,009...6,390,921
JBrowse link
G Met met proto-oncogene ISO protein:increased expression:brain, glioma (rat) RGD PMID:18194445 RGD:2317467 NCBI chr 6:17,463,351...17,573,979
Ensembl chr 6:17,463,799...17,573,979
JBrowse link
G Mgmt O-6-methylguanine-DNA methyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16033832 PMID:16899598 PMID:19901110 NCBI chr 7:136,496,315...136,732,001
Ensembl chr 7:136,496,343...136,731,995
JBrowse link
G Mir192 microRNA 192 ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr19:6,314,874...6,314,962
Ensembl chr19:6,314,874...6,314,962
JBrowse link
G Mir194-2 microRNA 194-2 ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr19:6,314,673...6,314,758
Ensembl chr19:6,314,673...6,314,758
JBrowse link
G Mir215 microRNA 215 disease_progression ISO RGD PMID:28573541 RGD:13782061 NCBI chr 1:185,045,778...185,045,889
Ensembl chr 1:185,045,778...185,045,889
JBrowse link
G Mki67 antigen identified by monoclonal antibody Ki 67 ISO RGD PMID:22262719 RGD:6483547 NCBI chr 7:135,291,513...135,318,286
Ensembl chr 7:135,291,513...135,318,090
JBrowse link
G Mmp2 matrix metallopeptidase 2 treatment ISO RGD PMID:19292920 RGD:8657080 NCBI chr 8:93,553,920...93,580,049
Ensembl chr 8:93,553,919...93,580,048
JBrowse link
G Mrpl49 mitochondrial ribosomal protein L49 ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr19:6,103,660...6,107,785
Ensembl chr19:6,103,652...6,107,815
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 chr17:87,979,960...88,031,141
Ensembl chr17:87,979,758...88,031,141
JBrowse link
G mt-Nd4 NADH dehydrogenase 4, mitochondrial ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr MT:10,167...11,544
Ensembl chr MT:10,167...11,544
JBrowse link
G Mtor mechanistic target of rapamycin kinase severity ISO RGD PMID:20878445 RGD:13702868 NCBI chr 4:148,533,039...148,642,142
Ensembl chr 4:148,533,068...148,642,140
JBrowse link
G Myb myeloblastosis oncogene ISO CTD Direct Evidence: marker/mechanism CTD PMID:23583981 PMID:26829751 NCBI chr10:21,000,829...21,036,883
Ensembl chr10:21,000,834...21,036,883
JBrowse link
G Mybl1 myeloblastosis oncogene-like 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23583981 NCBI chr 1:9,737,632...9,770,664
Ensembl chr 1:9,737,640...9,770,434
JBrowse link
G Mylk myosin, light polypeptide kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:10232591 NCBI chr16:34,565,569...34,822,806
Ensembl chr16:34,565,580...34,822,790
JBrowse link
G Naa40 N(alpha)-acetyltransferase 40, NatD catalytic subunit ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr19:7,203,033...7,218,587
Ensembl chr19:7,203,033...7,218,548
JBrowse link
G Naaladl1 N-acetylated alpha-linked acidic dipeptidase-like 1 ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr19:6,155,811...6,166,019
Ensembl chr19:6,155,812...6,165,822
JBrowse link
G Nadsyn1 NAD synthetase 1 susceptibility ISO RGD PMID:22740028 RGD:13703114 NCBI chr 7:143,349,326...143,376,598
Ensembl chr 7:143,349,321...143,376,586
JBrowse link
G Ndrg4 N-myc downstream regulated gene 4 disease_progression ISO protein:decreased expression:brain RGD PMID:22399192 RGD:7247727 NCBI chr 8:96,403,602...96,441,584
Ensembl chr 8:96,403,608...96,441,747
JBrowse link
G Neat1 nuclear paraspeckle assembly transcript 1 (non-protein coding) ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr19:5,874,736...5,895,508
Ensembl chr19:5,874,736...5,895,898
JBrowse link
G Net1 neuroepithelial cell transforming gene 1 ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr13:3,932,018...3,968,220
Ensembl chr13:3,932,018...3,968,220
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 chr11:79,223,541...79,472,435
Ensembl chr11:79,230,519...79,472,438
JBrowse link
G Nf2 neurofibromin 2 ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr11:4,715,845...4,799,544
Ensembl chr11:4,715,845...4,799,536
JBrowse link
G Nos3 nitric oxide synthase 3, endothelial cell ISO protein:increased expression:blood vessel endothelial cell RGD PMID:14672505 RGD:2292080 NCBI chr 5:24,569,772...24,589,472
Ensembl chr 5:24,569,808...24,589,472
JBrowse link
G Nrxn2 neurexin II ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr19:6,468,786...6,583,247
Ensembl chr19:6,468,761...6,594,199
JBrowse link
G Ntrk1 neurotrophic tyrosine kinase, receptor, type 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24705251 NCBI chr 3:87,685,551...87,702,549
Ensembl chr 3:87,685,551...87,702,469
JBrowse link
G Ntrk2 neurotrophic tyrosine kinase, receptor, type 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24705251 NCBI chr13:58,954,363...59,281,782
Ensembl chr13:58,954,383...59,281,784
JBrowse link
G Ntrk3 neurotrophic tyrosine kinase, receptor, type 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24705251 NCBI chr 7:77,825,711...78,228,865
Ensembl chr 7:77,825,707...78,387,760
JBrowse link
G Nudt22 nudix hydrolase 22 ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr19:6,970,387...6,973,471
Ensembl chr19:6,970,386...6,973,485
JBrowse link
G Otub1 OTU domain, ubiquitin aldehyde binding 1 ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr19:7,175,571...7,183,649
Ensembl chr19:7,175,567...7,183,681
JBrowse link
G Otud5 OTU domain containing 5 ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr  X:7,705,852...7,742,861
Ensembl chr  X:7,707,603...7,742,865
JBrowse link
G Patz1 POZ (BTB) and AT hook containing zinc finger 1 ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr11:3,239,131...3,259,083
Ensembl chr11:3,238,874...3,259,083
JBrowse link
G Pcmt1 protein-L-isoaspartate (D-aspartate) O-methyltransferase 1 ISO mRNA:decreased expression:brain: RGD PMID:15857672 RGD:10448283 NCBI chr10:7,503,608...7,556,922
Ensembl chr10:7,505,137...7,556,900
JBrowse link
G Pcnx3 pecanex homolog 3 ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr19:5,714,663...5,739,036
Ensembl chr19:5,714,663...5,738,936
JBrowse link
G Pdap1 PDGFA associated protein 1 severity ISO RGD PMID:27448842 RGD:13702895 NCBI chr 5:145,065,580...145,076,835
Ensembl chr 5:145,065,579...145,077,048
JBrowse link
G Pdgfa platelet derived growth factor, alpha ISO in a mouse model RGD PMID:21490965 RGD:13702894 NCBI chr 5:138,961,761...138,986,336
Ensembl chr 5:138,961,769...138,983,125
JBrowse link
G Pdgfb platelet derived growth factor, B polypeptide severity ISO RGD PMID:27448842 PMID:21677873 PMID:26945107 RGD:13702895, RGD:13702897, RGD:13702896 NCBI chr15:79,880,066...79,899,178
Ensembl chr15:79,880,075...79,899,178
JBrowse link
G Phldb1 pleckstrin homology like domain, family B, member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19578367 NCBI chr 9:44,597,605...44,649,800
Ensembl chr 9:44,597,601...44,646,495
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 3:32,451,203...32,520,256
Ensembl chr 3:32,451,820...32,522,635
JBrowse link
G Pik3r3 phosphoinositide-3-kinase regulatory subunit 3 treatment ISO RGD PMID:28260020 RGD:13782053 NCBI chr 4:116,078,593...116,160,253
Ensembl chr 4:116,078,815...116,160,253
Ensembl chr 4:116,078,815...116,160,253
JBrowse link
G Plau plasminogen activator, urokinase severity ISO protein:increased expression:brain (human) RGD PMID:7604873 RGD:7241260 NCBI chr14:20,886,730...20,893,456
Ensembl chr14:20,886,728...20,893,453
JBrowse link
G Plcb3 phospholipase C, beta 3 ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr19:6,931,081...6,951,738
Ensembl chr19:6,929,693...6,953,838
JBrowse link
G Plk1 polo like kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22000864 NCBI chr 7:121,758,658...121,769,107
Ensembl chr 7:121,758,662...121,769,096
JBrowse link
G Pola2 polymerase (DNA directed), alpha 2 ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr19:5,990,574...6,014,266
Ensembl chr19:5,990,570...6,014,230
JBrowse link
G Pot1a protection of telomeres 1A ISO ClinVar Annotator: match by term: Glioma susceptibility 1 | ClinVar Annotator: match by term: Glioma susceptibility 9 ClinVar PMID:25741868 PMID:28492532 PMID:32191290 NCBI chr 6:25,743,939...25,809,280
Ensembl chr 6:25,743,736...25,809,245
JBrowse link
G Pou3f4 POU domain, class 3, transcription factor 4 ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr  X:109,857,985...109,862,714
Ensembl chr  X:109,857,886...109,860,813
JBrowse link
G Pou5f1 POU domain, class 5, transcription factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:35506701 NCBI chr17:35,816,929...35,821,674
Ensembl chr17:35,816,915...35,821,669
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 6:115,337,828...115,467,365
Ensembl chr 6:115,337,912...115,467,360
JBrowse link
G Ppm1d protein phosphatase 1D magnesium-dependent, delta isoform ISO CTD Direct Evidence: marker/mechanism CTD PMID:24880341 NCBI chr11:85,202,080...85,237,897
Ensembl chr11:85,202,070...85,237,892
JBrowse link
G Ppp1r14b protein phosphatase 1, regulatory inhibitor subunit 14B ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr19:6,952,416...6,954,692
Ensembl chr19:6,952,336...6,954,692
JBrowse link
G Ppp2r5b protein phosphatase 2, regulatory subunit B', beta ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr19:6,277,795...6,286,294
Ensembl chr19:6,277,795...6,285,902
JBrowse link
G Prdx5 peroxiredoxin 5 ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr19:6,884,065...6,887,474
Ensembl chr19:6,884,065...6,887,474
JBrowse link
G Prkca protein kinase C, alpha ISO DNA:gene fusion: : RGD PMID:26671581 RGD:11087038 NCBI chr11:107,824,213...108,237,360
Ensembl chr11:107,824,213...108,234,754
JBrowse link
G Psd3 pleckstrin and Sec7 domain containing 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16865689 NCBI chr 8:68,141,728...68,664,740
Ensembl chr 8:68,141,734...68,664,679
JBrowse link
G Pten phosphatase and tensin homolog ISO CTD Direct Evidence: marker/mechanism
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
ClinVar
OMIM
RGD
PMID:1336932 PMID:7728760 PMID:8980400 PMID:9140396 PMID:9241266 More... RGD:12801495 NCBI chr19:32,734,977...32,803,560
Ensembl chr19:32,734,897...32,803,560
JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15561105 NCBI chr 1:149,975,851...149,983,978
Ensembl chr 1:149,975,782...149,983,978
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 chr 5:121,268,596...121,329,460
Ensembl chr 5:121,268,596...121,329,460
JBrowse link
G Pygm muscle glycogen phosphorylase ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr19:6,434,438...6,448,494
Ensembl chr19:6,434,429...6,448,489
JBrowse link
G Qki quaking, KH domain containing RNA binding ISO CTD Direct Evidence: marker/mechanism CTD PMID:26829751 NCBI chr17:10,425,480...10,538,706
Ensembl chr17:10,421,530...10,538,783
JBrowse link
G Raf1 v-raf-leukemia viral oncogene 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Glioma
CTD
ClinVar
PMID:23583981 NCBI chr 6:115,595,530...115,653,596
Ensembl chr 6:115,595,028...115,653,596
JBrowse link
G Rasgrp2 RAS, guanyl releasing protein 2 ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr19:6,449,038...6,465,243
Ensembl chr19:6,449,370...6,465,246
JBrowse link
G Rassf1 Ras association (RalGDS/AF-6) domain family member 1 ISO RGD PMID:17325427 RGD:2291979 NCBI chr 9:107,428,752...107,439,460
Ensembl chr 9:107,428,754...107,439,466
JBrowse link
G Rcor2 REST corepressor 2 ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr19:7,244,759...7,252,590
Ensembl chr19:7,244,690...7,252,590
JBrowse link
G Rela v-rel reticuloendotheliosis viral oncogene homolog A (avian) ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr19:5,686,993...5,698,162
Ensembl chr19:5,687,511...5,698,158
JBrowse link
G Ret ret proto-oncogene ISO ClinVar Annotator: match by term: Ependymoma ClinVar PMID:25741868 NCBI chr 6:118,128,709...118,174,705
Ensembl chr 6:118,128,706...118,174,679
JBrowse link
G Rnf43 ring finger protein 43 exacerbates ISO protein:decreased expression:brain, brainstem (human) RGD PMID:25755738 RGD:151361124 NCBI chr11:87,553,913...87,626,365
Ensembl chr11:87,553,548...87,626,365
JBrowse link
G Ros1 Ros1 proto-oncogene ISO CTD Direct Evidence: marker/mechanism CTD PMID:19276365 NCBI chr10:51,920,959...52,071,494
Ensembl chr10:51,921,817...52,071,340
JBrowse link
G Rps6ka4 ribosomal protein S6 kinase, polypeptide 4 ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr19:6,806,573...6,819,513
Ensembl chr19:6,806,578...6,818,004
JBrowse link
G Rtel1 regulator of telomere elongation helicase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19578366 PMID:19578367 NCBI chr 2:180,961,504...180,998,409
Ensembl chr 2:180,961,532...180,998,409
JBrowse link
G Sac3d1 SAC3 domain containing 1 ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr19:6,166,025...6,168,689
Ensembl chr19:6,166,030...6,168,680
JBrowse link
G Scyl1 SCY1-like 1 (S. cerevisiae) ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr19:5,808,450...5,821,461
Ensembl chr19:5,808,379...5,821,447
JBrowse link
G Serpine1 serine (or cysteine) peptidase inhibitor, clade E, member 1 ISO protein:increased expression:plasma RGD PMID:14977830 RGD:13208546 NCBI chr 5:137,090,358...137,101,126
Ensembl chr 5:137,090,358...137,101,122
JBrowse link
G Setd9-ps SET domain containing 9, pseudogene ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr13:111,858,051...111,860,850
Ensembl chr13:111,858,013...111,860,868
JBrowse link
G Setdb1 SET domain, bifurcated 1 severity ISO protein:increased expression:brain, cell nucleus (human) RGD PMID:23943221 RGD:9590166 NCBI chr 3:95,230,836...95,264,513
Ensembl chr 3:95,230,836...95,264,513
JBrowse link
G Sf1 splicing factor 1 ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr19:6,413,952...6,428,060
Ensembl chr19:6,413,720...6,428,060
JBrowse link
G Sh3gl1 SH3-domain GRB2-like 1 disease_progression
severity
ISO protein:increased expression:cytoplasm,white matter: RGD PMID:23050879 PMID:23050879 PMID:23050879 RGD:13463483, RGD:13463483, RGD:13463483 NCBI chr17:56,323,750...56,343,659
Ensembl chr17:56,323,750...56,343,635
JBrowse link
G Sh3tc2 SH3 domain and tetratricopeptide repeats 2 ISO ClinVar Annotator: match by term: Brainstem glioma ClinVar NCBI chr18:62,086,002...62,148,790
Ensembl chr18:62,086,146...62,157,473
JBrowse link
G Sipa1 signal-induced proliferation associated gene 1 ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr19:5,701,211...5,713,758
Ensembl chr19:5,701,213...5,713,735
JBrowse link
G Sirt2 sirtuin 2 treatment ISO RGD PMID:23522375 RGD:9586035 NCBI chr 7:28,466,192...28,488,086
Ensembl chr 7:28,466,160...28,488,086
JBrowse link
G Slc22a12 solute carrier family 22 (organic anion/cation transporter), member 12 ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr19:6,585,884...6,593,100
Ensembl chr19:6,585,875...6,593,062
JBrowse link
G Slc25a45 solute carrier family 25, member 45 ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr19:5,927,828...5,935,796
Ensembl chr19:5,927,836...5,935,906
JBrowse link
G Slc39a11 solute carrier family 39 (metal ion transporter), member 11 ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr11:113,135,677...113,541,050
Ensembl chr11:113,135,679...113,540,905
JBrowse link
G Slc44a1 solute carrier family 44, member 1 ISO DNA:gene fusion: : RGD PMID:26671581 RGD:11087038 NCBI chr 4:53,440,387...53,622,478
Ensembl chr 4:53,440,413...53,622,478
JBrowse link
G Slc5a5 solute carrier family 5 (sodium iodide symporter), member 5 ISO CTD Direct Evidence: therapeutic CTD PMID:12489024 NCBI chr 8:71,335,529...71,345,429
Ensembl chr 8:71,335,533...71,345,401
JBrowse link
G Slc6a3 solute carrier family 6 (neurotransmitter transporter, dopamine), member 3 ISO protein:decreased expression RGD PMID:14698456 RGD:1625668 NCBI chr13:73,684,270...73,726,791
Ensembl chr13:73,684,866...73,726,791
JBrowse link
G Slc7a5 solute carrier family 7 (cationic amino acid transporter, y+ system), member 5 ameliorates ISO RGD PMID:16496379 RGD:151361115 NCBI chr 8:122,607,885...122,634,425
Ensembl chr 8:122,607,889...122,634,433
JBrowse link
G Snx15 sorting nexin 15 ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr19:6,169,429...6,182,446
Ensembl chr19:6,169,429...6,178,334
JBrowse link
G Sod1 superoxide dismutase 1, soluble ISO CTD Direct Evidence: therapeutic CTD PMID:11861405 NCBI chr16:90,017,650...90,023,221
Ensembl chr16:90,017,642...90,023,217
JBrowse link
G Sox6 SRY (sex determining region Y)-box 6 ISO RGD PMID:15696967 RGD:1580007 NCBI chr 7:115,070,107...115,639,186
Ensembl chr 7:115,070,107...115,638,031
JBrowse link
G Sphk1 sphingosine kinase 1 ISO protein:increased expression:endothelial cell (rat) RGD PMID:17316399 RGD:2311379 NCBI chr11:116,421,662...116,427,502
Ensembl chr11:116,421,751...116,427,501
JBrowse link
G Spindoc spindlin interactor and repressor of chromatin binding ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr19:7,333,828...7,364,491
Ensembl chr19:7,331,443...7,360,359
JBrowse link
G Spp1 secreted phosphoprotein 1 ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:16651633 PMID:16651633 RGD:1581321 NCBI chr 5:104,582,977...104,588,919
Ensembl chr 5:104,582,984...104,588,916
JBrowse link
G Spry3 sprouty RTK signaling antagonist 3 ISO ClinVar Annotator: match by term: Ependymoma ClinVar
G St6gal1 beta galactoside alpha 2,6 sialyltransferase 1 treatment ISO RGD PMID:11559557 RGD:10043143 NCBI chr16:23,043,478...23,179,100
Ensembl chr16:23,043,490...23,179,100
JBrowse link
G Stip1 stress-induced phosphoprotein 1 ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr19:6,998,064...7,017,394
Ensembl chr19:6,998,070...7,017,335
JBrowse link
G Stmn1 stathmin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17440165 NCBI chr 4:134,195,631...134,201,154
Ensembl chr 4:134,195,631...134,201,154
JBrowse link
G Suv39h1 suppressor of variegation 3-9 1 ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr  X:7,927,401...7,940,994
Ensembl chr  X:7,927,410...7,940,999
JBrowse link
G Suz12 SUZ12 polycomb repressive complex 2 subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:25119042 NCBI chr11:79,883,932...79,924,949
Ensembl chr11:79,883,932...79,924,949
JBrowse link
G Syne1 spectrin repeat containing, nuclear envelope 1 ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr10:4,970,192...5,501,013
Ensembl chr10:4,970,917...5,501,482
JBrowse link
G Syvn1 synovial apoptosis inhibitor 1, synoviolin ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr19:6,096,586...6,103,748
Ensembl chr19:6,096,606...6,103,742
JBrowse link
G Tasor transcription activation suppressor ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr14:27,150,759...27,205,512
Ensembl chr14:27,150,791...27,205,512
JBrowse link
G Tert telomerase reverse transcriptase ISO CTD Direct Evidence: marker/mechanism CTD PMID:18021753 PMID:19578367 NCBI chr13:73,775,030...73,797,962
Ensembl chr13:73,775,030...73,797,962
JBrowse link
G Tfrc transferrin receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:16904380 NCBI chr16:32,427,714...32,451,612
Ensembl chr16:32,427,738...32,451,612
JBrowse link
G Tigd3 tigger transposable element derived 3 ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr19:5,941,166...5,944,156
Ensembl chr19:5,941,166...5,944,177
JBrowse link
G Tm7sf2 transmembrane 7 superfamily member 2 ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr19:6,112,851...6,117,880
Ensembl chr19:6,112,851...6,118,403
JBrowse link
G Tnc tenascin C ISO protein:increased expression:brain RGD PMID:16928692 RGD:4889612 NCBI chr 4:63,878,022...63,965,554
Ensembl chr 4:63,878,022...63,965,252
JBrowse link
G Tnf tumor necrosis factor treatment ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:22199285 PMID:11810046 RGD:10450725 NCBI chr17:35,418,343...35,420,983
Ensembl chr17:35,418,357...35,420,983
JBrowse link
G Tnfsf10 tumor necrosis factor (ligand) superfamily, member 10 ISO CTD Direct Evidence: therapeutic CTD PMID:16820965 PMID:19229339 NCBI chr 3:27,371,226...27,393,814
Ensembl chr 3:27,371,177...27,396,576
JBrowse link
G Top2a topoisomerase (DNA) II alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:18402387 NCBI chr11:98,883,773...98,915,037
Ensembl chr11:98,883,769...98,915,015
JBrowse link
G Traf3 TNF receptor-associated factor 3 ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr12:111,132,799...111,233,589
Ensembl chr12:111,132,804...111,233,587
JBrowse link
G Trim29 tripartite motif-containing 29 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30929997 NCBI chr 9:43,222,012...43,247,422
Ensembl chr 9:43,222,145...43,247,412
JBrowse link
G Trmt112 tRNA methyltransferase 11-2 ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr19:6,887,066...6,888,396
Ensembl chr19:6,887,066...6,888,417
JBrowse link
G Trp53 transformation related protein 53 ISO
EXP
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: 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:1200021 PMID:1359493 PMID:1467311 PMID:1565143 PMID:1565144 More... RGD:2290571 NCBI chr11:69,471,174...69,482,699
Ensembl chr11:69,471,185...69,482,699
JBrowse link
G Trpm1 transient receptor potential cation channel, subfamily M, member 1 ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr 7:63,803,583...63,923,630
Ensembl chr 7:63,803,583...63,919,523
JBrowse link
G Trpt1 tRNA phosphotransferase 1 ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr19:6,970,046...6,977,689
Ensembl chr19:6,973,499...6,976,414
JBrowse link
G Trpv4 transient receptor potential cation channel, subfamily V, member 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:33629929 NCBI chr 5:114,760,213...114,796,497
Ensembl chr 5:114,760,213...114,796,482
JBrowse link
G Tsc1 TSC complex subunit 1 ISO ClinVar Annotator: match by term: Astrocytoma ClinVar PMID:25741868 NCBI chr 2:28,531,005...28,581,183
Ensembl chr 2:28,531,240...28,581,179
JBrowse link
G Txnrd2 thioredoxin reductase 2 ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr16:18,245,167...18,297,823
Ensembl chr16:18,245,134...18,297,823
JBrowse link
G Vbp1 von Hippel-Lindau binding protein 1 ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr  X:74,557,903...74,578,552
Ensembl chr  X:74,557,905...74,578,548
JBrowse link
G Vegfb vascular endothelial growth factor B ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr19:6,959,840...6,965,019
Ensembl chr19:6,959,841...6,965,019
JBrowse link
G Vps51 VPS51 GARP complex subunit ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr19:6,117,872...6,127,217
Ensembl chr19:6,117,872...6,127,261
JBrowse link
G Xaf1 XIAP associated factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28122345 NCBI chr11:72,192,229...72,204,560
Ensembl chr11:72,192,455...72,204,559
JBrowse link
G Xbp1 X-box binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21138464 NCBI chr11:5,470,641...5,475,993
Ensembl chr11:5,470,659...5,475,893
JBrowse link
G Xrcc1 X-ray repair complementing defective repair in Chinese hamster cells 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 7:24,246,124...24,272,863
Ensembl chr 7:24,245,714...24,272,865
JBrowse link
G Xrcc3 X-ray repair complementing defective repair in Chinese hamster cells 3 susceptibility ISO DNA:SNP:cd: p.T241M (rs861539) (Human) RGD PMID:23534771 RGD:401850601 NCBI chr12:111,769,626...111,780,326
Ensembl chr12:111,769,626...111,780,307
JBrowse link
G Yeats4 YEATS domain containing 4 ISO RGD PMID:11521196 RGD:1598696 NCBI chr10:117,051,046...117,060,412
Ensembl chr10:117,051,126...117,060,412
JBrowse link
G Zfpl1 zinc finger like protein 1 ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr19:6,130,792...6,134,961
Ensembl chr19:6,130,792...6,134,986
JBrowse link
G Zfta zinc finger translocation associated ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr19:7,394,981...7,403,273
Ensembl chr19:7,394,990...7,403,269
JBrowse link
G Znhit2 zinc finger, HIT domain containing 2 ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr19:6,111,237...6,112,498
Ensembl chr19:6,111,222...6,112,502
JBrowse link
G Znrd2 zinc ribbon domain containing 2 ISO ClinVar Annotator: match by term: Ependymoma ClinVar NCBI chr19:5,780,334...5,781,760
Ensembl chr19:5,780,331...5,781,760
Ensembl chr19:5,780,331...5,781,760
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 Pot1a protection of telomeres 1A ISO ClinVar Annotator: match by term: High-grade astrocytoma with piloid features ClinVar PMID:25741868 NCBI chr 6:25,743,939...25,809,280
Ensembl chr 6:25,743,736...25,809,245
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 chr 5:67,251,751...67,256,399
Ensembl chr 5:67,251,742...67,256,644
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
IAGP
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 chr 5:33,879,068...33,894,412
Ensembl chr 5:33,879,018...33,894,412
JBrowse link
IDH-mutant anaplastic astrocytoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 4930550C14Rik RIKEN cDNA 4930550C14 gene ISO ClinVar Annotator: match by term: Astrocytoma IDH-mutant ClinVar PMID:19781682 PMID:25503501 PMID:25741868 PMID:28492532 PMID:28779002 NCBI chr 9:53,313,814...53,345,726
Ensembl chr 9:53,313,625...53,345,702
JBrowse link
G Atm ataxia telangiectasia mutated ISO ClinVar Annotator: match by term: Astrocytoma IDH-mutant ClinVar PMID:19781682 PMID:25503501 PMID:25741868 PMID:28492532 PMID:28779002 NCBI chr 9:53,348,422...53,448,125
Ensembl chr 9:53,350,449...53,448,040
JBrowse link
G Epcam epithelial cell adhesion molecule ISO ClinVar Annotator: match by term: Astrocytoma IDH-mutant ClinVar PMID:25741868 NCBI chr17:87,943,407...87,958,555
Ensembl chr17:87,943,407...87,958,557
JBrowse link
G Nf1 neurofibromin 1 ISO ClinVar Annotator: match by term: Astrocytoma IDH-mutant ClinVar PMID:25741868 PMID:28492532 NCBI chr11:79,223,541...79,472,435
Ensembl chr11:79,230,519...79,472,438
JBrowse link
G Rad54l RAD54 like (S. cerevisiae) ISO ClinVar Annotator: match by term: Astrocytoma IDH-mutant ClinVar PMID:25741868 NCBI chr 4:115,951,458...115,980,875
Ensembl chr 4:115,951,461...115,980,887
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
IAGP
CTD Direct Evidence: marker/mechanism CTD
MouseDO
PMID:23666238 NCBI chr10:14,278,327...14,421,467
Ensembl chr10:14,278,327...14,421,403
JBrowse link
G Celsr2 cadherin, EGF LAG seven-pass G-type receptor 2 ISO ClinVar Annotator: match by term: Idiopathic scoliosis ClinVar PMID:28492532 PMID:29240829 NCBI chr 3:108,298,164...108,323,416
Ensembl chr 3:108,298,167...108,323,383
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 4:8,690,345...8,868,449
Ensembl chr 4:8,690,406...8,867,659
JBrowse link
G Greb1l growth regulation by estrogen in breast cancer-like ISO ClinVar Annotator: match by term: Scoliosis, isolated, susceptibility to, 1 ClinVar PMID:25741868 NCBI chr18:10,324,933...10,562,945
Ensembl chr18:10,325,177...10,562,940
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 7:79,347,846...79,365,520
Ensembl chr 7:79,347,846...79,365,468
JBrowse link
G Mapk7 mitogen-activated protein kinase 7 ISO ClinVar Annotator: match by term: Scoliosis, isolated, susceptibility to, 1 ClinVar PMID:28714182 NCBI chr11:61,379,638...61,385,101
Ensembl chr11:61,379,638...61,385,232
JBrowse link
G Mbtps1 membrane-bound transcription factor peptidase, site 1 IAGP MouseDO NCBI chr 8:120,234,890...120,285,603
Ensembl chr 8:120,234,895...120,285,474
JBrowse link
G Prmt5 protein arginine N-methyltransferase 5 IAGP MouseDO NCBI chr14:54,744,639...54,754,927
Ensembl chr14:54,744,644...54,754,982
JBrowse link
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 IAGP MouseDO NCBI chr 5:121,268,596...121,329,460
Ensembl chr 5:121,268,596...121,329,460
JBrowse link
G Runx3 runt related transcription factor 3 IAGP MouseDO NCBI chr 4:134,847,956...134,905,301
Ensembl chr 4:134,847,963...134,905,301
JBrowse link
infant-type hemispheric glioma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Brca1 breast cancer 1, early onset ISO ClinVar Annotator: match by term: Infant-type hemispheric glioma ClinVar PMID:9609997 PMID:19543972 PMID:21990134 PMID:21990165 PMID:24489791 More... NCBI chr11:101,379,587...101,442,808
Ensembl chr11:101,379,590...101,442,781
JBrowse link
Intervertebral Disc Displacement term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Akt1 thymoma viral proto-oncogene 1 disease_progression ISO RGD PMID:21590431 RGD:5509092 NCBI chr12:112,620,260...112,641,266
Ensembl chr12:112,620,255...112,641,318
JBrowse link
G Apoa4 apolipoprotein A-IV ISO protein:increased expression:cerebrospinal fluid RGD PMID:16372267 RGD:5685665 NCBI chr 9:46,152,142...46,154,756
Ensembl chr 9:46,151,994...46,154,757
JBrowse link
G Bdnf brain derived neurotrophic factor ISO protein:increased expression:dorsal root ganglion: RGD PMID:14615047 RGD:8657329 NCBI chr 2:109,505,045...109,557,388
Ensembl chr 2:109,505,045...109,557,352
JBrowse link
G Col11a1 collagen, type XI, alpha 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17999364 NCBI chr 3:113,823,933...114,014,405
Ensembl chr 3:113,824,189...114,014,367
JBrowse link
G Ctsl cathepsin L ISO protein:increased expression:annulus fibrosus (rat) RGD PMID:15758467 RGD:2315595 NCBI chr13:64,509,704...64,518,586
Ensembl chr13:64,507,151...64,518,704
JBrowse link
G Cx3cl1 C-X3-C motif chemokine ligand 1 ISO mRNA, protein:increased expression:spinal cord RGD PMID:21224760 RGD:4891907 NCBI chr 8:95,498,808...95,509,055
Ensembl chr 8:95,498,637...95,509,055
JBrowse link
G Cx3cr1 C-X3-C motif chemokine receptor 1 ISO protein:increased expression:spinal cord RGD PMID:21224760 RGD:4891907 NCBI chr 9:119,877,749...119,897,362
Ensembl chr 9:119,877,749...119,898,945
JBrowse link
G Gc vitamin D binding protein ISO protein:increased expression:cerebrospinal fluid RGD PMID:16868893 RGD:5509883 NCBI chr 5:89,565,370...89,605,757
Ensembl chr 5:89,565,381...89,605,757
JBrowse link
G Htr2a 5-hydroxytryptamine (serotonin) receptor 2A treatment ISO RGD PMID:25584948 RGD:401938625 NCBI chr14:74,878,314...74,944,299
Ensembl chr14:74,878,280...74,946,934
JBrowse link
G Igf1 insulin-like growth factor 1 ISO RGD PMID:21037532 RGD:8549460 NCBI chr10:87,694,127...87,772,909
Ensembl chr10:87,694,127...87,772,904
JBrowse link
G Il1rl1 interleukin 1 receptor-like 1 ISO protein:increased expression:spinal cord: RGD PMID:29329586 RGD:40400909 NCBI chr 1:40,444,105...40,504,575
Ensembl chr 1:40,468,730...40,504,575
JBrowse link
G Il33 interleukin 33 ISO protein:increased expression:spinal cord: RGD PMID:29329586 RGD:40400909 NCBI chr19:29,902,513...29,938,118
Ensembl chr19:29,902,514...29,938,118
JBrowse link
G Kmt2d lysine (K)-specific methyltransferase 2D severity ISO RGD PMID:32599142 RGD:155598599 NCBI chr15:98,729,550...98,771,958
Ensembl chr15:98,729,550...98,769,085
JBrowse link
G Mir223 microRNA 223 disease_progression ISO RGD PMID:28460630 RGD:25823200 NCBI chr  X:95,286,423...95,286,532
Ensembl chr  X:95,286,423...95,286,532
JBrowse link
G Tnf tumor necrosis factor ISO RGD PMID:24826482 RGD:10450584 NCBI chr17:35,418,343...35,420,983
Ensembl chr17:35,418,357...35,420,983
JBrowse link
G Tnfrsf1b tumor necrosis factor receptor superfamily, member 1b ISO human protein in rat model RGD PMID:21057386 RGD:5131270 NCBI chr 4:144,938,938...144,973,453
Ensembl chr 4:144,940,033...144,973,440
JBrowse link
G Vdr vitamin D (1,25-dihydroxyvitamin D3) receptor ISO GAD PMID:15118671 RGD:1331525 NCBI chr15:97,752,308...97,806,177
Ensembl chr15:97,752,306...97,808,511
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 chr 5:76,285,296...76,303,350
Ensembl chr 5:76,288,118...76,303,351
JBrowse link
KBG syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 1700018B08Rik RIKEN cDNA 1700018B08 gene ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:31690835 NCBI chr 8:122,257,515...122,271,077
Ensembl chr 8:122,257,519...122,271,059
JBrowse link
G Acsf3 acyl-CoA synthetase family member 3 ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:28492532 PMID:31602316 PMID:31690835 NCBI chr 8:123,502,209...123,544,626
Ensembl chr 8:123,502,225...123,544,619
JBrowse link
G Ankrd11 ankyrin repeat domain 11 ISO
IAGP
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
CTD Direct Evidence: marker/mechanism
DNA:deletions, SNPs:CDS:multiple (human)
DNA:mutations:CDS:multiple (human)
OMIM:148050
OMIM
ClinVar
CTD
MouseDO
RGD
PMID:9536098 PMID:15378538 PMID:15523620 PMID:16199547 PMID:17576681 More... RGD:11068938, RGD:11086621 NCBI chr 8:123,610,060...123,769,023
Ensembl chr 8:123,610,561...123,769,016
JBrowse link
G Aprt adenine phosphoribosyl transferase ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:28492532 PMID:31690835 NCBI chr 8:123,301,376...123,303,646
Ensembl chr 8:123,301,374...123,303,648
JBrowse link
G Banp BTG3 associated nuclear protein ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:31690835 NCBI chr 8:122,674,711...122,755,999
Ensembl chr 8:122,676,489...122,755,997
JBrowse link
G Car5a carbonic anhydrase 5a, mitochondrial ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:31690835 NCBI chr 8:122,642,874...122,671,651
Ensembl chr 8:122,642,865...122,671,643
JBrowse link
G Cbfa2t3 CBFA2/RUNX1 translocation partner 3 ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:28492532 PMID:31690835 NCBI chr 8:123,351,875...123,426,069
Ensembl chr 8:123,351,880...123,425,848
JBrowse link
G Cdh15 cadherin 15 ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:28492532 PMID:31602316 PMID:31690835 NCBI chr 8:123,575,113...123,594,136
Ensembl chr 8:123,574,705...123,594,136
JBrowse link
G Cdk10 cyclin dependent kinase 10 ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:28492532 PMID:31602316 NCBI chr 8:123,951,580...123,958,995
Ensembl chr 8:123,951,581...123,958,989
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 chr 8:123,294,754...123,299,869
Ensembl chr 8:123,294,754...123,300,293
JBrowse link
G Chmp1a charged multivesicular body protein 1A ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:28492532 PMID:31602316 NCBI chr 8:123,931,000...123,939,527
Ensembl chr 8:123,931,003...123,939,502
JBrowse link
G Cpne7 copine VII ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:28492532 PMID:31602316 NCBI chr 8:123,844,054...123,861,924
Ensembl chr 8:123,844,113...123,861,921
JBrowse link
G Ctu2 cytosolic thiouridylase subunit 2 ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:31690835 NCBI chr 8:123,202,882...123,209,831
Ensembl chr 8:123,202,882...123,210,877
JBrowse link
G Cyba cytochrome b-245, alpha polypeptide ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:31690835 NCBI chr 8:123,151,510...123,159,679
Ensembl chr 8:123,151,515...123,159,669
JBrowse link
G Dpep1 dipeptidase 1 ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:28492532 PMID:31602316 NCBI chr 8:123,913,069...123,928,551
Ensembl chr 8:123,912,981...123,928,551
JBrowse link
G Fanca Fanconi anemia, complementation group A ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:28492532 PMID:31602316 NCBI chr 8:123,993,033...124,045,390
Ensembl chr 8:123,995,039...124,045,315
JBrowse link
G Fbxo31 F-box protein 31 ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:31690835 NCBI chr 8:122,276,182...122,305,607
Ensembl chr 8:122,276,179...122,305,545
JBrowse link
G Galns galactosamine (N-acetyl)-6-sulfatase ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:28492532 PMID:31690835 NCBI chr 8:123,304,976...123,338,226
Ensembl chr 8:123,304,981...123,338,202
JBrowse link
G Il17c interleukin 17C ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:31690835 NCBI chr 8:123,147,912...123,150,820
Ensembl chr 8:123,148,759...123,150,378
JBrowse link
G Jph3 junctophilin 3 ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:31690835 NCBI chr 8:122,457,298...122,517,822
Ensembl chr 8:122,456,362...122,521,015
JBrowse link
G Kat6b K(lysine) acetyltransferase 6B ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:25741868 NCBI chr14:21,549,284...21,722,546
Ensembl chr14:21,531,502...21,722,546
JBrowse link
G Klhdc4 kelch domain containing 4 ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:31690835 NCBI chr 8:122,523,047...122,556,322
Ensembl chr 8:122,523,052...122,556,308
JBrowse link
G Map1lc3b microtubule-associated protein 1 light chain 3 beta ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:31690835 NCBI chr 8:122,317,177...122,325,499
Ensembl chr 8:122,317,100...122,325,499
JBrowse link
G Mvd mevalonate (diphospho) decarboxylase ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:31690835 NCBI chr 8:123,160,335...123,170,161
Ensembl chr 8:123,160,340...123,170,161
JBrowse link
G Pabpn1l poly(A)binding protein nuclear 1-like ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:28492532 PMID:31690835 NCBI chr 8:123,346,210...123,349,474
Ensembl chr 8:123,346,210...123,349,478
JBrowse link
G Piezo1 piezo-type mechanosensitive ion channel component 1 ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:31690835 NCBI chr 8:123,208,437...123,278,068
Ensembl chr 8:123,208,437...123,278,068
JBrowse link
G Rnf166 ring finger protein 166 ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:31690835 NCBI chr 8:123,192,884...123,202,813
Ensembl chr 8:123,192,886...123,202,803
JBrowse link
G Rpl13 ribosomal protein L13 ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:28492532 PMID:31602316 NCBI chr 8:123,829,089...123,831,983
Ensembl chr 8:123,829,089...123,831,983
JBrowse link
G Setd5 SET domain containing 5 ISO ClinVar Annotator: match by term: KBG syndrome ClinVar NCBI chr 6:113,054,326...113,130,393
Ensembl chr 6:113,054,326...113,130,396
JBrowse link
G Slc7a5 solute carrier family 7 (cationic amino acid transporter, y+ system), member 5 ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:31690835 NCBI chr 8:122,607,885...122,634,425
Ensembl chr 8:122,607,889...122,634,433
JBrowse link
G Snai3 snail family zinc finger 3 ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:31690835 NCBI chr 8:123,180,943...123,187,546
Ensembl chr 8:123,180,947...123,187,472
JBrowse link
G Spata2l spermatogenesis associated 2-like ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:28492532 PMID:31602316 NCBI chr 8:123,958,994...123,962,997
Ensembl chr 8:123,956,540...123,962,972
JBrowse link
G Spata33 spermatogenesis associated 33 ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:28492532 PMID:31602316 NCBI chr 8:123,939,572...123,948,784
Ensembl chr 8:123,939,571...123,948,785
JBrowse link
G Tbx1 T-box 1 ISO ClinVar Annotator: match by term: KBG syndrome ClinVar NCBI chr16:18,399,729...18,409,412
Ensembl chr16:18,399,729...18,409,421
JBrowse link
G Trappc2l trafficking protein particle complex 2L ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:21782149 PMID:25741868 PMID:26467025 PMID:28492532 PMID:31690835 NCBI chr 8:123,338,365...123,342,330
Ensembl chr 8:123,338,379...123,343,399
JBrowse link
G Vps9d1 VPS9 domain containing 1 ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:28492532 PMID:31602316 NCBI chr 8:123,969,095...123,980,961
Ensembl chr 8:123,969,095...123,981,087
JBrowse link
G Zc3h18 zinc finger CCCH-type containing 18 ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:31690835 NCBI chr 8:123,103,298...123,144,104
Ensembl chr 8:123,103,348...123,144,099
JBrowse link
G Zcchc14 zinc finger, CCHC domain containing 14 ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:31690835 NCBI chr 8:122,325,442...122,379,662
Ensembl chr 8:122,325,442...122,379,640
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 9:20,338,457...20,371,465
Ensembl chr 9:20,339,745...20,371,458
JBrowse link
G Zfp276 zinc finger protein (C2H2 type) 276 ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:28492532 PMID:31602316 NCBI chr 8:123,980,934...123,997,290
Ensembl chr 8:123,980,934...123,996,484
JBrowse link
G Zfp469 zinc finger protein 469 ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:31690835 NCBI chr 8:122,770,009...122,999,389
Ensembl chr 8:122,985,359...122,999,389
JBrowse link
G Zfpm1 zinc finger protein, multitype 1 ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:31690835 NCBI chr 8:123,008,595...123,064,601
Ensembl chr 8:123,008,880...123,063,990
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 4:9,844,372...9,862,345
Ensembl chr 4:9,844,372...9,862,345
JBrowse link
G Meox1 mesenchyme homeobox 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr11:101,768,336...101,785,309
Ensembl chr11:101,768,336...101,785,200
JBrowse link
G Myo18b myosin XVIIIb ISO ClinVar Annotator: match by term: Klippel-Feil syndrome ClinVar PMID:25741868 NCBI chr 5:112,836,742...113,044,311
Ensembl chr 5:112,836,742...113,044,228
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 4:10,874,249...10,899,425
Ensembl chr 4:10,874,498...10,899,425
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 4:9,844,372...9,862,345
Ensembl chr 4:9,844,372...9,862,345
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 chr15:91,556,994...91,700,327
Ensembl chr15:91,557,378...91,700,323
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 chr13:67,053,520...67,081,148
Ensembl chr13:67,055,032...67,081,152
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 4:11,048,991...11,076,393
Ensembl chr 4:11,051,045...11,076,205
JBrowse link
G Plekhf2 pleckstrin homology domain containing, family F (with FYVE domain) member 2 ISO ClinVar Annotator: match by term: Klippel-Feil syndrome 1, autosomal dominant ClinVar PMID:24442880 PMID:28492532 NCBI chr 4:10,988,662...11,007,619
Ensembl chr 4:10,988,662...11,007,927
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 chr13:67,080,894...67,146,465
Ensembl chr13:67,080,894...67,146,465
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 chr13:67,048,640...67,053,414
Ensembl chr13:67,048,681...67,053,442
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 NCBI chr11:101,768,336...101,785,309
Ensembl chr11:101,768,336...101,785,200
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 9:86,897,590...86,902,494
Ensembl chr 9:86,897,590...86,901,970
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 7:119,289,249...119,313,789
Ensembl chr 7:119,289,249...119,313,788
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 6:122,530,768...122,541,139
Ensembl chr 6:122,530,760...122,541,139
JBrowse link
G Apobec1 apolipoprotein B mRNA editing enzyme, catalytic polypeptide 1 ISO ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant ClinVar PMID:28492532 NCBI chr 6:122,554,755...122,580,068
Ensembl chr 6:122,554,751...122,579,403
JBrowse link
G Atn1 atrophin 1 ISO ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant ClinVar PMID:28492532 NCBI chr 6:124,719,507...124,733,450
Ensembl chr 6:124,719,507...124,733,487
Ensembl chr 6:124,719,507...124,733,487
JBrowse link
G C1rb complement component 1, r subcomponent B ISO ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant ClinVar PMID:28492532 NCBI chr 6:124,547,389...124,558,003
Ensembl chr 6:124,547,253...124,558,130
JBrowse link
G C1rl complement component 1, r subcomponent-like ISO ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant ClinVar PMID:28492532 NCBI chr 6:124,470,072...124,487,602
Ensembl chr 6:124,470,072...124,487,602
JBrowse link
G C1s1 complement component 1, s subcomponent 1 ISO ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant ClinVar PMID:28492532 NCBI chr 6:124,507,303...124,519,340
Ensembl chr 6:124,507,304...124,519,318
JBrowse link
G C3ar1 complement component 3a receptor 1 ISO ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant ClinVar PMID:28492532 NCBI chr 6:122,824,099...122,833,116
Ensembl chr 6:122,824,097...122,833,120
JBrowse link
G Cd163 CD163 antigen ISO ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant ClinVar PMID:28492532 NCBI chr 6:124,281,596...124,307,488
Ensembl chr 6:124,281,615...124,307,486
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 6:124,806,533...124,810,664
Ensembl chr 6:124,806,510...124,810,664
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 6:122,898,807...122,911,578
Ensembl chr 6:122,898,807...122,911,578
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 6:122,929,474...122,946,837
Ensembl chr 6:122,929,474...122,946,834
JBrowse link
G Clec4b1 C-type lectin domain family 4, member b1 ISO ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant ClinVar PMID:28492532 NCBI chr 6:123,026,921...123,048,514
Ensembl chr 6:123,026,921...123,048,514
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 6:123,239,066...123,252,227
Ensembl chr 6:123,239,070...123,252,224
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 6:123,258,748...123,266,830
Ensembl chr 6:123,258,748...123,266,829
JBrowse link
G Clec4n C-type lectin domain family 4, member n ISO ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant ClinVar PMID:28492532 NCBI chr 6:123,206,802...123,223,983
Ensembl chr 6:123,206,802...123,223,980
JBrowse link
G Clstn3 calsyntenin 3 ISO ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant ClinVar PMID:28492532 NCBI chr 6:124,407,715...124,441,743
Ensembl chr 6:124,407,540...124,441,753
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 6:122,603,383...122,607,230
Ensembl chr 6:122,603,369...122,607,231
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 6:124,681,344...124,689,118
Ensembl chr 6:124,681,048...124,689,141
JBrowse link
G Eno2 enolase 2, gamma neuronal ISO ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant ClinVar PMID:28492532 NCBI chr 6:124,737,018...124,746,489
Ensembl chr 6:124,737,016...124,746,636
JBrowse link
G Fam90a1b family with sequence similarity 90, member A1B ISO ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant ClinVar PMID:28492532 NCBI chr  X:93,383,509...93,410,513
Ensembl chr  X:93,398,659...93,410,383
Ensembl chr  X:93,398,659...93,410,383
JBrowse link
G Foxj2 forkhead box J2 ISO ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant ClinVar PMID:28492532 NCBI chr 6:122,797,143...122,822,325
Ensembl chr 6:122,796,873...122,822,325
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 6:122,582,362...122,587,046
Ensembl chr 6:122,582,362...122,587,046
JBrowse link
G Gnb3 guanine nucleotide binding protein (G protein), beta 3 ISO ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant ClinVar PMID:28492532 NCBI chr 6:124,811,203...124,817,238
Ensembl chr 6:124,811,203...124,817,238
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 6:124,716,146...124,718,032
Ensembl chr 6:124,716,146...124,718,337
JBrowse link
G Lpcat3 lysophosphatidylcholine acyltransferase 3 ISO ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant ClinVar PMID:28492532 NCBI chr 6:124,639,887...124,681,142
Ensembl chr 6:124,639,990...124,681,381
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 6:124,746,832...124,757,411
Ensembl chr 6:124,746,826...124,756,690
JBrowse link
G Mfap5 microfibrillar associated protein 5 ISO ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant ClinVar PMID:28492532 NCBI chr 6:122,490,543...122,506,249
Ensembl chr 6:122,482,804...122,506,249
JBrowse link
G Mir141 microRNA 141 ISO ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant ClinVar PMID:28492532 NCBI chr 6:124,694,877...124,694,948
Ensembl chr 6:124,694,877...124,694,948
JBrowse link
G Mir200c microRNA 200c ISO ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant ClinVar PMID:28492532 NCBI chr 6:124,695,285...124,695,353
Ensembl chr 6:124,695,285...124,695,353
JBrowse link
G Nanog Nanog homeobox ISO ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant ClinVar PMID:28492532 NCBI chr 6:122,684,448...122,691,592
Ensembl chr 6:122,684,448...122,691,592
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 6:122,851,516...122,865,902
Ensembl chr 6:122,851,433...122,865,900
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 6:124,818,052...124,834,680
Ensembl chr 6:124,818,052...124,834,715
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 6:124,373,774...124,392,878
Ensembl chr 6:124,373,775...124,392,026
JBrowse link
G Phb2 prohibitin 2 ISO ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant ClinVar PMID:28492532 NCBI chr 6:124,689,252...124,693,908
Ensembl chr 6:124,689,299...124,693,913
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 6:124,697,670...124,715,672
Ensembl chr 6:124,697,670...124,715,677
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 6:122,424,255...122,464,021
Ensembl chr 6:122,424,255...122,475,720
JBrowse link
G Slc2a3 solute carrier family 2 (facilitated glucose transporter), member 3 ISO ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant ClinVar PMID:28492532 NCBI chr 6:122,704,783...122,779,149
Ensembl chr 6:122,704,768...122,778,599
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 6:124,785,640...124,787,582
Ensembl chr 6:124,785,624...124,787,582
JBrowse link
G Tpi1 triosephosphate isomerase 1 ISO ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant ClinVar PMID:28492532 NCBI chr 6:124,787,549...124,791,121
Ensembl chr 6:124,787,549...124,791,259
JBrowse link
G Usp5 ubiquitin specific peptidase 5 (isopeptidase T) ISO ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant ClinVar PMID:28492532 NCBI chr 6:124,791,982...124,806,404
Ensembl chr 6:124,791,982...124,806,447
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 chr 5:112,836,742...113,044,311
Ensembl chr 5:112,836,742...113,044,228
JBrowse link
Kyphoscoliosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hoxa11 homeobox A11 ISO mRNA:decreased expression:verterbra RGD PMID:18327665 RGD:11354896 NCBI chr 6:52,219,086...52,222,784
Ensembl chr 6:52,219,086...52,222,790
JBrowse link
G Hoxc10 homeobox C10 ISO mRNA:decreased expression:verterbra RGD PMID:18327665 RGD:11354896 NCBI chr15:102,875,231...102,880,333
Ensembl chr15:102,875,231...102,880,328
JBrowse link
G Hoxd10 homeobox D10 ISO mRNA:decreased expression:verterbra RGD PMID:18327665 RGD:11354896 NCBI chr 2:74,514,617...74,525,450
Ensembl chr 2:74,522,268...74,525,449
JBrowse link
G Hoxd11 homeobox D11 ISO mRNA:decreased expression:verterbra RGD PMID:18327665 RGD:11354896 NCBI chr 2:74,509,902...74,517,360
Ensembl chr 2:74,509,901...74,517,360
JBrowse link
kyphosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Elp1 elongator complex protein 1 ISO RGD PMID:11097445 RGD:5129159 NCBI chr 4:56,746,547...56,802,565
Ensembl chr 4:56,749,680...56,802,331
JBrowse link
G Fkbp10 FK506 binding protein 10 ISO ClinVar Annotator: match by term: Kyphosis ClinVar PMID:20362275 PMID:20839288 PMID:21567934 PMID:22689593 PMID:22949511 More... NCBI chr11:100,306,520...100,315,666
Ensembl chr11:100,306,523...100,315,650
JBrowse link
G Ltbp3 latent transforming growth factor beta binding protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11790802 NCBI chr19:5,790,928...5,808,564
Ensembl chr19:5,790,932...5,808,560
JBrowse link
G Parp1 poly (ADP-ribose) polymerase family, member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20561897 NCBI chr 1:180,396,456...180,428,564
Ensembl chr 1:180,396,489...180,428,819
JBrowse link
G Plod1 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15666309 NCBI chr 4:147,994,210...148,021,233
Ensembl chr 4:147,994,210...148,021,224
JBrowse link
G Slc26a2 solute carrier family 26 (sulfate transporter), member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18925670 NCBI chr18:61,329,926...61,344,668
Ensembl chr18:61,325,991...61,344,684
JBrowse link
G Slc39a13 solute carrier family 39 (metal ion transporter), member 13 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18985159 NCBI chr 2:90,892,136...90,900,754
Ensembl chr 2:90,892,136...90,900,762
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 2:29,825,421...29,849,444
Ensembl chr 2:29,825,438...29,850,383
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 2:29,825,421...29,849,444
Ensembl chr 2:29,825,438...29,850,383
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 (never in mitosis gene a)-related expressed kinase 9 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Lethal congenital contracture syndrome 10
OMIM
CTD
ClinVar
PMID:25741868 PMID:26908619 NCBI chr12:85,346,288...85,386,136
Ensembl chr12:85,346,288...85,386,136
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: Lethal congenital contracture syndrome 11
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:25741868 PMID:27616481 PMID:28726266 PMID:31680123 PMID:31680349 More... NCBI chr 9:54,193,770...54,249,061
Ensembl chr 9:54,193,770...54,249,070
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 chr10:128,403,392...128,425,504
Ensembl chr10:128,403,392...128,425,521
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 chr10:81,128,669...81,155,808
Ensembl chr10:81,128,797...81,155,807
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 C, slow-type ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Lethal congenital contracture syndrome 4
OMIM
CTD
ClinVar
PMID:18414213 PMID:22610851 PMID:25741868 NCBI chr10:88,354,141...88,441,051
Ensembl chr10:88,354,141...88,441,014
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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Lethal congenital contracture syndrome 5
OMIM
CTD
ClinVar
PMID:23092955 PMID:25741868 NCBI chr 9:21,336,167...21,419,055
Ensembl chr 9:21,336,204...21,419,055
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 chr12:112,645,042...112,649,181
Ensembl chr12:112,645,262...112,649,181
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-like 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 chr11:101,065,429...101,081,550
Ensembl chr11:101,061,349...101,081,550
JBrowse link
G Dicer1 dicer 1, ribonuclease type III ISO ClinVar Annotator: match by term: Lethal congenital contracture syndrome 7 ClinVar PMID:19556464 PMID:25741868 PMID:26925222 NCBI chr12:104,654,001...104,718,331
Ensembl chr12:104,654,001...104,718,211
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 ClinVar Annotator: match by term: Lethal congenital contracture syndrome 8
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:23806086 PMID:24088041 PMID:24319099 PMID:25741868 PMID:26257172 More... NCBI chr15:98,484,982...98,508,119
Ensembl chr15:98,487,854...98,507,957
JBrowse link
G Spmip11 sperm microtubule inner protein 11 ISO ClinVar Annotator: match by term: Lethal congenital contracture syndrome 8 ClinVar PMID:24319099 NCBI chr15:98,468,885...98,487,469
Ensembl chr15:98,468,885...98,487,461
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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Lethal congenital contracture syndrome 9
OMIM
CTD
ClinVar
PMID:25741868 PMID:26004201 PMID:26752647 PMID:28492532 NCBI chr10:14,278,327...14,421,467
Ensembl chr10:14,278,327...14,421,403
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 chr 5:32,893,645...32,943,008
Ensembl chr 5:32,893,645...32,942,990
JBrowse link
Lordosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acan aggrecan IMP RGD PMID:9192671 RGD:1300269 NCBI chr 7:78,702,974...78,764,847
Ensembl chr 7:78,703,231...78,764,847
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 2:145,613,647...145,729,536
Ensembl chr 2:145,517,135...145,729,536
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 2:58,336,450...58,456,840
Ensembl chr 2:58,278,656...58,457,169
JBrowse link
G Adgrb1 adhesion G protein-coupled receptor B1 severity ISO RGD PMID:23761815 RGD:13831356 NCBI chr15:74,388,045...74,461,314
Ensembl chr15:74,388,044...74,461,314
JBrowse link
G Akt1 thymoma viral proto-oncogene 1 disease_progression ISO RGD PMID:19240976 RGD:5509079 NCBI chr12:112,620,260...112,641,266
Ensembl chr12:112,620,255...112,641,318
JBrowse link
G Akt2 thymoma viral proto-oncogene 2 severity ISO RGD PMID:20167810 RGD:13674163 NCBI chr 7:27,290,977...27,340,251
Ensembl chr 7:27,290,977...27,340,251
JBrowse link
G Akt3 thymoma viral proto-oncogene 3 severity ISO RGD PMID:20167810 RGD:13674163 NCBI chr 1:176,847,642...177,091,688
Ensembl chr 1:176,847,639...177,085,769
JBrowse link
G Anxa1 annexin A1 ISO associated with Tuberous Sclerosis;mRNA:increased expression:brain RGD PMID:20133820 RGD:7421564 NCBI chr19:20,350,798...20,368,035
Ensembl chr19:20,350,792...20,368,308
JBrowse link
G Ar androgen receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:24680642 NCBI chr  X:97,192,363...97,366,824
Ensembl chr  X:97,192,375...97,366,821
JBrowse link
G Atrx ATRX, chromatin remodeler disease_progression
severity
ISO RGD PMID:24810474 PMID:23765250 RGD:9586026, RGD:11040585 NCBI chr  X:104,841,221...104,972,978
Ensembl chr  X:104,841,221...104,973,009
JBrowse link
G Braf Braf transforming gene 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 6:39,580,171...39,702,592
Ensembl chr 6:39,580,171...39,702,397
JBrowse link
G Brd7 bromodomain containing 7 severity ISO protein:increased expression:brain: RGD PMID:24404152 RGD:9586441 NCBI chr 8:89,056,522...89,089,249
Ensembl chr 8:89,057,667...89,088,822
JBrowse link
G Bst2 bone marrow stromal cell antigen 2 severity ISO RGD PMID:21565182 RGD:14398497 NCBI chr 8:71,986,899...71,990,116
Ensembl chr 8:71,986,899...71,990,100
JBrowse link
G Cadm2 cell adhesion molecule 2 severity ISO protein:decreased expression:brain RGD PMID:30816549 RGD:19165125 NCBI chr16:66,452,302...67,417,825
Ensembl chr16:66,452,307...67,417,796
JBrowse link
G Camk2g calcium/calmodulin-dependent protein kinase II gamma disease_progression ISO RGD PMID:12937144 RGD:13702480 NCBI chr14:20,784,943...20,844,225
Ensembl chr14:20,784,943...20,844,156
JBrowse link
G Ccnd1 cyclin D1 severity ISO RGD PMID:10419598 RGD:13681931 NCBI chr 7:144,483,668...144,493,568
Ensembl chr 7:144,483,668...144,493,662
JBrowse link
G D630045J12Rik RIKEN cDNA D630045J12 gene ISO CTD Direct Evidence: marker/mechanism CTD PMID:23817572 NCBI chr 6:38,100,109...38,231,074
Ensembl chr 6:38,100,109...38,230,944
JBrowse link
G Dll3 delta like canonical Notch ligand 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21127729 NCBI chr 7:27,992,980...28,001,210
Ensembl chr 7:27,992,978...28,001,663
JBrowse link
G Dok2 docking protein 2 disease_progression ISO mRNA,protein:increased expression, increased phosphorylation:astrocytoma (human) RGD PMID:27975172 RGD:152177494 NCBI chr14:71,003,336...71,015,934
Ensembl chr14:71,003,476...71,015,935
JBrowse link
G Esr1 estrogen receptor 1 (alpha) ISO CTD Direct Evidence: marker/mechanism CTD PMID:24680642 NCBI chr10:4,561,989...4,955,633
Ensembl chr10:4,561,593...4,955,614
JBrowse link
G Esr2 estrogen receptor 2 (beta) ISO CTD Direct Evidence: marker/mechanism CTD PMID:24680642 NCBI chr12:76,167,193...76,224,033
Ensembl chr12:76,167,193...76,224,033
JBrowse link
G Fgfr1 fibroblast growth factor receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23817572 NCBI chr 8:26,008,808...26,067,819
Ensembl chr 8:26,003,670...26,065,734
JBrowse link
G Fubp1 far upstream element (FUSE) binding protein 1 ISO mRNA:increased expression:brain (human) RGD PMID:32481602 RGD:151361197 NCBI chr 3:151,916,059...151,942,467
Ensembl chr 3:151,916,059...151,942,463
JBrowse link
G G3bp1 G3BP stress granule assembly factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27106762 NCBI chr11:55,360,521...55,391,722
Ensembl chr11:55,360,511...55,395,664
JBrowse link
G Gstm1 glutathione S-transferase, mu 1 severity ISO DNA:deletion: : RGD PMID:12241105 RGD:5490125 NCBI chr 3:107,919,566...107,925,289
Ensembl chr 3:107,919,571...107,925,289
JBrowse link
G Gstp1 glutathione S-transferase, pi 1 susceptibility ISO DNA:polymorphism:exon:p.A114V (human) RGD PMID:12241105 RGD:5490125 NCBI chr19:4,085,411...4,087,912
Ensembl chr19:4,085,407...4,087,985
JBrowse link
G Hey1 hairy/enhancer-of-split related with YRPW motif 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21127729 NCBI chr 3:8,728,419...8,732,098
Ensembl chr 3:8,728,419...8,732,316
JBrowse link
G Hey2 hairy/enhancer-of-split related with YRPW motif 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21127729 NCBI chr10:30,708,355...30,718,779
Ensembl chr10:30,708,355...30,718,797
JBrowse link
G Hgf hepatocyte growth factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:11223164 NCBI chr 5:16,758,493...16,827,448
Ensembl chr 5:16,758,493...16,825,150
JBrowse link
G Hif1a hypoxia inducible factor 1, alpha subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:15341671 NCBI chr12:73,948,186...73,994,304
Ensembl chr12:73,948,149...73,994,304
JBrowse link
G Il16 interleukin 16 ISO protein:increased expression:brain RGD PMID:17221335 RGD:5024941 NCBI chr 7:83,292,027...83,395,479
Ensembl chr 7:83,292,033...83,394,934
JBrowse link
G Kras Kirsten rat sarcoma viral oncogene homolog susceptibility ISO
IGI
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 6:145,162,425...145,197,631
Ensembl chr 6:145,162,425...145,195,965
JBrowse link
G Lats1 large tumor suppressor ISO CTD Direct Evidence: marker/mechanism CTD PMID:17049657 NCBI chr10:7,556,964...7,592,225
Ensembl chr10:7,556,978...7,592,224
JBrowse link
G Lats2 large tumor suppressor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17049657 NCBI chr14:57,927,119...57,983,669
Ensembl chr14:57,927,119...57,995,845
Ensembl chr14:57,927,119...57,995,845
JBrowse link
G Map2k3 mitogen-activated protein kinase kinase 3 ISO protein:increased expression, increased phosphorylation:brain RGD PMID:17406030 RGD:1641940 NCBI chr11:60,822,880...60,843,637
Ensembl chr11:60,822,859...60,843,637
JBrowse link
G Met met proto-oncogene ISO CTD Direct Evidence: marker/mechanism CTD PMID:11223164 NCBI chr 6:17,463,351...17,573,979
Ensembl chr 6:17,463,799...17,573,979
JBrowse link
G Mir155hg Mir155 host gene (non-protein coding) severity ISO RGD PMID:27764782 RGD:11571728 NCBI chr16:84,509,911...84,512,133
Ensembl chr16:84,500,055...84,512,133
JBrowse link
G Mmp3 matrix metallopeptidase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20188714 NCBI chr 9:7,445,845...7,455,975
Ensembl chr 9:7,445,822...7,455,975
JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20188714 NCBI chr 2:164,782,246...164,797,770
Ensembl chr 2:164,782,700...164,797,770
JBrowse link
G Mre11a MRE11A homolog A, double strand break repair nuclease severity ISO mRNA:decreased expression:brain tumor (human) RGD PMID:17034947 RGD:2317736 NCBI chr 9:14,695,971...14,748,421
Ensembl chr 9:14,695,950...14,748,419
JBrowse link
G Ncoa3 nuclear receptor coactivator 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24680642 NCBI chr 2:165,834,557...165,915,162
Ensembl chr 2:165,834,556...165,915,162
JBrowse link
G Ndrg1 N-myc downstream regulated gene 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15341671 NCBI chr15:66,801,167...66,841,490
Ensembl chr15:66,801,167...66,841,489
JBrowse link
G Nedd8 neural precursor cell expressed, developmentally down-regulated gene 8 ISO RGD PMID:12533840 RGD:1549458 NCBI chr14:55,899,720...55,909,337
Ensembl chr14:55,899,720...55,909,581
JBrowse link
G Nf1 neurofibromin 1 IMP
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 chr11:79,223,541...79,472,435
Ensembl chr11:79,230,519...79,472,438
JBrowse link
G Notch1 notch 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21127729 NCBI chr 2:26,347,914...26,393,834
Ensembl chr 2:26,347,915...26,406,675
JBrowse link
G Notch2 notch 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21127729 NCBI chr 3:97,920,854...98,057,683
Ensembl chr 3:97,920,843...98,057,677
JBrowse link
G Ntrk2 neurotrophic tyrosine kinase, receptor, type 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23817572 NCBI chr13:58,954,363...59,281,782
Ensembl chr13:58,954,383...59,281,784
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 chr10:7,503,608...7,556,922
Ensembl chr10:7,505,137...7,556,900
JBrowse link
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23817572 NCBI chr 5:121,268,596...121,329,460
Ensembl chr 5:121,268,596...121,329,460
JBrowse link
G Slc7a5 solute carrier family 7 (cationic amino acid transporter, y+ system), member 5 disease_progression ISO RGD PMID:16496379 RGD:151361115 NCBI chr 8:122,607,885...122,634,425
Ensembl chr 8:122,607,889...122,634,433
JBrowse link
G Tial1 Tia1 cytotoxic granule-associated RNA binding protein-like 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27106762 NCBI chr 7:128,041,496...128,063,450
Ensembl chr 7:128,041,501...128,063,441
JBrowse link
G Trp53 transformation related protein 53 susceptibility EXP
ISO
IGI
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 chr11:69,471,174...69,482,699
Ensembl chr11:69,471,185...69,482,699
JBrowse link
medulloblastoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ank3 ankyrin 3, epithelial ISO ClinVar Annotator: match by term: Classic medulloblastoma ClinVar NCBI chr10:69,234,608...69,863,266
Ensembl chr10:69,234,603...69,863,268
JBrowse link
G Apc APC, WNT signaling pathway regulator ISO associated with Adenomatous Polyposis Coli;DNA:mutations: :
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:7661930 PMID:17238184 RGD:6484523 NCBI chr18:34,353,350...34,455,243
Ensembl chr18:34,353,977...34,455,605
JBrowse link
G Arid1a AT-rich interaction domain 1A ISO ClinVar Annotator: match by term: Medulloblastoma ClinVar PMID:26822237 NCBI chr 4:133,406,319...133,484,682
Ensembl chr 4:133,406,319...133,484,080
JBrowse link
G Arid1b AT-rich interaction domain 1B ISO ClinVar Annotator: match by term: Medulloblastoma ClinVar PMID:25741868 PMID:26822237 NCBI chr17:5,044,481...5,397,931
Ensembl chr17:5,044,607...5,397,931
JBrowse link
G Atoh1 atonal bHLH transcription factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18347096 NCBI chr 6:64,706,109...64,708,229
Ensembl chr 6:64,706,109...64,708,229
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 chr14:30,973,358...30,981,887
Ensembl chr14:30,973,407...30,981,901
JBrowse link
G Brca2 breast cancer 2, early onset IMP
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 chr 5:150,445,759...150,493,612
Ensembl chr 5:150,446,095...150,493,794
JBrowse link
G Brd2 bromodomain containing 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24231268 NCBI chr17:34,330,993...34,341,581
Ensembl chr17:34,330,997...34,341,608
JBrowse link
G Brd3 bromodomain containing 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24231268 NCBI chr 2:27,335,588...27,397,669
Ensembl chr 2:27,335,591...27,397,674
JBrowse link
G Brd4 bromodomain containing 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24231268 PMID:31594641 NCBI chr17:32,415,246...32,503,717
Ensembl chr17:32,415,248...32,503,696
JBrowse link
G Ccnd1 cyclin D1 IMP RGD PMID:16943274 RGD:13681932 NCBI chr 7:144,483,668...144,493,568
Ensembl chr 7:144,483,668...144,493,662
JBrowse link
G Ccne1 cyclin E1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19270706 NCBI chr 7:37,797,409...37,806,915
Ensembl chr 7:37,797,409...37,806,959
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 5:3,391,004...3,581,008
Ensembl chr 5:3,391,485...3,581,008
JBrowse link
G Cdk9 cyclin dependent kinase 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:31594641 NCBI chr 2:32,595,794...32,608,098
Ensembl chr 2:32,595,796...32,603,088
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 chr16:3,899,198...4,031,864
Ensembl chr16:3,899,192...4,031,861
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 9:120,762,466...120,789,573
Ensembl chr 9:120,758,282...120,789,573
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:13,147,261...13,160,222
Ensembl chr  X:13,147,209...13,160,291
JBrowse link
G Dicer1 dicer 1, ribonuclease type III ISO ClinVar Annotator: match by term: Medulloblastoma ClinVar PMID:25741868 NCBI chr12:104,654,001...104,718,331
Ensembl chr12:104,654,001...104,718,211
JBrowse link
G Dnmt1 DNA methyltransferase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19155313 NCBI chr 9:20,818,501...20,871,084
Ensembl chr 9:20,818,505...20,871,184
JBrowse link
G Ehmt1 euchromatic histone methyltransferase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19270706 NCBI chr 2:24,680,781...24,809,658
Ensembl chr 2:24,679,940...24,809,626
JBrowse link
G Elp1 elongator complex protein 1 ISO ClinVar Annotator: match by term: MEDULLOBLASTOMA PREDISPOSITION SYNDROME | ClinVar Annotator: match by term: Medulloblastoma | ClinVar Annotator: match by term: Medulloblastoma, somatic
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:9536098 PMID:11179008 PMID:11179021 PMID:12116234 PMID:16199547 More... NCBI chr 4:56,746,547...56,802,565
Ensembl chr 4:56,749,680...56,802,331
JBrowse link
G Ep300 E1A binding protein p300 ISO ClinVar Annotator: match by term: Medulloblastoma ClinVar PMID:26619011 NCBI chr15:81,470,329...81,536,273
Ensembl chr15:81,469,552...81,536,278
JBrowse link
G Erbb2 erb-b2 receptor tyrosine kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20168248 NCBI chr11:98,303,310...98,328,542
Ensembl chr11:98,303,296...98,328,542
JBrowse link
G Esr2 estrogen receptor 2 (beta) ISO CTD Direct Evidence: therapeutic CTD PMID:21351254 NCBI chr12:76,167,193...76,224,033
Ensembl chr12:76,167,193...76,224,033
JBrowse link
G Fbxw7 F-box and WD-40 domain protein 7 ISO ClinVar Annotator: match by term: MEDULLOBLASTOMA PREDISPOSITION SYNDROME ClinVar PMID:26619011 NCBI chr 3:84,721,901...84,886,505
Ensembl chr 3:84,722,575...84,886,505
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 chr 8:26,008,808...26,067,819
Ensembl chr 8:26,003,670...26,065,734
JBrowse link
G Fli1 Friend leukemia integration 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19270706 NCBI chr 9:32,333,500...32,454,292
Ensembl chr 9:32,333,500...32,454,157
JBrowse link
G Foxo3 forkhead box O3 ISO ClinVar Annotator: match by term: Medulloblastoma ClinVar PMID:26822237 NCBI chr10:42,057,841...42,152,691
Ensembl chr10:42,057,837...42,152,751
JBrowse link
G Gpr161 G protein-coupled receptor 161 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Medulloblastoma
OMIM
CTD
ClinVar
PMID:31609649 NCBI chr 1:165,108,760...165,154,314
Ensembl chr 1:165,123,358...165,154,314
JBrowse link
G Gstm1 glutathione S-transferase, mu 1 ISO DNA:deletion: : RGD PMID:18952980 RGD:5490237 NCBI chr 3:107,919,566...107,925,289
Ensembl chr 3:107,919,571...107,925,289
JBrowse link
G Gstt1 glutathione S-transferase, theta 1 ISO DNA:deletion: : RGD PMID:18952980 RGD:5490237 NCBI chr10:75,619,647...75,634,418
Ensembl chr10:75,619,647...75,634,418
JBrowse link
G Hic1 hypermethylated in cancer 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18347096 NCBI chr11:75,052,203...75,059,970
Ensembl chr11:75,055,391...75,060,345
JBrowse link
G Idh1 isocitrate dehydrogenase 1 (NADP+), soluble ISO ClinVar Annotator: match by term: MEDULLOBLASTOMA PREDISPOSITION SYNDROME ClinVar PMID:18772396 PMID:19657110 PMID:19798509 PMID:19818334 PMID:20946881 More... NCBI chr 1:65,197,775...65,225,638
Ensembl chr 1:65,197,775...65,225,659
JBrowse link
G Irs2 insulin receptor substrate 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19270706 NCBI chr 8:11,034,681...11,058,929
Ensembl chr 8:11,034,681...11,058,458
JBrowse link
G Kat6a K(lysine) acetyltransferase 6A ISO CTD Direct Evidence: marker/mechanism CTD PMID:19270706 NCBI chr 8:23,349,458...23,433,275
Ensembl chr 8:23,349,551...23,433,275
JBrowse link
G Kdm4b lysine (K)-specific demethylase 4B ISO mRNA:increased expression:brain (human)
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:19270706 PMID:19270706 RGD:9587481 NCBI chr17:56,632,975...56,710,774
Ensembl chr17:56,633,062...56,709,870
JBrowse link
G Kdm4c lysine (K)-specific demethylase 4C ISO mRNA:increased expression:brain (human)
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:19270706 PMID:19270706 RGD:9587481 NCBI chr 4:74,160,734...74,324,101
Ensembl chr 4:74,160,734...74,324,097
JBrowse link
G L3mbtl2 L3MBTL2 polycomb repressive complex 1 subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:19270706 NCBI chr15:81,548,090...81,572,516
Ensembl chr15:81,548,090...81,572,516
JBrowse link
G L3mbtl3 L3MBTL3 histone methyl-lysine binding protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:19270706 NCBI chr10:26,150,361...26,252,426
Ensembl chr10:26,150,366...26,251,967
JBrowse link
G Mpl myeloproliferative leukemia virus oncogene ISO CTD Direct Evidence: marker/mechanism CTD PMID:19270706 NCBI chr 4:118,299,609...118,314,771
Ensembl chr 4:118,299,612...118,314,710
JBrowse link
G Myc myelocytomatosis oncogene ISO CTD Direct Evidence: marker/mechanism CTD PMID:19270706 PMID:31694585 NCBI chr15:61,857,190...61,862,210
Ensembl chr15:61,857,240...61,862,223
JBrowse link
G Mycl v-myc avian myelocytomatosis viral oncogene lung carcinoma derived ISO CTD Direct Evidence: marker/mechanism CTD PMID:19270706 NCBI chr 4:122,889,414...122,896,278
Ensembl chr 4:122,889,445...122,896,278
JBrowse link
G Mycn v-myc avian myelocytomatosis viral related oncogene, neuroblastoma derived ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Medulloblastoma
CTD
ClinVar
PMID:19270706 PMID:26619011 NCBI chr12:12,986,094...12,991,837
Ensembl chr12:12,986,094...12,991,915
JBrowse link
G Nono non-POU-domain-containing, octamer binding protein ISO ClinVar Annotator: match by term: Medulloblastoma ClinVar PMID:25741868 PMID:26822237 NCBI chr  X:100,473,295...100,492,193
Ensembl chr  X:100,472,924...100,492,197
JBrowse link
G Nras neuroblastoma ras oncogene ISO ClinVar Annotator: match by term: MEDULLOBLASTOMA PREDISPOSITION SYNDROME ClinVar PMID:2407301 PMID:2674680 PMID:2989702 PMID:3102434 PMID:8120410 More... NCBI chr 3:102,965,643...102,975,230
Ensembl chr 3:102,965,601...102,975,230
JBrowse link
G Otx2 orthodenticle homeobox 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19270706 NCBI chr14:48,894,238...48,905,101
Ensembl chr14:48,895,134...48,911,276
JBrowse link
G Pdgfra platelet derived growth factor receptor, alpha polypeptide severity ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:19270706 PMID:25576913 RGD:13702904 NCBI chr 5:75,311,988...75,358,867
Ensembl chr 5:75,312,953...75,358,876
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 3:32,451,203...32,520,256
Ensembl chr 3:32,451,820...32,522,635
JBrowse link
G Pik3cg phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma ISO CTD Direct Evidence: marker/mechanism CTD PMID:21652733 NCBI chr12:32,223,128...32,258,675
Ensembl chr12:32,223,472...32,258,658
JBrowse link
G Pramex1 PRAME like, X-linked 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16179254 NCBI chr  X:134,513,662...134,528,437
Ensembl chr  X:134,513,751...134,528,454
JBrowse link
G Prkar1a protein kinase, cAMP dependent regulatory, type I, alpha ISO ClinVar Annotator: match by term: Medulloblastoma ClinVar PMID:26822237 PMID:28492532 NCBI chr11:109,539,849...109,560,489
Ensembl chr11:109,540,231...109,560,482
JBrowse link
G Prmt5 protein arginine N-methyltransferase 5 ISO CTD Direct Evidence: therapeutic CTD PMID:31694585 NCBI chr14:54,744,639...54,754,927
Ensembl chr14:54,744,644...54,754,982
JBrowse link
G Ptch1 patched 1 ISO
IMP
IAGP
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Medulloblastoma
OMIM:155255
CTD
ClinVar
MouseDO
RGD
PMID:16301862 PMID:16419085 PMID:18347096 PMID:19155313 PMID:19213072 More... RGD:150523834 NCBI chr13:63,656,142...63,721,274
Ensembl chr13:63,656,142...63,721,412
JBrowse link
G Ptch2 patched 2 ISO CTD Direct Evidence: marker/mechanism OMIM
CTD
NCBI chr 4:116,953,253...116,973,298
Ensembl chr 4:116,953,272...116,973,298
JBrowse link
G Rassf1 Ras association (RalGDS/AF-6) domain family member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21880625 NCBI chr 9:107,428,752...107,439,460
Ensembl chr 9:107,428,754...107,439,466
JBrowse link
G Rb1 RB transcriptional corepressor 1 IGI
ISO
ClinVar Annotator: match by term: Medulloblastoma ClinVar
RGD
PMID:25741868 PMID:28492532 PMID:10783170 RGD:1302544 NCBI chr14:73,430,298...73,563,446
Ensembl chr14:73,421,113...73,563,262
JBrowse link
G Ret ret proto-oncogene ISO ClinVar Annotator: match by term: Medulloblastoma ClinVar PMID:11436122 PMID:24033266 PMID:25741868 PMID:28492532 PMID:36900197 NCBI chr 6:118,128,709...118,174,705
Ensembl chr 6:118,128,706...118,174,679
JBrowse link
G S100a10 S100 calcium binding protein A10 (calpactin) ISO CTD Direct Evidence: marker/mechanism CTD PMID:17579622 NCBI chr 3:93,462,424...93,471,952
Ensembl chr 3:93,462,387...93,471,950
JBrowse link
G S100a4 S100 calcium binding protein A4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17579622 NCBI chr 3:90,511,077...90,513,349
Ensembl chr 3:90,511,078...90,513,352
JBrowse link
G S100a6 S100 calcium binding protein A6 (calcyclin) ISO CTD Direct Evidence: marker/mechanism CTD PMID:17579622 NCBI chr 3:90,520,491...90,531,797
Ensembl chr 3:90,520,189...90,531,488
JBrowse link
G Scg5 secretogranin V ISO CTD Direct Evidence: marker/mechanism CTD PMID:17334394 NCBI chr 2:113,606,708...113,659,423
Ensembl chr 2:113,606,707...113,659,466
JBrowse link
G Scml2 Scm polycomb group protein like 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19270706 NCBI chr  X:159,865,521...160,041,214
Ensembl chr  X:159,865,521...160,041,209
JBrowse link
G Sf3b2 splicing factor 3b, subunit 2 ISO ClinVar Annotator: match by term: MEDULLOBLASTOMA PREDISPOSITION SYNDROME ClinVar PMID:26619011 NCBI chr19:5,323,949...5,345,485
Ensembl chr19:5,323,960...5,345,483
JBrowse link
G Skp2 S-phase kinase-associated protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19270706 NCBI chr15:9,112,070...9,155,512
Ensembl chr15:9,112,073...9,155,512
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:26822237 NCBI chr 9:21,527,377...21,615,526
Ensembl chr 9:21,527,465...21,615,526
JBrowse link
G Smo smoothened, frizzled class receptor treatment ISO
IMP
ClinVar Annotator: match by term: Medulloblastoma ClinVar
RGD
PMID:19726788 PMID:22679179 PMID:25759020 PMID:22084163 RGD:150521622 NCBI chr 6:29,735,480...29,761,359
Ensembl chr 6:29,735,502...29,761,364
JBrowse link
G Smyd4 SET and MYND domain containing 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19270706 NCBI chr11:75,239,259...75,296,533
Ensembl chr11:75,239,259...75,296,531
JBrowse link
G Stat3 signal transducer and activator of transcription 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19001435 NCBI chr11:100,777,632...100,830,447
Ensembl chr11:100,775,924...100,830,366
JBrowse link
G Strada STE20-related kinase adaptor alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:21652733 NCBI chr11:106,053,739...106,084,460
Ensembl chr11:106,054,156...106,092,994
JBrowse link
G Sufu SUFU negative regulator of hedgehog signaling ISO protein:increased expression:brain (rat)
ClinVar Annotator: match by term: MEDULLOBLASTOMA PREDISPOSITION SYNDROME | ClinVar Annotator: match by term: Medulloblastoma
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
RGD
PMID:12068298 PMID:17102621 PMID:19533801 PMID:19833601 PMID:21188540 More... RGD:150573693 NCBI chr19:46,385,335...46,477,243
Ensembl chr19:46,385,335...46,477,243
JBrowse link
G Trp53 transformation related protein 53 disease_progression ISO
IGI
protein:increased expression:nucleus:
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
ClinVar
RGD
PMID:1359493 PMID:1565143 PMID:1565144 PMID:1631137 PMID:1644930 More... RGD:8547823, RGD:1302544 NCBI chr11:69,471,174...69,482,699
Ensembl chr11:69,471,185...69,482,699
JBrowse link
G Tsc2 TSC complex subunit 2 ISO DNA:polymorphism:intron RGD PMID:11603814 RGD:11072879 NCBI chr17:24,814,788...24,851,607
Ensembl chr17:24,814,790...24,851,604
JBrowse link
G Tubb4a tubulin, beta 4A class IVA ISO ClinVar Annotator: match by term: Classic medulloblastoma ClinVar NCBI chr17:57,387,061...57,394,600
Ensembl chr17:57,387,066...57,394,782
JBrowse link
G Vav1 vav 1 oncogene ISO CTD Direct Evidence: marker/mechanism CTD PMID:19270706 NCBI chr17:57,586,080...57,636,236
Ensembl chr17:57,586,100...57,635,031
JBrowse link
G Wrn Werner syndrome RecQ like helicase ISO ClinVar Annotator: match by term: Medulloblastoma ClinVar PMID:8968742 PMID:9225981 PMID:16673358 PMID:16786514 PMID:20301687 More... NCBI chr 8:33,724,400...33,875,591
Ensembl chr 8:33,724,412...33,875,555
JBrowse link
Megalencephaly-Polydactyly Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mycn v-myc avian myelocytomatosis viral related oncogene, neuroblastoma derived ISO ClinVar Annotator: match by term: megalencephaly-polydactyly syndrome ClinVar
OMIM
PMID:25741868 PMID:30573562 NCBI chr12:12,986,094...12,991,837
Ensembl chr12:12,986,094...12,991,915
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 4:89,192,710...89,212,856
Ensembl chr 4:89,192,708...89,212,890
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 chr 5:114,760,213...114,796,497
Ensembl chr 5:114,760,213...114,796,482
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 2:180,961,504...180,998,409
Ensembl chr 2:180,961,532...180,998,409
JBrowse link
neuroblastoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcb1a ATP-binding cassette, sub-family B member 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:8761367 NCBI chr 5:8,617,091...8,798,575
Ensembl chr 5:8,710,077...8,798,575
JBrowse link
G Alk anaplastic lymphoma 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 chr17:72,174,206...72,911,719
Ensembl chr17:72,175,967...72,911,622
JBrowse link
G Alox5ap arachidonate 5-lipoxygenase activating protein ISO mRNA, protein:increased expression:neuroblastoma (human) RGD PMID:18591367 RGD:2313903 NCBI chr 5:149,201,814...149,224,963
Ensembl chr 5:149,201,577...149,224,963
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 4:133,406,319...133,484,682
Ensembl chr 4:133,406,319...133,484,080
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 chr17:5,044,481...5,397,931
Ensembl chr17:5,044,607...5,397,931
JBrowse link
G Atrx ATRX, chromatin remodeler ISO CTD Direct Evidence: marker/mechanism CTD PMID:23334666 PMID:26523776 NCBI chr  X:104,841,221...104,972,978
Ensembl chr  X:104,841,221...104,973,009
JBrowse link
G Aurka aurora kinase A ISO CTD Direct Evidence: marker/mechanism CTD PMID:22588779 NCBI chr 2:172,198,116...172,212,825
Ensembl chr 2:172,198,110...172,212,455
JBrowse link
G Bard1 BRCA1 associated RING domain 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19412175 PMID:23334666 NCBI chr 1:71,066,694...71,142,300
Ensembl chr 1:71,066,657...71,142,305
JBrowse link
G Bche butyrylcholinesterase ISO CTD Direct Evidence: marker/mechanism CTD PMID:2317787 NCBI chr 3:73,543,138...73,615,767
Ensembl chr 3:73,543,141...73,615,748
JBrowse link
G Birc2 baculoviral IAP repeat-containing 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:34626302 NCBI chr 9:7,818,227...7,837,123
Ensembl chr 9:7,818,228...7,837,065
JBrowse link
G Birc3 baculoviral IAP repeat-containing 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:34626302 NCBI chr 9:7,848,698...7,873,199
Ensembl chr 9:7,848,700...7,873,187
JBrowse link
G Brca2 breast cancer 2, early onset ISO ClinVar Annotator: match by term: Neuroblastoma ClinVar PMID:16284991 PMID:19043619 PMID:20127978 PMID:21702907 PMID:22034289 More... NCBI chr 5:150,445,759...150,493,612
Ensembl chr 5:150,446,095...150,493,794
JBrowse link
G Cd44 CD44 antigen ISO CTD Direct Evidence: marker/mechanism CTD PMID:34626302 NCBI chr 2:102,641,486...102,732,014
Ensembl chr 2:102,641,486...102,732,010
JBrowse link
G Cd55 CD55 molecule, decay accelerating factor for complement ISO RGD PMID:10850450 RGD:2326181 NCBI chr 1:130,357,526...130,390,513
Ensembl chr 1:130,366,764...130,390,481
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 4:89,192,710...89,212,856
Ensembl chr 4:89,192,708...89,212,890
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 chr17:56,347,404...56,375,027
Ensembl chr17:56,347,439...56,379,289
JBrowse link
G Chd5 chromodomain helicase DNA binding protein 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26121086 NCBI chr 4:152,423,103...152,474,651
Ensembl chr 4:152,423,108...152,474,651
JBrowse link
G Chd6 chromodomain helicase DNA binding protein 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18577749 NCBI chr 2:160,788,898...160,951,006
Ensembl chr 2:160,788,898...160,950,995
JBrowse link
G Chek2 checkpoint kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23334666 NCBI chr 5:110,987,668...111,022,006
Ensembl chr 5:110,987,845...111,022,011
JBrowse link
G Dbh dopamine beta hydroxylase ISO CTD Direct Evidence: marker/mechanism CTD PMID:25174395 NCBI chr 2:27,055,519...27,073,216
Ensembl chr 2:27,055,245...27,073,212
JBrowse link
G Dock8 dedicator of cytokinesis 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26121086 NCBI chr19:24,976,753...25,179,796
Ensembl chr19:24,976,898...25,179,796
JBrowse link
G Esr1 estrogen receptor 1 (alpha) ISO CTD Direct Evidence: marker/mechanism CTD PMID:27366082 NCBI chr10:4,561,989...4,955,633
Ensembl chr10:4,561,593...4,955,614
JBrowse link
G Fanca Fanconi anemia, complementation group A ISO ClinVar Annotator: match by term: Neuroblastoma ClinVar PMID:9536098 PMID:15059067 PMID:17576681 PMID:24584348 PMID:25741868 More... NCBI chr 8:123,993,033...124,045,390
Ensembl chr 8:123,995,039...124,045,315
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 chr 8:26,008,808...26,067,819
Ensembl chr 8:26,003,670...26,065,734
JBrowse link
G Fgfr3 fibroblast growth factor receptor 3 ISO ClinVar Annotator: match by term: Neuroblastoma ClinVar PMID:26822237 NCBI chr 5:33,879,068...33,894,412
Ensembl chr 5:33,879,018...33,894,412
JBrowse link
G Gata3 GATA binding protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30127528 NCBI chr 2:9,861,889...9,894,845
Ensembl chr 2:9,861,889...9,894,845
JBrowse link
G Gnas GNAS complex locus ISO CTD Direct Evidence: marker/mechanism CTD PMID:20862257 NCBI chr 2:174,126,113...174,188,537
Ensembl chr 2:174,126,113...174,188,537
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 chr10:45,453,911...45,588,441
Ensembl chr10:45,453,925...45,588,441
JBrowse link
G Hand2 heart and neural crest derivatives expressed 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30127528 NCBI chr 8:57,774,018...57,777,552
Ensembl chr 8:57,774,018...57,777,668
JBrowse link
G Hgf hepatocyte growth factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:16051641 NCBI chr 5:16,758,493...16,827,448
Ensembl chr 5:16,758,493...16,825,150
JBrowse link
G Hras Harvey rat sarcoma virus oncogene ISO CTD Direct Evidence: marker/mechanism CTD PMID:15814359 PMID:26121086 NCBI chr 7:140,770,839...140,773,938
Ensembl chr 7:140,769,018...140,773,918
JBrowse link
G Ifnb1 interferon beta 1, fibroblast ISO CTD Direct Evidence: therapeutic CTD PMID:16115947 NCBI chr 4:88,440,253...88,441,083
Ensembl chr 4:88,440,262...88,441,011
JBrowse link
G Igf1r insulin-like growth factor I receptor ISO protein: decreased tyrosine phosphorylation: : Y1131 RGD PMID:17121898 RGD:7242922 NCBI chr 7:67,601,486...67,883,416
Ensembl chr 7:67,602,575...67,883,416
JBrowse link
G Igf2bp1 insulin-like growth factor 2 mRNA binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:37246217 NCBI chr11:95,847,989...95,896,770
Ensembl chr11:95,847,989...95,896,766
JBrowse link
G Il18 interleukin 18 susceptibility IMP RGD PMID:16428511 RGD:8655920 NCBI chr 9:50,466,000...50,493,141
Ensembl chr 9:50,466,127...50,493,140
JBrowse link
G Il1b interleukin 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:34626302 NCBI chr 2:129,206,490...129,213,059
Ensembl chr 2:129,206,490...129,213,059
JBrowse link
G Isl1 ISL1 transcription factor, LIM/homeodomain ISO CTD Direct Evidence: marker/mechanism CTD PMID:30127528 NCBI chr13:116,434,806...116,446,224
Ensembl chr13:116,434,817...116,446,225
JBrowse link
G Kif1b kinesin family member 1B susceptibility 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 4:149,260,776...149,392,762
Ensembl chr 4:149,260,776...149,392,150
JBrowse link
G Kras Kirsten rat sarcoma viral oncogene homolog ISO CTD Direct Evidence: marker/mechanism CTD PMID:26121086 NCBI chr 6:145,162,425...145,197,631
Ensembl chr 6:145,162,425...145,195,965
JBrowse link
G Lin28b lin-28 homolog B ISO CTD Direct Evidence: marker/mechanism CTD PMID:22941191 PMID:23042116 NCBI chr10:45,252,713...45,362,410
Ensembl chr10:45,252,716...45,362,491
JBrowse link
G Map2k4 mitogen-activated protein kinase kinase 4 ISO ClinVar Annotator: match by term: Neuroblastoma ClinVar PMID:26822237 NCBI chr11:65,579,070...65,679,185
Ensembl chr11:65,579,069...65,679,123
JBrowse link
G Map2k7 mitogen-activated protein kinase kinase 7 ISO ClinVar Annotator: match by term: Neuroblastoma ClinVar PMID:26822237 NCBI chr 8:4,288,740...4,297,897
Ensembl chr 8:4,288,740...4,297,897
Ensembl chr 8:4,288,740...4,297,897
JBrowse link
G Men1 multiple endocrine neoplasia 1 ISO ClinVar Annotator: match by term: Neuroblastoma ClinVar PMID:25741868 NCBI chr19:6,385,009...6,390,924
Ensembl chr19:6,385,009...6,390,921
JBrowse link
G Met met proto-oncogene ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Neuroblastoma
CTD
ClinVar
PMID:16051641 PMID:26822237 NCBI chr 6:17,463,351...17,573,979
Ensembl chr 6:17,463,799...17,573,979
JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:34626302 NCBI chr 2:164,782,246...164,797,770
Ensembl chr 2:164,782,700...164,797,770
JBrowse link
G mt-Co2 cytochrome c oxidase II, mitochondrial ISO CTD Direct Evidence: marker/mechanism CTD PMID:15492235 NCBI chr MT:7,013...7,696
Ensembl chr MT:7,013...7,696
JBrowse link
G Mtfp1 mitochondrial fission process 1 severity ISO mRNA:increased expression:neural tissue (human) RGD PMID:27765905 RGD:12880392 NCBI chr11:4,041,481...4,045,431
Ensembl chr11:4,041,480...4,045,445
JBrowse link
G Myb myeloblastosis oncogene ISO CTD Direct Evidence: marker/mechanism CTD PMID:34626302 NCBI chr10:21,000,829...21,036,883
Ensembl chr10:21,000,834...21,036,883
JBrowse link
G Myc myelocytomatosis oncogene ISO ClinVar Annotator: match by term: Neuroblastoma
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:8761367 PMID:25157968 PMID:26619011 PMID:34626302 NCBI chr15:61,857,190...61,862,210
Ensembl chr15:61,857,240...61,862,223
JBrowse link
G Mycn v-myc avian myelocytomatosis viral related oncogene, neuroblastoma derived 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 chr12:12,986,094...12,991,837
Ensembl chr12:12,986,094...12,991,915
JBrowse link
G Nme1 NME/NM23 nucleoside diphosphate kinase 1 ISO RGD PMID:8047138 RGD:1600229 NCBI chr11:93,849,751...93,859,341
Ensembl chr11:93,847,805...93,859,347
JBrowse link
G Nnat neuronatin ISO CTD Direct Evidence: marker/mechanism CTD PMID:17762496 NCBI chr 2:157,401,936...157,404,445
Ensembl chr 2:157,401,998...157,404,442
JBrowse link
G Nodal nodal ISO mRNA:increased expression:neural tissue (human) RGD PMID:30985990 RGD:155226876 NCBI chr10:61,253,751...61,261,117
Ensembl chr10:61,253,751...61,261,117
JBrowse link
G Nras neuroblastoma ras oncogene 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 3:102,965,643...102,975,230
Ensembl chr 3:102,965,601...102,975,230
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 chr13:55,357,595...55,466,138
Ensembl chr13:55,357,595...55,466,138
JBrowse link
G Nt5e 5' nucleotidase, ecto ISO CTD Direct Evidence: therapeutic CTD PMID:34773529 NCBI chr 9:88,209,662...88,254,142
Ensembl chr 9:88,209,250...88,254,145
JBrowse link
G Ntrk1 neurotrophic tyrosine kinase, receptor, type 1 disease_progression ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:16989911 PMID:8433391 RGD:5684545 NCBI chr 3:87,685,551...87,702,549
Ensembl chr 3:87,685,551...87,702,469
JBrowse link
G Ntrk2 neurotrophic tyrosine kinase, receptor, type 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Neuroblastoma
CTD
ClinVar
PMID:16051641 PMID:26822237 NCBI chr13:58,954,363...59,281,782
Ensembl chr13:58,954,383...59,281,784
JBrowse link
G Pak4 p21 (RAC1) activated kinase 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29048629 NCBI chr 7:28,258,244...28,297,609
Ensembl chr 7:28,258,244...28,297,610
JBrowse link
G Pecam1 platelet/endothelial cell adhesion molecule 1 ISO human tumor in mouse model RGD PMID:22174364 RGD:6767296 NCBI chr11:106,545,039...106,606,107
Ensembl chr11:106,545,043...106,641,454
JBrowse link
G Phf6 PHD finger protein 6 ISO ClinVar Annotator: match by term: Neuroblastoma ClinVar PMID:26822237 NCBI chr  X:52,001,091...52,045,838
Ensembl chr  X:52,001,143...52,045,820
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 chr 5:67,251,751...67,256,399
Ensembl chr 5:67,251,742...67,256,644
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 3:32,451,203...32,520,256
Ensembl chr 3:32,451,820...32,522,635
JBrowse link
G Pink1 PTEN induced putative kinase 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Neuroblastoma
CTD
ClinVar
PMID:23334666 PMID:25741868 NCBI chr 4:138,040,718...138,053,631
Ensembl chr 4:138,040,720...138,053,618
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:134,513,662...134,528,437
Ensembl chr  X:134,513,751...134,528,454
JBrowse link
G Psmd14 proteasome (prosome, macropain) 26S subunit, non-ATPase, 14 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30871063 NCBI chr 2:61,542,038...61,630,720
Ensembl chr 2:61,542,038...61,630,720
JBrowse link
G Ptch1 patched 1 ISO ClinVar Annotator: match by term: Neuroblastoma ClinVar PMID:25741868 PMID:28492532 NCBI chr13:63,656,142...63,721,274
Ensembl chr13:63,656,142...63,721,412
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 chr 5:121,268,596...121,329,460
Ensembl chr 5:121,268,596...121,329,460
JBrowse link
G Ptpn14 protein tyrosine phosphatase, non-receptor type 14 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26121086 NCBI chr 1:189,460,417...189,608,892
Ensembl chr 1:189,460,465...189,608,892
JBrowse link
G Rassf1 Ras association (RalGDS/AF-6) domain family member 1 ISO RGD PMID:12222680 PMID:17325427 RGD:2291977, RGD:2291979 NCBI chr 9:107,428,752...107,439,460
Ensembl chr 9:107,428,754...107,439,466
JBrowse link
G Rassf5 Ras association (RalGDS/AF-6) domain family member 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18452173 NCBI chr 1:131,104,147...131,172,915
Ensembl chr 1:131,104,147...131,172,995
JBrowse link
G Rbm15 RNA binding motif protein 15 ISO ClinVar Annotator: match by term: Neuroblastoma ClinVar PMID:26822237 NCBI chr 3:107,212,827...107,244,102
Ensembl chr 3:107,232,737...107,240,989
JBrowse link
G Rela v-rel reticuloendotheliosis viral oncogene homolog A (avian) ISO CTD Direct Evidence: marker/mechanism CTD PMID:34626302 NCBI chr19:5,686,993...5,698,162
Ensembl chr19:5,687,511...5,698,158
JBrowse link
G Scnn1a sodium channel, nonvoltage-gated 1 alpha disease_progression ISO Low levels of methylation correlate with improved survival RGD PMID:21314941 RGD:5509791 NCBI chr 6:125,286,657...125,321,906
Ensembl chr 6:125,297,622...125,321,906
JBrowse link
G Sdhc succinate dehydrogenase complex, subunit C, integral membrane protein ISO ClinVar Annotator: match by term: Neuroblastoma ClinVar PMID:21979946 PMID:25741868 PMID:28492532 NCBI chr 1:170,956,726...170,978,209
Ensembl chr 1:170,954,734...170,978,172
JBrowse link
G Sema3b sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3B ISO CTD Direct Evidence: marker/mechanism CTD PMID:17452250 NCBI chr 9:107,474,868...107,486,440
Ensembl chr 9:107,474,873...107,486,428
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 9:21,527,377...21,615,526
Ensembl chr 9:21,527,465...21,615,526
JBrowse link
G Snrpe small nuclear ribonucleoprotein E severity ISO mRNA:decreased expression:neuroblastoma (human) RGD PMID:17075126 RGD:10755762 NCBI chr 1:133,531,609...133,538,018
Ensembl chr 1:133,531,609...133,538,029
JBrowse link
G Tbx2 T-box 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30127528 NCBI chr11:85,723,441...85,732,774
Ensembl chr11:85,723,377...85,732,774
JBrowse link
G Tert telomerase reverse transcriptase ISO CTD Direct Evidence: marker/mechanism CTD PMID:26523776 NCBI chr13:73,775,030...73,797,962
Ensembl chr13:73,775,030...73,797,962
JBrowse link
G Th tyrosine hydroxylase ISO CTD Direct Evidence: marker/mechanism CTD PMID:25174395 NCBI chr 7:142,446,516...142,453,732
Ensembl chr 7:142,446,489...142,484,865
JBrowse link
G Tnf tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:34626302 NCBI chr17:35,418,343...35,420,983
Ensembl chr17:35,418,357...35,420,983
JBrowse link
G Tnfsf10 tumor necrosis factor (ligand) superfamily, member 10 ISO CTD Direct Evidence: therapeutic CTD PMID:16820965 NCBI chr 3:27,371,226...27,393,814
Ensembl chr 3:27,371,177...27,396,576
JBrowse link
G Trp53 transformation related protein 53 EXP
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 chr11:69,471,174...69,482,699
Ensembl chr11:69,471,185...69,482,699
JBrowse link
G Trp73 transformation related protein 73 no_association ISO RGD PMID:9288759 RGD:1599583 NCBI chr 4:154,140,706...154,224,332
Ensembl chr 4:154,140,706...154,224,665
JBrowse link
G Tsc1 TSC complex subunit 1 ISO ClinVar Annotator: match by term: Neuroblastoma ClinVar PMID:25741868 NCBI chr 2:28,531,005...28,581,183
Ensembl chr 2:28,531,240...28,581,179
JBrowse link
G Tsc2 TSC complex subunit 2 ISO ClinVar Annotator: match by term: Neuroblastoma ClinVar PMID:26822237 NCBI chr17:24,814,788...24,851,607
Ensembl chr17:24,814,790...24,851,604
JBrowse link
G Yap1 yes-associated protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26121086 NCBI chr 9:7,932,000...8,004,890
Ensembl chr 9:7,932,000...8,004,597
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 chr 8:123,980,934...123,997,290
Ensembl chr 8:123,980,934...123,996,484
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 2 | ClinVar Annotator: match by term: Neuroblastoma, susceptibility to, 2 ClinVar
OMIM
PMID:12640453 PMID:15024693 PMID:15121777 PMID:15338462 PMID:15657873 More... NCBI chr 5:67,251,751...67,256,399
Ensembl chr 5:67,251,742...67,256,644
JBrowse link
Neuroblastoma 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alk anaplastic lymphoma 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 chr17:72,174,206...72,911,719
Ensembl chr17:72,175,967...72,911,622
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 chr17:72,076,674...72,171,205
Ensembl chr17:72,075,468...72,171,268
JBrowse link
G Pcare photoreceptor cilium actin regulator ISO ClinVar Annotator: match by term: Neuroblastoma, susceptibility to, 3 ClinVar PMID:28492532 NCBI chr17:72,050,919...72,059,904
Ensembl chr17:72,050,550...72,059,889
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 chr17:71,980,153...72,036,666
Ensembl chr17:71,980,256...72,036,664
JBrowse link
G Wdr43 WD repeat domain 43 ISO ClinVar Annotator: match by term: Neuroblastoma, susceptibility to, 3 ClinVar PMID:28492532 NCBI chr17:71,923,175...71,966,026
Ensembl chr17:71,922,890...71,966,026
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, alpha subunit severity ISO protein:increased expression:neuroblastoma (human) RGD PMID:18431543 RGD:8694471 NCBI chr12:73,948,186...73,994,304
Ensembl chr12:73,948,149...73,994,304
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:104,841,221...104,972,978
Ensembl chr  X:104,841,221...104,973,009
JBrowse link
G Camk2b calcium/calmodulin-dependent protein kinase II, beta disease_progression IEP RGD PMID:15750623 RGD:13702479 NCBI chr11:5,919,642...6,016,401
Ensembl chr11:5,919,644...6,016,362
JBrowse link
G Cic capicua transcriptional repressor ISO ClinVar Annotator: match by term: Oligodendroglioma ClinVar NCBI chr 7:24,967,054...24,993,584
Ensembl chr 7:24,967,129...24,993,584
JBrowse link
G Dtx1 deltex 1, E3 ubiquitin ligase ISO CTD Direct Evidence: marker/mechanism CTD PMID:21127729 NCBI chr 5:120,818,268...120,850,879
Ensembl chr 5:120,818,267...120,849,992
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 3:129,471,223...129,548,971
Ensembl chr 3:129,471,214...129,548,965
JBrowse link
G Gdnf glial cell line derived neurotrophic factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:19138852 NCBI chr15:7,839,529...7,867,061
Ensembl chr15:7,840,327...7,867,056
JBrowse link
G Hes1 hes family bHLH transcription factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21127729 NCBI chr16:29,883,259...29,886,614
Ensembl chr16:29,883,202...29,886,614
JBrowse link
G Hey1 hairy/enhancer-of-split related with YRPW motif 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21127729 NCBI chr 3:8,728,419...8,732,098
Ensembl chr 3:8,728,419...8,732,316
JBrowse link
G Idh1 isocitrate dehydrogenase 1 (NADP+), soluble 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 1:65,197,775...65,225,638
Ensembl chr 1:65,197,775...65,225,659
JBrowse link
G Idh2 isocitrate dehydrogenase 2 (NADP+), mitochondrial ISO CTD Direct Evidence: marker/mechanism CTD PMID:20160062 NCBI chr 7:79,744,594...79,768,356
Ensembl chr 7:79,744,594...79,765,140
JBrowse link
G Mgmt O-6-methylguanine-DNA methyltransferase ISO DNA:hypermethylation:promoter (human) RGD PMID:15455350 RGD:2317688 NCBI chr 7:136,496,315...136,732,001
Ensembl chr 7:136,496,343...136,731,995
JBrowse link
G Ptges3 prostaglandin E synthase 3 ISO protein:increased expression:brain cortex, white matter (human) RGD PMID:19347995 RGD:5688067 NCBI chr10:127,894,851...127,913,123
Ensembl chr10:127,894,823...127,913,141
JBrowse link
G Rb1 RB transcriptional corepressor 1 disease_progression ISO RGD PMID:15970925 RGD:13782064 NCBI chr14:73,430,298...73,563,446
Ensembl chr14:73,421,113...73,563,262
JBrowse link
optic nerve glioma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alx4 aristaless-like homeobox 4 ISO ClinVar Annotator: match by term: Optic nerve glioma ClinVar PMID:25741868 NCBI chr 2:93,472,779...93,511,686
Ensembl chr 2:93,472,729...93,511,684
JBrowse link
G Cx3cr1 C-X3-C motif chemokine receptor 1 onset IMP associated with Neurofibromatosis 1 RGD PMID:23424002 RGD:9491391 NCBI chr 9:119,877,749...119,897,362
Ensembl chr 9:119,877,749...119,898,945
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 chr11:79,223,541...79,472,435
Ensembl chr11:79,230,519...79,472,438
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 chr10:24,513,812...24,588,057
Ensembl chr10:24,513,812...24,588,057
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 chr14:46,620,982...46,628,126
Ensembl chr14:46,620,977...46,628,126
JBrowse link
G Enpp1 ectonucleotide pyrophosphatase/phosphodiesterase 1 severity ISO
IAGP
DNA:deletion:intron:IVS20-11delT (human)
OMIM:602475
MouseDO
RGD
PMID:15834329 RGD:13204732 NCBI chr10:24,513,812...24,588,057
Ensembl chr10:24,513,812...24,588,057
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 chr 5:114,760,213...114,796,497
Ensembl chr 5:114,760,213...114,796,482
JBrowse link
PERITONEAL GLIOMATOSIS term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fcgr1 Fc receptor, IgG, high affinity I ISO ClinVar Annotator: match by term: Peritoneal Gliomatosis ClinVar NCBI chr 3:96,190,225...96,201,285
Ensembl chr 3:96,190,225...96,201,285
JBrowse link
G H2-Eb1 histocompatibility 2, class II antigen E beta ISO ClinVar Annotator: match by term: Peritoneal Gliomatosis ClinVar NCBI chr17:34,524,841...34,535,648
Ensembl chr17:34,524,841...34,535,648
JBrowse link
G H2bc18 H2B clustered histone 18 ISO ClinVar Annotator: match by term: Peritoneal Gliomatosis ClinVar NCBI chr 3:96,177,016...96,177,508
Ensembl chr 3:96,177,068...96,177,448
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 chr11:59,682,234...59,706,138
Ensembl chr11:59,682,234...59,700,842
JBrowse link
G Kras Kirsten rat sarcoma viral oncogene homolog ISO ClinVar Annotator: match by term: Pilocytic astrocytoma, somatic ClinVar PMID:12460918 PMID:15696205 PMID:16247081 PMID:16361624 PMID:16618717 More... NCBI chr 6:145,162,425...145,197,631
Ensembl chr 6:145,162,425...145,195,965
JBrowse link
G Nf1 neurofibromin 1 ISO ClinVar Annotator: match by term: Pilocytic astrocytoma ClinVar PMID:10712197 PMID:23913538 PMID:25741868 PMID:28492532 NCBI chr11:79,223,541...79,472,435
Ensembl chr11:79,230,519...79,472,438
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 7:121,706,485...121,732,203
Ensembl chr 7:121,706,485...121,732,208
JBrowse link
G Ret ret proto-oncogene ISO ClinVar Annotator: match by term: Pilocytic astrocytoma ClinVar PMID:25741868 PMID:28492532 NCBI chr 6:118,128,709...118,174,705
Ensembl chr 6:118,128,706...118,174,679
JBrowse link
G Sdha succinate dehydrogenase complex, subunit A, flavoprotein (Fp) ISO ClinVar Annotator: match by term: Pilocytic astrocytoma, somatic ClinVar PMID:20484225 PMID:21505157 PMID:21752896 PMID:22955521 PMID:22974104 More... NCBI chr13:74,470,374...74,498,359
Ensembl chr13:74,470,373...74,498,399
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 chr 8:26,008,808...26,067,819
Ensembl chr 8:26,003,670...26,065,734
JBrowse link
Primitive Neuroectodermal Tumors term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ewsr1 Ewing sarcoma breakpoint region 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12162413 NCBI chr11:5,019,687...5,049,314
Ensembl chr11:5,019,689...5,049,266
JBrowse link
G Hes1 hes family bHLH transcription factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21127729 NCBI chr16:29,883,259...29,886,614
Ensembl chr16:29,883,202...29,886,614
JBrowse link
G Hey1 hairy/enhancer-of-split related with YRPW motif 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21127729 NCBI chr 3:8,728,419...8,732,098
Ensembl chr 3:8,728,419...8,732,316
JBrowse link
G Notch2 notch 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21127729 NCBI chr 3:97,920,854...98,057,683
Ensembl chr 3:97,920,843...98,057,677
JBrowse link
G Pms2 PMS1 homolog2, mismatch repair system component ISO CTD Direct Evidence: marker/mechanism CTD PMID:15077197 NCBI chr 5:143,846,379...143,922,538
Ensembl chr 5:143,846,782...143,870,786
Ensembl chr 5:143,846,782...143,870,786
JBrowse link
G Pon1 paraoxonase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16002382 NCBI chr 6:5,168,101...5,193,824
Ensembl chr 6:5,168,090...5,193,946
JBrowse link
G Ptch1 patched 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9581815 NCBI chr13:63,656,142...63,721,274
Ensembl chr13:63,656,142...63,721,412
JBrowse link
G Smo smoothened, frizzled class receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:9581815 NCBI chr 6:29,735,480...29,761,359
Ensembl chr 6:29,735,502...29,761,364
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 2:28,531,005...28,581,183
Ensembl chr 2:28,531,240...28,581,179
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 chr 5:75,735,647...75,817,382
Ensembl chr 5:75,735,576...75,817,382
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 chr16:66,452,302...67,417,825
Ensembl chr16:66,452,307...67,417,796
JBrowse link
G Cdkn2a cyclin dependent kinase inhibitor 2A ISO ClinVar Annotator: match by term: Retinoblastoma ClinVar PMID:25741868 PMID:28492532 NCBI chr 4:89,192,710...89,212,856
Ensembl chr 4:89,192,708...89,212,890
JBrowse link
G Dicer1 dicer 1, ribonuclease type III exacerbates IMP DNA:deletion:haploinsufficiency RGD PMID:20019750 RGD:149735324 NCBI chr12:104,654,001...104,718,331
Ensembl chr12:104,654,001...104,718,211
JBrowse link
G Fancm Fanconi anemia, complementation group M ISO ClinVar Annotator: match by term: Retinoblastoma ClinVar PMID:25741868 NCBI chr12:65,120,884...65,178,616
Ensembl chr12:65,122,377...65,178,832
JBrowse link
G Fas Fas cell surface death receptor severity ISO protein:decreased expression:tumor (human) RGD PMID:14533029 RGD:8662811 NCBI chr19:34,267,926...34,305,175
Ensembl chr19:34,268,066...34,305,172
JBrowse link
G Ifnb1 interferon beta 1, fibroblast ameliorates ISO RGD PMID:19306089 RGD:401854248 NCBI chr 4:88,440,253...88,441,083
Ensembl chr 4:88,440,262...88,441,011
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 chr14:73,599,666...73,622,729
Ensembl chr14:73,599,666...73,622,729
JBrowse link
G Kdm1b lysine (K)-specific demethylase 1B ISO mRNA:increased expression:retina (human) RGD PMID:16180235 RGD:9588276 NCBI chr13:47,196,849...47,238,085
Ensembl chr13:47,196,975...47,238,755
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 chr14:73,475,331...73,477,798
Ensembl chr14:73,475,335...73,480,734
JBrowse link
G Max Max protein ISO ClinVar Annotator: match by term: Retinoblastoma ClinVar PMID:25741868 PMID:28492532 NCBI chr12:76,984,045...77,009,123
Ensembl chr12:76,984,043...77,008,975
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 chr14:73,747,489...73,755,985
Ensembl chr14:73,747,465...73,756,289
JBrowse link
G Mgmt O-6-methylguanine-DNA methyltransferase disease_progression ISO DNA:hypermethylation:promoter (human) RGD PMID:15799820 RGD:2317684 NCBI chr 7:136,496,315...136,732,001
Ensembl chr 7:136,496,343...136,731,995
JBrowse link
G Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase susceptibility ISO DNA:SNP::2756A>G(human) RGD PMID:20310006 RGD:8694083 NCBI chr13:12,196,217...12,273,090
Ensembl chr13:12,197,598...12,272,999
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 4:116,664,846...116,676,641
Ensembl chr 4:116,664,920...116,676,637
JBrowse link
G Nf1 neurofibromin 1 ISO ClinVar Annotator: match by term: Retinoblastoma ClinVar PMID:25741868 PMID:28492532 NCBI chr11:79,223,541...79,472,435
Ensembl chr11:79,230,519...79,472,438
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 chr14:73,756,320...73,785,682
Ensembl chr14:73,756,317...73,785,682
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 7:121,706,485...121,732,203
Ensembl chr 7:121,706,485...121,732,208
JBrowse link
G Ptch1 patched 1 ISO ClinVar Annotator: match by term: Retinoblastoma ClinVar PMID:24728327 PMID:25741868 PMID:28492532 NCBI chr13:63,656,142...63,721,274
Ensembl chr13:63,656,142...63,721,412
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 chr14:73,430,298...73,563,446
Ensembl chr14:73,421,113...73,563,262
JBrowse link
G Serpinf1 serine (or cysteine) peptidase inhibitor, clade F, member 1 treatment ISO human protein and tumor xenograft in a mouse model RGD PMID:19832843 RGD:8554870 NCBI chr11:75,300,855...75,313,449
Ensembl chr11:75,300,595...75,313,527
JBrowse link
G Sncg synuclein, gamma ISO RGD PMID:18728752 RGD:6218971 NCBI chr14:34,092,231...34,096,626
Ensembl chr14:34,092,231...34,096,746
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 chr 8:124,618,497...124,621,514
Ensembl chr 8:124,618,508...124,621,490
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 4:134,468,865...134,495,342
Ensembl chr 4:134,468,865...134,495,335
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 4:134,289,001...134,432,987
Ensembl chr 4:134,289,001...134,431,601
JBrowse link
G Ryr1 ryanodine receptor 1, skeletal muscle 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:20583297 PMID:20839240 More... NCBI chr 7:28,702,765...28,824,599
Ensembl chr 7:28,702,769...28,824,604
JBrowse link
G Selenon selenoprotein N ISO
IAGP
DNA:frameshift mutations, missense mutations, nonsense mutation:cds:multiple (human)
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Eichsfeld type congenital muscular dystrophy | ClinVar Annotator: match by term: MYOPATHY, SEPN1-RELATED
OMIM:602771
CTD
ClinVar
MouseDO
OMIM
RGD
PMID:1219264 PMID:7224095 PMID:9536098 PMID:9585610 PMID:11079538 More... RGD:1599352 NCBI chr 4:134,265,203...134,279,477
Ensembl chr 4:134,265,203...134,279,477
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 IAGP OMIM:181440 MouseDO NCBI chr 9:122,980,011...122,986,497
Ensembl chr 9:122,980,011...122,986,497
JBrowse link
G Nfix nuclear factor I/X IAGP OMIM:181440 MouseDO NCBI chr 8:85,431,341...85,527,086
Ensembl chr 8:85,426,505...85,526,973
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
IAGP
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 1:72,575,593...72,675,949
Ensembl chr 1:72,622,410...72,672,293
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 chr11:69,016,243...69,039,941
Ensembl chr11:69,016,722...69,039,941
JBrowse link
G Chd7 chromodomain helicase DNA binding protein 7 ISO ClinVar Annotator: match by term: Scoliosis ClinVar PMID:25741868 NCBI chr 4:8,690,345...8,868,449
Ensembl chr 4:8,690,406...8,867,659
JBrowse link
G Chrng cholinergic receptor, nicotinic, gamma polypeptide ISO ClinVar Annotator: match by term: Scoliosis ClinVar PMID:15704180 PMID:16826520 PMID:22167768 PMID:25741868 PMID:28492532 More... NCBI chr 1:87,133,533...87,139,365
Ensembl chr 1:87,132,379...87,140,416
JBrowse link
G Crebbp CREB binding protein ISO ClinVar Annotator: match by term: Scoliosis ClinVar NCBI chr16:3,899,198...4,031,864
Ensembl chr16:3,899,192...4,031,861
JBrowse link
G Dll3 delta like canonical Notch ligand 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17849441 NCBI chr 7:27,992,980...28,001,210
Ensembl chr 7:27,992,978...28,001,663
JBrowse link
G Elp1 elongator complex protein 1 ISO RGD PMID:11097445 RGD:5129159 NCBI chr 4:56,746,547...56,802,565
Ensembl chr 4:56,749,680...56,802,331
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 2:125,142,514...125,348,417
Ensembl chr 2:125,142,514...125,349,913
JBrowse link
G Fbn2 fibrillin 2 ISO DNA:frameshift mutation, missense mutations:exon:multiple RGD PMID:24833718 RGD:12910484 NCBI chr18:58,141,689...58,343,200
Ensembl chr18:58,141,695...58,343,559
JBrowse link
G Fgfr3 fibroblast growth factor receptor 3 IAGP MouseDO NCBI chr 5:33,879,068...33,894,412
Ensembl chr 5:33,879,018...33,894,412
JBrowse link
G Flna filamin, alpha ISO ClinVar Annotator: match by term: Scoliosis ClinVar PMID:25741868 PMID:28492532 NCBI chr  X:73,267,067...73,293,787
Ensembl chr  X:73,267,067...73,293,426
JBrowse link
G Fxr1 FMR1 autosomal homolog 1 ISO ClinVar Annotator: match by term: Scoliosis ClinVar PMID:25741868 NCBI chr 3:34,074,133...34,124,129
Ensembl chr 3:34,074,092...34,124,471
JBrowse link
G Gdf3 growth differentiation factor 3 ISO ClinVar Annotator: match by term: Scoliosis ClinVar PMID:19864492 PMID:25741868 PMID:28492532 NCBI chr 6:122,582,362...122,587,046
Ensembl chr 6:122,582,362...122,587,046
JBrowse link
G Gfap glial fibrillary acidic protein ISO ClinVar Annotator: match by term: Scoliosis ClinVar NCBI chr11:102,778,162...102,791,368
Ensembl chr11:102,778,162...102,791,738
JBrowse link
G Hes7 hes family bHLH transcription factor 7 ISO ClinVar Annotator: match by term: Scoliosis ClinVar PMID:25741868 NCBI chr11:69,009,778...69,014,880
Ensembl chr11:69,011,230...69,014,881
JBrowse link
G Jag1 jagged 1 ISO ClinVar Annotator: match by term: Scoliosis ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:136,923,371...136,958,440
Ensembl chr 2:136,923,376...136,958,564
JBrowse link
G Kif1b kinesin family member 1B ISO ClinVar Annotator: match by term: Scoliosis ClinVar PMID:25741868 NCBI chr 4:149,260,776...149,392,762
Ensembl chr 4:149,260,776...149,392,150
JBrowse link
G Mmp1a matrix metallopeptidase 1a (interstitial collagenase) ISO protein:increased expression:intervertebral disc (rat) RGD PMID:21554726 RGD:7207288 NCBI chr 9:7,464,141...7,476,870
Ensembl chr 9:7,464,141...7,476,857
JBrowse link
G Mmp1b matrix metallopeptidase 1b (interstitial collagenase) ISO protein:increased expression:intervertebral disc (rat) RGD PMID:21554726 RGD:7207288 NCBI chr 9:7,367,670...7,388,026
Ensembl chr 9:7,368,239...7,388,047
JBrowse link
G Myf5 myogenic factor 5 ISO ClinVar Annotator: match by term: Scoliosis ClinVar PMID:10844060 PMID:29887215 NCBI chr10:107,318,769...107,322,787
Ensembl chr10:107,318,769...107,321,995
JBrowse link
G Notch1 notch 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17849441 NCBI chr 2:26,347,914...26,393,834
Ensembl chr 2:26,347,915...26,406,675
JBrowse link
G Poc5 POC5 centriolar protein ISO ClinVar Annotator: match by term: Scoliosis ClinVar PMID:25642776 PMID:25741868 PMID:28492532 NCBI chr13:96,524,767...96,553,719
Ensembl chr13:96,524,802...96,554,245
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 chr 5:121,268,596...121,329,460
Ensembl chr 5:121,268,596...121,329,460
JBrowse link
G Rab5if RAB5 interacting factor ISO ClinVar Annotator: match by term: Scoliosis ClinVar PMID:24194475 PMID:35614220 NCBI chr 2:156,705,042...156,715,483
Ensembl chr 2:156,705,048...156,715,483
JBrowse link
G Ryr1 ryanodine receptor 1, skeletal muscle ISO ClinVar Annotator: match by term: Scoliosis ClinVar PMID:17483490 PMID:18253926 PMID:19191329 PMID:19645060 PMID:21062345 More... NCBI chr 7:28,702,765...28,824,599
Ensembl chr 7:28,702,769...28,824,604
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 chr18:62,086,002...62,148,790
Ensembl chr18:62,086,146...62,157,473
JBrowse link
G Tbx6 T-box 6 ISO ClinVar Annotator: match by term: Scoliosis ClinVar PMID:25564734 PMID:25741868 PMID:28054739 PMID:28492532 PMID:31015262 More... NCBI chr 7:126,380,655...126,384,720
Ensembl chr 7:126,380,655...126,384,732
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 chr 1:167,136,239...167,161,547
Ensembl chr 1:167,135,947...167,161,547
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 7:46,294,065...46,321,961
Ensembl chr 7:46,294,065...46,321,961
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 2:93,525,978...93,652,913
Ensembl chr 2:93,491,373...93,652,913
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 (sodium/bile acid cotransporter family), 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 chr 8:79,235,957...79,460,641
Ensembl chr 8:79,235,975...79,460,632
JBrowse link
Smith-McCort dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dym dymeclin IAGP
ISO
OMIM:607326 | OMIM:615222
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Smith-McCort dysplasia
MouseDO
CTD
ClinVar
PMID:25741868 PMID:28492532 NCBI chr18:75,151,772...75,420,037
Ensembl chr18:75,151,852...75,420,035
JBrowse link
G Rab33b RAB33B, member RAS oncogene family ISO ClinVar Annotator: match by term: Smith-McCort dysplasia ClinVar NCBI chr 3:51,391,387...51,403,649
Ensembl chr 3:51,391,341...51,403,653
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 chr18:75,151,772...75,420,037
Ensembl chr18:75,151,852...75,420,035
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
IAGP
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 3:51,391,387...51,403,649
Ensembl chr 3:51,391,341...51,403,653
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 6:115,830,340...115,903,660
Ensembl chr 6:115,830,431...115,903,660
JBrowse link
Spinal Tuberculoses term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G H2-Aa histocompatibility 2, class II antigen A, alpha susceptibility ISO DNA:missense mutation:CDS:c.592C>G (p.Q198E) (human) RGD PMID:29795056 RGD:126928140 NCBI chr17:34,501,718...34,506,797
Ensembl chr17:34,501,718...34,506,797
JBrowse link
Spine Osteoarthritis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cxcl15 C-X-C motif chemokine ligand 15 ISO CTD Direct Evidence: marker/mechanism CTD PMID:34697729 NCBI chr 5:90,942,393...90,950,926
Ensembl chr 5:90,942,393...90,950,926
JBrowse link
G Dusp1 dual specificity phosphatase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:34697729 NCBI chr17:26,724,565...26,727,446
Ensembl chr17:26,724,564...26,781,102
JBrowse link
G Il6 interleukin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:34697729 NCBI chr 5:30,218,112...30,224,973
Ensembl chr 5:30,218,112...30,224,979
JBrowse link
G Lrp5 low density lipoprotein receptor-related protein 5 susceptibility ISO DNA:polymorphism:cds:p.Q89R(human) RGD PMID:17202888 RGD:12792278 NCBI chr19:3,634,825...3,736,574
Ensembl chr19:3,634,828...3,736,564
JBrowse link
G Mir337 microRNA 337 ISO CTD Direct Evidence: marker/mechanism CTD PMID:34697729 NCBI chr12:109,552,223...109,552,319
Ensembl chr12:109,552,223...109,552,319
JBrowse link
G Skp2 S-phase kinase-associated protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:34697729 NCBI chr15:9,112,070...9,155,512
Ensembl chr15:9,112,073...9,155,512
JBrowse link
G Tnf tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:34697729 NCBI chr17:35,418,343...35,420,983
Ensembl chr17:35,418,357...35,420,983
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 2:121,978,168...121,983,563
Ensembl chr 2:121,978,167...121,983,564
JBrowse link
G H2-M2 histocompatibility 2, M region locus 2 susceptibility ISO DNA:polymorphism:cds:HLA-B*2714, B*2705 (human) RGD PMID:12889998 RGD:10755578 NCBI chr17:37,791,742...37,794,445
Ensembl chr17:37,791,742...37,794,443
JBrowse link
G Il17a interleukin 17A ISO protein:increased expression:serum (rat) RGD PMID:21905004 RGD:9068946 NCBI chr 1:20,801,129...20,804,720
Ensembl chr 1:20,801,129...20,804,720
JBrowse link
G Psmb9 proteasome (prosome, macropain) subunit, beta type 9 (large multifunctional peptidase 2) no_association ISO RGD PMID:15603870 PMID:9496154 RGD:6483462, RGD:6483495 NCBI chr17:34,401,006...34,406,347
Ensembl chr17:34,400,961...34,406,738
JBrowse link
G Runx2 runt related transcription factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20008919 NCBI chr17:44,806,873...45,125,518
Ensembl chr17:44,806,874...45,125,684
JBrowse link
spondylocarpotarsal synostosis syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Flnb filamin, beta ISO
IAGP
IMP
ClinVar Annotator: match by term: Scoliosis, congenital with unilateral unsegmented bar | ClinVar Annotator: match by term: Spondylocarpotarsal synostosis syndrome
OMIM:272460
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
MouseDO
CTD
RGD
PMID:14991055 PMID:18257094 PMID:18322662 PMID:18386804 PMID:20301736 More... RGD:12791028 NCBI chr14:14,518,185...14,651,852
Ensembl chr14:14,518,185...14,651,816
JBrowse link
G Myh3 myosin, heavy polypeptide 3, skeletal muscle, embryonic 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 chr11:66,969,101...66,993,117
Ensembl chr11:66,969,126...66,993,112
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 IAGP
ISO
OMIM:122600 | OMIM:277300 | OMIM:608681 | OMIM:609813 | OMIM:613686
ClinVar Annotator: match by term: Spondylocostal dysostosis
MouseDO
ClinVar
NCBI chr 7:27,992,980...28,001,210
Ensembl chr 7:27,992,978...28,001,663
JBrowse link
G Hes7 hes family bHLH transcription factor 7 IAGP MouseDO NCBI chr11:69,009,778...69,014,880
Ensembl chr11:69,011,230...69,014,881
JBrowse link
G Mesp2 mesoderm posterior 2 ISO ClinVar Annotator: match by term: Spondylocostal dysostosis ClinVar PMID:25741868 NCBI chr 7:79,460,475...79,463,179
Ensembl chr 7:79,460,475...79,463,187
JBrowse link
G Ripply2 ripply transcriptional repressor 2 IAGP OMIM:122600 | OMIM:277300 | OMIM:608681 | OMIM:609813 | OMIM:613686 MouseDO NCBI chr 9:86,897,590...86,902,494
Ensembl chr 9:86,897,590...86,901,970
JBrowse link
G Tbx6 T-box 6 ISO ClinVar Annotator: match by term: Costovertebral segmentation anomalies ClinVar PMID:25564734 PMID:25741868 PMID:28492532 PMID:30636772 PMID:31015262 More... NCBI chr 7:126,380,655...126,384,720
Ensembl chr 7:126,380,655...126,384,732
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 7:27,992,980...28,001,210
Ensembl chr 7:27,992,978...28,001,663
JBrowse link
G Plekhg2 pleckstrin homology domain containing, family G (with RhoGef domain) member 2 ISO ClinVar Annotator: match by term: Spondylocostal dysostosis 1, autosomal recessive ClinVar PMID:25741868 PMID:28492532 NCBI chr 7:28,059,028...28,072,818
Ensembl chr 7:28,059,029...28,072,024
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 9:86,897,590...86,902,494
Ensembl chr 9:86,897,590...86,901,970
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 chr11:69,009,778...69,014,880
Ensembl chr11:69,011,230...69,014,881
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 chr 5:140,593,096...140,601,300
Ensembl chr 5:140,593,075...140,601,300
JBrowse link
G Mesp2 mesoderm posterior 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 7:79,460,475...79,463,179
Ensembl chr 7:79,460,475...79,463,187
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 9:86,897,590...86,902,494
Ensembl chr 9:86,897,590...86,901,970
JBrowse link
G Tbx6 T-box 6 ISO ClinVar Annotator: match by term: Spondylocostal dysostosis 2, autosomal recessive ClinVar PMID:20503311 PMID:23335591 NCBI chr 7:126,380,655...126,384,720
Ensembl chr 7:126,380,655...126,384,732
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 chr 5:140,688,222...140,705,134
Ensembl chr 5:140,690,766...140,705,134
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 chr 5:140,593,096...140,601,300
Ensembl chr 5:140,593,075...140,601,300
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 chr11:69,009,778...69,014,880
Ensembl chr11:69,011,230...69,014,881
JBrowse link
spondylocostal dysostosis 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 4930451I11Rik RIKEN cDNA 4930451I11 gene 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 7:126,429,640...126,430,712
Ensembl chr 7:126,429,640...126,430,811
JBrowse link
G AI467606 expressed sequence AI467606 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 7:126,689,952...126,693,221
Ensembl chr 7:126,690,531...126,693,158
JBrowse link
G Aldoa aldolase A, fructose-bisphosphate ISO ClinVar Annotator: match by term: SCOLIOSIS, CONGENITAL, WITH OR WITHOUT RIB ANOMALIES ClinVar PMID:25741868 NCBI chr 7:126,394,406...126,399,537
Ensembl chr 7:126,394,406...126,399,923
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 7:126,545,159...126,548,754
Ensembl chr 7:126,544,739...126,548,754
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 7:126,575,630...126,579,671
Ensembl chr 7:126,575,086...126,579,673
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 7:126,571,792...126,575,575
Ensembl chr 7:126,570,894...126,575,270
JBrowse link
G Coro1a coronin, actin binding protein 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 7:126,298,946...126,303,925
Ensembl chr 7:126,298,945...126,306,959
JBrowse link
G Doc2a double C2, 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 7:126,446,525...126,451,877
Ensembl chr 7:126,446,588...126,451,877
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 7:126,365,586...126,374,817
Ensembl chr 7:126,365,506...126,374,821
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 7:126,461,155...126,464,549
Ensembl chr 7:126,461,144...126,464,549
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 7:126,450,756...126,461,544
Ensembl chr 7:126,450,132...126,461,549
JBrowse link
G Kctd13 potassium channel tetramerisation 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 7:126,528,051...126,544,781
Ensembl chr 7:126,528,051...126,544,803
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 7:126,626,901...126,641,639
Ensembl chr 7:126,626,901...126,641,643
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 7:126,358,798...126,364,988
Ensembl chr 7:126,358,773...126,364,991
JBrowse link
G Maz MYC-associated zinc finger protein (purine-binding transcription factor) 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 7:126,621,306...126,626,177
Ensembl chr 7:126,621,302...126,626,209
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 7:126,586,036...126,613,729
Ensembl chr 7:126,586,032...126,613,793
JBrowse link
G Pagr1a PAXIP1 associated glutamate rich protein 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 7:126,614,223...126,616,524
Ensembl chr 7:126,614,205...126,616,524
Ensembl chr 7:126,614,205...126,616,524
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 7:126,385,038...126,391,729
Ensembl chr 7:126,385,038...126,391,668
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 7:126,616,707...126,620,800
Ensembl chr 7:126,616,703...126,620,383
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 7:126,706,942...126,721,201
Ensembl chr 7:126,706,286...126,721,398
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 9:86,897,590...86,902,494
Ensembl chr 9:86,897,590...86,901,970
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 7:126,549,665...126,569,782
Ensembl chr 7:126,549,735...126,569,778
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 7:126,731,404...126,743,785
Ensembl chr 7:126,731,404...126,736,995
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 7:126,464,848...126,485,468
Ensembl chr 7:126,464,850...126,483,875
JBrowse link
G Tbx6 T-box 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 7:126,380,655...126,384,720
Ensembl chr 7:126,380,655...126,384,732
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 7:126,413,213...126,429,391
Ensembl chr 7:126,396,840...126,429,391
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 7:126,485,391...126,527,993
Ensembl chr 7:126,485,343...126,522,089
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 7:126,376,135...126,379,682
Ensembl chr 7:126,376,127...126,379,686
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 7:126,649,328...126,651,847
Ensembl chr 7:126,649,328...126,686,500
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 9:86,897,590...86,902,494
Ensembl chr 9:86,897,590...86,901,970
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 7:27,992,980...28,001,210
Ensembl chr 7:27,992,978...28,001,663
JBrowse link
G Hes7 hes family bHLH transcription factor 7 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr11:69,009,778...69,014,880
Ensembl chr11:69,011,230...69,014,881
JBrowse link
G Lfng LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 5:140,593,096...140,601,300
Ensembl chr 5:140,593,075...140,601,300
JBrowse link
G Mesp2 mesoderm posterior 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 7:79,460,475...79,463,179
Ensembl chr 7:79,460,475...79,463,187
JBrowse link
G Ripply2 ripply transcriptional repressor 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 9:86,897,590...86,902,494
Ensembl chr 9:86,897,590...86,901,970
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 IAGP MouseDO NCBI chr15:97,873,483...97,902,525
Ensembl chr15:97,873,483...97,902,576
JBrowse link
G Ddr2 discoidin domain receptor family, member 2 ISO ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia ClinVar NCBI chr 1:169,799,874...169,938,525
Ensembl chr 1:169,799,876...169,938,331
JBrowse link
G Mmp13 matrix metallopeptidase 13 ISO ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia ClinVar NCBI chr 9:7,272,514...7,283,333
Ensembl chr 9:7,272,514...7,283,331
JBrowse link
G Rpl13 ribosomal protein L13 ISO ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia ClinVar PMID:23956136 PMID:25741868 PMID:31630789 NCBI chr 8:123,829,089...123,831,983
Ensembl chr 8:123,829,089...123,831,983
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 UDP-Gal:betaGal beta 1,3-galactosyltransferase, polypeptide 6 ISO ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia with joint laxity ClinVar PMID:25741868 PMID:28492532 NCBI chr 4:156,073,923...156,077,135
Ensembl chr 4:156,073,923...156,077,106
JBrowse link
G Polr1c polymerase (RNA) I polypeptide C ISO ClinVar Annotator: match by term: Primary bone dysplasia with multiple joint dislocations ClinVar PMID:35325049 NCBI chr17:46,554,846...46,558,971
Ensembl chr17:46,554,846...46,558,980
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 chr17:45,874,844...45,878,597
Ensembl chr17:45,874,800...45,878,597
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 UDP-Gal:betaGal beta 1,3-galactosyltransferase, polypeptide 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 4:156,073,923...156,077,135
Ensembl chr 4:156,073,923...156,077,106
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 4:156,077,300...156,098,067
Ensembl chr 4:156,077,329...156,098,067
JBrowse link
G Tnfrsf4 tumor necrosis factor 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 4:156,098,049...156,101,070
Ensembl chr 4:156,098,300...156,101,069
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 7:126,626,901...126,641,639
Ensembl chr 7:126,626,901...126,641,643
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 6:84,595,468...85,046,524
Ensembl chr 6:84,595,469...85,046,495
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 chr12:8,997,929...9,022,028
Ensembl chr12:8,997,929...9,022,028
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 chr 8:46,387,980...46,428,290
Ensembl chr 8:46,406,643...46,428,477
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 chr 8:46,428,551...46,449,995
Ensembl chr 8:46,428,565...46,449,995
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 NCBI chr 8:95,328,569...95,386,905
Ensembl chr 8:95,328,565...95,386,903
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-acetylneuraminic acid synthase (sialic acid 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 4:46,489,319...46,503,439
Ensembl chr 4:46,489,248...46,503,632
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 4:46,505,072...46,536,148
Ensembl chr 4:46,493,781...46,536,141
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 OMIM
ClinVar
PMID:37352860 NCBI chr 8:35,932,419...35,962,687
Ensembl chr 8:35,932,407...35,963,350
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 chr 8:123,829,089...123,831,983
Ensembl chr 8:123,829,089...123,831,983
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 9:45,924,099...46,135,492
Ensembl chr 9:45,924,118...46,135,492
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 9:7,272,514...7,283,333
Ensembl chr 9:7,272,514...7,283,331
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
IAGP
CTD Direct Evidence: marker/mechanism
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
OMIM
CTD
ClinVar
MouseDO
PMID:9536098 PMID:9714015 PMID:9771708 PMID:16199547 PMID:17576681 More... NCBI chr19:32,573,072...32,644,587
Ensembl chr19:32,573,190...32,644,587
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 2:130,495,955...130,506,549
Ensembl chr 2:130,495,880...130,506,579
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 chr15:76,510,437...76,524,129
Ensembl chr15:76,510,202...76,524,158
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 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 chr15:97,873,483...97,902,525
Ensembl chr15:97,873,483...97,902,576
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 1:71,624,632...71,692,439
Ensembl chr 1:71,624,679...71,692,359
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 chr 5:114,760,213...114,796,497
Ensembl chr 5:114,760,213...114,796,482
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 (sulfate transporter), 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 chr18:61,329,926...61,344,668
Ensembl chr18:61,325,991...61,344,684
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 family, member 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome
OMIM
CTD
ClinVar
PMID:8434618 PMID:8818447 PMID:19110212 PMID:20223752 PMID:25741868 More... NCBI chr 1:169,799,874...169,938,525
Ensembl chr 1:169,799,876...169,938,331
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 chr 5:150,876,072...150,917,282
Ensembl chr 5:150,876,072...150,917,282
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 channel, voltage-dependent, P/Q type, alpha 1A subunit ISO ClinVar Annotator: match by term: Subependymal giant-cell astrocytoma ClinVar PMID:25741868 PMID:28492532 NCBI chr 8:85,065,257...85,366,880
Ensembl chr 8:85,065,268...85,366,875
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 chr14:73,430,298...73,563,446
Ensembl chr14:73,421,113...73,563,262
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 chr18:84,225,826...84,612,815
Ensembl chr18:84,146,152...84,607,850
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 chr10:128,716,393...128,727,587
Ensembl chr10:128,718,164...128,727,587
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, sub-family 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:72,760,203...72,782,140
Ensembl chr  X:72,760,203...72,782,140
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:72,527,207...72,539,542
Ensembl chr  X:72,527,208...72,539,539
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, mitochondrion-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:47,563,821...47,602,440
Ensembl chr  X:47,563,821...47,602,440
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:47,602,540...47,619,112
Ensembl chr  X:47,608,162...47,619,109
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:165,171,503...165,223,704
Ensembl chr  X:165,173,029...165,223,700
JBrowse link
G Trappc2 trafficking protein particle complex 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:165,223,747...165,236,136
Ensembl chr  X:165,223,570...165,236,136
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18296
    disease of anatomical entity 15613
      musculoskeletal system disease 7906
        bone disease 3871
          spinal disease 1090
            Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy 1
            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 + 81
            Spinal Neoplasms 0
            Spinal Osteochondrosis + 2
            Spinal Osteophytosis + 1
            Spondylocamptodactyly 0
            X-linked spondyloepiphyseal dysplasia tarda 2
            achondrogenesis type IA 42
            acromesomelic dysplasia, Maroteaux type 87
            atelosteogenesis + 2
            autosomal dominant osteopetrosis 2 1
            chronic recurrent multifocal osteomyelitis 8
            dropped head syndrome 0
            high grade glioma + 673
            lethal congenital contracture syndrome + 13
            spinal chordoma + 0
            spondylitis + 45
            spondylocostal dysostosis + 35
            spondyloepimetaphyseal dysplasia + 90
            spondylosis + 2
            vertebral hypersegmentation and orofacial anomalies 1
Path 2
Term Annotations click to browse term
  disease 18296
    disease of anatomical entity 15613
      musculoskeletal system disease 7906
        connective tissue disease 5364
          bone disease 3871
            spinal disease 1090
              Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy 1
              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 + 81
              Spinal Neoplasms 0
              Spinal Osteochondrosis + 2
              Spinal Osteophytosis + 1
              Spondylocamptodactyly 0
              X-linked spondyloepiphyseal dysplasia tarda 2
              achondrogenesis type IA 42
              acromesomelic dysplasia, Maroteaux type 87
              atelosteogenesis + 2
              autosomal dominant osteopetrosis 2 1
              chronic recurrent multifocal osteomyelitis 8
              dropped head syndrome 0
              high grade glioma + 673
              lethal congenital contracture syndrome + 13
              spinal chordoma + 0
              spondylitis + 45
              spondylocostal dysostosis + 35
              spondyloepimetaphyseal dysplasia + 90
              spondylosis + 2
              vertebral hypersegmentation and orofacial anomalies 1
paths to the root