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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:Nerve Tissue Neoplasms
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Accession:DOID:9002573 term browser browse the term
Definition:Neoplasms composed of nerve tissue. This concept does not refer to neoplasms located in the nervous system or its component nerves.
Synonyms:exact_synonym: Nerve Tissue Neoplasm;   Nervous Tissue Neoplasm;   Nervous Tissue Neoplasms
 primary_id: MESH:D009380
 alt_id: RDO:0006101



show annotations for term's descendants           Sort by:
Nerve Tissue Neoplasms term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eno2 enolase 2 IEP RGD PMID:17537454 RGD:2293746 NCBI chr 4:157,572,085...157,580,971
Ensembl chr 4:157,572,088...157,580,980
JBrowse link
acoustic neuroma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Artn artemin ISO mRNA:increased expression:peripheral nerve: RGD PMID:19937367 RGD:8655552 NCBI chr 5:131,458,596...131,470,193
Ensembl chr 5:131,464,756...131,468,025
JBrowse link
G Bdnf brain-derived neurotrophic factor ISO mRNA:increased expression:peripheral nerve: RGD PMID:19937367 RGD:8655552 NCBI chr 3:96,165,042...96,215,621
Ensembl chr 3:96,165,042...96,215,615
JBrowse link
G Cav1 caveolin 1 ISO RGD PMID:20881564 RGD:8661782 NCBI chr 4:45,640,624...45,673,708
Ensembl chr 4:45,634,918...45,673,705
JBrowse link
G Cdkn1a cyclin-dependent kinase inhibitor 1A ISO mRNA,protein:decreased expression:myelinated nerve: RGD PMID:20600642 RGD:8661792 NCBI chr20:7,149,177...7,159,727
Ensembl chr20:7,149,217...7,159,585
JBrowse link
G Cyp2e1 cytochrome P450, family 2, subfamily e, polypeptide 1 ISO DNA:snp:promoter:c.-1053C>T (human) RGD PMID:12540498 RGD:1358568 NCBI chr 1:195,840,330...195,850,728
Ensembl chr 1:195,840,058...195,864,023
JBrowse link
G Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit susceptibility ISO DNA:missense mutation:cds:p.D312N (rs1799793) (human) RGD PMID:20150366 RGD:5688735 NCBI chr 1:79,033,342...79,047,102
Ensembl chr 1:79,033,326...79,047,102
JBrowse link
G Fgfr1 Fibroblast growth factor receptor 1 disease_progression ISO RGD PMID:15354013 RGD:11567268 NCBI chr16:66,491,930...66,547,161
Ensembl chr16:66,494,042...66,547,350
JBrowse link
G Gdnf glial cell derived neurotrophic factor ISO mRNA:increased expression:peripheral nerve: RGD PMID:19937367 RGD:8655552 NCBI chr 2:56,894,022...56,919,935
Ensembl chr 2:56,895,010...56,917,209
JBrowse link
G Igf1 insulin-like growth factor 1 susceptibility ISO protein:increased expression:serum: RGD PMID:21788435 RGD:8548833 NCBI chr 7:22,282,895...22,361,972
Ensembl chr 7:22,282,930...22,359,296
JBrowse link
G Igfbp3 insulin-like growth factor binding protein 3 susceptibility ISO protein:increased expression:serum: RGD PMID:21788435 RGD:8548833 NCBI chr14:82,056,347...82,064,083
Ensembl chr14:82,056,347...82,064,083
JBrowse link
G Nf2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor ISO protein:decreased expression:myelinated nerve:
ClinVar Annotator: match by term: Acoustic neuroma
ClinVar
RGD
PMID:8081368 PMID:8757035 PMID:12118253 PMID:25741868 PMID:28492532 More... RGD:8661792 NCBI chr14:79,627,399...79,710,709
Ensembl chr14:79,627,399...79,710,667
JBrowse link
G Vegfa vascular endothelial growth factor A ISO RGD PMID:14660915 RGD:8547959 NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641
JBrowse link
astroblastoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mir542 microRNA 542 disease_progression ISO RGD PMID:26286747 RGD:13782052 NCBI chr  X:132,802,623...132,802,701
Ensembl chr  X:132,802,623...132,802,701
JBrowse link
G Pik3r1 phosphoinositide-3-kinase regulatory subunit 1 severity ISO RGD PMID:26956052 PMID:26286747 RGD:11343921, RGD:13782052 NCBI chr 2:32,878,942...32,963,668
Ensembl chr 2:32,882,032...32,963,631
JBrowse link
G Pole DNA polymerase epsilon, catalytic subunit ISO ClinVar Annotator: match by term: Neuroepithelial neoplasm ClinVar PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29987844 NCBI chr12:46,345,420...46,393,984
Ensembl chr12:46,345,420...46,393,939
JBrowse link
astroblastoma, MN1-altered term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atm ATM serine/threonine kinase ISO ClinVar Annotator: match by term: Astroblastoma, MN1-altered ClinVar PMID:17344846 PMID:20305132 PMID:25741868 PMID:25980754 PMID:26206375 More... NCBI chr 8:53,828,741...53,932,773
Ensembl chr 8:53,831,093...53,932,437
JBrowse link
G C8h11orf65 similar to human chromosome 11 open reading frame 65 ISO ClinVar Annotator: match by term: Astroblastoma, MN1-altered ClinVar PMID:17344846 PMID:20305132 PMID:25741868 PMID:25980754 PMID:26206375 More... NCBI chr 8:53,796,033...53,825,277
Ensembl chr 8:53,796,366...53,824,748
JBrowse link
G Tsc2 TSC complex subunit 2 ISO ClinVar Annotator: match by term: Astroblastoma, MN1-altered ClinVar PMID:25741868 PMID:28492532 NCBI chr10:13,621,135...13,655,773
Ensembl chr10:13,621,136...13,655,951
JBrowse link
Carcinoid Tumor term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alb albumin ISO protein:decreased expression:serum: RGD PMID:975003 RGD:11036087 NCBI chr14:17,607,397...17,622,814
Ensembl chr14:17,607,381...17,622,836
JBrowse link
G Eno2 enolase 2 ISO RGD PMID:17345775 RGD:2293739 NCBI chr 4:157,572,085...157,580,971
Ensembl chr 4:157,572,088...157,580,980
JBrowse link
G Men1 menin 1 ISO DNA:loss of heterozygosity:lung:PYGM,D11S449,D11S906(human) RGD PMID:16465412 RGD:2317351 NCBI chr 1:203,638,905...203,644,871
Ensembl chr 1:203,639,000...203,644,871
JBrowse link
G Mgmt O-6-methylguanine-DNA methyltransferase ISO DNA:hypermethylation:promoter (human) RGD PMID:12584572 RGD:2317635 NCBI chr 1:191,710,980...191,937,760
Ensembl chr 1:191,710,930...191,937,756
JBrowse link
G Mir10a microRNA 10a ISO CTD Direct Evidence: marker/mechanism CTD PMID:25105010 NCBI chr10:81,283,171...81,283,280
Ensembl chr10:81,283,171...81,283,280
JBrowse link
G Mir127 microRNA 127 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25105010 NCBI chr 6:128,546,215...128,546,311
Ensembl chr 6:128,546,215...128,546,311
JBrowse link
G Mir136 microRNA 136 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25105010 NCBI chr 6:128,549,096...128,549,177
Ensembl chr 6:128,549,096...128,549,177
JBrowse link
G Mir146a microRNA 146a ISO CTD Direct Evidence: marker/mechanism CTD PMID:25105010 NCBI chr10:27,848,516...27,848,610
Ensembl chr10:27,848,516...27,848,610
JBrowse link
G Mir154 microRNA 154 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25105010 NCBI chr 6:128,752,947...128,753,030
Ensembl chr 6:128,752,947...128,753,030
JBrowse link
G Mir155 microRNA 155 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25105010 NCBI chr11:23,774,654...23,774,718
Ensembl chr11:23,774,654...23,774,718
JBrowse link
G Mir193a microRNA 193a ISO CTD Direct Evidence: marker/mechanism CTD PMID:25105010 NCBI chr10:64,672,343...64,672,454
Ensembl chr10:64,672,343...64,672,454
JBrowse link
G Mir222 microRNA 222 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25105010 NCBI chr  X:3,428,904...3,429,006
Ensembl chr  X:3,428,904...3,429,006
JBrowse link
G Mir224 microRNA 224 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25105010 NCBI chr  X:150,065,088...150,065,169
Ensembl chr  X:150,065,088...150,065,169
JBrowse link
G Mir30a microRNA 30a ISO CTD Direct Evidence: marker/mechanism CTD PMID:25105010 NCBI chr 9:25,737,600...25,737,670
Ensembl chr 9:25,737,600...25,737,670
JBrowse link
G Mir34b microRNA 34b ISO CTD Direct Evidence: marker/mechanism CTD PMID:25105010 NCBI chr 8:51,410,244...51,410,327
Ensembl chr 8:51,410,244...51,410,327
JBrowse link
G Mir34c microRNA 34c ISO CTD Direct Evidence: marker/mechanism CTD PMID:25105010 NCBI chr 8:51,409,726...51,409,802
Ensembl chr 8:51,409,726...51,409,802
JBrowse link
G Mir370 microRNA 370 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25105010 NCBI chr 6:128,572,257...128,572,335
Ensembl chr 6:128,572,257...128,572,335
JBrowse link
G Mir409 microRNA 409 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25105010 NCBI chr 6:128,757,780...128,757,856
Ensembl chr 6:128,757,779...128,757,858
JBrowse link
G Mir410 microRNA 410 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25105010 NCBI chr 6:128,758,358...128,758,433
Ensembl chr 6:128,758,354...128,758,434
JBrowse link
G Mir487b microRNA 487b ISO CTD Direct Evidence: marker/mechanism CTD PMID:25105010 NCBI chr 6:128,741,485...128,741,566
Ensembl chr 6:128,741,485...128,741,566
JBrowse link
G Mir494 microRNA 494 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25105010 NCBI chr 6:128,728,710...128,728,792
Ensembl chr 6:128,728,709...128,728,793
JBrowse link
G Reg1a regenerating family member 1 alpha ISO associated with Hypergastrinemia;DNA:missense mutations:cds:multiple (human) RGD PMID:10348814 RGD:9850135 NCBI chr 4:110,892,451...110,895,115
Ensembl chr 4:110,892,453...110,895,570
JBrowse link
cavernous sinus meningioma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dhfr dihydrofolate reductase ISO ClinVar Annotator: match by term: Cavernous sinus meningioma ClinVar PMID:25741868 PMID:26467025 PMID:28492532 PMID:31371350 PMID:31627758 NCBI chr 2:23,585,876...23,611,199
Ensembl chr 2:23,586,031...23,613,713
JBrowse link
G Kmt2d lysine methyltransferase 2D ISO ClinVar Annotator: match by term: Cavernous sinus meningioma ClinVar PMID:21671394 PMID:22126750 PMID:28492532 NCBI chr 7:129,980,744...130,022,088
Ensembl chr 7:129,962,887...130,020,325
JBrowse link
G Msh3 mutS homolog 3 ISO ClinVar Annotator: match by term: Cavernous sinus meningioma ClinVar PMID:25741868 PMID:26467025 PMID:28492532 PMID:31371350 PMID:31627758 NCBI chr 2:23,444,326...23,585,777 JBrowse link
cerebellar medulloblastoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Msh6 mutS homolog 6 ISO ClinVar Annotator: match by term: Cerebellar medulloblastoma ClinVar NCBI chr 6:6,562,631...6,579,995
Ensembl chr 6:6,562,632...6,579,956
JBrowse link
chromosome 13q14 deletion syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acod1 aconitate decarboxylase 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:79,871,819...79,881,101
Ensembl chr15:79,871,827...79,880,529
JBrowse link
G Alg11 ALG11, alpha-1,2-mannosyltransferase ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr16:69,940,540...69,951,617
Ensembl chr16:69,944,349...69,951,601
JBrowse link
G Arl11 ARF like GTPase 11 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:35,483,330...35,485,579
Ensembl chr15:35,480,018...35,496,596
JBrowse link
G Atp7b ATPase copper transporting beta ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr16:69,952,286...70,024,404
Ensembl chr16:69,951,778...70,023,636
JBrowse link
G Bora bora, aurora kinase A activator ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:75,797,624...75,835,599
Ensembl chr15:75,797,891...75,821,322
JBrowse link
G C15h13orf42 similar to human chromosome 13 open reading frame 42 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:36,674,840...36,701,304
Ensembl chr15:36,677,527...36,701,211
JBrowse link
G Cab39l calcium binding protein 39-like ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:33,606,588...33,710,518
Ensembl chr15:33,606,694...33,743,545
JBrowse link
G Ccdc70 coiled-coil domain containing 70 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr16:70,037,309...70,042,401
Ensembl chr16:70,037,309...70,042,339
JBrowse link
G Cdadc1 cytidine and dCMP deaminase domain containing 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:33,726,590...33,755,611
Ensembl chr15:33,723,435...33,755,576
JBrowse link
G Ckap2 cytoskeleton associated protein 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr16:69,839,668...69,864,852
Ensembl chr16:69,839,630...69,864,913
JBrowse link
G Cln5 CLN5, intracellular trafficking protein ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:79,893,573...79,903,438
Ensembl chr15:79,893,548...79,903,438
Ensembl chr 2:79,893,548...79,903,438
JBrowse link
G Cnmd chondromodulin ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:55,041,548...55,066,297
Ensembl chr15:55,041,561...55,066,297
JBrowse link
G Commd6 COMM domain containing 6 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:78,467,333...78,474,382
Ensembl chr15:78,467,804...78,474,382
JBrowse link
G Cysltr2 cysteinyl leukotriene receptor 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:48,189,476...48,228,750
Ensembl chr15:48,189,073...48,304,136
JBrowse link
G Dach1 dachshund family transcription factor 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:74,528,122...74,909,811
Ensembl chr15:74,529,208...74,909,922
JBrowse link
G Diaph3 diaphanous-related formin 3 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:62,543,375...63,013,060
Ensembl chr15:62,543,375...63,012,975
JBrowse link
G Dis3 DIS3 homolog, exosome endoribonuclease and 3'-5' exoribonuclease ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:75,820,040...75,850,450
Ensembl chr15:75,823,436...75,850,642
JBrowse link
G Dleu7 deleted in lymphocytic leukemia, 7 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:36,479,533...36,495,730
Ensembl chr15:36,479,534...36,495,697
JBrowse link
G Ebpl EBP like ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:35,508,074...35,531,472
Ensembl chr15:35,508,074...35,531,472
JBrowse link
G Ednrb endothelin receptor type B ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:80,640,839...80,672,115
Ensembl chr15:80,643,043...80,672,115
JBrowse link
G Fam124a family with sequence similarity 124 member A ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:36,799,836...36,855,062
Ensembl chr15:36,799,877...36,853,683
JBrowse link
G Fbxl3 F-box and leucine-rich repeat protein 3 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:79,906,795...79,926,678
Ensembl chr15:79,906,795...79,927,867
JBrowse link
G Fndc3a fibronectin type III domain containing 3a ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:47,689,909...47,867,354
Ensembl chr15:47,689,919...47,866,784
JBrowse link
G Ints6 integrator complex subunit 6 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:36,908,966...37,048,043
Ensembl chr15:36,933,724...37,021,527
JBrowse link
G Itm2b integral membrane protein 2B ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:48,545,998...48,568,904
Ensembl chr15:48,546,001...48,568,917
JBrowse link
G Kcnrg potassium channel regulator ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:35,774,456...35,779,409
Ensembl chr15:35,774,326...35,779,415
JBrowse link
G Kctd12 potassium channel tetramerization domain containing 12 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:79,800,078...79,806,017
Ensembl chr15:79,801,191...79,806,282
JBrowse link
G Klf12 KLF transcription factor 12 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:76,628,778...77,062,000
Ensembl chr15:76,637,654...77,062,056
JBrowse link
G Klf5 KLF transcription factor 5 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:76,060,320...76,079,445
Ensembl chr15:76,064,258...76,079,445
JBrowse link
G Klhl1 kelch-like family member 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:72,698,191...73,142,726
Ensembl chr15:72,699,094...73,142,594
JBrowse link
G Kpna3 karyopherin subunit alpha 3 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:35,536,310...35,610,066
Ensembl chr15:35,536,316...35,610,419
JBrowse link
G Lmo7 LIM domain 7 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:78,566,999...78,769,833
Ensembl chr15:78,567,023...78,769,783
JBrowse link
G Lpar6 lysophosphatidic acid receptor 6 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:48,416,548...48,418,357
Ensembl chr15:48,416,544...48,422,331
JBrowse link
G Med4 mediator complex subunit 4 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:48,696,542...48,706,818
Ensembl chr15:48,696,511...48,706,820
JBrowse link
G Mycbp2 MYC binding protein 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:79,937,354...80,175,432
Ensembl chr15:79,937,354...80,175,498
JBrowse link
G Mzt1 mitotic spindle organizing protein 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:75,787,281...75,797,589
Ensembl chr15:75,786,994...75,797,589
JBrowse link
G Ndfip2 Nedd4 family interacting protein 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:82,032,366...82,087,043
Ensembl chr15:82,032,366...82,086,317
JBrowse link
G Nek3 NIMA-related kinase 3 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr16:69,867,020...69,892,477
Ensembl chr16:69,867,047...69,892,508
JBrowse link
G Nek5 NIMA-related kinase 5 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr16:69,895,414...69,938,668
Ensembl chr16:69,895,422...69,939,429
JBrowse link
G Nudt15 nudix hydrolase 15 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:48,707,776...48,713,847
Ensembl chr15:48,709,700...48,747,363
JBrowse link
G Obi1 ORC ubiquitin ligase 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:81,269,413...81,308,734
Ensembl chr15:81,269,416...81,308,734
JBrowse link
G Olfm4 olfactomedin 4 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:55,385,100...55,429,687
Ensembl chr15:55,407,148...55,429,681
JBrowse link
G Pcdh17 protocadherin 17 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:60,222,088...60,316,172
Ensembl chr15:60,222,004...60,313,999
JBrowse link
G Pcdh20 protocadherin 20 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:64,425,534...64,431,790
Ensembl chr15:64,425,534...64,431,790
JBrowse link
G Pcdh8 protocadherin 8 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:55,198,470...55,203,039
Ensembl chr15:55,198,459...55,205,872
JBrowse link
G Pcdh9 protocadherin 9 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:69,340,108...70,237,531
Ensembl chr15:69,340,645...70,237,538
JBrowse link
G Phf11 PHD finger protein 11 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:33,390,290...33,414,647
Ensembl chr15:33,390,292...33,413,009
JBrowse link
G Pibf1 progesterone immunomodulatory binding factor 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:75,850,389...76,019,711
Ensembl chr15:75,850,624...76,019,712
JBrowse link
G Pou4f1 POU class 4 homeobox 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:81,253,714...81,260,057
Ensembl chr15:81,257,781...81,259,728
JBrowse link
G Prr20e proline rich 20E ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr 4:121,566,632...121,574,734
Ensembl chr 4:121,571,797...121,573,140
JBrowse link
G Rb1 RB transcriptional corepressor 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:48,371,295...48,502,473
Ensembl chr15:48,371,296...48,502,302
JBrowse link
G Rbm26 RNA binding motif protein 26 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:81,884,783...81,964,245
Ensembl chr15:81,887,219...81,964,118
JBrowse link
G Rcbtb1 RCC1 and BTB domain containing protein 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:33,319,586...33,362,421
Ensembl chr15:33,319,586...33,365,302
JBrowse link
G Rcbtb2 RCC1 and BTB domain containing protein 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:48,319,809...48,364,441
Ensembl chr15:48,323,866...48,383,750
JBrowse link
G Rnaseh2b ribonuclease H2, subunit B ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:36,541,200...36,592,016
Ensembl chr15:36,541,218...36,584,118
JBrowse link
G Scel sciellin ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:80,339,661...80,456,546
Ensembl chr15:80,339,951...80,456,372
JBrowse link
G Serpine3 serpin family E member 3 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:36,908,816...36,931,825
Ensembl chr15:36,907,131...36,933,150
JBrowse link
G Setdb2 SET domain bifurcated histone lysine methyltransferase 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:33,553,657...33,606,586
Ensembl chr15:33,453,952...33,606,470
JBrowse link
G Slain1 SLAIN motif family, member 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:80,482,818...80,542,461
Ensembl chr15:80,482,367...80,542,350
JBrowse link
G Slitrk1 SLIT and NTRK-like family, member 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:85,723,252...85,727,290
Ensembl chr15:85,724,475...85,727,509
JBrowse link
G Slitrk6 SLIT and NTRK-like family, member 6 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:87,563,506...87,570,125
Ensembl chr15:87,563,322...87,570,393
JBrowse link
G Spry2 sprouty RTK signaling antagonist 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:82,692,291...82,697,408
Ensembl chr15:82,692,143...82,698,009
JBrowse link
G Spryd7 SPRY domain containing 7 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:35,707,185...35,727,704
Ensembl chr15:35,707,060...35,727,509
JBrowse link
G Sucla2 succinate-CoA ligase ADP-forming subunit beta ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:48,752,356...48,805,495
Ensembl chr15:48,752,312...48,805,138
JBrowse link
G Sugt1 SGT1 homolog, MIS12 kinetochore complex assembly cochaperone ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:54,991,419...55,032,244
Ensembl chr15:54,990,672...55,069,150
JBrowse link
G Tbc1d4 TBC1 domain family, member 4 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:78,256,030...78,434,168
Ensembl chr15:78,257,121...78,434,265
JBrowse link
G Tdrd3 tudor domain containing 3 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:63,340,531...63,497,208
Ensembl chr15:63,341,235...63,476,110
JBrowse link
G Thsd1 thrombospondin type 1 domain containing 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr16:69,771,408...69,804,844
Ensembl chr16:69,771,408...69,801,504
JBrowse link
G Trim13 tripartite motif-containing 13 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:35,733,548...35,772,676
Ensembl chr15:35,734,107...35,772,677
JBrowse link
G Uchl3 ubiquitin C-terminal hydrolase L3 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:78,485,304...78,527,355
Ensembl chr15:78,485,315...78,527,355
Ensembl chr 3:78,485,315...78,527,355
JBrowse link
G Vps36 vacuolar protein sorting 36 homolog ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr16:69,810,404...69,834,789
Ensembl chr16:69,808,193...69,834,810
JBrowse link
G Wdfy2 WD repeat and FYVE domain containing 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr15:37,083,842...37,209,559
Ensembl chr15:37,042,987...37,209,304
JBrowse link
chromosome 17q11.2 deletion syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rnf135 ring finger protein 135 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Chromosome 17q11.2 deletion syndrome, 1.4Mb | ClinVar Annotator: match by term: Macrocephaly, macrosomia, facial dysmorphism syndrome
CTD
ClinVar
PMID:17632510 PMID:21681106 PMID:25741868 PMID:27535533 PMID:28135719 More... NCBI chr10:65,170,560...65,189,791
Ensembl chr10:65,170,560...65,262,804
JBrowse link
craniopharyngioma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apc APC regulator of WNT signaling pathway ISO ClinVar Annotator: match by term: Craniopharyngioma ClinVar PMID:1316610 PMID:8162022 PMID:8381579 PMID:8381581 PMID:8395941 More... NCBI chr18:25,828,558...25,925,511
Ensembl chr18:25,864,222...25,922,696
JBrowse link
G Braf B-Raf proto-oncogene, serine/threonine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:24413733 NCBI chr 4:68,375,484...68,510,652
Ensembl chr 4:68,384,649...68,510,463
JBrowse link
G Ctnnb1 catenin beta 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Craniopharyngioma
CTD
ClinVar
PMID:9927029 PMID:10192393 PMID:23265383 PMID:24413733 PMID:25157968 More... NCBI chr 8:120,640,008...120,667,110
Ensembl chr 8:120,639,995...120,667,111
JBrowse link
G Nf1 neurofibromin 1 ISO ClinVar Annotator: match by term: Craniopharyngioma ClinVar PMID:25741868 PMID:28492532 NCBI chr10:64,306,027...64,539,112
Ensembl chr10:64,306,301...64,536,658
JBrowse link
G Pdgfra platelet derived growth factor receptor alpha disease_progression ISO RGD PMID:20190664 RGD:11080971 NCBI chr14:33,005,838...33,054,347
Ensembl chr14:33,005,839...33,054,335
JBrowse link
G Ptch1 patched 1 ISO ClinVar Annotator: match by term: Craniopharyngioma ClinVar PMID:25741868 PMID:26467025 PMID:28492532 PMID:29230040 NCBI chr17:1,542,705...1,607,730
Ensembl chr17:1,542,877...1,607,333
JBrowse link
G Sufu SUFU negative regulator of hedgehog signaling ISO ClinVar Annotator: match by term: Rathke's pouch tumor ClinVar PMID:25741868 PMID:28492532 PMID:29641532 NCBI chr 1:245,257,725...245,355,576
Ensembl chr 1:245,257,768...245,355,577
JBrowse link
G Tsc1 TSC complex subunit 1 ISO ClinVar Annotator: match by term: Craniopharyngioma | ClinVar Annotator: match by term: Rathke's pouch tumor ClinVar PMID:22161988 PMID:25741868 PMID:28492532 PMID:29684080 NCBI chr 3:11,969,547...12,018,591
Ensembl chr 3:11,979,729...12,015,674
JBrowse link
desmoplastic/nodular medulloblastoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Actr1a actin related protein 1A ISO ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma ClinVar PMID:12068298 NCBI chr 1:245,237,821...245,256,618
Ensembl chr 1:245,237,826...245,256,495
JBrowse link
G Arid2 AT-rich interaction domain 2 ISO ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma ClinVar PMID:26580448 NCBI chr 7:127,447,192...127,565,987
Ensembl chr 7:127,447,278...127,563,512
JBrowse link
G Arl3 ARF like GTPase 3 ISO ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma ClinVar PMID:12068298 NCBI chr 1:245,400,659...245,446,673
Ensembl chr 1:245,400,550...245,446,820
JBrowse link
G As3mt arsenite methyltransferase ISO ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma ClinVar PMID:12068298 NCBI chr 1:245,595,939...245,628,921
Ensembl chr 1:245,596,108...245,627,872
JBrowse link
G Atp5mk ATP synthase membrane subunit K ISO ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma ClinVar PMID:12068298 NCBI chr 1:245,973,910...245,980,702
Ensembl chr 1:245,973,914...245,980,761
Ensembl chr10:245,973,914...245,980,761
JBrowse link
G Borcs7 BLOC-1 related complex subunit 7 ISO ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma ClinVar PMID:12068298 NCBI chr 1:245,564,347...245,578,182
Ensembl chr 1:245,564,369...245,579,343
JBrowse link
G C1h10orf95 similar to human chromosome 10 open reading frame 95 ISO ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma ClinVar PMID:12068298 NCBI chr 1:245,210,228...245,212,080
Ensembl chr 1:245,210,973...245,211,602
JBrowse link
G Calhm1 calcium homeostasis modulator 1 ISO ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma ClinVar PMID:12068298 NCBI chr 1:246,030,269...246,032,988
Ensembl chr 1:246,030,269...246,032,988
JBrowse link
G Calhm2 calcium homeostasis modulator family member 2 ISO ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma ClinVar PMID:12068298 NCBI chr 1:246,022,324...246,028,050
Ensembl chr 1:246,022,324...246,028,218
JBrowse link
G Calhm3 calcium homeostasis modulator 3 ISO ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma ClinVar PMID:12068298 NCBI chr 1:246,043,258...246,048,259
Ensembl chr 1:246,043,258...246,048,259
JBrowse link
G Cfap43 cilia and flagella associated protein 43 ISO ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma ClinVar PMID:12068298 NCBI chr 1:246,625,259...246,712,438
Ensembl chr 1:246,625,262...246,712,443
JBrowse link
G Cfap58 cilia and flagella associated protein 58 ISO ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma ClinVar PMID:12068298 NCBI chr 1:246,802,691...246,911,363
Ensembl chr 1:246,802,665...246,911,374
JBrowse link
G Cnnm2 cyclin and CBS domain divalent metal cation transport mediator 2 ISO ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma ClinVar PMID:12068298 NCBI chr 1:245,643,682...245,769,542
Ensembl chr 1:245,643,768...245,763,286
JBrowse link
G Col17a1 collagen type XVII alpha 1 chain ISO ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma ClinVar PMID:12068298 NCBI chr 1:246,530,589...246,577,559
Ensembl chr 1:246,531,367...246,577,632
JBrowse link
G Ctcf CCCTC-binding factor ISO ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma ClinVar NCBI chr19:33,521,726...33,571,124
Ensembl chr19:33,529,319...33,571,123
JBrowse link
G Cyp17a1 cytochrome P450, family 17, subfamily a, polypeptide 1 ISO ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma ClinVar PMID:12068298 NCBI chr 1:245,535,462...245,543,148
Ensembl chr 1:245,535,462...245,541,573
JBrowse link
G Gsto1 glutathione S-transferase omega 1 ISO ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma ClinVar PMID:12068298 NCBI chr 1:246,721,089...246,731,228
Ensembl chr 1:246,721,221...246,731,468
JBrowse link
G Gsto2 glutathione S-transferase omega 2 ISO ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma ClinVar PMID:12068298 NCBI chr 1:246,731,314...246,757,592
Ensembl chr 1:246,732,089...246,753,866
JBrowse link
G Ina internexin neuronal intermediate filament protein, alpha ISO ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma ClinVar PMID:12068298 NCBI chr 1:245,896,775...245,908,330
Ensembl chr 1:245,896,775...245,908,330
JBrowse link
G Itprip inositol 1,4,5-trisphosphate receptor interacting protein ISO ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma ClinVar PMID:12068298 NCBI chr 1:246,762,804...246,786,379
Ensembl chr 1:246,762,472...246,786,408
JBrowse link
G Mfsd13a major facilitator superfamily domain containing 13A ISO ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma ClinVar PMID:12068298 NCBI chr 1:245,216,610...245,236,314
Ensembl chr 1:245,217,067...245,236,767
JBrowse link
G Neurl1 neuralized E3 ubiquitin protein ligase 1 ISO ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma ClinVar PMID:12068298 NCBI chr 1:246,066,830...246,152,890
Ensembl chr 1:246,067,100...246,152,903
JBrowse link
G Nt5c2 5'-nucleotidase, cytosolic II ISO ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma ClinVar PMID:12068298 NCBI chr 1:245,770,993...245,896,925
Ensembl chr 1:245,772,277...245,897,913
JBrowse link
G Pcgf6 polycomb group ring finger 6 ISO ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma ClinVar PMID:12068298 NCBI chr 1:245,925,354...245,944,964
Ensembl chr 1:245,925,360...245,944,914
JBrowse link
G Pdcd11 programmed cell death 11 ISO ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma ClinVar PMID:12068298 NCBI chr 1:245,980,840...246,021,999
Ensembl chr 1:245,980,880...246,021,999
JBrowse link
G Sfr1 SWI5-dependent homologous recombination repair protein 1 ISO ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma ClinVar PMID:12068298 NCBI chr 1:246,619,235...246,623,250
Ensembl chr 1:246,597,044...246,623,250
JBrowse link
G Sfxn2 sideroflexin 2 ISO ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma ClinVar PMID:12068298 NCBI chr 1:245,447,014...245,459,312
Ensembl chr 1:245,447,015...245,468,411
Ensembl chr 1:245,447,015...245,468,411
JBrowse link
G Sh3pxd2a SH3 and PX domains 2A ISO ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma ClinVar PMID:12068298 NCBI chr 1:246,153,660...246,359,806
Ensembl chr 1:246,160,502...246,360,166
JBrowse link
G Slk STE20-like kinase ISO ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma ClinVar PMID:12068298 NCBI chr 1:246,473,712...246,529,643
Ensembl chr 1:246,473,712...246,526,530
JBrowse link
G Sorcs3 sortilin-related VPS10 domain containing receptor 3 ISO ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma ClinVar PMID:12068298 NCBI chr 1:247,099,178...247,734,027
Ensembl chr 1:247,099,408...247,734,027
JBrowse link
G Stn1 STN1 subunit of CST complex ISO ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma ClinVar PMID:12068298 NCBI chr 1:246,391,311...246,429,844
Ensembl chr 1:246,395,613...246,429,531
JBrowse link
G Sufu SUFU negative regulator of hedgehog signaling ISO ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma ClinVar PMID:12068298 NCBI chr 1:245,257,725...245,355,576
Ensembl chr 1:245,257,768...245,355,577
JBrowse link
G Taf5 TATA-box binding protein associated factor 5 ISO ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma ClinVar PMID:12068298 NCBI chr 1:245,958,428...245,973,914
Ensembl chr 1:245,958,428...245,973,914
JBrowse link
G Trim8 tripartite motif-containing 8 ISO ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma ClinVar PMID:12068298 NCBI chr 1:245,369,632...245,384,513
Ensembl chr 1:245,369,632...245,384,513
JBrowse link
G Wbp1l WW domain binding protein 1-like ISO ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma ClinVar PMID:12068298 NCBI chr 1:245,472,292...245,528,627
Ensembl chr 1:245,472,296...245,528,627
JBrowse link
duodenal gastrinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Men1 menin 1 ISO associated with Neuroendocrine Tumors; DNA:loss of heterozygosity: : RGD PMID:17135306 RGD:2317341 NCBI chr 1:203,638,905...203,644,871
Ensembl chr 1:203,639,000...203,644,871
JBrowse link
familial medullary thyroid carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Insrr insulin receptor-related receptor ISO ClinVar Annotator: match by term: Familial medullary thyroid carcinoma ClinVar PMID:25741868 NCBI chr 2:173,255,335...173,274,800
Ensembl chr 2:173,255,414...173,274,800
JBrowse link
G Ntrk1 neurotrophic receptor tyrosine kinase 1 ISO ClinVar Annotator: match by term: Familial medullary thyroid carcinoma | ClinVar Annotator: match by term: Thyroid cancer, familial medullary ClinVar PMID:10330344 PMID:10443680 PMID:10861667 PMID:11139246 PMID:11159935 More... NCBI chr 2:173,236,961...173,253,806
Ensembl chr 2:173,236,963...173,253,770
JBrowse link
G Prlr prolactin receptor ISS OMIM:155240 MouseDO NCBI chr 2:59,134,147...59,324,719
Ensembl chr 2:59,134,588...59,324,718
JBrowse link
G Ret ret proto-oncogene ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Familial medullary thyroid carcinoma | ClinVar Annotator: match by term: Thyroid cancer, familial medullary
CTD
OMIM
ClinVar
PMID:2660074 PMID:3078962 PMID:3697657 PMID:7536460 PMID:7595170 More... NCBI chr 4:151,325,969...151,368,176
Ensembl chr 4:151,326,431...151,368,176
JBrowse link
familial meningioma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Klln killin, p53-regulated DNA replication inhibitor ISO ClinVar Annotator: match by term: Meningioma, familial, susceptibility to ClinVar PMID:25741868 PMID:26467025 PMID:27535533
G Lztr1 leucine zipper like post translational regulator 1 ISO ClinVar Annotator: match by term: Familial multiple meningioma ClinVar PMID:25741868 NCBI chr11:83,487,717...83,503,896
Ensembl chr11:83,487,717...83,503,633
JBrowse link
G Mn1 MN1 proto-oncogene, transcriptional regulator ISO ClinVar Annotator: match by term: Familial meningioma | ClinVar Annotator: match by term: Meningioma, familial, susceptibility to
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:22451504 PMID:22965664 PMID:25741868 PMID:31834374 PMID:32790267 NCBI chr12:45,181,794...45,220,959
Ensembl chr12:45,183,085...45,221,651
JBrowse link
G Nf2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor ISO ClinVar Annotator: match by term: Familial meningioma | ClinVar Annotator: match by term: Meningioma, familial, susceptibility to
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:1479598 PMID:7759081 PMID:8012353 PMID:8081368 PMID:9466988 More... NCBI chr14:79,627,399...79,710,709
Ensembl chr14:79,627,399...79,710,667
JBrowse link
G Pdgfb platelet derived growth factor subunit B ISO ClinVar Annotator: match by term: Familial meningioma
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:25741868 NCBI chr 7:111,539,444...111,557,984
Ensembl chr 7:111,540,345...111,557,984
JBrowse link
G Pten phosphatase and tensin homolog ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Familial meningioma | ClinVar Annotator: match by term: Meningioma, familial, susceptibility to
CTD
ClinVar
OMIM
PMID:9259288 PMID:9399897 PMID:9425889 PMID:9467011 PMID:9600246 More... NCBI chr 1:230,630,443...230,697,070
Ensembl chr 1:230,630,338...230,696,838
JBrowse link
G Schip1 schwannomin interacting protein 1 ISO ClinVar Annotator: match by term: Familial meningioma ClinVar PMID:25741868 NCBI chr 2:152,127,171...152,888,587
Ensembl chr 2:152,126,953...152,888,585
JBrowse link
G Smarce1 SWI/SNF related BAF chromatin remodeling complex subunit E1 susceptibility ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Familial meningioma | ClinVar Annotator: match by term: Meningioma, familial, susceptibility to
CTD
OMIM
ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:22426308 PMID:23377182 More... NCBI chr10:84,159,270...84,180,547
Ensembl chr10:84,159,275...84,179,989
JBrowse link
G Sufu SUFU negative regulator of hedgehog signaling ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Familial meningioma | ClinVar Annotator: match by term: Meningioma, familial, susceptibility to
CTD
OMIM
ClinVar
PMID:21188540 PMID:22508808 PMID:22958902 PMID:23826113 PMID:24728327 More... NCBI chr 1:245,257,725...245,355,576
Ensembl chr 1:245,257,768...245,355,577
JBrowse link
familial retinoblastoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rb1 RB transcriptional corepressor 1 ISO DNA:mutations:promoter, intron, exon:multiple
ClinVar Annotator: match by term: Hereditary retinoblastoma
ClinVar
RGD
PMID:7881418 PMID:8346255 PMID:8605116 PMID:8651278 PMID:9536098 More... RGD:8547984 NCBI chr15:48,371,295...48,502,473
Ensembl chr15:48,371,296...48,502,302
JBrowse link
gastrinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Igf1r insulin-like growth factor 1 receptor ISO mRNA and protein: increased expression::poor prognosis for high expression RGD PMID:15867218 RGD:7242847 NCBI chr 1:121,549,831...121,838,548
Ensembl chr 1:121,550,743...121,831,777
JBrowse link
G Men1 menin 1 ISO DNA:mutations: :
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:17961653 PMID:15944766 RGD:2317354 NCBI chr 1:203,638,905...203,644,871
Ensembl chr 1:203,639,000...203,644,871
JBrowse link
G Met MET proto-oncogene, receptor tyrosine kinase severity ISO associated with Zollinger-Ellison Syndrome; mRNA:increased expression:tumor (human) RGD PMID:12114431 RGD:2317605 NCBI chr 4:45,790,456...45,898,139
Ensembl chr 4:45,790,791...45,897,876
JBrowse link
G Mgmt O-6-methylguanine-DNA methyltransferase ISO DNA:hypomethylation:promoter (human) RGD PMID:17278096 RGD:2317340 NCBI chr 1:191,710,980...191,937,760
Ensembl chr 1:191,710,930...191,937,756
JBrowse link
G Slc2a2 solute carrier family 2 member 2 ISO mRNA:decreased expression:pancreatic islet RGD PMID:12114701 PMID:8421107 RGD:2324976, RGD:2324977 NCBI chr 2:111,609,798...111,639,930
Ensembl chr 2:111,611,774...111,639,933
JBrowse link
Gastro-Enteropancreatic Neuroendocrine Tumor term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atm ATM serine/threonine kinase disease_progression ISO associated with Neoplasm Metastasis;mRNA, protein: decreased expression:gastrointestinal system, multiple (human) RGD PMID:22485171 RGD:150340716 NCBI chr 8:53,828,741...53,932,773
Ensembl chr 8:53,831,093...53,932,437
JBrowse link
G Atrx ATRX, chromatin remodeler severity ISO RGD PMID:26026117 RGD:127285385 NCBI chr  X:70,850,981...70,997,330
Ensembl chr  X:70,850,981...70,997,330
JBrowse link
G Cd53 Cd53 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:29915428 NCBI chr 2:194,352,139...194,399,668
Ensembl chr 2:194,352,139...194,399,657
JBrowse link
G Cd86 CD86 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:29915428 NCBI chr11:64,142,193...64,200,816
Ensembl chr11:64,163,828...64,200,818
JBrowse link
G Ciita class II, major histocompatibility complex, transactivator ISO CTD Direct Evidence: marker/mechanism CTD PMID:29915428 NCBI chr10:5,139,947...5,187,493
Ensembl chr10:5,140,178...5,187,440
JBrowse link
G Cxcr4 C-X-C motif chemokine receptor 4 severity ISO protein:increased expression:colon (human) RGD PMID:26259237 RGD:11530617 NCBI chr13:40,077,976...40,081,883
Ensembl chr13:40,077,976...40,081,883
JBrowse link
G Daxx death-domain associated protein severity ISO RGD PMID:26026117 RGD:127285385 NCBI chr20:4,970,090...4,976,145
Ensembl chr20:4,970,092...4,975,843
JBrowse link
G Eomes eomesodermin ISO CTD Direct Evidence: marker/mechanism CTD PMID:29915428 NCBI chr 8:118,181,340...118,189,186
Ensembl chr 8:118,181,777...118,188,316
JBrowse link
G Gata3 GATA binding protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29915428 NCBI chr17:68,643,760...68,666,000
Ensembl chr17:68,643,873...68,665,391
JBrowse link
G Gfi1 growth factor independent 1 transcriptional repressor ISO CTD Direct Evidence: marker/mechanism CTD PMID:29915428 NCBI chr14:2,040,576...2,056,874
Ensembl chr14:2,042,434...2,051,814
JBrowse link
G Ikzf1 IKAROS family zinc finger 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29915428 NCBI chr14:86,255,065...86,340,839
Ensembl chr14:86,255,065...86,342,416
JBrowse link
G Ikzf3 IKAROS family zinc finger 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29915428 NCBI chr10:83,460,564...83,553,591
Ensembl chr10:83,465,745...83,553,591
JBrowse link
G Il10 interleukin 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29915428 NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
JBrowse link
G Il2rb interleukin 2 receptor subunit beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:29915428 NCBI chr 7:110,033,341...110,048,054
Ensembl chr 7:110,033,341...110,048,054
JBrowse link
G Notch2 notch receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29915428 NCBI chr 2:185,610,594...185,744,088
Ensembl chr 2:185,610,589...185,744,088
JBrowse link
G Pou2f2 POU class 2 homeobox 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29915428 NCBI chr 1:80,682,330...80,769,756
Ensembl chr 1:80,685,741...80,724,261
JBrowse link
G Ptprc protein tyrosine phosphatase, receptor type, C ISO CTD Direct Evidence: marker/mechanism CTD PMID:29915428 NCBI chr13:49,596,193...49,708,283
Ensembl chr13:49,596,193...49,708,692
JBrowse link
G Runx3 RUNX family transcription factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29915428 NCBI chr 5:147,360,587...147,419,161
Ensembl chr 5:147,360,994...147,419,156
JBrowse link
G Serpina1 serpin family A member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29915428 NCBI chr 6:122,866,314...122,888,339
Ensembl chr 6:122,866,312...122,888,339
JBrowse link
Glucagonoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Btc betacellulin ISO protein:increased expression:pancreas RGD PMID:10724350 RGD:2326087 NCBI chr14:16,708,447...16,746,961
Ensembl chr14:16,707,982...16,747,049
JBrowse link
G Men1 menin 1 ISO DNA:deletion:exon
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:17961653 PMID:20138042 RGD:2317288 NCBI chr 1:203,638,905...203,644,871
Ensembl chr 1:203,639,000...203,644,871
JBrowse link
G Slc2a2 solute carrier family 2 member 2 ISO mRNA:decreased expression:pancreatic islet RGD PMID:12114701 PMID:8421107 RGD:2324976, RGD:2324977 NCBI chr 2:111,609,798...111,639,930
Ensembl chr 2:111,611,774...111,639,933
JBrowse link
G Sstr4 somatostatin receptor 4 ISO RGD PMID:8132773 RGD:2324994 NCBI chr 3:135,854,826...135,856,689
Ensembl chr 3:135,854,826...135,856,689
JBrowse link
Hirschsprung Disease Ganglioneuroblastoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Phox2b paired-like homeobox 2b ISO ClinVar Annotator: match by term: Hirschsprung disease ganglioneuroblastoma ClinVar PMID:11953745 PMID:12438263 PMID:15024693 PMID:15338462 PMID:17637745 More... NCBI chr14:41,066,012...41,069,202
Ensembl chr14:41,066,264...41,068,978
JBrowse link
Intestinal Carcinoid Tumors term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nap1l1 nucleosome assembly protein 1-like 1 ISO mRNA:increased expression:intestinal mucosa (human) RGD PMID:16424981 RGD:9590082 NCBI chr 7:46,933,278...46,957,853
Ensembl chr 7:46,933,356...46,956,593
JBrowse link
G Sdhd succinate dehydrogenase complex subunit D ISO ClinVar Annotator: match by term: Carcinoid tumors, intestinal ClinVar PMID:12007193 PMID:12111639 PMID:12386824 PMID:12696072 PMID:14557476 More... NCBI chr 8:50,944,702...50,954,298
Ensembl chr 8:50,944,704...50,954,238
JBrowse link
islet cell tumor term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atrx ATRX, chromatin remodeler disease_progression ISO protein:decreased expression:pancreas: RGD PMID:24148618 RGD:9586032 NCBI chr  X:70,850,981...70,997,330
Ensembl chr  X:70,850,981...70,997,330
JBrowse link
G Cdk4 cyclin-dependent kinase 4 ISO protein:increased expression:pancreas, islet of Langerhans (human) RGD PMID:22761470 RGD:13452384 NCBI chr 7:62,886,124...62,889,562
Ensembl chr 7:62,883,105...62,942,403
JBrowse link
G Daxx death-domain associated protein disease_progression ISO RGD PMID:21252315 RGD:9587819 NCBI chr20:4,970,090...4,976,145
Ensembl chr20:4,970,092...4,975,843
JBrowse link
G Pcsk1 proprotein convertase subtilisin/kexin type 1 IEP protein:increased expression:insulinoma (rat) RGD PMID:7925129 RGD:2308920 NCBI chr 2:4,395,543...4,442,434
Ensembl chr 2:4,395,543...4,442,434
JBrowse link
Islet Cell Tumor Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fntb farnesyltransferase, CAAX box, subunit beta ISO ClinVar Annotator: match by term: Chromaffinoma ClinVar NCBI chr 6:95,536,540...95,619,587
Ensembl chr 6:95,470,683...95,619,586
JBrowse link
G Max MYC associated factor X ISO ClinVar Annotator: match by term: Chromaffinoma ClinVar PMID:21685915 PMID:22452945 PMID:23666964 PMID:25741868 PMID:26070438 More... NCBI chr 6:95,636,859...95,662,204
Ensembl chr 6:95,636,858...95,662,137
JBrowse link
G Mpz myelin protein zero ISO ClinVar Annotator: match by term: Chromaffinoma ClinVar PMID:12807974 PMID:17468193 PMID:19454582 PMID:23342407 PMID:24033266 More... NCBI chr13:83,570,811...83,576,680
Ensembl chr13:83,570,811...83,576,679
JBrowse link
G Ret ret proto-oncogene ISO ClinVar Annotator: match by term: Chromaffinoma ClinVar PMID:2008030 PMID:2660074 PMID:2904651 PMID:3078962 PMID:7536460 More... NCBI chr 4:151,325,969...151,368,176
Ensembl chr 4:151,326,431...151,368,176
JBrowse link
G Sdhaf2 succinate dehydrogenase complex assembly factor 2 ISO ClinVar Annotator: match by term: Chromaffinoma ClinVar PMID:28492532 NCBI chr 1:207,139,070...207,167,830
Ensembl chr 1:207,139,112...207,168,616
JBrowse link
G Sdhb succinate dehydrogenase complex iron sulfur subunit B ISO ClinVar Annotator: match by term: Chromaffinoma ClinVar PMID:490809 PMID:2308387 PMID:9509062 PMID:9536098 PMID:11404820 More... NCBI chr 5:153,264,906...153,285,570
Ensembl chr 5:153,264,899...153,314,293
JBrowse link
G Sdhc succinate dehydrogenase complex subunit C ISO ClinVar Annotator: match by term: Chromaffinoma ClinVar PMID:12807974 PMID:17468193 PMID:19454582 PMID:22517554 PMID:22703879 More... NCBI chr13:83,544,652...83,565,560
Ensembl chr13:83,544,652...83,566,253
JBrowse link
G Sdhd succinate dehydrogenase complex subunit D ISO ClinVar Annotator: match by term: Chromaffinoma ClinVar PMID:1945482 PMID:8981955 PMID:9536098 PMID:9683583 PMID:10323245 More... NCBI chr 8:50,944,702...50,954,298
Ensembl chr 8:50,944,704...50,954,238
JBrowse link
G Tmem127 transmembrane protein 127 ISO ClinVar Annotator: match by term: Chromaffinoma ClinVar PMID:9536098 PMID:16199547 PMID:16266984 PMID:17576681 PMID:20154675 More... NCBI chr 3:114,466,095...114,478,894
Ensembl chr 3:114,466,171...114,477,519
JBrowse link
G Vhl von Hippel-Lindau tumor suppressor ISO ClinVar Annotator: match by term: Chromaffinoma ClinVar PMID:7563486 PMID:7660122 PMID:7728151 PMID:7784063 PMID:7987306 More... NCBI chr 4:146,772,483...146,779,376
Ensembl chr 4:146,772,468...146,779,377
JBrowse link
Lung Carcinoid Tumors term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atrx ATRX, chromatin remodeler disease_progression ISO protein:decreased expression:nucleus, lung RGD PMID:31499081 RGD:127285379 NCBI chr  X:70,850,981...70,997,330
Ensembl chr  X:70,850,981...70,997,330
JBrowse link
G Col4a3 collagen type IV alpha 3 chain severity ISO mRNA:decreased expression:lung (human) RGD PMID:25105010 RGD:151660336 NCBI chr 9:83,875,849...84,004,955
Ensembl chr 9:83,875,561...84,001,895
JBrowse link
G Creb5 cAMP responsive element binding protein 5 severity ISO mRNA:decreased expression:lung (human) RGD PMID:25105010 RGD:151660336 NCBI chr 4:82,393,091...82,794,320
Ensembl chr 4:82,393,730...82,790,325
JBrowse link
G Men1 menin 1 ISO ClinVar Annotator: match by term: Lung carcinoid tumor ClinVar PMID:9215689 PMID:9361035 PMID:9463336 PMID:9709921 PMID:11303512 More... NCBI chr 1:203,638,905...203,644,871
Ensembl chr 1:203,639,000...203,644,871
JBrowse link
G Ptprb protein tyrosine phosphatase, receptor type, B severity ISO mRNA:decreased expression:lung (human) RGD PMID:25105010 RGD:151660336 NCBI chr 7:51,953,375...52,034,751
Ensembl chr 7:51,930,015...52,034,748
JBrowse link
lung oat cell carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Akt1 AKT serine/threonine kinase 1 ISO ClinVar Annotator: match by term: Lung oat cell carcinoma ClinVar PMID:17611497 PMID:18256540 PMID:18392055 PMID:18504432 PMID:18611285 More... NCBI chr 6:131,713,716...131,735,319
Ensembl chr 6:131,713,720...131,733,921
JBrowse link
G B2m beta-2 microglobulin ISO ClinVar Annotator: match by term: Lung oat cell carcinoma ClinVar PMID:26619011 NCBI chr 3:109,095,740...109,101,764
Ensembl chr 3:109,095,729...109,101,766
JBrowse link
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha ISO ClinVar Annotator: match by term: Lung oat cell carcinoma ClinVar PMID:15016963 PMID:15254419 PMID:15520168 PMID:15608678 PMID:15647370 More... NCBI chr 2:115,175,275...115,249,034
Ensembl chr 2:115,174,984...115,249,032
JBrowse link
G Pten phosphatase and tensin homolog ISO ClinVar Annotator: match by term: Lung oat cell carcinoma ClinVar PMID:1945792 PMID:9467011 PMID:9915974 PMID:10866302 PMID:11051241 More... NCBI chr 1:230,630,443...230,697,070
Ensembl chr 1:230,630,338...230,696,838
JBrowse link
G Rb1 RB transcriptional corepressor 1 ISO ClinVar Annotator: match by term: Lung oat cell carcinoma ClinVar PMID:1352883 PMID:7881418 PMID:9632788 PMID:9671401 PMID:10486322 More... NCBI chr15:48,371,295...48,502,473
Ensembl chr15:48,371,296...48,502,302
JBrowse link
G Tp53 tumor protein p53 ISO ClinVar Annotator: match by term: Lung oat cell carcinoma ClinVar PMID:1565143 PMID:1565144 PMID:1569604 PMID:1631137 PMID:1631151 More... NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
JBrowse link
lung small cell carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acvr1b activin A receptor type 1B ISO RGD PMID:33880365 RGD:151665493 NCBI chr 7:132,286,266...132,329,679
Ensembl chr 7:132,286,275...132,329,673
JBrowse link
G Adcy1 adenylate cyclase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22941189 NCBI chr14:81,911,240...82,020,594
Ensembl chr14:81,911,099...82,028,969
JBrowse link
G Akt1 AKT serine/threonine kinase 1 ISO ClinVar Annotator: match by term: Small cell lung cancer ClinVar PMID:17611497 PMID:18256540 PMID:18392055 PMID:18504432 PMID:18611285 More... NCBI chr 6:131,713,716...131,735,319
Ensembl chr 6:131,713,720...131,733,921
JBrowse link
G Apoa1 apolipoprotein A1 treatment ISO RGD PMID:26996551 RGD:11561502 NCBI chr 8:46,527,251...46,529,035
Ensembl chr 8:46,527,144...46,529,035
JBrowse link
G Apoc3 apolipoprotein C3 treatment ISO RGD PMID:26996551 RGD:11561502 NCBI chr 8:46,531,478...46,533,658
Ensembl chr 8:46,531,478...46,533,583
JBrowse link
G Ascl1 achaete-scute family bHLH transcription factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26253517 NCBI chr 7:21,903,136...21,906,003
Ensembl chr 7:21,903,126...21,905,993
JBrowse link
G Atm ATM serine/threonine kinase susceptibility ISO DNA:SNP:intron:(rs227060) (human) RGD PMID:28642860 RGD:150383339 NCBI chr 8:53,828,741...53,932,773
Ensembl chr 8:53,831,093...53,932,437
JBrowse link
G Atrx ATRX, chromatin remodeler disease_progression ISO RGD PMID:31374064 PMID:29748005 RGD:127285382, RGD:127285383 NCBI chr  X:70,850,981...70,997,330
Ensembl chr  X:70,850,981...70,997,330
JBrowse link
G Avp arginine vasopressin ISO CTD Direct Evidence: marker/mechanism CTD PMID:2832203 NCBI chr 3:117,793,447...117,805,091
Ensembl chr 3:117,793,457...117,795,425
JBrowse link
G Axin2 axin 2 disease_progression ISO DNA:SNP::1386 C>T(human) RGD PMID:30346805 RGD:151356655 NCBI chr10:93,893,830...93,927,042
Ensembl chr10:93,899,245...93,926,231
JBrowse link
G B2m beta-2 microglobulin ISO ClinVar Annotator: match by term: Small cell lung carcinoma ClinVar PMID:26619011 NCBI chr 3:109,095,740...109,101,764
Ensembl chr 3:109,095,729...109,101,766
JBrowse link
G Bcl2 BCL2, apoptosis regulator susceptibility ISO DNA:SNP: :rs2279115(human) RGD PMID:26311051 RGD:13673911 NCBI chr13:22,689,783...22,853,920
Ensembl chr13:22,684,989...22,853,743
Ensembl chr13:22,684,989...22,853,743
JBrowse link
G Bclaf1 BCL2-associated transcription factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22941189 NCBI chr 1:15,088,436...15,117,666
Ensembl chr 1:15,070,894...15,148,832
JBrowse link
G Ccnd1 cyclin D1 disease_progression ISO DNA:snp:exon:c.870G>A (human) RGD PMID:29739297 RGD:13673912 NCBI chr 1:200,089,002...200,098,524
Ensembl chr 1:200,089,002...200,098,602
JBrowse link
G Cdkn1b cyclin-dependent kinase inhibitor 1B ISO protein:increased expression:lung RGD PMID:9500468 RGD:13673920 NCBI chr 4:167,760,067...167,765,177
Ensembl chr 4:167,760,181...167,764,982
JBrowse link
G Cdyl chromodomain Y-like ISO CTD Direct Evidence: marker/mechanism CTD PMID:22941189 NCBI chr17:28,982,009...29,204,345
Ensembl chr17:28,982,037...29,204,313
JBrowse link
G Chrna3 cholinergic receptor nicotinic alpha 3 subunit susceptibility ISO mRNA:increased expression:lung
DNA:SNP:cds:rs8040868(human)
RGD PMID:20124469 PMID:22280835 RGD:150527851, RGD:151347453 NCBI chr 8:55,401,668...55,415,165
Ensembl chr 8:55,401,702...55,415,165
JBrowse link
G Chrna5 cholinergic receptor nicotinic alpha 5 subunit ISO mRNA:increased expression:lung RGD PMID:20124469 RGD:150527851 NCBI chr 8:55,369,794...55,398,526
Ensembl chr 8:55,369,794...55,398,146
JBrowse link
G Chrna9 cholinergic receptor nicotinic alpha 9 subunit susceptibility ISO DNA:SNPs:multiples: RGD PMID:22280835 RGD:151347453 NCBI chr14:42,235,218...42,241,939
Ensembl chr14:42,235,226...42,242,192
JBrowse link
G Chrnb4 cholinergic receptor nicotinic beta 4 subunit ISO mRNA:increased expression:lung RGD PMID:20124469 RGD:150527851 NCBI chr 8:55,417,583...55,437,027
Ensembl chr 8:55,418,313...55,437,027
JBrowse link
G Ckb creatine kinase B ISO CTD Direct Evidence: marker/mechanism CTD PMID:2828370 NCBI chr 6:130,729,420...130,732,301
Ensembl chr 6:130,729,423...130,732,315
JBrowse link
G Cntnap2 contactin associated protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22941189 NCBI chr 4:74,109,455...76,366,434
Ensembl chr 4:74,109,472...76,362,027
JBrowse link
G Col22a1 collagen type XXII alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:22941189 NCBI chr 7:103,730,939...103,968,452
Ensembl chr 7:103,731,037...103,968,462
JBrowse link
G Col4a2 collagen type IV alpha 2 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:22941189 NCBI chr16:78,047,591...78,183,360
Ensembl chr16:78,047,602...78,183,839
JBrowse link
G Crebbp CREB binding protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:22941188 NCBI chr10:11,335,551...11,461,888
Ensembl chr10:11,335,953...11,461,888
JBrowse link
G Csf1r colony stimulating factor 1 receptor exacerbates ISO protein:increased expression:lung (human) RGD PMID:1390197 RGD:150524305 NCBI chr18:54,546,673...54,590,418
Ensembl chr18:54,546,659...54,590,415
JBrowse link
G Csf3 colony stimulating factor 3 ISO CTD Direct Evidence: therapeutic CTD PMID:9093707 NCBI chr10:83,660,787...83,664,569
Ensembl chr10:83,661,207...83,663,603
JBrowse link
G Cyp24a1 cytochrome P450, family 24, subfamily a, polypeptide 1 susceptibility ISO DNA:SNP:CDS: (rs6068816) (human) RGD PMID:31264381 RGD:151665340 NCBI chr 3:159,275,947...159,290,383
Ensembl chr 3:159,275,947...159,290,383
JBrowse link
G Dip2c disco-interacting protein 2 homolog C ISO CTD Direct Evidence: marker/mechanism CTD PMID:22941189 NCBI chr17:60,647,346...61,032,467
Ensembl chr17:60,649,065...61,032,305
JBrowse link
G Dll4 delta like canonical Notch ligand 4 treatment IEP RGD PMID:33628824 RGD:155663482 NCBI chr 3:106,317,114...106,327,004
Ensembl chr 3:106,316,986...106,326,931
JBrowse link
G Dnmt3b DNA methyltransferase 3 beta susceptibility ISO DNA:SNPs:promoter:-283T >C,-579G>T(human) RGD PMID:15528220 RGD:9589086 NCBI chr 3:142,130,588...142,169,128
Ensembl chr 3:142,130,592...142,169,124
JBrowse link
G E2f1 E2F transcription factor 1 disease_progression
treatment
ISO mRNA, protein:increased expression:lung RGD PMID:24755270 PMID:11313916 PMID:23792570 RGD:13464335, RGD:13464344, RGD:13464337 NCBI chr 3:143,064,535...143,075,362
Ensembl chr 3:143,049,478...143,075,361
JBrowse link
G Eef2 eukaryotic translation elongation factor 2 ISO protein:increased expression:lung (human) RGD PMID:24589652 RGD:153297816 NCBI chr 7:8,533,248...8,538,518
Ensembl chr 7:8,533,116...8,559,183
JBrowse link
G Egfr epidermal growth factor receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:20837450 NCBI chr14:91,176,979...91,349,722
Ensembl chr14:91,177,067...91,344,382
JBrowse link
G Elavl2 ELAV like RNA binding protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22941189 NCBI chr 5:105,960,872...106,086,463
Ensembl chr 5:105,960,875...106,109,097
JBrowse link
G Ep300 E1A binding protein p300 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22941188 NCBI chr 7:113,108,476...113,178,529
Ensembl chr 7:113,106,247...113,136,088
Ensembl chr 7:113,106,247...113,136,088
JBrowse link
G Epha7 Eph receptor A7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22941188 NCBI chr 5:42,975,353...43,128,703
Ensembl chr 5:42,975,405...43,127,112
JBrowse link
G Fat1 FAT atypical cadherin 1 ISO DNA:mutations:multiple (human) RGD PMID:31199602 RGD:150429733 NCBI chr16:47,177,253...47,296,261
Ensembl chr16:47,177,248...47,296,107
JBrowse link
G Fgfr1 Fibroblast growth factor receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22941188 NCBI chr16:66,491,930...66,547,161
Ensembl chr16:66,494,042...66,547,350
JBrowse link
G Foxa1 forkhead box A1 disease_progression ISO RGD PMID:22383183 RGD:151665760 NCBI chr 6:75,099,907...75,136,534
Ensembl chr 6:75,103,503...75,136,188
JBrowse link
G Grik3 glutamate ionotropic receptor kainate type subunit 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22941189 NCBI chr 5:137,767,865...137,989,617
Ensembl chr 5:137,767,865...137,984,307
JBrowse link
G Grm8 glutamate metabotropic receptor 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22941189 NCBI chr 4:55,805,762...56,731,690
Ensembl chr 4:55,805,955...56,730,831
JBrowse link
G Grp gastrin releasing peptide disease_progression ISO protein:increased expression:serum (human) RGD PMID:30146822 RGD:401700396 NCBI chr18:59,388,679...59,402,061
Ensembl chr18:59,388,274...59,402,061
JBrowse link
G Id2 inhibitor of DNA binding 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23582323 NCBI chr 6:41,740,556...41,742,393
Ensembl chr 6:41,728,946...41,744,400
JBrowse link
G Insm1 INSM transcriptional repressor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23582323 NCBI chr 3:133,640,030...133,642,963
Ensembl chr 3:133,639,580...133,643,003
JBrowse link
G Itgb1 integrin subunit beta 1 disease_progression
treatment
ISO RGD PMID:21063403 PMID:12168902 RGD:13792831, RGD:13792832 NCBI chr19:56,705,123...56,753,199
Ensembl chr19:56,705,171...56,753,195
JBrowse link
G Kdm6a lysine demethylase 6A ISO DNA:mutations:multiple: (human) RGD PMID:31199602 RGD:150429733 NCBI chr  X:4,337,466...4,477,100
Ensembl chr  X:4,337,750...4,477,062
JBrowse link
G Khsrp KH-type splicing regulatory protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:22941189 NCBI chr 9:1,862,555...1,872,403
Ensembl chr 9:1,862,899...1,872,451
JBrowse link
G Kif21a kinesin family member 21A ISO CTD Direct Evidence: marker/mechanism CTD PMID:22941189 NCBI chr 7:122,062,523...122,179,051
Ensembl chr 7:122,062,537...122,178,999
JBrowse link
G Kit KIT proto-oncogene receptor tyrosine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:15499612 NCBI chr14:32,547,459...32,624,694
Ensembl chr14:32,548,877...32,624,652
JBrowse link
G Kmt2a lysine methyltransferase 2A ISO CTD Direct Evidence: marker/mechanism CTD PMID:22941188 NCBI chr 8:45,116,763...45,193,320
Ensembl chr 8:45,118,814...45,193,181
JBrowse link
G Kmt2d lysine methyltransferase 2D disease_progression ISO DNA:missense mutations, insertion/deletion:plasma RGD PMID:28007623 PMID:29748005 PMID:27873319 PMID:29627316 RGD:150523766, RGD:127285383, RGD:150523768, RGD:150523767 NCBI chr 7:129,980,744...130,022,088
Ensembl chr 7:129,962,887...130,020,325
JBrowse link
G Lama3 laminin subunit alpha 3 ISO DNA:hyper-methylation:promoter: RGD PMID:12855645 RGD:13793369 NCBI chr18:3,523,168...3,751,722
Ensembl chr18:3,523,133...3,751,353
JBrowse link
G Lamb3 laminin subunit beta 3 ISO DNA:hyper-methylation:promoter: RGD PMID:12855645 RGD:13793369 NCBI chr13:104,833,810...104,875,405
Ensembl chr13:104,833,873...104,875,405
JBrowse link
G Lamc2 laminin subunit gamma 2 ISO DNA:hyper-methylation:promoter: RGD PMID:12855645 RGD:13793369 NCBI chr13:65,284,664...65,344,164
Ensembl chr13:65,284,664...65,344,200
JBrowse link
G Lyrm9 LYR motif containing 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22941189 NCBI chr10:63,725,718...63,739,772
Ensembl chr10:63,725,743...63,739,772
JBrowse link
G Max MYC associated factor X ISO DNA:loss of heterozygosity:lung RGD PMID:24362264 RGD:13793386 NCBI chr 6:95,636,859...95,662,204
Ensembl chr 6:95,636,858...95,662,137
JBrowse link
G Mthfr methylenetetrahydrofolate reductase severity ISO protein:missense mutation:cds:p.A222V (human) RGD PMID:17533396 RGD:4891158 NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797
JBrowse link
G Mtor mechanistic target of rapamycin kinase disease_progression ISO DNA:SNP: :rs2536(human) RGD PMID:28280736 RGD:13825123 NCBI chr 5:158,884,856...158,994,311
Ensembl chr 5:158,884,804...158,994,311
JBrowse link
G Myc MYC proto-oncogene, bHLH transcription factor disease_progression ISO RGD PMID:28089889 RGD:13793389 NCBI chr 7:93,593,705...93,598,633
Ensembl chr 7:93,593,705...93,598,630
JBrowse link
G Mycl MYCL proto-oncogene, bHLH transcription factor ISO CTD Direct Evidence: therapeutic CTD PMID:22941189 NCBI chr 5:135,274,713...135,281,584
Ensembl chr 5:135,274,748...135,281,582
JBrowse link
G Ndrg1 N-myc downstream regulated 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15341671 NCBI chr 7:98,684,487...98,725,869
Ensembl chr 7:98,684,487...98,725,880
JBrowse link
G Notch1 notch receptor 1 treatment IEP RGD PMID:33628824 RGD:155663482 NCBI chr 3:9,277,955...9,323,531
Ensembl chr 3:9,278,086...9,323,531
JBrowse link
G Pbrm1 polybromo 1 disease_progression ISO RGD PMID:29748005 RGD:127285383 NCBI chr16:6,213,507...6,312,895
Ensembl chr16:6,213,300...6,311,780
JBrowse link
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha ISO ClinVar Annotator: match by term: Small cell lung carcinoma ClinVar PMID:15016963 PMID:15254419 PMID:15520168 PMID:15608678 PMID:15647370 More... NCBI chr 2:115,175,275...115,249,034
Ensembl chr 2:115,174,984...115,249,032
JBrowse link
G Pik3r1 phosphoinositide-3-kinase regulatory subunit 1 disease_progression ISO DNA:SNPs: :rs3756668,rs12755(human) RGD PMID:28280736 RGD:13825123 NCBI chr 2:32,878,942...32,963,668
Ensembl chr 2:32,882,032...32,963,631
JBrowse link
G Plscr4 phospholipid scramblase 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22941189 NCBI chr 8:92,987,290...93,026,056
Ensembl chr 8:92,987,381...93,026,049
JBrowse link
G Pten phosphatase and tensin homolog ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Small cell lung carcinoma
CTD
ClinVar
PMID:1945792 PMID:9467011 PMID:9915974 PMID:10866302 PMID:11051241 More... NCBI chr 1:230,630,443...230,697,070
Ensembl chr 1:230,630,338...230,696,838
JBrowse link
G Ptk2 protein tyrosine kinase 2 disease_progression ISO DNA:CNV:: RGD PMID:21800286 PMID:20802517 RGD:13825133, RGD:13825141 NCBI chr 7:105,126,725...105,331,848
Ensembl chr 7:105,126,728...105,331,783
JBrowse link
G Rad52 RAD52 homolog, DNA repair protein susceptibility
treatment
ISO DNA:SNP:3'utr: (rs7963551) (human)
DNA:SNP: (rs10774474)(human)
RGD PMID:26629180 PMID:27531263 RGD:151660337, RGD:151660339 NCBI chr 4:153,106,062...153,128,598
Ensembl chr 4:153,106,062...153,128,207
JBrowse link
G Rarb retinoic acid receptor, beta ISO DNA:methylation: : RGD PMID:29851970 RGD:13825142 NCBI chr15:8,700,533...9,051,288
Ensembl chr15:8,406,492...9,051,288
JBrowse link
G Rassf8 Ras association domain family member 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22941189 NCBI chr 4:178,716,110...178,798,042
Ensembl chr 4:178,719,992...178,796,690
JBrowse link
G Rb1 RB transcriptional corepressor 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Small cell lung carcinoma
CTD
ClinVar
PMID:1352883 PMID:2594029 PMID:7881418 PMID:9632788 PMID:9671401 More... NCBI chr15:48,371,295...48,502,473
Ensembl chr15:48,371,296...48,502,302
JBrowse link
G Rictor RPTOR independent companion of MTOR, complex 2 severity ISO associated with Neoplasm Metastasis; protein:increased expression:lung, lymph node (human)
DNA:CNV, amplification:exon (human)
RGD PMID:31454632 PMID:27863413 RGD:152995447, RGD:152995517 NCBI chr 2:55,811,877...55,903,893
Ensembl chr 2:55,811,322...55,901,426
JBrowse link
G Rims2 regulating synaptic membrane exocytosis 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22941189 NCBI chr 7:70,248,104...70,759,134
Ensembl chr 7:70,243,872...70,757,491
JBrowse link
G Runx1t1 RUNX1 partner transcriptional co-repressor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22941189 NCBI chr 5:27,187,674...27,338,070
Ensembl chr 5:27,187,551...27,335,592
JBrowse link
G Satb2 SATB homeobox 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22941189 NCBI chr 9:58,348,027...58,534,256
Ensembl chr 9:58,350,246...58,530,707
JBrowse link
G Skp2 S-phase kinase associated protein 2 ISO mRNA:increased expression:lung: RGD PMID:12107105 RGD:13825152 NCBI chr 2:58,161,226...58,189,293
Ensembl chr 2:58,161,229...58,189,338
JBrowse link
G Slit2 slit guidance ligand 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22941188 NCBI chr14:62,616,337...62,955,934
Ensembl chr14:62,617,067...62,955,948
JBrowse link
G Smarca4 SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26343384 NCBI chr 8:20,167,717...20,258,975
Ensembl chr 8:20,167,717...20,258,975
JBrowse link
G Sox2 SRY-box transcription factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22941189 NCBI chr 2:117,536,929...117,539,340
Ensembl chr 2:117,536,929...117,539,338
JBrowse link
G Tmem132d transmembrane protein 132D ISO CTD Direct Evidence: marker/mechanism CTD PMID:22941189 NCBI chr12:28,270,039...28,917,324
Ensembl chr12:28,270,712...28,915,374
JBrowse link
G Tp53 tumor protein p53 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Small cell lung cancer | ClinVar Annotator: match by term: Small cell lung carcinoma
CTD
ClinVar
PMID:1565143 PMID:1565144 PMID:1569604 PMID:1631137 PMID:1631151 More... NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
JBrowse link
G Tp73 tumor protein p73 ISO DNA:mutations:multiple: (human) RGD PMID:26168399 RGD:151347582 NCBI chr 5:164,621,377...164,703,958
Ensembl chr 5:164,621,377...164,681,128
JBrowse link
G Ttr transthyretin ISO protein:increased expression:lung (human) RGD PMID:26943652 RGD:151665207 NCBI chr18:11,941,791...11,951,008
Ensembl chr18:11,943,789...11,951,008
JBrowse link
G Ubxn11 UBX domain protein 11 ISO ClinVar Annotator: match by term: Small cell lung cancer | ClinVar Annotator: match by term: Small cell lung carcinoma ClinVar NCBI chr 5:146,329,666...146,353,529
Ensembl chr 5:146,329,842...146,353,526
JBrowse link
G Xpo5 exportin 5 severity ISO DNA:snp, haplotype:3' utr:c.*659A>C (rs11077) (human) RGD PMID:24648983 RGD:11041738 NCBI chr 9:14,740,182...14,778,171
Ensembl chr 9:14,740,182...14,778,171
JBrowse link
G Zdbf2 zinc finger, DBF-type containing 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22941189 NCBI chr 9:64,672,974...64,748,446
Ensembl chr 9:64,709,880...64,744,265
JBrowse link
malignant peripheral nerve sheath tumor term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kdm4b lysine demethylase 4B ISO DNA:amplification:cds (human) RGD PMID:21785329 RGD:9587769 NCBI chr 9:1,158,737...1,237,233
Ensembl chr 9:1,158,752...1,236,543
JBrowse link
Medullary Carcinomas term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hpgd 15-hydroxyprostaglandin dehydrogenase ISO CTD Direct Evidence: therapeutic CTD PMID:11352223 NCBI chr16:33,986,265...34,024,228
Ensembl chr16:33,986,266...34,024,228
JBrowse link
G Ret ret proto-oncogene ISO CTD Direct Evidence: marker/mechanism CTD PMID:7915165 NCBI chr 4:151,325,969...151,368,176
Ensembl chr 4:151,326,431...151,368,176
JBrowse link
medullary thyroid carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kras KRAS proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Medullary thyroid gland carcinoma ClinVar PMID:12460918 PMID:15696205 PMID:16361624 PMID:16618717 PMID:17062680 More... NCBI chr 4:178,185,418...178,218,484 JBrowse link
G Ret ret proto-oncogene ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Medullary thyroid carcinoma | ClinVar Annotator: match by term: Medullary thyroid gland carcinoma
CTD
ClinVar
PMID:2008030 PMID:2660074 PMID:2904651 PMID:3078962 PMID:7536460 More... NCBI chr 4:151,325,969...151,368,176
Ensembl chr 4:151,326,431...151,368,176
JBrowse link
medulloblastoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ank3 ankyrin 3 ISO ClinVar Annotator: match by term: Classic medulloblastoma ClinVar NCBI chr20:18,602,267...19,225,831
Ensembl chr20:18,602,786...19,086,300
JBrowse link
G Apc APC regulator of WNT signaling pathway ISO associated with Adenomatous Polyposis Coli;DNA:mutations: :
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:7661930 PMID:17238184 RGD:6484523 NCBI chr18:25,828,558...25,925,511
Ensembl chr18:25,864,222...25,922,696
JBrowse link
G Arid1a AT-rich interaction domain 1A ISO ClinVar Annotator: match by term: Medulloblastoma ClinVar PMID:26822237 NCBI chr 5:145,908,173...145,981,552
Ensembl chr 5:145,908,181...145,985,564
JBrowse link
G Arid1b AT-rich interaction domain 1B ISO ClinVar Annotator: match by term: Medulloblastoma ClinVar PMID:25741868 PMID:26822237 NCBI chr 1:45,567,991...45,923,644
Ensembl chr 1:45,563,623...45,923,493
JBrowse link
G Atoh1 atonal bHLH transcription factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18347096 NCBI chr 4:93,912,068...93,914,163
Ensembl chr 4:93,912,068...93,914,154
JBrowse link
G Bap1 BRCA1 associated deubiquitinase 1 ISO ClinVar Annotator: match by term: Medulloblastoma ClinVar PMID:24970262 PMID:25741868 PMID:26719535 PMID:28492532 PMID:29641532 More... NCBI chr16:6,446,709...6,455,535
Ensembl chr16:6,446,709...6,455,535
JBrowse link
G Brca2 BRCA2, DNA repair associated ISO ClinVar Annotator: match by term: MEDULLOBLASTOMA PREDISPOSITION SYNDROME | ClinVar Annotator: match by term: Medulloblastoma
CTD Direct Evidence: marker/mechanism
ClinVar
OMIM
CTD
RGD
PMID:251866 PMID:278235 PMID:2661312 PMID:8589730 PMID:8673090 More... RGD:11038793 NCBI chr12:59,492...103,789
Ensembl chr12:59,819...100,567
JBrowse link
G Brd2 bromodomain containing 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24231268 NCBI chr20:4,727,078...4,735,389
Ensembl chr20:4,728,151...4,735,388
JBrowse link
G Brd3 bromodomain containing 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24231268 NCBI chr 3:10,773,163...10,829,675
Ensembl chr 3:10,775,272...10,829,577
JBrowse link
G Brd4 bromodomain containing 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24231268 PMID:31594641 NCBI chr 7:11,216,446...11,296,029
Ensembl chr 7:11,216,446...11,295,539
JBrowse link
G Ccnd1 cyclin D1 ISO RGD PMID:16943274 RGD:13681932 NCBI chr 1:200,089,002...200,098,524
Ensembl chr 1:200,089,002...200,098,602
JBrowse link
G Ccne1 cyclin E1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19270706 NCBI chr 1:90,781,947...90,791,188
Ensembl chr 1:90,781,949...90,791,101
JBrowse link
G Cdk6 cyclin-dependent kinase 6 disease_progression ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:19270706 PMID:23138228 PMID:16314645 RGD:13702096 NCBI chr 4:30,637,650...30,829,688
Ensembl chr 4:30,646,460...30,829,634
JBrowse link
G Cdk9 cyclin-dependent kinase 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:31594641 NCBI chr 3:15,996,467...16,001,315
Ensembl chr 3:15,996,468...16,002,410
JBrowse link
G Crebbp CREB binding protein ISO ClinVar Annotator: match by term: MEDULLOBLASTOMA PREDISPOSITION SYNDROME ClinVar PMID:21390126 PMID:21680795 PMID:21796119 PMID:22832583 PMID:23334668 More... NCBI chr10:11,335,551...11,461,888
Ensembl chr10:11,335,953...11,461,888
JBrowse link
G Ctnnb1 catenin beta 1 ISO ClinVar Annotator: match by term: MEDULLOBLASTOMA PREDISPOSITION SYNDROME | ClinVar Annotator: match by term: Medulloblastoma
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:9065402 PMID:9065403 PMID:9294210 PMID:9927029 PMID:10027390 More... NCBI chr 8:120,640,008...120,667,110
Ensembl chr 8:120,639,995...120,667,111
JBrowse link
G Ddx3x DEAD-box helicase 3, X-linked ISO ClinVar Annotator: match by term: Medulloblastoma
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:26822237 PMID:27058758 NCBI chr  X:9,479,532...9,493,169
Ensembl chr  X:9,479,532...9,493,168
JBrowse link
G Dicer1 dicer 1 ribonuclease III ISO ClinVar Annotator: match by term: Medulloblastoma ClinVar PMID:25741868 NCBI chr 6:123,627,529...123,692,278
Ensembl chr 6:123,631,250...123,693,965
JBrowse link
G Dnmt1 DNA methyltransferase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19155313 NCBI chr 8:19,440,611...19,486,659
Ensembl chr 8:19,440,611...19,486,659
JBrowse link
G Ehmt1 euchromatic histone lysine methyltransferase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19270706 NCBI chr 3:7,580,680...7,729,046
Ensembl chr 3:7,580,683...7,729,007
JBrowse link
G Elp1 elongator acetyltransferase complex subunit 1 ISO ClinVar Annotator: match by term: Medulloblastoma
ClinVar Annotator: match by term: MEDULLOBLASTOMA PREDISPOSITION SYNDROME | ClinVar Annotator: match by term: Medulloblastoma
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:9536098 PMID:11179008 PMID:11179021 PMID:12116234 PMID:16199547 More... NCBI chr 5:71,453,338...71,505,833
Ensembl chr 5:71,456,310...71,505,762
JBrowse link
G Ep300 E1A binding protein p300 ISO ClinVar Annotator: match by term: Medulloblastoma ClinVar PMID:26619011 NCBI chr 7:113,108,476...113,178,529
Ensembl chr 7:113,106,247...113,136,088
Ensembl chr 7:113,106,247...113,136,088
JBrowse link
G Erbb2 erb-b2 receptor tyrosine kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20168248 NCBI chr10:83,411,197...83,435,078
Ensembl chr10:83,411,313...83,435,078
JBrowse link
G Esr2 estrogen receptor 2 ISO CTD Direct Evidence: therapeutic CTD PMID:21351254 NCBI chr 6:94,858,438...94,909,630
Ensembl chr 6:94,809,547...94,908,919
JBrowse link
G Fbxw7 F-box and WD repeat domain containing 7 ISO ClinVar Annotator: match by term: MEDULLOBLASTOMA PREDISPOSITION SYNDROME ClinVar PMID:26619011 NCBI chr 2:170,149,706...170,311,536
Ensembl chr 2:170,149,694...170,309,941
JBrowse link
G Fgfr1 Fibroblast growth factor receptor 1 ISO ClinVar Annotator: match by term: Medulloblastoma ClinVar PMID:10766980 PMID:23819449 PMID:25705862 PMID:25741868 PMID:26619011 More... NCBI chr16:66,491,930...66,547,161
Ensembl chr16:66,494,042...66,547,350
JBrowse link
G Fli1 Fli-1 proto-oncogene, ETS transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:19270706 NCBI chr 8:30,831,422...30,950,468
Ensembl chr 8:30,832,753...30,950,433
JBrowse link
G Foxo3 forkhead box O3 ISO ClinVar Annotator: match by term: Medulloblastoma ClinVar PMID:26822237 NCBI chr20:45,669,708...45,764,606
Ensembl chr20:45,672,995...45,764,561
JBrowse link
G Gpr161 G protein-coupled receptor 161 ISO ClinVar Annotator: match by term: Medulloblastoma
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:23332756 PMID:23806086 PMID:25322266 PMID:25741868 PMID:28492532 More... NCBI chr13:77,578,257...77,623,661
Ensembl chr13:77,577,739...77,619,613
JBrowse link
G Gstm1 glutathione S-transferase mu 1 ISO DNA:deletion: : RGD PMID:18952980 RGD:5490237 NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411
JBrowse link
G Gstt1 glutathione S-transferase theta 1 ISO DNA:deletion: : RGD PMID:18952980 RGD:5490237 NCBI chr20:12,856,613...12,873,586
Ensembl chr20:12,856,669...12,873,585
JBrowse link
G Hic1 HIC ZBTB transcriptional repressor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18347096 NCBI chr10:60,014,520...60,019,475
Ensembl chr10:60,011,528...60,019,475
JBrowse link
G Idh1 isocitrate dehydrogenase (NADP(+)) 1 ISO ClinVar Annotator: match by term: MEDULLOBLASTOMA PREDISPOSITION SYNDROME ClinVar PMID:18772396 PMID:19657110 PMID:19798509 PMID:19818334 PMID:20946881 More... NCBI chr 9:66,534,146...66,563,703
Ensembl chr 9:66,534,146...66,563,708
JBrowse link
G Ifng interferon gamma ISS OMIM:155255 MouseDO NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375
JBrowse link
G Irs2 insulin receptor substrate 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19270706 NCBI chr16:78,488,249...78,512,482
Ensembl chr16:78,485,045...78,512,482
JBrowse link
G Kat6a lysine acetyltransferase 6A ISO CTD Direct Evidence: marker/mechanism CTD PMID:19270706 NCBI chr16:69,084,914...69,165,923
Ensembl chr16:69,084,914...69,163,606
JBrowse link
G Kdm4b lysine demethylase 4B ISO mRNA:increased expression:brain (human)
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:19270706 PMID:19270706 RGD:9587481 NCBI chr 9:1,158,737...1,237,233
Ensembl chr 9:1,158,752...1,236,543
JBrowse link
G Kdm4c lysine demethylase 4C ISO mRNA:increased expression:brain (human)
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:19270706 PMID:19270706 RGD:9587481 NCBI chr 5:88,100,710...88,306,821
Ensembl chr 5:88,100,733...88,306,818
JBrowse link
G L3mbtl2 L3MBTL histone methyl-lysine binding protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19270706 NCBI chr 7:113,186,303...113,209,706
Ensembl chr 7:113,186,370...113,207,489
JBrowse link
G L3mbtl3 L3MBTL histone methyl-lysine binding protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19270706 NCBI chr 1:18,988,763...19,089,247
Ensembl chr 1:18,990,618...19,089,263
JBrowse link
G Mpl MPL proto-oncogene, thrombopoietin receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:19270706 NCBI chr 5:131,973,895...131,987,472
Ensembl chr 5:131,973,895...131,986,797
JBrowse link
G Myc MYC proto-oncogene, bHLH transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:19270706 PMID:31694585 NCBI chr 7:93,593,705...93,598,633
Ensembl chr 7:93,593,705...93,598,630
JBrowse link
G Mycl MYCL proto-oncogene, bHLH transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:19270706 NCBI chr 5:135,274,713...135,281,584
Ensembl chr 5:135,274,748...135,281,582
JBrowse link
G Mycn MYCN proto-oncogene, bHLH transcription factor ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Medulloblastoma
CTD
ClinVar
PMID:19270706 PMID:26619011 NCBI chr 6:35,717,764...35,723,590
Ensembl chr 6:35,717,764...35,723,590
JBrowse link
G Nono non-POU domain containing, octamer-binding ISO ClinVar Annotator: match by term: Medulloblastoma ClinVar PMID:25741868 PMID:26822237 NCBI chr  X:66,554,131...66,571,992
Ensembl chr  X:66,554,098...66,571,952
JBrowse link
G Nras NRAS proto-oncogene, GTPase ISO ClinVar Annotator: match by term: MEDULLOBLASTOMA PREDISPOSITION SYNDROME ClinVar PMID:2407301 PMID:2674680 PMID:2989702 PMID:3102434 PMID:8120410 More... NCBI chr 2:190,582,885...190,593,509
Ensembl chr 2:190,582,918...190,591,626
JBrowse link
G Otx2 orthodenticle homeobox 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19270706 NCBI chr15:21,942,233...21,953,034
Ensembl chr15:21,943,191...21,953,416
JBrowse link
G Pdgfra platelet derived growth factor receptor alpha severity ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:19270706 PMID:25576913 RGD:13702904 NCBI chr14:33,005,838...33,054,347
Ensembl chr14:33,005,839...33,054,335
JBrowse link
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha ISO ClinVar Annotator: match by term: Medulloblastoma | ClinVar Annotator: match by term: Medulloblastoma, somatic
ClinVar Annotator: match by term: MEDULLOBLASTOMA PREDISPOSITION SYNDROME
ClinVar Annotator: match by term: MEDULLOBLASTOMA PREDISPOSITION SYNDROME | ClinVar Annotator: match by term: Medulloblastoma
ClinVar PMID:15016963 PMID:15254419 PMID:15520168 PMID:15608678 PMID:15647370 More... NCBI chr 2:115,175,275...115,249,034
Ensembl chr 2:115,174,984...115,249,032
JBrowse link
G Pik3cg phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma ISO CTD Direct Evidence: marker/mechanism CTD PMID:21652733 NCBI chr 6:48,766,778...48,802,098
Ensembl chr 6:48,766,864...48,802,043
JBrowse link
G Pramex1 PRAME like, X-linked 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16179254 NCBI chr  X:98,567,994...98,574,654
Ensembl chr  X:98,569,415...98,572,096
JBrowse link
G Prkar1a protein kinase cAMP-dependent type I regulatory subunit alpha ISO ClinVar Annotator: match by term: Medulloblastoma ClinVar PMID:26822237 PMID:28492532 NCBI chr10:94,621,042...94,639,534
Ensembl chr10:94,620,039...94,639,041
JBrowse link
G Prmt5 protein arginine methyltransferase 5 ISO CTD Direct Evidence: therapeutic CTD PMID:31694585 NCBI chr15:27,968,893...27,978,291
Ensembl chr15:27,968,910...27,978,296
JBrowse link
G Ptch1 patched 1 ISO
ISS
CTD Direct Evidence: marker/mechanism
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 chr17:1,542,705...1,607,730
Ensembl chr17:1,542,877...1,607,333
JBrowse link
G Ptch2 patched 2 ISO ClinVar Annotator: match by term: MEDULLOBLASTOMA PREDISPOSITION SYNDROME
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:25741868 PMID:28492532 PMID:31945512 NCBI chr 5:130,571,956...130,592,506
Ensembl chr 5:130,572,312...130,592,405
JBrowse link
G Rassf1 Ras association domain family member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21880625 NCBI chr 8:108,225,023...108,236,164
Ensembl chr 8:108,225,023...108,236,164
JBrowse link
G Rb1 RB transcriptional corepressor 1 ISO ClinVar Annotator: match by term: Medulloblastoma ClinVar
RGD
PMID:25741868 PMID:28492532 PMID:10783170 RGD:1302544 NCBI chr15:48,371,295...48,502,473
Ensembl chr15:48,371,296...48,502,302
JBrowse link
G Ret ret proto-oncogene ISO ClinVar Annotator: match by term: MEDULLOBLASTOMA PREDISPOSITION SYNDROME ClinVar PMID:11436122 PMID:24033266 PMID:25741868 PMID:28492532 PMID:36900197 NCBI chr 4:151,325,969...151,368,176
Ensembl chr 4:151,326,431...151,368,176
JBrowse link
G S100a10 S100 calcium binding protein A10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17579622 NCBI chr 2:179,221,012...179,229,659
Ensembl chr 2:179,220,887...179,229,661
JBrowse link
G S100a4 S100 calcium-binding protein A4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17579622 NCBI chr 2:176,090,951...176,093,258
Ensembl chr 2:176,091,804...176,093,254
JBrowse link
G S100a6 S100 calcium binding protein A6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17579622 NCBI chr 2:176,100,619...176,102,181
Ensembl chr 2:176,100,899...176,102,180
JBrowse link
G Scg5 secretogranin V ISO CTD Direct Evidence: marker/mechanism CTD PMID:17334394 NCBI chr 3:100,544,101...100,588,558
Ensembl chr 3:100,544,099...100,588,463
JBrowse link
G Scml2 Scm polycomb group protein like 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19270706 NCBI chr  X:33,523,179...33,677,672
Ensembl chr  X:33,524,530...33,652,742
JBrowse link
G Sf3b2 splicing factor 3b, subunit 2 ISO ClinVar Annotator: match by term: MEDULLOBLASTOMA PREDISPOSITION SYNDROME ClinVar PMID:26619011 NCBI chr 1:202,570,423...202,590,774
Ensembl chr 1:202,570,423...202,590,759
JBrowse link
G Skp2 S-phase kinase associated protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19270706 NCBI chr 2:58,161,226...58,189,293
Ensembl chr 2:58,161,229...58,189,338
JBrowse link
G Smarca4 SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4 ISO ClinVar Annotator: match by term: Medulloblastoma ClinVar PMID:23698369 PMID:26822237 PMID:26842758 PMID:28492532 NCBI chr 8:20,167,717...20,258,975
Ensembl chr 8:20,167,717...20,258,975
JBrowse link
G Smo smoothened, frizzled class receptor treatment ISO
ISS
ClinVar Annotator: match by term: Medulloblastoma
OMIM:155255
ClinVar
MouseDO
RGD
PMID:19726788 PMID:22679179 PMID:25759020 PMID:22084163 RGD:150521622 NCBI chr 4:58,343,626...58,373,823
Ensembl chr 4:58,343,529...58,373,829
JBrowse link
G Smyd4 SET and MYND domain containing 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19270706 NCBI chr10:60,200,067...60,246,387
Ensembl chr10:60,200,114...60,246,387
JBrowse link
G Stat3 signal transducer and activator of transcription 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19001435 NCBI chr10:85,811,206...85,863,057
Ensembl chr10:85,811,218...85,863,057
JBrowse link
G Strada STE20 related adaptor alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:21652733 NCBI chr10:91,094,849...91,123,890
Ensembl chr10:91,094,687...91,123,830
JBrowse link
G Sufu SUFU negative regulator of hedgehog signaling ISO
IGI
ClinVar Annotator: match by term: MEDULLOBLASTOMA PREDISPOSITION SYNDROME | ClinVar Annotator: match by term: Medulloblastoma
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
RGD
PMID:12068298 PMID:17102621 PMID:19533801 PMID:19833601 PMID:21188540 More... RGD:1599191, RGD:150573693 NCBI chr 1:245,257,725...245,355,576
Ensembl chr 1:245,257,768...245,355,577
JBrowse link
G Tp53 tumor protein p53 disease_progression ISO ClinVar Annotator: match by term: MEDULLOBLASTOMA PREDISPOSITION SYNDROME
ClinVar Annotator: match by term: MEDULLOBLASTOMA PREDISPOSITION SYNDROME | ClinVar Annotator: match by term: Medulloblastoma
ClinVar Annotator: match by term: Medulloblastoma | ClinVar Annotator: match by term: Medulloblastoma, somatic
protein:increased expression:nucleus:
ClinVar
RGD
PMID:1359493 PMID:1565143 PMID:1565144 PMID:1631137 PMID:1644930 More... RGD:1302544, RGD:8547823 NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
JBrowse link
G Tsc2 TSC complex subunit 2 ISO DNA:polymorphism:intron RGD PMID:11603814 RGD:11072879 NCBI chr10:13,621,135...13,655,773
Ensembl chr10:13,621,136...13,655,951
JBrowse link
G Tubb4a tubulin, beta 4A class IVa ISO ClinVar Annotator: match by term: Classic medulloblastoma ClinVar NCBI chr 9:1,917,841...1,925,286
Ensembl chr 9:1,917,845...1,925,291
JBrowse link
G Vav1 vav guanine nucleotide exchange factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19270706 NCBI chr 9:2,161,985...2,209,951
Ensembl chr 9:2,157,900...2,208,937
JBrowse link
G Wrn WRN RecQ like helicase ISO ClinVar Annotator: match by term: Medulloblastoma ClinVar PMID:8968742 PMID:9225981 PMID:16673358 PMID:16786514 PMID:20301687 More... NCBI chr16:58,763,517...58,898,604
Ensembl chr16:58,763,504...58,895,450
JBrowse link
Megalencephaly-Polydactyly Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mycn MYCN proto-oncogene, bHLH transcription factor ISO ClinVar Annotator: match by term: Megalencephaly-polydactyly syndrome OMIM
ClinVar
PMID:25741868 PMID:30573562 PMID:37710961 NCBI chr 6:35,717,764...35,723,590
Ensembl chr 6:35,717,764...35,723,590
JBrowse link
meninges sarcoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tp53 tumor protein p53 IMP RGD PMID:27528400 RGD:12738450 NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
JBrowse link
meningioma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Akt1 AKT serine/threonine kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23334667 NCBI chr 6:131,713,716...131,735,319
Ensembl chr 6:131,713,720...131,733,921
JBrowse link
G Alad aminolevulinate dehydratase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16140629 NCBI chr 5:75,961,993...75,972,334
Ensembl chr 5:75,961,993...75,972,474
JBrowse link
G Arhgap28 Rho GTPase activating protein 28 severity ISO RGD PMID:19885562 RGD:401827824 NCBI chr 9:107,832,584...107,998,030
Ensembl chr 9:107,833,330...107,998,000
JBrowse link
G Bap1 BRCA1 associated deubiquitinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25231345 NCBI chr16:6,446,709...6,455,535
Ensembl chr16:6,446,709...6,455,535
JBrowse link
G Cst3 cystatin C ISO CTD Direct Evidence: marker/mechanism CTD PMID:19747051 NCBI chr 3:136,336,923...136,340,796
Ensembl chr 3:136,336,920...136,340,822
JBrowse link
G Cstb cystatin B ISO CTD Direct Evidence: marker/mechanism CTD PMID:19747051 NCBI chr20:10,245,462...10,247,505
Ensembl chr20:10,245,462...10,247,526
JBrowse link
G Ctsl cathepsin L ISO CTD Direct Evidence: marker/mechanism CTD PMID:19747051 NCBI chr17:764,370...770,533
Ensembl chr17:764,309...770,548
JBrowse link
G Dnmt1 DNA methyltransferase 1 ISO ClinVar Annotator: match by term: Meningioma ClinVar NCBI chr 8:19,440,611...19,486,659
Ensembl chr 8:19,440,611...19,486,659
JBrowse link
G Epb41l3 erythrocyte membrane protein band 4.1-like 3 ISO RGD PMID:10888600 RGD:1300356 NCBI chr 9:109,056,178...109,260,607
Ensembl chr 9:109,016,113...109,260,607
JBrowse link
G Gpx3 glutathione peroxidase 3 severity ISO RGD PMID:19885562 RGD:401827824 NCBI chr10:39,028,624...39,036,695
Ensembl chr10:39,028,570...39,037,035
JBrowse link
G Gstm3 glutathione S-transferase mu 3 ISO DNA: deletion: intron 6 RGD PMID:16598069 RGD:5688743 NCBI chr 2:195,590,450...195,612,578
Ensembl chr 2:195,607,289...195,612,475
JBrowse link
G Gstm5 glutathione S-transferase, mu 5 ISO DNA: deletion: intron 6 RGD PMID:16598069 RGD:5688743 NCBI chr 2:195,531,599...195,534,562
Ensembl chr 2:195,531,495...195,534,553
JBrowse link
G Hes1 hes family bHLH transcription factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21127729 NCBI chr11:70,705,763...70,708,176
Ensembl chr11:70,705,764...70,708,192
JBrowse link
G Hgf hepatocyte growth factor disease_progression ISO protein:increased expression:brain: RGD PMID:12115353 RGD:8548633 NCBI chr 4:18,673,736...18,745,582
Ensembl chr 4:18,677,101...18,745,409
JBrowse link
G Kmt2d lysine methyltransferase 2D disease_progression ISO RGD PMID:26240495 RGD:155582218 NCBI chr 7:129,980,744...130,022,088
Ensembl chr 7:129,962,887...130,020,325
JBrowse link
G Mllt10 MLLT10, histone lysine methyltransferase DOT1L cofactor ISO CTD Direct Evidence: marker/mechanism CTD PMID:21804547 NCBI chr17:80,821,870...80,949,349
Ensembl chr17:80,822,556...80,949,345
JBrowse link
G Mn1 MN1 proto-oncogene, transcriptional regulator ISO DNA:translocation RGD PMID:16398473 PMID:7731706 RGD:1624321, RGD:1600423 NCBI chr12:45,181,794...45,220,959
Ensembl chr12:45,183,085...45,221,651
JBrowse link
G Mtrr 5-methyltetrahydrofolate-homocysteine methyltransferase reductase susceptibility ISO DNA:SNP: :66A>G, (rs1801394) (human) RGD PMID:18483342 RGD:5508186 NCBI chr 1:34,866,991...34,899,425
Ensembl chr 1:34,867,089...34,899,425
JBrowse link
G Nf2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor ISO ClinVar Annotator: match by term: Meningioma
DNA:loss of heterozygosity
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
RGD
PMID:7868131 PMID:8162072 PMID:8379998 PMID:8882871 PMID:9643284 More... RGD:1624321, RGD:150530508 NCBI chr14:79,627,399...79,710,709
Ensembl chr14:79,627,399...79,710,667
JBrowse link
G Pdgfb platelet derived growth factor subunit B ISO ClinVar Annotator: match by term: Meningioma ClinVar PMID:2212004 PMID:3133569 PMID:3969118 NCBI chr 7:111,539,444...111,557,984
Ensembl chr 7:111,540,345...111,557,984
JBrowse link
G Pgr progesterone receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:8008172 PMID:19731987 PMID:19747051 NCBI chr 8:6,072,673...6,131,552
Ensembl chr 8:6,072,673...6,131,344
JBrowse link
G Pten phosphatase and tensin homolog ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Meningioma
CTD
ClinVar
PMID:792966 PMID:12085208 PMID:17873882 PMID:19340001 PMID:19458356 More... NCBI chr 1:230,630,443...230,697,070
Ensembl chr 1:230,630,338...230,696,838
JBrowse link
G Smarcb1 SWI/SNF related BAF chromatin remodeling complex subunit B1 ISO DNA:missense mutation, loss of heterozygosity:cds: c.143C>T (human) RGD PMID:22038540 RGD:155804288 NCBI chr20:12,741,164...12,763,616
Ensembl chr20:12,741,477...12,763,620
JBrowse link
G Smarce1 SWI/SNF related BAF chromatin remodeling complex subunit E1 ISO DNA:multiple:multiple (human)
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:35681054 PMID:29409008 RGD:151708704 NCBI chr10:84,159,270...84,180,547
Ensembl chr10:84,159,275...84,179,989
JBrowse link
G Smo smoothened, frizzled class receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:23334667 NCBI chr 4:58,343,626...58,373,823
Ensembl chr 4:58,343,529...58,373,829
JBrowse link
G Spon2 spondin 2 severity ISO RGD PMID:19885562 RGD:401827824 NCBI chr14:77,505,695...77,518,001
Ensembl chr14:77,511,901...77,517,996
JBrowse link
G Xrcc1 X-ray repair cross complementing 1 susceptibility ISO DNA:SNP:exon 10: p.R399Q (human) RGD PMID:18330515 RGD:401827274 NCBI chr 1:80,140,495...80,168,705
Ensembl chr 1:80,141,207...80,168,701
JBrowse link
G Xrcc3 X-ray repair cross complementing 3 susceptibility ISO DNA:SNP:exon 8: p.T241M (rs861539) (Human) RGD PMID:18330515 RGD:401827274 NCBI chr 6:130,863,405...130,873,765
Ensembl chr 6:130,863,959...130,872,444
JBrowse link
Merkel cell carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cd68 Cd68 molecule ISO protein:increased expression:tumor (human) RGD PMID:22050913 RGD:40925916 NCBI chr10:54,381,814...54,383,693
Ensembl chr10:54,381,815...54,383,697
JBrowse link
G Fgfr3 fibroblast growth factor receptor 3 ISO mRNA:decreased expression:skin (human) RGD PMID:28359267 RGD:38500206 NCBI chr14:76,987,242...77,002,671
Ensembl chr14:76,987,993...77,003,341
JBrowse link
G Myc MYC proto-oncogene, bHLH transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:25277525 NCBI chr 7:93,593,705...93,598,633
Ensembl chr 7:93,593,705...93,598,630
JBrowse link
G Spa17 sperm autoantigenic protein 17 ISO mRNA,protein:increased expression:nucleus RGD PMID:31218705 RGD:27226803 NCBI chr 8:37,307,432...37,318,519
Ensembl chr 8:37,307,557...37,318,639
JBrowse link
Nerve Sheath Neoplasms term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdkn2a cyclin-dependent kinase inhibitor 2A ISO CTD Direct Evidence: marker/mechanism CTD PMID:25240281 NCBI chr 5:103,984,949...103,992,143
Ensembl chr 5:103,984,949...104,003,149
JBrowse link
G Eed embryonic ectoderm development ISO CTD Direct Evidence: marker/mechanism CTD PMID:25240281 NCBI chr 1:143,867,875...143,895,008
Ensembl chr 1:143,867,875...143,894,974
JBrowse link
G Foxr2 forkhead box R2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23685747 NCBI chr  X:18,242,420...18,276,095
Ensembl chr  X:18,244,255...18,245,163
JBrowse link
G Hgf hepatocyte growth factor ISO protein:increased expression: : RGD PMID:9308731 RGD:2317564 NCBI chr 4:18,673,736...18,745,582
Ensembl chr 4:18,677,101...18,745,409
JBrowse link
G Met MET proto-oncogene, receptor tyrosine kinase disease_progression ISO protein:increased expression:tumor (human) RGD PMID:9308731 RGD:2317564 NCBI chr 4:45,790,456...45,898,139
Ensembl chr 4:45,790,791...45,897,876
JBrowse link
G Nf1 neurofibromin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20176786 PMID:25240281 NCBI chr10:64,306,027...64,539,112
Ensembl chr10:64,306,301...64,536,658
JBrowse link
G Pten phosphatase and tensin homolog disease_progression ISO RGD PMID:22700876 RGD:12859040 NCBI chr 1:230,630,443...230,697,070
Ensembl chr 1:230,630,338...230,696,838
JBrowse link
G Suz12 SUZ12 polycomb repressive complex 2 subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:25240281 PMID:25305755 NCBI chr10:64,967,035...65,012,916
Ensembl chr10:64,966,967...65,012,738
JBrowse link
G Tp53 tumor protein p53 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20176786 NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
JBrowse link
neurilemmoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atad5 ATPase family, AAA domain containing 5 ISO mRNA:increased expression:neural tissue (human) RGD PMID:20844836 RGD:11552594 NCBI chr10:65,070,682...65,118,489
Ensembl chr10:65,070,689...65,117,845
JBrowse link
G Axl Axl receptor tyrosine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:25551830 NCBI chr 1:81,265,088...81,296,278
Ensembl chr 1:81,265,088...81,296,265
JBrowse link
G Cdkn2a cyclin-dependent kinase inhibitor 2A ISO DNA,protein:deletion,decreased expression: : RGD PMID:10595918 RGD:1358481 NCBI chr 5:103,984,949...103,992,143
Ensembl chr 5:103,984,949...104,003,149
JBrowse link
G Eed embryonic ectoderm development ISO CTD Direct Evidence: marker/mechanism CTD PMID:25119042 NCBI chr 1:143,867,875...143,895,008
Ensembl chr 1:143,867,875...143,894,974
JBrowse link
G Kdr kinase insert domain receptor ISO mRNA:decreased expression:brain: RGD PMID:17570036 RGD:8552334 NCBI chr14:32,217,871...32,261,018
Ensembl chr14:32,217,871...32,261,018
JBrowse link
G Lztr1 leucine zipper like post translational regulator 1 ISO DNA:missense mutation:cds,multiple (human) RGD PMID:24362817 RGD:151676717 NCBI chr11:83,487,717...83,503,896
Ensembl chr11:83,487,717...83,503,633
JBrowse link
G Nf1 neurofibromin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25119042 NCBI chr10:64,306,027...64,539,112
Ensembl chr10:64,306,301...64,536,658
JBrowse link
G Nf2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor ISO DNA:loss of heterozygosity RGD PMID:7669741 RGD:150530508 NCBI chr14:79,627,399...79,710,709
Ensembl chr14:79,627,399...79,710,667
JBrowse link
G Pecam1 platelet and endothelial cell adhesion molecule 1 severity ISO protein:increased expression:tumor (human) RGD PMID:22555941 RGD:6771228 NCBI chr10:91,590,521...91,652,279
Ensembl chr10:91,590,521...91,652,116
JBrowse link
G Serpine1 serpin family E member 1 ISO mRNA,protein:increased expression:schwann cell RGD PMID:14963743 RGD:13208544 NCBI chr12:19,601,272...19,611,657
Ensembl chr12:19,601,272...19,611,657
JBrowse link
G Six1 SIX homeobox 1 ISO mRNA:increased expression:Schwann cell (human) RGD PMID:19901965 RGD:11561959 NCBI chr 6:91,746,739...91,751,975
Ensembl chr 6:91,746,739...91,751,975
JBrowse link
G Smarcb1 SWI/SNF related BAF chromatin remodeling complex subunit B1 ISO ClinVar Annotator: match by term: Schwannoma ClinVar PMID:18647326 PMID:22434358 PMID:22949514 PMID:24933152 PMID:25631985 More... NCBI chr20:12,741,164...12,763,616
Ensembl chr20:12,741,477...12,763,620
JBrowse link
G Snca synuclein alpha IEP protein:increased expression:cytoplasm RGD PMID:11810180 RGD:6218996 NCBI chr 4:89,696,420...89,797,240
Ensembl chr 4:89,696,420...89,796,262
JBrowse link
G Suz12 SUZ12 polycomb repressive complex 2 subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:25119042 NCBI chr10:64,967,035...65,012,916
Ensembl chr10:64,966,967...65,012,738
JBrowse link
G Wt1 WT1 transcription factor ISO CTD Direct Evidence: therapeutic CTD PMID:25474318 NCBI chr 3:91,566,540...91,613,653
Ensembl chr 3:91,567,001...91,613,643
JBrowse link
neuroblastoma term browser