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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
For additional species annotation, visit the Alliance of Genome Resources.


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Nerve Tissue Neoplasms term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ENO2 enolase 2 ISO RGD PMID:17537454 RGD:2293746 NCBI chr 5:63,799,927...63,809,067
Ensembl chr 5:63,799,339...63,836,688
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 6:167,356,363...167,361,370
Ensembl chr 6:167,357,662...167,358,674
JBrowse link
G BDNF brain derived neurotrophic factor ISO mRNA:increased expression:peripheral nerve: RGD PMID:19937367 RGD:8655552 NCBI chr 2:32,623,668...32,679,293
Ensembl chr 2:32,623,268...32,679,164
JBrowse link
G CAV1 caveolin 1 ISO RGD PMID:20881564 RGD:8661782 NCBI chr18:29,648,120...29,682,451
Ensembl chr18:29,649,992...29,682,465
JBrowse link
G CDKN1A cyclin dependent kinase inhibitor 1A ISO mRNA,protein:decreased expression:myelinated nerve: RGD PMID:20600642 RGD:8661792 NCBI chr 7:32,354,776...32,363,771
Ensembl chr 7:32,359,455...32,363,761
JBrowse link
G CYP2E1 cytochrome P450 family 2 subfamily E member 1 ISO DNA:snp:promoter:c.-1053C>T (human) RGD PMID:12540498 RGD:1358568 NCBI chr14:141,690,737...141,703,078
Ensembl chr14:141,690,426...141,736,818
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 6:51,734,318...51,757,508
Ensembl chr 6:51,734,319...51,779,624
JBrowse link
G FGFR1 fibroblast growth factor receptor 1 disease_progression ISO RGD PMID:15354013 RGD:11567268 NCBI chr15:48,053,895...48,106,634
Ensembl chr15:48,053,340...48,106,746
JBrowse link
G GDNF glial cell derived neurotrophic factor ISO mRNA:increased expression:peripheral nerve: RGD PMID:19937367 RGD:8655552 NCBI chr16:22,936,602...22,965,929
Ensembl chr16:22,936,601...22,965,886
JBrowse link
G IGF1 insulin like growth factor 1 susceptibility ISO protein:increased expression:serum: RGD PMID:21788435 RGD:8548833 NCBI chr 5:81,762,027...81,909,253
Ensembl chr 5:81,775,970...81,848,037
JBrowse link
G IGFBP3 insulin like growth factor binding protein 3 susceptibility ISO protein:increased expression:serum: RGD PMID:21788435 RGD:8548833 NCBI chr18:50,002,921...50,009,425 JBrowse link
G NF2 neurofibromin 2 ISO protein:decreased expression:myelinated nerve: RGD PMID:20600642 RGD:8661792 NCBI chr14:46,653,869...46,726,421
Ensembl chr14:46,653,902...46,731,999
JBrowse link
G VEGFA vascular endothelial growth factor A ISO RGD PMID:14660915 RGD:8547959 NCBI chr 7:38,746,393...38,762,282
Ensembl chr 7:38,746,052...38,761,038
JBrowse link
adult pineal parenchymal tumor term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MKI67 marker of proliferation Ki-67 severity ISO RGD PMID:21696422 RGD:6483520 NCBI chr14:137,266,622...137,296,312 JBrowse link
amelanotic melanoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IFNB1 interferon beta 1 ISO CTD Direct Evidence: therapeutic CTD PMID:15990972 NCBI chr 1:201,850,935...201,851,495
Ensembl chr 1:201,850,935...201,851,495
JBrowse link
astroblastoma 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: Neuroepithelial neoplasm ClinVar PMID:25186627 PMID:25741868 PMID:27696107 PMID:27997549 PMID:28492532 NCBI chr 2:116,913,354...116,985,303
Ensembl chr 2:116,812,582...117,034,912
JBrowse link
G MIR542 microRNA mir-542 disease_progression ISO RGD PMID:26286747 RGD:13782052 NCBI chr  X:110,382,597...110,382,676
Ensembl chr  X:110,382,597...110,382,676
JBrowse link
G PIK3R1 phosphoinositide-3-kinase regulatory subunit 1 severity ISO RGD PMID:26286747 PMID:26956052 RGD:11343921 RGD:13782052 NCBI chr16:46,434,757...46,523,626
Ensembl chr16:46,434,873...46,523,609
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 chr 8:69,643,427...69,663,152
Ensembl chr 8:69,531,487...69,718,304
JBrowse link
G ENO2 enolase 2 ISO RGD PMID:17345775 RGD:2293739 NCBI chr 5:63,799,927...63,809,067
Ensembl chr 5:63,799,339...63,836,688
JBrowse link
G MEN1 menin 1 ISO DNA:loss of heterozygosity:lung:PYGM,D11S449,D11S906(human) RGD PMID:16465412 RGD:2317351 NCBI chr 2:7,358,130...7,364,952
Ensembl chr 2:7,357,951...7,365,128
JBrowse link
G MGMT O-6-methylguanine-DNA methyltransferase ISO DNA:hypermethylation:promoter (human) RGD PMID:12584572 RGD:2317635 NCBI chr14:138,502,005...138,771,543
Ensembl chr14:138,499,161...138,779,938
JBrowse link
G MIR10A microRNA mir-10a ISO CTD Direct Evidence: marker/mechanism CTD PMID:25105010 NCBI chr12:24,833,644...24,833,723
Ensembl chr12:24,833,627...24,833,730
JBrowse link
G MIR127 microRNA mir-127 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25105010 NCBI chr 7:121,709,636...121,709,715
Ensembl chr 7:121,709,640...121,709,720
JBrowse link
G MIR136 microRNA mir-136 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25105010 NCBI chr 7:121,711,328...121,711,409
Ensembl chr 7:121,711,325...121,711,414
JBrowse link
G MIR155 microRNA mir-155 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25105010 NCBI chr13:189,138,822...189,138,902
Ensembl chr13:189,138,822...189,138,902
JBrowse link
G MIR193A microRNA mir-193a ISO CTD Direct Evidence: marker/mechanism CTD PMID:25105010 NCBI chr12:43,336,969...43,337,048
Ensembl chr12:43,336,969...43,337,048
JBrowse link
G MIR222 microRNA mir-222 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25105010 NCBI chr  X:40,571,808...40,571,887
Ensembl chr  X:40,571,808...40,571,887
JBrowse link
G MIR224 microRNA mir-224 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25105010 NCBI chr  X:123,283,427...123,283,507
Ensembl chr  X:123,283,427...123,283,507
JBrowse link
G MIR30A microRNA mir-30a ISO CTD Direct Evidence: marker/mechanism CTD PMID:25105010 NCBI chr 1:51,412,827...51,412,933
Ensembl chr 1:51,412,827...51,412,933
JBrowse link
G MIR34C-1 microRNA mir-34c-1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25105010 NCBI chr 9:39,280,278...39,280,357
Ensembl chr 9:39,280,278...39,280,357
JBrowse link
G MIR432 microRNA mir-432 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25105010 NCBI chr 7:121,711,137...121,711,216
Ensembl chr 7:121,711,137...121,711,216
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 NCBI chr 2:89,230,660...89,255,830 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 5:15,049,827...15,091,622 JBrowse link
G MSH3 mutS homolog 3 ISO ClinVar Annotator: match by term: Cavernous Sinus Meningioma ClinVar NCBI chr 2:89,255,647...89,456,102
Ensembl chr 2:89,250,189...89,453,936
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 3:92,792,590...92,814,154
Ensembl chr 3:92,785,664...92,814,128
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 chr11:49,077,152...49,088,218
Ensembl chr11:49,077,492...49,088,345
JBrowse link
G ALG11 ALG11 alpha-1,2-mannosyltransferase ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr11:15,851,352...15,876,452
Ensembl chr11:15,851,711...15,876,392
JBrowse link
G ARL11 ADP ribosylation factor like GTPase 11 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr11:18,097,723...18,100,425
Ensembl chr11:18,067,499...18,100,413
JBrowse link
G ATP7B ATPase copper transporting beta ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr11:15,892,549...15,942,070 JBrowse link
G BORA BORA aurora kinase A activator ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr11:45,017,651...45,045,127
Ensembl chr11:45,018,352...45,045,127
JBrowse link
G CAB39L calcium binding protein 39 like ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr11:18,297,669...18,400,398
Ensembl chr11:18,298,018...18,400,398
JBrowse link
G CCDC70 coiled-coil domain containing 70 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr11:15,976,814...15,978,050
Ensembl chr11:15,977,286...15,977,945
JBrowse link
G CDADC1 cytidine and dCMP deaminase domain containing 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr11:18,467,508...18,518,137
Ensembl chr11:18,458,299...18,518,146
JBrowse link
G CKAP2 cytoskeleton associated protein 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr11:15,751,717...15,767,068
Ensembl chr11:15,751,801...15,766,497
JBrowse link
G CLN5 CLN5 intracellular trafficking protein ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr11:49,105,822...49,128,425 JBrowse link
G CNMD chondromodulin ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr11:25,959,192...25,994,773
Ensembl chr11:25,961,915...25,994,651
JBrowse link
G COMMD6 COMM domain containing 6 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr11:47,795,110...47,818,543
Ensembl chr11:47,543,814...47,818,561
JBrowse link
G CYSLTR2 cysteinyl leukotriene receptor 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr11:18,988,665...19,011,015
Ensembl chr11:18,987,174...19,011,015
JBrowse link
G DACH1 dachshund family transcription factor 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr11:43,765,386...44,187,766
Ensembl chr11:43,764,270...44,188,352
JBrowse link
G DIAPH3 diaphanous related formin 3 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr11:32,492,735...32,994,854
Ensembl chr11:32,492,740...32,994,837
JBrowse link
G DIS3 DIS3 homolog, exosome endoribonuclease and 3'-5' exoribonuclease ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr11:45,046,040...45,075,973
Ensembl chr11:45,044,508...45,075,910
JBrowse link
G DLEU7 deleted in lymphocytic leukemia 7 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr11:16,970,802...16,990,609
Ensembl chr11:16,972,554...16,989,394
JBrowse link
G EBPL EBP like ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr11:18,039,978...18,150,729
Ensembl chr11:18,040,010...18,087,644
JBrowse link
G EDNRB endothelin receptor type B ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr11:50,073,300...50,102,879
Ensembl chr11:50,072,554...50,102,884
JBrowse link
G FAM124A family with sequence similarity 124 member A ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr11:16,572,298...16,658,094
Ensembl chr11:16,572,295...16,658,162
JBrowse link
G FBXL3 F-box and leucine rich repeat protein 3 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr11:49,131,663...49,151,380
Ensembl chr11:49,130,182...49,151,009
JBrowse link
G FNDC3A fibronectin type III domain containing 3A ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr11:18,564,280...18,757,742
Ensembl chr11:18,564,280...18,757,869
JBrowse link
G INTS6 integrator complex subunit 6 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr11:16,373,376...16,468,246
Ensembl chr11:16,372,805...16,468,252
JBrowse link
G ITM2B integral membrane protein 2B ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr11:19,349,088...19,377,931
Ensembl chr11:19,349,133...19,377,917
JBrowse link
G KCNRG potassium channel regulator ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr11:17,784,243...17,796,826
Ensembl chr11:17,784,996...17,793,804
JBrowse link
G KCTD12 potassium channel tetramerization domain containing 12 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr11:49,025,134...49,033,208
Ensembl chr11:48,943,477...49,031,093
JBrowse link
G KLF12 Kruppel like factor 12 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr11:45,981,096...46,655,472
Ensembl chr11:45,985,542...46,459,791
JBrowse link
G KLF5 Kruppel like factor 5 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr11:45,370,009...45,386,673
Ensembl chr11:45,369,797...45,388,314
JBrowse link
G KLHL1 kelch like family member 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr11:42,033,842...42,420,931
Ensembl chr11:42,033,842...42,419,770
JBrowse link
G KPNA3 karyopherin subunit alpha 3 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr11:17,948,210...18,033,818
Ensembl chr11:17,947,850...18,033,787
JBrowse link
G LMO7 LIM domain 7 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr11:47,911,076...48,133,449
Ensembl chr11:47,911,096...48,133,446
JBrowse link
G LOC100155738 protocadherin-8 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr11:26,127,398...26,133,481
Ensembl chr11:26,127,399...26,132,123
JBrowse link
G LOC106505279 uncharacterized LOC106505279 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr11:16,021,127...16,034,650
Ensembl chr11:16,008,665...16,034,395
JBrowse link
G LPAR6 lysophosphatidic acid receptor 6 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr11:19,216,305...19,220,913 JBrowse link
G MED4 mediator complex subunit 4 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr11:19,551,858...19,566,915
Ensembl chr11:19,551,863...19,566,926
JBrowse link
G MIR15A microRNA mir-15a ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr11:17,757,463...17,757,541
Ensembl chr11:17,757,460...17,757,554
JBrowse link
G MIR16-2 microRNA mir-16-2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr11:17,757,606...17,757,684
Ensembl chr11:17,757,601...17,757,687
JBrowse link
G MLNR motilin receptor ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr11:18,541,958...18,544,111
Ensembl chr11:18,542,028...18,544,025
JBrowse link
G MYCBP2 MYC binding protein 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr11:49,163,969...49,432,865
Ensembl chr11:49,164,141...49,432,858
JBrowse link
G MZT1 mitotic spindle organizing protein 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr11:45,000,735...45,019,009
Ensembl chr11:44,999,320...45,018,862
JBrowse link
G NDFIP2 Nedd4 family interacting protein 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr11:51,493,981...51,560,305
Ensembl chr11:51,420,166...51,560,305
JBrowse link
G NEK3 NIMA related kinase 3 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr11:15,772,578...15,798,424
Ensembl chr11:15,772,844...15,798,420
JBrowse link
G NEK5 NIMA related kinase 5 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr11:15,799,068...15,862,236
Ensembl chr11:15,801,354...15,862,231
JBrowse link
G NUDT15 nudix hydrolase 15 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr11:19,572,963...19,584,565
Ensembl chr11:19,572,644...19,584,538
JBrowse link
G OBI1 ORC ubiquitin ligase 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr11:50,741,893...50,786,824
Ensembl chr11:50,740,916...50,786,774
JBrowse link
G OLFM4 olfactomedin 4 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr11:26,252,948...26,375,531
Ensembl chr11:26,350,203...26,375,716
JBrowse link
G PCDH17 protocadherin 17 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr11:30,510,779...30,611,732
Ensembl chr11:30,511,261...30,611,727
JBrowse link
G PCDH20 protocadherin 20 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr11:34,384,507...34,390,265 JBrowse link
G PCDH9 protocadherin 9 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr11:38,522,221...39,455,166
Ensembl chr11:38,524,034...39,454,240
JBrowse link
G PHF11 PHD finger protein 11 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr11:18,205,073...18,252,082
Ensembl chr11:18,205,072...18,251,949
JBrowse link
G PIBF1 progesterone immunomodulatory binding factor 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr11:45,076,046...45,362,708
Ensembl chr11:45,076,061...45,362,891
JBrowse link
G POU4F1 POU class 4 homeobox 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr11:50,729,746...50,732,626
Ensembl chr11:50,730,428...50,732,340
JBrowse link
G RB1 RB transcriptional corepressor 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr11:19,186,754...19,317,642
Ensembl chr11:19,186,759...19,317,690
JBrowse link
G RBM26 RNA binding motif protein 26 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr11:51,337,388...51,421,746
Ensembl chr11:51,337,488...51,420,865
JBrowse link
G RCBTB1 RCC1 and BTB domain containing protein 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr11:18,132,013...18,197,759
Ensembl chr11:18,040,110...18,197,751
JBrowse link
G RCBTB2 RCC1 and BTB domain containing protein 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr11:19,081,841...19,182,488
Ensembl chr11:19,105,305...19,182,488
JBrowse link
G RNASEH2B ribonuclease H2 subunit B ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr11:16,825,799...16,911,959
Ensembl chr11:16,829,801...16,911,879
JBrowse link
G SCEL sciellin ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr11:49,651,589...49,777,777
Ensembl chr11:49,651,673...49,775,448
JBrowse link
G SERPINE3 serpin family E member 3 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr11:16,465,521...16,500,580
Ensembl chr11:16,466,475...16,500,558
JBrowse link
G SETDB2 SET domain bifurcated histone lysine methyltransferase 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr11:18,252,525...18,298,234
Ensembl chr11:18,252,527...18,297,826
JBrowse link
G SLAIN1 SLAIN motif family member 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr11:49,807,976...49,886,829
Ensembl chr11:49,807,994...49,886,820
JBrowse link
G SLITRK1 SLIT and NTRK like family member 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr11:54,950,669...54,955,768
Ensembl chr11:54,950,673...54,955,949
JBrowse link
G SLITRK6 SLIT and NTRK like family member 6 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr11:56,508,713...56,522,270
Ensembl chr11:56,508,709...56,522,212
JBrowse link
G SPRY2 sprouty RTK signaling antagonist 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr11:52,153,695...52,158,766
Ensembl chr11:52,153,704...52,160,497
JBrowse link
G SPRYD7 SPRY domain containing 7 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr11:17,849,011...17,870,090
Ensembl chr11:17,848,852...17,872,257
JBrowse link
G SUCLA2 succinate-CoA ligase ADP-forming subunit beta ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr11:19,616,415...19,670,667
Ensembl chr11:19,616,499...19,675,791
JBrowse link
G SUGT1 SGT1 homolog, MIS12 kinetochore complex assembly cochaperone ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr11:25,905,442...25,960,665
Ensembl chr11:25,906,010...25,954,210
JBrowse link
G TBC1D4 TBC1 domain family member 4 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr11:47,543,808...47,760,928
Ensembl chr11:47,543,814...47,818,561
JBrowse link
G TDRD3 tudor domain containing 3 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr11:33,257,556...33,440,131
Ensembl chr11:33,258,063...33,440,127
JBrowse link
G THSD1 thrombospondin type 1 domain containing 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr11:15,668,435...15,698,031
Ensembl chr11:15,667,640...15,697,872
JBrowse link
G TRIM13 tripartite motif containing 13 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr11:17,785,031...17,850,005
Ensembl chr11:17,792,467...17,849,732
JBrowse link
G UCHL3 ubiquitin C-terminal hydrolase L3 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr11:47,829,037...47,885,800
Ensembl chr11:47,829,103...47,887,629
JBrowse link
G VPS36 vacuolar protein sorting 36 homolog ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr11:15,701,370...15,735,469
Ensembl chr11:15,701,370...15,772,693
JBrowse link
G WDFY2 WD repeat and FYVE domain containing 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr11:16,086,872...16,272,513
Ensembl chr11:16,078,058...16,301,828
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: VAN ASPEREN SYNDROME
ClinVar Annotator: match by term: Macrocephaly, macrosomia, facial dysmorphism syndrome
CTD
ClinVar
PMID:17632510 PMID:21681106 PMID:25741868 PMID:27535533 PMID:28135719 PMID:30665703 PMID:30763456 NCBI chr12:42,793,755...42,808,937
Ensembl chr12:42,790,187...42,808,919
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 PMID:9824584 PMID:10083733 PMID:11247896 PMID:12172928 PMID:12486240 PMID:15311282 PMID:15771908 PMID:16088911 PMID:17293347 PMID:18794146 PMID:19029688 PMID:20649969 PMID:20924072 PMID:22135120 PMID:23159591 PMID:25590978 PMID:25741868 PMID:26446593 PMID:26467025 PMID:26625971 PMID:26840078 PMID:27081525 PMID:28492532 NCBI chr 2:116,913,354...116,985,303
Ensembl chr 2:116,812,582...117,034,912
JBrowse link
G BMPR1A bone morphogenetic protein receptor type 1A ISO ClinVar Annotator: match by term: Craniopharyngioma ClinVar PMID:25741868 PMID:28492532 NCBI chr14:87,743,270...87,891,790
Ensembl chr14:87,742,459...87,891,793
JBrowse link
G BRAF B-Raf proto-oncogene, serine/threonine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:24413733 NCBI chr18:8,957,963...9,132,558
Ensembl chr18:8,957,959...9,132,553
JBrowse link
G BRCA1 BRCA1 DNA repair associated ISO ClinVar Annotator: match by term: Craniopharyngioma ClinVar PMID:1157798 PMID:11802208 PMID:12161611 PMID:15744030 PMID:15923272 PMID:16489001 PMID:17403394 PMID:18036263 PMID:19404736 PMID:20516115 PMID:21702907 PMID:22034289 PMID:22889855 PMID:23867111 PMID:24055113 PMID:25637381 PMID:25741868 PMID:26287763 PMID:26467025 PMID:26689913 PMID:27495310 PMID:28024868 PMID:28492532 PMID:28781887 PMID:30209399 PMID:30257991 PMID:30263132 PMID:30458859 PMID:30678073 PMID:30765603 NCBI chr12:19,788,087...19,854,515
Ensembl chr12:19,786,020...19,855,570
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 PMID:26619011 PMID:26822237 NCBI chr13:25,163,550...25,208,314
Ensembl chr13:25,137,173...25,208,311
JBrowse link
G NF1 neurofibromin 1 ISO ClinVar Annotator: match by term: Craniopharyngioma ClinVar PMID:25741868 PMID:28492532 NCBI chr12:43,487,098...43,754,205
Ensembl chr12:43,489,171...43,754,176
JBrowse link
G PDGFRA platelet derived growth factor receptor alpha disease_progression ISO RGD PMID:20190664 RGD:11080971 NCBI chr 8:40,966,568...41,021,440
Ensembl chr 8:40,967,493...41,021,442
JBrowse link
G PHOX2B paired like homeobox 2B ISO ClinVar Annotator: match by term: Craniopharyngioma ClinVar PMID:25741868 NCBI chr 8:32,841,425...32,846,133
Ensembl chr 8:32,841,396...32,846,215
JBrowse link
G PTCH1 patched 1 ISO ClinVar Annotator: match by term: Craniopharyngioma ClinVar PMID:25741868 PMID:28492532 NCBI chr10:26,627,165...26,703,225
Ensembl chr10:26,627,325...26,703,225
JBrowse link
G SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 ISO ClinVar Annotator: match by term: Craniopharyngioma ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:69,717,175...69,810,301
Ensembl chr 2:69,662,238...69,810,298
JBrowse link
G SUFU SUFU negative regulator of hedgehog signaling ISO ClinVar Annotator: match by term: Craniopharyngioma ClinVar PMID:25741868 PMID:28492532 NCBI chr14:113,500,001...113,628,064
Ensembl chr14:113,500,842...113,614,517
JBrowse link
G TSC1 TSC complex subunit 1 ISO ClinVar Annotator: match by term: Craniopharyngioma ClinVar PMID:22161988 PMID:25741868 PMID:28492532 NCBI chr 1:272,636,530...272,685,948
Ensembl chr 1:272,636,532...272,685,952
JBrowse link
G TSC2 TSC complex subunit 2 ISO ClinVar Annotator: match by term: Craniopharyngioma ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:39,898,924...39,935,579
Ensembl chr 3:39,898,922...39,937,371
JBrowse link
Cutaneous Malignant Melanoma, Susceptibility To, 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BRAF B-Raf proto-oncogene, serine/threonine kinase ISO OMIM NCBI chr18:8,957,963...9,132,558
Ensembl chr18:8,957,959...9,132,553
JBrowse link
G STK11 serine/threonine kinase 11 ISO OMIM NCBI chr 2:77,229,888...77,249,322
Ensembl chr 2:77,230,372...77,249,327
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 2:7,358,130...7,364,952
Ensembl chr 2:7,357,951...7,365,128
JBrowse link
Experimental Melanoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACSS1 acyl-CoA synthetase short chain family member 1 treatment ISO RGD PMID:27539851 RGD:13831304 NCBI chr17:30,800,536...30,839,799
Ensembl chr17:30,800,426...30,839,742
JBrowse link
G ACSS2 acyl-CoA synthetase short chain family member 2 treatment ISO RGD PMID:27539851 RGD:13831304 NCBI chr17:38,260,152...38,315,764
Ensembl chr17:38,260,147...38,315,758
JBrowse link
G ANTXR1 ANTXR cell adhesion molecule 1 treatment ISO RGD PMID:19609240 PMID:19622764 RGD:9684925 RGD:9684939 NCBI chr 3:73,157,744...73,398,379
Ensembl chr 3:73,157,752...73,398,345
JBrowse link
G BRAF B-Raf proto-oncogene, serine/threonine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:29179997 PMID:29438700 NCBI chr18:8,957,963...9,132,558
Ensembl chr18:8,957,959...9,132,553
JBrowse link
G CALR calreticulin ISO CTD Direct Evidence: therapeutic CTD PMID:16388313 NCBI chr 2:66,098,263...66,102,074
Ensembl chr 2:66,098,225...66,102,340
JBrowse link
G CCL20 C-C motif chemokine ligand 20 treatment ISO RGD PMID:14500387 RGD:7483600 NCBI chr15:129,172,743...129,176,069 JBrowse link
G CTLA4 cytotoxic T-lymphocyte associated protein 4 treatment ISO RGD PMID:24041689 RGD:7411680 NCBI chr15:107,283,081...107,288,041
Ensembl chr15:107,282,926...107,289,103
JBrowse link
G EGR1 early growth response 1 ISO mRNA, protein:increased expression:salivary gland (mouse) RGD PMID:19517020 RGD:5131885 NCBI chr 2:140,440,829...140,445,302
Ensembl chr 2:140,441,421...140,445,296
JBrowse link
G ESR2 estrogen receptor 2 severity ISO RGD PMID:20354658 RGD:8694122 NCBI chr 1:193,823,666...193,907,330
Ensembl chr 1:193,722,164...193,906,565
JBrowse link
G HGF hepatocyte growth factor ISO RGD PMID:9823327 RGD:8548620 NCBI chr 9:98,437,771...98,513,573
Ensembl chr 9:98,437,087...98,513,156
JBrowse link
G IFNB1 interferon beta 1 ISO CTD Direct Evidence: therapeutic CTD PMID:16417267 NCBI chr 1:201,850,935...201,851,495
Ensembl chr 1:201,850,935...201,851,495
JBrowse link
G IKBKB inhibitor of nuclear factor kappa B kinase subunit beta ISO RGD PMID:19276165 RGD:7495758 NCBI chr17:11,289,607...11,348,557
Ensembl chr17:11,289,690...11,348,553
JBrowse link
G IL18 interleukin 18 treatment ISO RGD PMID:12230493 PMID:17411412 RGD:8655870 RGD:8655901 NCBI chr 9:39,839,959...39,861,258
Ensembl chr 9:39,834,966...39,873,300
JBrowse link
G IL1A interleukin 1 alpha treatment ISO RGD PMID:8061895 RGD:7794735 NCBI chr 3:43,718,320...43,731,668
Ensembl chr 3:43,718,368...43,731,119
JBrowse link
G IL2 interleukin 2 ISO RGD PMID:11884028 RGD:8662950 NCBI chr 8:101,640,938...101,645,683
Ensembl chr 8:101,640,944...101,645,609
JBrowse link
G KDM1A lysine demethylase 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:29438700 NCBI chr 6:80,903,407...80,971,875
Ensembl chr 6:80,903,496...80,971,595
JBrowse link
G KDM4C lysine demethylase 4C ISO CTD Direct Evidence: marker/mechanism CTD PMID:29438700 NCBI chr 1:215,071,335...215,507,778
Ensembl chr 1:215,071,334...215,507,800
JBrowse link
G LOC110258578 interleukin-1 beta-like ISO RGD PMID:1966551 RGD:7401226
G MC1R melanocortin 1 receptor ISO RGD PMID:20126537 RGD:5687319 NCBI chr 6:181,225...182,187
Ensembl chr 6:181,225...182,187
JBrowse link
G PDCD1 programmed cell death 1 treatment ISO RGD PMID:19208793 RGD:9589070 NCBI chr15:140,337,353...140,347,493
Ensembl chr15:140,336,210...140,347,478
JBrowse link
G PTEN phosphatase and tensin homolog ISO CTD Direct Evidence: marker/mechanism CTD PMID:29179997 NCBI chr14:99,929,590...100,021,619 JBrowse link
G PXN paxillin ISO CTD Direct Evidence: marker/mechanism CTD PMID:18492274 NCBI chr14:40,227,894...40,278,785
Ensembl chr14:40,227,894...40,278,766
JBrowse link
G TERT telomerase reverse transcriptase treatment ISO RGD PMID:19903903 RGD:11038656 NCBI chr16:79,258,591...79,276,421
Ensembl chr16:79,258,591...79,276,421
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 NCBI chr 4:93,239,678...93,258,075
Ensembl chr 4:93,239,722...93,258,078
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:11139246 PMID:11159935 PMID:11719521 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 4:93,219,509...93,237,944
Ensembl chr 4:93,219,516...93,237,930
JBrowse link
G RET ret proto-oncogene ISO OMIM NCBI chr14:61,305,818...61,361,416
Ensembl chr14:61,305,841...61,361,415
JBrowse link
familial melanoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CDK4 cyclin dependent kinase 4 ISO OMIM NCBI chr 5:23,039,206...23,041,959
Ensembl chr 5:23,038,889...23,042,061
JBrowse link
G CDKN2B cyclin dependent kinase inhibitor 2B ISO ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:9622062 PMID:15146471 PMID:16905682 PMID:28492532 NCBI chr 1:200,666,250...200,770,880
Ensembl chr 1:200,761,004...200,766,056
JBrowse link
G FANCA FA complementation group A ISO ClinVar Annotator: match by term: Cutaneous malignant melanoma 5 ClinVar PMID:28492532 NCBI chr 6:253,207...300,159
Ensembl chr 6:253,224...300,155
JBrowse link
G KLC1 kinesin light chain 1 ISO ClinVar Annotator: match by term: Cutaneous malignant melanoma 6 ClinVar PMID:11059748
G MC1R melanocortin 1 receptor ISO OMIM NCBI chr 6:181,225...182,187
Ensembl chr 6:181,225...182,187
JBrowse link
G MITF melanocyte inducing transcription factor susceptibility ISO ClinVar Annotator: match by term: MELANOMA AND RENAL CELL CARCINOMA, SUSCEPTIBILITY TO
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:2440678 PMID:22012259 PMID:22080950 PMID:22158021 PMID:23167872 PMID:23774529 PMID:23787126 PMID:23802662 PMID:24033266 PMID:24290354 PMID:24352080 PMID:24406078 PMID:24660985 PMID:24767713 PMID:25407435 PMID:25741868 PMID:25803691 PMID:25975176 PMID:26650189 PMID:26775776 PMID:26800492 PMID:26999813 PMID:27473757 PMID:27680874 PMID:28125078 PMID:28376192 PMID:28492532 PMID:29706638 PMID:30414346 NCBI chr13:51,177,356...51,422,096
Ensembl chr13:51,178,203...51,422,096
JBrowse link
G P14ARF p14ARF protein ISO OMIM NCBI chr 1:200,774,496...200,799,149
Ensembl chr 1:200,774,496...200,798,854
JBrowse link
G POT1 protection of telomeres 1 susceptibility ISO ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10
ClinVar Annotator: match by term: Familial melanoma
ClinVar Annotator: match by term: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 3
ClinVar Annotator: match by term: Hereditary cutaneous melanoma
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:9536098 PMID:16199547 PMID:17576681 PMID:23502782 PMID:24686846 PMID:24686849 PMID:25244922 PMID:25482530 PMID:25741868 PMID:25877891 PMID:26365187 PMID:26403419 PMID:27239034 PMID:27329137 PMID:27528712 PMID:27869160 PMID:28166811 PMID:28393830 PMID:28393832 PMID:28492532 PMID:28853721 PMID:29036293 PMID:29522175 PMID:29523635 PMID:29693246 PMID:30451293 PMID:30523342 PMID:31919090 PMID:33119245 NCBI chr18:22,885,704...22,981,893
Ensembl chr18:22,827,029...22,981,890
JBrowse link
G SPIRE2 spire type actin nucleation factor 2 ISO ClinVar Annotator: match by term: Cutaneous malignant melanoma 5 ClinVar PMID:28492532 NCBI chr 6:211,480...246,109
Ensembl chr 6:211,487...243,636
JBrowse link
G TCF25 transcription factor 25 ISO ClinVar Annotator: match by term: Cutaneous malignant melanoma 5 ClinVar PMID:28492532 NCBI chr 6:186,068...208,841
Ensembl chr 6:183,451...208,903
JBrowse link
G TERT telomerase reverse transcriptase ISO OMIM NCBI chr16:79,258,591...79,276,421
Ensembl chr16:79,258,591...79,276,421
JBrowse link
G TSPAN31 tetraspanin 31 ISO ClinVar Annotator: match by term: Cutaneous Malignant Melanoma, Dominant
ClinVar Annotator: match by term: Familial melanoma
ClinVar Annotator: match by term: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 3
ClinVar Annotator: match by term: Hereditary cutaneous melanoma
ClinVar Annotator: match by term: Cutaneous malignant melanoma 5
ClinVar PMID:20668451 PMID:21520333 PMID:23718828 PMID:24728327 PMID:24755471 PMID:25318351 PMID:25741868 PMID:25980754 PMID:26252490 PMID:26467025 PMID:27997549 PMID:28166811 PMID:28492532 PMID:29917049 PMID:30093976 PMID:31159747 NCBI chr 5:23,029,325...23,038,987
Ensembl chr 5:23,029,306...23,038,983
JBrowse link
G TYR tyrosinase ISO ClinVar Annotator: match by term: MELANOMA AND RENAL CELL CARCINOMA, SUSCEPTIBILITY TO ClinVar PMID:666627 PMID:1429711 PMID:1820207 PMID:7704033 PMID:9158138 PMID:10766867 PMID:17952075 PMID:18326704 PMID:18488027 PMID:18488028 PMID:18925668 PMID:19208379 PMID:19533789 PMID:21541274 PMID:23504663 PMID:25216246 PMID:25741868 NCBI chr 9:22,517,047...22,604,290
Ensembl chr 9:22,517,047...22,604,290
JBrowse link
G XRCC3 X-ray repair cross complementing 3 ISO OMIM
familial meningioma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MN1 MN1 proto-oncogene, transcriptional regulator susceptibility ISO ClinVar Annotator: match by term: Meningioma, familial
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:25741868 NCBI chr14:45,093,660...45,142,476
Ensembl chr14:45,096,485...45,140,570
JBrowse link
G NF2 neurofibromin 2 susceptibility ISO ClinVar Annotator: match by term: Meningioma, familial
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:20553997 PMID:25741868 PMID:28492532 NCBI chr14:46,653,869...46,726,421
Ensembl chr14:46,653,902...46,731,999
JBrowse link
G PDGFB platelet derived growth factor subunit B susceptibility ISO ClinVar Annotator: match by term: Meningioma, familial
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:25741868 Ensembl chr 5:8,986,461...9,007,446 JBrowse link
G PTEN phosphatase and tensin homolog susceptibility ISO ClinVar Annotator: match by term: Meningioma, familial
ClinVar Annotator: match by term: Meningioma, familial, susceptibility to
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:9399897 PMID:9425889 PMID:9467011 PMID:10232405 PMID:10353779 PMID:10400993 PMID:10468583 PMID:10555148 PMID:10749983 PMID:10848731 PMID:11685670 PMID:11939587 PMID:14518070 PMID:14566704 PMID:16014636 PMID:16199547 PMID:16773562 PMID:17392703 PMID:17526801 PMID:17898811 PMID:17942903 PMID:20600018 PMID:21194675 PMID:21828076 PMID:21956414 PMID:22381246 PMID:23442912 PMID:23470840 PMID:23475934 PMID:23695273 PMID:24033266 PMID:24052722 PMID:24375884 PMID:24778394 PMID:25022750 PMID:25132236 PMID:25157968 PMID:25326635 PMID:25525159 PMID:25669429 PMID:25741868 PMID:25756585 PMID:25875300 PMID:26468640 PMID:27477328 PMID:27531073 PMID:27959697 PMID:28492532 PMID:28526761 PMID:28677221 PMID:30287823 PMID:30311380 PMID:32238909 NCBI chr14:99,929,590...100,021,619 JBrowse link
G SMARCE1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 susceptibility ISO ClinVar Annotator: match by term: Meningioma, familial
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:9536098 PMID:16199547 PMID:17576681 PMID:22426308 PMID:23377182 PMID:25169753 PMID:25741868 PMID:28166811 PMID:28492532 NCBI chr12:21,784,410...21,807,170
Ensembl chr12:21,784,426...21,807,170
JBrowse link
G SUFU SUFU negative regulator of hedgehog signaling susceptibility ISO ClinVar Annotator: match by term: Meningioma, familial
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:22958902 PMID:25741868 NCBI chr14:113,500,001...113,628,064
Ensembl chr14:113,500,842...113,614,517
JBrowse link
familial retinoblastoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RB1 RB transcriptional corepressor 1 ISO DNA:mutations:promoter, intron, exon:multiple RGD PMID:17096365 RGD:8547984 NCBI chr11:19,186,754...19,317,642
Ensembl chr11:19,186,759...19,317,690
JBrowse link
ganglioneuroblastoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALK ALK receptor tyrosine kinase ISO ClinVar Annotator: match by term: Ganglioneuroblastoma ClinVar PMID:21838707 PMID:22072639 PMID:23104988 PMID:25741868 PMID:28492532 NCBI chr 3:109,411,146...110,105,755 JBrowse link
G BRCA1 BRCA1 DNA repair associated ISO ClinVar Annotator: match by term: Ganglioneuroblastoma ClinVar PMID:25348012 PMID:25741868 PMID:25971625 PMID:26295337 PMID:26467025 PMID:28492532 PMID:30287823 NCBI chr12:19,788,087...19,854,515
Ensembl chr12:19,786,020...19,855,570
JBrowse link
G TSC2 TSC complex subunit 2 ISO ClinVar Annotator: match by term: Ganglioneuroblastoma ClinVar PMID:21309039 PMID:21520333 PMID:25741868 PMID:28492532 NCBI chr 3:39,898,924...39,935,579
Ensembl chr 3:39,898,922...39,937,371
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 1:137,383,623...137,691,038
Ensembl chr 1:137,387,925...137,690,666
JBrowse link
G MEN1 menin 1 ISO CTD Direct Evidence: marker/mechanism
DNA:mutations: :
CTD
RGD
PMID:15944766 PMID:17961653 RGD:2317354 NCBI chr 2:7,358,130...7,364,952
Ensembl chr 2:7,357,951...7,365,128
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 chr18:29,426,044...29,541,526
Ensembl chr18:29,426,044...29,541,512
JBrowse link
G MGMT O-6-methylguanine-DNA methyltransferase ISO DNA:hypomethylation:promoter (human) RGD PMID:17278096 RGD:2317340 NCBI chr14:138,502,005...138,771,543
Ensembl chr14:138,499,161...138,779,938
JBrowse link
G SLC2A2 solute carrier family 2 member 2 ISO mRNA:decreased expression:pancreatic islet RGD PMID:8421107 PMID:12114701 RGD:2324976 RGD:2324977 NCBI chr13:109,592,595...109,614,105
Ensembl chr13:109,587,256...109,623,787
JBrowse link
Gastro-Enteropancreatic Neuroendocrine Tumor term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CD53 CD53 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:29915428 NCBI chr 4:109,306,552...109,335,876
Ensembl chr 4:109,306,554...109,335,802
JBrowse link
G CD86 CD86 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:29915428 NCBI chr13:138,427,573...138,504,307
Ensembl chr13:138,427,525...138,504,310
JBrowse link
G CIITA class II major histocompatibility complex transactivator ISO CTD Direct Evidence: marker/mechanism CTD PMID:29915428 NCBI chr 3:32,171,706...32,230,775
Ensembl chr 3:32,172,214...32,230,780
JBrowse link
G EOMES eomesodermin ISO CTD Direct Evidence: marker/mechanism CTD PMID:29915428 NCBI chr13:14,209,590...14,216,184
Ensembl chr13:14,210,083...14,215,797
JBrowse link
G GATA3 GATA binding protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29915428 NCBI chr10:63,367,684...63,397,977
Ensembl chr10:63,367,660...63,388,859
JBrowse link
G GFI1 growth factor independent 1 transcriptional repressor ISO CTD Direct Evidence: marker/mechanism CTD PMID:29915428 NCBI chr 4:124,619,887...124,629,638
Ensembl chr 4:124,621,258...124,629,639
JBrowse link
G IKZF1 IKAROS family zinc finger 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29915428 NCBI chr 9:136,372,202...136,464,942
Ensembl chr 9:136,372,724...136,464,942
JBrowse link
G IKZF3 IKAROS family zinc finger 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29915428 NCBI chr12:22,466,386...22,562,320
Ensembl chr12:22,466,414...22,562,312
JBrowse link
G IL10 interleukin 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29915428 NCBI chr 9:67,400,727...67,405,941
Ensembl chr 9:67,400,727...67,405,711
JBrowse link
G IL2RB interleukin 2 receptor subunit beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:29915428 NCBI chr 5:10,610,094...10,650,315 JBrowse link
G NOTCH2 notch receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29915428 NCBI chr 4:100,951,522...101,152,348
Ensembl chr 4:100,951,507...101,150,198
JBrowse link
G POU2F2 POU class 2 homeobox 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29915428 NCBI chr 6:49,791,937...49,829,771
Ensembl chr 6:49,710,999...49,827,560
JBrowse link
G PTPRC protein tyrosine phosphatase receptor type C ISO CTD Direct Evidence: marker/mechanism CTD PMID:29915428 NCBI chr10:21,482,984...21,601,627
Ensembl chr10:21,466,373...21,764,560
JBrowse link
G RUNX3 RUNX family transcription factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29915428 NCBI chr 6:82,531,203...82,595,044
Ensembl chr 6:82,531,215...82,595,026
JBrowse link
G SERPINA1 serpin family A member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29915428 NCBI chr 7:115,604,282...115,616,915
Ensembl chr 7:115,604,285...115,614,633
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 chr 8:70,645,721...70,697,538 JBrowse link
G MEN1 menin 1 ISO CTD Direct Evidence: marker/mechanism
DNA:deletion:exon
CTD
RGD
PMID:17961653 PMID:20138042 RGD:2317288 NCBI chr 2:7,358,130...7,364,952
Ensembl chr 2:7,357,951...7,365,128
JBrowse link
G SLC2A2 solute carrier family 2 member 2 ISO mRNA:decreased expression:pancreatic islet RGD PMID:8421107 PMID:12114701 RGD:2324976 RGD:2324977 NCBI chr13:109,592,595...109,614,105
Ensembl chr13:109,587,256...109,623,787
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 NCBI chr 8:32,841,425...32,846,133
Ensembl chr 8:32,841,396...32,846,215
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 5:39,329,628...39,363,699
Ensembl chr 5:39,328,051...39,363,711
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 PMID:15623805 PMID:18678321 PMID:21565294 PMID:21979946 PMID:22703879 PMID:23175444 PMID:24728327 PMID:25149476 PMID:25694510 PMID:25695889 PMID:25741868 PMID:26467025 PMID:27279923 PMID:28128698 PMID:28164237 PMID:28492532 NCBI chr 9:39,790,654...39,803,602
Ensembl chr 9:39,790,561...39,803,946
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:61,584,028...61,872,341
Ensembl chr  X:61,584,848...61,872,288
JBrowse link
G CDK4 cyclin dependent kinase 4 ISO protein:increased expression:pancreas, islet of Langerhans (human) RGD PMID:22761470 RGD:13452384 NCBI chr 5:23,039,206...23,041,959
Ensembl chr 5:23,038,889...23,042,061
JBrowse link
G DAXX death domain associated protein disease_progression ISO RGD PMID:21252315 RGD:9587819 NCBI chr 7:29,676,854...29,681,145
Ensembl chr 7:29,676,854...29,681,110
JBrowse link
G PCSK1 proprotein convertase subtilisin/kexin type 1 ISO protein:increased expression:insulinoma (rat) RGD PMID:7925129 RGD:2308920 NCBI chr 2:103,004,794...103,050,707
Ensembl chr 2:103,004,794...103,050,839
JBrowse link
Islet Cell Tumor Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KIF1B kinesin family member 1B ISO ClinVar Annotator: match by term: Chromaffinoma ClinVar PMID:18334619 PMID:18726616 NCBI chr 6:70,495,143...70,663,464
Ensembl chr 6:70,495,144...70,663,463
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 PMID:25741868 NCBI chr 4:89,174,107...89,179,556
Ensembl chr 4:89,169,311...89,179,925
JBrowse link
G RET ret proto-oncogene ISO ClinVar Annotator: match by term: Chromaffinoma ClinVar PMID:2660074 PMID:3078962 PMID:7536460 PMID:7824936 PMID:7845675 PMID:7906417 PMID:7906866 PMID:7911697 PMID:7977365 PMID:8570194 PMID:8595427 PMID:8782503 PMID:8797874 PMID:8880581 PMID:8918855 PMID:9242375 PMID:9620546 PMID:9681850 PMID:9839497 PMID:10369718 PMID:10445857 PMID:10679286 PMID:11230481 PMID:11351254 PMID:15277225 PMID:15281979 PMID:15320968 PMID:16715139 PMID:17108110 PMID:17540634 PMID:17848262 PMID:18058472 PMID:18073307 PMID:18209889 PMID:18252215 PMID:18322301 PMID:18541894 PMID:19041016 PMID:19169500 PMID:19240193 PMID:19255327 PMID:19826964 PMID:19906784 PMID:20065189 PMID:20368568 PMID:20516206 PMID:20847059 PMID:21253810 PMID:21422803 PMID:21455200 PMID:21470995 PMID:21479187 PMID:21551259 PMID:21765987 PMID:21810974 PMID:21986619 PMID:22025146 PMID:22199277 PMID:22233172 PMID:22359510 PMID:22676344 PMID:22992277 PMID:23056499 PMID:23067224 PMID:23660872 PMID:24033266 PMID:24336963 PMID:24728327 PMID:25157968 PMID:25637381 PMID:25741868 PMID:25810047 PMID:26084817 PMID:26332594 PMID:26467025 PMID:26489027 PMID:27379493 PMID:27539324 PMID:27807060 PMID:28492532 PMID:28946813 NCBI chr14:61,305,818...61,361,416
Ensembl chr14:61,305,841...61,361,415
JBrowse link
G SDHB succinate dehydrogenase complex iron sulfur subunit B ISO ClinVar Annotator: match by term: Chromaffinoma ClinVar PMID:12364472 PMID:12618761 PMID:14500403 PMID:15328326 PMID:16199547 PMID:16314641 PMID:16317055 PMID:17102082 PMID:17200167 PMID:18362451 PMID:18840642 PMID:19454582 PMID:19802898 PMID:22835832 PMID:23083876 PMID:23175444 PMID:23282968 PMID:23512077 PMID:24033266 PMID:24102379 PMID:24659481 PMID:25298897 PMID:25741868 PMID:25972245 PMID:26642834 PMID:26719882 PMID:28374168 PMID:28492532 PMID:28503760 PMID:28973655 PMID:29386252 PMID:29951630 PMID:30352407 NCBI chr 6:75,648,362...75,678,111
Ensembl chr 6:75,648,215...75,678,378
JBrowse link
G SDHC succinate dehydrogenase complex subunit C ISO ClinVar Annotator: match by term: Chromaffinoma ClinVar PMID:12807974 PMID:17468193 PMID:19454582 PMID:23342407 PMID:24033266 PMID:25741868 NCBI chr 4:89,135,410...89,169,164
Ensembl chr 4:89,130,355...89,169,121
JBrowse link
G SDHD succinate dehydrogenase complex subunit D ISO ClinVar Annotator: match by term: Chromaffinoma ClinVar PMID:10657297 PMID:11156372 PMID:11526495 PMID:12007193 PMID:12111639 PMID:12386824 PMID:12696072 PMID:14557476 PMID:15032977 PMID:15623805 PMID:18678321 PMID:21565294 PMID:21979946 PMID:22584711 PMID:22703879 PMID:23175444 PMID:23666964 PMID:24033266 PMID:24728327 PMID:24886695 PMID:25149476 PMID:25694510 PMID:25695889 PMID:25741868 PMID:26467025 PMID:27153395 PMID:27279923 PMID:28128698 PMID:28164237 PMID:28492532 PMID:29386252 NCBI chr 9:39,790,654...39,803,602
Ensembl chr 9:39,790,561...39,803,946
JBrowse link
Lung Carcinoid Tumors term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MEN1 menin 1 ISO ClinVar Annotator: match by term: Lung carcinoid tumor ClinVar PMID:9215689 PMID:9361035 PMID:11579199 PMID:12112656 PMID:12213668 PMID:15240620 PMID:15635078 PMID:15670192 PMID:17065424 PMID:17853334 PMID:17879353 PMID:19041010 PMID:21340156 PMID:22470073 PMID:23321498 PMID:24915123 PMID:25291050 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29036195 PMID:30324798 NCBI chr 2:7,358,130...7,364,952
Ensembl chr 2:7,357,951...7,365,128
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 PMID:19418217 PMID:19487299 PMID:19853286 PMID:20233444 PMID:20453058 PMID:21464312 PMID:21512767 PMID:21793738 PMID:22538770 PMID:22610119 PMID:22722201 PMID:22722839 PMID:22980975 PMID:23237847 PMID:23348505 PMID:23700467 PMID:23728071 PMID:23934607 PMID:24190505 PMID:24657128 PMID:25157968 PMID:26619011 PMID:28492532
G B2M beta-2-microglobulin ISO ClinVar Annotator: match by term: Lung oat cell carcinoma ClinVar PMID:26619011 NCBI chr 1:126,837,721...126,844,043
Ensembl chr 1:126,835,143...126,981,582
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 PMID:15805248 PMID:15930273 PMID:16906227 PMID:16930767 PMID:17673550 PMID:18676830 PMID:18725974 PMID:19029981 PMID:19223544 PMID:19366826 PMID:19513541 PMID:19903786 PMID:20453058 PMID:20619739 PMID:21078999 PMID:21430269 PMID:21558396 PMID:22162582 PMID:22162589 PMID:22209294 PMID:22271473 PMID:22357840 PMID:22658544 PMID:22729223 PMID:22729224 PMID:23066039 PMID:23408298 PMID:23888070 PMID:24033266 PMID:24265155 PMID:24559322 PMID:25157968 PMID:25599672 PMID:25741868 PMID:26619011 PMID:26851524 PMID:27631024 PMID:28151489 PMID:28425981 PMID:29446767 PMID:30543347 PMID:31775759 NCBI chr13:117,193,935...117,282,151
Ensembl chr13:117,180,544...117,277,232
JBrowse link
G PTEN phosphatase and tensin homolog ISO ClinVar Annotator: match by term: Lung oat cell carcinoma ClinVar PMID:9467011 PMID:9915974 PMID:10866302 PMID:11504908 PMID:11875759 PMID:16773562 PMID:17526801 PMID:17942903 PMID:18767981 PMID:19457929 PMID:20085938 PMID:20300775 PMID:21659347 PMID:21822720 PMID:21824802 PMID:21828076 PMID:22266152 PMID:22320991 PMID:22327138 PMID:22595938 PMID:23335809 PMID:23399955 PMID:23470840 PMID:24778394 PMID:25157968 PMID:25527629 PMID:25741868 PMID:26619011 PMID:26798346 PMID:27477328 PMID:27535533 PMID:28475857 PMID:28492532 PMID:29359449 PMID:29706350 NCBI chr14:99,929,590...100,021,619 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 PMID:10966849 PMID:12541220 PMID:15643604 PMID:16269091 PMID:16449662 PMID:17096365 PMID:18677112 PMID:18682685 PMID:20041224 PMID:23532519 PMID:24225018 PMID:24688104 PMID:25741868 PMID:26925970 PMID:28492532 PMID:28575107 PMID:28724667 NCBI chr11:19,186,754...19,317,642
Ensembl chr11:19,186,759...19,317,690
JBrowse link
G TP53 tumor protein p53 ISO ClinVar Annotator: match by term: Lung oat cell carcinoma ClinVar PMID:1359493 PMID:1565143 PMID:1565144 PMID:1569604 PMID:1631137 PMID:1631151 PMID:1683921 PMID:1915267 PMID:1978757 PMID:2046748 PMID:2113594 PMID:2826609 PMID:7732013 PMID:7887414 PMID:8023157 PMID:8062826 PMID:8080050 PMID:8099841 PMID:8118819 PMID:8164043 PMID:8242631 PMID:8423216 PMID:8425176 PMID:8479749 PMID:8527048 PMID:8633021 PMID:9049183 PMID:9242456 PMID:9290701 PMID:9407971 PMID:9472631 PMID:9525742 PMID:9546439 PMID:9569050 PMID:9572492 PMID:9598730 PMID:9627118 PMID:9662334 PMID:9667734 PMID:9825943 PMID:10229196 PMID:10411893 PMID:10432928 PMID:10519380 PMID:10567903 PMID:10589545 PMID:10616528 PMID:10797439 PMID:10864200 PMID:10871862 PMID:10914716 PMID:10922393 PMID:11051239 PMID:11139324 PMID:11180592 PMID:11313981 PMID:11429705 PMID:11479205 PMID:11593407 PMID:11782540 PMID:11793474 PMID:11896595 PMID:11920959 PMID:12124823 PMID:12509279 PMID:12672316 PMID:12695689 PMID:12726864 PMID:12792784 PMID:12826609 PMID:12917626 PMID:14559903 PMID:15004724 PMID:15017592 PMID:15037740 PMID:15077194 PMID:15381368 PMID:15390294 PMID:15541116 PMID:15580553 PMID:15607980 PMID:15722483 PMID:15825182 PMID:15951970 PMID:15977174 PMID:16209708 PMID:16288208 PMID:16401470 PMID:16474844 PMID:16489069 PMID:16494995 PMID:16508005 PMID:16633321 PMID:16682957 PMID:16741917 PMID:16778209 PMID:16818505 PMID:16827139 PMID:16861262 PMID:17015838 PMID:17311302 PMID:17390010 PMID:17401428 PMID:17417627 PMID:17427234 PMID:17530187 PMID:17540308 PMID:17567834 PMID:17606709 PMID:17636407 PMID:17724467 PMID:17875924 PMID:18307025 PMID:18511570 PMID:18555592 PMID:18628487 PMID:18685109 PMID:19101993 PMID:19336573 PMID:19367569 PMID:19378321 PMID:19462533 PMID:19556618 PMID:19834951 PMID:19850740 PMID:20013323 PMID:20028212 PMID:20113312 PMID:20127978 PMID:20128691 PMID:20234365 PMID:20308654 PMID:20407015 PMID:20505364 PMID:20506564 PMID:20516128 PMID:20522432 PMID:20593220 PMID:20693561 PMID:20805372 PMID:21056685 PMID:21187651 PMID:21232794 PMID:21305319 PMID:21343334 PMID:21356188 PMID:21483000 PMID:21484931 PMID:21514416 PMID:21519010 PMID:21535297 PMID:21552135 PMID:21601526 PMID:21761402 PMID:22110706 PMID:22114072 PMID:22186996 PMID:22198284 PMID:22265402 PMID:22319594 PMID:22427690 PMID:22540896 PMID:22710932 PMID:22713868 PMID:22768918 PMID:22811390 PMID:22862161 PMID:22899716 PMID:22915647 PMID:22919068 PMID:22923379 PMID:22999923 PMID:23161690 PMID:23172776 PMID:23246812 PMID:23265383 PMID:23315175 PMID:23334668 PMID:23538418 PMID:23630318 PMID:23667202 PMID:23713777 PMID:23894400 PMID:23950206 PMID:23967324 PMID:24033266 PMID:24038938 PMID:24307375 PMID:24381225 PMID:24395441 PMID:24487413 PMID:24501221 PMID:24573247 PMID:24603336 PMID:24641375 PMID:24651012 PMID:24651015 PMID:24677579 PMID:24702488 PMID:24744791 PMID:24810334 PMID:25123297 PMID:25157968 PMID:25326637 PMID:25339994 PMID:25433984 PMID:25503501 PMID:25525159 PMID:25584008 PMID:25587027 PMID:25741868 PMID:25757876 PMID:25787918 PMID:25896519 PMID:25925845 PMID:25927356 PMID:25945745 PMID:25952993 PMID:26014290 PMID:26022348 PMID:26230955 PMID:26271412 PMID:26425688 PMID:26467025 PMID:26497680 PMID:26556299 PMID:26585234 PMID:26619011 PMID:26628864 PMID:26681312 PMID:26787237 PMID:26818906 PMID:26822237 PMID:26845104 PMID:27022024 PMID:27149858 PMID:27276561 PMID:27374712 PMID:27458004 PMID:27463065 PMID:27523101 PMID:27533082 PMID:27680515 PMID:27683180 PMID:27724982 PMID:27730344 PMID:27873457 PMID:27895058 PMID:27911860 PMID:27959731 PMID:28135145 PMID:28152038 PMID:28369373 PMID:28453743 PMID:28472496 PMID:28476805 PMID:28477316 PMID:28492532 PMID:28724667 PMID:28861920 PMID:29025599 PMID:29070607 PMID:29470806 PMID:29478780 PMID:29489754 PMID:29752822 PMID:29753700 PMID:29979965 PMID:30076369 PMID:30128536 PMID:30216591 PMID:30224644 PMID:30306255 PMID:30311369 PMID:30327374 PMID:30352134 PMID:30709381 PMID:30720243 PMID:30816478 PMID:30840781 PMID:31016814 PMID:31206626 PMID:31300551 PMID:31775759 PMID:32000721 NCBI chr12:52,939,643...52,953,786
Ensembl chr12:52,939,643...52,953,819
JBrowse link
lung small cell carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADCY1 adenylate cyclase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22941189 NCBI chr18:50,043,572...50,143,549
Ensembl chr18:50,046,575...50,143,771
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 PMID:19418217 PMID:19487299 PMID:19853286 PMID:20233444 PMID:20453058 PMID:21464312 PMID:21512767 PMID:21793738 PMID:22538770 PMID:22610119 PMID:22722201 PMID:22722839 PMID:22980975 PMID:23237847 PMID:23348505 PMID:23700467 PMID:23728071 PMID:23934607 PMID:24190505 PMID:24657128 PMID:25157968 PMID:26619011 PMID:28492532
G ASCL1 achaete-scute family bHLH transcription factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26253517 NCBI chr 5:81,357,431...81,360,335 JBrowse link
G AVP arginine vasopressin ISO CTD Direct Evidence: marker/mechanism CTD PMID:2832203 NCBI chr17:32,581,234...32,583,145
Ensembl chr17:32,581,230...32,583,427
JBrowse link
G B2M beta-2-microglobulin ISO ClinVar Annotator: match by term: Small cell lung cancer ClinVar PMID:26619011 NCBI chr 1:126,837,721...126,844,043
Ensembl chr 1:126,835,143...126,981,582
JBrowse link
G BCL2 BCL2 apoptosis regulator susceptibility ISO DNA:SNP: :rs2279115(human) RGD PMID:26311051 RGD:13673911 NCBI chr 1:158,337,403...158,518,214
Ensembl chr 1:158,288,544...158,518,879
JBrowse link
G BCLAF1 BCL2 associated transcription factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22941189 NCBI chr 1:27,872,167...27,902,980
Ensembl chr 1:27,872,184...27,919,899
JBrowse link
G CCND1 cyclin D1 disease_progression ISO DNA:snp:exon:c.870G>A (human) RGD PMID:29739297 RGD:13673912 NCBI chr 2:3,621,242...3,633,380
Ensembl chr 2:3,621,246...3,633,296
JBrowse link
G CDKN1B cyclin dependent kinase inhibitor 1B ISO protein:increased expression:lung RGD PMID:9500468 RGD:13673920 NCBI chr 5:59,731,224...59,735,831
Ensembl chr 5:59,731,206...59,735,831
JBrowse link
G CDYL chromodomain Y like ISO CTD Direct Evidence: marker/mechanism CTD PMID:22941189 NCBI chr 7:2,845,903...2,967,537
Ensembl chr 7:2,785,405...2,966,241
JBrowse link
G CKB creatine kinase B ISO CTD Direct Evidence: marker/mechanism CTD PMID:2828370
G CNTNAP2 contactin associated protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22941189 NCBI chr 9:109,740,510...111,781,144 JBrowse link
G COL22A1 collagen type XXII alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:22941189 NCBI chr 4:4,069,045...4,313,198
Ensembl chr 4:4,069,076...4,313,196
JBrowse link
G COL4A2 collagen type IV alpha 2 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:22941189 NCBI chr11:76,996,885...77,161,617
Ensembl chr11:76,997,516...77,161,615
JBrowse link
G CREBBP CREB binding protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:22941188 NCBI chr 3:38,388,366...38,530,243
Ensembl chr 3:38,388,547...38,530,230
JBrowse link
G CSF3 colony stimulating factor 3 ISO CTD Direct Evidence: therapeutic CTD PMID:9093707 NCBI chr12:22,333,445...22,335,949
Ensembl chr12:22,333,445...22,342,163
JBrowse link
G DIP2C disco interacting protein 2 homolog C ISO CTD Direct Evidence: marker/mechanism CTD PMID:22941189 NCBI chr10:68,770,149...69,141,876
Ensembl chr10:68,770,163...69,141,871
JBrowse link
G DNMT3B DNA methyltransferase 3 beta susceptibility ISO DNA:SNPs:promoter:-283T >C,-579G>T(human) RGD PMID:15528220 RGD:9589086 NCBI chr17:36,345,715...36,386,076
Ensembl chr17:36,332,801...36,386,074
JBrowse link
G E2F1 E2F transcription factor 1 disease_progression
treatment
ISO mRNA, protein:increased expression:lung RGD PMID:11313916 PMID:23792570 PMID:24755270 RGD:13464335 RGD:13464337 RGD:13464344 NCBI chr17:37,178,587...37,190,118
Ensembl chr17:37,178,598...37,189,841
JBrowse link
G EGFR epidermal growth factor receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:20837450 NCBI chr 9:139,302,410...139,474,632
Ensembl chr 9:139,300,022...139,478,882
JBrowse link
G ELAVL2 ELAV like RNA binding protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22941189 NCBI chr 1:198,964,070...199,135,815
Ensembl chr 1:198,964,132...199,136,545
JBrowse link
G EP300 E1A binding protein p300 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22941188 NCBI chr 5:7,311,165...7,394,515
Ensembl chr 5:7,311,171...7,393,760
JBrowse link
G EPHA7 EPH receptor A7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22941188 NCBI chr 1:60,771,567...60,944,092
Ensembl chr 1:60,771,571...60,944,038
JBrowse link
G FGFR1 fibroblast growth factor receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22941188 NCBI chr15:48,053,895...48,106,634
Ensembl chr15:48,053,340...48,106,746
JBrowse link
G GRIK3 glutamate ionotropic receptor kainate type subunit 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22941189 NCBI chr 6:92,880,297...93,128,048
Ensembl chr 6:92,880,301...93,128,582
JBrowse link
G GRM8 glutamate metabotropic receptor 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22941189 NCBI chr18:20,945,049...21,756,952
Ensembl chr18:20,950,532...21,758,170
JBrowse link
G ID2 inhibitor of DNA binding 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23582323 NCBI chr 3:127,500,759...127,503,207
Ensembl chr 3:127,500,759...127,503,257
JBrowse link
G INSM1 INSM transcriptional repressor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23582323 NCBI chr17:28,379,529...28,382,554 JBrowse link
G ITGB1 integrin subunit beta 1 disease_progression
treatment
ISO RGD PMID:12168902 PMID:21063403 RGD:13792831 RGD:13792832 NCBI chr10:56,078,393...56,130,608
Ensembl chr10:56,078,398...56,173,795
JBrowse link
G KHSRP KH-type splicing regulatory protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:22941189 NCBI chr 2:72,656,951...72,668,854
Ensembl chr 2:72,656,951...72,668,964
JBrowse link
G KIF21A kinesin family member 21A ISO CTD Direct Evidence: marker/mechanism CTD PMID:22941189 NCBI chr 5:70,888,999...71,029,832
Ensembl chr 5:70,888,999...71,029,809
JBrowse link
G KIT KIT proto-oncogene, receptor tyrosine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:15499612 NCBI chr 8:41,402,334...41,492,306
Ensembl chr 8:41,402,043...41,493,735
JBrowse link
G KMT2A lysine methyltransferase 2A ISO CTD Direct Evidence: marker/mechanism CTD PMID:22941188 NCBI chr 9:45,743,566...45,828,559 JBrowse link
G LAMA3 laminin subunit alpha 3 ISO DNA:hyper-methylation:promoter: RGD PMID:12855645 RGD:13793369 NCBI chr 6:108,548,818...108,805,700
Ensembl chr 6:108,548,837...108,805,693
JBrowse link
G LAMB3 laminin subunit beta 3 ISO DNA:hyper-methylation:promoter: RGD PMID:12855645 RGD:13793369 NCBI chr 9:133,298,009...133,351,162
Ensembl chr 9:133,311,834...133,351,197
JBrowse link
G LAMC2 laminin subunit gamma 2 ISO DNA:hyper-methylation:promoter: RGD PMID:12855645 RGD:13793369 NCBI chr 9:124,427,545...124,499,672
Ensembl chr 9:124,435,807...124,495,354
JBrowse link
G LYRM9 LYR motif containing 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22941189 NCBI chr12:44,271,407...44,289,687 JBrowse link
G MAX MYC associated factor X ISO DNA:loss of heterozygosity:lung RGD PMID:24362264 RGD:13793386 NCBI chr 7:89,142,966...89,168,265
Ensembl chr 7:89,120,822...89,168,270
JBrowse link
G MTHFR methylenetetrahydrofolate reductase severity ISO protein:missense mutation:cds:p.A222V (human) RGD PMID:17533396 RGD:4891158 NCBI chr 6:71,863,637...71,882,118
Ensembl chr 6:71,863,636...71,881,820
JBrowse link
G MTOR mechanistic target of rapamycin kinase disease_progression ISO DNA:SNP: :rs2536(human) RGD PMID:28280736 RGD:13825123 NCBI chr 6:71,286,989...71,412,913
Ensembl chr 6:71,286,989...71,412,888
JBrowse link
G MYC MYC proto-oncogene, bHLH transcription factor disease_progression ISO RGD PMID:28089889 RGD:13793389 NCBI chr 4:12,455,141...12,460,360
Ensembl chr 4:12,455,119...12,461,078
JBrowse link
G MYCL MYCL proto-oncogene, bHLH transcription factor ISO CTD Direct Evidence: therapeutic CTD PMID:22941189 NCBI chr 6:95,696,086...95,702,627
Ensembl chr 6:95,696,094...95,702,648
JBrowse link
G NDRG1 N-myc downstream regulated 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15341671 NCBI chr 4:8,014,445...8,069,335
Ensembl chr 4:8,014,446...8,069,333
JBrowse link
G PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha ISO ClinVar Annotator: match by term: Small cell lung cancer
ClinVar Annotator: match by term: Small cell lung carcinoma
ClinVar PMID:15016963 PMID:15254419 PMID:15520168 PMID:15608678 PMID:15647370 PMID:15805248 PMID:15930273 PMID:16906227 PMID:16930767 PMID:17673550 PMID:18676830 PMID:18725974 PMID:19029981 PMID:19223544 PMID:19366826 PMID:19513541 PMID:19903786 PMID:20453058 PMID:20619739 PMID:21078999 PMID:21430269 PMID:21558396 PMID:22162582 PMID:22162589 PMID:22209294 PMID:22271473 PMID:22357840 PMID:22658544 PMID:22729223 PMID:22729224 PMID:23066039 PMID:23408298 PMID:23888070 PMID:24033266 PMID:24265155 PMID:24559322 PMID:25157968 PMID:25599672 PMID:25741868 PMID:26619011 PMID:26851524 PMID:27631024 PMID:28151489 PMID:28425981 PMID:29446767 PMID:30543347 PMID:31775759 NCBI chr13:117,193,935...117,282,151
Ensembl chr13:117,180,544...117,277,232
JBrowse link
G PIK3R1 phosphoinositide-3-kinase regulatory subunit 1 disease_progression ISO DNA:SNPs: :rs3756668,rs12755(human) RGD PMID:28280736 RGD:13825123 NCBI chr16:46,434,757...46,523,626
Ensembl chr16:46,434,873...46,523,609
JBrowse link
G PLSCR4 phospholipid scramblase 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22941189 NCBI chr13:86,542,279...86,573,665
Ensembl chr13:86,542,283...86,573,629
JBrowse link
G PTEN phosphatase and tensin homolog ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Small cell lung cancer
CTD
ClinVar
PMID:9467011 PMID:9915974 PMID:10866302 PMID:11504908 PMID:11875759 PMID:16773562 PMID:17526801 PMID:17942903 PMID:18767981 PMID:19457929 PMID:20085938 PMID:20300775 PMID:21659347 PMID:21822720 PMID:21824802 PMID:21828076 PMID:22266152 PMID:22320991 PMID:22327138 PMID:22595938 PMID:22941188 PMID:23335809 PMID:23399955 PMID:23470840 PMID:24778394 PMID:25157968 PMID:25527629 PMID:25741868 PMID:26619011 PMID:26798346 PMID:27477328 PMID:27535533 PMID:28475857 PMID:28492532 PMID:29359449 PMID:29706350 NCBI chr14:99,929,590...100,021,619 JBrowse link
G PTK2 protein tyrosine kinase 2 disease_progression ISO DNA:CNV:: RGD PMID:20802517 PMID:21800286 RGD:13825133 RGD:13825141 NCBI chr 4:2,656,606...2,896,060
Ensembl chr 4:2,656,613...2,896,060
JBrowse link
G RARB retinoic acid receptor beta ISO DNA:methylation: : RGD PMID:29851970 RGD:13825142 NCBI chr13:12,336,387...12,507,688 JBrowse link
G RASSF8 Ras association domain family member 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22941189 NCBI chr 5:47,729,747...47,847,470
Ensembl chr 5:47,729,751...47,847,454
JBrowse link
G RB1 RB transcriptional corepressor 1 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:1352883 PMID:2594029 PMID:7881418 PMID:9632788 PMID:9671401 PMID:10486322 PMID:10966849 PMID:12541220 PMID:15643604 PMID:16269091 PMID:16449662 PMID:17096365 PMID:18677112 PMID:18682685 PMID:20041224 PMID:22941188 PMID:22941189 PMID:23532519 PMID:24225018 PMID:24688104 PMID:25157968 PMID:25741868 PMID:26925970 PMID:28492532 PMID:28575107 PMID:28724667 NCBI chr11:19,186,754...19,317,642
Ensembl chr11:19,186,759...19,317,690
JBrowse link
G RIMS2 regulating synaptic membrane exocytosis 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22941189 NCBI chr 4:32,999,615...33,613,413
Ensembl chr 4:32,999,613...33,613,469
JBrowse link
G RUNX1T1 RUNX1 partner transcriptional co-repressor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22941189 NCBI chr 4:44,600,292...44,745,954
Ensembl chr 4:44,599,760...44,743,448
JBrowse link
G SATB2 SATB homeobox 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22941189 NCBI chr15:102,962,635...103,172,224
Ensembl chr15:102,964,404...103,154,630
JBrowse link
G SKP2 S-phase kinase associated protein 2 ISO mRNA:increased expression:lung: RGD PMID:12107105 RGD:13825152 NCBI chr16:21,463,270...21,500,925
Ensembl chr16:21,463,012...21,502,550
JBrowse link
G SLIT2 slit guidance ligand 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22941188 NCBI chr 8:14,758,426...15,149,515
Ensembl chr 8:14,756,619...15,149,510
JBrowse link
G SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26343384 NCBI chr 2:69,717,175...69,810,301
Ensembl chr 2:69,662,238...69,810,298
JBrowse link
G SOX2 SRY-box transcription factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22941189 NCBI chr13:119,668,476...119,669,435 JBrowse link
G TMEM132D transmembrane protein 132D ISO CTD Direct Evidence: marker/mechanism CTD PMID:22941189 NCBI chr14:25,144,440...25,919,018
Ensembl chr14:25,144,629...25,913,077
JBrowse link
G TP53 tumor protein p53 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Small cell lung carcinoma
ClinVar Annotator: match by term: Small cell lung cancer
CTD
ClinVar
PMID:1359493 PMID:1565143 PMID:1565144 PMID:1569604 PMID:1631137 PMID:1631151 PMID:1683921 PMID:1915267 PMID:1978757 PMID:2046748 PMID:2113594 PMID:2826609 PMID:7732013 PMID:7887414 PMID:8023157 PMID:8062826 PMID:8080050 PMID:8099841 PMID:8118819 PMID:8164043 PMID:8242631 PMID:8423216 PMID:8425176 PMID:8479749 PMID:8527048 PMID:8633021 PMID:9049183 PMID:9242456 PMID:9290701 PMID:9407971 PMID:9472631 PMID:9525742 PMID:9546439 PMID:9569050 PMID:9572492 PMID:9598730 PMID:9627118 PMID:9662334 PMID:9667734 PMID:9825943 PMID:10229196 PMID:10411893 PMID:10432928 PMID:10519380 PMID:10567903 PMID:10589545 PMID:10616528 PMID:10797439 PMID:10864200 PMID:10871862 PMID:10914716 PMID:10922393 PMID:11051239 PMID:11139324 PMID:11180592 PMID:11313981 PMID:11429705 PMID:11479205 PMID:11593407 PMID:11782540 PMID:11793474 PMID:11896595 PMID:11920959 PMID:12124823 PMID:12509279 PMID:12672316 PMID:12695689 PMID:12726864 PMID:12792784 PMID:12826609 PMID:12917626 PMID:14559903 PMID:15004724 PMID:15017592 PMID:15037740 PMID:15077194 PMID:15381368 PMID:15390294 PMID:15541116 PMID:15580553 PMID:15607980 PMID:15722483 PMID:15781620 PMID:15825182 PMID:15951970 PMID:15977174 PMID:16209708 PMID:16288208 PMID:16401470 PMID:16474844 PMID:16489069 PMID:16494995 PMID:16508005 PMID:16633321 PMID:16682957 PMID:16741917 PMID:16778209 PMID:16818505 PMID:16827139 PMID:16861262 PMID:17015838 PMID:17311302 PMID:17390010 PMID:17401428 PMID:17417627 PMID:17427234 PMID:17530187 PMID:17540308 PMID:17567834 PMID:17606709 PMID:17636407 PMID:17724467 PMID:17875924 PMID:18307025 PMID:18511570 PMID:18555592 PMID:18628487 PMID:18685109 PMID:19101993 PMID:19336573 PMID:19367569 PMID:19378321 PMID:19462533 PMID:19556618 PMID:19834951 PMID:19850740 PMID:20013323 PMID:20028212 PMID:20113312 PMID:20127978 PMID:20128691 PMID:20234365 PMID:20308654 PMID:20407015 PMID:20505364 PMID:20506564 PMID:20516128 PMID:20522432 PMID:20593220 PMID:20693561 PMID:20805372 PMID:21056685 PMID:21187651 PMID:21232794 PMID:21305319 PMID:21343334 PMID:21356188 PMID:21483000 PMID:21484931 PMID:21514416 PMID:21519010 PMID:21535297 PMID:21552135 PMID:21601526 PMID:21761402 PMID:22110706 PMID:22114072 PMID:22186996 PMID:22198284 PMID:22265402 PMID:22319594 PMID:22427690 PMID:22540896 PMID:22710932 PMID:22713868 PMID:22768918 PMID:22811390 PMID:22862161 PMID:22899716 PMID:22915647 PMID:22919068 PMID:22923379 PMID:22941188 PMID:22941189 PMID:22999923 PMID:23161690 PMID:23172776 PMID:23246812 PMID:23265383 PMID:23315175 PMID:23334668 PMID:23538418 PMID:23630318 PMID:23667202 PMID:23713777 PMID:23894400 PMID:23950206 PMID:23967324 PMID:24033266 PMID:24038938 PMID:24307375 PMID:24381225 PMID:24395441 PMID:24487413 PMID:24501221 PMID:24573247 PMID:24603336 PMID:24641375 PMID:24651012 PMID:24651015 PMID:24677579 PMID:24702488 PMID:24744791 PMID:24810334 PMID:25123297 PMID:25157968 PMID:25326637 PMID:25339994 PMID:25433984 PMID:25503501 PMID:25525159 PMID:25584008 PMID:25587027 PMID:25741868 PMID:25757876 PMID:25787918 PMID:25896519 PMID:25925845 PMID:25927356 PMID:25945745 PMID:25952993 PMID:26014290 PMID:26022348 PMID:26230955 PMID:26271412 PMID:26425688 PMID:26467025 PMID:26497680 PMID:26556299 PMID:26585234 PMID:26619011 PMID:26628864 PMID:26681312 PMID:26787237 PMID:26818906 PMID:26822237 PMID:26845104 PMID:27022024 PMID:27149858 PMID:27276561 PMID:27374712 PMID:27458004 PMID:27463065 PMID:27523101 PMID:27533082 PMID:27680515 PMID:27683180 PMID:27724982 PMID:27730344 PMID:27873457 PMID:27895058 PMID:27911860 PMID:27959731 PMID:28135145 PMID:28152038 PMID:28369373 PMID:28453743 PMID:28472496 PMID:28476805 PMID:28477316 PMID:28492532 PMID:28724667 PMID:28861920 PMID:29025599 PMID:29070607 PMID:29470806 PMID:29478780 PMID:29489754 PMID:29752822 PMID:29753700 PMID:29979965 PMID:30076369 PMID:30128536 PMID:30216591 PMID:30224644 PMID:30306255 PMID:30311369 PMID:30327374 PMID:30352134 PMID:30709381 PMID:30720243 PMID:30816478 PMID:30840781 PMID:31016814 PMID:31206626 PMID:31300551 PMID:31775759 PMID:32000721 NCBI chr12:52,939,643...52,953,786
Ensembl chr12:52,939,643...52,953,819
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 7:38,530,704...38,569,558
Ensembl chr 7:38,530,725...38,569,570
JBrowse link
G ZDBF2 zinc finger DBF-type containing 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22941189 NCBI chr15:109,563,445...109,593,858
Ensembl chr15:109,563,440...109,589,700
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 2:73,746,379...73,889,881
Ensembl chr 2:73,747,641...73,889,865
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 chr14:15,718,261...15,773,534
Ensembl chr14:15,718,266...15,763,710
JBrowse link
G RET ret proto-oncogene ISO CTD Direct Evidence: marker/mechanism CTD PMID:7915165 NCBI chr14:61,305,818...61,361,416
Ensembl chr14:61,305,841...61,361,415
JBrowse link
medulloblastoma 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 CTD Direct Evidence: marker/mechanism
associated with Adenomatous Polyposis Coli;DNA:mutations: :
CTD
RGD
PMID:7661930 PMID:17238184 RGD:6484523 NCBI chr 2:116,913,354...116,985,303
Ensembl chr 2:116,812,582...117,034,912
JBrowse link
G ARID1A AT-rich interaction domain 1A ISO ClinVar Annotator: match by term: Medulloblastoma ClinVar PMID:26822237 NCBI chr 6:84,049,729...84,124,302
Ensembl chr 6:84,049,365...84,123,384
JBrowse link
G ARID1B AT-rich interaction domain 1B ISO ClinVar Annotator: match by term: Medulloblastoma ClinVar PMID:26822237 NCBI chr 1:9,791,627...10,227,381
Ensembl chr 1:9,791,629...10,227,947
JBrowse link
G ATOH1 atonal bHLH transcription factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18347096 NCBI chr 8:125,768,232...125,770,619
Ensembl chr 8:125,769,246...125,770,307
JBrowse link
G BAP1 BRCA1 associated protein 1 ISO ClinVar Annotator: match by term: Medulloblastoma ClinVar PMID:25741868 PMID:26719535 PMID:28492532 NCBI chr13:34,544,570...34,553,538
Ensembl chr13:34,544,575...34,553,621
JBrowse link
G BRCA2 BRCA2 DNA repair associated ISO OMIM NCBI chr11:8,805,950...8,858,128 JBrowse link
G BRD2 bromodomain containing 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24231268 NCBI chr 7:25,096,579...25,162,591
Ensembl chr 7:25,150,658...25,165,433
JBrowse link
G BRD4 bromodomain containing 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24231268 PMID:31594641 NCBI chr 2:62,250,958...62,345,851
Ensembl chr 2:62,250,987...62,345,387
JBrowse link
G CCND1 cyclin D1 ISO RGD PMID:16943274 RGD:13681932 NCBI chr 2:3,621,242...3,633,380
Ensembl chr 2:3,621,246...3,633,296
JBrowse link
G CCNE1 cyclin E1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19270706 NCBI chr 6:39,919,541...39,933,224
Ensembl chr 6:39,919,624...39,933,366
JBrowse link
G CDK6 cyclin dependent kinase 6 disease_progression ISO CTD Direct Evidence: marker/mechanism RGD
CTD
PMID:16314645 PMID:19270706 PMID:23138228 RGD:13702096 NCBI chr 9:72,510,858...72,765,631
Ensembl chr 9:72,518,101...72,764,129
JBrowse link
G CDK9 cyclin dependent kinase 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:31594641 NCBI chr 1:268,277,083...268,280,493
Ensembl chr 1:268,275,891...268,281,057
JBrowse link
G CREBBP CREB binding protein ISO ClinVar Annotator: match by term: Medulloblastoma
ClinVar Annotator: match by term: Medulloblastoma, somatic
ClinVar PMID:21390126 PMID:21680795 PMID:21796119 PMID:22832583 PMID:23334668 PMID:23685749 PMID:23778141 PMID:26087898 PMID:26619011 PMID:27257180 PMID:28492532 PMID:29551561 NCBI chr 3:38,388,366...38,530,243
Ensembl chr 3:38,388,547...38,530,230
JBrowse link
G CTNNB1 catenin beta 1 ISO OMIM NCBI chr13:25,163,550...25,208,314
Ensembl chr13:25,137,173...25,208,311
JBrowse link
G DDX3X DEAD-box helicase 3 X-linked ISO ClinVar Annotator: match by term: Medulloblastoma ClinVar PMID:26822237 NCBI chr  X:36,988,031...37,005,496
Ensembl chr  X:36,988,031...37,044,769
JBrowse link
G DICER1 dicer 1, ribonuclease III ISO ClinVar Annotator: match by term: Medulloblastoma ClinVar PMID:25741868 NCBI chr 7:116,361,630...116,436,471
Ensembl chr 7:116,361,630...116,436,519
JBrowse link
G DNMT1 DNA methyltransferase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19155313 NCBI chr 2:68,981,564...69,040,364
Ensembl chr 2:68,981,564...69,029,919
JBrowse link
G EHMT1 euchromatic histone lysine methyltransferase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19270706
G EP300 E1A binding protein p300 ISO ClinVar Annotator: match by term: Medulloblastoma ClinVar PMID:26619011 NCBI chr 5:7,311,165...7,394,515
Ensembl chr 5:7,311,171...7,393,760
JBrowse link
G ERBB2 erb-b2 receptor tyrosine kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20168248 NCBI chr12:22,591,621...22,621,384
Ensembl chr12:22,590,725...22,621,351
JBrowse link
G ESR2 estrogen receptor 2 ISO CTD Direct Evidence: therapeutic CTD PMID:21351254 NCBI chr 1:193,823,666...193,907,330
Ensembl chr 1:193,722,164...193,906,565
JBrowse link
G FBXW7 F-box and WD repeat domain containing 7 ISO ClinVar Annotator: match by term: Medulloblastoma, somatic ClinVar PMID:26619011 NCBI chr 8:76,482,027...76,699,354
Ensembl chr 8:76,482,022...76,699,351
JBrowse link
G FGFR1 fibroblast growth factor receptor 1 ISO ClinVar Annotator: match by term: Medulloblastoma ClinVar PMID:10766980 PMID:23819449 PMID:25705862 PMID:26619011 PMID:26822237 PMID:26942290 PMID:27626068 NCBI chr15:48,053,895...48,106,634
Ensembl chr15:48,053,340...48,106,746
JBrowse link
G FLI1 Fli-1 proto-oncogene, ETS transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:19270706 NCBI chr 9:55,612,905...55,749,784
Ensembl chr 9:55,612,902...55,749,781
JBrowse link
G FOXO3 forkhead box O3 ISO ClinVar Annotator: match by term: Medulloblastoma ClinVar PMID:26822237 NCBI chr 1:74,626,673...74,760,323
Ensembl chr 1:74,628,217...74,760,328
JBrowse link
G HIC1 HIC ZBTB transcriptional repressor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18347096 NCBI chr12:48,167,861...48,172,540
Ensembl chr12:48,168,766...48,171,635
JBrowse link
G IDH1 isocitrate dehydrogenase (NADP(+)) 1 ISO ClinVar Annotator: match by term: Medulloblastoma, somatic ClinVar PMID:18772396 PMID:19657110 PMID:19798509 PMID:19818334 PMID:20946881 PMID:21352804 PMID:21446021 PMID:22160010 PMID:22397365 PMID:22417203 PMID:22898539 PMID:23558169 PMID:24606448 PMID:25043048 PMID:25157968 PMID:25741868 PMID:26619011 PMID:27993330 NCBI chr15:111,341,153...111,362,330
Ensembl chr15:111,341,152...111,362,280
JBrowse link
G IRS2 insulin receptor substrate 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19270706 NCBI chr11:76,626,158...76,654,639
Ensembl chr11:76,626,179...76,653,881
JBrowse link
G KAT6A lysine acetyltransferase 6A ISO CTD Direct Evidence: marker/mechanism CTD PMID:19270706 NCBI chr17:11,002,818...11,109,974 JBrowse link
G KDM4B lysine demethylase 4B ISO CTD Direct Evidence: marker/mechanism
mRNA:increased expression:brain (human)
CTD
RGD
PMID:19270706 RGD:9587481 NCBI chr 2:73,746,379...73,889,881
Ensembl chr 2:73,747,641...73,889,865
JBrowse link
G KDM4C lysine demethylase 4C ISO mRNA:increased expression:brain (human)
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:19270706 RGD:9587481 NCBI chr 1:215,071,335...215,507,778
Ensembl chr 1:215,071,334...215,507,800
JBrowse link
G L3MBTL2 L3MBTL histone methyl-lysine binding protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19270706 NCBI chr 5:7,257,806...7,277,633
Ensembl chr 5:7,253,644...7,277,576
JBrowse link
G L3MBTL3 L3MBTL histone methyl-lysine binding protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19270706 NCBI chr 1:33,198,295...33,319,477
Ensembl chr 1:33,198,301...33,319,367
JBrowse link
G MPL MPL proto-oncogene, thrombopoietin receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:19270706 NCBI chr 6:167,896,191...167,908,988
Ensembl chr 6:167,896,287...167,908,560
JBrowse link
G MYC MYC proto-oncogene, bHLH transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:19270706 PMID:31694585 NCBI chr 4:12,455,141...12,460,360
Ensembl chr 4:12,455,119...12,461,078
JBrowse link
G MYCL MYCL proto-oncogene, bHLH transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:19270706 NCBI chr 6:95,696,086...95,702,627
Ensembl chr 6:95,696,094...95,702,648
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 3:121,543,201...121,549,678
Ensembl chr 3:121,542,275...121,549,491
JBrowse link
G NRAS NRAS proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Medulloblastoma, somatic ClinVar PMID:2407301 PMID:2674680 PMID:2989702 PMID:3102434 PMID:8120410 PMID:16291983 PMID:17332249 PMID:17517660 PMID:18375819 PMID:18390968 PMID:18633438 PMID:19657110 PMID:19775298 PMID:20130576 PMID:20179705 PMID:21079152 PMID:22962325 PMID:23414587 PMID:23431193 PMID:25157968 PMID:26619011 PMID:27993330 NCBI chr 4:105,845,913...105,853,769
Ensembl chr 4:105,845,872...105,858,227
JBrowse link
G OTX2 orthodenticle homeobox 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19270706 NCBI chr 1:186,028,575...186,039,026
Ensembl chr 1:186,028,575...186,038,229
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 chr 8:40,966,568...41,021,440
Ensembl chr 8:40,967,493...41,021,442
JBrowse link
G PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha ISO ClinVar Annotator: match by term: Medulloblastoma, somatic ClinVar PMID:15016963 PMID:15254419 PMID:15520168 PMID:15608678 PMID:15647370 PMID:15805248 PMID:16353168 PMID:16906227 PMID:16930767 PMID:17376864 PMID:17673550 PMID:18371219 PMID:18676830 PMID:18725974 PMID:19029981 PMID:19223544 PMID:19366826 PMID:19513541 PMID:19671852 PMID:19903786 PMID:20177704 PMID:20453058 PMID:20619739 PMID:21430269 PMID:21558396 PMID:21824802 PMID:22162582 PMID:22162589 PMID:22271473 PMID:22658544 PMID:22729222 PMID:22729224 PMID:23100325 PMID:24033266 PMID:24782230 PMID:25157968 PMID:25741868 PMID:26266975 PMID:26266985 PMID:26619011 PMID:26822237 PMID:27626068 PMID:27631024 PMID:28492532 PMID:29446767 PMID:31775759 NCBI chr13:117,193,935...117,282,151
Ensembl chr13:117,180,544...117,277,232
JBrowse link
G PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma ISO CTD Direct Evidence: marker/mechanism CTD PMID:21652733 NCBI chr 9:106,698,200...106,748,217
Ensembl chr 9:106,698,207...106,745,099
JBrowse link
G PRAME PRAME nuclear receptor transcriptional regulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:16179254 NCBI chr14:48,901,097...48,906,855 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 chr12:11,662,344...11,681,490
Ensembl chr12:11,662,347...11,681,202
JBrowse link
G PRMT5 protein arginine methyltransferase 5 ISO CTD Direct Evidence: therapeutic CTD PMID:31694585 NCBI chr 7:76,110,956...76,119,619
Ensembl chr 7:76,110,951...76,136,597
JBrowse link
G PTCH1 patched 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Medulloblastoma
CTD
ClinVar
PMID:18347096 PMID:19155313 PMID:19213072 PMID:25741868 PMID:28492532 NCBI chr10:26,627,165...26,703,225
Ensembl chr10:26,627,325...26,703,225
JBrowse link
G PTCH2 patched 2 ISO OMIM NCBI chr 6:166,491,649...166,513,137
Ensembl chr 6:166,495,763...166,512,648
JBrowse link
G RASSF1 Ras association domain family member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21880625 NCBI chr13:32,816,156...32,825,486
Ensembl chr13:32,816,154...32,825,369
JBrowse link
G RB1 RB transcriptional corepressor 1 ISO ClinVar Annotator: match by term: Medulloblastoma RGD
ClinVar
PMID:10783170 PMID:25741868 PMID:28492532 RGD:1302544 NCBI chr11:19,186,754...19,317,642
Ensembl chr11:19,186,759...19,317,690
JBrowse link
G RET ret proto-oncogene ISO ClinVar Annotator: match by term: Medulloblastoma ClinVar PMID:11436122 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr14:61,305,818...61,361,416
Ensembl chr14:61,305,841...61,361,415
JBrowse link
G S100A10 S100 calcium binding protein A10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17579622 NCBI chr 4:97,261,752...97,272,517
Ensembl chr 4:97,261,815...97,272,513
JBrowse link
G S100A4 S100 calcium binding protein A4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17579622 NCBI chr 4:96,088,102...96,091,160
Ensembl chr 4:96,088,201...96,091,156
JBrowse link
G S100A6 S100 calcium binding protein A6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17579622 NCBI chr 4:96,098,264...96,099,686
Ensembl chr 4:96,098,283...96,099,685
JBrowse link
G SCG5 secretogranin V ISO CTD Direct Evidence: marker/mechanism CTD PMID:17334394 NCBI chr 1:136,525,920...136,590,021
Ensembl chr 1:136,525,943...136,593,583
JBrowse link
G SCML2 Scm polycomb group protein like 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19270706 NCBI chr  X:14,715,357...14,823,016
Ensembl chr  X:14,717,605...14,823,413
JBrowse link
G SF3B2 splicing factor 3b subunit 2 ISO ClinVar Annotator: match by term: Medulloblastoma, somatic ClinVar PMID:26619011 NCBI chr 2:6,279,039...6,295,550
Ensembl chr 2:6,279,048...6,294,640
JBrowse link
G SKP2 S-phase kinase associated protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19270706 NCBI chr16:21,463,270...21,500,925
Ensembl chr16:21,463,012...21,502,550
JBrowse link
G SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 ISO ClinVar Annotator: match by term: Medulloblastoma ClinVar PMID:26822237 NCBI chr 2:69,717,175...69,810,301
Ensembl chr 2:69,662,238...69,810,298
JBrowse link
G SMO smoothened, frizzled class receptor ISO ClinVar Annotator: match by term: Medulloblastoma ClinVar PMID:19726788 PMID:22679179 PMID:25759020 NCBI chr18:19,450,730...19,478,796
Ensembl chr18:19,450,734...19,479,374
JBrowse link
G SMYD4 SET and MYND domain containing 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19270706 NCBI chr12:47,944,220...48,009,606
Ensembl chr12:47,944,148...48,009,586
JBrowse link
G STAT3 signal transducer and activator of transcription 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19001435 NCBI chr12:20,407,316...20,471,091
Ensembl chr12:20,407,233...20,472,993
JBrowse link
G STRADA STE20 related adaptor alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:21652733 NCBI chr12:15,191,793...15,222,709
Ensembl chr12:15,191,782...15,227,697
JBrowse link
G SUFU SUFU negative regulator of hedgehog signaling ISO OMIM NCBI chr14:113,500,001...113,628,064
Ensembl chr14:113,500,842...113,614,517
JBrowse link
G TP53 tumor protein p53 disease_progression ISO protein:increased expression:nucleus:
ClinVar Annotator: match by term: Medulloblastoma, somatic
RGD
ClinVar
PMID:1359493 PMID:1565143 PMID:1565144 PMID:1631137 PMID:1644930 PMID:1683921 PMID:1737852 PMID:1978757 PMID:2046748 PMID:2826609 PMID:7732013 PMID:7887414 PMID:8062826 PMID:8099841 PMID:8164043 PMID:8423216 PMID:8425176 PMID:8479749 PMID:8527048 PMID:8825920 PMID:9096669 PMID:9242456 PMID:9290701 PMID:9407971 PMID:9546439 PMID:9569050 PMID:9598730 PMID:9632751 PMID:9635828 PMID:9825943 PMID:10411893 PMID:10783170 PMID:10797439 PMID:10864200 PMID:11051239 PMID:11139324 PMID:11180592 PMID:11370630 PMID:11451203 PMID:11479205 PMID:11782540 PMID:11793474 PMID:11920959 PMID:12007217 PMID:12672316 PMID:12826609 PMID:12917626 PMID:15004724 PMID:15017592 PMID:15037740 PMID:15381368 PMID:15390294 PMID:15607980 PMID:15607981 PMID:15722483 PMID:15825182 PMID:15951970 PMID:16401470 PMID:16489069 PMID:16682957 PMID:16818505 PMID:16861262 PMID:17417627 PMID:17427234 PMID:17540308 PMID:17606709 PMID:17636407 PMID:18511570 PMID:18685109 PMID:19378321 PMID:19556618 PMID:20013323 PMID:20113312 PMID:20128691 PMID:20407015 PMID:20516128 PMID:20522432 PMID:20693561 PMID:21187651 PMID:21305319 PMID:21319261 PMID:21343334 PMID:21484931 PMID:21519010 PMID:21535297 PMID:21552135 PMID:21601526 PMID:21761402 PMID:22006311 PMID:22110706 PMID:22186996 PMID:22233476 PMID:22265402 PMID:22710932 PMID:22713868 PMID:22811390 PMID:22899716 PMID:22915647 PMID:22919068 PMID:22983585 PMID:23161690 PMID:23165212 PMID:23172776 PMID:23175693 PMID:23246812 PMID:23263379 PMID:23538418 PMID:23667202 PMID:23792586 PMID:23950206 PMID:24033266 PMID:24038938 PMID:24381225 PMID:24487413 PMID:24501221 PMID:24573247 PMID:24603336 PMID:24641375 PMID:24651012 PMID:24651015 PMID:24677579 PMID:24810334 PMID:25157968 PMID:25339994 PMID:25525159 PMID:25584008 PMID:25741868 PMID:25787918 PMID:25925845 PMID:25927356 PMID:25952993 PMID:26014290 PMID:26024390 PMID:26230955 PMID:26271412 PMID:26467025 PMID:26585234 PMID:26619011 PMID:26681312 PMID:26787237 PMID:26822237 PMID:26845104 PMID:27276561 PMID:27374712 PMID:27463065 PMID:27533082 PMID:27680515 PMID:27683180 PMID:27724982 PMID:27895058 PMID:27959731 PMID:28152038 PMID:28369373 PMID:28453743 PMID:28472496 PMID:28492532 PMID:28724667 PMID:28861920 PMID:28915717 PMID:29025599 PMID:29478780 PMID:29489754 PMID:29752822 PMID:29979965 PMID:30076369 PMID:30224644 PMID:30327374 PMID:30816478 PMID:31775759 PMID:32000721 RGD:1302544 RGD:8547823 NCBI chr12:52,939,643...52,953,786
Ensembl chr12:52,939,643...52,953,819
JBrowse link
G TSC2 TSC complex subunit 2 ISO DNA:polymorphism:intron RGD PMID:11603814 RGD:11072879 NCBI chr 3:39,898,924...39,935,579
Ensembl chr 3:39,898,922...39,937,371
JBrowse link
G VAV1 vav guanine nucleotide exchange factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19270706 NCBI chr 2:72,327,433...72,391,649
Ensembl chr 2:72,326,714...72,391,648
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:24033266 PMID:25182132 PMID:25390333 PMID:25741868 PMID:28492532 NCBI chr15:53,966,968...54,094,855
Ensembl chr15:53,966,972...54,094,587
JBrowse link
melanoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCB5 ATP binding cassette subfamily B member 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15899824 NCBI chr 9:89,620,783...89,751,876
Ensembl chr 9:89,595,284...89,738,368
JBrowse link
G ACER3 alkaline ceramidase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr 9:10,985,078...11,167,386
Ensembl chr 9:10,951,561...11,165,493
JBrowse link
G ADAMTS20 ADAM metallopeptidase with thrombospondin type 1 motif 20 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21559390 NCBI chr 5:74,502,098...74,672,703
Ensembl chr 5:74,502,099...74,672,737
JBrowse link
G AGER advanced glycosylation end-product specific receptor treatment ISO RGD PMID:15009731 RGD:8695970 NCBI chr 7:24,218,116...24,221,162
Ensembl chr 7:24,218,116...24,228,756
JBrowse link
G AKT1 AKT serine/threonine kinase 1 ISO ClinVar Annotator: match by term: MELANOMA, MALIGNANT, SOMATIC
ClinVar Annotator: match by term: Melanoma
ClinVar PMID:17611497 PMID:18256540 PMID:18392055 PMID:18504432 PMID:18611285 PMID:19418217 PMID:19487299 PMID:19853286 PMID:20233444 PMID:20453058 PMID:21464312 PMID:21512767 PMID:21793738 PMID:22538770 PMID:22610119 PMID:22722201 PMID:22722839 PMID:22980975 PMID:23237847 PMID:23348505 PMID:23700467 PMID:23728071 PMID:23934607 PMID:24190505 PMID:24265152 PMID:24657128 PMID:25157968 PMID:26619011 PMID:28492532
G ALDH1A1 aldehyde dehydrogenase 1 family member A1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:31580832 NCBI chr 1:226,163,347...226,217,342
Ensembl chr 1:226,161,296...226,217,312
JBrowse link
G ALDH1A3 aldehyde dehydrogenase 1 family member A3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:31580832 NCBI chr 1:139,451,080...139,491,514
Ensembl chr 1:139,451,049...139,491,513
JBrowse link
G AMIGO2 adhesion molecule with Ig like domain 2 treatment ISO RGD PMID:26553931 RGD:14392781 NCBI chr 5:77,642,144...77,645,748
Ensembl chr 5:77,642,193...77,645,754
JBrowse link
G APEX1 apurinic/apyrimidinic endodeoxyribonuclease 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16373707 NCBI chr 7:78,451,845...78,454,938
Ensembl chr 7:78,451,851...78,454,938
JBrowse link
G ARL2 ADP ribosylation factor like GTPase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr 2:7,157,963...7,167,024
Ensembl chr 2:7,157,963...7,167,329
JBrowse link
G ARL5B ADP ribosylation factor like GTPase 5B ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr10:55,675,129...55,700,389
Ensembl chr10:55,675,138...55,700,305
JBrowse link
G ARNT aryl hydrocarbon receptor nuclear translocator ISO CTD Direct Evidence: marker/mechanism CTD PMID:21983785 NCBI chr 4:98,333,431...98,390,012
Ensembl chr 4:98,333,459...98,404,961
JBrowse link
G ARPC2 actin related protein 2/3 complex subunit 2 ISO protein:increased expression:nevus (human) RGD PMID:19332774 RGD:11049176 NCBI chr15:120,297,122...120,328,795
Ensembl chr15:120,297,127...120,329,059
JBrowse link
G ASF1A anti-silencing function 1A histone chaperone ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr 1:43,200,339...43,215,019
Ensembl chr 1:43,200,414...43,214,913
JBrowse link
G ASIP agouti signaling protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:18488027 PMID:18641652 PMID:21983785 NCBI chr17:37,542,615...37,718,787 JBrowse link
G ASS1 argininosuccinate synthase 1 ISO RGD PMID:12359751 RGD:4140479 NCBI chr 1:270,531,434...270,586,364
Ensembl chr 1:270,531,589...270,586,361
JBrowse link
G ATM ATM serine/threonine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:21983787 NCBI chr 9:36,620,656...36,759,555
Ensembl chr 9:36,620,658...36,759,554
JBrowse link
G ATRX ATRX chromatin remodeler disease_progression ISO protein:decreased expression:skin: RGD PMID:24468746 RGD:9586028 NCBI chr  X:61,584,028...61,872,341
Ensembl chr  X:61,584,848...61,872,288
JBrowse link
G AURKA aurora kinase A ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr17:56,954,838...56,972,435 JBrowse link
G B2M beta-2-microglobulin ISO ClinVar Annotator: match by term: MELANOMA, MALIGNANT, SOMATIC ClinVar PMID:26619011 NCBI chr 1:126,837,721...126,844,043
Ensembl chr 1:126,835,143...126,981,582
JBrowse link
G BATF2 basic leucine zipper ATF-like transcription factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr 2:7,180,019...7,188,996
Ensembl chr 2:7,180,258...7,188,990
JBrowse link
G BCL2 BCL2 apoptosis regulator severity ISO protein:increased expression:lymph node (human) RGD PMID:8783649 RGD:11526106 NCBI chr 1:158,337,403...158,518,214
Ensembl chr 1:158,288,544...158,518,879
JBrowse link
G BCL2L1 BCL2 like 1 disease_progression ISO protein:increased expression:skin, subcutaneous tissue (human) RGD PMID:17384650 RGD:11353861 NCBI chr17:35,366,139...35,415,798
Ensembl chr17:35,366,141...35,415,359
JBrowse link
G BCL2L12 BCL2 like 12 ISO ClinVar Annotator: match by term: MELANOMA, MALIGNANT, SOMATIC ClinVar PMID:26619011 NCBI chr 6:54,706,453...54,715,127
Ensembl chr 6:54,707,237...54,715,127
JBrowse link
G BMP4 bone morphogenetic protein 4 susceptibility ISO DNA:SNP:cds:6007C>T (rs17563)(human) RGD PMID:19557432 RGD:9068447 NCBI chr 1:183,415,989...183,422,888
Ensembl chr 1:183,416,134...183,792,417
JBrowse link
G BRAF B-Raf proto-oncogene, serine/threonine kinase treatment
onset
ISO ClinVar Annotator: match by term: Melanoma
ClinVar Annotator: match by term: Malignant melanoma, somatic
ClinVar Annotator: match by term: MELANOMA, MALIGNANT, SOMATIC
DNA:mutations: :
CTD Direct Evidence: marker/mechanism
RGD
ClinVar
CTD
PMID:2493360 PMID:2872605 PMID:8042262 PMID:12068308 PMID:12198537 PMID:12438234 PMID:12447372 PMID:12460918 PMID:12460919 PMID:12619120 PMID:12644542 PMID:12670889 PMID:12794760 PMID:12960123 PMID:14513361 PMID:14602780 PMID:14612909 PMID:14678966 PMID:14679157 PMID:14688025 PMID:15001635 PMID:15016963 PMID:15035987 PMID:15126572 PMID:15181070 PMID:15342696 PMID:15356022 PMID:15386408 PMID:15687339 PMID:15753399 PMID:15998781 PMID:16015629 PMID:16174717 PMID:16187918 PMID:16424035 PMID:16439621 PMID:16474404 PMID:16772349 PMID:17096326 PMID:17119447 PMID:17311103 PMID:17374713 PMID:17488796 PMID:17603483 PMID:17704260 PMID:17785355 PMID:18039235 PMID:18042262 PMID:18060073 PMID:18186519 PMID:18368129 PMID:18398503 PMID:18413255 PMID:18421705 PMID:18794803 PMID:19001320 PMID:19010912 PMID:19018267 PMID:19206169 PMID:19238210 PMID:19282848 PMID:19376813 PMID:19383316 PMID:19404918 PMID:19537845 PMID:19561230 PMID:19735675 PMID:19913317 PMID:20008640 PMID:20130576 PMID:20141835 PMID:20301365 PMID:20350999 PMID:20413299 PMID:20619739 PMID:20630094 PMID:20735442 PMID:20818844 PMID:20823850 PMID:20857202 PMID:20973932 PMID:21107320 PMID:21107323 PMID:21129611 PMID:21156289 PMID:21163703 PMID:21426297 PMID:21483012 PMID:21499247 PMID:21502544 PMID:21606968 PMID:21639808 PMID:21641636 PMID:21656352 PMID:21683865 PMID:21750866 PMID:21770473 PMID:21784453 PMID:21802280 PMID:21975775 PMID:22038996 PMID:22048237 PMID:22113612 PMID:22180495 PMID:22281684 PMID:22310681 PMID:22319199 PMID:22351686 PMID:22356324 PMID:22389471 PMID:22448344 PMID:22495831 PMID:22535842 PMID:22536370 PMID:22586120 PMID:22608338 PMID:22649091 PMID:22663011 PMID:22735384 PMID:22743296 PMID:22773810 PMID:22798288 PMID:22805292 PMID:22842228 PMID:22876591 PMID:22892241 PMID:22972589 PMID:22997239 PMID:23020132 PMID:23031422 PMID:23093928 PMID:23237741 PMID:23248257 PMID:23251002 PMID:23273605 PMID:23302800 PMID:23325582 PMID:23352452 PMID:23432625 PMID:23470635 PMID:23524406 PMID:23549875 PMID:23584600 PMID:23587417 PMID:23614898 PMID:23685455 PMID:23715574 PMID:23812671 PMID:23833300 PMID:23845441 PMID:23907581 PMID:23918947 PMID:24033266 PMID:24107445 PMID:24112392 PMID:24154489 PMID:24163374 PMID:24388723 PMID:24446311 PMID:24508103 PMID:24512911 PMID:24576830 PMID:24583796 PMID:24586605 PMID:24594804 PMID:24670642 PMID:24710085 PMID:24717435 PMID:24918823 PMID:24926260 PMID:25024077 PMID:25037139 PMID:25043973 PMID:25079330 PMID:25157968 PMID:25265492 PMID:25265494 PMID:25348715 PMID:25370471 PMID:25399551 PMID:25463315 PMID:25623140 PMID:25741868 PMID:25950823 PMID:25989278 PMID:26192916 PMID:26214590 PMID:26582644 PMID:26619011 PMID:26678033 PMID:27222248 PMID:27404270 PMID:27480103 PMID:27689874 PMID:28492532 PMID:28832562 PMID:28854169 PMID:28891408 PMID:29084544 PMID:29426936 PMID:29493581 PMID:29574239 PMID:29595366 PMID:29925953 PMID:30138938 PMID:30732632 PMID:31580832 PMID:31779674 PMID:31891627 RGD:11567259 RGD:11567267 RGD:1580103 NCBI chr18:8,957,963...9,132,558
Ensembl chr18:8,957,959...9,132,553
JBrowse link
G BRCA2 BRCA2 DNA repair associated susceptibility ISO DNA:polymorphism:cds:p.N991D(human)
ClinVar Annotator: match by term: Melanoma
RGD
ClinVar
PMID:18024013 PMID:25741868 PMID:28492532 RGD:9068469 NCBI chr11:8,805,950...8,858,128 JBrowse link
G BRD2 bromodomain containing 2 ISO protein:mRNA:skin: RGD PMID:23950209 RGD:9586346 NCBI chr 7:25,096,579...25,162,591
Ensembl chr 7:25,150,658...25,165,433
JBrowse link
G BRD4 bromodomain containing 4 ISO protein:mRNA:skin: RGD PMID:23950209 RGD:9586346 NCBI chr 2:62,250,958...62,345,851
Ensembl chr 2:62,250,987...62,345,387
JBrowse link
G BZW1 basic leucine zipper and W2 domains 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr15:104,525,900...104,543,795
Ensembl chr15:104,525,451...104,667,812
JBrowse link
G C2H11orf68 chromosome 2 C11orf68 homolog ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr 2:6,411,946...6,414,286
Ensembl chr 2:6,409,490...6,414,286
JBrowse link
G C3 complement C3 treatment ISO RGD PMID:17146472 RGD:7401279 NCBI chr 2:72,431,470...72,471,622
Ensembl chr 2:72,431,499...72,528,112
JBrowse link
G CAPN1 calpain 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr 2:6,997,513...7,024,410
Ensembl chr 2:6,997,516...7,081,432
JBrowse link
G CASP10 caspase 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18563783 NCBI chr15:104,858,082...104,895,941
Ensembl chr15:104,858,100...104,894,933
JBrowse link
G CASP8 caspase 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18563783 PMID:21983787 NCBI chr15:104,923,659...104,948,470
Ensembl chr15:104,923,953...104,948,470
JBrowse link
G CAT catalase ISO protein:increased activity:multiple:
protein:increased activity:melanocyte:
RGD PMID:9758419 PMID:15224238 RGD:9479151 RGD:9479742 NCBI chr 2:26,493,664...26,533,881
Ensembl chr 2:26,487,653...26,581,452
JBrowse link
G CAV1 caveolin 1 disease_progression ISO RGD PMID:22134245 RGD:8661767 NCBI chr18:29,648,120...29,682,451
Ensembl chr18:29,649,992...29,682,465
JBrowse link
G CBS cystathionine beta-synthase ISO CTD Direct Evidence: marker/mechanism CTD PMID:25205294 NCBI chr13:206,205,942...206,231,363 JBrowse link
G CCDC63 coiled-coil domain containing 63 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21499247 NCBI chr14:32,140,323...32,300,930 JBrowse link
G CD163L1 CD163 molecule-like 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22842228 NCBI chr 5:63,488,674...63,514,536 JBrowse link
G CD40 CD40 molecule treatment ISO RGD PMID:17327609 PMID:22421945 RGD:11522740 RGD:11522745 NCBI chr17:48,286,116...48,298,188
Ensembl chr17:48,286,029...48,298,528
JBrowse link
G CDK2 cyclin dependent kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21559390 NCBI chr 5:21,365,723...21,372,170
Ensembl chr 5:21,365,763...21,392,726
JBrowse link
G CDK4 cyclin dependent kinase 4 ISO ClinVar Annotator: match by term: Malignant melanoma
ClinVar Annotator: match by term: MELANOMA, MALIGNANT, SOMATIC
ClinVar PMID:5377176 PMID:7652577 PMID:8528263 PMID:8968104 PMID:9228064 PMID:9425228 PMID:11756559 PMID:15880589 PMID:21801156 PMID:22804906 PMID:23384855 PMID:23546221 PMID:24256466 PMID:25157968 PMID:25741868 PMID:26619011 PMID:28492532 PMID:29774366 NCBI chr 5:23,039,206...23,041,959
Ensembl chr 5:23,038,889...23,042,061
JBrowse link
G CDKN1A cyclin dependent kinase inhibitor 1A ISO protein:increased expression:skin RGD PMID:9194578 PMID:22311377 RGD:8662421 RGD:8662817 NCBI chr 7:32,354,776...32,363,771
Ensembl chr 7:32,359,455...32,363,761
JBrowse link
G CDKN1C cyclin dependent kinase inhibitor 1C ISO CTD Direct Evidence: marker/mechanism CTD PMID:17145863 NCBI chr 2:2,019,391...2,022,092
Ensembl chr 2:2,019,490...2,021,853
JBrowse link
G CHI3L1 chitinase 3 like 1 severity ISO protein:increased secretion:serum (human) RGD PMID:16456816 RGD:4892643 NCBI chr 9:113,885,541...113,895,033
Ensembl chr 9:113,885,542...113,895,510
JBrowse link
G CLNS1A chloride nucleotide-sensitive channel 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr 9:12,092,990...12,113,668
Ensembl chr 9:11,830,106...12,113,671
JBrowse link
G CLU clusterin ISO CTD Direct Evidence: therapeutic CTD PMID:15955107 NCBI chr14:11,336,585...11,352,569
Ensembl chr14:11,336,590...11,352,475
JBrowse link
G CNNM1 cyclin and CBS domain divalent metal cation transport mediator 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16778180 NCBI chr14:110,539,360...110,601,721
Ensembl chr14:110,539,426...110,601,721
JBrowse link
G COL2A1 collagen type II alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:16778180 NCBI chr 5:78,350,131...78,380,893
Ensembl chr 5:78,350,220...78,380,924
JBrowse link
G CP ceruloplasmin ISO CTD Direct Evidence: marker/mechanism CTD PMID:23792645 NCBI chr13:89,396,713...89,463,540
Ensembl chr13:89,396,685...89,463,538
JBrowse link
G CPT1C carnitine palmitoyltransferase 1C ISO CTD Direct Evidence: marker/mechanism CTD PMID:16778180 NCBI chr 6:54,732,701...54,747,706
Ensembl chr 6:54,731,557...54,749,249
JBrowse link
G CREBBP CREB binding protein ISO ClinVar Annotator: match by term: MELANOMA, MALIGNANT, SOMATIC ClinVar PMID:21390126 PMID:21680795 PMID:21796119 PMID:22832583 PMID:23334668 PMID:23685749 PMID:23778141 PMID:26087898 PMID:26619011 PMID:27257180 PMID:28492532 PMID:29551561 NCBI chr 3:38,388,366...38,530,243
Ensembl chr 3:38,388,547...38,530,230
JBrowse link
G CRNKL1 crooked neck pre-mRNA splicing factor 1 ISO ClinVar Annotator: match by term: MELANOMA, MALIGNANT, SOMATIC ClinVar PMID:26619011 NCBI chr17:28,079,541...28,111,871
Ensembl chr17:28,077,707...28,111,545
JBrowse link
G CRYBG1 crystallin beta-gamma domain containing 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22402438 NCBI chr 1:72,552,858...72,763,553
Ensembl chr 1:72,515,942...72,826,360
JBrowse link
G CSF2 colony stimulating factor 2 ISO CTD Direct Evidence: therapeutic CTD PMID:11061616 NCBI chr 2:134,354,724...134,357,155
Ensembl chr 2:134,354,724...134,357,155
JBrowse link
G CSF3 colony stimulating factor 3 ISO CTD Direct Evidence: therapeutic CTD PMID:16120623 PMID:16260693 NCBI chr12:22,333,445...22,335,949
Ensembl chr12:22,333,445...22,342,163
JBrowse link
G CST6 cystatin E/M ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr 2:6,323,737...6,325,519
Ensembl chr 2:6,323,737...6,325,477
JBrowse link
G CTH cystathionine gamma-lyase ISO CTD Direct Evidence: marker/mechanism CTD PMID:25205294 NCBI chr 6:142,454,922...142,486,352
Ensembl chr 6:142,435,690...142,486,367
JBrowse link
G CTLA4 cytotoxic T-lymphocyte associated protein 4 treatment ISO CTD Direct Evidence: therapeutic
DNA:SNPs: :-11577G>A,rs3087243(human)
CTD
RGD
PMID:21802280 PMID:23641913 RGD:7411681 NCBI chr15:107,283,081...107,288,041
Ensembl chr15:107,282,926...107,289,103
JBrowse link
G CTNNB1 catenin beta 1 ISO ClinVar Annotator: match by term: MELANOMA, MALIGNANT, SOMATIC
ClinVar Annotator: match by term: Malignant melanoma, somatic
ClinVar Annotator: match by term: Melanoma
ClinVar PMID:9065402 PMID:9065403 PMID:9294210 PMID:9500465 PMID:9927029 PMID:10027390 PMID:10192393 PMID:10398436 PMID:10435629 PMID:10655994 PMID:10666372 PMID:11351304 PMID:11930117 PMID:11950921 PMID:12124804 PMID:15133491 PMID:19234609 PMID:23265383 PMID:24788118 PMID:25157968 PMID:26619011 PMID:26822237 NCBI chr13:25,163,550...25,208,314
Ensembl chr13:25,137,173...25,208,311
JBrowse link
G CUBN cubilin ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr10:43,102,931...43,414,692
Ensembl chr10:43,102,946...43,414,613
JBrowse link
G CUL3 cullin 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr15:126,191,605...126,287,148
Ensembl chr15:126,189,851...126,287,037
JBrowse link
G CYP1B1 cytochrome P450 family 1 subfamily B member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17145863 NCBI chr 3:102,195,743...102,205,687
Ensembl chr 3:102,195,741...102,206,750
JBrowse link
G DCBLD1 discoidin, CUB and LCCL domain containing 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr 1:44,301,108...44,373,712
Ensembl chr 1:44,276,675...44,374,143
JBrowse link
G DCC DCC netrin 1 receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:22842228 NCBI chr 1:101,518,629...103,087,021
Ensembl chr 1:102,080,200...103,087,249
JBrowse link
G DDIT4L DNA damage inducible transcript 4 like ISO CTD Direct Evidence: marker/mechanism CTD PMID:16778180 NCBI chr 8:120,371,724...120,376,444
Ensembl chr 8:120,371,538...120,376,441
JBrowse link
G DLG2 discs large MAGUK scaffold protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr 9:17,575,991...19,547,417
Ensembl chr 9:17,576,135...19,546,887
JBrowse link
G DNAJC1 DnaJ heat shock protein family (Hsp40) member C1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr10:52,862,813...53,060,747
Ensembl chr10:52,862,835...53,060,740
JBrowse link
G DNAJC15 DnaJ heat shock protein family (Hsp40) member C15 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17145863 NCBI chr11:24,011,530...24,087,156
Ensembl chr11:23,994,030...24,087,067
JBrowse link
G DRAP1 DR1 associated protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr 2:6,409,623...6,411,935
Ensembl chr 2:6,409,625...6,412,395
JBrowse link
G DSC1 desmocollin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22197931 NCBI chr 6:115,042,225...115,076,097
Ensembl chr 6:115,039,719...115,076,097
JBrowse link
G E2F1 E2F transcription factor 1 ISO CTD Direct Evidence: marker/mechanism|therapeutic CTD PMID:15574415 PMID:16827129 NCBI chr17:37,178,587...37,190,118
Ensembl chr17:37,178,598...37,189,841
JBrowse link
G ECHDC1 ethylmalonyl-CoA decarboxylase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr 1:35,852,939...35,909,314
Ensembl chr 1:35,852,934...35,909,956
JBrowse link
G EDA ectodysplasin A ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr  X:55,770,958...56,103,296
Ensembl chr  X:55,771,240...56,103,265
JBrowse link
G EHMT2 euchromatic histone lysine methyltransferase 2 disease_progression ISO RGD PMID:24658378 RGD:9590069 NCBI chr 7:23,977,683...23,992,673
Ensembl chr 7:23,977,683...23,993,478
JBrowse link
G EIF1AD eukaryotic translation initiation factor 1A domain containing ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr 2:6,334,882...6,340,125
Ensembl chr 2:6,334,197...6,340,112
JBrowse link
G ELN elastin disease_progression ISO associated with Nevus, Pigmented; RGD PMID:11979070 PMID:19032378 RGD:9585752 RGD:9585768 NCBI chr 3:11,214,194...11,245,891
Ensembl chr 3:11,214,073...11,244,897
JBrowse link
G ENG endoglin treatment ISO RGD PMID:23076642 RGD:7248785 NCBI chr 1:268,309,379...268,343,861
Ensembl chr 1:268,306,120...268,343,827
JBrowse link
G EP300 E1A binding protein p300 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23698071 NCBI chr 5:7,311,165...7,394,515
Ensembl chr 5:7,311,171...7,393,760
JBrowse link
G EPB41 erythrocyte membrane protein band 4.1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17145863 NCBI chr 6:85,842,538...86,029,522
Ensembl chr 6:85,842,605...86,029,522
JBrowse link
G EPHX3 epoxide hydrolase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16778180 NCBI chr 2:62,348,531...62,353,118
Ensembl chr 2:62,348,957...62,353,117
JBrowse link
G EPO erythropoietin ISO CTD Direct Evidence: marker/mechanism CTD PMID:15743794 NCBI chr 3:8,620,508...8,622,936
Ensembl chr 3:8,620,508...8,622,936
JBrowse link
G EPOR erythropoietin receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:21860424 NCBI chr 2:70,063,601...70,068,821
Ensembl chr 2:70,063,515...70,068,821
JBrowse link
G ERBB2 erb-b2 receptor tyrosine kinase 2 ISO ClinVar Annotator: match by term: MELANOMA, MALIGNANT, SOMATIC ClinVar PMID:18413839 PMID:22046346 PMID:23220880 PMID:25157968 PMID:26619011 NCBI chr12:22,591,621...22,621,384
Ensembl chr12:22,590,725...22,621,351
JBrowse link
G ERBB4 erb-b2 receptor tyrosine kinase 4 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Melanoma
ClinVar Annotator: match by term: Malignant melanoma, somatic
CTD
ClinVar
PMID:19718025 NCBI chr15:113,966,573...115,096,984
Ensembl chr15:113,973,037...114,696,375
JBrowse link
G ERCC1 ERCC excision repair 1, endonuclease non-catalytic subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:21722328 NCBI chr 6:51,783,537...51,808,898 JBrowse link
G ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit disease_progression ISO DNA:polymorphism:exon:p.K751Q(human) RGD PMID:21390047 RGD:12880434 NCBI chr 6:51,734,318...51,757,508
Ensembl chr 6:51,734,319...51,779,624
JBrowse link
G ERCC5 ERCC excision repair 5, endonuclease disease_progression ISO DNA:polymorphism:exon:p.D1104H(human) RGD PMID:21390047 RGD:12880434 NCBI chr11:71,141,823...71,168,326
Ensembl chr11:71,141,798...71,168,321
JBrowse link
G ESR1 estrogen receptor 1 severity ISO RGD PMID:19153340 RGD:8553064 NCBI chr 1:14,217,032...14,604,906
Ensembl chr 1:14,217,036...14,493,363
JBrowse link
G ESR2 estrogen receptor 2 severity ISO RGD PMID:19153340 RGD:8553064 NCBI chr 1:193,823,666...193,907,330
Ensembl chr 1:193,722,164...193,906,565
JBrowse link
G F2RL1 F2R like trypsin receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17145863 NCBI chr 2:85,732,082...85,747,552
Ensembl chr 2:85,732,189...85,750,858
JBrowse link
G FAS Fas cell surface death receptor susceptibility ISO DNA:polymorphisms:promoter:-1377A>G,-670A>G(human) RGD PMID:16538172 RGD:12903985 NCBI chr14:100,927,305...100,954,781 JBrowse link
G FASLG Fas ligand susceptibility ISO CTD Direct Evidence: therapeutic
DNA:polymorphisms,haplotype:promoter:-844C>T,IVS2nt-124A>G(human)
CTD
RGD
PMID:16487513 PMID:16538172 RGD:12903985 NCBI chr 9:115,068,314...115,075,147
Ensembl chr 9:115,068,090...115,076,475
JBrowse link
G FASN fatty acid synthase ISO CTD Direct Evidence: marker/mechanism CTD PMID:18770866 PMID:20805790 PMID:21213365 NCBI chr12:922,405...937,560
Ensembl chr12:920,507...937,559
JBrowse link
G FAT4 FAT atypical cadherin 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22197931 NCBI chr 8:99,141,967...99,312,131 JBrowse link
G FBN1 fibrillin 1 ISO ClinVar Annotator: match by term: Malignant melanoma ClinVar PMID:7611299 PMID:8894692 PMID:9401003 PMID:9536098 PMID:10533071 PMID:10874320 PMID:11700157 PMID:12402346 PMID:12938084 PMID:14695540 PMID:16220557 PMID:16222657 PMID:16835936 PMID:17253931 PMID:17576681 PMID:17657824 PMID:17663468 PMID:19159394 PMID:19293843 PMID:21542060 PMID:24033266 PMID:24161884 PMID:25741868 PMID:26133393 PMID:28492532 NCBI chr 1:123,102,011...123,359,649
Ensembl chr 1:123,102,009...123,359,649
JBrowse link
G FBXW7 F-box and WD repeat domain containing 7 ISO ClinVar Annotator: match by term: MELANOMA, MALIGNANT, SOMATIC ClinVar PMID:25741868 PMID:26619011 NCBI chr 8:76,482,027...76,699,354
Ensembl chr 8:76,482,022...76,699,351
JBrowse link
G FHIP2A FHF complex subunit HOOK interacting protein 2A ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr14:125,158,615...125,195,864
Ensembl chr14:125,158,648...125,193,069
JBrowse link
G FLT1 fms related receptor tyrosine kinase 1 ISO protein:increased expression:serum:
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:19718025 PMID:21730877 RGD:8552360 NCBI chr11:5,620,698...5,797,095
Ensembl chr11:5,620,700...5,795,264
JBrowse link
G FTO FTO alpha-ketoglutarate dependent dioxygenase ISO CTD Direct Evidence: marker/mechanism CTD PMID:23455637 NCBI chr 6:31,177,112...31,564,674
Ensembl chr 6:31,174,569...31,564,707
JBrowse link
G GAB2 GRB2 associated binding protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr 9:12,663,658...12,851,423
Ensembl chr 9:12,656,882...12,851,402
JBrowse link
G GDF15 growth differentiation factor 15 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17145863 NCBI chr 2:59,409,035...59,411,356
Ensembl chr 2:59,408,904...59,411,358
JBrowse link
G GLO1 glyoxalase I ISO CTD Direct Evidence: marker/mechanism CTD PMID:20093988 NCBI chr 7:34,156,194...34,183,560
Ensembl chr 7:34,068,806...34,183,528
JBrowse link
G GNA11 G protein subunit alpha 11 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Malignant melanoma, somatic
ClinVar Annotator: match by term: MELANOMA, MALIGNANT, SOMATIC
CTD
ClinVar
PMID:1328859 PMID:2549426 PMID:21083380 PMID:21444680 PMID:22733540 PMID:22808163 PMID:23432625 PMID:24141786 PMID:25157968 PMID:26619011 NCBI chr 2:75,439,405...75,456,855
Ensembl chr 2:75,437,201...75,457,092
JBrowse link
G GNAQ G protein subunit alpha q ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Melanoma
ClinVar Annotator: match by term: Malignant melanoma, somatic
CTD
ClinVar
PMID:1328859 PMID:2549426 PMID:18719078 PMID:19078957 PMID:21083380 PMID:22253748 PMID:22653968 PMID:22733540 PMID:22808163 PMID:23432625 PMID:25157968 NCBI chr 1:230,607,469...230,906,988
Ensembl chr 1:230,605,229...230,907,675
JBrowse link
G GNAS GNAS complex locus ISO ClinVar Annotator: match by term: MELANOMA, MALIGNANT, SOMATIC ClinVar PMID:1594625 PMID:1944469 PMID:2549426 PMID:3720010 PMID:7739708 PMID:8766942 PMID:9626141 PMID:12727968 PMID:12970318 PMID:15126527 PMID:16507630 PMID:21835143 PMID:23536913 PMID:24855271 PMID:25157968 PMID:26619011 NCBI chr17:58,985,580...59,053,022
Ensembl chr17:58,998,981...59,053,021
JBrowse link
G GOPC golgi associated PDZ and coiled-coil motif containing ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr 1:44,239,364...44,285,886
Ensembl chr 1:44,239,383...44,287,198
JBrowse link
G GPAM glycerol-3-phosphate acyltransferase, mitochondrial ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr14:122,538,600...122,582,390
Ensembl chr14:122,538,600...122,724,131
JBrowse link
G GPER1 G protein-coupled estrogen receptor 1 severity ISO protein:increased expression:skin (human) RGD PMID:28467693 RGD:39939016 NCBI chr 3:711,427...715,982
Ensembl chr 3:712,160...715,982
JBrowse link
G GPHA2 glycoprotein hormone subunit alpha 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr 2:7,245,287...7,248,268
Ensembl chr 2:7,247,231...7,247,886
JBrowse link
G GRIN2A glutamate ionotropic receptor NMDA type subunit 2A ISO CTD Direct Evidence: marker/mechanism CTD PMID:21499247 NCBI chr 3:32,749,329...33,149,350
Ensembl chr 3:32,752,351...33,143,499
JBrowse link
G GRM3 glutamate metabotropic receptor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21946352 PMID:22842228 NCBI chr 9:93,731,210...93,974,718
Ensembl chr 9:93,731,210...93,973,729
JBrowse link
G HDAC2 histone deacetylase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr 1:79,867,713...79,901,597
Ensembl chr 1:79,863,094...79,901,585
JBrowse link
G HDAC3 histone deacetylase 3 ISO associated with Anaphylaxis; RGD PMID:24619412 RGD:9590165 NCBI chr 2:143,273,188...143,287,421
Ensembl chr 2:143,273,191...143,287,387
JBrowse link
G HDAC6 histone deacetylase 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr  X:42,917,911...42,941,894
Ensembl chr  X:42,917,960...42,941,890
JBrowse link
G HIKESHI heat shock protein nuclear import factor hikeshi ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr 9:20,181,187...20,224,116
Ensembl chr 9:20,181,235...20,280,211
JBrowse link
G HOXA9 homeobox A9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16778180 NCBI chr18:45,404,594...45,411,512 JBrowse link
G HOXB13 homeobox B13 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17145863 NCBI chr12:24,948,307...24,950,661
Ensembl chr12:24,947,728...24,950,637
JBrowse link
G HOXD12 homeobox D12 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16778180 NCBI chr15:81,900,962...81,902,327
Ensembl chr15:81,901,032...81,901,994
JBrowse link
G HPSE heparanase ISO CTD Direct Evidence: marker/mechanism CTD PMID:22240343 NCBI chr 8:135,082,199...135,120,887
Ensembl chr 8:135,081,151...135,120,889
JBrowse link
G HRAS HRas proto-oncogene, GTPase ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Malignant melanoma
ClinVar Annotator: match by term: Malignant melanoma, somatic
ClinVar Annotator: match by term: Melanoma
ClinVar Annotator: match by term: MELANOMA, MALIGNANT, SOMATIC
CTD
ClinVar
PMID:1904555 PMID:2999610 PMID:3510078 PMID:3537694 PMID:6092966 PMID:6330729 PMID:7177195 PMID:8960317 PMID:11150980 PMID:12835555 PMID:16155195 PMID:16170316 PMID:16329078 PMID:16372351 PMID:16443854 PMID:16835863 PMID:16881968 PMID:16969868 PMID:17054105 PMID:17211612 PMID:17384584 PMID:17412879 PMID:17979197 PMID:18039947 PMID:18042262 PMID:18247425 PMID:18978862 PMID:19206176 PMID:19213030 PMID:19255327 PMID:19371735 PMID:19382114 PMID:19669404 PMID:19773371 PMID:20660566 PMID:20859122 PMID:20979192 PMID:21438134 PMID:21495179 PMID:21686750 PMID:21834037 PMID:21850009 PMID:22087699 PMID:22256804 PMID:22317973 PMID:22495892 PMID:22499344 PMID:22683711 PMID:22726224 PMID:22926243 PMID:23093928 PMID:23096712 PMID:23406027 PMID:23429430 PMID:23751039 PMID:23884457 PMID:24006476 PMID:24033266 PMID:24129065 PMID:24169525 PMID:24224811 PMID:24390138 PMID:24803665 PMID:25157968 PMID:25326635 PMID:25695684 PMID:25741868 PMID:25914166 PMID:26619011 PMID:27195699 PMID:27589201 PMID:28027064 PMID:28139825 PMID:28492532 PMID:29493581 PMID:30619488 PMID:31394527 PMID:31775759 PMID:168335863 NCBI chr 2:299,662...302,539
Ensembl chr 2:299,660...302,501
JBrowse link
G HS3ST5 heparan sulfate-glucosamine 3-sulfotransferase 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr 1:79,956,485...80,140,140
Ensembl chr 1:79,955,657...80,243,797
JBrowse link
G ICAM1 intercellular adhesion molecule 1 disease_progression ISO RGD PMID:8599446 RGD:8547584 NCBI chr 2:69,097,136...69,107,722
Ensembl chr 2:69,097,122...69,108,205
JBrowse link
G IDH1 isocitrate dehydrogenase (NADP(+)) 1 ISO ClinVar Annotator: match by term: MELANOMA, MALIGNANT, SOMATIC
ClinVar Annotator: match by term: Malignant melanoma, somatic
ClinVar PMID:18772396 PMID:19657110 PMID:19798509 PMID:19818334 PMID:20946881 PMID:21352804 PMID:21446021 PMID:22160010 PMID:22397365 PMID:22417203 PMID:22898539 PMID:23558169 PMID:24606448 PMID:25043048 PMID:25157968 PMID:25741868 PMID:26619011 PMID:27993330 NCBI chr15:111,341,153...111,362,330
Ensembl chr15:111,341,152...111,362,280
JBrowse link
G IFNA1 interferon, alpha 1 ISO CTD Direct Evidence: therapeutic CTD PMID:15176220 PMID:15577320 PMID:15577323 PMID:16034308 PMID:16260693 PMID:16260697 PMID:16432458 NCBI chr 1:201,515,835...201,516,477
Ensembl chr 1:201,736,694...201,750,298
JBrowse link
G IFNB1 interferon beta 1 ISO CTD Direct Evidence: therapeutic CTD PMID:16928243 PMID:21846298 NCBI chr 1:201,850,935...201,851,495
Ensembl chr 1:201,850,935...201,851,495
JBrowse link
G IFNG interferon gamma ISO CTD Direct Evidence: therapeutic CTD PMID:9794839 NCBI chr 5:32,477,906...32,482,670
Ensembl chr 5:32,477,848...32,482,752
JBrowse link
G IL17D interleukin 17D severity ISO RGD PMID:31244826 RGD:40903065 NCBI chr11:1,029,219...1,066,086
Ensembl chr11:1,029,308...1,066,085
JBrowse link
G IL1RAPL1 interleukin 1 receptor accessory protein like 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr  X:24,408,092...25,811,129
Ensembl chr  X:24,645,529...25,805,945
JBrowse link
G IL1RN interleukin 1 receptor antagonist ISO mouse model treated with human protein RGD PMID:8168095 RGD:6909140
G IL2 interleukin 2 ISO CTD Direct Evidence: therapeutic CTD PMID:12374674 PMID:12439608 PMID:15577323 PMID:15917704 PMID:16131448 PMID:16248763 PMID:16260693 PMID:16432458 PMID:16809738 PMID:16939954 PMID:17023156 PMID:17105418 PMID:17576460 PMID:17709802 PMID:17761969 PMID:18176117 PMID:18281670 PMID:18298334 PMID:18332650 PMID:18999936 PMID:19243244 PMID:20423231 NCBI chr 8:101,640,938...101,645,683
Ensembl chr 8:101,640,944...101,645,609
JBrowse link
G INCENP inner centromere protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr 2:9,411,942...9,445,825
Ensembl chr 2:9,411,942...9,445,832
JBrowse link
G IQCH IQ motif containing H ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr 1:165,193,090...165,419,528
Ensembl chr 1:165,193,111...165,431,058
JBrowse link
G JAKMIP2 janus kinase and microtubule interacting protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22842228 NCBI chr 2:148,864,445...149,045,921
Ensembl chr 2:148,781,723...149,045,927
JBrowse link
G JMJD6 jumonji domain containing 6, arginine demethylase and lysine hydroxylase ISO CTD Direct Evidence: marker/mechanism CTD PMID:30619488 NCBI chr12:4,809,014...4,819,853
Ensembl chr12:4,808,691...4,818,062
JBrowse link
G KDM1A lysine demethylase 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:29438700 NCBI chr 6:80,903,407...80,971,875
Ensembl chr 6:80,903,496...80,971,595
JBrowse link
G KDM4A lysine demethylase 4A ISO CTD Direct Evidence: marker/mechanism CTD PMID:29438700 NCBI chr 6:167,597,954...167,642,381
Ensembl chr 6:167,597,956...167,642,309
JBrowse link
G KDM4B lysine demethylase 4B ISO CTD Direct Evidence: marker/mechanism CTD PMID:29438700 NCBI chr 2:73,746,379...73,889,881
Ensembl chr 2:73,747,641...73,889,865
JBrowse link
G KDM4C lysine demethylase 4C ISO CTD Direct Evidence: marker/mechanism CTD PMID:29438700 NCBI chr 1:215,071,335...215,507,778
Ensembl chr 1:215,071,334...215,507,800
JBrowse link
G KDM7A lysine demethylase 7A ISO human gene in a mouse model RGD PMID:22143793 RGD:9587848 NCBI chr18:9,581,468...9,664,750
Ensembl chr18:9,581,384...9,664,749
JBrowse link
G KDR kinase insert domain receptor treatment
disease_progression
ISO protein:increased expression:serum:
protein:increased expression, altered expression:skin:
RGD PMID:12415261 PMID:15714119 PMID:21730877 RGD:126925192 RGD:8551851 RGD:8552360 NCBI chr 8:41,809,116...41,856,379
Ensembl chr 8:41,809,116...41,856,339
JBrowse link
G KHDRBS2 KH RNA binding domain containing, signal transduction associated 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21499247 NCBI chr 7:27,348,614...27,895,572
Ensembl chr 7:27,389,874...27,895,570
JBrowse link
G KIF18B kinesin family member 18B ISO CTD Direct Evidence: marker/mechanism CTD PMID:31617652 NCBI chr12:18,426,828...18,448,214
Ensembl chr12:18,426,835...18,448,213
JBrowse link
G KIT KIT proto-oncogene, receptor tyrosine kinase disease_progression ISO ClinVar Annotator: match by term: Melanoma
ClinVar Annotator: match by term: Malignant melanoma, somatic
RGD
ClinVar
PMID:7513208 PMID:7530509 PMID:8589724 PMID:9310959 PMID:9438854 PMID:9657776 PMID:10224103 PMID:10362788 PMID:10680913 PMID:11073817 PMID:11276010 PMID:11505412 PMID:11526490 PMID:12697809 PMID:12960119 PMID:14977822 PMID:15685537 PMID:15790786 PMID:16046538 PMID:16226710 PMID:16638875 PMID:16731599 PMID:16741525 PMID:16751810 PMID:16908931 PMID:16954519 PMID:17259998 PMID:17363509 PMID:17372901 PMID:17489795 PMID:17699867 PMID:17824795 PMID:18421059 PMID:18448188 PMID:18510589 PMID:18936790 PMID:18955458 PMID:18980976 PMID:19164557 PMID:19671763 PMID:19737976 PMID:19812602 PMID:19865100 PMID:19996579 PMID:20088873 PMID:20147452 PMID:20545949 PMID:20736294 PMID:21131919 PMID:21159146 PMID:21569090 PMID:21642685 PMID:21689725 PMID:21690468 PMID:21969494 PMID:22160160 PMID:22261812 PMID:22355224 PMID:22357254 PMID:22626674 PMID:22932406 PMID:23106360 PMID:23149070 PMID:23375402 PMID:23582185 PMID:23598963 PMID:23648119 PMID:23714533 PMID:23775962 PMID:24531699 PMID:24661573 PMID:24755198 PMID:25157968 PMID:25741868 PMID:26619011 PMID:26822237 PMID:27771813 PMID:28492532 PMID:29098070 RGD:12910725 NCBI chr 8:41,402,334...41,492,306
Ensembl chr 8:41,402,043...41,493,735
JBrowse link
G KLRB1 killer cell lectin like receptor B1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17295095 NCBI chr 5:62,244,787...62,257,691
Ensembl chr 5:62,244,855...62,257,691
JBrowse link
G KLRK1 killer cell lectin like receptor K1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17295095 NCBI chr 5:61,646,691...61,655,386
Ensembl chr 5:61,623,200...61,656,195
JBrowse link
G KNSTRN kinetochore localized astrin (SPAG5) binding protein ISO ClinVar Annotator: match by term: MELANOMA, MALIGNANT, SOMATIC ClinVar PMID:26619011 NCBI chr 1:130,916,956...130,930,172
Ensembl chr 1:130,893,983...130,940,350
JBrowse link
G KRAS KRAS proto-oncogene, GTPase ISO ClinVar Annotator: match by term: MELANOMA, MALIGNANT, SOMATIC ClinVar PMID:2278970 PMID:3122217 PMID:12460918 PMID:15696205 PMID:16361624 PMID:16434492 PMID:16618717 PMID:18316791 PMID:18794081 PMID:19075190 PMID:19114683 PMID:19679400 PMID:20921462 PMID:20921465 PMID:21228335 PMID:22407852 PMID:22722830 PMID:23325582 PMID:25157968 PMID:26619011 NCBI chr 5:48,508,774...48,546,260
Ensembl chr 5:48,508,790...48,549,346
JBrowse link
G LGALS3 galectin 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23994248 NCBI chr 1:184,478,639...184,496,155
Ensembl chr 1:184,478,710...184,497,951
JBrowse link
G LOC100739163 glutathione S-transferase P-like ISO DNA:polymorphism:cds:p.I50V(human) RGD PMID:23568549 RGD:8547833 NCBI chr 2:4,978,761...4,982,233 JBrowse link
G LRP1B LDL receptor related protein 1B ISO CTD Direct Evidence: marker/mechanism CTD PMID:22197931 NCBI chr15:9,612,805...11,499,969
Ensembl chr15:9,613,539...11,499,965
JBrowse link
G LRRC56 leucine rich repeat containing 56 ISO ClinVar Annotator: match by term: MELANOMA, MALIGNANT, SOMATIC
ClinVar Annotator: match by term: Malignant melanoma, somatic
ClinVar Annotator: match by term: Melanoma
ClinVar PMID:1904555 PMID:2999610 PMID:3510078 PMID:3537694 PMID:6092966 PMID:6330729 PMID:7177195 PMID:8960317 PMID:11150980 PMID:12835555 PMID:16155195 PMID:16170316 PMID:16329078 PMID:16372351 PMID:16443854 PMID:16835863 PMID:16881968 PMID:16969868 PMID:17054105 PMID:17211612 PMID:17384584 PMID:17412879 PMID:17979197 PMID:18039947 PMID:18042262 PMID:18247425 PMID:18978862 PMID:19206176 PMID:19213030 PMID:19255327 PMID:19371735 PMID:19382114 PMID:19669404 PMID:19773371 PMID:20660566 PMID:20859122 PMID:20979192 PMID:21438134 PMID:21495179 PMID:21686750 PMID:21834037 PMID:21850009 PMID:22087699 PMID:22256804 PMID:22317973 PMID:22495892 PMID:22499344 PMID:22683711 PMID:22726224 PMID:22926243 PMID:23093928 PMID:23096712 PMID:23406027 PMID:23429430 PMID:23751039 PMID:23884457 PMID:24006476 PMID:24033266 PMID:24129065 PMID:24169525 PMID:24224811 PMID:24390138 PMID:24803665 PMID:25157968 PMID:25326635 PMID:25695684 PMID:25741868 PMID:25914166 PMID:26619011 PMID:27195699 PMID:27589201 PMID:28027064 PMID:28139825 PMID:28492532 PMID:29493581 PMID:31394527 PMID:31775759 PMID:168335863 NCBI chr 2:303,836...323,701
Ensembl chr 2:304,429...323,700
JBrowse link
G LTA lymphotoxin alpha disease_progression ISO RGD PMID:9182821 RGD:8548801 NCBI chr 7:23,696,387...23,698,280
Ensembl chr 7:23,696,039...23,698,302
JBrowse link
G LXN latexin ISO CTD Direct Evidence: marker/mechanism CTD PMID:17145863 NCBI chr13:98,435,318...98,441,823
Ensembl chr13:98,435,319...98,441,785
JBrowse link
G MAP2K1 mitogen-activated protein kinase kinase 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Melanoma
ClinVar Annotator: match by term: Malignant melanoma, somatic
ClinVar Annotator: match by term: MELANOMA, MALIGNANT, SOMATIC
CTD
ClinVar
PMID:7651428 PMID:17366577 PMID:17551924 PMID:17704260 PMID:18060073 PMID:18456719 PMID:18632602 PMID:19411838 PMID:19915144 PMID:21107320 PMID:21383288 PMID:22197931 PMID:22327936 PMID:22588879 PMID:22622578 PMID:23444215 PMID:23569304 PMID:23614898 PMID:24033266 PMID:24448821 PMID:24803665 PMID:25049390 PMID:25157968 PMID:25741868 PMID:26619011 PMID:28049852 PMID:28492532 PMID:28495673 PMID:29643386 PMID:30763456 NCBI chr 1:164,381,892...164,469,313
Ensembl chr 1:164,381,845...164,471,226
JBrowse link
G MAP2K2 mitogen-activated protein kinase kinase 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Melanoma
CTD
ClinVar
PMID:22197931 PMID:24265153 PMID:24265154 NCBI chr 2:74,626,739...74,651,352
Ensembl chr 2:74,626,658...74,651,348
JBrowse link
G MAP3K5 mitogen-activated protein kinase kinase kinase 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22197930 NCBI chr 1:27,380,143...27,600,500
Ensembl chr 1:27,380,142...27,600,495
JBrowse link
G MAP3K9 mitogen-activated protein kinase kinase kinase 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22197930 NCBI chr 7:94,296,349...94,380,060
Ensembl chr 7:94,303,085...94,380,296
JBrowse link
G MC1R melanocortin 1 receptor ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Malignant melanoma
ClinVar Annotator: match by term: Malignant Melanoma Susceptibility
DNA:missense mutations:cds:multiple (human)
CTD
ClinVar
RGD
PMID:7581459 PMID:8894704 PMID:16809487 PMID:16982779 PMID:17434924 PMID:17616515 PMID:18366057 PMID:19578364 PMID:19799798 PMID:21128237 PMID:21559390 PMID:21983785 PMID:23647022 PMID:24033266 PMID:25741868 PMID:26103569 PMID:26197705 PMID:28492532 RGD:1600619 RGD:6484659 NCBI chr 6:181,225...182,187
Ensembl chr 6:181,225...182,187
JBrowse link
G MDM2 MDM2 proto-oncogene ISO CTD Direct Evidence: marker/mechanism CTD PMID:17210701 NCBI chr 5:33,105,717...33,137,602
Ensembl chr 5:33,086,994...33,178,089
JBrowse link
G MELTF melanotransferrin ISO CTD Direct Evidence: marker/mechanism CTD PMID:16704991 NCBI chr13:133,094,869...133,122,092
Ensembl chr13:133,094,863...133,122,065
JBrowse link
G MET MET proto-oncogene, receptor tyrosine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:29426936 NCBI chr18:29,426,044...29,541,526
Ensembl chr18:29,426,044...29,541,512
JBrowse link
G MGMT O-6-methylguanine-DNA methyltransferase ISO protein:increased activity:skin tumor (rat) RGD PMID:20182810 RGD:2316960 NCBI chr14:138,502,005...138,771,543
Ensembl chr14:138,499,161...138,779,938
JBrowse link
G MITF melanocyte inducing transcription factor ISO mRNA:increased expression:blood
ClinVar Annotator: match by term: Melanoma
CTD Direct Evidence: marker/mechanism
RGD
ClinVar
CTD
PMID:2440678 PMID:15103749 PMID:22012259 PMID:22080950 PMID:22158021 PMID:23167872 PMID:23774529 PMID:23787126 PMID:23802662 PMID:24033266 PMID:24290354 PMID:24352080 PMID:24406078 PMID:24660985 PMID:24767713 PMID:25043973 PMID:25407435 PMID:25741868 PMID:25803691 PMID:25975176 PMID:26650189 PMID:26775776 PMID:26800492 PMID:26999813 PMID:27473757 PMID:27680874 PMID:28125078 PMID:28376192 PMID:28492532 PMID:29706638 PMID:30414346 RGD:13204752 NCBI chr13:51,177,356...51,422,096
Ensembl chr13:51,178,203...51,422,096
JBrowse link
G MLANA melan-A ISO CTD Direct Evidence: marker/mechanism CTD PMID:26640592 NCBI chr 1:216,230,472...216,247,171
Ensembl chr 1:216,232,563...216,245,389
JBrowse link
G MLLT10 MLLT10 histone lysine methyltransferase DOT1L cofactor ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr10:53,072,056...53,315,351
Ensembl chr10:53,072,056...53,315,363
JBrowse link
G MMP8 matrix metallopeptidase 8 ISO CTD Direct Evidence: therapeutic CTD PMID:19330028 NCBI chr 9:33,384,034...33,397,637
Ensembl chr 9:33,384,028...33,396,947
JBrowse link
G MPST mercaptopyruvate sulfurtransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:25205294 NCBI chr 5:10,739,179...10,749,826
Ensembl chr 5:10,739,195...10,749,731
JBrowse link
G MRPL49 mitochondrial ribosomal protein L49 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr 2:7,066,514...7,071,812
Ensembl chr 2:7,058,088...7,071,812
JBrowse link
G MTAP methylthioadenosine phosphorylase ISO CTD Direct Evidence: marker/mechanism CTD PMID:19578364 NCBI chr 1:200,882,954...200,934,389
Ensembl chr 1:200,882,955...200,934,639
JBrowse link
G MTOR mechanistic target of rapamycin kinase ISO ClinVar Annotator: match by term: MELANOMA, MALIGNANT, SOMATIC ClinVar PMID:24631838 PMID:26018084 PMID:26619011 PMID:27159400 PMID:27830187 NCBI chr 6:71,286,989...71,412,913
Ensembl chr 6:71,286,989...71,412,888
JBrowse link
G MTPAP mitochondrial poly(A) polymerase ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr10:40,764,098...40,869,608
Ensembl chr10:40,764,362...40,872,854
JBrowse link
G MYO7A myosin VIIA ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr 9:11,251,187...11,337,618
Ensembl chr 9:11,249,075...11,666,296
JBrowse link
G NDRG1 N-myc downstream regulated 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15341671 NCBI chr 4:8,014,445...8,069,335
Ensembl chr 4:8,014,446...8,069,333
JBrowse link
G NF1 neurofibromin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25119042 PMID:26214590 NCBI chr12:43,487,098...43,754,205
Ensembl chr12:43,489,171...43,754,176
JBrowse link
G NFKB1 nuclear factor kappa B subunit 1 ISO DNA:insertion(s) RGD PMID:17492467 RGD:2298900 NCBI chr 8:118,391,010...118,478,927
Ensembl chr 8:118,390,637...118,506,691
JBrowse link
G NFKBIA NFKB inhibitor alpha ISO DNA:insertion(s) RGD PMID:17492467 RGD:2298900 NCBI chr 7:64,508,119...64,510,754
Ensembl chr 7:64,508,016...64,558,057
JBrowse link
G NFKBIE NFKB inhibitor epsilon ISO CTD Direct Evidence: marker/mechanism CTD PMID:26343386 NCBI chr 7:39,255,078...39,266,085
Ensembl chr 7:39,255,075...39,263,339
JBrowse link
G NGFR nerve growth factor receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:30339727 NCBI chr12:25,699,410...25,720,355
Ensembl chr12:25,699,427...25,720,357
JBrowse link
G NPAP1 nuclear pore associated protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22842228 NCBI chr 1:233,074,862...233,080,760 JBrowse link
G NPPA natriuretic peptide A ISO CTD Direct Evidence: therapeutic CTD PMID:18004088 NCBI chr 6:71,919,557...71,921,345
Ensembl chr 6:71,919,495...71,932,254
JBrowse link
G NRAS NRAS proto-oncogene, GTPase ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Melanoma
ClinVar Annotator: match by term: Malignant melanoma, somatic
ClinVar Annotator: match by term: MELANOMA, MALIGNANT, SOMATIC
CTD
ClinVar
PMID:1654209 PMID:2278970 PMID:2407301 PMID:2674680 PMID:2989702 PMID:3102434 PMID:3122217 PMID:6587382 PMID:8120410 PMID:10598665 PMID:10821536 PMID:12460918 PMID:12727991 PMID:14508525 PMID:14982869 PMID:15046639 PMID:15831708 PMID:15899789 PMID:15951308 PMID:16273091 PMID:16291983 PMID:16434492 PMID:16518851 PMID:17332249 PMID:17384584 PMID:17517660 PMID:17699718 PMID:18375819 PMID:18390968 PMID:18633438 PMID:18668139 PMID:18794081 PMID:18948947 PMID:18952898 PMID:19047918 PMID:19075190 PMID:19657110 PMID:19775298 PMID:19880792 PMID:19966803 PMID:20130576 PMID:20149136 PMID:20179705 PMID:20406486 PMID:20619739 PMID:20736745 PMID:21079152 PMID:21107323 PMID:21263000 PMID:21305640 PMID:21576590 PMID:21729679 PMID:21829508 PMID:22144181 PMID:22407852 PMID:22499344 PMID:22535842 PMID:22718121 PMID:22761467 PMID:22773810 PMID:22842228 PMID:22962325 PMID:23076151 PMID:23134356 PMID:23392294 PMID:23400451 PMID:23414587 PMID:23431193 PMID:23432625 PMID:23515407 PMID:23538902 PMID:23569304 PMID:23614898 PMID:24006476 PMID:24033266 PMID:24148783 PMID:24284627 PMID:24370118 PMID:24671188 PMID:24918823 PMID:25043973 PMID:25157968 PMID:25348872 PMID:25695684 PMID:26214590 PMID:26619011 PMID:26821351 PMID:27050078 PMID:27993330 PMID:28098151 PMID:28492532 PMID:28594414 PMID:28780248 PMID:29574239 NCBI chr 4:105,845,913...105,853,769
Ensembl chr 4:105,845,872...105,858,227
JBrowse link
G NT5DC1 5'-nucleotidase domain containing 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr 1:81,745,918...81,880,691
Ensembl chr 1:81,746,022...81,881,113
JBrowse link
G NUF2 NUF2 component of NDC80 kinetochore complex disease_progression ISO RGD PMID:27237743 RGD:28867234 NCBI chr 4:87,162,873...87,194,193
Ensembl chr 4:87,162,817...87,194,170
JBrowse link
G NUS1 NUS1 dehydrodolichyl diphosphate synthase subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr 1:44,156,771...44,186,224
Ensembl chr 1:44,156,778...44,186,194
JBrowse link
G P14ARF p14ARF protein susceptibility ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Malignant melanoma, somatic
ClinVar Annotator: match by term: Melanoma
ClinVar Annotator: match by term: MELANOMA, MALIGNANT, SOMATIC
DNA:point mutation, insertion:exon
CTD
ClinVar
RGD
PMID:7566978 PMID:7647780 PMID:7666917 PMID:7777061 PMID:7780957 PMID:7987387 PMID:8012957 PMID:8153634 PMID:8521414 PMID:8552158 PMID:8595405 PMID:8668202 PMID:8723678 PMID:8755727 PMID:8834170 PMID:9168184 PMID:9324288 PMID:9425228 PMID:9660926 PMID:9710613 PMID:9751050 PMID:9823374 PMID:9856841 PMID:10389768 PMID:10491434 PMID:10508477 PMID:10869234 PMID:11078762 PMID:11358797 PMID:11477665 PMID:11500805 PMID:11579459 PMID:11687599 PMID:11807902 PMID:12072543 PMID:12538879 PMID:14679123 PMID:15140233 PMID:15146471 PMID:16234564 PMID:16896043 PMID:16905682 PMID:17397031 PMID:17992122 PMID:18573309 PMID:19260062 PMID:19360740 PMID:20340136 PMID:20505745 PMID:21462282 PMID:21507037 PMID:21609436 PMID:21801156 PMID:24336570 PMID:24495407 PMID:24659262 PMID:25157968 PMID:25356972 PMID:25741868 PMID:26381259 PMID:26467025 PMID:26619011 PMID:26658419 PMID:26681309 PMID:26775776 PMID:27181379 PMID:28146043 PMID:28492532 PMID:28592523 PMID:28830827 PMID:29426936 PMID:29983899 PMID:30291219 PMID:30742731 PMID:31775759 RGD:1600812 RGD:8552300 NCBI chr 1:200,774,496...200,799,149
Ensembl chr 1:200,774,496...200,798,854
JBrowse link
G PARP1 poly(ADP-ribose) polymerase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28759004 NCBI chr10:14,203,157...14,241,164
Ensembl chr10:14,203,159...14,241,197
JBrowse link
G PAX4 paired box 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18949370 NCBI chr18:20,675,874...20,680,315
Ensembl chr18:20,673,167...20,680,287
JBrowse link
G PAX6 paired box 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16778180 NCBI chr 2:28,971,565...29,001,149
Ensembl chr 2:28,971,567...29,001,200
JBrowse link
G PDCD1 programmed cell death 1 treatment ISO CTD Direct Evidence: therapeutic
associated with influenza
CTD
RGD
PMID:21802280 PMID:27760326 RGD:40818261 NCBI chr15:140,337,353...140,347,493
Ensembl chr15:140,336,210...140,347,478
JBrowse link
G PDGFRA platelet derived growth factor receptor alpha ISO ClinVar Annotator: match by term: Melanoma ClinVar PMID:24132921 NCBI chr 8:40,966,568...41,021,440
Ensembl chr 8:40,967,493...41,021,442
JBrowse link
G PHGDH phosphoglycerate dehydrogenase ISO CTD Direct Evidence: marker/mechanism CTD PMID:21804546 NCBI chr 4:101,445,977...101,478,144
Ensembl chr 4:101,408,308...101,478,144
JBrowse link
G PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha ISO ClinVar Annotator: match by term: MELANOMA, MALIGNANT, SOMATIC
ClinVar Annotator: match by term: Malignant melanoma, somatic
ClinVar PMID:15016963 PMID:15254419 PMID:15520168 PMID:15608678 PMID:15647370 PMID:15805248 PMID:15930273 PMID:16353168 PMID:16906227 PMID:16930767 PMID:17376864 PMID:17673550 PMID:18371219 PMID:18676830 PMID:18725974 PMID:19029981 PMID:19223544 PMID:19366826 PMID:19513541 PMID:19671852 PMID:19903786 PMID:20177704 PMID:20453058 PMID:20619739 PMID:21078999 PMID:21430269 PMID:21558396 PMID:21824802 PMID:22162582 PMID:22162589 PMID:22271473 PMID:22658544 PMID:22729222 PMID:22729223 PMID:22729224 PMID:23066039 PMID:23100325 PMID:23408298 PMID:23888070 PMID:24033266