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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, gamma neuronal ISO RGD PMID:17537454 RGD:2293746 NCBI chr 6:124,760,053...124,769,673
Ensembl chr 6:124,760,053...124,769,673
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 4:117,925,908...117,930,795
Ensembl chr 4:117,926,162...117,929,763
JBrowse link
G Bdnf brain derived neurotrophic factor ISO mRNA:increased expression:peripheral nerve: RGD PMID:19937367 RGD:8655552 NCBI chr 2:109,674,700...109,727,043
Ensembl chr 2:109,674,700...109,727,007
JBrowse link
G Cav1 caveolin 1, caveolae protein ISO RGD PMID:20881564 RGD:8661782 NCBI chr 6:17,306,335...17,341,328
Ensembl chr 6:17,306,335...17,341,452
JBrowse link
G Cdkn1a cyclin-dependent kinase inhibitor 1A (P21) ISO mRNA,protein:decreased expression:myelinated nerve: RGD PMID:20600642 RGD:8661792 NCBI chr17:29,090,979...29,100,722
Ensembl chr17:29,090,976...29,100,727
JBrowse link
G Cyp2e1 cytochrome P450, family 2, subfamily e, polypeptide 1 ISO DNA:snp:promoter:c.-1053C>T (human) RGD PMID:12540498 RGD:1358568 NCBI chr 7:140,763,819...140,774,990
Ensembl chr 7:140,763,739...140,774,987
JBrowse link
G Ercc2 excision repair cross-complementing rodent repair deficiency, complementation group 2 susceptibility ISO DNA:missense mutation:cds:p.D312N (rs1799793) (human) RGD PMID:20150366 RGD:5688735 NCBI chr 7:19,382,017...19,395,694
Ensembl chr 7:19,382,010...19,395,694
JBrowse link
G Fgfr1 fibroblast growth factor receptor 1 disease_progression ISO RGD PMID:15354013 RGD:11567268 NCBI chr 8:25,518,759...25,575,718
Ensembl chr 8:25,513,654...25,575,718
JBrowse link
G Gdnf glial cell line derived neurotrophic factor ISO mRNA:increased expression:peripheral nerve: RGD PMID:19937367 RGD:8655552 NCBI chr15:7,810,048...7,837,580
Ensembl chr15:7,810,846...7,837,575
JBrowse link
G Igf1 insulin-like growth factor 1 susceptibility ISO protein:increased expression:serum: RGD PMID:21788435 RGD:8548833 NCBI chr10:87,858,265...87,937,047
Ensembl chr10:87,858,265...87,937,042
JBrowse link
G Igfbp3 insulin-like growth factor binding protein 3 susceptibility ISO protein:increased expression:serum: RGD PMID:21788435 RGD:8548833 NCBI chr11:7,206,086...7,215,498
Ensembl chr11:7,206,086...7,213,923
JBrowse link
G Nf2 neurofibromin 2 ISO protein:decreased expression:myelinated nerve: RGD PMID:20600642 RGD:8661792 NCBI chr11:4,757,639...4,849,544
Ensembl chr11:4,765,845...4,849,536
JBrowse link
G Vegfa vascular endothelial growth factor A ISO RGD PMID:14660915 RGD:8547959 NCBI chr17:46,016,993...46,032,377
Ensembl chr17:46,016,993...46,032,369
JBrowse link
adult pineal parenchymal tumor term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mki67 antigen identified by monoclonal antibody Ki 67 severity ISO RGD PMID:21696422 RGD:6483520 NCBI chr 7:135,689,784...135,716,450
Ensembl chr 7:135,689,784...135,716,361
JBrowse link
amelanotic melanoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ifnb1 interferon beta 1, fibroblast ISO CTD Direct Evidence: therapeutic CTD PMID:15990972 NCBI chr 4:88,522,025...88,522,794
Ensembl chr 4:88,522,025...88,522,774
JBrowse link
astroblastoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apc APC, WNT signaling pathway regulator ISO ClinVar Annotator: match by term: Neuroepithelial neoplasm ClinVar PMID:25186627 PMID:25741868 PMID:27696107 PMID:27997549 PMID:28492532 NCBI chr18:34,220,297...34,322,190
Ensembl chr18:34,220,924...34,322,552
JBrowse link
G Mir542 microRNA 542 disease_progression ISO RGD PMID:26286747 RGD:13782052 NCBI chr  X:53,049,403...53,049,487
Ensembl chr  X:53,049,403...53,049,487
JBrowse link
G Pik3r1 phosphoinositide-3-kinase regulatory subunit 1 severity ISO RGD PMID:26956052, PMID:26286747 RGD:11343921, RGD:13782052 NCBI chr13:101,680,761...101,768,217
Ensembl chr13:101,680,563...101,768,217
JBrowse link
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 5:90,460,870...90,476,602
Ensembl chr 5:90,460,897...90,476,602
JBrowse link
G Eno2 enolase 2, gamma neuronal ISO RGD PMID:17345775 RGD:2293739 NCBI chr 6:124,760,053...124,769,673
Ensembl chr 6:124,760,053...124,769,673
JBrowse link
G Men1 multiple endocrine neoplasia 1 ISO DNA:loss of heterozygosity:lung:PYGM,D11S449,D11S906(human) RGD PMID:16465412 RGD:2317351 NCBI chr19:6,334,979...6,340,894
Ensembl chr19:6,334,979...6,340,891
JBrowse link
G Mgmt O-6-methylguanine-DNA methyltransferase ISO DNA:hypermethylation:promoter (human) RGD PMID:12584572 RGD:2317635 NCBI chr 7:136,894,463...137,128,193
Ensembl chr 7:136,894,614...137,130,266
JBrowse link
G Mir10a microRNA 10a ISO CTD Direct Evidence: marker/mechanism CTD PMID:25105010 NCBI chr11:96,317,165...96,317,274
Ensembl chr11:96,317,165...96,317,274
JBrowse link
G Mir127 microRNA 127 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25105010 NCBI chr12:109,592,846...109,592,915
Ensembl chr12:109,592,846...109,592,915
JBrowse link
G Mir136 microRNA 136 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25105010 NCBI chr12:109,595,327...109,595,388
Ensembl chr12:109,595,327...109,595,388
JBrowse link
G Mir146 microRNA 146 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25105010 NCBI chr11:43,374,397...43,374,461
Ensembl chr11:43,374,397...43,374,461
JBrowse link
G Mir154 microRNA 154 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25105010 NCBI chr12:109,738,433...109,738,498
Ensembl chr12:109,738,433...109,738,498
JBrowse link
G Mir155 microRNA 155 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25105010 NCBI chr16:84,714,140...84,714,204
Ensembl chr16:84,714,140...84,714,204
JBrowse link
G Mir193a microRNA 193a ISO CTD Direct Evidence: marker/mechanism CTD PMID:25105010 NCBI chr11:79,711,969...79,712,034
Ensembl chr11:79,711,969...79,712,034
JBrowse link
G Mir222 microRNA 222 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25105010 NCBI chr  X:19,146,893...19,146,971
Ensembl chr  X:19,146,893...19,146,971
JBrowse link
G Mir224 microRNA 224 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25105010 NCBI chr  X:72,261,031...72,261,112
Ensembl chr  X:72,261,031...72,261,112
JBrowse link
G Mir302d microRNA 302d ISO CTD Direct Evidence: marker/mechanism CTD PMID:25105010 NCBI chr 3:127,545,624...127,545,689
Ensembl chr 3:127,545,624...127,545,689
JBrowse link
G Mir30a microRNA 30a ISO CTD Direct Evidence: marker/mechanism CTD PMID:25105010 NCBI chr 1:23,272,269...23,272,339
Ensembl chr 1:23,272,269...23,272,339
JBrowse link
G Mir34b microRNA 34b ISO CTD Direct Evidence: marker/mechanism CTD PMID:25105010 NCBI chr 9:51,103,562...51,103,645
Ensembl chr 9:51,103,562...51,103,645
JBrowse link
G Mir34c microRNA 34c ISO CTD Direct Evidence: marker/mechanism CTD PMID:25105010 NCBI chr 9:51,103,034...51,103,110
Ensembl chr 9:51,103,034...51,103,110
JBrowse link
G Mir369 microRNA 369 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25105010 NCBI chr12:109,743,418...109,743,496
Ensembl chr12:109,743,418...109,743,496
JBrowse link
G Mir370 microRNA 370 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25105010 NCBI chr12:109,618,258...109,618,336
Ensembl chr12:109,618,258...109,618,336
JBrowse link
G Mir409 microRNA 409 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25105010 NCBI chr12:109,743,158...109,743,236
Ensembl chr12:109,743,158...109,743,236
JBrowse link
G Mir410 microRNA 410 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25105010 NCBI chr12:109,743,715...109,743,795
Ensembl chr12:109,743,715...109,743,795
JBrowse link
G Mir432 microRNA 432 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25105010 NCBI chr12:109,594,956...109,595,030
Ensembl chr12:109,594,956...109,595,030
JBrowse link
G Mir487b microRNA 487b ISO CTD Direct Evidence: marker/mechanism CTD PMID:25105010 NCBI chr12:109,727,333...109,727,414
Ensembl chr12:109,727,333...109,727,414
JBrowse link
G Mir494 microRNA 494 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25105010 NCBI chr12:109,715,318...109,715,402
Ensembl chr12:109,715,318...109,715,402
JBrowse link
G Mir511 microRNA 511 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25105010 NCBI chr 2:14,261,003...14,261,081
Ensembl chr 2:14,261,003...14,261,081
JBrowse link
G Reg1 regenerating islet-derived 1 ISO associated with Hypergastrinemia;DNA:missense mutations:cds:multiple (human) RGD PMID:10348814 RGD:9850135 NCBI chr 6:78,425,983...78,428,668
Ensembl chr 6:78,422,711...78,428,667
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 chr13:92,354,783...92,389,053
Ensembl chr13:92,354,726...92,389,053
JBrowse link
G Kmt2d lysine (K)-specific methyltransferase 2D ISO ClinVar Annotator: match by term: Cavernous sinus meningioma ClinVar PMID:21671394 PMID:22126750 PMID:28492532 NCBI chr15:98,831,669...98,874,077
Ensembl chr15:98,831,669...98,871,204
JBrowse link
G Msh3 mutS homolog 3 ISO ClinVar Annotator: match by term: Cavernous Sinus Meningioma ClinVar NCBI chr13:92,211,878...92,355,004
Ensembl chr13:92,211,872...92,355,003
JBrowse link
cerebellar medulloblastoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Msh6 mutS homolog 6 ISO ClinVar Annotator: match by term: Cerebellar medulloblastoma ClinVar NCBI chr17:87,975,050...87,990,892
Ensembl chr17:87,975,062...87,990,892
JBrowse link
chromosome 13q14 deletion syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 4933427D06Rik RIKEN cDNA 4933427D06 gene ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr 6:89,096,110...89,110,039
Ensembl chr 6:88,950,683...89,110,031
JBrowse link
G Acod1 aconitate decarboxylase 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:103,047,012...103,056,573
Ensembl chr14:103,046,977...103,056,573
JBrowse link
G Alg11 asparagine-linked glycosylation 11 (alpha-1,2-mannosyltransferase) ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr 8:22,060,721...22,071,627
Ensembl chr 8:22,060,721...22,071,627
JBrowse link
G Arl11 ADP-ribosylation factor-like 11 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:61,306,290...61,311,937
Ensembl chr14:61,309,753...61,311,936
JBrowse link
G Atp7b ATPase, Cu++ transporting, beta polypeptide ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr 8:21,992,783...22,060,074
Ensembl chr 8:21,992,785...22,060,305
JBrowse link
G Bora bora, aurora kinase A activator ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:99,046,377...99,074,540
Ensembl chr14:99,046,222...99,074,540
JBrowse link
G Cab39l calcium binding protein 39-like ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:59,440,934...59,548,904
Ensembl chr14:59,440,972...59,585,764
JBrowse link
G Ccdc70 coiled-coil domain containing 70 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr 8:21,969,775...21,974,055
Ensembl chr 8:21,969,775...21,974,041
JBrowse link
G Cdadc1 cytidine and dCMP deaminase domain containing 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:59,559,386...59,597,985
Ensembl chr14:59,559,388...59,597,959
JBrowse link
G Ckap2 cytoskeleton associated protein 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr 8:22,168,149...22,185,819
Ensembl chr 8:22,168,160...22,185,819
JBrowse link
G Cln5 ceroid-lipofuscinosis, neuronal 5 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:103,070,216...103,077,630
Ensembl chr14:103,070,216...103,077,628
JBrowse link
G Cnmd chondromodulin ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:79,637,682...79,662,194
Ensembl chr14:79,637,690...79,662,170
JBrowse link
G Commd6 COMM domain containing 6 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:101,633,766...101,640,471
Ensembl chr14:101,632,981...101,640,686
JBrowse link
G Cysltr2 cysteinyl leukotriene receptor 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:73,025,672...73,049,114
Ensembl chr14:73,025,603...73,049,114
JBrowse link
G Dach1 dachshund family transcription factor 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:97,786,846...98,169,765
Ensembl chr14:97,786,853...98,169,765
JBrowse link
G Diaph3 diaphanous related formin 3 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:86,655,357...87,141,247
Ensembl chr14:86,655,367...87,141,235
JBrowse link
G Dis3 DIS3 homolog, exosome endoribonuclease and 3'-5' exoribonuclease ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:99,076,634...99,099,780
Ensembl chr14:99,075,206...99,099,770
JBrowse link
G Dleu7 deleted in lymphocytic leukemia, 7 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:62,276,229...62,292,979
Ensembl chr14:62,276,231...62,293,047
JBrowse link
G Ebpl emopamil binding protein-like ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:61,339,763...61,360,445
Ensembl chr14:61,331,742...61,360,439
JBrowse link
G Ednrb endothelin receptor type B ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:103,814,615...103,844,508
Ensembl chr14:103,814,625...103,844,402
JBrowse link
G Fam124a family with sequence similarity 124, member A ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:62,555,737...62,608,486
Ensembl chr14:62,555,737...62,608,486
JBrowse link
G Fbxl3 F-box and leucine-rich repeat protein 3 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:103,080,239...103,099,566
Ensembl chr14:103,080,239...103,099,566
JBrowse link
G Fndc3a fibronectin type III domain containing 3A ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:72,537,948...72,710,701
Ensembl chr14:72,537,946...72,710,003
JBrowse link
G Gm4131 predicted gene 4131 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:62,462,488...62,481,155
Ensembl chr14:62,463,414...62,566,921
JBrowse link
G Gm45935 predicted gene, 45935 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:59,380,833...59,440,880 JBrowse link
G Ints6 integrator complex subunit 6 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:62,676,325...62,761,163
Ensembl chr14:62,676,330...62,761,169
JBrowse link
G Itm2b integral membrane protein 2B ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:73,362,226...73,385,289
Ensembl chr14:73,362,226...73,385,289
JBrowse link
G Kcnrg potassium channel regulator ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:61,607,457...61,612,833
Ensembl chr14:61,607,457...61,612,826
JBrowse link
G Kctd12 potassium channel tetramerisation domain containing 12 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:102,976,581...102,982,637
Ensembl chr14:102,976,581...102,982,637
JBrowse link
G Klf12 Kruppel-like factor 12 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:99,866,181...100,285,891
Ensembl chr14:99,870,632...100,284,679
JBrowse link
G Klf5 Kruppel-like factor 5 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:99,298,691...99,313,412
Ensembl chr14:99,298,691...99,315,036
JBrowse link
G Klhl1 kelch-like 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:96,105,265...96,519,034
Ensembl chr14:96,102,736...96,519,102
JBrowse link
G Kpna3 karyopherin (importin) alpha 3 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:61,365,186...61,439,947
Ensembl chr14:61,365,211...61,439,874
JBrowse link
G Krtap21-1 keratin associated protein 21-1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr16:89,403,027...89,403,774
Ensembl chr16:89,403,218...89,403,868
JBrowse link
G Lmo7 LIM domain only 7 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:101,729,928...101,934,708
Ensembl chr14:101,729,957...101,934,710
JBrowse link
G Lpar6 lysophosphatidic acid receptor 6 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:73,237,891...73,240,358
Ensembl chr14:73,237,895...73,243,294
JBrowse link
G Med4 mediator complex subunit 4 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:73,510,049...73,518,545
Ensembl chr14:73,510,025...73,518,849
JBrowse link
G Mir15a microRNA 15a ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:61,632,027...61,632,110
Ensembl chr14:61,632,027...61,632,110
JBrowse link
G Mir16-1 microRNA 16-1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:61,631,880...61,631,972
Ensembl chr14:61,631,880...61,631,972
JBrowse link
G Mir759 microRNA 759 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:79,738,431...79,738,528
Ensembl chr14:79,738,431...79,738,528
JBrowse link
G Mycbp2 MYC binding protein 2, E3 ubiquitin protein ligase ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:103,113,411...103,346,840
Ensembl chr14:103,113,411...103,346,814
JBrowse link
G Mzt1 mitotic spindle organizing protein 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:99,034,544...99,046,453
Ensembl chr14:99,034,544...99,046,134
JBrowse link
G Ndfip2 Nedd4 family interacting protein 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:105,258,591...105,309,298
Ensembl chr14:105,258,573...105,309,298
JBrowse link
G Nek3 NIMA (never in mitosis gene a)-related expressed kinase 3 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr 8:22,128,283...22,166,997
Ensembl chr 8:22,128,283...22,166,435
JBrowse link
G Nek5 NIMA (never in mitosis gene a)-related expressed kinase 5 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr 8:22,073,615...22,125,418
Ensembl chr 8:22,073,616...22,125,053
JBrowse link
G Nudt15 nudix (nucleoside diphosphate linked moiety X)-type motif 15 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:73,518,880...73,548,242
Ensembl chr14:73,518,877...73,548,242
JBrowse link
G Obi1 ORC ubiquitin ligase 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:104,477,534...104,522,712
Ensembl chr14:104,477,536...104,522,645
JBrowse link
G Olfm4 olfactomedin 4 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:80,000,302...80,023,141
Ensembl chr14:79,984,081...80,023,139
JBrowse link
G Pcdh17 protocadherin 17 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:84,443,563...84,537,565
Ensembl chr14:84,443,563...84,539,002
JBrowse link
G Pcdh20 protocadherin 20 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:88,464,743...88,471,396
Ensembl chr14:88,464,743...88,471,396
JBrowse link
G Pcdh8 protocadherin 8 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:79,766,772...79,771,312
Ensembl chr14:79,766,775...79,771,312
JBrowse link
G Pcdh9 protocadherin 9 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:93,013,700...93,892,834
Ensembl chr14:93,013,410...93,890,679
JBrowse link
G Phf11d PHD finger protein 11D ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:59,347,407...59,365,490
Ensembl chr14:59,347,407...59,365,470
JBrowse link
G Pibf1 progesterone immunomodulatory binding factor 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:99,099,424...99,254,899
Ensembl chr14:99,099,424...99,254,493
JBrowse link
G Pou4f1 POU domain, class 4, transcription factor 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:104,461,675...104,468,118
Ensembl chr14:104,461,676...104,467,999
JBrowse link
G Rb1 RB transcriptional corepressor 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:73,192,858...73,325,951
Ensembl chr14:73,183,673...73,325,822
JBrowse link
G Rbm26 RNA binding motif protein 26 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:105,106,751...105,181,039
Ensembl chr14:105,106,751...105,177,327
JBrowse link
G Rcbtb1 regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:59,201,018...59,237,267
Ensembl chr14:59,201,209...59,237,265
JBrowse link
G Rcbtb2 regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:73,138,745...73,184,055
Ensembl chr14:73,123,037...73,207,843
JBrowse link
G Rnaseh2b ribonuclease H2, subunit B ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:62,332,068...62,372,996
Ensembl chr14:62,292,589...62,372,992
JBrowse link
G Scel sciellin ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:103,513,061...103,613,346
Ensembl chr14:103,513,342...103,612,797
JBrowse link
G Serpine3 serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 3 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:62,663,298...62,692,243
Ensembl chr14:62,663,667...62,692,243
JBrowse link
G Setdb2 SET domain, bifurcated 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:59,402,009...59,440,880
Ensembl chr14:59,402,009...59,440,884
JBrowse link
G Slain1 SLAIN motif family, member 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:103,650,228...103,704,907
Ensembl chr14:103,650,228...103,704,907
JBrowse link
G Slitrk1 SLIT and NTRK-like family, member 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:108,909,988...108,914,239
Ensembl chr14:108,908,800...108,914,158
JBrowse link
G Slitrk6 SLIT and NTRK-like family, member 6 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:110,747,338...110,755,204
Ensembl chr14:110,748,580...110,755,149
JBrowse link
G Spry2 sprouty RTK signaling antagonist 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:105,891,947...105,896,819
Ensembl chr14:105,891,947...105,896,819
JBrowse link
G Spryd7 SPRY domain containing 7 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:61,531,851...61,556,886
Ensembl chr14:61,531,993...61,556,886
JBrowse link
G Sucla2 succinate-Coenzyme A ligase, ADP-forming, beta subunit ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:73,552,786...73,596,144
Ensembl chr14:73,525,319...73,596,142
JBrowse link
G Sugt1 SGT1, suppressor of G2 allele of SKP1 (S. cerevisiae) ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:79,587,660...79,630,797
Ensembl chr14:79,587,691...79,635,196
JBrowse link
G Tbc1d4 TBC1 domain family, member 4 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:101,442,360...101,609,281
Ensembl chr14:101,442,360...101,609,191
JBrowse link
G Tdrd3 tudor domain containing 3 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:87,416,178...87,545,508
Ensembl chr14:87,416,639...87,545,504
JBrowse link
G Thsd1 thrombospondin, type I, domain 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr 8:22,220,938...22,262,957
Ensembl chr 8:22,227,313...22,261,334
JBrowse link
G Trim13 tripartite motif-containing 13 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:61,598,226...61,610,287
Ensembl chr14:61,598,247...61,605,946
JBrowse link
G Uchl3 ubiquitin carboxyl-terminal esterase L3 (ubiquitin thiolesterase) ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:101,653,892...101,696,125
Ensembl chr14:101,653,967...101,696,125
JBrowse link
G Vps36 vacuolar protein sorting 36 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr 8:22,192,833...22,220,953
Ensembl chr 8:22,192,809...22,220,843
JBrowse link
G Wdfy2 WD repeat and FYVE domain containing 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:62,837,661...62,961,509
Ensembl chr14:62,837,678...62,961,509
JBrowse link
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 chr11:80,183,869...80,199,755
Ensembl chr11:80,183,851...80,199,757
JBrowse link
craniopharyngioma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apc APC, WNT signaling pathway regulator ISO ClinVar Annotator: match by term: 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 chr18:34,220,297...34,322,190
Ensembl chr18:34,220,924...34,322,552
JBrowse link
G Bmpr1a bone morphogenetic protein receptor, type 1A ISO ClinVar Annotator: match by term: Craniopharyngioma ClinVar PMID:25741868 PMID:28492532 NCBI chr14:34,411,061...34,503,336
Ensembl chr14:34,410,734...34,503,341
JBrowse link
G Braf Braf transforming gene ISO CTD Direct Evidence: marker/mechanism CTD PMID:24413733 NCBI chr 6:39,603,231...39,725,658
Ensembl chr 6:39,603,237...39,725,463
JBrowse link
G Brca1 breast cancer 1, early onset 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 chr11:101,488,761...101,551,955
Ensembl chr11:101,488,764...101,551,955
JBrowse link
G Ctnnb1 catenin (cadherin associated protein), 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 chr 9:120,933,400...120,960,507
Ensembl chr 9:120,929,216...120,960,507
JBrowse link
G Nf1 neurofibromin 1 ISO ClinVar Annotator: match by term: Craniopharyngioma ClinVar PMID:25741868 PMID:28492532 NCBI chr11:79,339,590...79,581,609
Ensembl chr11:79,339,693...79,581,612
JBrowse link
G Pdgfra platelet derived growth factor receptor, alpha polypeptide disease_progression ISO RGD PMID:20190664 RGD:11080971 NCBI chr 5:75,151,322...75,198,206
Ensembl chr 5:75,152,292...75,198,215
JBrowse link
G Phox2b paired-like homeobox 2b ISO ClinVar Annotator: match by term: Craniopharyngioma ClinVar PMID:25741868 NCBI chr 5:67,094,397...67,099,126
Ensembl chr 5:67,094,399...67,099,301
JBrowse link
G Ptch1 patched 1 ISO ClinVar Annotator: match by term: Craniopharyngioma ClinVar PMID:25741868 PMID:28492532 NCBI chr13:63,508,328...63,573,460
Ensembl chr13:63,508,328...63,573,598
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 9:21,616,106...21,704,230
Ensembl chr 9:21,616,169...21,704,230
JBrowse link
G Sufu SUFU negative regulator of hedgehog signaling ISO ClinVar Annotator: match by term: Craniopharyngioma ClinVar PMID:25741868 PMID:28492532 NCBI chr19:46,396,896...46,488,804
Ensembl chr19:46,396,896...46,488,804
JBrowse link
G Tsc1 TSC complex subunit 1 ISO ClinVar Annotator: match by term: Craniopharyngioma ClinVar PMID:22161988 PMID:25741868 PMID:28492532 NCBI chr 2:28,640,993...28,691,172
Ensembl chr 2:28,641,228...28,691,167
JBrowse link
G Tsc2 TSC complex subunit 2 ISO ClinVar Annotator: match by term: Craniopharyngioma ClinVar PMID:25741868 PMID:28492532 NCBI chr17:24,595,816...24,632,676
Ensembl chr17:24,595,816...24,632,630
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 Braf transforming gene ISO OMIM NCBI chr 6:39,603,231...39,725,658
Ensembl chr 6:39,603,237...39,725,463
JBrowse link
G Stk11 serine/threonine kinase 11 ISO ClinVar Annotator: match by term: B-K MOLE SYNDROME ClinVar
OMIM
PMID:10201537 PMID:10208439 PMID:25157968 NCBI chr10:80,115,767...80,130,679
Ensembl chr10:80,115,803...80,130,682
JBrowse link
duodenal gastrinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Men1 multiple endocrine neoplasia 1 ISO associated with Neuroendocrine Tumors; DNA:loss of heterozygosity: : RGD PMID:17135306 RGD:2317341 NCBI chr19:6,334,979...6,340,894
Ensembl chr19:6,334,979...6,340,891
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 chr 2:150,618,111...150,668,240
Ensembl chr 2:150,618,105...150,668,500
JBrowse link
G Acss2 acyl-CoA synthetase short-chain family member 2 treatment ISO RGD PMID:27539851 RGD:13831304 NCBI chr 2:155,518,043...155,562,743
Ensembl chr 2:155,517,948...155,585,724
JBrowse link
G Antxr1 anthrax toxin receptor 1 treatment IMP
ISO
RGD PMID:19622764, PMID:19609240 RGD:9684925, RGD:9684939 NCBI chr 6:87,133,853...87,335,809
Ensembl chr 6:87,133,853...87,335,821
JBrowse link
G Braf Braf transforming gene ISO CTD Direct Evidence: marker/mechanism CTD PMID:29179997 PMID:29438700 NCBI chr 6:39,603,231...39,725,658
Ensembl chr 6:39,603,237...39,725,463
JBrowse link
G Calr calreticulin ISO CTD Direct Evidence: therapeutic CTD PMID:16388313 NCBI chr 8:84,842,088...84,846,931
Ensembl chr 8:84,841,850...84,846,934
JBrowse link
G Ccl20 chemokine (C-C motif) ligand 20 treatment IDA RGD PMID:14500387 RGD:7483600 NCBI chr 1:83,116,766...83,119,167
Ensembl chr 1:83,116,766...83,119,167
JBrowse link
G Ctla4 cytotoxic T-lymphocyte-associated protein 4 treatment ISO RGD PMID:24041689 RGD:7411680 NCBI chr 1:60,909,025...60,915,832
Ensembl chr 1:60,887,000...60,915,832
JBrowse link
G Egr1 early growth response 1 IEP mRNA, protein:increased expression:salivary gland (mouse) RGD PMID:19517020 RGD:5131885 NCBI chr18:34,861,207...34,864,956
Ensembl chr18:34,859,823...34,864,984
JBrowse link
G Esr2 estrogen receptor 2 (beta) severity IMP RGD PMID:20354658 RGD:8694122 NCBI chr12:76,120,419...76,177,259
Ensembl chr12:76,120,419...76,177,259
JBrowse link
G Hgf hepatocyte growth factor IMP RGD PMID:9823327 RGD:8548620 NCBI chr 5:16,553,495...16,619,439
Ensembl chr 5:16,553,495...16,620,152
JBrowse link
G Ifnb1 interferon beta 1, fibroblast ISO CTD Direct Evidence: therapeutic CTD PMID:16417267 NCBI chr 4:88,522,025...88,522,794
Ensembl chr 4:88,522,025...88,522,774
JBrowse link
G Ikbkb inhibitor of kappaB kinase beta ISO RGD PMID:19276165 RGD:7495758 NCBI chr 8:22,659,205...22,706,589
Ensembl chr 8:22,659,212...22,706,589
JBrowse link
G Il18 interleukin 18 treatment IMP RGD PMID:12230493, PMID:17411412 RGD:8655870, RGD:8655901 NCBI chr 9:50,554,700...50,581,841
Ensembl chr 9:50,554,827...50,581,840
JBrowse link
G Il1a interleukin 1 alpha treatment IDA RGD PMID:8061895 RGD:7794735 NCBI chr 2:129,299,609...129,310,186
Ensembl chr 2:129,299,610...129,309,972
JBrowse link
G Il1b interleukin 1 beta ISO RGD PMID:1966551 RGD:7401226 NCBI chr 2:129,364,569...129,371,164
Ensembl chr 2:129,364,570...129,371,139
JBrowse link
G Il2 interleukin 2 ISO RGD PMID:11884028 RGD:8662950 NCBI chr 3:37,120,713...37,125,954
Ensembl chr 3:37,120,523...37,125,959
JBrowse link
G Kdm1a lysine (K)-specific demethylase 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:29438700 NCBI chr 4:136,550,533...136,602,787
Ensembl chr 4:136,550,540...136,602,723
JBrowse link
G Kdm4c lysine (K)-specific demethylase 4C ISO CTD Direct Evidence: marker/mechanism CTD PMID:29438700 NCBI chr 4:74,242,497...74,405,864
Ensembl chr 4:74,242,497...74,405,860
JBrowse link
G Mc1r melanocortin 1 receptor IAGP RGD PMID:20126537 RGD:5687319 NCBI chr 8:123,407,082...123,410,744
Ensembl chr 8:123,407,107...123,410,744
JBrowse link
G Pdcd1 programmed cell death 1 treatment IMP RGD PMID:19208793 RGD:9589070 NCBI chr 1:94,038,305...94,052,553
Ensembl chr 1:94,038,305...94,052,553
JBrowse link
G Pten phosphatase and tensin homolog ISO CTD Direct Evidence: marker/mechanism CTD PMID:29179997 NCBI chr19:32,757,577...32,826,160
Ensembl chr19:32,757,497...32,826,160
JBrowse link
G Pxn paxillin ISO CTD Direct Evidence: marker/mechanism CTD PMID:18492274 NCBI chr 5:115,491,970...115,555,987
Ensembl chr 5:115,506,676...115,555,987
JBrowse link
G Tert telomerase reverse transcriptase treatment IMP RGD PMID:19903903 RGD:11038656 NCBI chr13:73,626,911...73,649,843
Ensembl chr13:73,626,911...73,649,843
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 3:87,796,908...87,816,101
Ensembl chr 3:87,796,951...87,816,101
JBrowse link
G Ntrk1 neurotrophic tyrosine kinase, receptor, type 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 3:87,778,244...87,795,242
Ensembl chr 3:87,778,244...87,795,162
JBrowse link
G Prlr prolactin receptor IEA OMIM:155240 MouseDO NCBI chr15:10,177,238...10,349,190
Ensembl chr15:10,177,238...10,349,180
JBrowse link
G Ret ret proto-oncogene ISO ClinVar Annotator: match by term: Familial medullary thyroid carcinoma
ClinVar Annotator: match by term: Thyroid cancer, familial medullary
ClinVar Annotator: match by term: MEN2A and FMTC
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by null
OMIM
ClinVar
CTD
PMID:2660074 PMID:3078962 PMID:3697657 PMID:7536460 PMID:7595170 PMID:7633441 PMID:7647787 PMID:7784092 PMID:7824936 PMID:7835899 PMID:7845675 PMID:7849720 PMID:7874109 PMID:7881414 PMID:7906417 PMID:7906866 PMID:7907913 PMID:7911697 PMID:7915165 PMID:7915166 PMID:7977365 PMID:8099202 PMID:8103403 PMID:8114940 PMID:8557249 PMID:8570194 PMID:8595427 PMID:8625130 PMID:8675603 PMID:8782503 PMID:8797874 PMID:8807338 PMID:8855832 PMID:8880581 PMID:8909322 PMID:8918855 PMID:9003111 PMID:9090527 PMID:9111992 PMID:9111993 PMID:9146685 PMID:9174404 PMID:9230192 PMID:9242375 PMID:9259198 PMID:9263528 PMID:9384613 PMID:9398735 PMID:9452077 PMID:9467562 PMID:9498388 PMID:9506724 PMID:9620546 PMID:9681850 PMID:9681851 PMID:9681852 PMID:9727738 PMID:9745455 PMID:9760196 PMID:9839497 PMID:9879991 PMID:9950371 PMID:10024437 PMID:10076558 PMID:10235148 PMID:10323403 PMID:10369718 PMID:10445857 PMID:10462620 PMID:10490816 PMID:10549772 PMID:10646792 PMID:10679286 PMID:10777380 PMID:10790203 PMID:10876191 PMID:10982477 PMID:11114642 PMID:11230481 PMID:11238493 PMID:11351254 PMID:11436122 PMID:11454140 PMID:11471675 PMID:11524247 PMID:11562352 PMID:11589684 PMID:11739416 PMID:11900218 PMID:11932300 PMID:11935126 PMID:11939755 PMID:12000816 PMID:12116277 PMID:12150334 PMID:12193298 PMID:12205548 PMID:12409662 PMID:12490841 PMID:12566528 PMID:12604374 PMID:12686527 PMID:12694233 PMID:12864791 PMID:14517954 PMID:14561794 PMID:14566559 PMID:14602786 PMID:14633923 PMID:14715928 PMID:14718397 PMID:15164440 PMID:15184865 PMID:15240641 PMID:15277225 PMID:15281979 PMID:15292360 PMID:15452453 PMID:15531714 PMID:15699703 PMID:15741265 PMID:15753368 PMID:15771139 PMID:15855933 PMID:15858153 PMID:15870131 PMID:16118333 PMID:16314641 PMID:16343097 PMID:16388093 PMID:16441254 PMID:16469774 PMID:16507829 PMID:16532227 PMID:16649977 PMID:16705552 PMID:16707008 PMID:16712668 PMID:16715139 PMID:16736292 PMID:16813623 PMID:16849421 PMID:16865646 PMID:16865647 PMID:16868135 PMID:16928683 PMID:17021738 PMID:17047083 PMID:17097365 PMID:17102091 PMID:17108110 PMID:17178962 PMID:17188172 PMID:17209045 PMID:17384210 PMID:17483988 PMID:17540634 PMID:17605401 PMID:17610518 PMID:17704047 PMID:17848262 PMID:17895320 PMID:18058472 PMID:18062802 PMID:18063059 PMID:18073307 PMID:18209889 PMID:18252215 PMID:18541894 PMID:18805915 PMID:19041016 PMID:19138318 PMID:19169500 PMID:19201392 PMID:19240193 PMID:19255327 PMID:19258401 PMID:19469690 PMID:19472011 PMID:19826964 PMID:19906784 PMID:20065189 PMID:20080836 PMID:20087666 PMID:20103606 PMID:20368568 PMID:20442138 PMID:20497437 PMID:20516206 PMID:20554711 PMID:20739875 PMID:20833330 PMID:20847059 PMID:20979234 PMID:20981092 PMID:21253810 PMID:21254918 PMID:21311890 PMID:21422799 PMID:21422803 PMID:21455200 PMID:21470995 PMID:21479187 PMID:21626080 PMID:21655256 PMID:21678021 PMID:21688339 PMID:21690267 PMID:21765987 PMID:21810974 PMID:21834681 PMID:21986619 PMID:21995290 PMID:22025146 PMID:22068382 PMID:22174939 PMID:22199277 PMID:22233172 PMID:22359510 PMID:22403753 PMID:22584710 PMID:22676047 PMID:22676344 PMID:22703879 PMID:22729463 PMID:22837065 PMID:22865907 PMID:22965292 PMID:22992277 PMID:22995991 PMID:23056499 PMID:23084198 PMID:23210566 PMID:23295303 PMID:23461807 PMID:23527089 PMID:23660872 PMID:23723040 PMID:23745650 PMID:23756355 PMID:24033266 PMID:24064755 PMID:24152999 PMID:24331334 PMID:24336963 PMID:24361808 PMID:24375508 PMID:24449023 PMID:24569963 PMID:24616773 PMID:24617864 PMID:24684035 PMID:24699901 PMID:24716929 PMID:24728327 PMID:24805091 PMID:24845513 PMID:25157968 PMID:25319874 PMID:25374962 PMID:25425582 PMID:25440022 PMID:25628771 PMID:25629635 PMID:25637381 PMID:25694125 PMID:25741868 PMID:25767701 PMID:25810047 PMID:25887804 PMID:25950813 PMID:26046350 PMID:26084817 PMID:26230854 PMID:26247112 PMID:26269449 PMID:26356818 PMID:26395553 PMID:26467025 PMID:26678667 PMID:26920351 PMID:27153395 PMID:27539324 PMID:27673361 PMID:27807060 PMID:27809725 PMID:27884173 PMID:27994876 PMID:28323957 PMID:28492532 PMID:28647780 PMID:28946813 PMID:28951487 PMID:29026273 PMID:29097883 PMID:29386230 PMID:29408964 PMID:29420094 PMID:29549836 PMID:29625052 PMID:29656518 PMID:29684080 PMID:30392857 PMID:30644554 PMID:30763276 PMID:30877234 PMID:30927507 PMID:31510104 NCBI chr 6:118,151,748...118,197,744
Ensembl chr 6:118,151,745...118,197,718
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 ClinVar Annotator: match by term: Hereditary cutaneous melanoma
ClinVar Annotator: match by term: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 3
ClinVar Annotator: match by term: Familial melanoma
ClinVar
OMIM
PMID:5377176 PMID:7652577 PMID:8528263 PMID:8968104 PMID:9228064 PMID:9311594 PMID:9425228 PMID:9536098 PMID:10398427 PMID:11756559 PMID:11828258 PMID:14621993 PMID:15880589 PMID:16201750 PMID:17576681 PMID:19139070 PMID:19690981 PMID:19888216 PMID:20668451 PMID:21520333 PMID:21801156 PMID:22804906 PMID:22932448 PMID:23384855 PMID:23546221 PMID:23718828 PMID:24162924 PMID:24256466 PMID:24321989 PMID:24728327 PMID:24755471 PMID:25157968 PMID:25186627 PMID:25318351 PMID:25416956 PMID:25741868 PMID:25980754 PMID:26252490 PMID:26467025 PMID:26534844 PMID:26580448 PMID:26619011 PMID:26800492 PMID:26976419 PMID:27640074 PMID:27978560 PMID:27997549 PMID:28060055 PMID:28135145 PMID:28166811 PMID:28380455 PMID:28492532 PMID:28726808 PMID:29774366 PMID:29917049 PMID:30093976 PMID:31159747 NCBI chr10:127,063,535...127,067,288
Ensembl chr10:127,063,534...127,067,920
JBrowse link
G Cdkn2a cyclin dependent kinase inhibitor 2A ISO ClinVar Annotator: match by term: Hereditary cutaneous melanoma
ClinVar Annotator: match by term: Familial melanoma
ClinVar Annotator: match by term: Cutaneous malignant melanoma 5
ClinVar Annotator: match by term: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 3
ClinVar Annotator: match by term: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2
ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 2
ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10
ClinVar
OMIM
PMID:2319082 PMID:2677576 PMID:7566978 PMID:7569991 PMID:7614482 PMID:7624155 PMID:7632931 PMID:7640518 PMID:7647780 PMID:7666917 PMID:7670475 PMID:7718873 PMID:7777061 PMID:7780957 PMID:7796400 PMID:7881419 PMID:7882348 PMID:7923152 PMID:7970734 PMID:7972006 PMID:7987387 PMID:7987388 PMID:8012957 PMID:8023167 PMID:8060323 PMID:8153634 PMID:8521414 PMID:8552158 PMID:8552400 PMID:8561866 PMID:8570179 PMID:8573142 PMID:8595405 PMID:8595411 PMID:8603820 PMID:8631588 PMID:8653684 PMID:8668202 PMID:8710906 PMID:8723678 PMID:8727306 PMID:8755727 PMID:8834170 PMID:8841025 PMID:8910511 PMID:9049826 PMID:9053859 PMID:9132280 PMID:9133447 PMID:9166859 PMID:9168184 PMID:9185756 PMID:9212218 PMID:9324288 PMID:9328469 PMID:9366518 PMID:9389568 PMID:9416844 PMID:9425228 PMID:9473234 PMID:9516223 PMID:9536098 PMID:9603434 PMID:9622062 PMID:9660926 PMID:9699728 PMID:9710613 PMID:9751050 PMID:9782052 PMID:9808520 PMID:9823374 PMID:9856796 PMID:9856841 PMID:9916806 PMID:9935245 PMID:10070944 PMID:10229204 PMID:10338331 PMID:10360174 PMID:10389768 PMID:10390011 PMID:10398427 PMID:10400925 PMID:10491434 PMID:10498896 PMID:10508477 PMID:10627132 PMID:10667595 PMID:10719365 PMID:10738302 PMID:10854221 PMID:10861313 PMID:10869234 PMID:10871849 PMID:10874641 PMID:10892805 PMID:10922411 PMID:10951521 PMID:10956390 PMID:11008905 PMID:11075991 PMID:11078762 PMID:11113205 PMID:11136714 PMID:11156381 PMID:11319798 PMID:11358797 PMID:11360201 PMID:11477665 PMID:11500805 PMID:11506491 PMID:11511321 PMID:11518711 PMID:11556834 PMID:11571653 PMID:11579459 PMID:11595726 PMID:11687599 PMID:11726555 PMID:11807902 PMID:11815963 PMID:12001124 PMID:12019208 PMID:12072543 PMID:12175554 PMID:12352668 PMID:12417040 PMID:12417717 PMID:12454511 PMID:12461329 PMID:12485439 PMID:12517341 PMID:12532425 PMID:12538475 PMID:12549483 PMID:12556369 PMID:12606942 PMID:12614625 PMID:12673200 PMID:12700603 PMID:12853981 PMID:12894891 PMID:12950144 PMID:14506702 PMID:14508519 PMID:14584079 PMID:14679123 PMID:14722037 PMID:14735200 PMID:14745721 PMID:15009729 PMID:15075790 PMID:15122588 PMID:15140233 PMID:15140239 PMID:15146471 PMID:15150307 PMID:15173226 PMID:15235029 PMID:15298727 PMID:15304098 PMID:15705881 PMID:15761864 PMID:15856016 PMID:15860862 PMID:15937071 PMID:15945100 PMID:16032697 PMID:16169933 PMID:16199547 PMID:16214921 PMID:16234564 PMID:16307646 PMID:16354195 PMID:16374456 PMID:16397522 PMID:16614725 PMID:16818274 PMID:16893909 PMID:16896043 PMID:16905682 PMID:17001621 PMID:17047042 PMID:17055252 PMID:17167857 PMID:17171691 PMID:17218939 PMID:17255954 PMID:17276542 PMID:17370310 PMID:17397031 PMID:17440112 PMID:17492760 PMID:17576681 PMID:17624602 PMID:17713569 PMID:17890059 PMID:17909018 PMID:17992122 PMID:18023021 PMID:18025365 PMID:18178632 PMID:18335566 PMID:18337833 PMID:18363633 PMID:18519632 PMID:18573309 PMID:18803811 PMID:18813118 PMID:18843795 PMID:18951449 PMID:18981015 PMID:18983535 PMID:19043591 PMID:19141585 PMID:19158841 PMID:19260062 PMID:19260067 PMID:19320745 PMID:19331830 PMID:19360740 PMID:19484507 PMID:19500876 PMID:19523171 PMID:19571771 PMID:19690981 PMID:19712690 PMID:19759551 PMID:19799798 PMID:20093296 PMID:20132244 PMID:20340136 PMID:20340316 PMID:20505745 PMID:20522552 PMID:20526219 PMID:20539244 PMID:20653773 PMID:20876876 PMID:21085193 PMID:21150883 PMID:21325014 PMID:21462282 PMID:21503581 PMID:21507037 PMID:21609436 PMID:21614589 PMID:21619050 PMID:21801156 PMID:21893440 PMID:22292911 PMID:22368299 PMID:22440936 PMID:22447455 PMID:22561520 PMID:22636603 PMID:22703879 PMID:22804906 PMID:22841127 PMID:22911296 PMID:22995991 PMID:23190892 PMID:23371019 PMID:23613284 PMID:23757202 PMID:23897584 PMID:24033266 PMID:24185512 PMID:24336570 PMID:24436120 PMID:24569790 PMID:24659262 PMID:24660985 PMID:24728327 PMID:24733792 PMID:24737347 PMID:24935963 PMID:25064638 PMID:25078331 PMID:25149524 PMID:25157968 PMID:25186627 PMID:25227142 PMID:25294512 PMID:25318351 PMID:25356972 PMID:25370744 PMID:25372287 PMID:25479140 PMID:25503501 PMID:25741868 PMID:25780468 PMID:25787093 PMID:25803691 PMID:25813228 PMID:25846456 PMID:25877891 PMID:25980754 PMID:26104880 PMID:26206375 PMID:26225579 PMID:26295973 PMID:26381259 PMID:26467025 PMID:26474073 PMID:26483394 PMID:26498684 PMID:26542317 PMID:26581427 PMID:26601054 PMID:26619011 PMID:26650189 PMID:26650572 PMID:26658419 PMID:26670561 PMID:26681309 PMID:26775776 PMID:26800492 PMID:26845104 PMID:26876133 PMID:26892650 PMID:26907448 PMID:26976419 PMID:27045317 PMID:27077911 PMID:27083775 PMID:27181379 PMID:27267843 PMID:27287845 PMID:27473757 PMID:27519597 PMID:27568332 PMID:27621404 PMID:27626068 PMID:27701467 PMID:27756164 PMID:27804060 PMID:27960642 PMID:27978560 PMID:28060055 PMID:28135145 PMID:28146043 PMID:28166811 PMID:28188106 PMID:28410231 PMID:28440912 PMID:28454591 PMID:28492532 PMID:28521409 PMID:28592523 PMID:28599463 PMID:28640387 PMID:28717660 PMID:28726808 PMID:28765326 PMID:28767289 PMID:28830827 PMID:28830923 PMID:28866070 PMID:28873162 PMID:28944238 PMID:28979722 PMID:29036293 PMID:29091774 PMID:29263814 PMID:29360161 PMID:29464027 PMID:29506128 PMID:29533785 PMID:29541281 PMID:29543703 PMID:29641532 PMID:29661971 PMID:29758216 PMID:29774366 PMID:29922827 PMID:29983899 PMID:30038052 PMID:30086788 PMID:30207590 PMID:30274933 PMID:30291219 PMID:30303537 PMID:30339520 PMID:30709382 PMID:30742731 PMID:30967399 PMID:31001908 PMID:31382929 PMID:31775759 PMID:31921681 PMID:32113160 PMID:33322357 PMID:109563903 NCBI chr 4:89,274,473...89,294,619
Ensembl chr 4:89,274,471...89,294,653
JBrowse link
G Cdkn2b cyclin dependent kinase inhibitor 2B ISO ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:9622062 PMID:15146471 PMID:16905682 PMID:28492532 NCBI chr 4:89,306,289...89,311,032
Ensembl chr 4:89,306,299...89,311,039
JBrowse link
G Fanca Fanconi anemia, complementation group A ISO ClinVar Annotator: match by term: Cutaneous malignant melanoma 5 ClinVar PMID:28492532 NCBI chr 8:123,266,294...123,318,651
Ensembl chr 8:123,268,300...123,318,576
JBrowse link
G Klc1 kinesin light chain 1 ISO ClinVar Annotator: match by term: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 6 ClinVar PMID:11059748 NCBI chr12:111,758,435...111,807,844
Ensembl chr12:111,758,849...111,807,844
JBrowse link
G Mc1r melanocortin 1 receptor ISO ClinVar Annotator: match by term: Cutaneous malignant melanoma 5
ClinVar Annotator: match by term: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 5
OMIM
ClinVar
PMID:7581459 PMID:8894704 PMID:8944016 PMID:8990005 PMID:9032047 PMID:9302268 PMID:9571181 PMID:9665397 PMID:10403794 PMID:10631149 PMID:10733465 PMID:10816645 PMID:11030758 PMID:11254446 PMID:11487574 PMID:11511307 PMID:11707265 PMID:11933208 PMID:12687585 PMID:12839583 PMID:12851329 PMID:12876664 PMID:14757863 PMID:14961558 PMID:14975928 PMID:15221796 PMID:15957185 PMID:15979202 PMID:15994880 PMID:15998953 PMID:16172233 PMID:16280005 PMID:16309897 PMID:16463023 PMID:16567973 PMID:16595073 PMID:16601669 PMID:16645598 PMID:16809487 PMID:16982779 PMID:16988943 PMID:17072629 PMID:17279550 PMID:17316231 PMID:17434924 PMID:17496785 PMID:17616515 PMID:17952075 PMID:18067130 PMID:18366057 PMID:18402696 PMID:18795926 PMID:18803811 PMID:18839200 PMID:18983535 PMID:19194882 PMID:19269164 PMID:19320745 PMID:19338054 PMID:19493000 PMID:19585506 PMID:19656326 PMID:19710684 PMID:19799798 PMID:19924138 PMID:20043015 PMID:20158590 PMID:20457063 PMID:20629734 PMID:20876876 PMID:21128237 PMID:21672182 PMID:21749400 PMID:22079958 PMID:22095472 PMID:22095742 PMID:22493355 PMID:22547573 PMID:22854540 PMID:22978401 PMID:23312576 PMID:23360207 PMID:23384855 PMID:23522749 PMID:23647022 PMID:23711066 PMID:24033266 PMID:24045876 PMID:24238329 PMID:24335900 PMID:24439955 PMID:24617981 PMID:24982914 PMID:25268584 PMID:25284244 PMID:25631192 PMID:25736238 PMID:25741868 PMID:25794181 PMID:26103569 PMID:26197705 PMID:26389967 PMID:26546047 PMID:26800492 PMID:27084066 PMID:27229376 PMID:27473757 PMID:28166811 PMID:28242083 PMID:28492532 PMID:29340229 PMID:31382929 NCBI chr 8:123,407,082...123,410,744
Ensembl chr 8:123,407,107...123,410,744
JBrowse link
G Mitf melanogenesis associated transcription factor susceptibility ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: MELANOMA AND RENAL CELL CARCINOMA, SUSCEPTIBILITY TO
CTD
ClinVar
OMIM
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 chr 6:97,807,002...98,021,360
Ensembl chr 6:97,807,052...98,021,349
JBrowse link
G Pot1a protection of telomeres 1A 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
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
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 chr 6:25,743,940...25,809,277
Ensembl chr 6:25,743,737...25,809,246
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 8:123,332,713...123,369,518
Ensembl chr 8:123,332,713...123,369,515
JBrowse link
G Tcf25 transcription factor 25 (basic helix-loop-helix) ISO ClinVar Annotator: match by term: Cutaneous malignant melanoma 5 ClinVar PMID:28492532 NCBI chr 8:123,370,772...123,404,174
Ensembl chr 8:123,373,753...123,403,835
JBrowse link
G Tert telomerase reverse transcriptase ISO ClinVar Annotator: match by term: Cutaneous malignant melanoma 9 ClinVar
OMIM
PMID:23348503 NCBI chr13:73,626,911...73,649,843
Ensembl chr13:73,626,911...73,649,843
JBrowse link
G Tspan31 tetraspanin 31 ISO ClinVar Annotator: match by term: Cutaneous Malignant Melanoma, Dominant
ClinVar Annotator: match by term: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 3
ClinVar Annotator: match by term: Familial melanoma
ClinVar Annotator: match by term: Hereditary cutaneous melanoma
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 chr10:127,067,287...127,070,972
Ensembl chr10:127,067,280...127,070,264
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 7:87,424,771...87,493,512
Ensembl chr 7:87,424,771...87,493,512
JBrowse link
G Xrcc3 X-ray repair complementing defective repair in Chinese hamster cells 3 ISO ClinVar Annotator: match by OMIM:613972 ClinVar
OMIM
PMID:11059748 NCBI chr12:111,803,192...111,813,893
Ensembl chr12:111,803,192...111,813,873
JBrowse link
familial meningioma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mn1 meningioma 1 susceptibility ISO ClinVar Annotator: match by term: Meningioma, familial
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:25741868 NCBI chr 5:111,417,300...111,457,030
Ensembl chr 5:111,417,362...111,457,033
JBrowse link
G Nf2 neurofibromin 2 susceptibility ISO ClinVar Annotator: match by term: Meningioma, familial
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:20553997 PMID:25741868 PMID:28492532 NCBI chr11:4,757,639...4,849,544
Ensembl chr11:4,765,845...4,849,536
JBrowse link
G Pdgfb platelet derived growth factor, B polypeptide susceptibility ISO ClinVar Annotator: match by term: Meningioma, familial
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:25741868 NCBI chr15:79,995,865...80,024,614
Ensembl chr15:79,995,874...80,014,977
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 chr19:32,757,577...32,826,160
Ensembl chr19:32,757,497...32,826,160
JBrowse link
G Smarce1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 susceptibility ISO ClinVar Annotator: match by OMIM:607174
ClinVar Annotator: match by term: Meningioma, familial
CTD Direct Evidence: marker/mechanism
ClinVar
OMIM
CTD
PMID:9536098 PMID:16199547 PMID:17576681 PMID:22426308 PMID:23377182 PMID:25169753 PMID:25741868 PMID:28166811 PMID:28492532 NCBI chr11:99,209,047...99,231,017
Ensembl chr11:99,209,047...99,231,017
JBrowse link
G Sufu SUFU negative regulator of hedgehog signaling susceptibility ISO ClinVar Annotator: match by OMIM:607174
ClinVar Annotator: match by term: Meningioma, familial
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:22958902 PMID:25741868 NCBI chr19:46,396,896...46,488,804
Ensembl chr19:46,396,896...46,488,804
JBrowse link
familial retinoblastoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rb1 RB transcriptional corepressor 1 ISO DNA:mutations:promoter, intron, exon:multiple RGD PMID:17096365 RGD:8547984 NCBI chr14:73,192,858...73,325,951
Ensembl chr14:73,183,673...73,325,822
JBrowse link
ganglioneuroblastoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alk anaplastic lymphoma kinase ISO ClinVar Annotator: match by term: Ganglioneuroblastoma ClinVar PMID:21838707 PMID:22072639 PMID:23104988 PMID:25741868 PMID:28492532 NCBI chr17:71,868,988...72,604,702
Ensembl chr17:71,868,972...72,604,627
JBrowse link
G Brca1 breast cancer 1, early onset ISO ClinVar Annotator: match by term: Ganglioneuroblastoma ClinVar PMID:25348012 PMID:25741868 PMID:25971625 PMID:26295337 PMID:26467025 PMID:28492532 PMID:30287823 NCBI chr11:101,488,761...101,551,955
Ensembl chr11:101,488,764...101,551,955
JBrowse link
G Tsc2 TSC complex subunit 2 ISO ClinVar Annotator: match by term: Ganglioneuroblastoma ClinVar PMID:21309039 PMID:21520333 PMID:25741868 PMID:28492532 NCBI chr17:24,595,816...24,632,676
Ensembl chr17:24,595,816...24,632,630
JBrowse link
gastrinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Igf1r insulin-like growth factor I receptor ISO mRNA and protein: increased expression::poor prognosis for high expression RGD PMID:15867218 RGD:7242847 NCBI chr 7:67,952,257...68,233,668
Ensembl chr 7:67,952,827...68,233,668
JBrowse link
G Men1 multiple endocrine neoplasia 1 ISO DNA:mutations: :
CTD Direct Evidence: marker/mechanism
CTD PMID:17961653, PMID:15944766 RGD:2317354 NCBI chr19:6,334,979...6,340,894
Ensembl chr19:6,334,979...6,340,891
JBrowse link
G Met met proto-oncogene severity ISO associated with Zollinger-Ellison Syndrome; mRNA:increased expression:tumor (human) RGD PMID:12114431 RGD:2317605 NCBI chr 6:17,463,349...17,573,980
Ensembl chr 6:17,463,800...17,573,980
JBrowse link
G Mgmt O-6-methylguanine-DNA methyltransferase ISO DNA:hypomethylation:promoter (human) RGD PMID:17278096 RGD:2317340 NCBI chr 7:136,894,463...137,128,193
Ensembl chr 7:136,894,614...137,130,266
JBrowse link
G Slc2a2 solute carrier family 2 (facilitated glucose transporter), member 2 ISO mRNA:decreased expression:pancreatic islet RGD PMID:8421107, PMID:12114701 RGD:2324977, RGD:2324976 NCBI chr 3:28,697,903...28,728,361
Ensembl chr 3:28,697,903...28,731,359
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 antigen ISO CTD Direct Evidence: marker/mechanism CTD PMID:29915428 NCBI chr 3:106,758,861...106,790,149
Ensembl chr 3:106,759,921...106,790,149
JBrowse link
G Cd86 CD86 antigen ISO CTD Direct Evidence: marker/mechanism CTD PMID:29915428 NCBI chr16:36,568,956...36,666,158
Ensembl chr16:36,603,869...36,666,081
JBrowse link
G Ciita class II transactivator ISO CTD Direct Evidence: marker/mechanism CTD PMID:29915428 NCBI chr16:10,480,014...10,531,064
Ensembl chr16:10,480,059...10,528,418
JBrowse link
G Eomes eomesodermin ISO CTD Direct Evidence: marker/mechanism CTD PMID:29915428 NCBI chr 9:118,478,186...118,486,132
Ensembl chr 9:118,478,212...118,486,132
JBrowse link
G Gata3 GATA binding protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29915428 NCBI chr 2:9,857,078...9,887,953
Ensembl chr 2:9,857,078...9,890,034
JBrowse link
G Gfi1 growth factor independent 1 transcription repressor ISO CTD Direct Evidence: marker/mechanism CTD PMID:29915428 NCBI chr 5:107,716,655...107,725,805
Ensembl chr 5:107,716,657...107,726,036
JBrowse link
G Ikzf1 IKAROS family zinc finger 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29915428 NCBI chr11:11,684,962...11,772,930
Ensembl chr11:11,685,003...11,772,926
JBrowse link
G Ikzf3 IKAROS family zinc finger 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29915428 NCBI chr11:98,464,610...98,546,031
Ensembl chr11:98,464,902...98,546,031
JBrowse link
G Il10 interleukin 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29915428 NCBI chr 1:131,019,845...131,024,970
Ensembl chr 1:131,019,845...131,024,974
JBrowse link
G Il2rb interleukin 2 receptor, beta chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:29915428 NCBI chr15:78,479,256...78,511,621
Ensembl chr15:78,479,256...78,495,271
JBrowse link
G Notch2 notch 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29915428 NCBI chr 3:98,013,538...98,150,367
Ensembl chr 3:98,013,527...98,150,361
JBrowse link
G Pou2f2 POU domain, class 2, transcription factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29915428 NCBI chr 7:25,087,350...25,180,797
Ensembl chr 7:25,087,344...25,179,726
JBrowse link
G Ptprc protein tyrosine phosphatase, receptor type, C ISO CTD Direct Evidence: marker/mechanism CTD PMID:29915428 NCBI chr 1:138,062,859...138,175,756
Ensembl chr 1:138,062,861...138,175,708
JBrowse link
G Runx3 runt related transcription factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29915428 NCBI chr 4:135,120,645...135,177,990
Ensembl chr 4:135,120,652...135,177,990
JBrowse link
Glucagonoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Btc betacellulin, epidermal growth factor family member ISO protein:increased expression:pancreas RGD PMID:10724350 RGD:2326087 NCBI chr 5:91,357,261...91,402,994
Ensembl chr 5:91,357,261...91,402,994
JBrowse link
G Men1 multiple endocrine neoplasia 1 IMP
ISO
DNA:deletion:exon
CTD Direct Evidence: marker/mechanism
CTD PMID:17961653, PMID:20138042 RGD:2317288 NCBI chr19:6,334,979...6,340,894
Ensembl chr19:6,334,979...6,340,891
JBrowse link
G Slc2a2 solute carrier family 2 (facilitated glucose transporter), member 2 ISO mRNA:decreased expression:pancreatic islet RGD PMID:12114701, PMID:8421107 RGD:2324976, RGD:2324977 NCBI chr 3:28,697,903...28,728,361
Ensembl chr 3:28,697,903...28,731,359
JBrowse link
G Sstr4 somatostatin receptor 4 ISO RGD PMID:8132773 RGD:2324994 NCBI chr 2:148,395,377...148,396,764
Ensembl chr 2:148,395,344...148,396,767
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 null ClinVar PMID:11953745 PMID:12438263 PMID:15024693 PMID:15338462 NCBI chr 5:67,094,397...67,099,126
Ensembl chr 5:67,094,399...67,099,301
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 chr10:111,472,882...111,498,150
Ensembl chr10:111,473,223...111,498,150
JBrowse link
G Sdhd succinate dehydrogenase complex, subunit D, integral membrane protein 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 9:50,596,340...50,603,849
Ensembl chr 9:50,596,357...50,603,812
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:105,797,615...105,929,372
Ensembl chr  X:105,797,615...105,929,403
JBrowse link
G Cdk4 cyclin-dependent kinase 4 ISO protein:increased expression:pancreas, islet of Langerhans (human) RGD PMID:22761470 RGD:13452384 NCBI chr10:127,063,535...127,067,288
Ensembl chr10:127,063,534...127,067,920
JBrowse link
G Daxx Fas death domain-associated protein disease_progression ISO RGD PMID:21252315 RGD:9587819 NCBI chr17:33,909,404...33,915,590
Ensembl chr17:33,909,414...33,915,590
JBrowse link
G Pcsk1 proprotein convertase subtilisin/kexin type 1 ISO protein:increased expression:insulinoma (rat) RGD PMID:7925129 RGD:2308920 NCBI chr13:75,089,420...75,134,861
Ensembl chr13:75,089,826...75,134,861
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 4:149,176,319...149,307,773
Ensembl chr 4:149,176,319...149,307,693
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 1:171,150,713...171,161,130
Ensembl chr 1:171,150,711...171,161,130
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 chr 6:118,151,748...118,197,744
Ensembl chr 6:118,151,745...118,197,718
JBrowse link
G Sdhb succinate dehydrogenase complex, subunit B, iron sulfur (Ip) 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 4:140,961,271...140,979,198
Ensembl chr 4:140,961,203...140,979,193
JBrowse link
G Sdhc succinate dehydrogenase complex, subunit C, integral membrane protein ISO ClinVar Annotator: match by term: Chromaffinoma ClinVar PMID:12807974 PMID:17468193 PMID:19454582 PMID:23342407 PMID:24033266 PMID:25741868 NCBI chr 1:171,129,157...171,150,640
Ensembl chr 1:171,127,165...171,150,603
JBrowse link
G Sdhd succinate dehydrogenase complex, subunit D, integral membrane protein 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 9:50,596,340...50,603,849
Ensembl chr 9:50,596,357...50,603,812
JBrowse link
Lung Carcinoid Tumors term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Men1 multiple endocrine neoplasia 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 chr19:6,334,979...6,340,894
Ensembl chr19:6,334,979...6,340,891
JBrowse link
lung oat cell carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Akt1 thymoma viral proto-oncogene 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 NCBI chr12:112,653,821...112,674,884
Ensembl chr12:112,653,821...112,674,884
JBrowse link
G B2m beta-2 microglobulin ISO ClinVar Annotator: match by term: Lung oat cell carcinoma ClinVar PMID:26619011 NCBI chr 2:122,147,687...122,153,082
Ensembl chr 2:122,147,686...122,153,083
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 chr 3:32,397,065...32,466,112
Ensembl chr 3:32,397,671...32,468,486
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 chr19:32,757,577...32,826,160
Ensembl chr19:32,757,497...32,826,160
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 chr14:73,192,858...73,325,951
Ensembl chr14:73,183,673...73,325,822
JBrowse link
G Trp53 transformation related protein 53 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 chr11:69,580,348...69,591,873
Ensembl chr11:69,580,359...69,591,873
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 chr11:7,063,433...7,178,506
Ensembl chr11:7,063,489...7,178,506
JBrowse link
G Akt1 thymoma viral proto-oncogene 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 NCBI chr12:112,653,821...112,674,884
Ensembl chr12:112,653,821...112,674,884
JBrowse link
G Ascl1 achaete-scute family bHLH transcription factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26253517 NCBI chr10:87,490,819...87,493,660
Ensembl chr10:87,490,819...87,493,660
JBrowse link
G Avp arginine vasopressin ISO CTD Direct Evidence: marker/mechanism CTD PMID:2832203 NCBI chr 2:130,580,620...130,582,588
Ensembl chr 2:130,580,620...130,582,554
JBrowse link
G B2m beta-2 microglobulin ISO ClinVar Annotator: match by term: Small cell lung cancer ClinVar PMID:26619011 NCBI chr 2:122,147,687...122,153,082
Ensembl chr 2:122,147,686...122,153,083
JBrowse link
G Bcl2 B cell leukemia/lymphoma 2 susceptibility ISO DNA:SNP: :rs2279115(human) RGD PMID:26311051 RGD:13673911 NCBI chr 1:106,538,176...106,714,290
Ensembl chr 1:106,538,178...106,714,274
JBrowse link
G Bclaf1 BCL2-associated transcription factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22941189 NCBI chr10:20,310,512...20,342,644
Ensembl chr10:20,312,469...20,344,613
JBrowse link
G Ccnd1 cyclin D1 disease_progression ISO DNA:snp:exon:c.870G>A (human) RGD PMID:29739297 RGD:13673912 NCBI chr 7:144,929,931...144,939,831
Ensembl chr 7:144,929,931...144,939,925
JBrowse link
G Cdkn1b cyclin-dependent kinase inhibitor 1B ISO protein:increased expression:lung RGD PMID:9500468 RGD:13673920 NCBI chr 6:134,920,401...134,925,525
Ensembl chr 6:134,920,401...134,925,513
JBrowse link
G Cdyl chromodomain protein, Y chromosome-like ISO CTD Direct Evidence: marker/mechanism CTD PMID:22941189 NCBI chr13:35,659,818...35,874,064
Ensembl chr13:35,659,833...35,874,063
JBrowse link
G Ckb creatine kinase, brain ISO CTD Direct Evidence: marker/mechanism CTD PMID:2828370 NCBI chr12:111,669,355...111,672,338
Ensembl chr12:111,669,361...111,672,338
JBrowse link
G Cntnap2 contactin associated protein-like 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22941189 NCBI chr 6:45,060,061...47,301,393
Ensembl chr 6:45,059,357...47,304,213
JBrowse link
G Col22a1 collagen, type XXII, alpha 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22941189 NCBI chr15:71,795,795...72,150,979
Ensembl chr15:71,795,795...72,034,227
JBrowse link
G Col4a2 collagen, type IV, alpha 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22941189 NCBI chr 8:11,312,805...11,449,287
Ensembl chr 8:11,312,805...11,449,287
JBrowse link
G Crebbp CREB binding protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:22941188 NCBI chr16:4,081,334...4,213,957
Ensembl chr16:4,081,328...4,213,997
JBrowse link
G Csf3 colony stimulating factor 3 (granulocyte) ISO CTD Direct Evidence: therapeutic CTD PMID:9093707 NCBI chr11:98,700,183...98,703,631
Ensembl chr11:98,701,263...98,703,629
JBrowse link
G Dip2c disco interacting protein 2 homolog C ISO CTD Direct Evidence: marker/mechanism CTD PMID:22941189 NCBI chr13:9,276,507...9,668,928
Ensembl chr13:9,276,528...9,668,928
JBrowse link
G Dnmt3b DNA methyltransferase 3B susceptibility ISO DNA:SNPs:promoter:-283T >C,-579G>T(human) RGD PMID:15528220 RGD:9589086 NCBI chr 2:153,649,411...153,687,730
Ensembl chr 2:153,649,450...153,687,730
JBrowse link
G E2f1 E2F transcription factor 1 disease_progression
treatment
ISO mRNA, protein:increased expression:lung RGD PMID:24755270, PMID:11313916, PMID:23792570 RGD:13464335, RGD:13464344, RGD:13464337 NCBI chr 2:154,559,400...154,569,892
Ensembl chr 2:154,559,407...154,569,892
JBrowse link
G Egfr epidermal growth factor receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:20837450 NCBI chr11:16,752,203...16,913,907
Ensembl chr11:16,752,203...16,918,158
JBrowse link
G Elavl2 ELAV like RNA binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22941189 NCBI chr 4:91,211,533...91,400,108
Ensembl chr 4:91,250,763...91,400,785
JBrowse link
G Ep300 E1A binding protein p300 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22941188 NCBI chr15:81,586,209...81,652,077
Ensembl chr15:81,585,351...81,652,077
JBrowse link
G Epha7 Eph receptor A7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22941188 NCBI chr 4:28,813,066...28,967,503
Ensembl chr 4:28,813,131...28,967,499
JBrowse link
G Fgfr1 fibroblast growth factor receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22941188 NCBI chr 8:25,518,759...25,575,718
Ensembl chr 8:25,513,654...25,575,718
JBrowse link
G Grik3 glutamate receptor, ionotropic, kainate 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22941189 NCBI chr 4:125,490,259...125,714,173
Ensembl chr 4:125,490,700...125,714,173
JBrowse link
G Grm8 glutamate receptor, metabotropic 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22941189 NCBI chr 6:27,275,121...28,135,146
Ensembl chr 6:27,275,119...28,135,178
JBrowse link
G Id2 inhibitor of DNA binding 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23582323 NCBI chr12:25,093,799...25,096,092
Ensembl chr12:25,093,799...25,097,140
JBrowse link
G Insm1 insulinoma-associated 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23582323 NCBI chr 2:146,221,997...146,225,020
Ensembl chr 2:146,221,921...146,225,020
JBrowse link
G Itgb1 integrin beta 1 (fibronectin receptor beta) disease_progression
treatment
ISO RGD PMID:21063403, PMID:12168902 RGD:13792831, RGD:13792832 NCBI chr 8:128,685,654...128,733,579
Ensembl chr 8:128,685,654...128,733,200
JBrowse link
G Khsrp KH-type splicing regulatory protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:22941189 NCBI chr17:57,021,049...57,031,507
Ensembl chr17:57,021,051...57,031,522
JBrowse link
G Kif21a kinesin family member 21A ISO CTD Direct Evidence: marker/mechanism CTD PMID:22941189 NCBI chr15:90,933,275...91,050,382
Ensembl chr15:90,933,276...91,049,948
JBrowse link
G Kit KIT proto-oncogene receptor tyrosine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:15499612 NCBI chr 5:75,574,987...75,656,722
Ensembl chr 5:75,574,916...75,656,722
JBrowse link
G Kmt2a lysine (K)-specific methyltransferase 2A ISO CTD Direct Evidence: marker/mechanism CTD PMID:22941188 NCBI chr 9:44,803,355...44,881,352
Ensembl chr 9:44,803,355...44,881,296
JBrowse link
G Lama3 laminin, alpha 3 ISO DNA:hyper-methylation:promoter: RGD PMID:12855645 RGD:13793369 NCBI chr18:12,333,417...12,583,013
Ensembl chr18:12,333,819...12,583,013
JBrowse link
G Lamb3 laminin, beta 3 ISO DNA:hyper-methylation:promoter: RGD PMID:12855645 RGD:13793369 NCBI chr 1:193,294,353...193,343,878
Ensembl chr 1:193,207,699...193,343,878
JBrowse link
G Lamc2 laminin, gamma 2 ISO DNA:hyper-methylation:promoter: RGD PMID:12855645 RGD:13793369 NCBI chr 1:153,122,756...153,186,447
Ensembl chr 1:153,122,756...153,186,447
JBrowse link
G Lyrm9 LYR motif containing 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22941189 NCBI chr11:78,826,595...78,843,899
Ensembl chr11:78,826,584...78,846,870
JBrowse link
G Max Max protein ISO DNA:loss of heterozygosity:lung RGD PMID:24362264 RGD:13793386 NCBI chr12:76,937,269...76,962,323
Ensembl chr12:76,937,269...76,962,201
JBrowse link
G Mthfr methylenetetrahydrofolate reductase severity ISO protein:missense mutation:cds:p.A222V (human) RGD PMID:17533396 RGD:4891158 NCBI chr 4:148,039,077...148,059,562
Ensembl chr 4:148,039,077...148,059,551
JBrowse link
G Mtor mechanistic target of rapamycin kinase disease_progression ISO DNA:SNP: :rs2536(human) RGD PMID:28280736 RGD:13825123 NCBI chr 4:148,448,582...148,557,685
Ensembl chr 4:148,448,611...148,557,683
JBrowse link
G Myc myelocytomatosis oncogene disease_progression IMP RGD PMID:28089889 RGD:13793389 NCBI chr15:61,985,341...61,990,361
Ensembl chr15:61,985,391...61,990,374
JBrowse link
G Mycl v-myc avian myelocytomatosis viral oncogene lung carcinoma derived ISO CTD Direct Evidence: therapeutic CTD PMID:22941189 NCBI chr 4:122,995,588...123,002,490
Ensembl chr 4:122,995,652...123,002,485
JBrowse link
G Ndrg1 N-myc downstream regulated gene 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15341671 NCBI chr15:66,929,318...66,969,641
Ensembl chr15:66,929,318...66,969,640
JBrowse link
G 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 chr 3:32,397,065...32,466,112
Ensembl chr 3:32,397,671...32,468,486
JBrowse link
G Pik3r1 phosphoinositide-3-kinase regulatory subunit 1 disease_progression ISO DNA:SNPs: :rs3756668,rs12755(human) RGD PMID:28280736 RGD:13825123 NCBI chr13:101,680,761...101,768,217
Ensembl chr13:101,680,563...101,768,217
JBrowse link
G Plscr4 phospholipid scramblase 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22941189 NCBI chr 9:92,457,372...92,493,513
Ensembl chr 9:92,457,373...92,492,456
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 chr19:32,757,577...32,826,160
Ensembl chr19:32,757,497...32,826,160
JBrowse link
G Ptk2 PTK2 protein tyrosine kinase 2 disease_progression ISO DNA:CNV:: RGD PMID:21800286, PMID:20802517 RGD:13825133, RGD:13825141 NCBI chr15:73,205,102...73,423,820
Ensembl chr15:73,205,102...73,423,280
JBrowse link
G Rarb retinoic acid receptor, beta ISO DNA:methylation: : RGD PMID:29851970 RGD:13825142 NCBI chr14:16,430,839...17,082,331
Ensembl chr14:16,430,839...16,819,156
JBrowse link
G Rassf8 Ras association (RalGDS/AF-6) domain family (N-terminal) member 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22941189 NCBI chr 6:145,746,561...145,821,079
Ensembl chr 6:145,746,748...145,821,079
JBrowse link
G Rb1 RB transcriptional corepressor 1 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: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 chr14:73,192,858...73,325,951
Ensembl chr14:73,183,673...73,325,822
JBrowse link
G Rims2 regulating synaptic membrane exocytosis 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22941189 NCBI chr15:39,198,286...39,684,372
Ensembl chr15:39,198,261...39,684,372
JBrowse link
G Runx1t1 RUNX1 translocation partner 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22941189 NCBI chr 4:13,742,628...13,895,056
Ensembl chr 4:13,743,436...13,893,649
JBrowse link
G Satb2 special AT-rich sequence binding protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22941189 NCBI chr 1:56,793,981...56,981,190
Ensembl chr 1:56,793,981...56,978,650
JBrowse link
G Skp2 S-phase kinase-associated protein 2 ISO mRNA:increased expression:lung: RGD PMID:12107105 RGD:13825152 NCBI chr15:9,111,982...9,155,425
Ensembl chr15:9,111,985...9,155,425
JBrowse link
G Slit2 slit guidance ligand 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22941188 NCBI chr 5:47,981,291...48,307,735
Ensembl chr 5:47,983,138...48,307,733
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 9:21,616,106...21,704,230
Ensembl chr 9:21,616,169...21,704,230
JBrowse link
G Sox2 SRY (sex determining region Y)-box 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22941189 NCBI chr 3:34,649,995...34,652,461
Ensembl chr 3:34,650,405...34,652,461
JBrowse link
G Tmem132d transmembrane protein 132D ISO CTD Direct Evidence: marker/mechanism CTD PMID:22941189 NCBI chr 5:127,783,491...128,433,077
Ensembl chr 5:127,781,630...128,433,077
JBrowse link
G Trp53 transformation related protein 53 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: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 chr11:69,580,348...69,591,873
Ensembl chr11:69,580,359...69,591,873
JBrowse link
G Xpo5 exportin 5 severity ISO DNA:snp, haplotype:3' utr:c.*659A>C (rs11077) (human) RGD PMID:24648983 RGD:11041738 NCBI chr17:46,202,811...46,243,598
Ensembl chr17:46,202,782...46,243,598
JBrowse link
G Zdbf2 zinc finger, DBF-type containing 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22941189 NCBI chr 1:63,200,358...63,314,576
Ensembl chr 1:63,273,265...63,314,576
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 (K)-specific demethylase 4B ISO DNA:amplification:cds (human) RGD PMID:21785329 RGD:9587769 NCBI chr17:56,325,970...56,403,774
Ensembl chr17:56,326,062...56,402,870
JBrowse link
Medullary Carcinomas term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hpgd hydroxyprostaglandin dehydrogenase 15 (NAD) ISO CTD Direct Evidence: therapeutic CTD PMID:11352223 NCBI chr 8:56,294,552...56,321,046
Ensembl chr 8:56,294,585...56,321,043
JBrowse link
G Ret ret proto-oncogene ISO CTD Direct Evidence: marker/mechanism CTD PMID:7915165 NCBI chr 6:118,151,748...118,197,744
Ensembl chr 6:118,151,745...118,197,718
JBrowse link
medulloblastoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apc APC, WNT signaling pathway regulator ISO associated with Adenomatous Polyposis Coli;DNA:mutations: :
CTD Direct Evidence: marker/mechanism
CTD PMID:7661930, PMID:17238184 RGD:6484523 NCBI chr18:34,220,297...34,322,190
Ensembl chr18:34,220,924...34,322,552
JBrowse link
G Arid1a AT rich interactive domain 1A (SWI-like) ISO ClinVar Annotator: match by term: Medulloblastoma ClinVar PMID:26822237 NCBI chr 4:133,679,008...133,756,769
Ensembl chr 4:133,679,008...133,756,769
JBrowse link
G Arid1b AT rich interactive domain 1B (SWI-like) ISO ClinVar Annotator: match by term: Medulloblastoma ClinVar PMID:26822237 NCBI chr17:4,994,297...5,347,656
Ensembl chr17:4,994,332...5,347,656
JBrowse link
G Atoh1 atonal bHLH transcription factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18347096 NCBI chr 6:64,729,125...64,731,245
Ensembl chr 6:64,729,125...64,731,245
JBrowse link
G Bap1 Brca1 associated protein 1 ISO ClinVar Annotator: match by term: Medulloblastoma ClinVar PMID:25741868 PMID:26719535 PMID:28492532 NCBI chr14:31,251,352...31,259,930
Ensembl chr14:31,251,450...31,259,944
JBrowse link
G Brca2 breast cancer 2, early onset ISO
IMP
ClinVar Annotator: match by term: Medulloblastoma, somatic OMIM
ClinVar
PMID:8673090 PMID:9150172 PMID:9667259 PMID:9792861 PMID:10644434 PMID:11149425 PMID:11179017 PMID:11307153 PMID:11802209 PMID:12373604 PMID:14559878 PMID:14647210 PMID:14670928 PMID:15070707 PMID:15340362 PMID:15382066 PMID:15689453 PMID:15800311 PMID:16168118 PMID:16683254 PMID:16825431 PMID:16912212 PMID:17148771 PMID:17513806 PMID:17688236 PMID:17972171 PMID:18042939 PMID:18465347 PMID:18703817 PMID:19016756 PMID:19654294 PMID:19863560 PMID:19949876 PMID:20104584 PMID:20167696 PMID:20694749 PMID:20736950 PMID:20858050 PMID:21120943 PMID:21205087 PMID:21324516 PMID:21709188 PMID:21913181 PMID:22006311 PMID:22009639 PMID:22217648 PMID:22535016 PMID:22666503 PMID:22762150 PMID:22798144 PMID:22923021 PMID:23199084 PMID:23318356 PMID:23415752 PMID:23569316 PMID:23621881 PMID:23767878 PMID:24033266 PMID:24055113 PMID:24156927 PMID:24504028 PMID:24728189 PMID:24830819 PMID:25066507 PMID:25085752 PMID:25136594 PMID:25186627 PMID:25525159 PMID:25637381 PMID:25737278 PMID:25741868 PMID:25802882 PMID:25863477 PMID:26064523 PMID:26187060 PMID:26295337 PMID:26439132 PMID:26467025 PMID:26541979 PMID:26657402 PMID:26681312 PMID:26845104 PMID:27153395 PMID:27257965 PMID:27376475 PMID:27732944 PMID:27741520 PMID:27767231 PMID:27831900 PMID:28008555 PMID:28039656 PMID:28294317 PMID:28324225 PMID:28492532 PMID:28541631 PMID:28616458 PMID:28724667 PMID:28915716 PMID:28973083 PMID:29339979 PMID:29360161 PMID:29371908 PMID:29446198 PMID:29478780 PMID:29492181 PMID:29753700 PMID:29907814 PMID:29909963 PMID:30274973 PMID:30287823 PMID:30350268 PMID:32295079, PMID:17476307 RGD:11038793 NCBI chr 5:150,522,297...150,570,147
Ensembl chr 5:150,522,630...150,570,329
JBrowse link
G Brd2 bromodomain containing 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24231268 NCBI chr17:34,112,019...34,122,814
Ensembl chr17:34,112,023...34,122,634
JBrowse link
G Brd3 bromodomain containing 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24231268 NCBI chr 2:27,445,576...27,507,657
Ensembl chr 2:27,445,579...27,507,662
JBrowse link
G Brd4 bromodomain containing 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24231268 PMID:31594641 NCBI chr17:32,196,272...32,284,743
Ensembl chr17:32,196,274...32,284,722
JBrowse link
G Ccnd1 cyclin D1 IMP RGD PMID:16943274 RGD:13681932 NCBI chr 7:144,929,931...144,939,831
Ensembl chr 7:144,929,931...144,939,925
JBrowse link
G Ccne1 cyclin E1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19270706 NCBI chr 7:38,097,984...38,107,490
Ensembl chr 7:38,097,984...38,107,534
JBrowse link
G Cdk6 cyclin-dependent kinase 6 disease_progression ISO CTD Direct Evidence: marker/mechanism CTD PMID:19270706 PMID:23138228, PMID:16314645 RGD:13702096 NCBI chr 5:3,341,004...3,531,008
Ensembl chr 5:3,341,485...3,531,008
JBrowse link
G Cdk9 cyclin-dependent kinase 9 (CDC2-related kinase) ISO CTD Direct Evidence: marker/mechanism CTD PMID:31594641 NCBI chr 2:32,705,782...32,712,784
Ensembl chr 2:32,705,784...32,713,076
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 chr16:4,081,334...4,213,957
Ensembl chr16:4,081,328...4,213,997
JBrowse link
G Ctnnb1 catenin (cadherin associated protein), beta 1 ISO ClinVar Annotator: match by term: Medulloblastoma
ClinVar Annotator: match by term: Medulloblastoma, somatic
ClinVar
OMIM
PMID:9065402 PMID:9065403 PMID:9294210 PMID:9927029 PMID:10027390 PMID:10192393 PMID:10391090 PMID:10666372 PMID:11351304 PMID:11930117 PMID:11950921 PMID:12124804 PMID:15133491 PMID:19234609 PMID:23265383 PMID:25157968 PMID:25326635 PMID:25326669 PMID:25741868 PMID:26619011 PMID:26822237 PMID:27959697 NCBI chr 9:120,933,400...120,960,507
Ensembl chr 9:120,929,216...120,960,507
JBrowse link
G Ddx3x DEAD box helicase 3, X-linked ISO ClinVar Annotator: match by term: Medulloblastoma ClinVar PMID:26822237 NCBI chr  X:13,280,496...13,293,988
Ensembl chr  X:13,280,970...13,294,052
JBrowse link
G Dicer1 dicer 1, ribonuclease type III ISO ClinVar Annotator: match by term: Medulloblastoma ClinVar PMID:25741868 NCBI chr12:104,687,740...104,751,968
Ensembl chr12:104,687,742...104,751,952
JBrowse link
G Dnmt1 DNA methyltransferase (cytosine-5) 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19155313 NCBI chr 9:20,907,206...20,959,888
Ensembl chr 9:20,907,209...20,959,888
JBrowse link
G Ehmt1 euchromatic histone methyltransferase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19270706 NCBI chr 2:24,790,769...24,919,643
Ensembl chr 2:24,789,928...24,919,614
JBrowse link
G Ep300 E1A binding protein p300 ISO ClinVar Annotator: match by term: Medulloblastoma ClinVar PMID:26619011 NCBI chr15:81,586,209...81,652,077
Ensembl chr15:81,585,351...81,652,077
JBrowse link
G Erbb2 erb-b2 receptor tyrosine kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20168248 NCBI chr11:98,412,484...98,437,716
Ensembl chr11:98,412,470...98,437,716
JBrowse link
G Esr2 estrogen receptor 2 (beta) ISO CTD Direct Evidence: therapeutic CTD PMID:21351254 NCBI chr12:76,120,419...76,177,259
Ensembl chr12:76,120,419...76,177,259
JBrowse link
G Fbxw7 F-box and WD-40 domain protein 7 ISO ClinVar Annotator: match by term: Medulloblastoma ClinVar PMID:26619011 NCBI chr 3:84,814,990...84,979,198
Ensembl chr 3:84,815,268...84,979,198
JBrowse link
G Fgfr1 fibroblast growth factor receptor 1 ISO ClinVar Annotator: match by term: Medulloblastoma
ClinVar Annotator: match by term: Medulloblastoma, somatic
ClinVar PMID:10766980 PMID:23819449 PMID:25705862 PMID:26619011 PMID:26822237 PMID:26942290 PMID:27626068 NCBI chr 8:25,518,759...25,575,718
Ensembl chr 8:25,513,654...25,575,718
JBrowse link
G Fli1 Friend leukemia integration 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19270706 NCBI chr 9:32,422,204...32,543,432
Ensembl chr 9:32,422,204...32,542,861
JBrowse link
G Foxo3 forkhead box O3 ISO ClinVar Annotator: match by term: Medulloblastoma ClinVar PMID:26822237 NCBI chr10:42,181,845...42,276,695
Ensembl chr10:42,181,841...42,276,755
JBrowse link
G Gstm1 glutathione S-transferase, mu 1 ISO DNA:deletion: : RGD PMID:18952980 RGD:5490237 NCBI chr 3:108,012,250...108,017,973
Ensembl chr 3:108,012,255...108,017,973
JBrowse link
G Gstt1 glutathione S-transferase, theta 1 ISO DNA:deletion: : RGD PMID:18952980 RGD:5490237 NCBI chr10:75,783,813...75,798,584
Ensembl chr10:75,783,813...75,798,584
JBrowse link
G Hic1 hypermethylated in cancer 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18347096 NCBI chr11:75,161,377...75,170,255
Ensembl chr11:75,164,565...75,169,519
JBrowse link
G Idh1 isocitrate dehydrogenase 1 (NADP+), soluble ISO ClinVar Annotator: match by term: Medulloblastoma
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 chr 1:65,158,616...65,186,479
Ensembl chr 1:65,158,616...65,186,500
JBrowse link
G Ifng interferon gamma IEA OMIM:155255 MouseDO NCBI chr10:118,441,046...118,445,894
Ensembl chr10:118,441,046...118,445,892
JBrowse link
G Irs2 insulin receptor substrate 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19270706 NCBI chr 8:10,984,681...11,008,929
Ensembl chr 8:10,984,681...11,008,458
JBrowse link
G Kat6a K(lysine) acetyltransferase 6A ISO CTD Direct Evidence: marker/mechanism CTD PMID:19270706 NCBI chr 8:22,859,442...22,943,259
Ensembl chr 8:22,859,535...22,943,259
JBrowse link
G Kdm4b lysine (K)-specific demethylase 4B ISO mRNA:increased expression:brain (human)
CTD Direct Evidence: marker/mechanism
CTD PMID:19270706, PMID:19270706 RGD:9587481 NCBI chr17:56,325,970...56,403,774
Ensembl chr17:56,326,062...56,402,870
JBrowse link
G Kdm4c lysine (K)-specific demethylase 4C ISO mRNA:increased expression:brain (human)
CTD Direct Evidence: marker/mechanism
CTD PMID:19270706, PMID:19270706 RGD:9587481 NCBI chr 4:74,242,497...74,405,864
Ensembl chr 4:74,242,497...74,405,860
JBrowse link
G L3mbtl2 L3MBTL2 polycomb repressive complex 1 subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:19270706 NCBI chr15:81,663,889...81,688,315
Ensembl chr15:81,663,889...81,688,315
JBrowse link
G L3mbtl3 L3MBTL3 histone methyl-lysine binding protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:19270706 NCBI chr10:26,274,461...26,376,036
Ensembl chr10:26,274,468...26,375,971
JBrowse link
G Mpl myeloproliferative leukemia virus oncogene ISO CTD Direct Evidence: marker/mechanism CTD PMID:19270706 NCBI chr 4:118,442,412...118,457,688
Ensembl chr 4:118,442,415...118,457,513
JBrowse link
G Myc myelocytomatosis oncogene ISO CTD Direct Evidence: marker/mechanism CTD PMID:19270706 PMID:31694585 NCBI chr15:61,985,341...61,990,361
Ensembl chr15:61,985,391...61,990,374
JBrowse link
G Mycl v-myc avian myelocytomatosis viral oncogene lung carcinoma derived ISO CTD Direct Evidence: marker/mechanism CTD PMID:19270706 NCBI chr 4:122,995,588...123,002,490
Ensembl chr 4:122,995,652...123,002,485
JBrowse link
G Mycn v-myc avian myelocytomatosis viral related oncogene, neuroblastoma derived ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Medulloblastoma
CTD
ClinVar
PMID:19270706 PMID:26619011 NCBI chr12:12,936,093...12,941,836
Ensembl chr12:12,936,093...12,941,914
JBrowse link
G Nono non-POU-domain-containing, octamer binding protein ISO ClinVar Annotator: match by term: Medulloblastoma ClinVar PMID:26822237 NCBI chr  X:101,429,560...101,448,593
Ensembl chr  X:101,429,318...101,448,591
JBrowse link
G Nras neuroblastoma ras oncogene ISO ClinVar Annotator: match by term: Medulloblastoma
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 3:103,058,285...103,067,914
Ensembl chr 3:103,058,285...103,067,914
JBrowse link
G Otx2 orthodenticle homeobox 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19270706 NCBI chr14:48,656,781...48,667,644
Ensembl chr14:48,657,677...48,673,819
JBrowse link
G Pdgfra platelet derived growth factor receptor, alpha polypeptide severity ISO CTD Direct Evidence: marker/mechanism CTD PMID:19270706, PMID:25576913 RGD:13702904 NCBI chr 5:75,151,322...75,198,206
Ensembl chr 5:75,152,292...75,198,215
JBrowse link
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha ISO ClinVar Annotator: match by term: Medulloblastoma
ClinVar Annotator: match by term: Medulloblastoma, somatic
ClinVar 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 chr 3:32,397,065...32,466,112
Ensembl chr 3:32,397,671...32,468,486
JBrowse link
G Pik3cg phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma ISO CTD Direct Evidence: marker/mechanism CTD PMID:21652733 NCBI chr12:32,173,397...32,208,677
Ensembl chr12:32,173,473...32,208,659
JBrowse link
G Pramex1 PRAME like, X-linked 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16179254 NCBI chr  X:135,612,954...135,627,705
Ensembl chr  X:135,613,002...135,627,705
JBrowse link
G Prkar1a protein kinase, cAMP dependent regulatory, type I, alpha ISO ClinVar Annotator: match by term: Medulloblastoma ClinVar PMID:26822237 PMID:28492532 NCBI chr11:109,649,023...109,669,663
Ensembl chr11:109,649,405...109,669,656
JBrowse link
G Prmt5 protein arginine N-methyltransferase 5 ISO CTD Direct Evidence: therapeutic CTD PMID:31694585 NCBI chr14:54,507,182...54,517,470
Ensembl chr14:54,507,187...54,517,525
JBrowse link
G Ptch1 patched 1 ISO
IEA
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Medulloblastoma
OMIM:155255
CTD
ClinVar
MouseDO
PMID:18347096 PMID:19155313 PMID:19213072 PMID:25741868 PMID:28492532 NCBI chr13:63,508,328...63,573,460
Ensembl chr13:63,508,328...63,573,598
JBrowse link
G Ptch2 patched 2 ISO OMIM NCBI chr 4:117,096,056...117,116,101
Ensembl chr 4:117,096,075...117,116,101
JBrowse link
G Rassf1 Ras association (RalGDS/AF-6) domain family member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21880625 NCBI chr 9:107,551,434...107,562,267
Ensembl chr 9:107,551,555...107,562,267
JBrowse link
G Rb1 RB transcriptional corepressor 1 IGI
ISO
ClinVar Annotator: match by term: Medulloblastoma ClinVar PMID:25741868 PMID:28492532, PMID:10783170 RGD:1302544 NCBI chr14:73,192,858...73,325,951
Ensembl chr14:73,183,673...73,325,822
JBrowse link
G Ret ret proto-oncogene ISO ClinVar Annotator: match by term: Medulloblastoma ClinVar PMID:11436122 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 6:118,151,748...118,197,744
Ensembl chr 6:118,151,745...118,197,718
JBrowse link
G S100a10 S100 calcium binding protein A10 (calpactin) ISO CTD Direct Evidence: marker/mechanism CTD PMID:17579622 NCBI chr 3:93,555,117...93,564,645
Ensembl chr 3:93,555,080...93,564,643
JBrowse link
G S100a4 S100 calcium binding protein A4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17579622 NCBI chr 3:90,603,770...90,606,045
Ensembl chr 3:90,603,771...90,606,045
JBrowse link
G S100a6 S100 calcium binding protein A6 (calcyclin) ISO CTD Direct Evidence: marker/mechanism CTD PMID:17579622 NCBI chr 3:90,612,894...90,614,414
Ensembl chr 3:90,612,882...90,624,181
JBrowse link
G Scg5 secretogranin V ISO CTD Direct Evidence: marker/mechanism CTD PMID:17334394 NCBI chr 2:113,776,313...113,829,091
Ensembl chr 2:113,776,362...113,829,121
JBrowse link
G Scml2 Scm polycomb group protein like 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19270706 NCBI chr  X:161,082,525...161,258,218
Ensembl chr  X:161,082,525...161,258,213
JBrowse link
G Sf3b2 splicing factor 3b, subunit 2 ISO ClinVar Annotator: match by term: Medulloblastoma ClinVar PMID:26619011 NCBI chr19:5,273,921...5,295,457
Ensembl chr19:5,273,932...5,295,455
JBrowse link
G Skp2 S-phase kinase-associated protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19270706 NCBI chr15:9,111,982...9,155,425
Ensembl chr15:9,111,985...9,155,425
JBrowse link
G Smarca4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 ISO ClinVar Annotator: match by term: Medulloblastoma ClinVar PMID:26822237 NCBI chr 9:21,616,106...21,704,230
Ensembl chr 9:21,616,169...21,704,230
JBrowse link
G Smo smoothened, frizzled class receptor ISO
IEA
ClinVar Annotator: match by term: Medulloblastoma
OMIM:155255
ClinVar
MouseDO
PMID:19726788 PMID:22679179 PMID:25759020 NCBI chr 6:29,735,497...29,761,366
Ensembl chr 6:29,735,503...29,761,365
JBrowse link
G Smyd4 SET and MYND domain containing 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19270706 NCBI chr11:75,348,433...75,405,707
Ensembl chr11:75,348,433...75,405,705
JBrowse link
G Stat3 signal transducer and activator of transcription 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19001435 NCBI chr11:100,886,806...100,939,594
Ensembl chr11:100,885,098...100,939,540
JBrowse link
G Strada STE20-related kinase adaptor alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:21652733 NCBI chr11:106,162,974...106,193,634
Ensembl chr11:106,163,330...106,202,168
JBrowse link
G Sufu SUFU negative regulator of hedgehog signaling ISO ClinVar Annotator: match by term: Medulloblastoma, desmoplastic
ClinVar Annotator: match by term: Medulloblastoma with extensive nodularity
ClinVar Annotator: match by term: Medulloblastoma, somatic
ClinVar Annotator: match by OMIM:155255
OMIM
ClinVar
PMID:12068298 PMID:16199547 PMID:19533801 PMID:19833601 PMID:21188540 PMID:22508808 PMID:24728327 PMID:25326637 PMID:25403219 PMID:25741868 PMID:28166811 PMID:28492532 PMID:29641532 PMID:29753700 NCBI chr19:46,396,896...46,488,804
Ensembl chr19:46,396,896...46,488,804
JBrowse link
G Trp53 transformation related protein 53 disease_progression ISO
IGI
protein:increased expression:nucleus:
ClinVar Annotator: match by term: Medulloblastoma, somatic
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:10797439 PMID:10864200 PMID:11051239 PMID:11139324 PMID:11180592 PMID:11370630 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, PMID:11451203, PMID:10783170 RGD:8547823, RGD:1302544 NCBI chr11:69,580,348...69,591,873
Ensembl chr11:69,580,359...69,591,873
JBrowse link
G Tsc2 TSC complex subunit 2 ISO DNA:polymorphism:intron RGD PMID:11603814 RGD:11072879 NCBI chr17:24,595,816...24,632,676
Ensembl chr17:24,595,816...24,632,630
JBrowse link
G Vav1 vav 1 oncogene ISO CTD Direct Evidence: marker/mechanism CTD PMID:19270706 NCBI chr17:57,279,100...57,329,236
Ensembl chr17:57,279,100...57,328,031
JBrowse link
G Wrn Werner syndrome RecQ like helicase ISO ClinVar Annotator: match by term: Medulloblastoma ClinVar PMID:8968742 PMID:9225981 PMID:16673358 PMID:16786514 PMID:24033266 PMID:25182132 PMID:25390333 PMID:25741868 PMID:28492532 NCBI chr 8:33,234,372...33,385,543
Ensembl chr 8:33,234,384...33,385,527
JBrowse link
melanoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G a nonagouti ISO CTD Direct Evidence: marker/mechanism CTD PMID:18488027 PMID:18641652 PMID:21983785 NCBI chr 2:154,950,599...155,051,012
Ensembl chr 2:154,791,402...155,051,012
Ensembl chr 2:154,791,402...155,051,012
JBrowse link
G Abcb5 ATP-binding cassette, sub-family B (MDR/TAP), member 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15899824 NCBI chr12:118,867,486...118,966,434
Ensembl chr12:118,867,824...118,966,421
JBrowse link
G Acer3 alkaline ceramidase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr 7:98,213,808...98,321,208
Ensembl chr 7:98,206,389...98,321,208
JBrowse link
G Adamts20 a disintegrin-like and metallopeptidase (reprolysin type) with thrombospondin type 1 motif, 20 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21559390 NCBI chr15:94,268,314...94,432,074
Ensembl chr15:94,270,163...94,465,418
JBrowse link
G Ager advanced glycosylation end product-specific receptor treatment ISO RGD PMID:15009731 RGD:8695970 NCBI chr17:34,597,460...34,600,937
Ensembl chr17:34,597,862...34,600,936
JBrowse link
G AI837181 expressed sequence AI837181 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr19:5,425,144...5,427,317
Ensembl chr19:5,425,144...5,427,313
JBrowse link
G Akr1b10 aldo-keto reductase family 1, member B10 (aldose reductase) ISO CTD Direct Evidence: marker/mechanism CTD PMID:21499247 NCBI chr 6:34,384,247...34,396,949
Ensembl chr 6:34,384,218...34,396,950
JBrowse link
G Akt1 thymoma viral proto-oncogene 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 NCBI chr12:112,653,821...112,674,884
Ensembl chr12:112,653,821...112,674,884
JBrowse link
G Aldh1a1 aldehyde dehydrogenase family 1, subfamily A1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:31580832 NCBI chr19:20,492,583...20,643,463
Ensembl chr19:20,492,715...20,643,465
JBrowse link
G Aldh1a3 aldehyde dehydrogenase family 1, subfamily A3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:31580832 NCBI chr 7:66,390,892...66,427,477
Ensembl chr 7:66,390,890...66,427,517
JBrowse link
G Amigo2 adhesion molecule with Ig like domain 2 treatment IMP RGD PMID:26553931 RGD:14392781 NCBI chr15:97,244,074...97,247,287
Ensembl chr15:97,244,125...97,247,287
JBrowse link
G Apex1 apurinic/apyrimidinic endonuclease 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16373707 NCBI chr14:50,924,949...50,927,188
Ensembl chr14:50,924,968...50,927,139
JBrowse link
G Arl2 ADP-ribosylation factor-like 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr19:6,134,389...6,141,137
Ensembl chr19:6,134,374...6,141,548
JBrowse link
G Arl5b ADP-ribosylation factor-like 5B ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr 2:15,055,252...15,082,456
Ensembl chr 2:15,049,395...15,082,456
JBrowse link
G Arnt aryl hydrocarbon receptor nuclear translocator ISO CTD Direct Evidence: marker/mechanism CTD PMID:21983785 NCBI chr 3:95,434,367...95,497,240
Ensembl chr 3:95,434,388...95,497,240
JBrowse link
G Arpc2 actin related protein 2/3 complex, subunit 2 ISO protein:increased expression:nevus (human) RGD PMID:19332774 RGD:11049176 NCBI chr 1:74,236,490...74,268,209
Ensembl chr 1:74,236,084...74,268,209
JBrowse link
G Asf1a anti-silencing function 1A histone chaperone ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr10:53,596,961...53,609,225
Ensembl chr10:53,596,757...53,609,225
JBrowse link
G Ass1 argininosuccinate synthetase 1 ISO RGD PMID:12359751 RGD:4140479 NCBI chr 2:31,470,270...31,520,670
Ensembl chr 2:31,470,207...31,520,672
JBrowse link
G Atm ataxia telangiectasia mutated ISO CTD Direct Evidence: marker/mechanism CTD PMID:21983787 NCBI chr 9:53,437,122...53,536,828
Ensembl chr 9:53,439,149...53,536,740
JBrowse link
G Atrx ATRX, chromatin remodeler disease_progression ISO protein:decreased expression:skin: RGD PMID:24468746 RGD:9586028 NCBI chr  X:105,797,615...105,929,372
Ensembl chr  X:105,797,615...105,929,403
JBrowse link
G Aurka aurora kinase A ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr 2:172,356,190...172,370,886
Ensembl chr 2:172,356,190...172,370,535
JBrowse link
G B2m beta-2 microglobulin ISO ClinVar Annotator: match by term: MELANOMA, MALIGNANT, SOMATIC ClinVar PMID:26619011 NCBI chr 2:122,147,687...122,153,082
Ensembl chr 2:122,147,686...122,153,083
JBrowse link
G Batf2 basic leucine zipper transcription factor, ATF-like 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr19:6,164,397...6,172,476
Ensembl chr19:6,140,983...6,172,476
JBrowse link
G Bcl2 B cell leukemia/lymphoma 2 severity ISO protein:increased expression:lymph node (human) RGD PMID:8783649 RGD:11526106 NCBI chr 1:106,538,176...106,714,290
Ensembl chr 1:106,538,178...106,714,274
JBrowse link
G Bcl2l1 BCL2-like 1 disease_progression ISO protein:increased expression:skin, subcutaneous tissue (human) RGD PMID:17384650 RGD:11353861 NCBI chr 2:152,758,732...152,833,803
Ensembl chr 2:152,780,668...152,831,728
JBrowse link
G Bcl2l12 BCL2-like 12 (proline rich) ISO ClinVar Annotator: match by term: MELANOMA, MALIGNANT, SOMATIC ClinVar PMID:26619011 NCBI chr 7:44,991,222...44,997,638
Ensembl chr 7:44,991,222...44,998,712
JBrowse link
G Bmp4 bone morphogenetic protein 4 susceptibility ISO DNA:SNP:cds:6007C>T (rs17563)(human) RGD PMID:19557432 RGD:9068447 NCBI chr14:46,383,525...46,390,669
Ensembl chr14:46,383,520...46,390,669
JBrowse link
G Braf Braf transforming gene treatment
onset
ISO
IEA
ClinVar Annotator: match by term: Melanoma
ClinVar Annotator: match by term: Malignant melanoma, somatic
ClinVar Annotator: match by term: MELANOMA, MALIGNANT, SOMATIC
CTD Direct Evidence: marker/mechanism
DNA:mutations: :
ClinVar
CTD
MouseDO
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: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: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: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, PMID:16424035, PMID:22319199, PMID:25623140 RGD:1580103, RGD:11567267, RGD:11567259 NCBI chr 6:39,603,231...39,725,658
Ensembl chr 6:39,603,237...39,725,463
JBrowse link
G Brca2 breast cancer 2, early onset susceptibility ISO DNA:polymorphism:cds:p.N991D(human)
ClinVar Annotator: match by term: Melanoma
ClinVar PMID:25741868 PMID:28492532, PMID:18024013 RGD:9068469 NCBI chr 5:150,522,297...150,570,147
Ensembl chr 5:150,522,630...150,570,329
JBrowse link
G Brd2 bromodomain containing 2 ISO protein:mRNA:skin: RGD PMID:23950209 RGD:9586346 NCBI chr17:34,112,019...34,122,814
Ensembl chr17:34,112,023...34,122,634
JBrowse link
G Brd4 bromodomain containing 4 ISO protein:mRNA:skin: RGD PMID:23950209 RGD:9586346 NCBI chr17:32,196,272...32,284,743
Ensembl chr17:32,196,274...32,284,722
JBrowse link
G Bzw1 basic leucine zipper and W2 domains 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr 1:58,392,898...58,407,354
Ensembl chr 1:58,392,898...58,407,353
JBrowse link
G C3 complement component 3 treatment IEP RGD PMID:17146472 RGD:7401279 NCBI chr17:57,203,967...57,228,136
Ensembl chr17:57,203,970...57,228,136
JBrowse link
G Capn1 calpain 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr19:5,988,545...6,015,825
Ensembl chr19:5,988,545...6,015,897
JBrowse link
G Casp8 caspase 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18563783 PMID:21983787 NCBI chr 1:58,795,233...58,847,503
Ensembl chr 1:58,795,374...58,847,503
JBrowse link
G Cat catalase ISO
IEP
protein:increased activity:melanocyte:
protein:increased activity:multiple:
RGD PMID:9758419, PMID:15224238 RGD:9479151, RGD:9479742 NCBI chr 2:103,453,904...103,485,153
Ensembl chr 2:103,453,849...103,485,160
JBrowse link
G Cav1 caveolin 1, caveolae protein disease_progression ISO RGD PMID:22134245 RGD:8661767 NCBI chr 6:17,306,335...17,341,328
Ensembl chr 6:17,306,335...17,341,452
JBrowse link
G Cbs cystathionine beta-synthase ISO CTD Direct Evidence: marker/mechanism CTD PMID:25205294 NCBI chr17:31,612,623...31,637,233
Ensembl chr17:31,608,894...31,637,238
JBrowse link
G Ccdc63 coiled-coil domain containing 63 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21499247 NCBI chr 5:122,108,052...122,138,080
Ensembl chr 5:122,108,040...122,140,823
JBrowse link
G Cd40 CD40 antigen treatment IMP
ISO
RGD PMID:22421945, PMID:17327609 RGD:11522740, RGD:11522745 NCBI chr 2:165,055,614...165,071,654
Ensembl chr 2:165,055,627...165,072,948
JBrowse link
G Cdk2 cyclin-dependent kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21559390 NCBI chr10:128,697,938...128,705,051
Ensembl chr10:128,697,939...128,705,031
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 chr10:127,063,535...127,067,288
Ensembl chr10:127,063,534...127,067,920
JBrowse link
G Cdkn1a cyclin-dependent kinase inhibitor 1A (P21) ISO protein:increased expression:skin RGD PMID:22311377, PMID:9194578 RGD:8662421, RGD:8662817 NCBI chr17:29,090,979...29,100,722
Ensembl chr17:29,090,976...29,100,727
JBrowse link
G Cdkn1c cyclin-dependent kinase inhibitor 1C (P57) ISO CTD Direct Evidence: marker/mechanism CTD PMID:17145863 NCBI chr 7:143,458,339...143,461,059
Ensembl chr 7:143,458,339...143,461,050
JBrowse link
G Cdkn2a cyclin dependent kinase inhibitor 2A susceptibility ISO
IMP
DNA:point mutation, insertion:exon
ClinVar Annotator: match by term: Malignant melanoma
ClinVar Annotator: match by term: Melanoma
ClinVar Annotator: match by term: Malignant melanoma, somatic
ClinVar Annotator: match by term: MELANOMA, MALIGNANT, SOMATIC
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
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: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: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, PMID:9168184, PMID:12538879 RGD:1600812, RGD:8552300 NCBI chr 4:89,274,473...89,294,619
Ensembl chr 4:89,274,471...89,294,653
JBrowse link
G Chil1 chitinase-like 1 severity ISO protein:increased secretion:serum (human) RGD PMID:16456816 RGD:4892643 NCBI chr 1:134,182,156...134,190,031
Ensembl chr 1:134,182,176...134,190,181
JBrowse link
G Clns1a chloride channel, nucleotide-sensitive, 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr 7:97,696,657...97,720,793
Ensembl chr 7:97,696,634...97,720,796
JBrowse link
G Clu clusterin ISO CTD Direct Evidence: therapeutic CTD PMID:15955107 NCBI chr14:65,968,483...65,981,548
Ensembl chr14:65,968,483...65,981,547
JBrowse link
G Cnnm1 cyclin M1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16778180 NCBI chr19:43,439,069...43,497,210
Ensembl chr19:43,440,436...43,497,210
JBrowse link
G Col2a1 collagen, type II, alpha 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16778180 NCBI chr15:97,975,602...98,004,724
Ensembl chr15:97,975,602...98,004,695
JBrowse link
G Cp ceruloplasmin ISO CTD Direct Evidence: marker/mechanism CTD PMID:23792645 NCBI chr 3:19,956,933...20,009,750
Ensembl chr 3:19,957,054...20,009,145
JBrowse link
G Cpt1c carnitine palmitoyltransferase 1c ISO CTD Direct Evidence: marker/mechanism CTD PMID:16778180 NCBI chr 7:44,958,483...44,974,880
Ensembl chr 7:44,959,372...44,974,851
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 chr16:4,081,334...4,213,957
Ensembl chr16:4,081,328...4,213,997
JBrowse link
G Crnkl1 crooked neck pre-mRNA splicing factor 1 ISO ClinVar Annotator: match by term: MELANOMA, MALIGNANT, SOMATIC ClinVar PMID:26619011 NCBI chr 2:145,917,482...145,934,700
Ensembl chr 2:145,917,479...145,935,014
JBrowse link
G Crybg1 crystallin beta-gamma domain containing 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22402438 NCBI chr10:43,950,307...44,148,828
Ensembl chr10:43,950,636...44,148,853
JBrowse link
G Csf2 colony stimulating factor 2 (granulocyte-macrophage) ISO CTD Direct Evidence: therapeutic CTD PMID:11061616 NCBI chr11:54,247,270...54,249,899
Ensembl chr11:54,247,271...54,249,667
JBrowse link
G Csf3 colony stimulating factor 3 (granulocyte) ISO CTD Direct Evidence: therapeutic CTD PMID:16120623 PMID:16260693 NCBI chr11:98,700,183...98,703,631
Ensembl chr11:98,701,263...98,703,629
JBrowse link
G Cst6 cystatin E/M ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr19:5,344,705...5,349,574
Ensembl chr19:5,344,705...5,349,574
JBrowse link
G Cth cystathionase (cystathionine gamma-lyase) ISO CTD Direct Evidence: marker/mechanism CTD PMID:25205294 NCBI chr 3:157,894,248...157,925,081
Ensembl chr 3:157,894,248...157,925,077
JBrowse link
G Ctla4 cytotoxic T-lymphocyte-associated protein 4 treatment ISO DNA:SNPs: :-11577G>A,rs3087243(human)
CTD Direct Evidence: therapeutic
CTD PMID:21802280, PMID:23641913 RGD:7411681 NCBI chr 1:60,909,025...60,915,832
Ensembl chr 1:60,887,000...60,915,832
JBrowse link
G Ctnnb1 catenin (cadherin associated protein), 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 chr 9:120,933,400...120,960,507
Ensembl chr 9:120,929,216...120,960,507
JBrowse link
G Cubn cubilin (intrinsic factor-cobalamin receptor) ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr 2:13,276,338...13,491,876
Ensembl chr 2:13,276,338...13,491,813
JBrowse link
G Cul3 cullin 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr 1:80,264,923...80,340,690
Ensembl chr 1:80,264,923...80,340,480
JBrowse link
G Cyp1b1 cytochrome P450, family 1, subfamily b, polypeptide 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17145863 NCBI chr17:79,706,940...79,715,061
Ensembl chr17:79,701,537...79,715,061
JBrowse link
G Dcbld1 discoidin, CUB and LCCL domain containing 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr10:52,233,578...52,321,378
Ensembl chr10:52,233,619...52,321,378
JBrowse link
G Dcc deleted in colorectal carcinoma ISO CTD Direct Evidence: marker/mechanism CTD PMID:22842228 NCBI chr18:71,253,613...72,351,228
Ensembl chr18:71,253,634...72,351,069
JBrowse link
G Ddit4l DNA-damage-inducible transcript 4-like ISO CTD Direct Evidence: marker/mechanism CTD PMID:16778180 NCBI chr 3:137,623,672...137,628,332
Ensembl chr 3:137,621,612...137,628,333
JBrowse link
G Dlg2 discs large MAGUK scaffold protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr 7:90,476,188...92,449,246
Ensembl chr 7:90,476,672...92,449,247
JBrowse link
G Dnajc1 DnaJ heat shock protein family (Hsp40) member C1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr 2:18,205,634...18,394,099
Ensembl chr 2:18,195,654...18,392,830
JBrowse link
G Dnajc15 DnaJ heat shock protein family (Hsp40) member C15 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17145863 NCBI chr14:77,826,217...77,874,917
Ensembl chr14:77,820,681...77,875,125
JBrowse link
G Drap1 Dr1 associated protein 1 (negative cofactor 2 alpha) ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr19:5,422,804...5,424,979
Ensembl chr19:5,422,805...5,424,979
JBrowse link
G Dsc1 desmocollin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22197931 NCBI chr18:20,083,471...20,114,773
Ensembl chr18:20,084,184...20,114,871
JBrowse link
G E2f1 E2F transcription factor 1 ISO CTD Direct Evidence: marker/mechanism|therapeutic CTD PMID:15574415 PMID:16827129 NCBI chr 2:154,559,400...154,569,892
Ensembl chr 2:154,559,407...154,569,892
JBrowse link
G Echdc1 enoyl Coenzyme A hydratase domain containing 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr10:29,298,144...29,346,661
Ensembl chr10:29,313,166...29,347,469
JBrowse link
G Eda ectodysplasin-A ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr  X:99,975,606...100,400,760
Ensembl chr  X:99,975,606...100,400,762
JBrowse link
G Ehmt2 euchromatic histone lysine N-methyltransferase 2 disease_progression ISO RGD PMID:24658378 RGD:9590069 NCBI chr17:34,898,463...34,914,073
Ensembl chr17:34,898,469...34,914,052
JBrowse link
G Eif1ad eukaryotic translation initiation factor 1A domain containing ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr19:5,366,813...5,371,518
Ensembl chr19:5,366,741...5,371,526
JBrowse link
G Eln elastin disease_progression ISO associated with Nevus, Pigmented; RGD PMID:11979070, PMID:19032378 RGD:9585752, RGD:9585768 NCBI chr 5:134,702,595...134,747,368
Ensembl chr 5:134,702,593...134,747,323
JBrowse link
G Eng endoglin treatment IMP RGD PMID:23076642 RGD:7248785 NCBI chr 2:32,646,595...32,682,669
Ensembl chr 2:32,646,595...32,682,669
JBrowse link
G Ep300 E1A binding protein p300 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23698071 NCBI chr15:81,586,209...81,652,077
Ensembl chr15:81,585,351...81,652,077
JBrowse link
G Epb41 erythrocyte membrane protein band 4.1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17145863 NCBI chr 4:131,923,413...132,075,346
Ensembl chr 4:131,923,413...132,075,321
JBrowse link
G Ephx3 epoxide hydrolase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16778180 NCBI chr17:32,183,770...32,189,470
Ensembl chr17:32,183,770...32,189,549
JBrowse link
G Epo erythropoietin ISO CTD Direct Evidence: marker/mechanism CTD PMID:15743794 NCBI chr 5:137,483,020...137,485,816
Ensembl chr 5:137,483,020...137,533,242
JBrowse link
G Epor erythropoietin receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:21860424 NCBI chr 9:21,958,897...21,963,576
Ensembl chr 9:21,958,897...21,963,506
JBrowse link
G Erbb2 erb-b2 receptor tyrosine kinase 2 ISO ClinVar Annotator: match by term: MELANOMA, MALIGNANT, SOMATIC ClinVar PMID:18413839 PMID:22046346 PMID:23220880 PMID:25157968 PMID:26619011 NCBI chr11:98,412,484...98,437,716
Ensembl chr11:98,412,470...98,437,716
JBrowse link
G Erbb4 erb-b2 receptor tyrosine kinase 4 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Melanoma
CTD
ClinVar
PMID:19718025 NCBI chr 1:68,031,884...69,108,576
Ensembl chr 1:68,032,186...69,108,059
JBrowse link
G Ercc1 excision repair cross-complementing rodent repair deficiency, complementation group 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21722328 NCBI chr 7:19,344,067...19,356,524
Ensembl chr 7:19,344,778...19,356,524
JBrowse link
G Ercc2 excision repair cross-complementing rodent repair deficiency, complementation group 2 disease_progression ISO DNA:polymorphism:exon:p.K751Q(human) RGD PMID:21390047 RGD:12880434 NCBI chr 7:19,382,017...19,395,694
Ensembl chr 7:19,382,010...19,395,694
JBrowse link
G Ercc5 excision repair cross-complementing rodent repair deficiency, complementation group 5 disease_progression ISO DNA:polymorphism:exon:p.D1104H(human) RGD PMID:21390047 RGD:12880434 NCBI chr 1:44,146,948...44,181,260
Ensembl chr 1:44,147,744...44,181,260
JBrowse link
G Esr1 estrogen receptor 1 (alpha) severity ISO RGD PMID:19153340 RGD:8553064 NCBI chr10:4,611,989...5,005,633
Ensembl chr10:4,611,593...5,005,614
JBrowse link
G Esr2 estrogen receptor 2 (beta) severity ISO RGD PMID:19153340 RGD:8553064 NCBI chr12:76,120,419...76,177,259
Ensembl chr12:76,120,419...76,177,259
JBrowse link
G F2rl1 coagulation factor II (thrombin) receptor-like 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17145863 NCBI chr13:95,511,718...95,525,240
Ensembl chr13:95,511,732...95,525,227
JBrowse link
G Fam160b1 family with sequence similarity 160, member B1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr19:57,360,923...57,389,594
Ensembl chr19:57,360,680...57,389,586
JBrowse link
G Fas Fas (TNF receptor superfamily member 6) susceptibility ISO DNA:polymorphisms:promoter:-1377A>G,-670A>G(human) RGD PMID:16538172 RGD:12903985 NCBI chr19:34,290,647...34,327,775
Ensembl chr19:34,290,666...34,327,772
JBrowse link
G Fasl Fas ligand (TNF superfamily, member 6) susceptibility ISO CTD Direct Evidence: therapeutic
DNA:polymorphisms,haplotype:promoter:-844C>T,IVS2nt-124A>G(human)
CTD PMID:16487513, PMID:16538172 RGD:12903985 NCBI chr 1:161,780,691...161,788,495
Ensembl chr 1:161,780,689...161,788,495
JBrowse link
G Fasn fatty acid synthase ISO CTD Direct Evidence: marker/mechanism CTD PMID:18770866 PMID:20805790 PMID:21213365 NCBI chr11:120,805,958...120,825,166
Ensembl chr11:120,805,846...120,824,547
JBrowse link
G Fat4 FAT atypical cadherin 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22197931 NCBI chr 3:38,884,667...39,011,992
Ensembl chr 3:38,886,940...39,011,985
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 2:125,300,594...125,506,485
Ensembl chr 2:125,300,594...125,507,993
JBrowse link
G Fbxw7 F-box and WD-40 domain protein 7 ISO ClinVar Annotator: match by term: MELANOMA, MALIGNANT, SOMATIC ClinVar PMID:25741868 PMID:26619011 NCBI chr 3:84,814,990...84,979,198
Ensembl chr 3:84,815,268...84,979,198
JBrowse link
G Flt1 FMS-like tyrosine kinase 1 ISO protein:increased expression:serum:
CTD Direct Evidence: marker/mechanism
CTD PMID:19718025, PMID:21730877 RGD:8552360 NCBI chr 5:147,561,604...147,726,438
Ensembl chr 5:147,561,604...147,726,011
JBrowse link
G Fto fat mass and obesity associated ISO CTD Direct Evidence: marker/mechanism CTD PMID:23455637 NCBI chr 8:91,313,367...91,668,433
Ensembl chr 8:91,313,525...91,668,439
JBrowse link
G Gab2 growth factor receptor bound protein 2-associated protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr 7:97,081,751...97,308,951
Ensembl chr 7:97,081,586...97,308,946
JBrowse link
G Gdf15 growth differentiation factor 15 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17145863 NCBI chr 8:70,629,393...70,632,470
Ensembl chr 8:70,629,393...70,632,456
JBrowse link
G Ggt1 gamma-glutamyltransferase 1 disease_progression ISO RGD PMID:6120756 RGD:14747014 NCBI chr10:75,561,076...75,586,193
Ensembl chr10:75,561,604...75,586,200
JBrowse link
G Glo1 glyoxalase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20093988 NCBI chr17:30,592,861...30,612,659
Ensembl chr17:30,584,936...30,626,871
JBrowse link
G Gna11 guanine nucleotide binding protein, alpha 11 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: MELANOMA, MALIGNANT, SOMATIC
ClinVar Annotator: match by term: Malignant melanoma, somatic
CTD
ClinVar
PMID:1328859 PMID:2549426 PMID:21083380 PMID:21444680 PMID:22733540 PMID:22808163 PMID:23432625 PMID:24141786 PMID:25157968 PMID:26619011 NCBI chr10:81,528,724...81,545,162
Ensembl chr10:81,528,724...81,545,190
JBrowse link
G Gnaq guanine nucleotide binding protein, alpha q polypeptide 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 chr19:16,132,684...16,388,520
Ensembl chr19:16,132,831...16,387,463
JBrowse link
G Gnas GNAS (guanine nucleotide binding protein, alpha stimulating) 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 chr 2:174,284,320...174,346,744
Ensembl chr 2:174,284,320...174,346,744
JBrowse link
G Gopc golgi associated PDZ and coiled-coil motif containing ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr10:52,337,024...52,382,124
Ensembl chr10:52,335,850...52,382,124
JBrowse link
G Gpam glycerol-3-phosphate acyltransferase, mitochondrial ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr19:55,067,635...55,127,319
Ensembl chr19:55,067,268...55,127,238
JBrowse link
G Gper1 G protein-coupled estrogen receptor 1 severity ISO protein:increased expression:skin (human) RGD PMID:28467693 RGD:39939016 NCBI chr 5:139,423,150...139,427,800
Ensembl chr 5:139,423,151...139,427,800
JBrowse link
G Gpha2 glycoprotein hormone alpha 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr19:6,226,401...6,227,768
Ensembl chr19:6,226,380...6,227,768
JBrowse link
G Grin2a glutamate receptor, ionotropic, NMDA2A (epsilon 1) ISO CTD Direct Evidence: marker/mechanism CTD PMID:21499247 NCBI chr16:9,567,901...9,996,083
Ensembl chr16:9,567,898...9,995,560
JBrowse link
G Grm3 glutamate receptor, metabotropic 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21946352 PMID:22842228 NCBI chr 5:9,485,236...9,725,352
Ensembl chr 5:9,485,541...9,725,170
JBrowse link
G Gstp1 glutathione S-transferase, pi 1 ISO DNA:polymorphism:cds:p.I50V(human) RGD PMID:23568549 RGD:8547833 NCBI chr19:4,035,411...4,037,912
Ensembl chr19:4,035,407...4,037,985
JBrowse link
G H2-Aa histocompatibility 2, class II antigen A, alpha susceptibility ISO DNA:polymorphisms: : RGD PMID:16433795 RGD:8547661 NCBI chr17:34,282,744...34,287,823
Ensembl chr17:34,282,744...34,287,823
JBrowse link
G Hdac2 histone deacetylase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr10:36,974,297...37,001,889
Ensembl chr10:36,974,544...37,001,889
JBrowse link
G Hdac3 histone deacetylase 3 IMP associated with Anaphylaxis; RGD PMID:24619412 RGD:9590165 NCBI chr18:37,936,971...37,955,015
Ensembl chr18:37,935,844...37,955,016
JBrowse link
G Hdac6 histone deacetylase 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr  X:7,930,116...7,948,047
Ensembl chr  X:7,930,120...7,947,889
JBrowse link
G Hikeshi heat shock protein nuclear import factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr 7:89,918,685...89,941,223
Ensembl chr 7:89,917,529...89,941,204
JBrowse link
G Hoxa9 homeobox A9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16778180 NCBI chr 6:52,223,097...52,227,370
Ensembl chr 6:52,223,100...52,231,089
JBrowse link
G Hoxb13 homeobox B13 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17145863 NCBI chr11:96,194,316...96,196,610
Ensembl chr11:96,194,316...96,197,447
JBrowse link
G Hoxd12 homeobox D12 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16778180 NCBI chr 2:74,675,013...74,677,705
Ensembl chr 2:74,675,013...74,677,705
JBrowse link
G Hpse heparanase ISO CTD Direct Evidence: marker/mechanism CTD PMID:22240343 NCBI chr 5:100,679,484...100,719,716
Ensembl chr 5:100,679,484...100,719,716
JBrowse link
G Hras Harvey rat sarcoma virus oncogene ISO ClinVar Annotator: match by term: MELANOMA, MALIGNANT, SOMATIC
ClinVar Annotator: match by term: Malignant melanoma
ClinVar Annotator: match by term: Malignant melanoma, somatic
ClinVar Annotator: match by term: Melanoma
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
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 7:141,189,934...141,194,019
Ensembl chr 7:141,189,105...141,194,005
JBrowse link
G Hs3st5 heparan sulfate (glucosamine) 3-O-sulfotransferase 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr10:36,506,590...36,834,397
Ensembl chr10:36,506,814...36,834,397
JBrowse link
G Hspa1a heat shock protein 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:26984758 NCBI chr17:34,969,359...34,972,156
Ensembl chr17:34,969,190...34,972,156
JBrowse link
G Icam1 intercellular adhesion molecule 1 disease_progression ISO RGD PMID:8599446 RGD:8547584 NCBI chr 9:21,015,940...21,028,814
Ensembl chr 9:21,015,985...21,028,817
JBrowse link
G Idh1 isocitrate dehydrogenase 1 (NADP+), soluble 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 chr 1:65,158,616...65,186,479
Ensembl chr 1:65,158,616...65,186,500
JBrowse link
G Ifna interferon alpha EXP CTD Direct Evidence: therapeutic CTD PMID:15304625
G Ifnb1 interferon beta 1, fibroblast ISO CTD Direct Evidence: therapeutic CTD PMID:16928243 PMID:21846298 NCBI chr 4:88,522,025...88,522,794
Ensembl chr 4:88,522,025...88,522,774
JBrowse link
G Ifng interferon gamma ISO CTD Direct Evidence: therapeutic CTD PMID:9794839 NCBI chr10:118,441,046...118,445,894
Ensembl chr10:118,441,046...118,445,892
JBrowse link
G Il17d interleukin 17D severity IMP RGD PMID:31244826 RGD:40903065 NCBI chr14:57,524,829...57,543,166
Ensembl chr14:57,524,777...57,543,166
JBrowse link
G Il1rapl1 interleukin 1 receptor accessory protein-like 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr  X:86,740,937...88,115,948
Ensembl chr  X:86,740,870...88,115,645
JBrowse link
G Il1rn interleukin 1 receptor antagonist ISO mouse model treated with human protein RGD PMID:8168095 RGD:6909140 NCBI chr 2:24,336,860...24,351,491
Ensembl chr 2:24,336,853...24,351,494
JBrowse link
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 3:37,120,713...37,125,954
Ensembl chr 3:37,120,523...37,125,959
JBrowse link
G Incenp inner centromere protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr19:9,872,295...9,899,489
Ensembl chr19:9,872,296...9,899,551
JBrowse link
G Iqch IQ motif containing H ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr 9:63,421,421...63,602,526
Ensembl chr 9:63,421,455...63,602,493
JBrowse link
G