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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:neuroectodermal tumor
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Accession:DOID:171 term browser browse the term
Definition:Malignant neoplasms arising in the neuroectoderm, the portion of the ectoderm of the early embryo that gives rise to the central and peripheral nervous systems, including some glial cells.
Synonyms:exact_synonym: neuroectodermal tumors;   primitive Neuroectodermal neoplasm
 primary_id: MESH:D017599;   RDO:0005291
For additional species annotation, visit the Alliance of Genome Resources.



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neuroectodermal tumor term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myc myelocytomatosis oncogene ISO CTD Direct Evidence: marker/mechanism CTD PMID:8761367 NCBI chr15:61,857,190...61,862,210
Ensembl chr15:61,857,240...61,862,223
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 4:117,783,105...117,787,993
Ensembl chr 4:117,783,359...117,786,960
JBrowse link
G Bdnf brain derived neurotrophic factor ISO mRNA:increased expression:peripheral nerve: RGD PMID:19937367 RGD:8655552 NCBI chr 2:109,505,045...109,557,388
Ensembl chr 2:109,505,045...109,557,352
JBrowse link
G Cav1 caveolin 1, caveolae protein ISO RGD PMID:20881564 RGD:8661782 NCBI chr 6:17,306,287...17,341,327
Ensembl chr 6:17,306,334...17,341,451
JBrowse link
G Cdkn1a cyclin-dependent kinase inhibitor 1A (P21) ISO mRNA,protein:decreased expression:myelinated nerve: RGD PMID:20600642 RGD:8661792 NCBI chr17:29,309,953...29,319,696
Ensembl chr17:29,309,950...29,319,701
JBrowse link
G Cyp2e1 cytochrome P450, family 2, subfamily e, polypeptide 1 ISO DNA:snp:promoter:c.-1053C>T (human) RGD PMID:12540498 RGD:1358568 NCBI chr 7:140,343,732...140,354,903
Ensembl chr 7:140,343,652...140,354,900
JBrowse link
G 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 7:19,115,942...19,129,619
Ensembl chr 7:19,115,935...19,129,619
JBrowse link
G Fgfr1 fibroblast growth factor receptor 1 disease_progression ISO RGD PMID:15354013 RGD:11567268 NCBI chr 8:26,008,775...26,065,734
Ensembl chr 8:26,003,670...26,065,734
JBrowse link
G Gdnf glial cell line derived neurotrophic factor ISO mRNA:increased expression:peripheral nerve: RGD PMID:19937367 RGD:8655552 NCBI chr15:7,839,529...7,867,061
Ensembl chr15:7,840,327...7,867,056
JBrowse link
G Igf1 insulin-like growth factor 1 susceptibility ISO protein:increased expression:serum: RGD PMID:21788435 RGD:8548833 NCBI chr10:87,694,127...87,772,909
Ensembl chr10:87,694,127...87,772,904
JBrowse link
G Igfbp3 insulin-like growth factor binding protein 3 susceptibility ISO protein:increased expression:serum: RGD PMID:21788435 RGD:8548833 NCBI chr11:7,156,086...7,165,498
Ensembl chr11:7,156,086...7,163,923
JBrowse link
G Nf2 neurofibromin 2 ISO protein:decreased expression:myelinated nerve: RGD PMID:20600642 RGD:8661792 NCBI chr11:4,715,845...4,799,544
Ensembl chr11:4,715,845...4,799,536
JBrowse link
G Vegfa vascular endothelial growth factor A ISO RGD PMID:14660915 RGD:8547959 NCBI chr17:46,327,919...46,343,303
Ensembl chr17:46,327,919...46,343,295
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 7:135,291,513...135,318,286
Ensembl chr 7:135,291,513...135,318,090
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 4:88,440,262...88,441,031
Ensembl chr 4:88,440,262...88,441,011
JBrowse link
astroblastoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mir542 microRNA 542 disease_progression ISO RGD PMID:26286747 RGD:13782052 NCBI chr  X:52,138,280...52,138,364
Ensembl chr  X:52,138,280...52,138,364
JBrowse link
G Pik3r1 phosphoinositide-3-kinase regulatory subunit 1 severity ISO RGD PMID:26956052 PMID:26286747 RGD:11343921, RGD:13782052 NCBI chr13:101,817,269...101,904,725
Ensembl chr13:101,817,071...101,904,725
JBrowse link
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 5:90,608,729...90,624,461
Ensembl chr 5:90,608,756...90,624,461
JBrowse link
G Eno2 enolase 2, gamma neuronal ISO RGD PMID:17345775 RGD:2293739 NCBI chr 6:124,737,016...124,746,636
Ensembl chr 6:124,737,016...124,746,636
JBrowse link
G Men1 multiple endocrine neoplasia 1 ISO DNA:loss of heterozygosity:lung:PYGM,D11S449,D11S906(human) RGD PMID:16465412 RGD:2317351 NCBI chr19:6,385,009...6,390,924
Ensembl chr19:6,385,009...6,390,921
JBrowse link
G Mgmt O-6-methylguanine-DNA methyltransferase ISO DNA:hypermethylation:promoter (human) RGD PMID:12584572 RGD:2317635 NCBI chr 7:136,496,192...136,729,922
Ensembl chr 7:136,496,343...136,731,995
JBrowse link
G Mir10a microRNA 10a ISO CTD Direct Evidence: marker/mechanism CTD PMID:25105010 NCBI chr11:96,207,991...96,208,100
Ensembl chr11:96,207,991...96,208,100
JBrowse link
G Mir127 microRNA 127 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25105010 NCBI chr12:109,559,280...109,559,349
Ensembl chr12:109,559,280...109,559,349
JBrowse link
G Mir136 microRNA 136 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25105010 NCBI chr12:109,561,761...109,561,822
Ensembl chr12:109,561,761...109,561,822
JBrowse link
G Mir146 microRNA 146 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25105010 NCBI chr11:43,265,224...43,265,288
Ensembl chr11:43,265,224...43,265,288
JBrowse link
G Mir154 microRNA 154 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25105010 NCBI chr12:109,704,867...109,704,932
Ensembl chr12:109,704,867...109,704,932
JBrowse link
G Mir155 microRNA 155 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25105010 NCBI chr16:84,511,028...84,511,092
Ensembl chr16:84,511,028...84,511,092
JBrowse link
G Mir193a microRNA 193a ISO CTD Direct Evidence: marker/mechanism CTD PMID:25105010 NCBI chr11:79,602,795...79,602,860
Ensembl chr11:79,602,795...79,602,860
JBrowse link
G Mir222 microRNA 222 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25105010 NCBI chr  X:19,013,132...19,013,210
Ensembl chr  X:19,013,132...19,013,210
JBrowse link
G Mir224 microRNA 224 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25105010 NCBI chr  X:71,304,637...71,304,718
Ensembl chr  X:71,304,637...71,304,718
JBrowse link
G Mir302d microRNA 302d ISO CTD Direct Evidence: marker/mechanism CTD PMID:25105010 NCBI chr 3:127,339,273...127,339,338
Ensembl chr 3:127,339,273...127,339,338
JBrowse link
G Mir30a microRNA 30a ISO CTD Direct Evidence: marker/mechanism CTD PMID:25105010 NCBI chr 1:23,311,350...23,311,420
Ensembl chr 1:23,311,350...23,311,420
JBrowse link
G Mir34b microRNA 34b ISO CTD Direct Evidence: marker/mechanism CTD PMID:25105010 NCBI chr 9:51,014,862...51,014,945
Ensembl chr 9:51,014,862...51,014,945
JBrowse link
G Mir34c microRNA 34c ISO CTD Direct Evidence: marker/mechanism CTD PMID:25105010 NCBI chr 9:51,014,334...51,014,410
Ensembl chr 9:51,014,334...51,014,410
JBrowse link
G Mir369 microRNA 369 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25105010 NCBI chr12:109,709,852...109,709,930
Ensembl chr12:109,709,852...109,709,930
JBrowse link
G Mir370 microRNA 370 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25105010 NCBI chr12:109,584,692...109,584,770
Ensembl chr12:109,584,692...109,584,770
JBrowse link
G Mir409 microRNA 409 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25105010 NCBI chr12:109,709,592...109,709,670
Ensembl chr12:109,709,592...109,709,670
JBrowse link
G Mir410 microRNA 410 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25105010 NCBI chr12:109,710,149...109,710,229
Ensembl chr12:109,710,149...109,710,229
JBrowse link
G Mir432 microRNA 432 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25105010 NCBI chr12:109,561,390...109,561,464
Ensembl chr12:109,561,390...109,561,464
JBrowse link
G Mir487b microRNA 487b ISO CTD Direct Evidence: marker/mechanism CTD PMID:25105010 NCBI chr12:109,693,767...109,693,848
Ensembl chr12:109,693,767...109,693,848
JBrowse link
G Mir494 microRNA 494 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25105010 NCBI chr12:109,681,752...109,681,836
Ensembl chr12:109,681,752...109,681,836
JBrowse link
G Mir511 microRNA 511 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25105010 NCBI chr 2:14,265,814...14,265,892
Ensembl chr 2:14,265,814...14,265,892
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 6:78,402,966...78,405,651
Ensembl chr 6:78,399,694...78,405,650
JBrowse link
cerebellar medulloblastoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Msh6 mutS homolog 6 ISO ClinVar Annotator: match by term: Cerebellar medulloblastoma ClinVar NCBI chr17:88,282,478...88,298,320
Ensembl chr17:88,282,490...88,298,320
JBrowse link
chromosome 13q14 deletion syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 4933427D06Rik RIKEN cDNA 4933427D06 gene ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr 6:89,073,092...89,087,021
Ensembl chr 6:88,927,665...89,087,013
JBrowse link
G Acod1 aconitate decarboxylase 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:103,284,448...103,294,009
Ensembl chr14:103,284,413...103,294,009
JBrowse link
G Alg11 asparagine-linked glycosylation 11 (alpha-1,2-mannosyltransferase) ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr 8:22,550,731...22,561,643
Ensembl chr 8:22,550,737...22,561,643
JBrowse link
G Arl11 ADP-ribosylation factor-like 11 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:61,543,740...61,549,386
Ensembl chr14:61,547,202...61,549,385
JBrowse link
G Atp7b ATPase, Cu++ transporting, beta polypeptide ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr 8:22,482,799...22,550,632
Ensembl chr 8:22,482,801...22,550,321
JBrowse link
G Bora bora, aurora kinase A activator ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:99,283,813...99,311,976
Ensembl chr14:99,283,658...99,311,976
JBrowse link
G Cab39l calcium binding protein 39-like ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:59,678,400...59,786,353
Ensembl chr14:59,678,421...59,823,213
JBrowse link
G Ccdc70 coiled-coil domain containing 70 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr 8:22,459,791...22,464,071
Ensembl chr 8:22,459,791...22,464,057
JBrowse link
G Cdadc1 cytidine and dCMP deaminase domain containing 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:59,796,837...59,835,433
Ensembl chr14:59,796,837...59,835,408
JBrowse link
G Ckap2 cytoskeleton associated protein 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr 8:22,658,168...22,675,835
Ensembl chr 8:22,658,176...22,675,835
JBrowse link
G Cln5 ceroid-lipofuscinosis, neuronal 5 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:103,307,652...103,315,066
Ensembl chr14:103,307,652...103,315,064
JBrowse link
G Cnmd chondromodulin ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:79,875,122...79,899,634
Ensembl chr14:79,875,130...79,899,610
JBrowse link
G Commd6 COMM domain containing 6 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:101,871,202...101,877,907
Ensembl chr14:101,870,417...101,878,122
JBrowse link
G Cysltr2 cysteinyl leukotriene receptor 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:73,263,515...73,286,554
Ensembl chr14:73,263,043...73,286,554
JBrowse link
G Dach1 dachshund family transcription factor 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:98,024,282...98,407,608
Ensembl chr14:98,024,289...98,407,201
JBrowse link
G Diaph3 diaphanous related formin 3 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:86,892,793...87,378,683
Ensembl chr14:86,892,803...87,378,671
JBrowse link
G Dis3 DIS3 homolog, exosome endoribonuclease and 3'-5' exoribonuclease ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:99,314,070...99,337,217
Ensembl chr14:99,312,642...99,337,206
JBrowse link
G Dleu7 deleted in lymphocytic leukemia, 7 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:62,513,678...62,530,428
Ensembl chr14:62,513,680...62,530,496
JBrowse link
G Ebpl emopamil binding protein-like ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:61,577,212...61,597,894
Ensembl chr14:61,569,191...61,597,888
JBrowse link
G Ednrb endothelin receptor type B ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:104,052,051...104,083,248
Ensembl chr14:104,052,061...104,081,838
JBrowse link
G Fam124a family with sequence similarity 124, member A ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:62,793,186...62,845,935
Ensembl chr14:62,793,186...62,845,935
JBrowse link
G Fbxl3 F-box and leucine-rich repeat protein 3 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:103,317,675...103,337,036
Ensembl chr14:103,317,675...103,337,002
JBrowse link
G Fndc3a fibronectin type III domain containing 3A ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:72,775,393...72,948,141
Ensembl chr14:72,775,386...72,947,443
JBrowse link
G Gm4131 predicted gene 4131 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:62,699,937...62,718,604
Ensembl chr14:62,700,863...62,804,370
JBrowse link
G Gm45935 predicted gene, 45935 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:59,618,282...59,678,329 JBrowse link
G Ints6 integrator complex subunit 6 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:62,913,774...62,998,617
Ensembl chr14:62,913,779...62,998,618
JBrowse link
G Itm2b integral membrane protein 2B ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:73,599,666...73,622,729
Ensembl chr14:73,599,666...73,622,729
JBrowse link
G Kcnrg potassium channel regulator ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:61,844,906...61,850,282
Ensembl chr14:61,844,906...61,850,275
JBrowse link
G Kctd12 potassium channel tetramerisation domain containing 12 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:103,214,017...103,220,073
Ensembl chr14:103,214,017...103,220,073
JBrowse link
G Klf12 Kruppel-like factor 12 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:100,103,617...100,719,681
Ensembl chr14:100,108,068...100,522,115
JBrowse link
G Klf5 Kruppel-like factor 5 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:99,536,127...99,550,848
Ensembl chr14:99,536,127...99,552,472
JBrowse link
G Klhl1 kelch-like 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:96,342,701...96,756,470
Ensembl chr14:96,340,172...96,756,538
JBrowse link
G Kpna3 karyopherin (importin) alpha 3 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:61,602,635...61,677,396
Ensembl chr14:61,602,660...61,677,323
JBrowse link
G Krtap21-1 keratin associated protein 21-1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr16:89,199,915...89,200,662
Ensembl chr16:89,200,106...89,200,756
JBrowse link
G Lmo7 LIM domain only 7 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:101,967,353...102,172,144
Ensembl chr14:101,967,393...102,172,146
JBrowse link
G Lpar6 lysophosphatidic acid receptor 6 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:73,475,331...73,477,798
Ensembl chr14:73,475,335...73,480,734
JBrowse link
G Med4 mediator complex subunit 4 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:73,747,489...73,755,985
Ensembl chr14:73,747,465...73,756,289
JBrowse link
G Mir15a microRNA 15a ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:61,869,476...61,869,559
Ensembl chr14:61,869,476...61,869,559
JBrowse link
G Mir16-1 microRNA 16-1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:61,869,329...61,869,421
Ensembl chr14:61,869,329...61,869,421
JBrowse link
G Mir759 microRNA 759 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:79,975,871...79,975,968
Ensembl chr14:79,975,871...79,975,968
JBrowse link
G Mycbp2 MYC binding protein 2, E3 ubiquitin protein ligase ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:103,350,847...103,584,276
Ensembl chr14:103,350,847...103,584,250
JBrowse link
G Mzt1 mitotic spindle organizing protein 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:99,271,980...99,283,898
Ensembl chr14:99,271,980...99,283,570
JBrowse link
G Ndfip2 Nedd4 family interacting protein 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:105,495,975...105,546,732
Ensembl chr14:105,496,008...105,546,732
JBrowse link
G Nek3 NIMA (never in mitosis gene a)-related expressed kinase 3 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr 8:22,618,299...22,657,009
Ensembl chr 8:22,618,299...22,656,451
JBrowse link
G Nek5 NIMA (never in mitosis gene a)-related expressed kinase 5 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr 8:22,563,631...22,615,443
Ensembl chr 8:22,563,632...22,615,069
JBrowse link
G Nudt15 nudix (nucleoside diphosphate linked moiety X)-type motif 15 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:73,756,320...73,785,682
Ensembl chr14:73,756,317...73,785,682
JBrowse link
G Obi1 ORC ubiquitin ligase 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:104,714,970...104,760,148
Ensembl chr14:104,714,972...104,760,081
JBrowse link
G Olfm4 olfactomedin 4 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:80,237,742...80,260,581
Ensembl chr14:80,221,521...80,260,579
JBrowse link
G Pcdh17 protocadherin 17 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:84,680,626...84,775,005
Ensembl chr14:84,681,003...84,776,442
JBrowse link
G Pcdh20 protocadherin 20 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:88,702,183...88,708,832
Ensembl chr14:88,702,179...88,708,832
JBrowse link
G Pcdh8 protocadherin 8 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:80,004,212...80,008,752
Ensembl chr14:80,004,215...80,008,752
JBrowse link
G Pcdh9 protocadherin 9 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:93,251,136...94,132,619
Ensembl chr14:93,250,846...94,128,115
JBrowse link
G Phf11d PHD finger protein 11D ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:59,584,856...59,602,939
Ensembl chr14:59,584,856...59,602,919
JBrowse link
G Pibf1 progesterone immunomodulatory binding factor 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:99,336,860...99,492,335
Ensembl chr14:99,336,860...99,491,929
JBrowse link
G Pou4f1 POU domain, class 4, transcription factor 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:104,699,111...104,705,554
Ensembl chr14:104,699,112...104,705,435
JBrowse link
G Rb1 RB transcriptional corepressor 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:73,430,298...73,563,446
Ensembl chr14:73,421,113...73,563,262
JBrowse link
G Rbm26 RNA binding motif protein 26 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:105,344,187...105,418,475
Ensembl chr14:105,344,187...105,414,763
JBrowse link
G Rcbtb1 regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:59,438,471...59,474,716
Ensembl chr14:59,438,658...59,474,714
JBrowse link
G Rcbtb2 regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:73,376,185...73,421,495
Ensembl chr14:73,360,477...73,445,283
JBrowse link
G Rnaseh2b ribonuclease H2, subunit B ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:62,569,517...62,610,445
Ensembl chr14:62,530,038...62,610,441
JBrowse link
G Scel sciellin ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:103,750,499...103,850,782
Ensembl chr14:103,750,778...103,850,233
JBrowse link
G Serpine3 serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 3 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:62,900,743...62,929,692
Ensembl chr14:62,901,116...62,929,692
JBrowse link
G Setdb2 SET domain, bifurcated 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:59,639,458...59,678,329
Ensembl chr14:59,639,458...59,678,333
JBrowse link
G Slain1 SLAIN motif family, member 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:103,887,664...103,942,343
Ensembl chr14:103,887,664...103,942,343
JBrowse link
G Slitrk1 SLIT and NTRK-like family, member 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:109,147,420...109,151,671
Ensembl chr14:109,146,232...109,151,590
JBrowse link
G Slitrk6 SLIT and NTRK-like family, member 6 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:110,984,770...110,992,640
Ensembl chr14:110,986,012...110,992,581
JBrowse link
G Spry2 sprouty RTK signaling antagonist 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:106,129,381...106,134,899
Ensembl chr14:106,129,381...106,134,253
JBrowse link
G Spryd7 SPRY domain containing 7 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:61,769,300...61,794,335
Ensembl chr14:61,769,442...61,794,335
JBrowse link
G Sucla2 succinate-Coenzyme A ligase, ADP-forming, beta subunit ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:73,790,226...73,833,584
Ensembl chr14:73,762,759...73,833,582
JBrowse link
G Sugt1 SGT1, suppressor of G2 allele of SKP1 (S. cerevisiae) ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:79,825,100...79,868,237
Ensembl chr14:79,825,131...79,872,636
JBrowse link
G Tbc1d4 TBC1 domain family, member 4 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:101,679,796...101,846,717
Ensembl chr14:101,679,796...101,846,627
JBrowse link
G Tdrd3 tudor domain containing 3 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:87,647,598...87,782,944
Ensembl chr14:87,654,075...87,782,940
JBrowse link
G Thsd1 thrombospondin, type I, domain 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr 8:22,711,623...22,752,973
Ensembl chr 8:22,717,329...22,751,350
JBrowse link
G Trim13 tripartite motif-containing 13 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:61,835,675...61,847,736
Ensembl chr14:61,835,696...61,843,395
JBrowse link
G Uchl3 ubiquitin carboxyl-terminal esterase L3 (ubiquitin thiolesterase) ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:101,891,387...101,933,561
Ensembl chr14:101,891,403...101,933,561
JBrowse link
G Vps36 vacuolar protein sorting 36 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr 8:22,682,849...22,710,969
Ensembl chr 8:22,682,825...22,710,859
JBrowse link
G Wdfy2 WD repeat and FYVE domain containing 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:63,075,110...63,198,958
Ensembl chr14:63,075,127...63,198,958
JBrowse link
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 More... NCBI chr18:34,353,350...34,455,243
Ensembl chr18:34,353,977...34,455,605
JBrowse link
G Braf Braf transforming gene ISO CTD Direct Evidence: marker/mechanism CTD PMID:24413733 NCBI chr 6:39,580,171...39,702,592
Ensembl chr 6:39,580,171...39,702,397
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 More... NCBI chr 9:120,762,466...120,789,573
Ensembl chr 9:120,758,282...120,789,573
JBrowse link
G Nf1 neurofibromin 1 ISO ClinVar Annotator: match by term: Craniopharyngioma ClinVar PMID:25741868 PMID:28492532 NCBI chr11:79,223,541...79,472,435
Ensembl chr11:79,230,519...79,472,438
JBrowse link
G Pdgfra platelet derived growth factor receptor, alpha polypeptide disease_progression ISO RGD PMID:20190664 RGD:11080971 NCBI chr 5:75,311,988...75,358,867
Ensembl chr 5:75,312,953...75,358,876
JBrowse link
G Ptch1 patched 1 ISO ClinVar Annotator: match by term: Craniopharyngioma ClinVar PMID:25741868 PMID:28492532 NCBI chr13:63,656,142...63,721,274
Ensembl chr13:63,656,142...63,721,412
JBrowse link
G Sufu SUFU negative regulator of hedgehog signaling ISO ClinVar Annotator: match by term: Craniopharyngioma ClinVar PMID:25741868 PMID:28492532 NCBI chr19:46,385,335...46,477,243
Ensembl chr19:46,385,335...46,477,243
JBrowse link
G Tsc1 TSC complex subunit 1 ISO ClinVar Annotator: match by term: Craniopharyngioma ClinVar PMID:22161988 PMID:25741868 PMID:28492532 NCBI chr 2:28,531,005...28,581,184
Ensembl chr 2:28,531,240...28,581,179
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 6:39,580,171...39,702,592
Ensembl chr 6:39,580,171...39,702,397
JBrowse link
G LOC110806267 Tert 5' regulatory region ISO ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 1 ClinVar NCBI chr13:73,770,663...73,775,510 JBrowse link
G Mc1r melanocortin 1 receptor ISO ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 1 ClinVar PMID:15998953 PMID:16809487 PMID:16982779 PMID:17279550 PMID:17316231 More... NCBI chr 8:124,133,821...124,137,483
Ensembl chr 8:124,133,846...124,137,483
JBrowse link
G Pot1a protection of telomeres 1A ISO ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 1 ClinVar PMID:24686846 PMID:25741868 PMID:28492532 PMID:30586141 NCBI chr 6:25,743,939...25,809,280
Ensembl chr 6:25,743,736...25,809,245
JBrowse link
G Stk11 serine/threonine kinase 11 ISO ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 1 OMIM
ClinVar
PMID:10201537 PMID:10208439 PMID:23555315 PMID:23993471 PMID:24033266 More... NCBI chr10:79,951,602...79,966,513
Ensembl chr10:79,951,637...79,966,516
JBrowse link
G Tert telomerase reverse transcriptase ISO ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 1 ClinVar NCBI chr13:73,775,030...73,797,962
Ensembl chr13:73,775,030...73,797,962
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 chr19:6,385,009...6,390,924
Ensembl chr19:6,385,009...6,390,921
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 2:150,460,031...150,510,160
Ensembl chr 2:150,460,025...150,510,420
JBrowse link
G Acss2 acyl-CoA synthetase short-chain family member 2 treatment ISO RGD PMID:27539851 RGD:13831304 NCBI chr 2:155,359,963...155,404,663
Ensembl chr 2:155,359,868...155,427,644
JBrowse link
G Antxr1 anthrax toxin receptor 1 treatment IMP
ISO
RGD PMID:19622764 PMID:19609240 RGD:9684925, RGD:9684939 NCBI chr 6:87,110,835...87,312,757
Ensembl chr 6:87,110,835...87,312,803
JBrowse link
G Braf Braf transforming gene ISO CTD Direct Evidence: marker/mechanism CTD PMID:29179997 PMID:29438700 NCBI chr 6:39,580,171...39,702,592
Ensembl chr 6:39,580,171...39,702,397
JBrowse link
G Calr calreticulin ISO CTD Direct Evidence: therapeutic CTD PMID:16388313 NCBI chr 8:85,568,717...85,573,560
Ensembl chr 8:85,568,479...85,573,563
JBrowse link
G Ccl20 chemokine (C-C motif) ligand 20 treatment IDA RGD PMID:14500387 RGD:7483600 NCBI chr 1:83,094,487...83,096,888
Ensembl chr 1:83,094,487...83,096,888
JBrowse link
G Ctla4 cytotoxic T-lymphocyte-associated protein 4 treatment ISO RGD PMID:24041689 RGD:7411680 NCBI chr 1:60,948,184...60,954,991
Ensembl chr 1:60,926,159...60,954,991
JBrowse link
G Egr1 early growth response 1 IEP mRNA, protein:increased expression:salivary gland (mouse) RGD PMID:19517020 RGD:5131885 NCBI chr18:34,994,260...34,998,009
Ensembl chr18:34,992,876...34,998,037
JBrowse link
G Esr2 estrogen receptor 2 (beta) severity IMP RGD PMID:20354658 RGD:8694122 NCBI chr12:76,167,193...76,224,033
Ensembl chr12:76,167,193...76,224,033
JBrowse link
G Hgf hepatocyte growth factor IMP RGD PMID:9823327 RGD:8548620 NCBI chr 5:16,758,493...16,827,448
Ensembl chr 5:16,758,493...16,825,150
JBrowse link
G Ifnb1 interferon beta 1, fibroblast ISO CTD Direct Evidence: therapeutic CTD PMID:16417267 NCBI chr 4:88,440,262...88,441,031
Ensembl chr 4:88,440,262...88,441,011
JBrowse link
G Ikbkb inhibitor of kappaB kinase beta ISO RGD PMID:19276165 RGD:7495758 NCBI chr 8:23,149,221...23,196,605
Ensembl chr 8:23,149,228...23,196,605
JBrowse link
G Il18 interleukin 18 treatment IMP RGD PMID:12230493 PMID:17411412 RGD:8655870, RGD:8655901 NCBI chr 9:50,466,000...50,493,141
Ensembl chr 9:50,466,127...50,493,140
JBrowse link
G Il1a interleukin 1 alpha treatment IDA RGD PMID:8061895 RGD:7794735 NCBI chr 2:129,141,530...129,151,892
Ensembl chr 2:129,141,530...129,151,892
JBrowse link
G Il1b interleukin 1 beta ISO RGD PMID:1966551 RGD:7401226 NCBI chr 2:129,206,490...129,213,059
Ensembl chr 2:129,206,490...129,213,059
JBrowse link
G Il2 interleukin 2 ISO RGD PMID:11884028 RGD:8662950 NCBI chr 3:37,174,862...37,180,103
Ensembl chr 3:37,174,672...37,180,108
JBrowse link
G Kdm1a lysine (K)-specific demethylase 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:29438700 NCBI chr 4:136,277,844...136,330,127
Ensembl chr 4:136,277,851...136,330,034
JBrowse link
G Kdm4c lysine (K)-specific demethylase 4C ISO CTD Direct Evidence: marker/mechanism CTD PMID:29438700 NCBI chr 4:74,160,734...74,324,101
Ensembl chr 4:74,160,734...74,324,097
JBrowse link
G Mc1r melanocortin 1 receptor IAGP RGD PMID:20126537 RGD:5687319 NCBI chr 8:124,133,821...124,137,483
Ensembl chr 8:124,133,846...124,137,483
JBrowse link
G Pdcd1 programmed cell death 1 treatment IMP RGD PMID:19208793 RGD:9589070 NCBI chr 1:93,966,027...93,980,278
Ensembl chr 1:93,966,027...93,980,278
JBrowse link
G Pten phosphatase and tensin homolog ISO CTD Direct Evidence: marker/mechanism CTD PMID:29179997 NCBI chr19:32,734,977...32,803,560
Ensembl chr19:32,734,897...32,803,560
JBrowse link
G Pxn paxillin ISO CTD Direct Evidence: marker/mechanism CTD PMID:18492274 NCBI chr 5:115,630,153...115,694,046
Ensembl chr 5:115,644,735...115,694,046
JBrowse link
G Tert telomerase reverse transcriptase treatment IMP RGD PMID:19903903 RGD:11038656 NCBI chr13:73,775,030...73,797,962
Ensembl chr13:73,775,030...73,797,962
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 Annotator: match by term: Thyroid cancer, familial medullary ClinVar NCBI chr 3:87,704,215...87,723,408
Ensembl chr 3:87,704,258...87,723,408
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 More... NCBI chr 3:87,685,551...87,702,549
Ensembl chr 3:87,685,551...87,702,469
JBrowse link
G Prlr prolactin receptor IEA OMIM:155240 MouseDO NCBI chr15:10,177,324...10,349,276
Ensembl chr15:10,177,324...10,349,266
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
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:2660074 PMID:3078962 PMID:3697657 PMID:7536460 PMID:7595170 More... NCBI chr 6:118,128,709...118,174,705
Ensembl chr 6:118,128,706...118,174,679
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: Cutaneous Malignant Melanoma, Dominant | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 2 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3
ClinVar Annotator: match by term: Cutaneous Malignant Melanoma, Dominant | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5
OMIM
ClinVar
PMID:5377176 PMID:7652577 PMID:8528263 PMID:8968104 PMID:9228064 More... NCBI chr10:126,899,404...126,903,157
Ensembl chr10:126,899,403...126,903,789
JBrowse link
G Cdkn2a cyclin dependent kinase inhibitor 2A ISO ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Hereditary cutaneous melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 2 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 OMIM
ClinVar
PMID:865368 PMID:2319082 PMID:2677576 PMID:7566978 PMID:7569991 More... NCBI chr 4:89,192,710...89,212,856
Ensembl chr 4:89,192,708...89,212,890
JBrowse link
G Cdkn2b cyclin dependent kinase inhibitor 2B ISO ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:9622062 PMID:28492532 NCBI chr 4:89,224,526...89,229,269
Ensembl chr 4:89,224,536...89,229,276
JBrowse link
G Fanca Fanconi anemia, complementation group A ISO ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 ClinVar PMID:28492532 NCBI chr 8:123,993,033...124,045,390
Ensembl chr 8:123,995,039...124,045,315
JBrowse link
G Klc1 kinesin light chain 1 ISO ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 6 ClinVar PMID:11059748 NCBI chr12:111,724,869...111,774,278
Ensembl chr12:111,725,283...111,774,278
JBrowse link
G LOC110806267 Tert 5' regulatory region ISO ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 9 ClinVar PMID:20871597 PMID:22037553 PMID:23066086 PMID:23348503 PMID:23535731 More... NCBI chr13:73,770,663...73,775,510 JBrowse link
G Mc1r melanocortin 1 receptor ISO ClinVar Annotator: match by term: Cutaneous malignant melanoma 5 | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 OMIM
ClinVar
PMID:7581459 PMID:8894704 PMID:8944016 PMID:8990005 PMID:9032047 More... NCBI chr 8:124,133,821...124,137,483
Ensembl chr 8:124,133,846...124,137,483
JBrowse link
G Mitf melanogenesis associated transcription factor susceptibility ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 8
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 More... NCBI chr 6:97,783,966...97,998,321
Ensembl chr 6:97,784,013...97,998,310
JBrowse link
G Pot1a protection of telomeres 1A susceptibility ISO ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:9536098 PMID:16199547 PMID:17576681 PMID:19461895 PMID:23502782 More... NCBI chr 6:25,743,939...25,809,280
Ensembl chr 6:25,743,736...25,809,245
JBrowse link
G Spire2 spire type actin nucleation factor 2 ISO ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 ClinVar PMID:28492532 NCBI chr 8:124,059,452...124,096,257
Ensembl chr 8:124,059,452...124,096,254
JBrowse link
G Tcf25 transcription factor 25 (basic helix-loop-helix) ISO ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 ClinVar PMID:28492532 NCBI chr 8:124,097,511...124,130,913
Ensembl chr 8:124,100,492...124,130,574
JBrowse link
G Tert telomerase reverse transcriptase ISO ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 9 OMIM
ClinVar
PMID:20871597 PMID:22037553 PMID:23066086 PMID:23348503 PMID:23535731 More... NCBI chr13:73,775,030...73,797,962
Ensembl chr13:73,775,030...73,797,962
JBrowse link
G Trp53 transformation related protein 53 ISO ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5
ClinVar Annotator: match by term: Familial melanoma
ClinVar PMID:12826609 PMID:25741868 PMID:28492532 NCBI chr11:69,471,174...69,482,699
Ensembl chr11:69,471,185...69,482,699
JBrowse link
G Tspan31 tetraspanin 31 ISO ClinVar Annotator: match by term: Cutaneous Malignant Melanoma, Dominant | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 ClinVar PMID:9536098 PMID:17576681 PMID:20668451 PMID:21520333 PMID:23718828 More... NCBI chr10:126,903,156...126,906,977
Ensembl chr10:126,903,149...126,906,133
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 More... NCBI chr 7:87,073,979...87,142,720
Ensembl chr 7:87,073,979...87,142,720
JBrowse link
G Xrcc3 X-ray repair complementing defective repair in Chinese hamster cells 3 ISO ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 6 ClinVar
OMIM
PMID:11059748 NCBI chr12:111,769,626...111,780,326
Ensembl chr12:111,769,626...111,780,307
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 chr14:73,430,298...73,563,446
Ensembl chr14:73,421,113...73,563,262
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 7:67,601,486...67,883,416
Ensembl chr 7:67,602,575...67,883,416
JBrowse link
G Men1 multiple endocrine neoplasia 1 ISO DNA:mutations: :
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:17961653 PMID:15944766 RGD:2317354 NCBI chr19:6,385,009...6,390,924
Ensembl chr19:6,385,009...6,390,921
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 6:17,463,351...17,573,979
Ensembl chr 6:17,463,799...17,573,979
JBrowse link
G Mgmt O-6-methylguanine-DNA methyltransferase ISO DNA:hypomethylation:promoter (human) RGD PMID:17278096 RGD:2317340 NCBI chr 7:136,496,192...136,729,922
Ensembl chr 7:136,496,343...136,731,995
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 3:28,752,052...28,782,510
Ensembl chr 3:28,752,052...28,785,508
JBrowse link
Gastro-Enteropancreatic Neuroendocrine Tumor term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atm ataxia telangiectasia mutated disease_progression ISO associated with Neoplasm Metastasis;mRNA, protein: decreased expression:gastrointestinal system, multiple (human) RGD PMID:22485171 RGD:150340716 NCBI chr 9:53,348,422...53,448,125
Ensembl chr 9:53,350,449...53,448,040
JBrowse link
G Atrx ATRX, chromatin remodeler severity ISO RGD PMID:26026117 RGD:127285385 NCBI chr  X:104,841,221...104,972,978
Ensembl chr  X:104,841,221...104,973,009
JBrowse link
G Cd53 CD53 antigen ISO CTD Direct Evidence: marker/mechanism CTD PMID:29915428 NCBI chr 3:106,666,177...106,697,465
Ensembl chr 3:106,667,237...106,697,465
JBrowse link
G Cd86 CD86 antigen ISO CTD Direct Evidence: marker/mechanism CTD PMID:29915428 NCBI chr16:36,389,318...36,486,439
Ensembl chr16:36,424,231...36,486,443
JBrowse link
G Ciita class II transactivator ISO CTD Direct Evidence: marker/mechanism CTD PMID:29915428 NCBI chr16:10,297,877...10,348,928
Ensembl chr16:10,297,923...10,346,282
JBrowse link
G Cxcr4 chemokine (C-X-C motif) receptor 4 severity ISO protein:increased expression:colon (human) RGD PMID:26259237 RGD:11530617 NCBI chr 1:128,515,936...128,520,036
Ensembl chr 1:128,515,936...128,520,030
JBrowse link
G Daxx Fas death domain-associated protein severity ISO RGD PMID:26026117 RGD:127285385 NCBI chr17:34,128,379...34,134,564
Ensembl chr17:34,128,388...34,134,564
JBrowse link
G Eomes eomesodermin ISO CTD Direct Evidence: marker/mechanism CTD PMID:29915428 NCBI chr 9:118,307,254...118,315,200
Ensembl chr 9:118,307,280...118,315,200
JBrowse link
G Gata3 GATA binding protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29915428 NCBI chr 2:9,861,889...9,892,762
Ensembl chr 2:9,861,889...9,894,845
JBrowse link
G Gfi1 growth factor independent 1 transcription repressor ISO CTD Direct Evidence: marker/mechanism CTD PMID:29915428 NCBI chr 5:107,864,521...107,873,671
Ensembl chr 5:107,864,523...107,873,902
JBrowse link
G Ikzf1 IKAROS family zinc finger 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29915428 NCBI chr11:11,634,970...11,722,930
Ensembl chr11:11,634,980...11,722,926
JBrowse link
G Ikzf3 IKAROS family zinc finger 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29915428 NCBI chr11:98,355,436...98,437,157
Ensembl chr11:98,355,728...98,436,857
JBrowse link
G Il10 interleukin 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29915428 NCBI chr 1:130,947,459...130,952,707
Ensembl chr 1:130,947,582...130,952,711
JBrowse link
G Il2rb interleukin 2 receptor, beta chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:29915428 NCBI chr15:78,363,456...78,396,569
Ensembl chr15:78,363,456...78,379,471
JBrowse link
G Notch2 notch 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29915428 NCBI chr 3:97,920,854...98,057,683
Ensembl chr 3:97,920,843...98,057,677
JBrowse link
G Pou2f2 POU domain, class 2, transcription factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29915428 NCBI chr 7:24,786,766...24,880,211
Ensembl chr 7:24,786,769...24,879,151
JBrowse link
G Ptprc protein tyrosine phosphatase, receptor type, C ISO CTD Direct Evidence: marker/mechanism CTD PMID:29915428 NCBI chr 1:137,990,597...138,103,491
Ensembl chr 1:137,990,599...138,103,446
JBrowse link
G Runx3 runt related transcription factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29915428 NCBI chr 4:134,847,956...134,905,301
Ensembl chr 4:134,847,963...134,905,301
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 5:91,505,120...91,550,853
Ensembl chr 5:91,505,120...91,550,853
JBrowse link
G Men1 multiple endocrine neoplasia 1 IMP
ISO
DNA:deletion:exon
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:17961653 PMID:20138042 RGD:2317288 NCBI chr19:6,385,009...6,390,924
Ensembl chr19:6,385,009...6,390,921
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 3:28,752,052...28,782,510
Ensembl chr 3:28,752,052...28,785,508
JBrowse link
G Sstr4 somatostatin receptor 4 ISO RGD PMID:8132773 RGD:2324994 NCBI chr 2:148,237,297...148,238,684
Ensembl chr 2:148,237,264...148,238,687
JBrowse link
Hirschsprung Disease Ganglioneuroblastoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Phox2b paired-like homeobox 2b ISO ClinVar Annotator: match by term: Neuroblastoma with Hirschsprung disease ClinVar PMID:11953745 PMID:12438263 PMID:15024693 PMID:15338462 NCBI chr 5:67,251,740...67,256,469
Ensembl chr 5:67,251,742...67,256,644
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 chr10:111,308,754...111,334,011
Ensembl chr10:111,309,084...111,334,011
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 More... NCBI chr 9:50,507,640...50,515,149
Ensembl chr 9:50,507,657...50,515,112
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:104,841,221...104,972,978
Ensembl chr  X:104,841,221...104,973,009
JBrowse link
G Cdk4 cyclin-dependent kinase 4 ISO protein:increased expression:pancreas, islet of Langerhans (human) RGD PMID:22761470 RGD:13452384 NCBI chr10:126,899,404...126,903,157
Ensembl chr10:126,899,403...126,903,789
JBrowse link
G Daxx Fas death domain-associated protein disease_progression ISO RGD PMID:21252315 RGD:9587819 NCBI chr17:34,128,379...34,134,564
Ensembl chr17:34,128,388...34,134,564
JBrowse link
G Pcsk1 proprotein convertase subtilisin/kexin type 1 ISO protein:increased expression:insulinoma (rat) RGD PMID:7925129 RGD:2308920 NCBI chr13:75,237,407...75,282,980
Ensembl chr13:75,237,945...75,282,980
JBrowse link
Islet Cell Tumor Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Max Max protein ISO ClinVar Annotator: match by term: Chromaffinoma ClinVar PMID:22452945 PMID:25741868 PMID:26070438 PMID:28492532 NCBI chr12:76,984,043...77,009,123
Ensembl chr12:76,984,043...77,008,975
JBrowse link
G Mpz myelin protein zero ISO ClinVar Annotator: match by term: Chromaffinoma ClinVar PMID:12807974 PMID:17468193 PMID:19454582 PMID:23342407 PMID:24033266 More... NCBI chr 1:170,978,282...170,988,699
Ensembl chr 1:170,978,280...170,988,699
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 More... NCBI chr 6:118,128,709...118,174,705
Ensembl chr 6:118,128,706...118,174,679
JBrowse link
G Sdhaf2 succinate dehydrogenase complex assembly factor 2 ISO ClinVar Annotator: match by term: Chromaffinoma ClinVar PMID:28492532 NCBI chr19:10,477,876...10,502,573
Ensembl chr19:10,477,898...10,503,506
JBrowse link
G Sdhb succinate dehydrogenase complex, subunit B, iron sulfur (Ip) ISO ClinVar Annotator: match by term: Chromaffinoma ClinVar PMID:490809 PMID:2308387 PMID:9509062 PMID:9536098 PMID:11404820 More... NCBI chr 4:140,688,582...140,706,509
Ensembl chr 4:140,688,514...140,706,504
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:22703879 PMID:23342407 More... NCBI chr 1:170,956,726...170,978,209
Ensembl chr 1:170,954,734...170,978,172
JBrowse link
G Sdhd succinate dehydrogenase complex, subunit D, integral membrane protein ISO ClinVar Annotator: match by term: Chromaffinoma ClinVar PMID:1945482 PMID:9683583 PMID:10657297 PMID:11156372 PMID:11343322 More... NCBI chr 9:50,507,640...50,515,149
Ensembl chr 9:50,507,657...50,515,112
JBrowse link
G Tmem127 transmembrane protein 127 ISO ClinVar Annotator: match by term: Chromaffinoma ClinVar PMID:16199547 PMID:20154675 PMID:20923864 PMID:21156949 PMID:21613359 More... NCBI chr 2:127,089,868...127,103,028
Ensembl chr 2:127,089,828...127,103,027
JBrowse link
Lung Carcinoid Tumors term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atrx ATRX, chromatin remodeler disease_progression ISO protein:decreased expression:nucleus, lung RGD PMID:31499081 RGD:127285379 NCBI chr  X:104,841,221...104,972,978
Ensembl chr  X:104,841,221...104,973,009
JBrowse link
G Col4a3 collagen, type IV, alpha 3 severity ISO mRNA:decreased expression:lung (human) RGD PMID:25105010 RGD:151660336 NCBI chr 1:82,564,642...82,699,780
Ensembl chr 1:82,564,642...82,699,780
JBrowse link
G Creb5 cAMP responsive element binding protein 5 severity ISO mRNA:decreased expression:lung (human) RGD PMID:25105010 RGD:151660336 NCBI chr 6:53,264,154...53,677,349
Ensembl chr 6:53,264,255...53,677,361
JBrowse link
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 More... NCBI chr19:6,385,009...6,390,924
Ensembl chr19:6,385,009...6,390,921
JBrowse link
G Ptprb protein tyrosine phosphatase, receptor type, B severity ISO mRNA:decreased expression:lung (human) RGD PMID:25105010 RGD:151660336 NCBI chr10:116,111,407...116,225,443
Ensembl chr10:116,111,428...116,225,440
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 More... NCBI chr12:112,620,255...112,641,318
Ensembl chr12:112,620,255...112,641,318
JBrowse link
G B2m beta-2 microglobulin ISO ClinVar Annotator: match by term: Lung oat cell carcinoma ClinVar PMID:26619011 NCBI chr 2:121,978,168...121,983,563
Ensembl chr 2:121,978,167...121,983,564
JBrowse link
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha ISO ClinVar Annotator: match by term: Lung oat cell carcinoma ClinVar PMID:15016963 PMID:15254419 PMID:15520168 PMID:15608678 PMID:15647370 More... NCBI chr 3:32,451,203...32,520,256
Ensembl chr 3:32,451,820...32,522,635
JBrowse link
G Pten phosphatase and tensin homolog ISO ClinVar Annotator: match by term: Lung oat cell carcinoma ClinVar PMID:1945792 PMID:9467011 PMID:9915974 PMID:10866302 PMID:11504908 More... NCBI chr19:32,734,977...32,803,560
Ensembl chr19:32,734,897...32,803,560
JBrowse link
G Rb1 RB transcriptional corepressor 1 ISO ClinVar Annotator: match by term: Lung oat cell carcinoma ClinVar PMID:1352883 PMID:7881418 PMID:9632788 PMID:9671401 PMID:10486322 More... NCBI chr14:73,430,298...73,563,446
Ensembl chr14:73,421,113...73,563,262
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 More... NCBI chr11:69,471,174...69,482,699
Ensembl chr11:69,471,185...69,482,699
JBrowse link
lung small cell carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acvr1b activin A receptor, type 1B ISO RGD PMID:33880365 RGD:151665493 NCBI chr15:101,071,953...101,111,565
Ensembl chr15:101,071,948...101,111,565
JBrowse link
G Adcy1 adenylate cyclase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22941189 NCBI chr11:7,013,433...7,128,506
Ensembl chr11:7,013,489...7,128,506
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 More... NCBI chr12:112,620,255...112,641,318
Ensembl chr12:112,620,255...112,641,318
JBrowse link
G Ascl1 achaete-scute family bHLH transcription factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26253517 NCBI chr10:87,326,681...87,329,522
Ensembl chr10:87,326,681...87,329,522
JBrowse link
G Atm ataxia telangiectasia mutated susceptibility ISO DNA:SNP:intron:(rs227060) (human) RGD PMID:28642860 RGD:150383339 NCBI chr 9:53,348,422...53,448,125
Ensembl chr 9:53,350,449...53,448,040
JBrowse link
G Atrx ATRX, chromatin remodeler disease_progression ISO RGD PMID:31374064 PMID:29748005 RGD:127285382, RGD:127285383 NCBI chr  X:104,841,221...104,972,978
Ensembl chr  X:104,841,221...104,973,009
JBrowse link
G Avp arginine vasopressin ISO CTD Direct Evidence: marker/mechanism CTD PMID:2832203 NCBI chr 2:130,422,540...130,424,508
Ensembl chr 2:130,422,540...130,424,474
JBrowse link
G Axin2 axin 2 disease_progression ISO DNA:SNP::1386 C>T(human) RGD PMID:30346805 RGD:151356655 NCBI chr11:108,808,654...108,841,609
Ensembl chr11:108,811,175...108,841,609
JBrowse link
G B2m beta-2 microglobulin ISO ClinVar Annotator: match by term: Small cell lung carcinoma ClinVar PMID:26619011 NCBI chr 2:121,978,168...121,983,563
Ensembl chr 2:121,978,167...121,983,564
JBrowse link
G Bcl2 B cell leukemia/lymphoma 2 susceptibility ISO DNA:SNP: :rs2279115(human) RGD PMID:26311051 RGD:13673911 NCBI chr 1:106,465,906...106,642,020
Ensembl chr 1:106,465,908...106,642,004
JBrowse link
G Bclaf1 BCL2-associated transcription factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22941189 NCBI chr10:20,187,897...20,218,390
Ensembl chr10:20,188,215...20,220,359
JBrowse link
G Ccnd1 cyclin D1 disease_progression ISO DNA:snp:exon:c.870G>A (human) RGD PMID:29739297 RGD:13673912 NCBI chr 7:144,483,668...144,493,568
Ensembl chr 7:144,483,668...144,493,662
JBrowse link
G Cdkn1b cyclin-dependent kinase inhibitor 1B ISO protein:increased expression:lung RGD PMID:9500468 RGD:13673920 NCBI chr 6:134,897,364...134,902,488
Ensembl chr 6:134,897,364...134,902,476
JBrowse link
G Cdyl chromodomain protein, Y chromosome-like ISO CTD Direct Evidence: marker/mechanism CTD PMID:22941189 NCBI chr13:35,843,801...36,058,047
Ensembl chr13:35,843,816...36,058,046
JBrowse link
G Chrna3 cholinergic receptor, nicotinic, alpha polypeptide 3 susceptibility ISO mRNA:increased expression:lung
DNA:SNP:cds:rs8040868(human)
RGD PMID:20124469 PMID:22280835 RGD:150527851, RGD:151347453 NCBI chr 9:54,917,401...54,933,846
Ensembl chr 9:54,917,395...54,933,846
JBrowse link
G Chrna5 cholinergic receptor, nicotinic, alpha polypeptide 5 ISO mRNA:increased expression:lung RGD PMID:20124469 RGD:150527851 NCBI chr 9:54,888,112...54,918,704
Ensembl chr 9:54,888,164...54,915,063
JBrowse link
G Chrna9 cholinergic receptor, nicotinic, alpha polypeptide 9 susceptibility ISO DNA:SNPs:multiples: RGD PMID:22280835 RGD:151347453 NCBI chr 5:66,092,197...66,134,829
Ensembl chr 5:66,092,264...66,134,669
JBrowse link
G Chrnb4 cholinergic receptor, nicotinic, beta polypeptide 4 ISO mRNA:increased expression:lung RGD PMID:20124469 RGD:150527851 NCBI chr 9:54,935,438...54,956,236
Ensembl chr 9:54,935,438...54,956,063
JBrowse link
G Ckb creatine kinase, brain ISO CTD Direct Evidence: marker/mechanism CTD PMID:2828370 NCBI chr12:111,635,789...111,638,772
Ensembl chr12:111,635,795...111,638,772
JBrowse link
G Cntnap2 contactin associated protein-like 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22941189 NCBI chr 6:45,036,995...47,278,330
Ensembl chr 6:45,036,291...47,281,147
JBrowse link
G Col22a1 collagen, type XXII, alpha 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22941189 NCBI chr15:71,667,644...71,906,087
Ensembl chr15:71,667,644...71,906,076
JBrowse link
G Col4a2 collagen, type IV, alpha 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22941189 NCBI chr 8:11,362,805...11,499,287
Ensembl chr 8:11,362,805...11,499,287
JBrowse link
G Crebbp CREB binding protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:22941188 NCBI chr16:3,899,198...4,031,864
Ensembl chr16:3,899,192...4,031,861
JBrowse link
G Csf1r colony stimulating factor 1 receptor exacerbates ISO protein:increased expression:lung (human) RGD PMID:1390197 RGD:150524305 NCBI chr18:61,238,644...61,264,211
Ensembl chr18:61,233,670...61,265,221
JBrowse link
G Csf3 colony stimulating factor 3 (granulocyte) ISO CTD Direct Evidence: therapeutic CTD PMID:9093707 NCBI chr11:98,591,287...98,594,457
Ensembl chr11:98,592,089...98,594,455
JBrowse link
G Cyp24a1 cytochrome P450, family 24, subfamily a, polypeptide 1 susceptibility ISO DNA:SNP:CDS: (rs6068816) (human) RGD PMID:31264381 RGD:151665340 NCBI chr 2:170,324,877...170,339,065
Ensembl chr 2:170,324,628...170,339,065
JBrowse link
G Dip2c disco interacting protein 2 homolog C ISO CTD Direct Evidence: marker/mechanism CTD PMID:22941189 NCBI chr13:9,326,530...9,718,964
Ensembl chr13:9,326,564...9,718,964
JBrowse link
G Dnmt3b DNA methyltransferase 3B susceptibility ISO DNA:SNPs:promoter:-283T >C,-579G>T(human) RGD PMID:15528220 RGD:9589086 NCBI chr 2:153,491,332...153,529,650
Ensembl chr 2:153,491,370...153,529,650
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 2:154,401,320...154,411,812
Ensembl chr 2:154,401,327...154,411,812
JBrowse link
G Egfr epidermal growth factor receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:20837450 NCBI chr11:16,700,153...16,868,158
Ensembl chr11:16,702,203...16,868,158
JBrowse link
G Elavl2 ELAV like RNA binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22941189 NCBI chr 4:91,099,770...91,288,407
Ensembl chr 4:91,139,000...91,289,022
JBrowse link
G Ep300 E1A binding protein p300 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22941188 NCBI chr15:81,470,329...81,536,278
Ensembl chr15:81,469,552...81,536,278
JBrowse link
G Epha7 Eph receptor A7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22941188 NCBI chr 4:28,811,840...28,969,391
Ensembl chr 4:28,813,131...28,967,499
JBrowse link
G Fat1 FAT atypical cadherin 1 ISO DNA:mutations:multiple (human) RGD PMID:31199602 RGD:150429733 NCBI chr 8:45,386,137...45,505,294
Ensembl chr 8:45,388,484...45,505,294
JBrowse link
G Fgfr1 fibroblast growth factor receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22941188 NCBI chr 8:26,008,775...26,065,734
Ensembl chr 8:26,003,670...26,065,734
JBrowse link
G Foxa1 forkhead box A1 disease_progression ISO RGD PMID:22383183 RGD:151665760 NCBI chr12:57,585,750...57,594,815
Ensembl chr12:57,587,414...57,593,702
JBrowse link
G Grik3 glutamate receptor, ionotropic, kainate 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22941189 NCBI chr 4:125,384,025...125,607,966
Ensembl chr 4:125,384,493...125,607,966
JBrowse link
G Grm8 glutamate receptor, metabotropic 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22941189 NCBI chr 6:27,275,120...28,135,393
Ensembl chr 6:27,275,118...28,135,177
JBrowse link
G Id2 inhibitor of DNA binding 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23582323 NCBI chr12:25,143,798...25,146,091
Ensembl chr12:25,143,798...25,147,139
JBrowse link
G Insm1 insulinoma-associated 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23582323 NCBI chr 2:146,063,917...146,066,940
Ensembl chr 2:146,063,841...146,066,940
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 8:129,412,135...129,460,060
Ensembl chr 8:129,412,135...129,459,681
JBrowse link
G Kdm6a lysine (K)-specific demethylase 6A ISO DNA:mutations:multiple: (human) RGD PMID:31199602 RGD:150429733 NCBI chr  X:18,027,101...18,146,175
Ensembl chr  X:18,028,814...18,146,175
JBrowse link
G Khsrp KH-type splicing regulatory protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:22941189 NCBI chr17:57,328,049...57,338,507
Ensembl chr17:57,328,051...57,338,522
JBrowse link
G Kif21a kinesin family member 21A ISO CTD Direct Evidence: marker/mechanism CTD PMID:22941189 NCBI chr15:90,817,478...90,934,547
Ensembl chr15:90,817,479...90,934,151
JBrowse link
G Kit KIT proto-oncogene receptor tyrosine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:15499612 NCBI chr 5:75,735,647...75,817,382
Ensembl chr 5:75,735,576...75,817,382
JBrowse link
G Kmt2a lysine (K)-specific methyltransferase 2A ISO CTD Direct Evidence: marker/mechanism CTD PMID:22941188 NCBI chr 9:44,714,652...44,793,492
Ensembl chr 9:44,714,652...44,792,594
JBrowse link
G Kmt2d lysine (K)-specific methyltransferase 2D disease_progression ISO DNA:missense mutations, insertion/deletion:plasma RGD PMID:28007623 PMID:29748005 PMID:27873319 PMID:29627316 RGD:150523766, RGD:127285383, RGD:150523768, RGD:150523767 NCBI chr15:98,729,550...98,771,958
Ensembl chr15:98,729,550...98,769,085
JBrowse link
G Lama3 laminin, alpha 3 ISO DNA:hyper-methylation:promoter: RGD PMID:12855645 RGD:13793369 NCBI chr18:12,466,806...12,716,070
Ensembl chr18:12,466,876...12,716,070
JBrowse link
G Lamb3 laminin, beta 3 ISO DNA:hyper-methylation:promoter: RGD PMID:12855645 RGD:13793369 NCBI chr 1:192,976,661...193,026,186
Ensembl chr 1:192,890,007...193,026,186
JBrowse link
G Lamc2 laminin, gamma 2 ISO DNA:hyper-methylation:promoter: RGD PMID:12855645 RGD:13793369 NCBI chr 1:152,998,502...153,062,193
Ensembl chr 1:152,998,502...153,062,193
JBrowse link
G Lyrm9 LYR motif containing 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22941189 NCBI chr11:78,717,421...78,734,725
Ensembl chr11:78,717,410...78,737,696
JBrowse link
G Max Max protein ISO DNA:loss of heterozygosity:lung RGD PMID:24362264 RGD:13793386 NCBI chr12:76,984,043...77,009,123
Ensembl chr12:76,984,043...77,008,975
JBrowse link
G Mthfr methylenetetrahydrofolate reductase severity ISO protein:missense mutation:cds:p.A222V (human) RGD PMID:17533396 RGD:4891158 NCBI chr 4:148,123,534...148,144,019
Ensembl chr 4:148,123,534...148,144,008
JBrowse link
G Mtor mechanistic target of rapamycin kinase disease_progression ISO DNA:SNP: :rs2536(human) RGD PMID:28280736 RGD:13825123 NCBI chr 4:148,533,039...148,642,142
Ensembl chr 4:148,533,068...148,642,140
JBrowse link
G Myc myelocytomatosis oncogene disease_progression IMP RGD PMID:28089889 RGD:13793389 NCBI chr15:61,857,190...61,862,210
Ensembl chr15:61,857,240...61,862,223
JBrowse link
G Mycl v-myc avian myelocytomatosis viral oncogene lung carcinoma derived ISO CTD Direct Evidence: therapeutic CTD PMID:22941189 NCBI chr 4:122,889,381...122,896,283
Ensembl chr 4:122,889,445...122,896,278
JBrowse link
G Ndrg1 N-myc downstream regulated gene 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15341671 NCBI chr15:66,801,167...66,841,490
Ensembl chr15:66,801,167...66,841,489
JBrowse link
G Pbrm1 polybromo 1 disease_progression ISO RGD PMID:29748005 RGD:127285383 NCBI chr14:30,741,095...30,843,549
Ensembl chr14:30,741,095...30,843,549
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 More... NCBI chr 3:32,451,203...32,520,256
Ensembl chr 3:32,451,820...32,522,635
JBrowse link
G Pik3r1 phosphoinositide-3-kinase regulatory subunit 1 disease_progression ISO DNA:SNPs: :rs3756668,rs12755(human) RGD PMID:28280736 RGD:13825123 NCBI chr13:101,817,269...101,904,725
Ensembl chr13:101,817,071...101,904,725
JBrowse link
G Plscr4 phospholipid scramblase 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22941189 NCBI chr 9:92,339,427...92,374,569
Ensembl chr 9:92,339,426...92,374,509
JBrowse link
G Pten phosphatase and tensin homolog ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Small cell lung carcinoma
CTD
ClinVar
PMID:1945792 PMID:9467011 PMID:9915974 PMID:10866302 PMID:11504908 More... NCBI chr19:32,734,977...32,803,560
Ensembl chr19:32,734,897...32,803,560
JBrowse link
G Ptk2 PTK2 protein tyrosine kinase 2 disease_progression ISO DNA:CNV:: RGD PMID:21800286 PMID:20802517 RGD:13825133, RGD:13825141 NCBI chr15:73,076,951...73,297,192
Ensembl chr15:73,076,951...73,295,129
JBrowse link
G Rad52 RAD52 homolog, DNA repair protein susceptibility
treatment
ISO DNA:SNP:3'utr: (rs7963551) (human)
DNA:SNP: (rs10774474)(human)
RGD PMID:26629180 PMID:27531263 RGD:151660337, RGD:151660339 NCBI chr 6:119,878,781...119,899,789
Ensembl chr 6:119,879,659...119,899,789
JBrowse link
G Rarb retinoic acid receptor, beta ISO DNA:methylation: : RGD PMID:29851970 RGD:13825142 NCBI chr14:5,387,365...6,038,924
Ensembl chr14:5,650,540...6,038,924
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 6:145,692,292...145,766,805
Ensembl chr 6:145,692,474...145,766,805
JBrowse link
G Rb1 RB transcriptional corepressor 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Small cell lung carcinoma
CTD
ClinVar
PMID:1352883 PMID:2594029 PMID:7881418 PMID:9632788 PMID:9671401 More... NCBI chr14:73,430,298...73,563,446
Ensembl chr14:73,421,113...73,563,262
JBrowse link
G Rictor RPTOR independent companion of MTOR, complex 2 severity ISO associated with Neoplasm Metastasis; protein:increased expression:lung, lymph node (human) RGD PMID:31454632 RGD:152995447 NCBI chr15:6,737,827...6,829,882
Ensembl chr15:6,737,860...6,829,882
JBrowse link
G Rims2 regulating synaptic membrane exocytosis 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22941189 NCBI chr15:39,061,681...39,547,768
Ensembl chr15:39,061,656...39,547,768
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 1:56,833,140...57,019,407
Ensembl chr 1:56,833,140...57,017,809
JBrowse link
G Skp2 S-phase kinase-associated protein 2 ISO mRNA:increased expression:lung: RGD PMID:12107105 RGD:13825152 NCBI chr15:9,112,070...9,155,512
Ensembl chr15:9,112,073...9,155,512
JBrowse link
G Slit2 slit guidance ligand 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22941188 NCBI chr 5:48,138,633...48,465,077
Ensembl chr 5:48,140,480...48,465,075
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 9:21,527,377...21,615,526
Ensembl chr 9:21,527,465...21,615,526
JBrowse link
G Sox2 SRY (sex determining region Y)-box 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22941189 NCBI chr 3:34,704,144...34,706,610
Ensembl chr 3:34,704,554...34,706,610
JBrowse link
G Tmem132d transmembrane protein 132D ISO CTD Direct Evidence: marker/mechanism CTD PMID:22941189 NCBI chr 5:127,860,555...128,510,141
Ensembl chr 5:127,858,694...128,510,141
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 More... NCBI chr11:69,471,174...69,482,699
Ensembl chr11:69,471,185...69,482,699
JBrowse link
G Trp73 transformation related protein 73 ISO DNA:mutations:multiple: (human) RGD PMID:26168399 RGD:151347582 NCBI chr 4:154,140,706...154,224,332
Ensembl chr 4:154,140,706...154,224,665
JBrowse link
G Ttr transthyretin ISO protein:increased expression:lung (human) RGD PMID:26943652 RGD:151665207 NCBI chr18:20,797,266...20,807,383
Ensembl chr18:20,798,337...20,807,378
JBrowse link
G Xpo5 exportin 5 severity ISO DNA:snp, haplotype:3' utr:c.*659A>C (rs11077) (human) RGD PMID:24648983 RGD:11041738 NCBI chr17:46,513,737...46,554,524
Ensembl chr17:46,513,708...46,554,524
JBrowse link
G Zdbf2 zinc finger, DBF-type containing 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22941189 NCBI chr 1:63,239,517...63,353,735
Ensembl chr 1:63,312,424...63,353,735
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 chr17:56,632,975...56,710,774
Ensembl chr17:56,633,062...56,709,870
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 8:56,747,587...56,774,081
Ensembl chr 8:56,747,620...56,774,078
JBrowse link
G Ret ret proto-oncogene ISO CTD Direct Evidence: marker/mechanism CTD PMID:7915165 NCBI chr 6:118,128,709...118,174,705
Ensembl chr 6:118,128,706...118,174,679
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
RGD
PMID:7661930 PMID:17238184 RGD:6484523 NCBI chr18:34,353,350...34,455,243
Ensembl chr18:34,353,977...34,455,605
JBrowse link
G Arid1a AT rich interactive domain 1A (SWI-like) ISO ClinVar Annotator: match by term: Medulloblastoma ClinVar PMID:26822237 NCBI chr 4:133,406,319...133,484,682
Ensembl chr 4:133,406,319...133,484,080
JBrowse link
G Arid1b AT rich interactive domain 1B (SWI-like) ISO ClinVar Annotator: match by term: Medulloblastoma ClinVar PMID:25741868 PMID:26822237 NCBI chr17:5,044,481...5,397,931
Ensembl chr17:5,044,607...5,397,931
JBrowse link
G Atoh1 atonal bHLH transcription factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18347096 NCBI chr 6:64,706,109...64,708,229
Ensembl chr 6:64,706,109...64,708,229
JBrowse link
G Bap1 Brca1 associated protein 1 ISO ClinVar Annotator: match by term: Medulloblastoma ClinVar PMID:25741868 PMID:26719535 PMID:28492532 NCBI chr14:30,973,358...30,981,887
Ensembl chr14:30,973,407...30,981,901
JBrowse link
G Brca2 breast cancer 2, early onset ISO
IMP
ClinVar Annotator: match by term: Medulloblastoma | ClinVar Annotator: match by term: Medulloblastoma, somatic OMIM
ClinVar
RGD
PMID:8673090 PMID:9150172 PMID:9150174 PMID:9667259 PMID:9792861 More... RGD:11038793 NCBI chr 5:150,445,759...150,493,612
Ensembl chr 5:150,446,095...150,493,794
JBrowse link
G Brd2 bromodomain containing 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24231268 NCBI chr17:34,330,993...34,341,581
Ensembl chr17:34,330,997...34,341,608
JBrowse link
G Brd3 bromodomain containing 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24231268 NCBI chr 2:27,335,588...27,397,669
Ensembl chr 2:27,335,591...27,397,674
JBrowse link
G Brd4 bromodomain containing 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24231268 PMID:31594641 NCBI chr17:32,415,246...32,503,717
Ensembl chr17:32,415,248...32,503,696
JBrowse link
G Ccnd1 cyclin D1 IMP RGD PMID:16943274 RGD:13681932 NCBI chr 7:144,483,668...144,493,568
Ensembl chr 7:144,483,668...144,493,662
JBrowse link
G Ccne1 cyclin E1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19270706 NCBI chr 7:37,797,409...37,806,915
Ensembl chr 7:37,797,409...37,806,959
JBrowse link
G Cdk6 cyclin-dependent kinase 6 disease_progression ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:19270706 PMID:23138228 PMID:16314645 RGD:13702096 NCBI chr 5:3,391,004...3,581,008
Ensembl chr 5:3,391,485...3,581,008
JBrowse link
G Cdk9 cyclin-dependent kinase 9 (CDC2-related kinase) ISO CTD Direct Evidence: marker/mechanism CTD PMID:31594641 NCBI chr 2:32,595,794...32,608,098
Ensembl chr 2:32,595,796...32,603,088
JBrowse link
G Crebbp CREB binding protein ISO ClinVar Annotator: match by term: Medulloblastoma, somatic ClinVar PMID:21390126 PMID:21680795 PMID:21796119 PMID:22832583 PMID:23334668 More... NCBI chr16:3,899,198...4,031,864
Ensembl chr16:3,899,192...4,031,861
JBrowse link
G Ctnnb1 catenin (cadherin associated protein), beta 1 ISO ClinVar Annotator: match by term: Medulloblastoma | ClinVar Annotator: match by term: Medulloblastoma, somatic OMIM
ClinVar
PMID:9065402 PMID:9065403 PMID:9294210 PMID:9927029 PMID:10027390 More... NCBI chr 9:120,762,466...120,789,573
Ensembl chr 9:120,758,282...120,789,573
JBrowse link
G Ddx3x DEAD box helicase 3, X-linked ISO ClinVar Annotator: match by term: Medulloblastoma ClinVar PMID:26822237 NCBI chr  X:13,147,261...13,160,222
Ensembl chr  X:13,147,209...13,160,291
JBrowse link
G Dicer1 dicer 1, ribonuclease type III ISO ClinVar Annotator: match by term: Medulloblastoma ClinVar PMID:25741868 NCBI chr12:104,653,999...104,718,227
Ensembl chr12:104,654,001...104,718,211
JBrowse link
G Dnmt1 DNA methyltransferase (cytosine-5) 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19155313 NCBI chr 9:20,818,501...20,871,184
Ensembl chr 9:20,818,505...20,871,184
JBrowse link
G Ehmt1 euchromatic histone methyltransferase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19270706 NCBI chr 2:24,680,781...24,809,658
Ensembl chr 2:24,679,940...24,809,626
JBrowse link
G Elp1 elongator complex protein 1 ISO ClinVar Annotator: match by term: Medulloblastoma OMIM
ClinVar
PMID:25741868 PMID:28492532 PMID:32296180 NCBI chr 4:56,746,547...56,802,565
Ensembl chr 4:56,749,680...56,802,331
JBrowse link
G Ep300 E1A binding protein p300 ISO ClinVar Annotator: match by term: Medulloblastoma ClinVar PMID:26619011 NCBI chr15:81,470,329...81,536,278
Ensembl chr15:81,469,552...81,536,278
JBrowse link
G Erbb2 erb-b2 receptor tyrosine kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20168248 NCBI chr11:98,303,310...98,328,542
Ensembl chr11:98,303,296...98,328,542
JBrowse link
G Esr2 estrogen receptor 2 (beta) ISO CTD Direct Evidence: therapeutic CTD PMID:21351254 NCBI chr12:76,167,193...76,224,033
Ensembl chr12:76,167,193...76,224,033
JBrowse link
G Fbxw7 F-box and WD-40 domain protein 7 ISO ClinVar Annotator: match by term: Medulloblastoma, somatic ClinVar PMID:26619011 NCBI chr 3:84,721,901...84,886,505
Ensembl chr 3:84,722,575...84,886,505
JBrowse link
G Fgfr1 fibroblast growth factor receptor 1 ISO ClinVar Annotator: match by term: Medulloblastoma ClinVar PMID:10766980 PMID:23819449 PMID:25705862 PMID:25741868 PMID:26619011 More... NCBI chr 8:26,008,775...26,065,734
Ensembl chr 8:26,003,670...26,065,734
JBrowse link
G Fli1 Friend leukemia integration 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19270706 NCBI chr 9:32,333,500...32,454,728
Ensembl chr 9:32,333,500...32,454,157
JBrowse link
G Foxo3 forkhead box O3 ISO ClinVar Annotator: match by term: Medulloblastoma ClinVar PMID:26822237 NCBI chr10:42,057,841...42,152,691
Ensembl chr10:42,057,837...42,152,751
JBrowse link
G Gstm1 glutathione S-transferase, mu 1 ISO DNA:deletion: : RGD PMID:18952980 RGD:5490237 NCBI chr 3:107,919,566...107,925,289
Ensembl chr 3:107,919,571...107,925,289
JBrowse link
G Gstt1 glutathione S-transferase, theta 1 ISO DNA:deletion: : RGD PMID:18952980 RGD:5490237 NCBI chr10:75,619,647...75,634,418
Ensembl chr10:75,619,647...75,634,418
JBrowse link
G Hic1 hypermethylated in cancer 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18347096 NCBI chr11:75,052,203...75,061,081
Ensembl chr11:75,055,391...75,060,345
JBrowse link
G Idh1 isocitrate dehydrogenase 1 (NADP+), soluble ISO ClinVar Annotator: match by term: Medulloblastoma, somatic ClinVar PMID:18772396 PMID:19657110 PMID:19798509 PMID:19818334 PMID:20946881 More... NCBI chr 1:65,197,775...65,225,638
Ensembl chr 1:65,197,775...65,225,659
JBrowse link
G Ifng interferon gamma IEA OMIM:155255 MouseDO NCBI chr10:118,276,951...118,281,799
Ensembl chr10:118,276,951...118,281,797
JBrowse link
G Irs2 insulin receptor substrate 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19270706 NCBI chr 8:11,034,681...11,058,929
Ensembl chr 8:11,034,681...11,058,458
JBrowse link
G Kat6a K(lysine) acetyltransferase 6A ISO CTD Direct Evidence: marker/mechanism CTD PMID:19270706 NCBI chr 8:23,349,458...23,433,275
Ensembl chr 8:23,349,551...23,433,275
JBrowse link
G Kdm4b lysine (K)-specific demethylase 4B ISO mRNA:increased expression:brain (human)
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:19270706 PMID:19270706 RGD:9587481 NCBI chr17:56,632,975...56,710,774
Ensembl chr17:56,633,062...56,709,870
JBrowse link
G Kdm4c lysine (K)-specific demethylase 4C ISO mRNA:increased expression:brain (human)
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:19270706 PMID:19270706 RGD:9587481 NCBI chr 4:74,160,734...74,324,101
Ensembl chr 4:74,160,734...74,324,097
JBrowse link
G L3mbtl2 L3MBTL2 polycomb repressive complex 1 subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:19270706 NCBI chr15:81,548,090...81,572,516
Ensembl chr15:81,548,090...81,572,516
JBrowse link
G L3mbtl3 L3MBTL3 histone methyl-lysine binding protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:19270706 NCBI chr10:26,150,361...26,252,426
Ensembl chr10:26,150,366...26,251,967
JBrowse link
G Mpl myeloproliferative leukemia virus oncogene ISO CTD Direct Evidence: marker/mechanism CTD PMID:19270706 NCBI chr 4:118,299,609...118,314,771
Ensembl chr 4:118,299,612...118,314,710
JBrowse link
G Myc myelocytomatosis oncogene ISO CTD Direct Evidence: marker/mechanism CTD PMID:19270706 PMID:31694585 NCBI chr15:61,857,190...61,862,210
Ensembl chr15:61,857,240...61,862,223
JBrowse link
G Mycl v-myc avian myelocytomatosis viral oncogene lung carcinoma derived ISO CTD Direct Evidence: marker/mechanism CTD PMID:19270706 NCBI chr 4:122,889,381...122,896,283
Ensembl chr 4:122,889,445...122,896,278
JBrowse link
G Mycn v-myc avian myelocytomatosis viral related oncogene, neuroblastoma derived ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Medulloblastoma
CTD
ClinVar
PMID:19270706 PMID:26619011 NCBI chr12:12,986,094...12,991,837
Ensembl chr12:12,986,094...12,991,915
JBrowse link
G Nono non-POU-domain-containing, octamer binding protein ISO ClinVar Annotator: match by term: Medulloblastoma ClinVar PMID:26822237 NCBI chr  X:100,473,080...100,492,199
Ensembl chr  X:100,472,924...100,492,197
JBrowse link
G Nras neuroblastoma ras oncogene ISO ClinVar Annotator: match by term: Medulloblastoma, somatic ClinVar PMID:2407301 PMID:2674680 PMID:2989702 PMID:3102434 PMID:8120410 More... NCBI chr 3:102,965,601...102,975,230
Ensembl chr 3:102,965,601...102,975,230
JBrowse link
G Otx2 orthodenticle homeobox 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19270706 NCBI chr14:48,894,238...48,905,101
Ensembl chr14:48,895,134...48,911,276
JBrowse link
G Pdgfra platelet derived growth factor receptor, alpha polypeptide severity ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:19270706 PMID:25576913 RGD:13702904 NCBI chr 5:75,311,988...75,358,867
Ensembl chr 5:75,312,953...75,358,876
JBrowse link
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha ISO ClinVar Annotator: match by term: Medulloblastoma | ClinVar Annotator: match by term: Medulloblastoma, somatic ClinVar PMID:15016963 PMID:15254419 PMID:15520168 PMID:15608678 PMID:15647370 More... NCBI chr 3:32,451,203...32,520,256
Ensembl chr 3:32,451,820...32,522,635
JBrowse link
G Pik3cg phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma ISO CTD Direct Evidence: marker/mechanism CTD PMID:21652733 NCBI chr12:32,223,128...32,258,675
Ensembl chr12:32,223,472...32,258,658
JBrowse link
G Pramex1 PRAME like, X-linked 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16179254 NCBI chr  X:134,513,662...134,528,454
Ensembl chr  X:134,513,751...134,528,454
JBrowse link
G Prkar1a protein kinase, cAMP dependent regulatory, type I, alpha ISO ClinVar Annotator: match by term: Medulloblastoma ClinVar PMID:26822237 PMID:28492532 NCBI chr11:109,539,849...109,560,489
Ensembl chr11:109,540,231...109,560,482
JBrowse link
G Prmt5 protein arginine N-methyltransferase 5 ISO CTD Direct Evidence: therapeutic CTD PMID:31694585 NCBI chr14:54,744,639...54,754,927
Ensembl chr14:54,744,644...54,754,982
JBrowse link
G Ptch1 patched 1 ISO
IMP
IEA
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Medulloblastoma
OMIM:155255
CTD
ClinVar
MouseDO
RGD
PMID:16301862 PMID:16419085 PMID:18347096 PMID:19155313 PMID:19213072 More... RGD:150523834 NCBI chr13:63,656,142...63,721,274
Ensembl chr13:63,656,142...63,721,412
JBrowse link
G Ptch2 patched 2 ISO OMIM NCBI chr 4:116,953,253...116,973,298
Ensembl chr 4:116,953,272...116,973,298
JBrowse link
G Rassf1 Ras association (RalGDS/AF-6) domain family member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21880625 NCBI chr 9:107,428,633...107,439,466
Ensembl chr 9:107,428,754...107,439,466
JBrowse link
G Rb1 RB transcriptional corepressor 1 IGI
ISO
ClinVar Annotator: match by term: Medulloblastoma ClinVar
RGD
PMID:25741868 PMID:28492532 PMID:10783170 RGD:1302544 NCBI chr14:73,430,298...73,563,446
Ensembl chr14:73,421,113...73,563,262
JBrowse link
G Ret ret proto-oncogene ISO ClinVar Annotator: match by term: Medulloblastoma ClinVar PMID:11436122 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 6:118,128,709...118,174,705
Ensembl chr 6:118,128,706...118,174,679
JBrowse link
G S100a10 S100 calcium binding protein A10 (calpactin) ISO CTD Direct Evidence: marker/mechanism CTD PMID:17579622 NCBI chr 3:93,462,424...93,471,952
Ensembl chr 3:93,462,387...93,471,950
JBrowse link
G S100a4 S100 calcium binding protein A4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17579622 NCBI chr 3:90,511,077...90,513,352
Ensembl chr 3:90,511,078...90,513,352
JBrowse link
G S100a6 S100 calcium binding protein A6 (calcyclin) ISO CTD Direct Evidence: marker/mechanism CTD PMID:17579622 NCBI chr 3:90,520,201...90,521,721
Ensembl chr 3:90,520,189...90,531,488
JBrowse link
G Scg5 secretogranin V ISO CTD Direct Evidence: marker/mechanism CTD PMID:17334394 NCBI chr 2:113,606,658...113,659,436
Ensembl chr 2:113,606,707...113,659,466
JBrowse link
G Scml2 Scm polycomb group protein like 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19270706 NCBI chr  X:159,865,521...160,041,214
Ensembl chr  X:159,865,521...160,041,209
JBrowse link
G Sf3b2 splicing factor 3b, subunit 2 ISO ClinVar Annotator: match by term: Medulloblastoma ClinVar PMID:26619011 NCBI chr19:5,323,949...5,345,485
Ensembl chr19:5,323,960...5,345,483
JBrowse link
G Skp2 S-phase kinase-associated protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19270706 NCBI chr15:9,112,070...9,155,512
Ensembl chr15:9,112,073...9,155,512
JBrowse link
G Smarca4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 ISO ClinVar Annotator: match by term: Medulloblastoma ClinVar PMID:26822237 NCBI chr 9:21,527,377...21,615,526
Ensembl chr 9:21,527,465...21,615,526
JBrowse link
G Smo smoothened, frizzled class receptor treatment ISO
IMP
IEA
ClinVar Annotator: match by term: Medulloblastoma
OMIM:155255
ClinVar
MouseDO
RGD
PMID:19726788 PMID:22679179 PMID:25759020 PMID:22084163 RGD:150521622 NCBI chr 6:29,735,496...29,761,365
Ensembl chr 6:29,735,502...29,761,364
JBrowse link
G Smyd4 SET and MYND domain containing 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19270706 NCBI chr11:75,239,259...75,296,533
Ensembl chr11:75,239,259...75,296,531
JBrowse link
G Stat3 signal transducer and activator of transcription 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19001435 NCBI chr11:100,777,632...100,830,447
Ensembl chr11:100,775,924...100,830,366
JBrowse link
G Strada STE20-related kinase adaptor alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:21652733 NCBI chr11:106,053,800...106,084,460
Ensembl chr11:106,054,156...106,092,994
JBrowse link
G Sufu SUFU negative regulator of hedgehog signaling ISO ClinVar Annotator: match by term: Medulloblastoma | ClinVar Annotator: match by term: Medulloblastoma with extensive nodularity | ClinVar Annotator: match by term: Medulloblastoma, desmoplastic | ClinVar Annotator: match by term: Medulloblastoma, somatic
protein:increased expression:brain (rat)
OMIM
ClinVar
RGD
PMID:12068298 PMID:16199547 PMID:17102621 PMID:19533801 PMID:19833601 More... RGD:150573693 NCBI chr19:46,385,335...46,477,243
Ensembl chr19:46,385,335...46,477,243
JBrowse link
G Trp53 transformation related protein 53 disease_progression ISO
IGI
protein:increased expression:nucleus:
ClinVar Annotator: match by term: Medulloblastoma, somatic
ClinVar
RGD
PMID:1359493 PMID:1565143 PMID:1565144 PMID:1631137 PMID:1644930 More... RGD:8547823, RGD:1302544 NCBI chr11:69,471,174...69,482,699
Ensembl chr11:69,471,185...69,482,699
JBrowse link
G Tsc2 TSC complex subunit 2 ISO DNA:polymorphism:intron RGD PMID:11603814 RGD:11072879 NCBI chr17:24,814,790...24,851,607
Ensembl chr17:24,814,790...24,851,604
JBrowse link
G Vav1 vav 1 oncogene ISO CTD Direct Evidence: marker/mechanism CTD PMID:19270706 NCBI chr17:57,586,080...57,636,236
Ensembl chr17:57,586,100...57,635,031
JBrowse link
G Wrn Werner syndrome RecQ like helicase ISO ClinVar Annotator: match by term: Medulloblastoma ClinVar PMID:8968742 PMID:9225981 PMID:16673358 PMID:16786514 PMID:20301687 More... NCBI chr 8:33,724,400...33,875,591
Ensembl chr 8:33,724,412...33,875,555
JBrowse link
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 2:154,792,519...154,892,932
Ensembl chr 2:154,633,322...154,892,932
Ensembl chr 2:154,633,322...154,892,932
JBrowse link
G Abcb5 ATP-binding cassette, sub-family B (MDR/TAP), member 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15899824 NCBI chr12:118,831,221...118,930,169
Ensembl chr12:118,831,559...118,930,156
JBrowse link
G Acer3 alkaline ceramidase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr 7:97,863,015...97,970,415
Ensembl chr 7:97,855,596...97,970,415
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 chr15:94,166,177...94,329,966
Ensembl chr15:94,168,044...94,363,299
JBrowse link
G Ager advanced glycosylation end product-specific receptor treatment ISO RGD PMID:15009731 RGD:8695970 NCBI chr17:34,816,545...34,819,911
Ensembl chr17:34,816,836...34,819,910
JBrowse link
G AI837181 expressed sequence AI837181 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr19:5,475,172...5,477,345
Ensembl chr19:5,475,172...5,477,341
JBrowse link
G Akr1b10 aldo-keto reductase family 1, member B10 (aldose reductase) ISO CTD Direct Evidence: marker/mechanism CTD PMID:21499247 NCBI chr 6:34,361,182...34,373,884
Ensembl chr 6:34,361,153...34,373,885
JBrowse link
G Akt1 thymoma viral proto-oncogene 1 ISO ClinVar Annotator: match by term: Malignant melanoma, somatic | ClinVar Annotator: match by term: Melanoma ClinVar PMID:17611497 PMID:18256540 PMID:18392055 PMID:18504432 PMID:18611285 More... NCBI chr12:112,620,255...112,641,318
Ensembl chr12:112,620,255...112,641,318
JBrowse link
G Aldh1a1 aldehyde dehydrogenase family 1, subfamily A1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:31580832 NCBI chr19:20,469,947...20,620,827
Ensembl chr19:20,470,079...20,620,829
JBrowse link
G Aldh1a3 aldehyde dehydrogenase family 1, subfamily A3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:31580832 NCBI chr 7:66,040,640...66,077,225
Ensembl chr 7:66,040,638...66,077,265
JBrowse link
G Amigo2 adhesion molecule with Ig like domain 2 treatment IMP RGD PMID:26553931 RGD:14392781 NCBI chr15:97,141,955...97,145,168
Ensembl chr15:97,142,006...97,145,168
JBrowse link
G Apex1 apurinic/apyrimidinic endonuclease 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16373707 NCBI chr14:51,162,406...51,164,645
Ensembl chr14:51,162,425...51,164,596
JBrowse link
G Arl2 ADP-ribosylation factor-like 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr19:6,184,419...6,191,167
Ensembl chr19:6,184,404...6,191,578
JBrowse link
G Arl5b ADP-ribosylation factor-like 5B ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr 2:15,060,066...15,087,267
Ensembl chr 2:15,054,206...15,087,267
JBrowse link
G Arnt aryl hydrocarbon receptor nuclear translocator ISO CTD Direct Evidence: marker/mechanism CTD PMID:21983785 NCBI chr 3:95,341,674...95,404,551
Ensembl chr 3:95,341,699...95,404,551
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 1:74,275,656...74,307,368
Ensembl chr 1:74,275,243...74,307,368
JBrowse link
G Asf1a anti-silencing function 1A histone chaperone ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr10:53,473,057...53,485,321
Ensembl chr10:53,472,853...53,485,321
JBrowse link
G Ass1 argininosuccinate synthetase 1 ISO RGD PMID:12359751 RGD:4140479 NCBI chr 2:31,360,282...31,410,682
Ensembl chr 2:31,360,219...31,410,684
JBrowse link
G Atm ataxia telangiectasia mutated ISO CTD Direct Evidence: marker/mechanism CTD PMID:21983787 NCBI chr 9:53,348,422...53,448,125
Ensembl chr 9:53,350,449...53,448,040
JBrowse link
G Atrx ATRX, chromatin remodeler disease_progression ISO protein:decreased expression:skin: RGD PMID:24468746 RGD:9586028 NCBI chr  X:104,841,221...104,972,978
Ensembl chr  X:104,841,221...104,973,009
JBrowse link
G Aurka aurora kinase A ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr 2:172,198,110...172,212,820
Ensembl chr 2:172,198,110...172,212,455
JBrowse link
G B2m beta-2 microglobulin ISO ClinVar Annotator: match by term: Malignant melanoma, somatic ClinVar PMID:26619011 NCBI chr 2:121,978,168...121,983,563
Ensembl chr 2:121,978,167...121,983,564
JBrowse link
G Batf2 basic leucine zipper transcription factor, ATF-like 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr19:6,214,424...6,222,506
Ensembl chr19:6,191,013...6,222,506
JBrowse link
G Bcl2 B cell leukemia/lymphoma 2 severity ISO protein:increased expression:lymph node (human) RGD PMID:8783649 RGD:11526106 NCBI chr 1:106,465,906...106,642,020
Ensembl chr 1:106,465,908...106,642,004
JBrowse link
G Bcl2l1 BCL2-like 1 disease_progression ISO protein:increased expression:skin, subcutaneous tissue (human) RGD PMID:17384650 RGD:11353861 NCBI chr 2:152,600,652...152,675,723
Ensembl chr 2:152,622,588...152,673,648
JBrowse link
G Bcl2l12 BCL2-like 12 (proline rich) ISO ClinVar Annotator: match by term: Malignant melanoma, somatic ClinVar PMID:26619011 NCBI chr 7:44,640,646...44,647,024
Ensembl chr 7:44,640,646...44,648,136
JBrowse link
G Bmp4 bone morphogenetic protein 4 susceptibility ISO DNA:SNP:cds:6007C>T (rs17563)(human) RGD PMID:19557432 RGD:9068447 NCBI chr14:46,620,982...46,628,126
Ensembl chr14:46,620,977...46,628,126
JBrowse link
G Braf Braf transforming gene treatment
onset
ISO
IEA
ClinVar Annotator: match by term: Malignant melanoma, somatic | ClinVar Annotator: match by term: Melanoma
associated with Neoplasm Metastasis; DNA:mutation:multiple (human)
CTD Direct Evidence: marker/mechanism
DNA:mutations: :
ClinVar
CTD
MouseDO
RGD
PMID:2493360 PMID:2872605 PMID:8042262 PMID:12068308 PMID:12198537 More... RGD:1580103, RGD:151660349, RGD:11567267, RGD:11567259 NCBI chr 6:39,580,171...39,702,592
Ensembl chr 6:39,580,171...39,702,397
JBrowse link
G Brca2 breast cancer 2, early onset susceptibility ISO DNA:polymorphism:cds:p.N991D(human)
ClinVar Annotator: match by term: Melanoma
ClinVar
RGD
PMID:25741868 PMID:28492532 PMID:18024013 RGD:9068469 NCBI chr 5:150,445,759...150,493,612
Ensembl chr 5:150,446,095...150,493,794
JBrowse link
G Brd2 bromodomain containing 2 ISO protein:mRNA:skin: RGD PMID:23950209 RGD:9586346 NCBI chr17:34,330,993...34,341,581
Ensembl chr17:34,330,997...34,341,608
JBrowse link
G Brd4 bromodomain containing 4 ISO protein:mRNA:skin: RGD PMID:23950209 RGD:9586346 NCBI chr17:32,415,246...32,503,717
Ensembl chr17:32,415,248...32,503,696
JBrowse link
G Bzw1 basic leucine zipper and W2 domains 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr 1:58,432,057...58,446,513
Ensembl chr 1:58,432,057...58,446,512
JBrowse link
G C3 complement component 3 treatment IEP RGD PMID:17146472 RGD:7401279 NCBI chr17:57,510,967...57,535,136
Ensembl chr17:57,510,970...57,535,136
JBrowse link
G Capn1 calpain 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr19:6,038,573...6,065,855
Ensembl chr19:6,038,573...6,065,927
JBrowse link
G Casp8 caspase 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18563783 PMID:21983787 NCBI chr 1:58,834,398...58,886,662
Ensembl chr 1:58,834,533...58,886,662
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 2:103,284,249...103,315,498
Ensembl chr 2:103,284,194...103,315,505
JBrowse link
G Cav1 caveolin 1, caveolae protein disease_progression ISO RGD PMID:22134245 RGD:8661767 NCBI chr 6:17,306,287...17,341,327
Ensembl chr 6:17,306,334...17,341,451
JBrowse link
G Cbs cystathionine beta-synthase ISO CTD Direct Evidence: marker/mechanism CTD PMID:25205294 NCBI chr17:31,831,597...31,856,207
Ensembl chr17:31,827,868...31,856,212
JBrowse link
G Ccdc63 coiled-coil domain containing 63 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21499247 NCBI chr 5:122,246,115...122,276,143
Ensembl chr 5:122,246,103...122,278,886
JBrowse link
G Cd40 CD40 antigen treatment IMP
ISO
RGD PMID:22421945 PMID:17327609 RGD:11522740, RGD:11522745 NCBI chr 2:164,897,535...164,913,574
Ensembl chr 2:164,897,547...164,914,868
JBrowse link
G Cdk2 cyclin-dependent kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21559390 NCBI chr10:128,533,807...128,540,920
Ensembl chr10:128,533,808...128,540,900
JBrowse link
G Cdk4 cyclin-dependent kinase 4 ISO ClinVar Annotator: match by term: Melanoma ClinVar PMID:5377176 PMID:7652577 PMID:8528263 PMID:8968104 PMID:9228064 More... NCBI chr10:126,899,404...126,903,157
Ensembl chr10:126,899,403...126,903,789
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 chr17:29,309,953...29,319,696
Ensembl chr17:29,309,950...29,319,701
JBrowse link
G Cdkn1c cyclin-dependent kinase inhibitor 1C (P57) ISO CTD Direct Evidence: marker/mechanism CTD PMID:17145863 NCBI chr 7:143,012,076...143,014,802
Ensembl chr 7:143,012,076...143,014,787
JBrowse link
G Cdkn2a cyclin dependent kinase inhibitor 2A susceptibility ISO
IMP
DNA:point mutation, insertion:exon
ClinVar Annotator: match by term: Malignant melanoma, somatic | ClinVar Annotator: match by term: Melanoma
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
RGD
PMID:7566978 PMID:7647780 PMID:7666917 PMID:7777061 PMID:7780957 More... RGD:1600812, RGD:8552300 NCBI chr 4:89,192,710...89,212,856
Ensembl chr 4:89,192,708...89,212,890
JBrowse link
G Chil1 chitinase-like 1 severity ISO protein:increased secretion:serum (human) RGD PMID:16456816 RGD:4892643 NCBI chr 1:134,109,894...134,117,769
Ensembl chr 1:134,109,914...134,117,919
JBrowse link
G Clns1a chloride channel, nucleotide-sensitive, 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr 7:97,345,864...97,370,000
Ensembl chr 7:97,345,841...97,370,003
JBrowse link
G Clu clusterin ISO CTD Direct Evidence: therapeutic CTD PMID:15955107 NCBI chr14:66,205,932...66,218,997
Ensembl chr14:66,205,932...66,218,996
JBrowse link
G Cnnm1 cyclin M1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16778180 NCBI chr19:43,427,508...43,485,649
Ensembl chr19:43,428,875...43,485,649
JBrowse link
G Col2a1 collagen, type II, alpha 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16778180 NCBI chr15:97,873,483...97,902,722
Ensembl chr15:97,873,483...97,902,576
JBrowse link
G Cp ceruloplasmin ISO CTD Direct Evidence: marker/mechanism CTD PMID:23792645 NCBI chr 3:20,011,097...20,063,914
Ensembl chr 3:20,011,218...20,063,309
JBrowse link
G Cpt1c carnitine palmitoyltransferase 1c ISO CTD Direct Evidence: marker/mechanism CTD PMID:16778180 NCBI chr 7:44,607,907...44,624,304
Ensembl chr 7:44,608,796...44,624,275
JBrowse link
G Crebbp CREB binding protein ISO ClinVar Annotator: match by term: Malignant melanoma, somatic ClinVar PMID:21390126 PMID:21680795 PMID:21796119 PMID:22832583 PMID:23334668 More... NCBI chr16:3,899,198...4,031,864
Ensembl chr16:3,899,192...4,031,861
JBrowse link
G Crnkl1 crooked neck pre-mRNA splicing factor 1 ISO ClinVar Annotator: match by term: Malignant melanoma, somatic ClinVar PMID:26619011 NCBI chr 2:145,759,402...145,776,620
Ensembl chr 2:145,759,399...145,776,934
JBrowse link
G Crybg1 crystallin beta-gamma domain containing 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22402438 NCBI chr10:43,826,303...44,024,824
Ensembl chr10:43,826,632...44,024,849
JBrowse link
G Csf2 colony stimulating factor 2 (granulocyte-macrophage) ISO CTD Direct Evidence: therapeutic CTD PMID:11061616 NCBI chr11:54,138,096...54,140,725
Ensembl chr11:54,138,097...54,140,493
JBrowse link
G Csf3 colony stimulating factor 3 (granulocyte) ISO CTD Direct Evidence: therapeutic CTD PMID:16120623 PMID:16260693 NCBI chr11:98,591,287...98,594,457
Ensembl chr11:98,592,089...98,594,455
JBrowse link
G Cst6 cystatin E/M ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr19:5,394,733...5,399,602
Ensembl chr19:5,394,733...5,399,602
JBrowse link
G Cth cystathionase (cystathionine gamma-lyase) ISO CTD Direct Evidence: marker/mechanism CTD PMID:25205294 NCBI chr 3:157,599,885...157,630,718
Ensembl chr 3:157,599,885...157,630,714
JBrowse link
G Ctla4 cytotoxic T-lymphocyte-associated protein 4 treatment ISO DNA:SNPs: :-11577G>A,rs3087243(human)
CTD Direct Evidence: therapeutic
CTD
RGD
PMID:21802280 PMID:23641913 RGD:7411681 NCBI chr 1:60,948,184...60,954,991
Ensembl chr 1:60,926,159...60,954,991
JBrowse link
G Ctnnb1 catenin (cadherin associated protein), beta 1 ISO 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 More... NCBI chr 9:120,762,466...120,789,573
Ensembl chr 9:120,758,282...120,789,573
JBrowse link
G Cubn cubilin (intrinsic factor-cobalamin receptor) ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr 2:13,281,149...13,496,687
Ensembl chr 2:13,281,149...13,496,624
JBrowse link
G Cul3 cullin 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr 1:80,242,640...80,318,407
Ensembl chr 1:80,242,640...80,318,197
JBrowse link
G Cyp1b1 cytochrome P450, family 1, subfamily b, polypeptide 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17145863 NCBI chr17:80,014,369...80,022,490
Ensembl chr17:80,008,966...80,022,490
JBrowse link
G Dcbld1 discoidin, CUB and LCCL domain containing 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr10:52,109,674...52,197,474
Ensembl chr10:52,109,715...52,197,474
JBrowse link
G Dcc deleted in colorectal carcinoma ISO CTD Direct Evidence: marker/mechanism CTD PMID:22842228 NCBI chr18:71,386,703...72,484,299
Ensembl chr18:71,386,705...72,484,140
JBrowse link
G Ddit4l DNA-damage-inducible transcript 4-like ISO CTD Direct Evidence: marker/mechanism CTD PMID:16778180 NCBI chr 3:137,329,433...137,334,093
Ensembl chr 3:137,327,373...137,334,094
JBrowse link
G Ddr2 discoidin domain receptor family, member 2 ameliorates IAGP DNA:deletion:exons: RGD PMID:24293323 RGD:150429711 NCBI chr 1:169,799,874...169,938,525
Ensembl chr 1:169,799,876...169,938,331
JBrowse link
G Dlg2 discs large MAGUK scaffold protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr 7:90,125,399...92,098,454
Ensembl chr 7:90,125,880...92,098,455
JBrowse link
G Dnajc1 DnaJ heat shock protein family (Hsp40) member C1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr 2:18,210,445...18,402,025
Ensembl chr 2:18,200,465...18,397,641
JBrowse link
G Dnajc15 DnaJ heat shock protein family (Hsp40) member C15 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17145863 NCBI chr14:78,063,657...78,112,357
Ensembl chr14:78,058,121...78,112,565
JBrowse link
G Drap1 Dr1 associated protein 1 (negative cofactor 2 alpha) ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr19:5,472,832...5,475,007
Ensembl chr19:5,472,833...5,475,007
JBrowse link
G Dsc1 desmocollin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22197931 NCBI chr18:20,216,528...20,247,830
Ensembl chr18:20,217,241...20,247,928
JBrowse link
G E2f1 E2F transcription factor 1 ISO CTD Direct Evidence: marker/mechanism|therapeutic CTD PMID:15574415 PMID:16827129 NCBI chr 2:154,401,320...154,411,812
Ensembl chr 2:154,401,327...154,411,812
JBrowse link
G Echdc1 enoyl Coenzyme A hydratase domain containing 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr10:29,174,140...29,222,657
Ensembl chr10:29,189,162...29,223,465
JBrowse link
G Eda ectodysplasin-A ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr  X:99,019,212...99,444,366
Ensembl chr  X:99,019,212...99,444,368
JBrowse link
G Ehmt2 euchromatic histone lysine N-methyltransferase 2 disease_progression ISO RGD PMID:24658378 RGD:9590069 NCBI chr17:35,117,426...35,133,049
Ensembl chr17:35,117,445...35,133,028
JBrowse link
G Eif1ad eukaryotic translation initiation factor 1A domain containing ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr19:5,416,841...5,421,546
Ensembl chr19:5,416,769...5,421,554
JBrowse link
G Eln elastin disease_progression ISO associated with Nevus, Pigmented; RGD PMID:11979070 PMID:19032378 RGD:9585752, RGD:9585768 NCBI chr 5:134,731,449...134,776,300
Ensembl chr 5:134,731,447...134,776,177
JBrowse link
G Eng endoglin treatment IMP RGD PMID:23076642 RGD:7248785 NCBI chr 2:32,536,607...32,572,681
Ensembl chr 2:32,536,607...32,572,681
JBrowse link
G Ep300 E1A binding protein p300 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23698071 NCBI chr15:81,470,329...81,536,278
Ensembl chr15:81,469,552...81,536,278
JBrowse link
G Epb41 erythrocyte membrane protein band 4.1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17145863 NCBI chr 4:131,650,724...131,802,824
Ensembl chr 4:131,650,724...131,802,632
JBrowse link
G Ephx3 epoxide hydrolase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16778180 NCBI chr17:32,402,744...32,408,444
Ensembl chr17:32,402,744...32,408,523
JBrowse link
G Epo erythropoietin ISO CTD Direct Evidence: marker/mechanism CTD PMID:15743794 NCBI chr 5:137,481,282...137,484,078
Ensembl chr 5:137,481,282...137,531,504
JBrowse link
G Epor erythropoietin receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:21860424 NCBI chr 9:21,870,193...21,874,915
Ensembl chr 9:21,870,193...21,874,802
JBrowse link
G Erbb2 erb-b2 receptor tyrosine kinase 2 ISO ClinVar Annotator: match by term: Malignant melanoma, somatic ClinVar PMID:18413839 PMID:22046346 PMID:23220880 PMID:25157968 PMID:26619011 NCBI chr11:98,303,310...98,328,542
Ensembl chr11:98,303,296...98,328,542
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 1:68,071,063...69,147,756
Ensembl chr 1:68,071,345...69,147,218
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 7:19,075,769...19,090,449
Ensembl chr 7:19,078,703...19,090,449
JBrowse link
G Ercc2 excision repair cross-complementing rodent repair deficiency, complementation group 2 disease_progression ISO DNA:polymorphism:exon:p.K751Q(human) RGD PMID:21390047 RGD:12880434 NCBI chr 7:19,115,942...19,129,619
Ensembl chr 7:19,115,935...19,129,619
JBrowse link
G Ercc5 excision repair cross-complementing rodent repair deficiency, complementation group 5 disease_progression ISO DNA:polymorphism:exon:p.D1104H(human) RGD PMID:21390047 RGD:12880434 NCBI chr 1:44,184,084...44,220,420
Ensembl chr 1:44,186,904...44,220,420
JBrowse link
G Esr1 estrogen receptor 1 (alpha) severity ISO RGD PMID:19153340 RGD:8553064 NCBI chr10:4,561,989...4,955,633
Ensembl chr10:4,561,593...4,955,614
JBrowse link
G Esr2 estrogen receptor 2 (beta) severity ISO RGD PMID:19153340 RGD:8553064 NCBI chr12:76,167,193...76,224,033
Ensembl chr12:76,167,193...76,224,033
JBrowse link
G F2rl1 coagulation factor II (thrombin) receptor-like 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17145863 NCBI chr13:95,648,226...95,661,748
Ensembl chr13:95,648,240...95,661,735
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 chr19:34,267,926...34,305,175
Ensembl chr19:34,268,066...34,305,172
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
RGD
PMID:16487513 PMID:16538172 RGD:12903985 NCBI chr 1:161,608,260...161,616,064
Ensembl chr 1:161,608,258...161,616,064
JBrowse link
G Fasn fatty acid synthase ISO CTD Direct Evidence: marker/mechanism CTD PMID:18770866 PMID:20805790 PMID:21213365 NCBI chr11:120,696,784...120,715,992
Ensembl chr11:120,696,672...120,715,373
JBrowse link
G Fat4 FAT atypical cadherin 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22197931 NCBI chr 3:38,940,045...39,066,136
Ensembl chr 3:38,941,089...39,066,134
JBrowse link
G Fbn1 fibrillin 1 ISO ClinVar Annotator: match by term: Malignant melanoma, somatic ClinVar PMID:7611299 PMID:8894692 PMID:9401003 PMID:9536098 PMID:10533071 More... NCBI chr 2:125,142,514...125,348,417
Ensembl chr 2:125,142,514...125,349,913
JBrowse link
G Fbxw7 F-box and WD-40 domain protein 7 ISO ClinVar Annotator: match by term: Malignant melanoma, somatic ClinVar PMID:25741868 PMID:26619011 NCBI chr 3:84,721,901...84,886,505
Ensembl chr 3:84,722,575...84,886,505
JBrowse link
G Fhip2a FHF complex subunit HOOK interacting protein 2A ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr19:57,349,355...57,378,026
Ensembl chr19:57,349,112...57,378,018
JBrowse link
G Flt1 FMS-like tyrosine kinase 1 ISO protein:increased expression:serum:
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:19718025 PMID:21730877 RGD:8552360 NCBI chr 5:147,498,414...147,663,419
Ensembl chr 5:147,498,414...147,662,821
JBrowse link
G Fto fat mass and obesity associated ISO CTD Direct Evidence: marker/mechanism CTD PMID:23455637 NCBI chr 8:92,039,995...92,395,061
Ensembl chr 8:92,040,153...92,395,067
JBrowse link
G Gab2 growth factor receptor bound protein 2-associated protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr 7:96,730,958...96,958,158
Ensembl chr 7:96,730,793...96,958,153
JBrowse link
G Gdf15 growth differentiation factor 15 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17145863 NCBI chr 8:71,082,043...71,085,106
Ensembl chr 8:71,082,043...71,085,106
JBrowse link
G Ggt1 gamma-glutamyltransferase 1 disease_progression ISO RGD PMID:6120756 RGD:14747014 NCBI chr10:75,396,910...75,422,027
Ensembl chr10:75,397,438...75,422,034
JBrowse link
G Glo1 glyoxalase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20093988 NCBI chr17:30,811,835...30,831,633
Ensembl chr17:30,803,910...30,845,845
JBrowse link
G Gna11 guanine nucleotide binding protein, alpha 11 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Melanoma
CTD
ClinVar
PMID:1328859 PMID:2549426 PMID:21083380 PMID:21444680 PMID:22733540 More... NCBI chr10:81,364,558...81,380,996
Ensembl chr10:81,364,558...81,381,024
JBrowse link
G Gnaq guanine nucleotide binding protein, alpha q polypeptide ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Melanoma
CTD
ClinVar
PMID:1328859 PMID:2549426 PMID:18719078 PMID:19078957 PMID:21083380 More... NCBI chr19:16,110,048...16,365,884
Ensembl chr19:16,110,195...16,364,827
JBrowse link
G Gnas GNAS (guanine nucleotide binding protein, alpha stimulating) complex locus ISO ClinVar Annotator: match by term: Malignant melanoma, somatic ClinVar PMID:1517386 PMID:1594625 PMID:1944469 PMID:2549426 PMID:3720010