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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:melanoma
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Accession:DOID:1909 term browser browse the term
Definition:A cell type cancer that has_material_basis_in abnormally proliferating cells derives_from melanocytes which are found in skin, the bowel and the eye. (DO)
Synonyms:exact_synonym: Malignant Melanoma;   Malignant Melanoma, Somatic;   malignant melanomas;   melanomas;   naevocarcinoma
 narrow_synonym: Non-Cutaneous Melanoma
 related_synonym: Albumin Nagano;   Albumin Oliphant;   Albumin Osaka 2;   Albumin Phnom Penh;   Albumin Verona B;   MALIGNANT MELANOMA SUSCEPTIBILITY;   albumin B
 primary_id: MESH:D008545
 xref: EFO:0000756;   EFO:1000397;   NCI:C120298;   NCI:C21790;   NCI:C3224;   NCI:C60451
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
melanoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcb5 ATP binding cassette subfamily B member 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15899824 NCBI chr 6:139,836,528...139,932,830
Ensembl chr 6:139,835,949...139,932,830 		JBrowse link
G Acer3 alkaline ceramidase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr 1:152,504,180...152,606,596
Ensembl chr 1:152,504,186...152,606,591 		JBrowse link
G Adamts20 ADAM metallopeptidase with thrombospondin type 1 motif, 20 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21559390 NCBI chr 7:125,396,227...125,528,020
Ensembl chr 7:125,397,734...125,527,777 		JBrowse link
G Ager advanced glycosylation end product-specific receptor treatment ISO RGD PMID:15009731 RGD:8695970 NCBI chr20:4,148,150...4,151,361
Ensembl chr20:4,147,890...4,151,078 		JBrowse link
G Akr1b10 aldo-keto reductase family 1 member B10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21499247 NCBI chr 4:63,038,459...63,060,336
Ensembl chr 4:63,040,169...63,053,852 		JBrowse link
G Akt1 AKT serine/threonine kinase 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 chr 6:131,713,716...131,735,319
Ensembl chr 6:131,713,720...131,733,921 		JBrowse link
G Aldh1a1 aldehyde dehydrogenase 1 family, member A1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:31580832 NCBI chr 1:218,000,470...218,152,962
Ensembl chr 1:218,042,127...218,152,961 		JBrowse link
G Aldh1a3 aldehyde dehydrogenase 1 family, member A3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:31580832 NCBI chr 1:119,982,272...120,017,416
Ensembl chr 1:119,982,277...120,017,436 		JBrowse link
G Amigo2 adhesion molecule with Ig like domain 2 treatment ISO RGD PMID:26553931 RGD:14392781 NCBI chr 7:128,391,493...128,394,589
Ensembl chr 7:128,390,412...128,394,695 		JBrowse link
G Apex1 apurinic/apyrimidinic endodeoxyribonuclease 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16373707 NCBI chr15:24,144,595...24,146,785
Ensembl chr15:24,144,362...24,146,785 		JBrowse link
G Arl2 ADP-ribosylation factor like GTPase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr 1:203,434,129...203,446,156
Ensembl chr 1:203,434,129...203,446,119 		JBrowse link
G Arl5b ADP-ribosylation factor like GTPase 5B ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr17:77,955,864...77,979,895
Ensembl chr17:77,955,818...77,979,854 		JBrowse link
G Arnt aryl hydrocarbon receptor nuclear translocator ISO CTD Direct Evidence: marker/mechanism CTD PMID:21983785 NCBI chr 2:182,997,731...183,056,584
Ensembl chr 2:182,997,736...183,056,580 		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 9:75,820,782...75,851,471
Ensembl chr 9:75,820,770...75,851,471 		JBrowse link
G Asf1a anti-silencing function 1A histone chaperone ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr20:32,893,962...32,908,808
Ensembl chr20:32,893,573...32,908,808 		JBrowse link
G Asip agouti signaling protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:18488027 PMID:18641652 PMID:21983785 NCBI chr 3:143,473,584...143,561,170
Ensembl chr 3:143,555,696...143,561,171 		JBrowse link
G Ass1 argininosuccinate synthase 1 ISO RGD PMID:12359751 RGD:4140479 NCBI chr 3:14,747,355...14,796,909
Ensembl chr 3:14,747,368...14,796,903 		JBrowse link
G Atm ATM serine/threonine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:21983787 NCBI chr 8:53,828,741...53,932,773
Ensembl chr 8:53,831,093...53,932,437 		JBrowse link
G Atrx ATRX, chromatin remodeler disease_progression ISO protein:decreased expression:skin: RGD PMID:24468746 RGD:9586028 NCBI chr  X:70,850,981...70,997,330
Ensembl chr  X:70,850,981...70,997,330 		JBrowse link
G Aurka aurora kinase A ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr 3:161,128,309...161,144,524
Ensembl chr 3:161,128,313...161,144,390 		JBrowse link
G B2m beta-2 microglobulin ISO ClinVar Annotator: match by term: Malignant melanoma, somatic ClinVar PMID:26619011 NCBI chr 3:109,095,740...109,101,764
Ensembl chr 3:109,095,729...109,101,766 		JBrowse link
G Batf2 basic leucine zipper ATF-like transcription factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr 1:203,467,291...203,479,428
Ensembl chr 1:203,468,097...203,475,889 		JBrowse link
G Bcl2 BCL2, apoptosis regulator severity ISO protein:increased expression:lymph node (human) RGD PMID:8783649 RGD:11526106 NCBI chr13:22,689,783...22,853,920
Ensembl chr13:22,684,989...22,853,743
Ensembl chr13:22,684,989...22,853,743 		JBrowse link
G Bcl2l1 Bcl2-like 1 disease_progression ISO protein:increased expression:skin, subcutaneous tissue (human) RGD PMID:17384650 RGD:11353861 NCBI chr 3:141,253,508...141,304,582
Ensembl chr 3:141,253,523...141,303,479 		JBrowse link
G Bcl2l12 Bcl2 like 12 ISO ClinVar Annotator: match by term: Malignant melanoma, somatic ClinVar PMID:26619011 NCBI chr 1:95,472,272...95,480,991
Ensembl chr 1:95,472,272...95,480,991 		JBrowse link
G Bles03 basophilic leukemia expressed protein BLES03 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr 1:202,734,555...202,736,809
Ensembl chr 1:202,734,555...202,736,804 		JBrowse link
G Bmp4 bone morphogenetic protein 4 susceptibility ISO DNA:SNP:cds:6007C>T (rs17563)(human) RGD PMID:19557432 RGD:9068447 NCBI chr15:19,618,538...19,633,494
Ensembl chr15:19,618,542...19,623,306 		JBrowse link
G Braf B-Raf proto-oncogene, serine/threonine kinase treatment
onset		 ISO
ISS		 ClinVar Annotator: match by term: MELANOMA, MALIGNANT | 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
MouseDO
CTD
RGD		 PMID:2493360 PMID:2500657 PMID:2872605 PMID:8042262 PMID:12068308 More... RGD:1580103, RGD:151660349, RGD:11567267, RGD:11567259 NCBI chr 4:68,375,484...68,510,652
Ensembl chr 4:68,384,649...68,510,463 		JBrowse link
G Brca2 BRCA2, DNA repair associated susceptibility ISO DNA:polymorphism:cds:p.N991D(human)
ClinVar Annotator: match by term: Melanoma		 ClinVar
RGD		 PMID:25741868 PMID:28492532 PMID:31911673 PMID:18024013 RGD:9068469 NCBI chr12:59,492...103,789
Ensembl chr12:59,819...100,567 		JBrowse link
G Brd2 bromodomain containing 2 ISO protein:mRNA:skin: RGD PMID:23950209 RGD:9586346 NCBI chr20:4,727,078...4,735,389
Ensembl chr20:4,728,151...4,735,388 		JBrowse link
G Brd4 bromodomain containing 4 ISO protein:mRNA:skin: RGD PMID:23950209 RGD:9586346 NCBI chr 7:11,216,446...11,296,029
Ensembl chr 7:11,216,446...11,295,539 		JBrowse link
G Bsg basigin (Ok blood group) ISO CTD Direct Evidence: marker/mechanism CTD PMID:36574092 NCBI chr 7:9,993,170...10,000,387
Ensembl chr 7:9,993,170...10,000,387 		JBrowse link
G Bzw1 basic leucine zipper and W2 domains 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr 9:59,930,672...59,944,468
Ensembl chr 9:59,930,744...59,944,430 		JBrowse link
G C3 complement C3 treatment ISO RGD PMID:17146472 RGD:7401279 NCBI chr 9:2,087,437...2,114,366
Ensembl chr 9:2,087,437...2,114,429 		JBrowse link
G Capn1 calpain 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr 1:203,275,912...203,300,848
Ensembl chr 1:203,277,344...203,300,177 		JBrowse link
G Casp8 caspase 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18563783 PMID:21983787 NCBI chr 9:60,263,863...60,312,542
Ensembl chr 9:60,264,075...60,312,542 		JBrowse link
G Cat catalase ISO protein:increased activity:melanocyte:
protein:increased activity:multiple:		 RGD PMID:9758419 PMID:15224238 RGD:9479151, RGD:9479742 NCBI chr 3:89,842,393...89,874,577
Ensembl chr 3:89,842,399...89,874,478 		JBrowse link
G Cav1 caveolin 1 disease_progression ISO RGD PMID:22134245 RGD:8661767 NCBI chr 4:45,640,624...45,673,708
Ensembl chr 4:45,634,918...45,673,705 		JBrowse link
G Cbs cystathionine beta synthase ISO CTD Direct Evidence: marker/mechanism CTD PMID:25205294 NCBI chr20:9,708,089...9,732,623
Ensembl chr20:9,708,090...9,732,764 		JBrowse link
G Ccdc63 coiled-coil domain containing 63 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21499247 NCBI chr12:34,424,388...34,453,080
Ensembl chr12:34,424,344...34,453,085 		JBrowse link
G Cd274 CD274 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:20143437 NCBI chr 1:227,116,674...227,137,379
Ensembl chr 1:227,116,649...227,134,450 		JBrowse link
G Cd40 CD40 molecule treatment ISO RGD PMID:22421945 PMID:17327609 RGD:11522740, RGD:11522745 NCBI chr 3:153,790,372...153,805,279
Ensembl chr 3:153,790,449...153,805,534 		JBrowse link
G Cdk2 cyclin dependent kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21559390 NCBI chr 7:1,129,878...1,137,431
Ensembl chr 7:1,129,811...1,137,403 		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 chr 7:62,886,124...62,889,562
Ensembl chr 7:62,883,105...62,942,403 		JBrowse link
G Cdkn1a cyclin-dependent kinase inhibitor 1A ISO protein:increased expression:skin RGD PMID:22311377 PMID:9194578 RGD:8662421, RGD:8662817 NCBI chr20:7,149,177...7,159,727
Ensembl chr20:7,149,217...7,159,585 		JBrowse link
G Cdkn1c cyclin-dependent kinase inhibitor 1C ISO CTD Direct Evidence: marker/mechanism CTD PMID:17145863 NCBI chr 1:198,655,394...198,658,097
Ensembl chr 1:198,655,407...198,658,048 		JBrowse link
G Cdkn2a cyclin-dependent kinase inhibitor 2A susceptibility ISO 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:7718873 PMID:7777061 More... RGD:1600812, RGD:8552300 NCBI chr 5:103,984,949...103,992,143
Ensembl chr 5:103,984,949...104,003,149 		JBrowse link
G Chek2 checkpoint kinase 2 ISO ClinVar Annotator: match by term: Melanoma ClinVar PMID:12533788 PMID:15087378 PMID:15095295 PMID:15492928 PMID:15810020 More... NCBI chr12:45,788,823...45,821,382
Ensembl chr12:45,788,827...45,821,286 		JBrowse link
G Chi3l1 chitinase 3 like 1 severity ISO protein:increased secretion:serum (human) RGD PMID:16456816 RGD:4892643 NCBI chr13:45,641,802...45,649,787
Ensembl chr13:45,641,802...45,649,787 		JBrowse link
G Clns1a chloride nucleotide-sensitive channel 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr 1:152,019,369...152,039,670
Ensembl chr 1:152,019,378...152,039,661 		JBrowse link
G Clu clusterin ISO CTD Direct Evidence: therapeutic CTD PMID:15955107 NCBI chr15:40,161,068...40,200,315
Ensembl chr15:40,174,617...40,200,315 		JBrowse link
G Cnnm1 cyclin and CBS domain divalent metal cation transport mediator 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16778180 NCBI chr 1:242,296,367...242,354,957
Ensembl chr 1:242,296,422...242,353,513 		JBrowse link
G Col2a1 collagen type II alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:16778180 NCBI chr 7:129,098,489...129,127,560
Ensembl chr 7:129,098,786...129,127,546 		JBrowse link
G Cp ceruloplasmin ISO CTD Direct Evidence: marker/mechanism CTD PMID:23792645 NCBI chr 2:102,439,433...102,498,075
Ensembl chr 2:102,439,624...102,498,075 		JBrowse link
G Cpt1c carnitine palmitoyltransferase 1c ISO CTD Direct Evidence: marker/mechanism CTD PMID:16778180 NCBI chr 1:95,442,814...95,457,347
Ensembl chr 1:95,442,817...95,457,342 		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 chr10:11,335,551...11,461,888
Ensembl chr10:11,335,953...11,461,888 		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 3:133,338,593...133,354,329
Ensembl chr 3:133,337,039...133,354,302
Ensembl chr 6:133,337,039...133,354,302 		JBrowse link
G Crybg1 crystallin beta-gamma domain containing 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22402438 NCBI chr20:47,425,030...47,496,918
Ensembl chr20:47,426,183...47,621,392 		JBrowse link
G Csf2 colony stimulating factor 2 ISO CTD Direct Evidence: therapeutic CTD PMID:11061616 NCBI chr10:38,386,945...38,388,926
Ensembl chr10:38,386,945...38,389,199 		JBrowse link
G Csf3 colony stimulating factor 3 ISO CTD Direct Evidence: therapeutic CTD PMID:16120623 PMID:16260693 NCBI chr10:83,660,787...83,664,569
Ensembl chr10:83,661,207...83,663,603 		JBrowse link
G Cst6 cystatin E/M ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr 1:202,655,322...202,657,030
Ensembl chr 1:202,655,322...202,657,030 		JBrowse link
G Cth cystathionine gamma-lyase ISO CTD Direct Evidence: marker/mechanism CTD PMID:25205294 NCBI chr 2:246,975,888...247,002,234
Ensembl chr 2:246,975,894...247,002,234 		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 9:62,318,874...62,325,978
Ensembl chr 9:62,319,312...62,324,963 		JBrowse link
G Ctnnb1 catenin 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 8:120,640,008...120,667,110
Ensembl chr 8:120,639,995...120,667,111 		JBrowse link
G Cubn cubilin ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr17:76,385,046...76,593,133
Ensembl chr17:76,385,060...76,593,231 		JBrowse link
G Cul3 cullin 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr 9:81,592,641...81,670,428
Ensembl chr 9:81,592,641...81,670,462 		JBrowse link
G Cyp1b1 cytochrome P450, family 1, subfamily b, polypeptide 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17145863 NCBI chr 6:15,342,312...15,350,886
Ensembl chr 6:15,342,344...15,350,917 		JBrowse link
G Dcbld1 discoidin, CUB and LCCL domain containing 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr20:31,618,556...31,711,697
Ensembl chr20:31,618,542...31,711,692 		JBrowse link
G Dcc DCC netrin 1 receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:22842228 NCBI chr18:64,868,987...65,972,783
Ensembl chr18:64,873,898...65,972,740 		JBrowse link
G Ddit4l DNA-damage-inducible transcript 4-like ISO CTD Direct Evidence: marker/mechanism CTD PMID:16778180 NCBI chr 2:226,128,273...226,131,044
Ensembl chr 2:226,128,276...226,131,375 		JBrowse link
G Ddr2 discoidin domain receptor tyrosine kinase 2 ameliorates ISO DNA:deletion:exons: RGD PMID:24293323 RGD:150429711 NCBI chr13:82,193,623...82,318,229
Ensembl chr13:82,195,463...82,317,363 		JBrowse link
G Dlg2 discs large MAGUK scaffold protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr 1:144,451,653...146,503,949
Ensembl chr 1:144,451,472...146,499,475 		JBrowse link
G Dnajc1 DnaJ heat shock protein family (Hsp40) member C1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr17:80,955,209...81,112,025
Ensembl chr17:80,955,237...81,111,988 		JBrowse link
G Dnajc15 DnaJ heat shock protein family (Hsp40) member C15 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17145863 NCBI chr15:53,182,060...53,249,675
Ensembl chr15:53,184,855...53,249,675 		JBrowse link
G Dnmt3a DNA methyltransferase 3 alpha ISO ClinVar Annotator: match by term: Melanoma ClinVar PMID:24614070 PMID:28475857 PMID:28492532 PMID:29900417 NCBI chr 6:26,791,517...26,902,161
Ensembl chr 6:26,822,609...26,896,687 		JBrowse link
G Drap1 Dr1 associated protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr 1:202,731,775...202,734,468
Ensembl chr 1:202,731,788...202,734,425 		JBrowse link
G Dsc1 desmocollin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22197931 NCBI chr18:11,499,936...11,556,801
Ensembl chr18:11,502,003...11,528,494 		JBrowse link
G E2f1 E2F transcription factor 1 ISO CTD Direct Evidence: marker/mechanism|therapeutic CTD PMID:15574415 PMID:16827129 NCBI chr 3:143,064,535...143,075,362
Ensembl chr 3:143,049,478...143,075,361 		JBrowse link
G Echdc1 ethylmalonyl-CoA decarboxylase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr 1:28,476,354...28,507,173
Ensembl chr 1:28,476,200...28,507,319 		JBrowse link
G Eda ectodysplasin-A ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr  X:65,078,454...65,480,172
Ensembl chr  X:65,078,673...65,480,172 		JBrowse link
G Ehmt2 euchromatic histone lysine methyltransferase 2 disease_progression ISO RGD PMID:24658378 RGD:9590069 NCBI chr20:3,919,623...3,936,751
Ensembl chr20:3,919,624...3,941,547 		JBrowse link
G Eif1ad eukaryotic translation initiation factor 1A domain containing ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr 1:202,674,362...202,679,662
Ensembl chr 1:202,674,185...202,679,658 		JBrowse link
G Eln elastin disease_progression ISO associated with Nevus, Pigmented; RGD PMID:11979070 PMID:19032378 RGD:9585752, RGD:9585768 NCBI chr12:21,968,544...22,011,929
Ensembl chr12:21,968,544...22,011,928 		JBrowse link
G Eng endoglin treatment ISO RGD PMID:23076642 RGD:7248785 NCBI chr 3:15,934,566...15,972,618
Ensembl chr 3:15,934,518...15,973,230 		JBrowse link
G Ep300 E1A binding protein p300 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23698071 NCBI chr 7:113,108,476...113,178,529
Ensembl chr 7:113,106,247...113,136,088
Ensembl chr 7:113,106,247...113,136,088 		JBrowse link
G Epb41 erythrocyte membrane protein band 4.1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17145863 NCBI chr 5:144,110,010...144,264,037
Ensembl chr 5:144,111,906...144,237,821 		JBrowse link
G Ephx3 epoxide hydrolase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16778180 NCBI chr 7:11,206,812...11,212,122
Ensembl chr 7:11,206,812...11,212,122 		JBrowse link
G Epo erythropoietin ISO CTD Direct Evidence: marker/mechanism CTD PMID:15743794 NCBI chr12:19,204,258...19,207,948
Ensembl chr12:19,204,508...19,207,946 		JBrowse link
G Epor erythropoietin receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:21860424 NCBI chr 8:20,489,678...20,494,257
Ensembl chr 8:20,489,678...20,494,257 		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 chr10:83,411,197...83,435,078
Ensembl chr10:83,411,313...83,435,078 		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 9:69,523,733...70,596,743
Ensembl chr 9:69,531,481...70,596,595 		JBrowse link
G Ercc1 ERCC excision repair 1, endonuclease non-catalytic subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:21722328 NCBI chr 1:78,971,310...79,007,963
Ensembl chr 1:78,996,390...79,007,963 		JBrowse link
G Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit disease_progression ISO DNA:polymorphism:exon:p.K751Q(human) RGD PMID:21390047 RGD:12880434 NCBI chr 1:79,033,342...79,047,102
Ensembl chr 1:79,033,326...79,047,102 		JBrowse link
G Ercc5 ERCC excision repair 5, endonuclease disease_progression ISO DNA:polymorphism:exon:p.D1104H(human) RGD PMID:21390047 RGD:12880434 NCBI chr 9:46,309,477...46,354,478
Ensembl chr 9:46,309,389...46,354,472 		JBrowse link
G Esr1 estrogen receptor 1 severity ISO RGD PMID:19153340 RGD:8553064 NCBI chr 1:41,106,335...41,499,104
Ensembl chr 1:41,210,475...41,495,002 		JBrowse link
G Esr2 estrogen receptor 2 severity ISO RGD PMID:19153340 RGD:8553064 NCBI chr 6:94,858,438...94,909,630
Ensembl chr 6:94,809,547...94,908,919 		JBrowse link
G F2rl1 F2R like trypsin receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17145863 NCBI chr 2:26,772,274...26,785,226
Ensembl chr 2:26,772,278...26,785,226 		JBrowse link
G Fas Fas cell surface death receptor susceptibility ISO DNA:polymorphisms:promoter:-1377A>G,-670A>G(human) RGD PMID:16538172 RGD:12903985 NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591 		JBrowse link
G Faslg Fas ligand susceptibility ISO CTD Direct Evidence: therapeutic
DNA:polymorphisms,haplotype:promoter:-844C>T,IVS2nt-124A>G(human)		 CTD
RGD		 PMID:16487513 PMID:16538172 RGD:12903985 NCBI chr13:74,151,519...74,172,760
Ensembl chr13:74,154,954...74,162,215 		JBrowse link
G Fasn fatty acid synthase ISO CTD Direct Evidence: marker/mechanism CTD PMID:18770866 PMID:20805790 PMID:21213365 NCBI chr10:106,072,093...106,090,259
Ensembl chr10:106,072,091...106,090,261 		JBrowse link
G Fat4 FAT atypical cadherin 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22197931 NCBI chr 2:121,927,266...122,056,700
Ensembl chr 2:121,927,942...122,056,707 		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 3:112,554,257...112,750,835
Ensembl chr 3:112,554,925...112,750,889 		JBrowse link
G Fbxw7 F-box and WD repeat domain containing 7 ISO ClinVar Annotator: match by term: Malignant melanoma, somatic ClinVar PMID:25741868 PMID:26619011 NCBI chr 2:170,149,706...170,311,536
Ensembl chr 2:170,149,694...170,309,941 		JBrowse link
G Fhip2a FHF complex subunit HOOK interacting protein 2A ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr 1:256,417,533...256,444,109
Ensembl chr 1:256,417,788...256,441,617 		JBrowse link
G Flt1 Fms related receptor tyrosine kinase 1 ISO protein:increased expression:serum:
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:19718025 PMID:21730877 RGD:8552360 NCBI chr12:7,296,899...7,468,626
Ensembl chr12:7,297,292...7,468,626 		JBrowse link
G Fto FTO, alpha-ketoglutarate dependent dioxygenase ISO CTD Direct Evidence: marker/mechanism CTD PMID:23455637 NCBI chr19:15,284,898...15,692,142
Ensembl chr19:15,349,696...15,692,083 		JBrowse link
G Gab2 GRB2-associated binding protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr 1:151,429,844...151,625,708
Ensembl chr 1:151,429,695...151,625,031 		JBrowse link
G Gdf15 growth differentiation factor 15 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17145863 NCBI chr16:18,804,457...18,808,043
Ensembl chr16:18,805,239...18,808,055 		JBrowse link
G Ggt1 gamma-glutamyltransferase 1 disease_progression ISO RGD PMID:6120756 RGD:14747014 NCBI chr20:13,074,695...13,104,095
Ensembl chr20:13,074,700...13,108,442 		JBrowse link
G Glo1 glyoxalase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20093988 NCBI chr20:8,663,617...8,681,661
Ensembl chr20:8,662,801...8,681,649 		JBrowse link
G Gna11 G protein subunit 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 chr 7:8,163,520...8,177,863
Ensembl chr 7:8,162,750...8,179,812 		JBrowse link
G Gnaq G protein subunit alpha q ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Malignant melanoma, somatic | ClinVar Annotator: match by term: Melanoma		 CTD
ClinVar		 PMID:1328859 PMID:2549426 PMID:18719078 PMID:19078957 PMID:21083380 More... NCBI chr 1:213,425,631...213,671,947
Ensembl chr 1:213,424,465...213,667,672 		JBrowse link
G Gnas GNAS complex locus ISO ClinVar Annotator: match by term: Malignant melanoma, somatic ClinVar PMID:1517386 PMID:1594625 PMID:1944469 PMID:2549426 PMID:3720010 More... NCBI chr 3:163,071,003...163,136,350
Ensembl chr 3:163,071,417...163,127,262
Ensembl chr 3:163,071,417...163,127,262 		JBrowse link
G Gopc golgi associated PDZ and coiled-coil motif containing ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr20:31,727,617...31,776,904
Ensembl chr20:31,727,620...31,776,903 		JBrowse link
G Gpam glycerol-3-phosphate acyltransferase, mitochondrial ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr 1:254,106,323...254,170,755
Ensembl chr 1:254,106,331...254,142,639 		JBrowse link
G Gper1 G protein-coupled estrogen receptor 1 severity ISO protein:increased expression:skin (human) RGD PMID:28467693 RGD:39939016 NCBI chr12:15,217,217...15,222,679
Ensembl chr12:15,217,442...15,221,889 		JBrowse link
G Gpha2 glycoprotein hormone subunit alpha 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr 1:203,525,952...203,527,271
Ensembl chr 1:203,526,122...203,527,270 		JBrowse link
G Grin2a glutamate ionotropic receptor NMDA type subunit 2A ISO CTD Direct Evidence: marker/mechanism CTD PMID:21499247 NCBI chr10:5,629,683...6,053,262
Ensembl chr10:5,631,369...6,044,637 		JBrowse link
G Grm3 glutamate metabotropic receptor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21946352 PMID:22842228 NCBI chr 4:24,364,854...24,643,972
Ensembl chr 4:24,365,115...24,609,804 		JBrowse link
G Gstp1 glutathione S-transferase pi 1 ISO DNA:polymorphism:cds:p.I50V(human) RGD PMID:23568549 RGD:8547833 NCBI chr 1:201,337,762...201,340,230
Ensembl chr 1:201,321,672...201,340,226 		JBrowse link
G Hdac2 histone deacetylase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr20:40,548,244...40,571,609
Ensembl chr20:40,548,250...40,571,609 		JBrowse link
G Hdac3 histone deacetylase 3 ISO associated with Anaphylaxis; RGD PMID:24619412 RGD:9590165 NCBI chr18:29,770,637...29,789,850
Ensembl chr18:29,770,636...29,793,856 		JBrowse link
G Hdac6 histone deacetylase 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr  X:14,550,645...14,572,445
Ensembl chr  X:14,551,044...14,572,441 		JBrowse link
G Hikeshi heat shock protein nuclear import factor hikeshi ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr 1:143,825,399...143,849,361
Ensembl chr 1:143,825,923...143,849,363 		JBrowse link
G Hoxa9 homeobox A9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16778180 NCBI chr 4:81,323,235...81,329,344
Ensembl chr 4:81,323,382...81,326,358 		JBrowse link
G Hoxb13 homeo box B13 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17145863 NCBI chr10:81,160,498...81,162,777
Ensembl chr10:81,160,498...81,162,777 		JBrowse link
G Hoxd12 homeo box D12 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16778180 NCBI chr 3:59,577,677...59,578,798
Ensembl chr 3:59,577,677...59,578,798 		JBrowse link
G Hpse heparanase ISO CTD Direct Evidence: marker/mechanism CTD PMID:22240343 NCBI chr14:8,896,593...8,937,011
Ensembl chr14:8,896,593...8,937,010 		JBrowse link
G Hras HRas proto-oncogene, GTPase ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Malignant melanoma, somatic | ClinVar Annotator: match by term: Melanoma		 CTD
ClinVar		 PMID:1904555 PMID:2999610 PMID:3510078 PMID:3537694 PMID:6092966 More... NCBI chr 1:196,290,127...196,299,823
Ensembl chr 1:196,296,263...196,300,615 		JBrowse link
G Hs3st5 heparan sulfate-glucosamine 3-sulfotransferase 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr20:40,106,876...40,417,661
Ensembl chr20:40,106,876...40,417,653 		JBrowse link
G Hspa1a heat shock protein family A (Hsp70) member 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:26984758 NCBI chr20:3,870,765...3,873,221
Ensembl chr20:3,856,006...3,873,227 		JBrowse link
G Icam1 intercellular adhesion molecule 1 disease_progression ISO RGD PMID:8599446 RGD:8547584 NCBI chr 8:19,553,063...19,565,438
Ensembl chr 8:19,553,645...19,565,438 		JBrowse link
G Idh1 isocitrate dehydrogenase (NADP(+)) 1 ISO ClinVar Annotator: match by term: Malignant melanoma, somatic ClinVar PMID:18772396 PMID:19657110 PMID:19798509 PMID:19818334 PMID:20946881 More... NCBI chr 9:66,534,146...66,563,703
Ensembl chr 9:66,534,146...66,563,708 		JBrowse link
G Ier2 immediate early response 2 disease_progression ISO mRNA:increased expression:skin (human) RGD PMID:34611309 RGD:153323325 NCBI chr19:23,494,551...23,496,075
Ensembl chr19:23,494,184...23,499,211 		JBrowse link
G Ifna1 interferon, alpha 1 ISO CTD Direct Evidence: therapeutic CTD PMID:15176220 PMID:15577320 PMID:15577323 PMID:16034308 PMID:16260693 More... NCBI chr 5:103,097,356...103,097,925
Ensembl chr 5:103,097,356...103,097,925 		JBrowse link
G Ifnb1 interferon beta 1 ISO CTD Direct Evidence: therapeutic CTD PMID:16928243 PMID:21846298 NCBI chr 5:103,020,758...103,021,595
Ensembl chr 5:103,020,969...103,021,523 		JBrowse link
G Ifng interferon gamma ISO CTD Direct Evidence: therapeutic CTD PMID:9794839 NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375 		JBrowse link
G Il17d interleukin 17D severity ISO RGD PMID:31244826 RGD:40903065 NCBI chr15:31,671,337...31,688,833 JBrowse link
G Il1rapl1 interleukin 1 receptor accessory protein-like 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr  X:51,371,969...52,876,726
Ensembl chr  X:51,378,215...52,876,772 		JBrowse link
G Il1rn interleukin 1 receptor antagonist ISO mouse model treated with human protein RGD PMID:8168095 RGD:6909140 NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445 		JBrowse link
G Il2 interleukin 2 ISO CTD Direct Evidence: therapeutic CTD PMID:12374674 PMID:12439608 PMID:15577323 PMID:15917704 PMID:16131448 More... NCBI chr 2:120,004,862...120,009,566
Ensembl chr 2:120,004,862...120,009,566 		JBrowse link
G Il21 interleukin 21 treatment ISO RGD PMID:22477528 RGD:127285553 NCBI chr 2:120,117,105...120,127,012
Ensembl chr 2:120,119,444...120,126,996 		JBrowse link
G Incenp inner centromere protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr 1:206,520,655...206,550,575
Ensembl chr 1:206,523,380...206,553,265 		JBrowse link
G Iqch IQ motif containing H ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr 8:63,889,816...64,083,248
Ensembl chr 8:63,892,370...64,083,223 		JBrowse link
G Jakmip2 janus kinase and microtubule interacting protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22842228 NCBI chr18:35,532,552...35,747,938
Ensembl chr18:35,532,552...35,747,775 		JBrowse link
G Jmjd6 jumonji domain containing 6, arginine demethylase and lysine hydroxylase ISO CTD Direct Evidence: marker/mechanism CTD PMID:30619488 NCBI chr10:102,041,131...102,047,182
Ensembl chr10:102,041,120...102,047,182 		JBrowse link
G Junb JunB proto-oncogene, AP-1 transcription factor subunit treatment ISO human cell line in a mouse model RGD PMID:28976960 RGD:151347671 NCBI chr19:23,176,265...23,178,049
Ensembl chr19:23,176,294...23,178,035 		JBrowse link
G Kdm1a lysine demethylase 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:29438700 NCBI chr 5:148,782,976...148,838,319
Ensembl chr 5:148,782,976...148,838,319 		JBrowse link
G Kdm4a lysine demethylase 4A ISO CTD Direct Evidence: marker/mechanism CTD PMID:29438700 NCBI chr 5:131,672,754...131,719,534
Ensembl chr 5:131,672,754...131,719,501 		JBrowse link
G Kdm4b lysine demethylase 4B ISO CTD Direct Evidence: marker/mechanism CTD PMID:29438700 NCBI chr 9:1,158,737...1,237,233
Ensembl chr 9:1,158,752...1,236,543 		JBrowse link
G Kdm4c lysine demethylase 4C ISO CTD Direct Evidence: marker/mechanism CTD PMID:29438700 NCBI chr 5:88,100,710...88,306,821
Ensembl chr 5:88,100,733...88,306,818 		JBrowse link
G Kdm7a lysine demethylase 7A ISO human gene in a mouse model RGD PMID:22143793 RGD:9587848 NCBI chr 4:67,899,407...67,974,264
Ensembl chr 4:67,904,307...67,966,998 		JBrowse link
G Kdr kinase insert domain receptor disease_progression
treatment		 ISO protein:increased expression, altered expression:skin:
protein:increased expression:serum:		 RGD PMID:15714119 PMID:12415261 PMID:21730877 RGD:8551851, RGD:126925192, RGD:8552360 NCBI chr14:32,217,871...32,261,018
Ensembl chr14:32,217,871...32,261,018 		JBrowse link
G Khdrbs2 KH RNA binding domain containing, signal transduction associated 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21499247 NCBI chr 9:34,447,023...34,953,684
Ensembl chr 9:34,447,056...34,915,530 		JBrowse link
G Kif18b kinesin family member 18B ISO CTD Direct Evidence: marker/mechanism CTD PMID:31617652 NCBI chr10:87,870,424...87,889,895
Ensembl chr10:87,870,428...87,889,850 		JBrowse link
G Kit KIT proto-oncogene receptor tyrosine kinase disease_progression ISO ClinVar Annotator: match by term: Malignant melanoma, somatic | ClinVar Annotator: match by term: Melanoma ClinVar
RGD		 PMID:7513208 PMID:7530509 PMID:8589724 PMID:9438854 PMID:9657776 More... RGD:12910725 NCBI chr14:32,547,459...32,624,694
Ensembl chr14:32,548,877...32,624,652 		JBrowse link
G Klrb1a killer cell lectin like receptor B1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:17295095 NCBI chr 4:161,890,577...161,904,050
Ensembl chr 4:161,890,577...161,961,675 		JBrowse link
G Klrk1 killer cell lectin like receptor K1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17295095 NCBI chr 4:163,079,887...163,092,434
Ensembl chr 4:163,081,927...163,092,459 		JBrowse link
G Knstrn kinetochore-localized astrin/SPAG5 binding protein ISO ClinVar Annotator: match by term: Malignant melanoma, somatic ClinVar PMID:26619011 NCBI chr 3:105,800,762...105,820,555
Ensembl chr 3:105,800,954...105,820,715 		JBrowse link
G Kras KRAS proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Malignant melanoma, somatic ClinVar PMID:2278970 PMID:3122217 PMID:12460918 PMID:15696205 PMID:16361624 More... NCBI chr 4:178,185,418...178,218,484 JBrowse link
G Lgals3 galectin 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23994248 NCBI chr15:20,620,083...20,632,019
Ensembl chr15:20,607,692...20,632,025 		JBrowse link
G LOC100912356 interferon alpha-1-like ISO CTD Direct Evidence: therapeutic CTD PMID:16809738 NCBI chr 5:103,227,820...103,230,500 JBrowse link
G Lrp1b LDL receptor related protein 1B ameliorates ISO CTD Direct Evidence: marker/mechanism
DNA:mutations:multiple: (human)		 CTD
RGD		 PMID:22197931 PMID:31164891 RGD:150429775 NCBI chr 3:24,594,302...26,715,037
Ensembl chr 3:24,594,991...26,715,505 		JBrowse link
G Lrrc56 leucine rich repeat containing 56 ISO ClinVar Annotator: match by term: MELANOMA, MALIGNANT | ClinVar Annotator: match by term: Malignant melanoma, somatic | ClinVar Annotator: match by term: Melanoma ClinVar PMID:1904555 PMID:2999610 PMID:3510078 PMID:3537694 PMID:6092966 More... NCBI chr 1:196,299,843...196,315,170
Ensembl chr 1:196,299,846...196,315,172 		JBrowse link
G Lta lymphotoxin alpha disease_progression ISO RGD PMID:9182821 RGD:8548801 NCBI chr20:3,618,853...3,621,324
Ensembl chr20:3,618,853...3,620,859 		JBrowse link
G Lxn latexin ISO CTD Direct Evidence: marker/mechanism CTD PMID:17145863 NCBI chr 2:151,727,556...151,733,426
Ensembl chr 2:151,727,102...151,733,460 		JBrowse link
G Map2k1 mitogen activated protein kinase kinase 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Malignant melanoma, somatic | ClinVar Annotator: match by term: Melanoma		 CTD
ClinVar		 PMID:7651428 PMID:17366577 PMID:17551924 PMID:17704260 PMID:18060073 More... NCBI chr 8:64,683,449...64,754,900
Ensembl chr 8:64,683,449...64,755,147 		JBrowse link
G Map2k2 mitogen activated protein kinase kinase 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Malignant melanoma, somatic | ClinVar Annotator: match by term: Melanoma		 CTD
ClinVar		 PMID:22197931 PMID:24265153 PMID:24265154 PMID:25487361 PMID:28492532 NCBI chr 7:8,590,729...8,610,279
Ensembl chr 7:8,580,905...8,610,243 		JBrowse link
G Map3k5 mitogen-activated protein kinase kinase kinase 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22197930 NCBI chr 1:14,685,776...14,904,935
Ensembl chr 1:14,685,492...14,904,800 		JBrowse link
G Map3k9 mitogen-activated protein kinase kinase kinase 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22197930 NCBI chr 6:101,423,754...101,488,822
Ensembl chr 6:101,430,292...101,488,822 		JBrowse link
G Mapk1 mitogen activated protein kinase 1 treatment ISO RGD PMID:28976960 RGD:151347671 NCBI chr11:83,957,813...84,023,629
Ensembl chr11:83,957,813...84,023,616 		JBrowse link
G Mapk14 mitogen activated protein kinase 14 ameliorates ISO mouse cell line in a mouse model RGD PMID:29907597 RGD:151665504 NCBI chr20:6,749,646...6,810,590
Ensembl chr20:6,749,670...6,810,589 		JBrowse link
G Mc1r melanocortin 1 receptor ISO DNA:missense mutations:cds:multiple (human)
ClinVar Annotator: match by term: Malignant Melanoma Susceptibility | ClinVar Annotator: match by term: Malignant melanoma, somatic | ClinVar Annotator: match by term: Melanoma
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
RGD		 PMID:7581459 PMID:16809487 PMID:16982779 PMID:17616515 PMID:18366057 More... RGD:1600619, RGD:6484659 NCBI chr19:51,452,448...51,455,375
Ensembl chr19:51,453,239...51,454,192 		JBrowse link
G Mdm2 MDM2 proto-oncogene ISO CTD Direct Evidence: marker/mechanism CTD PMID:17210701 NCBI chr 7:53,290,660...53,315,205
Ensembl chr 7:53,290,664...53,314,915 		JBrowse link
G Meltf melanotransferrin ISO CTD Direct Evidence: marker/mechanism CTD PMID:16704991 NCBI chr11:68,884,446...68,906,300
Ensembl chr11:68,884,446...68,906,300 		JBrowse link
G Met MET proto-oncogene, receptor tyrosine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:29426936 NCBI chr 4:45,790,456...45,898,139
Ensembl chr 4:45,790,791...45,897,876 		JBrowse link
G Mgmt O-6-methylguanine-DNA methyltransferase IEP protein:increased activity:skin tumor (rat) RGD PMID:20182810 RGD:2316960 NCBI chr 1:191,710,980...191,937,760
Ensembl chr 1:191,710,930...191,937,756 		JBrowse link
G Mir340-1 microRNA 340-1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25043973 NCBI chr10:34,393,568...34,393,665
Ensembl chr10:34,393,568...34,393,665 		JBrowse link
G Mitf melanocyte inducing transcription factor ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Melanoma
mRNA:increased expression:blood		 CTD
ClinVar
RGD		 PMID:2440678 PMID:22012259 PMID:22080950 PMID:22158021 PMID:23167872 More... RGD:13204752 NCBI chr 4:130,409,020...130,621,145
Ensembl chr 4:130,409,217...130,621,145 		JBrowse link
G Mlana melan-A ISO CTD Direct Evidence: marker/mechanism CTD PMID:26640592 NCBI chr 1:227,469,537...227,483,343
Ensembl chr 1:227,469,537...227,483,343 		JBrowse link
G Mllt10 MLLT10, histone lysine methyltransferase DOT1L cofactor ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr17:80,821,870...80,949,349
Ensembl chr17:80,822,556...80,949,345 		JBrowse link
G Mmp8 matrix metallopeptidase 8 ISO CTD Direct Evidence: therapeutic CTD PMID:19330028 NCBI chr 8:4,724,009...4,733,864
Ensembl chr 8:4,724,029...4,733,520 		JBrowse link
G Mpst mercaptopyruvate sulfurtransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:25205294 NCBI chr 7:109,955,581...109,963,155
Ensembl chr 7:109,955,675...109,963,141 		JBrowse link
G Mrpl49 mitochondrial ribosomal protein L49 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr 1:203,346,068...203,350,040
Ensembl chr 1:203,332,481...203,350,049 		JBrowse link
G Mtap methylthioadenosine phosphorylase ISO CTD Direct Evidence: marker/mechanism CTD PMID:19578364 NCBI chr 5:103,874,460...103,920,684
Ensembl chr 5:103,873,020...103,939,406 		JBrowse link
G Mtor mechanistic target of rapamycin kinase ISO ClinVar Annotator: match by term: Malignant melanoma, somatic ClinVar PMID:20190810 PMID:24631838 PMID:25741868 PMID:26018084 PMID:26619011 More... NCBI chr 5:158,884,856...158,994,311
Ensembl chr 5:158,884,804...158,994,311 		JBrowse link
G Mtpap mitochondrial poly(A) polymerase ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr17:53,320,739...53,341,500
Ensembl chr17:53,320,741...53,341,538 		JBrowse link
G Mx2 MX dynamin like GTPase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21983787 NCBI chr11:36,905,698...36,936,308
Ensembl chr11:36,906,111...36,930,342 		JBrowse link
G Myd88 MYD88, innate immune signal transduction adaptor treatment ISO mouse cell line in a mouse model RGD PMID:20823152 RGD:150520170 NCBI chr 8:119,074,439...119,078,508
Ensembl chr 8:119,074,437...119,079,415 		JBrowse link
G Myo7a myosin VIIA ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr 1:152,342,611...152,414,171
Ensembl chr 1:152,344,448...152,414,157 		JBrowse link
G Naf1 nuclear assembly factor 1 ribonucleoprotein ISO DNA:SNP:cds:rs7675988 (human) RGD PMID:25231748 RGD:152995261 NCBI chr16:22,837,583...22,868,320
Ensembl chr16:22,837,588...22,868,293 		JBrowse link
G Ndrg1 N-myc downstream regulated 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15341671 NCBI chr 7:98,684,487...98,725,869
Ensembl chr 7:98,684,487...98,725,880 		JBrowse link
G Nf1 neurofibromin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25119042 PMID:26214590 NCBI chr10:64,306,027...64,539,112
Ensembl chr10:64,306,301...64,536,658 		JBrowse link
G Nfkb1 nuclear factor kappa B subunit 1 ISO RGD PMID:17492467 RGD:2298900 NCBI chr 2:224,016,214...224,132,135
Ensembl chr 2:224,016,214...224,110,404 		JBrowse link
G Nfkbia NFKB inhibitor alpha ISO RGD PMID:17492467 RGD:2298900 NCBI chr 6:72,858,713...72,861,941
Ensembl chr 6:72,858,712...72,861,941 		JBrowse link
G Nfkbie NFKB inhibitor epsilon ISO CTD Direct Evidence: marker/mechanism CTD PMID:26343386 NCBI chr 9:15,443,600...15,450,437
Ensembl chr 9:15,436,941...15,450,437 		JBrowse link
G Ngfr nerve growth factor receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:30339727 NCBI chr10:80,515,287...80,533,518
Ensembl chr10:80,515,299...80,533,518 		JBrowse link
G Nppa natriuretic peptide A ISO CTD Direct Evidence: therapeutic CTD PMID:18004088 NCBI chr 5:158,429,042...158,430,351
Ensembl chr 5:158,429,042...158,430,351 		JBrowse link
G Nras NRAS proto-oncogene, GTPase ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Malignant melanoma, somatic | ClinVar Annotator: match by term: Melanoma
associated with Neoplasm Metastasis; DNA:mutation:multiple (human)		 CTD
ClinVar
RGD		 PMID:1654209 PMID:2278970 PMID:2407301 PMID:2674680 PMID:2989702 More... RGD:151660349 NCBI chr 2:190,582,885...190,593,509
Ensembl chr 2:190,582,918...190,591,626 		JBrowse link
G Nt5dc1 5'-nucleotidase domain containing 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr20:38,105,677...38,208,613
Ensembl chr20:38,105,678...38,208,591 		JBrowse link
G Nuf2 NUF2 component of NDC80 kinetochore complex disease_progression ISO RGD PMID:27237743 RGD:28867234 NCBI chr13:81,693,675...81,722,765
Ensembl chr13:81,693,598...81,722,766 		JBrowse link
G Nus1 NUS1 dehydrodolichyl diphosphate synthase subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr20:31,811,817...31,838,562
Ensembl chr20:31,811,817...31,838,561 		JBrowse link
G Parp1 poly (ADP-ribose) polymerase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28759004 NCBI chr13:92,307,593...92,339,406
Ensembl chr13:92,307,586...92,339,404 		JBrowse link
G Pax4 paired box 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18949370 NCBI chr 4:57,058,453...57,065,995
Ensembl chr 4:57,058,462...57,063,408 		JBrowse link
G Pax6 paired box 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16778180 NCBI chr 3:92,128,772...92,157,022
Ensembl chr 3:92,135,637...92,157,014 		JBrowse link
G Pdcd1 programmed cell death 1 treatment ISO CTD Direct Evidence: therapeutic
associated with influenza		 CTD
RGD		 PMID:21802280 PMID:27760326 RGD:40818261 NCBI chr 9:94,418,786...94,431,945
Ensembl chr 9:94,418,791...94,431,937 		JBrowse link
G Pdgfra platelet derived growth factor receptor alpha ISO ClinVar Annotator: match by term: Melanoma ClinVar PMID:24132921 PMID:28492532 NCBI chr14:33,005,838...33,054,347
Ensembl chr14:33,005,839...33,054,335 		JBrowse link
G Phgdh phosphoglycerate dehydrogenase ISO CTD Direct Evidence: marker/mechanism CTD PMID:21804546 NCBI chr 2:185,906,962...185,936,054
Ensembl chr 2:185,906,966...185,935,944 		JBrowse link
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha ISO ClinVar Annotator: match by term: Malignant melanoma, somatic | ClinVar Annotator: match by term: Melanoma ClinVar PMID:15016963 PMID:15254419 PMID:15520168 PMID:15608678 PMID:15647370 More... NCBI chr 2:115,175,275...115,249,034
Ensembl chr 2:115,174,984...115,249,032 		JBrowse link
G Pik3r1 phosphoinositide-3-kinase regulatory subunit 1 ISO ClinVar Annotator: match by term: Malignant melanoma, somatic ClinVar PMID:25157968 PMID:25741868 PMID:26619011 NCBI chr 2:32,878,942...32,963,668
Ensembl chr 2:32,882,032...32,963,631 		JBrowse link
G Pip4k2a phosphatidylinositol-5-phosphate 4-kinase type 2 alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr17:81,496,669...81,668,180
Ensembl chr17:81,496,670...81,668,029 		JBrowse link
G Pkmyt1 protein kinase, membrane associated tyrosine/threonine 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr10:12,748,221...12,758,995
Ensembl chr10:12,748,237...12,758,995 		JBrowse link
G Plcb4 phospholipase C, beta 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21499247 NCBI chr 3:122,952,965...123,322,522
Ensembl chr 3:122,953,196...123,322,392 		JBrowse link
G Pmel premelanosome protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:26640592 NCBI chr 7:1,138,202...1,148,735
Ensembl chr 7:1,138,586...1,148,746 		JBrowse link
G Pomc proopiomelanocortin ISO CTD Direct Evidence: therapeutic CTD PMID:24412703 NCBI chr 6:26,939,844...26,945,666
Ensembl chr 6:26,939,837...26,945,664 		JBrowse link
G Pot1 protection of telomeres 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: MELANOMA, MALIGNANT
ClinVar Annotator: match by term: Malignant melanoma, somatic		 CTD
ClinVar		 PMID:24686846 PMID:24686849 PMID:25741868 PMID:26467025 PMID:28492532 More... NCBI chr 4:54,205,330...54,263,137
Ensembl chr 4:54,205,332...54,263,042 		JBrowse link
G Ppard peroxisome proliferator-activated receptor delta ISO CTD Direct Evidence: therapeutic CTD PMID:28962521 NCBI chr20:6,298,785...6,363,970
Ensembl chr20:6,298,785...6,363,968 		JBrowse link
G Pparg peroxisome proliferator-activated receptor gamma ISO CTD Direct Evidence: marker/mechanism|therapeutic CTD PMID:14512786 PMID:28962521 NCBI chr 4:148,423,102...148,548,471
Ensembl chr 4:148,423,194...148,548,468 		JBrowse link
G Ppargc1a PPARG coactivator 1 alpha severity ISO mRNA:increased expression:tumor (human) RGD PMID:23416000 RGD:7241823 NCBI chr14:58,860,752...59,516,525
Ensembl chr14:58,861,144...59,512,656 		JBrowse link
G Ppp1r14b protein phosphatase 1, regulatory (inhibitor) subunit 14B ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr 1:204,165,210...204,167,320
Ensembl chr 1:204,163,299...204,167,319 		JBrowse link
G Ppp6c protein phosphatase 6, catalytic subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:22842228 NCBI chr 3:22,929,816...22,962,123
Ensembl chr 3:22,931,577...22,962,113 		JBrowse link
G Pramex1 PRAME like, X-linked 1 ISO mRNA:increased expression:skin of body (human)
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:16179254 PMID:27505074 PMID:9047241 RGD:11535038, RGD:11535062 NCBI chr  X:98,567,994...98,574,654
Ensembl chr  X:98,569,415...98,572,096 		JBrowse link
G Prdx2 peroxiredoxin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16778180 NCBI chr19:23,180,927...23,186,217
Ensembl chr19:23,180,930...23,186,194 		JBrowse link
G Prss23 serine protease 23 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr 1:143,402,725...143,422,182
Ensembl chr 1:143,401,396...143,422,091 		JBrowse link
G Pten phosphatase and tensin homolog ISO ClinVar Annotator: match by term: Malignant melanoma, somatic | ClinVar Annotator: match by term: Melanoma
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
RGD		 PMID:1097835 PMID:1945792 PMID:9467011 PMID:9915974 PMID:10866302 More... RGD:2290476 NCBI chr 1:230,630,443...230,697,070
Ensembl chr 1:230,630,338...230,696,838 		JBrowse link
G Pter phosphotriesterase related ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr17:76,058,388...76,119,633
Ensembl chr17:76,058,503...76,119,627 		JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17145863 PMID:17499752 PMID:18454317 NCBI chr13:62,163,936...62,172,193
Ensembl chr13:62,163,932...62,172,188 		JBrowse link
G Ptk2b protein tyrosine kinase 2 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:19718025 NCBI chr15:40,360,722...40,481,235
Ensembl chr15:40,360,723...40,481,282 		JBrowse link
G Ptprk protein tyrosine phosphatase, receptor type, K ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 PMID:22842228 NCBI chr 1:16,738,896...17,236,687
Ensembl chr 1:16,850,576...17,103,605 		JBrowse link
G Ptpro protein tyrosine phosphatase, receptor type, O ISO CTD Direct Evidence: marker/mechanism CTD PMID:21499247 NCBI chr 4:170,164,071...170,374,790
Ensembl chr 4:170,164,431...170,374,771 		JBrowse link
G Qpct glutaminyl-peptide cyclotransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:17145863 NCBI chr 6:15,964,656...15,996,730
Ensembl chr 6:15,964,657...15,996,711 		JBrowse link
G Rac1 Rac family small GTPase 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Malignant melanoma, somatic		 CTD
ClinVar		 PMID:22842228 PMID:25056119 PMID:26619011 NCBI chr12:11,037,028...11,057,251
Ensembl chr12:11,036,698...11,057,251 		JBrowse link
G Rac2 Rac family small GTPase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17145863 NCBI chr 7:110,101,344...110,128,718
Ensembl chr 7:110,116,260...110,128,720 		JBrowse link
G Raf1 Raf-1 proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: Malignant melanoma, somatic | ClinVar Annotator: match by term: Melanoma ClinVar PMID:1760348 PMID:10064593 PMID:12077328 PMID:17603482 PMID:17603483 More... NCBI chr 4:148,679,534...148,740,265
Ensembl chr 4:148,679,530...148,740,317 		JBrowse link
G Rai1 retinoic acid induced 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr10:44,913,231...45,008,232
Ensembl chr10:44,947,909...45,008,232 		JBrowse link
G Rap1gap Rap1 GTPase-activating protein ISO protein:decreased expression:epidermal melanocyte (human)
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:19147557 PMID:22614916 PMID:19147557 RGD:9835344 NCBI chr 5:149,873,987...149,939,254
Ensembl chr 5:149,892,019...149,939,253 		JBrowse link
G Rasa2 RAS p21 protein activator 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26214590 PMID:26502337 NCBI chr 8:97,119,983...97,236,687
Ensembl chr 8:97,118,802...97,236,671 		JBrowse link
G Rax retina and anterior neural fold homeobox ISO CTD Direct Evidence: marker/mechanism CTD PMID:16778180 NCBI chr18:59,463,347...59,467,469
Ensembl chr18:59,463,737...59,467,431 		JBrowse link
G Rec8 REC8 meiotic recombination protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:16778180 NCBI chr15:29,109,862...29,117,327
Ensembl chr15:29,109,863...29,117,326 		JBrowse link
G Rfx6 regulatory factor X, 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr20:31,019,784...31,073,266
Ensembl chr20:31,019,829...31,073,147 		JBrowse link
G Rhob ras homolog family member B IDA RGD PMID:12606940 RGD:704376 NCBI chr 6:31,363,752...31,365,926
Ensembl chr 6:31,363,548...31,366,108 		JBrowse link
G Rin1 Ras and Rab interactor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr 1:202,355,729...202,362,731
Ensembl chr 1:202,355,890...202,362,729 		JBrowse link
G Rnaset2 ribonuclease T2 ISO human cells in mouse model RGD PMID:27014725 RGD:153002831 NCBI chr 1:52,576,344...52,603,151
Ensembl chr 1:52,585,929...52,603,147 		JBrowse link
G Ros1 ROS proto-oncogene 1 , receptor tyrosine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr20:31,432,636...31,583,998
Ensembl chr20:31,432,637...31,583,865 		JBrowse link
G Rpp38 ribonuclease P/MRP subunit p38 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr17:74,914,066...74,917,742
Ensembl chr17:74,908,932...74,927,431 		JBrowse link
G Rps3 ribosomal protein S3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr 1:153,778,363...153,783,663
Ensembl chr 1:153,777,472...153,783,680 		JBrowse link
G RT1-Ba RT1 class II, locus Ba susceptibility ISO DNA:polymorphisms: : RGD PMID:16433795 RGD:8547661 NCBI chr20:4,575,134...4,579,727
Ensembl chr20:4,575,134...4,579,744 		JBrowse link
G Rtel1 regulator of telomere elongation helicase 1 ISO DNA:SNP:cds:rs75691080 (human) RGD PMID:25231748 RGD:152995261 NCBI chr 3:168,427,247...168,465,349
Ensembl chr 3:168,419,579...168,465,348 		JBrowse link
G S100a4 S100 calcium-binding protein A4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29179997 NCBI chr 2:176,090,951...176,093,258
Ensembl chr 2:176,091,804...176,093,254 		JBrowse link
G Sac3d1 SAC3 domain containing 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr 1:203,414,184...203,416,563
Ensembl chr 1:203,414,187...203,416,604 		JBrowse link
G Sdhd succinate dehydrogenase complex subunit D ISO CTD Direct Evidence: marker/mechanism CTD PMID:25261935 NCBI chr 8:50,944,702...50,954,298
Ensembl chr 8:50,944,704...50,954,238 		JBrowse link
G Setdb1 SET domain bifurcated histone lysine methyltransferase 1 severity ISO protein:increased expression:dermis, subcutis, nucleus (human)
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:21983785 PMID:24673285 RGD:9590162 NCBI chr 2:182,898,738...182,930,283
Ensembl chr 2:182,898,738...182,930,506 		JBrowse link
G Sf1 splicing factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr 1:203,670,016...203,683,432
Ensembl chr 1:203,670,018...203,684,330 		JBrowse link
G Sipa1 signal-induced proliferation-associated 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr 1:202,938,532...202,950,672
Ensembl chr 1:202,938,580...202,950,591 		JBrowse link
G Slc15a2 solute carrier family 15 member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22842228 NCBI chr11:64,014,182...64,043,228
Ensembl chr11:64,014,182...64,043,225 		JBrowse link
G Slc17a5 solute carrier family 17 member 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21499247 NCBI chr 8:79,394,416...79,429,387 JBrowse link
G Slc25a45 solute carrier family 25, member 45 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr 1:203,166,362...203,174,473
Ensembl chr 1:203,166,683...203,174,473 		JBrowse link
G Slc35g2 solute carrier family 35, member G2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16778180 NCBI chr 8:101,085,579...101,113,339
Ensembl chr 8:101,085,545...101,113,349 		JBrowse link
G Slc39a12 solute carrier family 39 member 12 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr17:77,353,761...77,440,384
Ensembl chr17:77,353,805...77,440,353 		JBrowse link
G Slc45a2 solute carrier family 45, member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18563784 PMID:21559390 NCBI chr 2:59,963,599...59,996,408
Ensembl chr 2:59,963,706...59,996,317 		JBrowse link
G Slc5a5 solute carrier family 5 member 5 ISO CTD Direct Evidence: therapeutic CTD PMID:12489024 NCBI chr16:18,546,709...18,556,698
Ensembl chr16:18,546,709...18,556,697 		JBrowse link
G Slc6a11 solute carrier family 6 member 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21499247 NCBI chr 4:147,297,972...147,413,319
Ensembl chr 4:147,297,969...147,413,443 		JBrowse link
G Snapc5 small nuclear RNA activating complex, polypeptide 5 ISO ClinVar Annotator: match by term: Melanoma ClinVar PMID:22197931 NCBI chr 8:64,677,204...64,680,769
Ensembl chr 8:64,677,205...64,681,964 		JBrowse link
G Socs1 suppressor of cytokine signaling 1 ameliorates ISO RGD PMID:19469017 RGD:150573701 NCBI chr10:4,882,651...4,884,342
Ensembl chr10:4,882,560...4,884,383 		JBrowse link
G Sod2 superoxide dismutase 2 ISO protein:increased expression:serum: RGD PMID:8541726 RGD:8547533 NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189 		JBrowse link
G Sox2 SRY-box transcription factor 2 disease_progression ISO RGD PMID:21410764 RGD:8661664 NCBI chr 2:117,536,929...117,539,340
Ensembl chr 2:117,536,929...117,539,338 		JBrowse link
G Spp1 secreted phosphoprotein 1 ISO RGD PMID:15757900 RGD:1581337 NCBI chr14:5,308,885...5,315,120
Ensembl chr14:5,308,885...5,315,162 		JBrowse link
G Stip1 stress-induced phosphoprotein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr 1:204,209,433...204,228,452
Ensembl chr 1:204,178,932...204,228,476 		JBrowse link
G Stk11 serine/threonine kinase 11 ISO ClinVar Annotator: match by term: MELANOMA, MALIGNANT | ClinVar Annotator: match by term: Melanoma ClinVar PMID:10201537 PMID:10208439 PMID:23555315 PMID:23993471 PMID:24033266 More... NCBI chr 7:9,574,553...9,591,315
Ensembl chr 7:9,575,269...9,591,315 		JBrowse link
G Stk19 serine/threonine kinase 19 ISO ClinVar Annotator: match by term: Malignant melanoma, somatic ClinVar PMID:26619011 NCBI chr20:3,995,590...4,005,117
Ensembl chr20:3,995,587...4,005,116 		JBrowse link
G Stn1 STN1 subunit of CST complex ISO DNA:SNP:cds:rs9420907|rs2995264 (human) RGD PMID:25231748 RGD:152995261 NCBI chr 1:246,391,311...246,429,844
Ensembl chr 1:246,395,613...246,429,531 		JBrowse link
G Stx17 syntaxin 17 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18641652 NCBI chr 5:62,446,138...62,506,108
Ensembl chr 5:62,446,187...62,504,451 		JBrowse link
G Suz12 SUZ12 polycomb repressive complex 2 subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:25119042 NCBI chr10:64,967,035...65,012,916
Ensembl chr10:64,966,967...65,012,738 		JBrowse link
G Syk spleen associated tyrosine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:17145863 NCBI chr17:12,604,615...12,678,437
Ensembl chr17:12,604,619...12,661,410 		JBrowse link
G Syt4 synaptotagmin 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21499247 NCBI chr18:23,036,973...23,046,380
Ensembl chr18:23,038,378...23,046,332 		JBrowse link
G Tas2r135 taste receptor, type 2, member 135 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21499247 NCBI chr 4:71,292,912...71,293,877
Ensembl chr 4:71,292,912...71,293,877 		JBrowse link
G Terc telomerase RNA component ISO RNA:increased expression:plasma
DNA:SNP:cds:rs10936599|rs12696304 (human)		 RGD PMID:14654933 PMID:25231748 RGD:2291969, RGD:152995261 NCBI chr 2:112,815,654...112,816,041 JBrowse link
G Tert telomerase reverse transcriptase ISO mRNA:increased expression:plasma
DNA:SNP:cds:rs455433|rs2736100 (human)
CTD Direct Evidence: therapeutic		 CTD
RGD		 PMID:20856939 PMID:14654933 PMID:25231748 RGD:2291969, RGD:152995261 NCBI chr 1:29,637,213...29,659,561
Ensembl chr 1:29,637,506...29,659,561 		JBrowse link
G Tfpi2 tissue factor pathway inhibitor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17372906 NCBI chr 4:31,981,786...31,986,707
Ensembl chr 4:31,982,178...31,986,600 		JBrowse link
G Tlr4 toll-like receptor 4 ISO DNA:polymorphisms:exons:p.D299G (896A>G)(human;)
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:22842228 PMID:22552381 RGD:7777154 NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628 		JBrowse link
G Tmem132b transmembrane protein 132B ISO CTD Direct Evidence: marker/mechanism CTD PMID:21499247 NCBI chr12:30,829,831...31,093,841
Ensembl chr12:30,832,605...31,093,896 		JBrowse link
G Tmem30b transmembrane protein 30B ISO CTD Direct Evidence: marker/mechanism CTD PMID:16778180 NCBI chr 6:92,251,626...92,254,702
Ensembl chr 6:92,249,790...92,254,842 		JBrowse link
G Tnc tenascin C ISO CTD Direct Evidence: marker/mechanism CTD PMID:22842228 NCBI chr 5:77,375,851...77,460,712
Ensembl chr 5:77,375,851...77,460,624 		JBrowse link
G Tnf tumor necrosis factor ISO CTD Direct Evidence: therapeutic CTD PMID:9794839 PMID:9843018 PMID:10379864 PMID:18388930 NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629 		JBrowse link
G Tnfrsf19 TNF receptor superfamily member 19 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17187358 NCBI chr15:35,092,206...35,158,472
Ensembl chr15:35,092,206...35,180,795 		JBrowse link
G Tp53 tumor protein p53 ISO ClinVar Annotator: match by term: Malignant melanoma, somatic | ClinVar Annotator: match by term: Melanoma
ClinVar Annotator: match by term: Malignant melanoma | ClinVar Annotator: match by term: Malignant melanoma, somatic
ClinVar Annotator: match by term: MELANOMA, MALIGNANT | ClinVar Annotator: match by term: Malignant melanoma, somatic
CTD Direct Evidence: marker/mechanism
DNA:polymorphism:cds:p.R72P(human)		 ClinVar
CTD
RGD		 PMID:253702 PMID:1349175 PMID:1359493 PMID:1565143 PMID:1565144 More... RGD:8547796, RGD:8547833 NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524 		JBrowse link
G Trrap transformation/transcription domain-associated protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:21499247 NCBI chr12:9,738,006...9,827,708
Ensembl chr12:9,738,006...9,827,674 		JBrowse link
G Tspyl4 TSPY-like 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr20:38,098,756...38,100,752
Ensembl chr20:38,098,677...38,103,053 		JBrowse link
G Tyr tyrosinase disease_progression ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:18488027 PMID:19578364 PMID:21559390 PMID:26640592 PMID:8609659 More... RGD:8694384, RGD:8694387 NCBI chr 1:141,115,036...141,210,207
Ensembl chr 1:141,115,036...141,210,207 		JBrowse link
G Tyrp1 tyrosinase-related protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26640592 NCBI chr 5:95,280,982...95,299,516
Ensembl chr 5:95,280,982...95,299,516 		JBrowse link
G Usp6nl USP6 N-terminal like ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr17:71,828,433...71,956,878
Ensembl chr17:71,830,469...71,956,027 		JBrowse link
G Vdr vitamin D receptor severity
disease_progression		 ISO DNA:SNP:promoter:rs4516035 (human)
DNA:SNPs:exons: (rs731236, rs2228570) (human)		 RGD PMID:19105801 PMID:10690530 RGD:8158067, RGD:8158068 NCBI chr 7:128,987,981...129,037,677
Ensembl chr 7:128,987,981...129,037,677 		JBrowse link
G Vegfa vascular endothelial growth factor A disease_progression ISO RGD PMID:12946796 RGD:7421569 NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641 		JBrowse link
G Vegfc vascular endothelial growth factor C ISO CTD Direct Evidence: marker/mechanism CTD PMID:17562445 NCBI chr16:37,712,251...37,827,845
Ensembl chr16:37,712,262...37,827,848 		JBrowse link
G Vgll2 vestigial-like family member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr20:31,409,529...31,415,408
Ensembl chr20:31,409,552...31,415,408 		JBrowse link
G Wdr74 WD repeat domain 74 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr 1:205,631,769...205,636,558
Ensembl chr 1:205,631,824...205,636,563 		JBrowse link
G Wfdc1 WAP four-disulfide core domain 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17145863 NCBI chr19:47,720,191...47,739,121
Ensembl chr19:47,720,423...47,739,108 		JBrowse link
G Xrcc3 X-ray repair cross complementing 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11059748 PMID:15118671 RGD:1331525 NCBI chr 6:130,863,405...130,873,765
Ensembl chr 6:130,863,959...130,872,444 		JBrowse link
G Zfp438 zinc finger protein 438 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr17:52,426,221...52,547,472
Ensembl chr17:52,426,221...52,547,472 		JBrowse link
G Zfp831 zinc finger protein 831 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21499247 NCBI chr 3:163,393,787...163,510,654
Ensembl chr 3:163,438,006...163,509,095 		JBrowse link
amelanotic melanoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ifnb1 interferon beta 1 ISO CTD Direct Evidence: therapeutic CTD PMID:15990972 NCBI chr 5:103,020,758...103,021,595
Ensembl chr 5:103,020,969...103,021,523 		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 3:139,450,383...139,500,325
Ensembl chr 3:139,450,383...139,500,325 		JBrowse link
G Acss2 acyl-CoA synthetase short-chain family member 2 treatment ISO RGD PMID:27539851 RGD:13831304 NCBI chr 3:144,003,808...144,047,452
Ensembl chr 3:144,004,336...144,059,675 		JBrowse link
G Antxr1 ANTXR cell adhesion molecule 1 treatment ISO RGD PMID:19622764 PMID:19609240 RGD:9684925, RGD:9684939 NCBI chr 4:119,590,770...119,778,232
Ensembl chr 4:119,590,771...119,778,232 		JBrowse link
G Braf B-Raf proto-oncogene, serine/threonine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:29179997 PMID:29438700 NCBI chr 4:68,375,484...68,510,652
Ensembl chr 4:68,384,649...68,510,463 		JBrowse link
G Calr calreticulin ISO CTD Direct Evidence: therapeutic CTD PMID:16388313 NCBI chr19:23,308,525...23,313,420
Ensembl chr19:23,308,351...23,313,414 		JBrowse link
G Ccl20 C-C motif chemokine ligand 20 treatment ISO RGD PMID:14500387 RGD:7483600 NCBI chr 9:84,389,031...84,391,629
Ensembl chr 9:84,388,904...84,391,629 		JBrowse link
G Ctla4 cytotoxic T-lymphocyte-associated protein 4 treatment ISO RGD PMID:24041689 RGD:7411680 NCBI chr 9:62,318,874...62,325,978
Ensembl chr 9:62,319,312...62,324,963 		JBrowse link
G Egr1 early growth response 1 ISO mRNA, protein:increased expression:salivary gland (mouse) RGD PMID:19517020 RGD:5131885 NCBI chr18:26,462,967...26,466,766
Ensembl chr18:26,462,981...26,466,766 		JBrowse link
G Esr2 estrogen receptor 2 severity ISO RGD PMID:20354658 RGD:8694122 NCBI chr 6:94,858,438...94,909,630
Ensembl chr 6:94,809,547...94,908,919 		JBrowse link
G Hgf hepatocyte growth factor ISO RGD PMID:9823327 RGD:8548620 NCBI chr 4:18,673,736...18,745,582
Ensembl chr 4:18,677,101...18,745,409 		JBrowse link
G Ifnb1 interferon beta 1 ISO CTD Direct Evidence: therapeutic CTD PMID:16417267 NCBI chr 5:103,020,758...103,021,595
Ensembl chr 5:103,020,969...103,021,523 		JBrowse link
G Ikbkb inhibitor of nuclear factor kappa B kinase subunit beta ISO RGD PMID:19276165 RGD:7495758 NCBI chr16:69,319,487...69,373,251
Ensembl chr16:69,319,554...69,373,250 		JBrowse link
G Il18 interleukin 18 treatment ISO RGD PMID:12230493 PMID:17411412 RGD:8655870, RGD:8655901 NCBI chr 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887 		JBrowse link
G Il1a interleukin 1 alpha treatment ISO RGD PMID:8061895 RGD:7794735 NCBI chr 3:116,526,601...116,537,055
Ensembl chr 3:116,526,604...116,536,822 		JBrowse link
G Il1b interleukin 1 beta ISO RGD PMID:1966551 RGD:7401226 NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415 		JBrowse link
G Il2 interleukin 2 ISO RGD PMID:11884028 RGD:8662950 NCBI chr 2:120,004,862...120,009,566
Ensembl chr 2:120,004,862...120,009,566 		JBrowse link
G Kdm1a lysine demethylase 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:29438700 NCBI chr 5:148,782,976...148,838,319
Ensembl chr 5:148,782,976...148,838,319 		JBrowse link
G Kdm4c lysine demethylase 4C ISO CTD Direct Evidence: marker/mechanism CTD PMID:29438700 NCBI chr 5:88,100,710...88,306,821
Ensembl chr 5:88,100,733...88,306,818 		JBrowse link
G Mc1r melanocortin 1 receptor ISO RGD PMID:20126537 RGD:5687319 NCBI chr19:51,452,448...51,455,375
Ensembl chr19:51,453,239...51,454,192 		JBrowse link
G Pdcd1 programmed cell death 1 treatment ISO RGD PMID:19208793 RGD:9589070 NCBI chr 9:94,418,786...94,431,945
Ensembl chr 9:94,418,791...94,431,937 		JBrowse link
G Pten phosphatase and tensin homolog ISO CTD Direct Evidence: marker/mechanism CTD PMID:29179997 NCBI chr 1:230,630,443...230,697,070
Ensembl chr 1:230,630,338...230,696,838 		JBrowse link
G Pxn paxillin ISO CTD Direct Evidence: marker/mechanism CTD PMID:18492274 NCBI chr12:41,060,791...41,107,952
Ensembl chr12:41,060,791...41,107,931 		JBrowse link
G Tert telomerase reverse transcriptase treatment ISO RGD PMID:19903903 RGD:11038656 NCBI chr 1:29,637,213...29,659,561
Ensembl chr 1:29,637,506...29,659,561 		JBrowse link
familial melanoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Agap2 ArfGAP with GTPase domain, ankyrin repeat and PH domain 2 ISO ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:28492532 NCBI chr 7:62,897,282...62,914,295
Ensembl chr 7:62,897,282...62,914,295 		JBrowse link
G Arhgap9 Rho GTPase activating protein 9 ISO ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:28492532 NCBI chr 7:63,148,573...63,157,025
Ensembl chr 7:63,148,900...63,157,524 		JBrowse link
G Arhgef25 Rho guanine nucleotide exchange factor 25 ISO ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:28492532 NCBI chr 7:63,005,938...63,013,325
Ensembl chr 7:63,005,940...63,013,719 		JBrowse link
G B4galnt1 beta-1,4-N-acetyl-galactosaminyl transferase 1 ISO ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:28492532 NCBI chr 7:62,988,429...62,996,190
Ensembl chr 7:62,988,930...62,996,190 		JBrowse link
G Bap1 Brca1 associated protein 1 ISO ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:21874000 PMID:23684012 PMID:25741868 PMID:28492532 NCBI chr16:6,446,709...6,455,535
Ensembl chr16:6,446,709...6,455,535 		JBrowse link
G Braf B-Raf proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: MELANOMA AND RENAL CELL CARCINOMA, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 1 ClinVar
OMIM		 PMID:2500657 PMID:16439621 PMID:16474404 PMID:17366577 PMID:17551924 More... NCBI chr 4:68,375,484...68,510,652
Ensembl chr 4:68,384,649...68,510,463 		JBrowse link
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, 3 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5
ClinVar Annotator: match by term: Cutaneous Malignant Melanoma, Dominant | 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, 3 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5
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: Cutaneous malignant melanoma 5 | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5
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: Melanoma, cutaneous malignant, susceptibility to, 5		 OMIM
ClinVar		 PMID:5377176 PMID:7652577 PMID:8528263 PMID:8968104 PMID:9228064 More... NCBI chr 7:62,886,124...62,889,562
Ensembl chr 7:62,883,105...62,942,403 		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 AND RENAL CELL CARCINOMA, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 1 | 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: Melanoma, cutaneous malignant, susceptibility to, 5
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: Familial melanoma | ClinVar Annotator: match by term: Hereditary cutaneous melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 1 | 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
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, 3 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5
ClinVar Annotator: match by term: Cutaneous Malignant Melanoma, Dominant | 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: 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
ClinVar Annotator: match by term: Cutaneous malignant melanoma 5 | 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, 3 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5
ClinVar Annotator: match by term: Cutaneous Malignant Melanoma, Dominant | 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, 3 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5		 OMIM
ClinVar		 PMID:539244 PMID:649266 PMID:865368 PMID:1038976 PMID:2319082 More... NCBI chr 5:103,984,949...103,992,143
Ensembl chr 5:103,984,949...104,003,149 		JBrowse link
G Cdkn2b cyclin-dependent kinase inhibitor 2B ISO ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:9622062 PMID:28492532 NCBI chr 5:104,009,839...104,019,082
Ensembl chr 5:104,010,680...104,019,050 		JBrowse link
G Cyp27b1 cytochrome P450, family 27, subfamily b, polypeptide 1 ISO ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:28492532 NCBI chr 7:62,869,340...62,876,242
Ensembl chr 7:62,871,297...62,876,241 		JBrowse link
G Dctn2 dynactin subunit 2 ISO ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:28492532 NCBI chr 7:63,092,061...63,107,560
Ensembl chr 7:63,092,057...63,108,543 		JBrowse link
G Ddit3 DNA-damage inducible transcript 3 ISO ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:28492532 NCBI chr 7:63,115,645...63,121,203
Ensembl chr 7:63,116,380...63,121,201 		JBrowse link
G Dnah1 dynein, axonemal, heavy chain 1 ISO ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:21874000 PMID:23684012 PMID:25741868 PMID:28492532 NCBI chr16:6,455,514...6,517,103
Ensembl chr16:6,456,002...6,518,350 		JBrowse link
G Dtx3 deltex E3 ubiquitin ligase 3 ISO ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:28492532 NCBI chr 7:63,013,769...63,018,431
Ensembl chr 7:63,013,371...63,018,522 		JBrowse link
G Eef1akmt3 EEF1A lysine methyltransferase 3 ISO ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:28492532 NCBI chr 7:62,853,304...62,864,558
Ensembl chr 7:62,854,899...62,864,617 		JBrowse link
G Fanca FA complementation group A ISO ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 ClinVar PMID:28492532 NCBI chr19:51,304,126...51,362,586
Ensembl chr19:51,304,021...51,362,527 		JBrowse link
G Gli1 GLI family zinc finger 1 ISO ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:28492532 NCBI chr 7:63,156,926...63,169,579
Ensembl chr 7:63,156,926...63,169,251 		JBrowse link
G Inhbc inhibin subunit beta C ISO ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:28492532 NCBI chr 7:63,184,141...63,197,630
Ensembl chr 7:63,184,142...63,197,630 		JBrowse link
G Inhbe inhibin subunit beta E ISO ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:28492532 NCBI chr 7:63,176,221...63,179,209
Ensembl chr 7:63,176,219...63,179,172 		JBrowse link
G Kif5a kinesin family member 5A ISO ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:28492532 NCBI chr 7:63,051,894...63,089,024
Ensembl chr 7:63,049,424...63,092,858 		JBrowse link
G Klc1 kinesin light chain 1 ISO ClinVar Annotator: match by term: Cutaneous malignant melanoma 6 ClinVar PMID:11059748 PMID:25741868 PMID:28492532 NCBI chr 6:130,823,416...130,866,729
Ensembl chr 6:130,823,419...130,867,031 		JBrowse link
G Lrp1 LDL receptor related protein 1 ISO ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:28492532 NCBI chr 7:63,380,325...63,461,029
Ensembl chr 7:63,380,356...63,460,910 		JBrowse link
G Marchf9 membrane associated ring-CH-type finger 9 ISO ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:28492532 NCBI chr 7:62,879,017...62,882,495
Ensembl chr 7:62,879,018...62,882,495 		JBrowse link
G Mars1 methionyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:28492532 NCBI chr 7:63,121,142...63,138,550
Ensembl chr 7:63,121,142...63,138,495 		JBrowse link
G Mbd6 methyl-CpG binding domain protein 6 ISO ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:28492532 NCBI chr 7:63,107,562...63,115,841
Ensembl chr 7:63,107,562...63,113,274 		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
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, 2 | 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:7581459 PMID:8605020 PMID:8894704 PMID:8944016 PMID:8990005 More... NCBI chr19:51,452,448...51,455,375
Ensembl chr19:51,453,239...51,454,192 		JBrowse link
G Mettl1 methyltransferase 1, tRNA methylguanosine ISO ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:28492532 NCBI chr 7:62,864,860...62,869,202
Ensembl chr 7:62,864,853...62,869,202 		JBrowse link
G Mitf melanocyte inducing transcription factor susceptibility ISO ClinVar Annotator: match by term: MELANOMA AND RENAL CELL CARCINOMA, SUSCEPTIBILITY TO
ClinVar Annotator: match by term: MELANOMA AND RENAL CELL CARCINOMA, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 8
ClinVar Annotator: match by term: MELANOMA AND RENAL CELL CARCINOMA, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 8		 ClinVar
OMIM		 PMID:2440678 PMID:8589691 PMID:8659547 PMID:9536098 PMID:10587587 More... NCBI chr 4:130,409,020...130,621,145
Ensembl chr 4:130,409,217...130,621,145 		JBrowse link
G Ndufa4l2 NDUFA4, mitochondrial complex associated like 2 ISO ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:28492532 NCBI chr 7:63,351,021...63,359,010
Ensembl chr 7:63,356,883...63,359,010 		JBrowse link
G Nxph4 neurexophilin 4 ISO ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:28492532 NCBI chr 7:63,367,758...63,376,579
Ensembl chr 7:63,367,761...63,376,579 		JBrowse link
G Os9 OS9, endoplasmic reticulum lectin ISO ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:28492532 NCBI chr 7:62,915,498...62,957,591
Ensembl chr 7:62,915,515...62,943,745 		JBrowse link
G Pip4k2c phosphatidylinositol-5-phosphate 4-kinase type 2 gamma ISO ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:28492532 NCBI chr 7:63,020,004...63,035,086
Ensembl chr 7:63,020,000...63,035,078 		JBrowse link
G Pot1 protection of telomeres 1 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
ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: MELANOMA AND RENAL CELL CARCINOMA, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5
ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 1 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5
ClinVar Annotator: match by term: Cutaneous Malignant Melanoma, Dominant | 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, 3 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 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, 2 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 8
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
CTD Direct Evidence: marker/mechanism
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, 5 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 6
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		 ClinVar
OMIM
CTD		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:19461895 PMID:19763152 More... NCBI chr 4:54,205,330...54,263,137
Ensembl chr 4:54,205,332...54,263,042 		JBrowse link
G R3hdm2 R3H domain containing 2 ISO ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:28492532 NCBI chr 7:63,212,519...63,340,574
Ensembl chr 7:63,232,346...63,340,540 		JBrowse link
G Shmt2 serine hydroxymethyltransferase 2 ISO ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:28492532 NCBI chr 7:63,358,961...63,364,293
Ensembl chr 7:63,358,961...63,364,236 		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 chr19:51,373,368...51,411,920
Ensembl chr19:51,373,228...51,411,920 		JBrowse link
G Stac3 SH3 and cysteine rich domain 3 ISO ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:28492532 NCBI chr 7:63,343,078...63,350,590
Ensembl chr 7:63,343,186...63,350,589 		JBrowse link
G Stk11 serine/threonine kinase 11 ISO ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 1 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 ClinVar
OMIM		 PMID:9536098 PMID:9887330 PMID:10201537 PMID:10208439 PMID:10676634 More... NCBI chr 7:9,574,553...9,591,315
Ensembl chr 7:9,575,269...9,591,315 		JBrowse link
G Tcf25 transcription factor 25 ISO ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 ClinVar PMID:28492532 NCBI chr19:51,415,341...51,449,725
Ensembl chr19:51,415,543...51,449,723 		JBrowse link
G Tert telomerase reverse transcriptase ISO ClinVar Annotator: match by term: Cutaneous malignant melanoma 9 | ClinVar Annotator: match by term: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 9 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 1 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 9
ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 9 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 1 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 9		 OMIM
ClinVar		 PMID:20871597 PMID:21436073 PMID:22037553 PMID:23066086 PMID:23348503 More... NCBI chr 1:29,637,213...29,659,561
Ensembl chr 1:29,637,506...29,659,561 		JBrowse link
G Tp53 tumor protein p53 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 PMID:29979965 PMID:30224644 NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524 		JBrowse link
G Tsfm Ts translation elongation factor, mitochondrial ISO ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:28492532 NCBI chr 7:62,828,997...62,864,784
Ensembl chr 7:62,845,488...62,864,769 		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, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5
ClinVar Annotator: match by term: Cutaneous Malignant Melanoma, Dominant | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3
ClinVar Annotator: match by term: Cutaneous Malignant Melanoma, Dominant | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5		 ClinVar PMID:9536098 PMID:17576681 PMID:20668451 PMID:21520333 PMID:23718828 More... NCBI chr 7:62,889,552...62,892,428
Ensembl chr 7:62,889,552...62,898,388 		JBrowse link
G Tyr tyrosinase ISO ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10
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 1:141,115,036...141,210,207
Ensembl chr 1:141,115,036...141,210,207 		JBrowse link
G Xrcc3 X-ray repair cross complementing 3 ISO ClinVar Annotator: match by term: Cutaneous malignant melanoma 6 ClinVar
OMIM		 PMID:11059748 PMID:25741868 PMID:28492532 NCBI chr 6:130,863,405...130,873,765
Ensembl chr 6:130,863,959...130,872,444 		JBrowse link
melanoma and neural system tumor syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdkn2a cyclin-dependent kinase inhibitor 2A ISO ClinVar Annotator: match by term: Melanoma and neural system tumor syndrome | ClinVar Annotator: match by term: Melanoma astrocytoma syndrome
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:865368 PMID:2677576 PMID:5001868 PMID:7566978 PMID:7640518 More... NCBI chr 5:103,984,949...103,992,143
Ensembl chr 5:103,984,949...104,003,149 		JBrowse link
Melanoma-Pancreatic Cancer Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdkn2a cyclin-dependent kinase inhibitor 2A ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Melanoma-pancreatic cancer syndrome		 OMIM
CTD
ClinVar		 PMID:2319082 PMID:2813514 PMID:5001868 PMID:7566978 PMID:7632931 More... NCBI chr 5:103,984,949...103,992,143
Ensembl chr 5:103,984,949...104,003,149 		JBrowse link
ocular melanoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bap1 Brca1 associated protein 1 ISO ClinVar Annotator: match by term: Intraocular melanoma ClinVar PMID:25741868 NCBI chr16:6,446,709...6,455,535
Ensembl chr16:6,446,709...6,455,535 		JBrowse link
G Tmem127 transmembrane protein 127 ISO ClinVar Annotator: match by term: Intraocular melanoma ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:114,466,095...114,478,894
Ensembl chr 3:114,466,171...114,477,519 		JBrowse link
skin melanoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aff4 ALF transcription elongation factor 4 disease_progression ISO RGD PMID:33417923 RGD:155631266 NCBI chr10:37,498,825...37,579,751
Ensembl chr10:37,498,825...37,579,751 		JBrowse link
G Agt angiotensinogen ISO protein:increased expression:serum RGD PMID:19394758 RGD:8548874 NCBI chr19:52,529,139...52,549,618
Ensembl chr19:52,529,185...52,540,977 		JBrowse link
G Akt1 AKT serine/threonine kinase 1 ISO ClinVar Annotator: match by term: Cutaneous melanoma ClinVar PMID:17611497 PMID:18256540 PMID:18392055 PMID:18504432 PMID:18611285 More... NCBI chr 6:131,713,716...131,735,319
Ensembl chr 6:131,713,720...131,733,921 		JBrowse link
G Araf A-Raf proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: Malignant melanoma of skin ClinVar PMID:24569458 PMID:26619011 NCBI chr  X:1,227,392...1,292,356
Ensembl chr  X:1,227,392...1,239,073 		JBrowse link
G Arhgap44 Rho GTPase activating protein 44 severity ISO DNA:SNP:intron: (rs72635537) (human) RGD PMID:28510328 RGD:401901274 NCBI chr10:49,655,583...49,822,876
Ensembl chr10:49,655,584...49,824,297 		JBrowse link
G B2m beta-2 microglobulin ISO ClinVar Annotator: match by term: Cutaneous melanoma ClinVar PMID:26619011 NCBI chr 3:109,095,740...109,101,764
Ensembl chr 3:109,095,729...109,101,766 		JBrowse link
G Bcl2l12 Bcl2 like 12 ISO ClinVar Annotator: match by term: Cutaneous melanoma ClinVar PMID:26619011 NCBI chr 1:95,472,272...95,480,991
Ensembl chr 1:95,472,272...95,480,991 		JBrowse link
G Birc2 baculoviral IAP repeat-containing 2 exacerbates ISO mRNA:increased expression:zone of skin (human) RGD PMID:31964418 RGD:153344516 NCBI chr 8:4,968,856...4,989,325
Ensembl chr 8:4,968,842...4,988,732 		JBrowse link
G Braf B-Raf proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: Cutaneous melanoma | ClinVar Annotator: match by term: DYSPLASTIC NEVUS SYNDROME, HEREDITARY | ClinVar Annotator: match by term: Malignant melanoma of skin ClinVar PMID:2493360 PMID:2500657 PMID:12068308 PMID:12198537 PMID:12447372 More... NCBI chr 4:68,375,484...68,510,652
Ensembl chr 4:68,384,649...68,510,463 		JBrowse link
G Brca2 BRCA2, DNA repair associated disease_progression ISO DNA:SNP: :rs206118, rs3752447, rs10492396 (human) RGD PMID:25243787 RGD:11344896 NCBI chr12:59,492...103,789
Ensembl chr12:59,819...100,567 		JBrowse link
G Ccl2 C-C motif chemokine ligand 2 disease_progression ISO DNA:SNP: :2578A>G (human) RGD PMID:17169533 RGD:9491398 NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226 		JBrowse link
G Cd40 CD40 molecule disease_progression ISO RGD PMID:8952530 RGD:8547772 NCBI chr 3:153,790,372...153,805,279
Ensembl chr 3:153,790,449...153,805,534 		JBrowse link
G Cdk4 cyclin-dependent kinase 4 ISO ClinVar Annotator: match by term: Malignant melanoma of skin ClinVar PMID:5377176 PMID:7652577 PMID:8528263 PMID:8968104 PMID:9228064 More... NCBI chr 7:62,886,124...62,889,562
Ensembl chr 7:62,883,105...62,942,403 		JBrowse link
G Cdkn2a cyclin-dependent kinase inhibitor 2A ISO DNA:frameshift mutations, deletions:cds:multiple (human)
ClinVar Annotator: match by term: Cutaneous melanoma
ClinVar Annotator: match by term: Cutaneous melanoma | ClinVar Annotator: match by term: Malignant melanoma of skin
DNA:missense mutation:exon:p.P48L (human)		 ClinVar
RGD		 PMID:7777060 PMID:7777061 PMID:7780957 PMID:8521414 PMID:8573142 More... RGD:8552276, RGD:8552302 NCBI chr 5:103,984,949...103,992,143
Ensembl chr 5:103,984,949...104,003,149 		JBrowse link
G Chaf1b chromatin assembly factor 1 subunit B severity ISO protein:increased expression:skin: RGD PMID:20178651 RGD:9587476 NCBI chr11:33,200,894...33,221,076
Ensembl chr11:33,200,981...33,221,070 		JBrowse link
G Cnot9 CCR4-NOT transcription complex subunit 9 ISO ClinVar Annotator: match by term: Malignant melanoma of skin ClinVar PMID:25741868 PMID:26619011 NCBI chr 9:76,084,269...76,109,111
Ensembl chr 9:76,084,334...76,109,100 		JBrowse link
G Crebbp CREB binding protein ISO ClinVar Annotator: match by term: Cutaneous melanoma ClinVar PMID:21390126 PMID:21680795 PMID:21796119 PMID:22832583 PMID:23334668 More... NCBI chr10:11,335,551...11,461,888
Ensembl chr10:11,335,953...11,461,888 		JBrowse link
G Crnkl1 crooked neck pre-mRNA splicing factor 1 ISO ClinVar Annotator: match by term: Cutaneous melanoma ClinVar PMID:26619011 NCBI chr 3:133,338,593...133,354,329
Ensembl chr 3:133,337,039...133,354,302
Ensembl chr 6:133,337,039...133,354,302 		JBrowse link
G Ctcf CCCTC-binding factor ISO DNA:mutations:multiple (human) RGD PMID:27974201 RGD:151356739 NCBI chr19:33,521,726...33,571,124
Ensembl chr19:33,529,319...33,571,123 		JBrowse link
G Ctnnb1 catenin beta 1 ISO ClinVar Annotator: match by term: Cutaneous melanoma | ClinVar Annotator: match by term: Malignant melanoma of skin ClinVar PMID:9065402 PMID:9065403 PMID:9294210 PMID:9500465 PMID:9927029 More... NCBI chr 8:120,640,008...120,667,110
Ensembl chr 8:120,639,995...120,667,111 		JBrowse link
G Ddr1 discoidin domain receptor tyrosine kinase 1 severity
treatment		 ISO protein:increased expression:skin lesion (human)
human cells in mouse model; DDR1-IN-1		 RGD PMID:31271515 PMID:31271515 RGD:151347864, RGD:151347864 NCBI chr20:3,042,494...3,064,442
Ensembl chr20:3,044,320...3,064,468 		JBrowse link
G Dnmt3b DNA methyltransferase 3 beta disease_progression ISO RGD PMID:21081840 RGD:9589074 NCBI chr 3:142,130,588...142,169,128
Ensembl chr 3:142,130,592...142,169,124 		JBrowse link
G Erbb2 erb-b2 receptor tyrosine kinase 2 ISO ClinVar Annotator: match by term: Cutaneous melanoma ClinVar PMID:18413839 PMID:22046346 PMID:23220880 PMID:25157968 PMID:26619011 NCBI chr10:83,411,197...83,435,078
Ensembl chr10:83,411,313...83,435,078 		JBrowse link
G Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit ISO ClinVar Annotator: match by term: Malignant melanoma of skin ClinVar PMID:23023262 PMID:24563539 PMID:26619011 NCBI chr 4:76,624,399...76,687,362
Ensembl chr 4:76,624,399...76,687,362 		JBrowse link
G Fanca FA complementation group A disease_progression ISO DNA:SNP: :rs62068372 (human) RGD PMID:25243787 RGD:11344896 NCBI chr19:51,304,126...51,362,586
Ensembl chr19:51,304,021...51,362,527 		JBrowse link
G Fancd2 FA complementation group D2 ISO mRNA,protein:increased expression:skin,nucleus: RGD PMID:21697891 RGD:11046262 NCBI chr 4:146,679,014...146,743,422
Ensembl chr 4:146,679,179...146,743,412 		JBrowse link
G Fbxw7 F-box and WD repeat domain containing 7 ISO ClinVar Annotator: match by term: Cutaneous melanoma ClinVar PMID:25741868 PMID:26619011 NCBI chr 2:170,149,706...170,311,536
Ensembl chr 2:170,149,694...170,309,941 		JBrowse link
G Gna11 G protein subunit alpha 11 ISO ClinVar Annotator: match by term: Malignant melanoma of skin ClinVar PMID:1328859 PMID:2549426 PMID:21083380 PMID:21444680 PMID:22733540 More... NCBI chr 7:8,163,520...8,177,863
Ensembl chr 7:8,162,750...8,179,812 		JBrowse link
G Gnas GNAS complex locus ISO ClinVar Annotator: match by term: Cutaneous melanoma | ClinVar Annotator: match by term: Malignant melanoma of skin ClinVar PMID:1517386 PMID:1594625 PMID:1944469 PMID:2549426 PMID:3720010 More... NCBI chr 3:163,071,003...163,136,350
Ensembl chr 3:163,071,417...163,127,262
Ensembl chr 3:163,071,417...163,127,262 		JBrowse link
G Gpx1 glutathione peroxidase 1 ISO mRNA:increased expression:skin of body (human) RGD PMID:29535818 RGD:152023655 NCBI chr 8:109,026,905...109,028,031
Ensembl chr 8:109,026,905...109,028,024 		JBrowse link
G Gstm1 glutathione S-transferase mu 1 susceptibility ISO DNA:deletion:: (human) RGD PMID:11352862 RGD:12792221 NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411 		JBrowse link
G Gstt1 glutathione S-transferase theta 1 susceptibility ISO DNA:deletion:: (human) RGD PMID:11352862 RGD:12792221 NCBI chr20:12,856,613...12,873,586
Ensembl chr20:12,856,669...12,873,585 		JBrowse link
G Hif1a hypoxia inducible factor 1 subunit alpha ISO protein:increased expression:epidermis (human) RGD PMID:19558170 RGD:8695922 NCBI chr 6:92,624,059...92,669,262
Ensembl chr 6:92,624,390...92,669,261 		JBrowse link
G Hras HRas proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Cutaneous melanoma | ClinVar Annotator: match by term: Malignant melanoma of skin ClinVar PMID:1904555 PMID:3510078 PMID:11150980 PMID:12835555 PMID:16155195 More... NCBI chr 1:196,290,127...196,299,823
Ensembl chr 1:196,296,263...196,300,615 		JBrowse link
G Icam1 intercellular adhesion molecule 1 disease_progression ISO DNA:missense mutation:exon:p.R241G (human) RGD PMID:16313300 RGD:8547698 NCBI chr 8:19,553,063...19,565,438
Ensembl chr 8:19,553,645...19,565,438 		JBrowse link
G Idh1 isocitrate dehydrogenase (NADP(+)) 1 ISO ClinVar Annotator: match by term: Cutaneous melanoma ClinVar PMID:18772396 PMID:19657110 PMID:19798509 PMID:19818334 PMID:20946881 More... NCBI chr 9:66,534,146...66,563,703
Ensembl chr 9:66,534,146...66,563,708 		JBrowse link
G Kit KIT proto-oncogene receptor tyrosine kinase ISO ClinVar Annotator: match by term: Malignant melanoma of skin ClinVar PMID:7530509 PMID:9438854 PMID:11073817 PMID:11276010 PMID:11526490 More... NCBI chr14:32,547,459...32,624,694
Ensembl chr14:32,548,877...32,624,652 		JBrowse link
G Knstrn kinetochore-localized astrin/SPAG5 binding protein ISO ClinVar Annotator: match by term: Cutaneous melanoma ClinVar PMID:26619011 NCBI chr 3:105,800,762...105,820,555
Ensembl chr 3:105,800,954...105,820,715 		JBrowse link
G Kras KRAS proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Cutaneous melanoma ClinVar PMID:2278970 PMID:3122217 PMID:12460918 PMID:15696205 PMID:16361624 More... NCBI chr 4:178,185,418...178,218,484 JBrowse link
G Lrrc56 leucine rich repeat containing 56 ISO ClinVar Annotator: match by term: Cutaneous melanoma | ClinVar Annotator: match by term: Malignant melanoma of skin
ClinVar Annotator: match by term: Cutaneous melanoma | ClinVar Annotator: match by term: DYSPLASTIC NEVUS SYNDROME, HEREDITARY | ClinVar Annotator: match by term: Malignant melanoma of skin		 ClinVar PMID:1904555 PMID:3510078 PMID:11150980 PMID:12835555 PMID:16155195 More... NCBI chr 1:196,299,843...196,315,170
Ensembl chr 1:196,299,846...196,315,172 		JBrowse link
G Map2k1 mitogen activated protein kinase kinase 1 ISO ClinVar Annotator: match by term: Cutaneous melanoma | ClinVar Annotator: match by term: Malignant melanoma of skin ClinVar PMID:17366577 PMID:17551924 PMID:19915144 PMID:21107320 PMID:22197931 More... NCBI chr 8:64,683,449...64,754,900
Ensembl chr 8:64,683,449...64,755,147 		JBrowse link
G Map2k2 mitogen activated protein kinase kinase 2 ISO ClinVar Annotator: match by term: Malignant melanoma of skin ClinVar PMID:18042262 PMID:26619011 NCBI chr 7:8,590,729...8,610,279
Ensembl chr 7:8,580,905...8,610,243 		JBrowse link
G Mir21 microRNA 21 disease_progression ISO RNA:increased expression:skin (human) RGD PMID:26150475 RGD:11342032 NCBI chr10:71,405,257...71,405,348
Ensembl chr10:71,405,257...71,405,348 		JBrowse link
G Mmp1 matrix metallopeptidase 1 disease_progression ISO DNA:polymorphisms, haplotypes:promoter:multiple
DNA:SNPs, haplotype:promoter:multiple		 RGD PMID:20655738 PMID:22198560 RGD:8549726, RGD:8549727 NCBI chr 8:4,658,588...4,679,099
Ensembl chr 8:4,658,588...4,679,097 		JBrowse link
G Mmp2 matrix metallopeptidase 2 severity ISO mRNA:increased expression:skin RGD PMID:20966734 PMID:12404291 PMID:18251742 RGD:8657055, RGD:13204786, RGD:8657075 NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870 		JBrowse link
G Mmp9 matrix metallopeptidase 9 disease progression ISO DNA:SNP, missense mutations:promoter, cds:-1562C>T,p.R279Q, p.P574R (human) RGD PMID:17346338 PMID:12404291 RGD:8547886, RGD:13204786 NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120 		JBrowse link
G Mtor mechanistic target of rapamycin kinase ISO ClinVar Annotator: match by term: Cutaneous melanoma ClinVar PMID:20190810 PMID:24631838 PMID:25741868 PMID:26018084 PMID:26619011 More... NCBI chr 5:158,884,856...158,994,311
Ensembl chr 5:158,884,804...158,994,311 		JBrowse link
G Myc MYC proto-oncogene, bHLH transcription factor ISO ClinVar Annotator: match by term: Malignant melanoma of skin ClinVar PMID:25157968 PMID:26619011 NCBI chr 7:93,593,705...93,598,633
Ensembl chr 7:93,593,705...93,598,630 		JBrowse link
G Naip6 NLR family, apoptosis inhibitory protein 6 exacerbates ISO mRNA:increased expression:zone of skin (human) RGD PMID:31964418 RGD:153344516 NCBI chr 2:31,507,423...31,559,098
Ensembl chr 2:31,507,424...31,570,542 		JBrowse link
G Nras NRAS proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Cutaneous melanoma ClinVar PMID:1654209 PMID:2278970 PMID:2407301 PMID:2674680 PMID:2989702 More... NCBI chr 2:190,582,885...190,593,509
Ensembl chr 2:190,582,918...190,591,626 		JBrowse link
G Oca2 OCA2 melanosomal transmembrane protein susceptibility ISO DNA:snp:cds:p.R419Q (rs1800407) (human)
DNA:missense mutation:cds:p.H615R (rs1800414) (human)
DNA:snps:exon, intron:multiple (human)		 RGD PMID:19710684 PMID:24617981 PMID:15889046 RGD:9491818, RGD:9491831, RGD:9491829 NCBI chr 1:107,116,278...107,446,093
Ensembl chr 1:107,116,278...107,446,074 		JBrowse link
G Pdcd4 programmed cell death 4 disease_progression ISO mRNA:decreased expression:skin (human) RGD PMID:26150475 RGD:11342032 NCBI chr 1:252,921,342...252,944,278
Ensembl chr 1:252,921,392...252,944,275 		JBrowse link
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha ISO ClinVar Annotator: match by term: Cutaneous melanoma ClinVar PMID:15016963 PMID:15254419 PMID:15520168 PMID:15608678 PMID:15647370 More... NCBI chr 2:115,175,275...115,249,034
Ensembl chr 2:115,174,984...115,249,032 		JBrowse link
G Pik3r1 phosphoinositide-3-kinase regulatory subunit 1 ISO ClinVar Annotator: match by term: Cutaneous melanoma | ClinVar Annotator: match by term: Malignant melanoma of skin ClinVar PMID:19962457 PMID:25157968 PMID:25741868 PMID:26619011 NCBI chr 2:32,878,942...32,963,668
Ensembl chr 2:32,882,032...32,963,631 		JBrowse link
G Pot1 protection of telomeres 1 ISO ClinVar Annotator: match by term: Malignant melanoma of skin
ClinVar Annotator: match by term: DYSPLASTIC NEVUS SYNDROME, HEREDITARY		 ClinVar PMID:24686846 PMID:25741868 PMID:26467025 PMID:28492532 PMID:30451293 More... NCBI chr 4:54,205,330...54,263,137
Ensembl chr 4:54,205,332...54,263,042 		JBrowse link
G Ppp6c protein phosphatase 6, catalytic subunit ISO ClinVar Annotator: match by term: Malignant melanoma of skin ClinVar PMID:26619011 NCBI chr 3:22,929,816...22,962,123
Ensembl chr 3:22,931,577...22,962,113 		JBrowse link
G Pten phosphatase and tensin homolog ISO ClinVar Annotator: match by term: Cutaneous melanoma ClinVar PMID:1945792 PMID:9467011 PMID:9915974 PMID:10866302 PMID:11051241 More... NCBI chr 1:230,630,443...230,697,070
Ensembl chr 1:230,630,338...230,696,838 		JBrowse link
G Rac1 Rac family small GTPase 1 ISO ClinVar Annotator: match by term: Cutaneous melanoma ClinVar PMID:25056119 PMID:26619011 NCBI chr12:11,037,028...11,057,251
Ensembl chr12:11,036,698...11,057,251 		JBrowse link
G Raf1 Raf-1 proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: Cutaneous melanoma ClinVar PMID:1760348 PMID:10064593 PMID:17603482 PMID:17603483 PMID:19568997 More... NCBI chr 4:148,679,534...148,740,265
Ensembl chr 4:148,679,530...148,740,317 		JBrowse link
G Sf3b1 splicing factor 3b, subunit 1 ISO ClinVar Annotator: match by term: Malignant melanoma of skin ClinVar PMID:23634996 PMID:25741868 PMID:26619011 NCBI chr 9:56,492,403...56,532,300
Ensembl chr 9:56,492,403...56,532,300 		JBrowse link
G Sf3b2 splicing factor 3b, subunit 2 ISO ClinVar Annotator: match by term: Malignant melanoma of skin ClinVar PMID:26619011 NCBI chr 1:202,570,423...202,590,774
Ensembl chr 1:202,570,423...202,590,759 		JBrowse link
G Slc45a2 solute carrier family 45, member 2 ISO ClinVar Annotator: match by term: Malignant melanoma of skin ClinVar PMID:15714523 PMID:17044855 PMID:17999355 PMID:18563784 PMID:18683857 More... NCBI chr 2:59,963,599...59,996,408
Ensembl chr 2:59,963,706...59,996,317 		JBrowse link
G Stat3 signal transducer and activator of transcription 3 disease_progression ISO RGD PMID:21876460 RGD:8694297 NCBI chr10:85,811,206...85,863,057
Ensembl chr10:85,811,218...85,863,057 		JBrowse link
G Stk11 serine/threonine kinase 11 ISO ClinVar Annotator: match by term: DYSPLASTIC NEVUS SYNDROME, HEREDITARY ClinVar PMID:10201537 PMID:10208439 PMID:23555315 PMID:23993471 PMID:24033266 More... NCBI chr 7:9,574,553...9,591,315
Ensembl chr 7:9,575,269...9,591,315 		JBrowse link
G Stk19 serine/threonine kinase 19 ISO ClinVar Annotator: match by term: Cutaneous melanoma ClinVar PMID:26619011 NCBI chr20:3,995,590...4,005,117
Ensembl chr20:3,995,587...4,005,116 		JBrowse link
G Tp53 tumor protein p53 ISO ClinVar Annotator: match by term: Cutaneous melanoma | ClinVar Annotator: match by term: DYSPLASTIC NEVUS SYNDROME, HEREDITARY | ClinVar Annotator: match by term: Malignant melanoma of skin
ClinVar Annotator: match by term: Cutaneous melanoma | ClinVar Annotator: match by term: Malignant melanoma of skin		 ClinVar PMID:253702 PMID:1349175 PMID:1359493 PMID:1565143 PMID:1565144 More... NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524 		JBrowse link
G Tp73 tumor protein p73 ISO mRNA:increased expression:skin of body (human) RGD PMID:30420492 RGD:151347580 NCBI chr 5:164,621,377...164,703,958
Ensembl chr 5:164,621,377...164,681,128 		JBrowse link
G Tyr tyrosinase susceptibility ISO DNA:missense mutation:cds:p.R402Q(human) RGD PMID:21906913 RGD:8694390 NCBI chr 1:141,115,036...141,210,207
Ensembl chr 1:141,115,036...141,210,207 		JBrowse link
G Vdr vitamin D receptor susceptibility
no_association		 ISO DNA:missense mutation, silent mutation: :p,M1T, p.I352 (c.1056T>C) (rs2228570, rs731236) (human)
DNA:SNPs: :multiple		 RGD PMID:16990805 PMID:22576141 PMID:19615888 RGD:8157629, RGD:8158075, RGD:8158071 NCBI chr 7:128,987,981...129,037,677
Ensembl chr 7:128,987,981...129,037,677 		JBrowse link
Skin/Hair/Eye Pigmentation, Variation In, 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tyr tyrosinase ISO ClinVar Annotator: match by term: SKIN/HAIR/EYE PIGMENTATION 3, FRECKLING | ClinVar Annotator: match by term: SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN | ClinVar Annotator: match by term: Skin/hair/eye pigmentation, variation in, 3 OMIM
ClinVar		 PMID:666627 PMID:1429711 PMID:1642278 PMID:1676041 PMID:1711223 More... NCBI chr 1:141,115,036...141,210,207
Ensembl chr 1:141,115,036...141,210,207 		JBrowse link
uveal melanoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bap1 Brca1 associated protein 1 disease_progression
susceptibility		 ISO mRNA,protein:decreased expression: :
ClinVar Annotator: match by term: Melanoma, uveal, susceptibility to, 2 | ClinVar Annotator: match by term: Uveal melanoma
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD
RGD		 PMID:16341802 PMID:19197335 PMID:21874000 PMID:23032617 PMID:23684012 More... RGD:9586037 NCBI chr16:6,446,709...6,455,535
Ensembl chr16:6,446,709...6,455,535 		JBrowse link
G Birc7 baculoviral IAP repeat-containing 7 exacerbates ISO mRNA:increased expression:uvea (human) RGD PMID:31964418 RGD:153344516 NCBI chr 3:168,047,824...168,052,606
Ensembl chr 3:168,047,824...168,052,606 		JBrowse link
G Brca2 BRCA2, DNA repair associated susceptibility ISO DNA:mutations: : RGD PMID:22187320 RGD:9068467 NCBI chr12:59,492...103,789
Ensembl chr12:59,819...100,567 		JBrowse link
G Crp C-reactive protein disease_progression ISO RGD PMID:23057648 RGD:9491834 NCBI chr13:85,135,384...85,175,178
Ensembl chr13:85,124,977...85,175,178 		JBrowse link
G Cysltr2 cysteinyl leukotriene receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27089179 PMID:33288675 NCBI chr15:48,189,476...48,228,750
Ensembl chr15:48,189,073...48,304,136 		JBrowse link
G Eif1ax eukaryotic translation initiation factor 1A, X-linked ISO CTD Direct Evidence: marker/mechanism CTD PMID:23793026 NCBI chr  X:35,498,698...35,513,402
Ensembl chr  X:35,498,517...35,513,335 		JBrowse link
G Gna11 G protein subunit alpha 11 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Uveal melanoma		 CTD
ClinVar		 PMID:1328859 PMID:2549426 PMID:21083380 PMID:21444680 PMID:22733540 More... NCBI chr 7:8,163,520...8,177,863
Ensembl chr 7:8,162,750...8,179,812 		JBrowse link
G Gnaq G protein subunit alpha q ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Uveal melanoma		 CTD
ClinVar		 PMID:1328859 PMID:2549426 PMID:18719078 PMID:19078957 PMID:21083380 More... NCBI chr 1:213,425,631...213,671,947
Ensembl chr 1:213,424,465...213,667,672 		JBrowse link
G Igf1 insulin-like growth factor 1 disease_progression ISO RGD PMID:23197685 RGD:8548834 NCBI chr 7:22,282,895...22,361,972
Ensembl chr 7:22,282,930...22,359,296 		JBrowse link
G Jmjd6 jumonji domain containing 6, arginine demethylase and lysine hydroxylase ISO CTD Direct Evidence: marker/mechanism CTD PMID:30619488 NCBI chr10:102,041,131...102,047,182
Ensembl chr10:102,041,120...102,047,182 		JBrowse link
G Kdm5b lysine demethylase 5B severity ISO protein:increased expression:uvea (human) RGD PMID:22669717 RGD:9587775 NCBI chr13:46,001,589...46,073,868
Ensembl chr13:46,002,542...46,073,872 		JBrowse link
G Kdr kinase insert domain receptor disease_progression ISO RGD PMID:21984395 RGD:8549718 NCBI chr14:32,217,871...32,261,018
Ensembl chr14:32,217,871...32,261,018 		JBrowse link
G Mbd4 methyl-CpG binding domain 4 DNA glycosylase susceptibility ISO ClinVar Annotator: match by term: Melanoma, uveal, susceptibility to, 1
CTD Direct Evidence: marker/mechanism		 ClinVar
OMIM
CTD		 PMID:28492532 PMID:29760383 PMID:30049810 PMID:30714079 PMID:32239153 More... NCBI chr 4:148,893,049...148,904,833
Ensembl chr 4:148,894,280...148,904,982 		JBrowse link
G Mcam melanoma cell adhesion molecule disease_progression ISO RGD PMID:19958117 RGD:7364775 NCBI chr 8:44,479,391...44,487,575
Ensembl chr 8:44,479,376...44,487,571 		JBrowse link
G Plcb4 phospholipase C, beta 4 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Uveal melanoma		 CTD
ClinVar		 PMID:27089179 PMID:31186267 NCBI chr 3:122,952,965...123,322,522
Ensembl chr 3:122,953,196...123,322,392 		JBrowse link
G Pramex1 PRAME like, X-linked 1 severity ISO mRNA:increased expression:uvea (human) RGD PMID:27486988 RGD:11535039 NCBI chr  X:98,567,994...98,574,654
Ensembl chr  X:98,569,415...98,572,096 		JBrowse link
G RT1-CE13 RT1 class I, locus CE13 severity ISO protein:increased expression:tumor of uvea (human) RGD PMID:9286277 RGD:7364941 NCBI chr20:3,314,830...3,318,106 JBrowse link
G Serpine1 serpin family E member 1 treatment ISO human gene in mouse model RGD PMID:9326241 RGD:8547806 NCBI chr12:19,601,272...19,611,657
Ensembl chr12:19,601,272...19,611,657 		JBrowse link
G Serpinf1 serpin family F member 1 severity ISO RGD PMID:23793989 RGD:8554893 NCBI chr10:60,250,198...60,262,593
Ensembl chr10:60,249,708...60,262,646 		JBrowse link
G Sf3b1 splicing factor 3b, subunit 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Uveal melanoma		 CTD
ClinVar		 PMID:23313955 PMID:23793026 PMID:25741868 PMID:26619011 NCBI chr 9:56,492,403...56,532,300
Ensembl chr 9:56,492,403...56,532,300 		JBrowse link
G Tmem127 transmembrane protein 127 ISO ClinVar Annotator: match by term: Uveal melanoma ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:114,466,095...114,478,894
Ensembl chr 3:114,466,171...114,477,519 		JBrowse link
G Vegfa vascular endothelial growth factor A ISO protein:increased expression:iris, ciliary body, vitreous body; RGD PMID:11914216 RGD:7483591 NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    disease of cellular proliferation 7667
      cancer 5483
        cell type cancer 3731
          melanoma 387
            Experimental Melanoma 23
            Hutchinson's Melanotic Freckle 0
            Melanoma-Pancreatic Cancer Syndrome 1
            Skin/Hair/Eye Pigmentation, Variation In, 3 1
            amelanotic melanoma + 1
            cervix melanoma + 0
            epithelioid cell melanoma + 0
            esophagus melanoma 0
            familial melanoma + 45
            gallbladder melanoma 0
            malignant anus melanoma 0
            malignant breast melanoma 0
            malignant spindle cell melanoma + 0
            melanoma and neural system tumor syndrome 1
            melanomatosis 0
            mucosal melanoma + 0
            ocular melanoma + 2
            rectum malignant melanoma 0
            scrotum melanoma 0
            skin melanoma + 106
            spinal cord melanoma 0
            uveal melanoma + 22
paths to the root