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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 chr14:34,645,722...34,760,636
Ensembl chr14:34,637,196...34,760,433 		JBrowse link
G ACER3 alkaline ceramidase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr21:21,711,315...21,863,409
Ensembl chr21:21,714,156...21,863,320 		JBrowse link
G ADAMTS20 ADAM metallopeptidase with thrombospondin type 1 motif 20 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21559390 NCBI chr27:10,492,587...10,655,681
Ensembl chr27:10,492,301...10,675,655 		JBrowse link
G AGER advanced glycosylation end-product specific receptor treatment ISO RGD PMID:15009731 RGD:8695970 NCBI chr12:1,574,251...1,577,410
Ensembl chr12:1,574,251...1,577,129 		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 8:72,317,399...72,335,686
Ensembl chr 8:72,317,869...72,335,193 		JBrowse link
G ALDH1A1 aldehyde dehydrogenase 1 family member A1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:31580832 NCBI chr 1:84,940,411...84,994,789
Ensembl chr 1:84,940,411...84,994,789 		JBrowse link
G ALDH1A3 aldehyde dehydrogenase 1 family member A3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:31580832 NCBI chr 3:40,130,904...40,168,686
Ensembl chr 3:40,132,726...40,168,664 		JBrowse link
G AMIGO2 adhesion molecule with Ig like domain 2 treatment ISO RGD PMID:26553931 RGD:14392781 NCBI chr27:7,507,426...7,510,015
Ensembl chr27:7,507,489...7,509,054 		JBrowse link
G APEX1 apurinic/apyrimidinic endodeoxyribonuclease 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16373707 NCBI chr15:17,786,808...17,789,422
Ensembl chr15:17,786,357...17,789,422 		JBrowse link
G ARL2 ADP ribosylation factor like GTPase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr18:52,169,225...52,175,782 JBrowse link
G ARL5B ADP ribosylation factor like GTPase 5B ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr 2:18,441,251...18,476,989
Ensembl chr 2:18,445,860...18,471,066 		JBrowse link
G ARNT aryl hydrocarbon receptor nuclear translocator ISO CTD Direct Evidence: marker/mechanism CTD PMID:21983785 Ensembl chr17:59,941,353...60,010,867
Ensembl chr17:59,941,353...60,010,867 		JBrowse link
G ARPC2 actin related protein 2/3 complex subunit 2 ISO protein:increased expression:nevus (human) RGD PMID:19332774 RGD:11049176 NCBI chr37:24,914,389...24,935,998
Ensembl chr37:24,914,642...24,935,824 		JBrowse link
G ASF1A anti-silencing function 1A histone chaperone ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr 1:58,821,324...58,834,935
Ensembl chr 1:58,821,521...58,946,475 		JBrowse link
G ASIP agouti signaling protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:18488027 PMID:18641652 PMID:21983785 NCBI chr24:23,338,757...23,393,913
Ensembl chr24:23,354,888...23,393,896 		JBrowse link
G ASS1 argininosuccinate synthase 1 ISO RGD PMID:12359751 RGD:4140479 NCBI chr 9:53,425,228...53,478,007
Ensembl chr 9:53,425,448...53,477,904 		JBrowse link
G ATM ATM serine/threonine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:21983787 NCBI chr 5:24,180,129...24,297,207
Ensembl chr 5:24,182,135...24,297,207 		JBrowse link
G ATRX ATRX chromatin remodeler disease_progression ISO protein:decreased expression:skin: RGD PMID:24468746 RGD:9586028 NCBI chr  X:59,772,067...60,107,016
Ensembl chr  X:59,774,585...60,106,980 		JBrowse link
G AURKA aurora kinase A ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr24:41,585,483...41,604,875
Ensembl chr24:41,585,518...41,604,791 		JBrowse link
G B2M beta-2-microglobulin ISO ClinVar Annotator: match by term: Malignant melanoma, somatic ClinVar PMID:26619011 NCBI chr30:11,331,574...11,337,991
Ensembl chr30:11,331,569...11,337,997 		JBrowse link
G BATF2 basic leucine zipper ATF-like transcription factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr18:52,176,681...52,196,365
Ensembl chr18:52,175,549...52,195,404 		JBrowse link
G BCL2 BCL2 apoptosis regulator severity ISO protein:increased expression:lymph node (human) RGD PMID:8783649 RGD:11526106 NCBI chr 1:13,733,849...13,900,653
Ensembl chr 1:13,731,406...13,900,658 		JBrowse link
G BCL2L1 BCL2 like 1 disease_progression ISO protein:increased expression:skin, subcutaneous tissue (human) RGD PMID:17384650 RGD:11353861 NCBI chr24:21,145,214...21,209,425
Ensembl chr24:21,145,215...21,196,355 		JBrowse link
G BCL2L12 BCL2 like 12 ISO ClinVar Annotator: match by term: Malignant melanoma, somatic ClinVar PMID:26619011 NCBI chr 1:106,865,346...106,873,329 JBrowse link
G BMP4 bone morphogenetic protein 4 susceptibility ISO DNA:SNP:cds:6007C>T (rs17563)(human) RGD PMID:19557432 RGD:9068447 NCBI chr 8:29,997,563...30,254,307
Ensembl chr 8:29,997,569...30,004,557 		JBrowse link
G BRAF B-Raf proto-oncogene, serine/threonine kinase treatment
onset		 ISO ClinVar Annotator: match by term: MELANOMA, MALIGNANT | ClinVar Annotator: match by term: Malignant melanoma, somatic | ClinVar Annotator: match by term: Melanoma
DNA:mutations: :		 RGD
ClinVar		 PMID:2493360 PMID:2872605 PMID:8042262 PMID:12068308 PMID:12198537 More... RGD:11567259 RGD:11567267 NCBI chr16:8,222,909...8,318,179
Ensembl chr16:8,222,907...8,317,906 		JBrowse link
G BRCA2 BRCA2 DNA repair associated susceptibility ISO DNA:polymorphism:cds:p.N991D(human)
ClinVar Annotator: match by term: Melanoma		 RGD
ClinVar		 PMID:18024013 PMID:25741868 PMID:28492532 PMID:31911673 RGD:9068469 NCBI chr25:7,734,450...7,797,851
Ensembl chr25:7,734,453...7,797,815 		JBrowse link
G BRD2 bromodomain containing 2 ISO protein:mRNA:skin: RGD PMID:23950209 RGD:9586346 NCBI chr12:2,534,034...2,546,029
Ensembl chr12:2,534,034...2,546,029 		JBrowse link
G BRD4 bromodomain containing 4 ISO protein:mRNA:skin: RGD PMID:23950209 RGD:9586346 NCBI chr20:46,844,795...46,927,620
Ensembl chr20:46,891,514...46,927,608 		JBrowse link
G BSG basigin ISO CTD Direct Evidence: marker/mechanism CTD PMID:36574092 NCBI chr20:57,942,703...57,951,089
Ensembl chr20:57,943,276...57,951,061 		JBrowse link
G BZW1 basic leucine zipper and W2 domains 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr37:10,005,137...10,021,442
Ensembl chr37:10,005,183...10,017,448 		JBrowse link
G C18H11orf68 chromosome 18 C11orf68 homolog ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr18:51,353,212...51,355,490 JBrowse link
G C3 complement C3 treatment ISO RGD PMID:17146472 RGD:7401279 NCBI chr20:53,566,226...53,598,365
Ensembl chr20:53,566,261...53,598,761 		JBrowse link
G CAPN1 calpain 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr18:51,983,266...52,010,831
Ensembl chr18:51,983,824...52,010,757 		JBrowse link
G CASP10 caspase 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18563783 NCBI chr37:10,315,867...10,350,585 JBrowse link
G CASP8 caspase 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18563783 PMID:21983787 NCBI chr37:10,362,071...10,402,108
Ensembl chr37:10,391,048...10,401,822 		JBrowse link
G CAT catalase ISO protein:increased activity:melanocyte:
protein:increased activity:multiple:		 RGD PMID:9758419 PMID:15224238 RGD:9479151 RGD:9479742 NCBI chr18:33,383,005...33,422,447
Ensembl chr18:33,383,005...33,422,447 		JBrowse link
G CAV1 caveolin 1 disease_progression ISO RGD PMID:22134245 RGD:8661767 NCBI chr14:55,458,934...55,494,563
Ensembl chr14:55,461,048...55,492,935 		JBrowse link
G CBS cystathionine beta-synthase ISO CTD Direct Evidence: marker/mechanism CTD PMID:25205294 NCBI chr31:37,230,900...37,247,170 JBrowse link
G CCDC63 coiled-coil domain containing 63 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21499247 NCBI chr26:8,587,306...8,623,558
Ensembl chr26:8,587,784...8,652,946 		JBrowse link
G CD274 CD274 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:20143437 NCBI chr 1:93,461,735...93,605,772
Ensembl chr 1:93,585,518...93,603,522 		JBrowse link
G CD40 CD40 molecule treatment ISO RGD PMID:17327609 PMID:22421945 RGD:11522740 RGD:11522745 NCBI chr24:33,352,992...33,383,488
Ensembl chr24:33,372,930...33,383,301 		JBrowse link
G CDK2 cyclin dependent kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21559390 NCBI chr10:300,863...306,546
Ensembl chr10:300,903...305,438 		JBrowse link
G CDK4 cyclin dependent kinase 4 ISO ClinVar Annotator: match by term: Melanoma ClinVar PMID:5377176 PMID:7652577 PMID:8528263 PMID:8968104 PMID:9228064 More... NCBI chr10:1,812,864...1,815,815
Ensembl chr10:1,812,886...1,815,789 		JBrowse link
G CDKN1A cyclin dependent kinase inhibitor 1A ISO protein:increased expression:skin RGD PMID:9194578 PMID:22311377 RGD:8662421 RGD:8662817 NCBI chr12:5,746,898...5,755,103
Ensembl chr12:5,745,852...5,892,281 		JBrowse link
G CDKN1C cyclin dependent kinase inhibitor 1C ISO CTD Direct Evidence: marker/mechanism CTD PMID:17145863 NCBI chr18:46,860,636...46,861,697 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		 RGD
ClinVar		 PMID:7566978 PMID:7647780 PMID:7666917 PMID:7718873 PMID:7777061 More... RGD:1600812 NCBI chr11:41,223,316...41,226,056
Ensembl chr11:41,223,315...41,264,379 		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 chr26:22,052,256...22,145,675
Ensembl chr26:21,427,961...22,240,624 		JBrowse link
G CHI3L1 chitinase 3 like 1 severity ISO protein:increased secretion:serum (human) RGD PMID:16456816 RGD:4892643 NCBI chr 7:25,620...32,954
Ensembl chr 7:26,316...33,427 		JBrowse link
G CLNS1A chloride nucleotide-sensitive channel 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr21:21,136,913...21,177,678
Ensembl chr21:21,136,931...21,160,703 		JBrowse link
G CLU clusterin ISO CTD Direct Evidence: therapeutic CTD PMID:15955107 NCBI chr25:29,982,811...29,999,565
Ensembl chr25:29,982,811...29,999,563 		JBrowse link
G CNNM1 cyclin and CBS domain divalent metal cation transport mediator 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16778180 NCBI chr28:12,289,643...12,349,085
Ensembl chr28:12,290,512...12,346,763 		JBrowse link
G COL2A1 collagen type II alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:16778180 NCBI chr27:6,756,994...6,787,733
Ensembl chr27:6,756,994...6,787,733 		JBrowse link
G CP ceruloplasmin ISO CTD Direct Evidence: marker/mechanism CTD PMID:23792645 NCBI chr23:43,969,297...44,033,226
Ensembl chr23:43,969,435...44,030,369 		JBrowse link
G CPT1C carnitine palmitoyltransferase 1C ISO CTD Direct Evidence: marker/mechanism CTD PMID:16778180 NCBI chr 1:106,826,207...106,847,117
Ensembl chr 1:106,826,303...106,846,446 		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 chr 6:37,410,201...37,536,688
Ensembl chr 6:37,409,930...37,534,176 		JBrowse link
G CRNKL1 crooked neck pre-mRNA splicing factor 1 ISO ClinVar Annotator: match by term: Malignant melanoma, somatic ClinVar PMID:26619011 NCBI chr24:3,294,607...3,310,846
Ensembl chr24:3,294,616...3,310,702 		JBrowse link
G CRYBG1 crystallin beta-gamma domain containing 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22402438 NCBI chr12:63,816,938...63,925,529
Ensembl chr12:63,806,896...63,924,277 		JBrowse link
G CSF2 colony stimulating factor 2 ISO CTD Direct Evidence: therapeutic CTD PMID:11061616 NCBI chr11:20,342,880...20,346,959
Ensembl chr11:20,344,648...20,346,959 		JBrowse link
G CSF3 colony stimulating factor 3 ISO CTD Direct Evidence: therapeutic CTD PMID:16120623 PMID:16260693 NCBI chr 9:22,529,643...22,532,326
Ensembl chr 9:22,530,698...22,533,108 		JBrowse link
G CST6 cystatin E/M ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr18:51,263,161...51,264,816
Ensembl chr18:51,263,178...51,264,780 		JBrowse link
G CTH cystathionine gamma-lyase ISO CTD Direct Evidence: marker/mechanism CTD PMID:25205294 NCBI chr 6:75,324,328...75,348,476
Ensembl chr 6:75,324,787...75,349,451 		JBrowse link
G CTLA4 cytotoxic T-lymphocyte associated protein 4 treatment ISO CTD Direct Evidence: therapeutic
DNA:SNPs: :-11577G>A,rs3087243(human)		 CTD
RGD		 PMID:21802280 PMID:23641913 RGD:7411681 NCBI chr37:12,647,712...12,653,874
Ensembl chr37:12,634,563...12,653,874 		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 chr23:10,559,722...10,572,933
Ensembl chr23:10,559,718...10,572,927 		JBrowse link
G CUBN cubilin ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr 2:19,784,125...20,041,840
Ensembl chr 2:19,784,198...20,041,839 		JBrowse link
G CUL3 cullin 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr25:37,730,903...37,819,851
Ensembl chr25:37,733,229...37,800,886 		JBrowse link
G CYP1B1 cytochrome P450 family 1 subfamily B member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17145863 NCBI chr17:30,273,281...30,278,554
Ensembl chr17:30,272,749...30,278,554 		JBrowse link
G DCBLD1 discoidin, CUB and LCCL domain containing 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr 1:57,733,681...57,809,624
Ensembl chr 1:57,716,008...57,799,929
Ensembl chr 1:57,716,008...57,799,929 		JBrowse link
G DCC DCC netrin 1 receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:22842228 NCBI chr 1:21,788,833...22,494,849
Ensembl chr 1:21,793,328...22,494,967 		JBrowse link
G DDIT4L DNA damage inducible transcript 4 like ISO CTD Direct Evidence: marker/mechanism CTD PMID:16778180 NCBI chr32:22,062,630...22,067,364
Ensembl chr32:22,064,393...22,068,562 		JBrowse link
G DDR2 discoidin domain receptor tyrosine kinase 2 ameliorates ISO DNA:deletion:exons: RGD PMID:24293323 RGD:150429711 NCBI chr38:20,002,984...20,152,930
Ensembl chr38:20,008,057...20,152,275 		JBrowse link
G DLG2 discs large MAGUK scaffold protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr21:13,796,725...15,776,601
Ensembl chr21:13,822,304...15,771,954 		JBrowse link
G DNAJC1 DnaJ heat shock protein family (Hsp40) member C1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr 2:11,126,312...11,333,613
Ensembl chr 2:11,126,311...11,333,591 		JBrowse link
G DNAJC15 DnaJ heat shock protein family (Hsp40) member C15 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17145863 NCBI chr22:7,746,726...7,825,635 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 chr17:19,489,524...19,563,074
Ensembl chr17:19,492,193...19,563,902 		JBrowse link
G DRAP1 DR1 associated protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr18:51,350,625...51,352,742
Ensembl chr18:51,350,716...51,352,977 		JBrowse link
G DSC1 desmocollin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22197931 NCBI chr 7:58,322,959...58,350,092
Ensembl chr 7:58,322,959...58,457,978 		JBrowse link
G ECHDC1 ethylmalonyl-CoA decarboxylase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr 1:66,012,245...66,073,008
Ensembl chr 1:66,012,782...66,073,000 		JBrowse link
G EDA ectodysplasin A ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr  X:54,078,694...54,515,535
Ensembl chr  X:54,078,966...54,515,535 		JBrowse link
G EHMT2 euchromatic histone lysine methyltransferase 2 disease_progression ISO RGD PMID:24658378 RGD:9590069 NCBI chr12:1,341,202...1,354,602
Ensembl chr12:1,341,191...1,354,584 		JBrowse link
G EIF1AD eukaryotic translation initiation factor 1A domain containing ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr18:51,271,850...51,276,215
Ensembl chr18:51,272,855...51,274,487 		JBrowse link
G ELN elastin disease_progression ISO associated with Nevus, Pigmented; RGD PMID:11979070 PMID:19032378 RGD:9585752 RGD:9585768 NCBI chr 6:6,299,524...6,331,425
Ensembl chr 6:6,300,727...6,331,325 		JBrowse link
G ENG endoglin treatment ISO RGD PMID:23076642 RGD:7248785 NCBI chr 9:55,558,246...55,590,081
Ensembl chr 9:55,558,305...55,589,064 		JBrowse link
G EP300 E1A binding protein p300 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23698071 NCBI chr10:24,076,538...24,156,708
Ensembl chr10:24,077,971...24,156,396 		JBrowse link
G EPB41 erythrocyte membrane protein band 4.1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17145863 NCBI chr 2:71,474,916...71,673,052
Ensembl chr 2:71,474,954...71,584,266 		JBrowse link
G EPHX3 epoxide hydrolase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16778180 NCBI chr20:46,932,984...46,935,635
Ensembl chr20:46,932,945...46,937,858 		JBrowse link
G EPO erythropoietin ISO CTD Direct Evidence: marker/mechanism CTD PMID:15743794 NCBI chr 6:8,994,211...8,995,954
Ensembl chr 6:8,994,211...8,996,144 		JBrowse link
G EPOR erythropoietin receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:21860424 NCBI chr20:49,945,777...49,950,856
Ensembl chr20:49,945,777...49,950,856 		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 chr 9:22,760,373...22,785,367
Ensembl chr 9:22,759,256...22,785,294 		JBrowse link
G ERBB4 erb-b2 receptor tyrosine kinase 4 ISO ClinVar Annotator: match by term: Melanoma ClinVar PMID:19718025 NCBI chr37:19,029,647...20,134,576
Ensembl chr37:19,037,217...20,134,426 		JBrowse link
G ERCC1 ERCC excision repair 1, endonuclease non-catalytic subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:21722328 NCBI chr 1:110,130,353...110,146,660
Ensembl chr 1:110,130,481...110,146,602 		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 1:110,173,781...110,191,612
Ensembl chr 1:110,173,715...110,190,125 		JBrowse link
G ERCC5 ERCC excision repair 5, endonuclease disease_progression ISO DNA:polymorphism:exon:p.D1104H(human) RGD PMID:21390047 RGD:12880434 NCBI chr22:52,339,011...52,372,618 JBrowse link
G ESR1 estrogen receptor 1 severity ISO RGD PMID:19153340 RGD:8553064 NCBI chr 1:42,081,952...42,368,544
Ensembl chr 1:42,081,969...42,368,544 		JBrowse link
G ESR2 estrogen receptor 2 severity ISO RGD PMID:19153340 RGD:8553064 NCBI chr 8:38,645,917...38,715,347
Ensembl chr 8:38,645,430...38,702,691 		JBrowse link
G F2RL1 F2R like trypsin receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17145863 NCBI chr 3:29,801,119...29,810,006
Ensembl chr 3:29,800,211...29,810,180 		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 chr26:38,738,811...38,763,298
Ensembl chr26:38,737,611...38,763,321 		JBrowse link
G FASLG Fas ligand susceptibility ISO DNA:polymorphisms,haplotype:promoter:-844C>T,IVS2nt-124A>G(human)
CTD Direct Evidence: therapeutic		 RGD
CTD		 PMID:16487513 PMID:16538172 RGD:12903985 NCBI chr 7:26,335,837...26,344,224
Ensembl chr 7:26,335,846...26,344,224 		JBrowse link
G FASN fatty acid synthase ISO CTD Direct Evidence: marker/mechanism CTD PMID:18770866 PMID:20805790 PMID:21213365 NCBI chr 9:233,105...249,573
Ensembl chr 9:232,963...249,092 		JBrowse link
G FAT4 FAT atypical cadherin 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22197931 NCBI chr19:15,157,595...15,332,821
Ensembl chr19:15,158,922...15,332,045 		JBrowse link
G FBN1 fibrillin 1 ISO ClinVar Annotator: match by term: Melanoma ClinVar PMID:7611299 PMID:8894692 PMID:9401003 PMID:9536098 PMID:10533071 More... NCBI chr30:14,640,973...14,864,151
Ensembl chr30:14,640,973...14,864,151 		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 chr15:50,187,579...50,417,188
Ensembl chr15:50,189,240...50,417,195 		JBrowse link
G FHIP2A FHF complex subunit HOOK interacting protein 2A ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr28:25,602,671...25,634,912
Ensembl chr28:25,602,696...25,629,991 		JBrowse link
G FLT1 fms related receptor tyrosine kinase 1 ISO protein:increased expression:serum:
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:19718025 PMID:21730877 RGD:8552360 NCBI chr25:11,231,958...11,410,379
Ensembl chr25:11,231,737...11,407,621 		JBrowse link
G FTO FTO alpha-ketoglutarate dependent dioxygenase ISO CTD Direct Evidence: marker/mechanism CTD PMID:23455637 NCBI chr 2:61,699,864...62,080,199
Ensembl chr 2:61,652,236...62,080,059 		JBrowse link
G GAB2 GRB2 associated binding protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr21:20,414,903...20,605,807
Ensembl chr21:20,277,507...20,606,736 		JBrowse link
G GDF15 growth differentiation factor 15 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17145863 NCBI chr20:44,633,131...44,636,842
Ensembl chr20:44,634,588...44,636,821 		JBrowse link
G GGT1 gamma-glutamyltransferase 1 disease_progression ISO RGD PMID:6120756 RGD:14747014 NCBI chr26:28,301,455...28,315,029 JBrowse link
G GLO1 glyoxalase I ISO CTD Direct Evidence: marker/mechanism CTD PMID:20093988 NCBI chr12:7,584,141...7,609,615
Ensembl chr12:7,585,531...7,609,550 		JBrowse link
G GNA11 G protein subunit alpha 11 ISO ClinVar Annotator: match by term: Melanoma ClinVar PMID:1328859 PMID:2549426 PMID:21083380 PMID:21444680 PMID:22733540 More...
G GNAQ G protein subunit alpha q ISO ClinVar Annotator: match by term: Melanoma ClinVar PMID:1328859 PMID:2549426 PMID:18719078 PMID:19078957 PMID:21083380 More... NCBI chr 1:80,733,530...80,928,065
Ensembl chr 1:80,715,366...80,928,065 		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 chr24:43,643,409...43,658,641
Ensembl chr24:43,643,405...43,658,657 		JBrowse link
G GOPC golgi associated PDZ and coiled-coil motif containing ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr 1:57,790,118...57,829,022
Ensembl chr 1:57,792,647...57,828,820 		JBrowse link
G GPAM glycerol-3-phosphate acyltransferase, mitochondrial ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr28:23,261,673...23,323,985
Ensembl chr28:23,258,428...23,298,017 		JBrowse link
G GPER1 G protein-coupled estrogen receptor 1 severity ISO protein:increased expression:skin (human) RGD PMID:28467693 RGD:39939016 NCBI chr 6:15,792,072...15,796,922
Ensembl chr 6:15,792,897...15,794,051 		JBrowse link
G GRIN2A glutamate ionotropic receptor NMDA type subunit 2A ISO CTD Direct Evidence: marker/mechanism CTD PMID:21499247 NCBI chr 6:32,132,070...32,678,319
Ensembl chr 6:32,303,121...32,668,960 		JBrowse link
G GRM3 glutamate metabotropic receptor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21946352 PMID:22842228 NCBI chr14:12,861,093...13,069,829
Ensembl chr14:12,980,180...13,069,823 		JBrowse link
G GSTP1 glutathione S-transferase pi 1 ISO DNA:polymorphism:cds:p.I50V(human) RGD PMID:23568549 RGD:8547833 NCBI chr18:49,905,161...49,908,182
Ensembl chr18:49,905,161...49,908,182 		JBrowse link
G HDAC2 histone deacetylase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr12:70,053,822...70,083,491
Ensembl chr12:70,053,297...70,103,578 		JBrowse link
G HDAC3 histone deacetylase 3 ISO associated with Anaphylaxis; RGD PMID:24619412 RGD:9590165 NCBI chr 2:36,583,283...36,598,121
Ensembl chr 2:36,583,283...36,597,682 		JBrowse link
G HDAC6 histone deacetylase 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr  X:42,004,268...42,024,726
Ensembl chr  X:42,004,591...42,024,427 		JBrowse link
G HIKESHI heat shock protein nuclear import factor hikeshi ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr21:13,210,356...13,249,595
Ensembl chr21:13,210,362...13,249,565 		JBrowse link
G HOXA9 homeobox A9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16778180 NCBI chr14:40,336,829...40,340,533
Ensembl chr14:40,337,999...40,339,923 		JBrowse link
G HOXB13 homeobox B13 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17145863 NCBI chr 9:24,958,020...24,961,353
Ensembl chr 9:24,959,183...24,961,588 		JBrowse link
G HOXD12 homeobox D12 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16778180 NCBI chr36:19,907,424...19,910,827
Ensembl chr36:19,907,442...19,908,408 		JBrowse link
G HPSE heparanase ISO CTD Direct Evidence: marker/mechanism CTD PMID:22240343 NCBI chr32:7,166,437...7,199,659
Ensembl chr32:7,167,856...7,199,665 		JBrowse link
G HRAS HRas proto-oncogene, GTPase ISO 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 chr18:25,642,844...25,644,717
Ensembl chr18:25,642,844...25,644,717 		JBrowse link
G HS3ST5 heparan sulfate-glucosamine 3-sulfotransferase 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr12:70,137,232...70,387,797
Ensembl chr12:70,140,802...70,388,174 		JBrowse link
G ICAM1 intercellular adhesion molecule 1 disease_progression ISO RGD PMID:8599446 RGD:8547584 NCBI chr20:50,818,715...50,827,914
Ensembl chr20:50,818,715...50,827,914 		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 chr37:16,512,027...16,531,269
Ensembl chr37:16,512,770...16,531,219 		JBrowse link
G IER2 immediate early response 2 disease_progression ISO mRNA:increased expression:skin (human) RGD PMID:34611309 RGD:153323325 NCBI chr20:49,071,243...49,074,184
Ensembl chr20:49,072,234...49,072,902 		JBrowse link
G IFNB1 interferon beta 1 ISO CTD Direct Evidence: therapeutic CTD PMID:16928243 PMID:21846298 NCBI chr11:40,668,295...40,668,855
Ensembl chr11:40,668,295...40,668,855 		JBrowse link
G IFNG interferon gamma ISO CTD Direct Evidence: therapeutic CTD PMID:9794839 NCBI chr10:10,406,866...10,411,698
Ensembl chr10:10,406,867...10,411,698 		JBrowse link
G IL17D interleukin 17D severity ISO RGD PMID:31244826 RGD:40903065 NCBI chr25:17,386,815...17,390,315 JBrowse link
G IL1RAPL1 interleukin 1 receptor accessory protein like 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr  X:23,747,689...25,105,606
Ensembl chr  X:23,943,871...25,099,377 		JBrowse link
G IL1RN interleukin 1 receptor antagonist ISO mouse model treated with human protein RGD PMID:8168095 RGD:6909140 NCBI chr17:37,236,690...37,250,424
Ensembl chr17:37,212,751...37,249,329 		JBrowse link
G IL2 interleukin 2 ISO CTD Direct Evidence: therapeutic CTD PMID:12374674 PMID:12439608 PMID:15577323 PMID:15917704 PMID:16131448 More... NCBI chr19:17,750,780...17,756,394
Ensembl chr19:17,750,780...17,756,394 		JBrowse link
G IL21 interleukin 21 treatment ISO RGD PMID:22477528 RGD:127285553 NCBI chr19:17,641,833...17,651,275
Ensembl chr19:17,641,833...17,651,266 		JBrowse link
G INCENP inner centromere protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr18:54,361,376...54,384,649
Ensembl chr18:54,361,378...54,384,641 		JBrowse link
G IQCH IQ motif containing H ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr30:31,422,489...31,638,157
Ensembl chr30:31,422,564...31,624,672 		JBrowse link
G JAKMIP2 janus kinase and microtubule interacting protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22842228 NCBI chr 2:41,904,404...42,078,992
Ensembl chr 2:41,907,540...42,078,116 		JBrowse link
G JMJD6 jumonji domain containing 6, arginine demethylase and lysine hydroxylase ISO CTD Direct Evidence: marker/mechanism CTD PMID:30619488 NCBI chr 9:4,037,307...4,076,119
Ensembl chr 9:4,037,439...4,076,123 		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 chr20:49,358,904...49,360,746
Ensembl chr20:49,359,399...49,360,442 		JBrowse link
G KDM1A lysine demethylase 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:29438700 NCBI chr 2:76,313,742...76,375,716
Ensembl chr 2:76,156,434...76,375,632 		JBrowse link
G KDM4A lysine demethylase 4A ISO CTD Direct Evidence: marker/mechanism CTD PMID:29438700 NCBI chr15:16,521,760...16,570,965
Ensembl chr15:16,521,700...16,571,000 		JBrowse link
G KDM4B lysine demethylase 4B ISO CTD Direct Evidence: marker/mechanism CTD PMID:29438700 NCBI chr20:54,713,900...54,843,991
Ensembl chr20:54,634,121...54,820,816 		JBrowse link
G KDM4C lysine demethylase 4C ISO CTD Direct Evidence: marker/mechanism CTD PMID:29438700 NCBI chr11:27,662,764...28,101,432
Ensembl chr11:27,693,536...28,101,801 		JBrowse link
G KDM7A lysine demethylase 7A ISO human gene in a mouse model RGD PMID:22143793 RGD:9587848 NCBI chr16:8,737,670...8,820,925
Ensembl chr16:8,740,492...8,814,402 		JBrowse link
G KDR kinase insert domain receptor treatment
disease_progression		 ISO protein:increased expression:serum:
protein:increased expression, altered expression:skin:		 RGD PMID:12415261 PMID:15714119 PMID:21730877 RGD:126925192 RGD:8551851 RGD:8552360 NCBI chr13:47,442,861...47,484,574
Ensembl chr13:47,442,764...47,485,042 		JBrowse link
G KHDRBS2 KH RNA binding domain containing, signal transduction associated 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21499247 NCBI chr12:25,544,069...26,142,284
Ensembl chr12:25,585,694...26,142,337 		JBrowse link
G KIF18B kinesin family member 18B ISO CTD Direct Evidence: marker/mechanism CTD PMID:31617652 NCBI chr 9:18,541,632...18,562,341
Ensembl chr 9:18,551,373...18,562,355 		JBrowse link
G KIT KIT proto-oncogene, receptor tyrosine kinase disease_progression ISO ClinVar Annotator: match by term: Melanoma
ClinVar Annotator: match by term: Malignant melanoma, somatic | ClinVar Annotator: match by term: Melanoma		 RGD
ClinVar		 PMID:7513208 PMID:7530509 PMID:8589724 PMID:9310959 PMID:9438854 More... RGD:12910725 NCBI chr13:47,108,442...47,190,935
Ensembl chr13:47,108,504...47,190,029 		JBrowse link
G KLRB1 killer cell lectin like receptor B1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17295095 NCBI chr27:36,355,917...36,376,172
Ensembl chr27:36,355,986...36,376,501 		JBrowse link
G KLRK1 killer cell lectin like receptor K1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17295095 NCBI chr27:35,634,938...35,658,978
Ensembl chr27:35,639,280...35,658,882 		JBrowse link
G KNSTRN kinetochore localized astrin (SPAG5) binding protein ISO ClinVar Annotator: match by term: Malignant melanoma, somatic ClinVar PMID:26619011 NCBI chr30:7,562,738...7,573,514
Ensembl chr30:7,562,807...7,572,950 		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 chr27:22,261,753...22,296,704
Ensembl chr27:22,257,941...22,293,369 		JBrowse link
G LGALS3 galectin 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23994248 NCBI chr 8:30,977,438...30,994,711
Ensembl chr 8:30,983,633...30,994,705 		JBrowse link
G LOC100685083 nuclear envelope pore membrane protein POM 121-like ISO CTD Direct Evidence: marker/mechanism CTD PMID:22842228 NCBI chr11:1,051,404...1,095,033 JBrowse link
G LOC488436 serine/threonine-protein kinase 19-like ISO ClinVar Annotator: match by term: Malignant melanoma, somatic ClinVar PMID:26619011 NCBI chr36:27,227,496...27,228,457 JBrowse link
G LOC611565 antigen WC1.1-like ISO CTD Direct Evidence: marker/mechanism CTD PMID:22842228 NCBI chr27:37,777,592...37,809,738 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 chr19:42,608,167...44,427,492
Ensembl chr19:42,609,684...44,427,262 		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 chr18:25,647,024...25,662,646
Ensembl chr18:25,647,882...25,664,220 		JBrowse link
G LTA lymphotoxin alpha disease_progression ISO RGD PMID:9182821 RGD:8548801 NCBI chr12:1,070,608...1,073,053
Ensembl chr12:1,071,192...1,073,067 		JBrowse link
G LXN latexin ISO CTD Direct Evidence: marker/mechanism CTD PMID:17145863 NCBI chr23:51,962,877...51,968,447
Ensembl chr23:51,962,873...51,969,172 		JBrowse link
G MAP2K1 mitogen-activated protein kinase kinase 1 ISO ClinVar Annotator: match by term: Malignant melanoma, somatic | ClinVar Annotator: match by term: Melanoma ClinVar PMID:7651428 PMID:17366577 PMID:17551924 PMID:17704260 PMID:18060073 More... NCBI chr30:30,683,192...30,760,479
Ensembl chr30:30,683,107...30,760,479 		JBrowse link
G MAP2K2 mitogen-activated protein kinase kinase 2 ISO ClinVar Annotator: match by term: Melanoma ClinVar PMID:24265153 PMID:24265154 PMID:25487361 PMID:28492532 NCBI chr20:55,465,460...55,487,629
Ensembl chr20:55,465,212...55,487,641 		JBrowse link
G MAP3K5 mitogen-activated protein kinase kinase kinase 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22197930 NCBI chr 1:29,107,813...29,306,437
Ensembl chr 1:29,108,591...29,306,503 		JBrowse link
G MAP3K9 mitogen-activated protein kinase kinase kinase 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22197930 NCBI chr 8:44,435,714...44,509,528
Ensembl chr 8:44,440,692...44,509,925 		JBrowse link
G MAPK1 mitogen-activated protein kinase 1 treatment ISO RGD PMID:28976960 RGD:151347671 NCBI chr26:31,013,607...31,132,998
Ensembl chr26:31,013,607...31,132,998 		JBrowse link
G MAPK14 mitogen-activated protein kinase 14 ameliorates ISO mouse cell line in a mouse model RGD PMID:29907597 RGD:151665504 NCBI chr12:5,145,647...5,221,558
Ensembl chr12:5,146,037...5,220,603 		JBrowse link
G MC1R melanocortin 1 receptor ISO ClinVar Annotator: match by term: Malignant Melanoma Susceptibility | ClinVar Annotator: match by term: Melanoma ClinVar PMID:7581459 PMID:16809487 PMID:16982779 PMID:17616515 PMID:18366057 More... NCBI chr 5:63,694,296...63,695,249 JBrowse link
G MDM2 MDM2 proto-oncogene ISO CTD Direct Evidence: marker/mechanism CTD PMID:17210701 NCBI chr10:10,936,288...10,963,118
Ensembl chr10:10,893,719...10,962,596 		JBrowse link
G MELTF melanotransferrin ISO CTD Direct Evidence: marker/mechanism CTD PMID:16704991 NCBI chr33:29,985,007...30,006,437
Ensembl chr33:29,985,206...30,003,742 		JBrowse link
G MET MET proto-oncogene, receptor tyrosine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:29426936 NCBI chr14:55,599,047...55,711,626
Ensembl chr14:55,598,337...55,724,027 		JBrowse link
G MGMT O-6-methylguanine-DNA methyltransferase ISO protein:increased activity:skin tumor (rat) RGD PMID:20182810 RGD:2316960 NCBI chr28:38,204,611...38,427,482
Ensembl chr28:38,204,610...38,427,380 		JBrowse link
G MIR340 microRNA mir-340 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25043973 NCBI chr11:1,704,582...1,704,673
Ensembl chr11:1,704,582...1,704,673 		JBrowse link
G MITF melanocyte inducing transcription factor ISO ClinVar Annotator: match by term: Melanoma ClinVar PMID:2440678 PMID:22012259 PMID:22080950 PMID:22158021 PMID:23167872 More... NCBI chr20:21,772,147...21,873,545
Ensembl chr20:21,612,927...21,870,578 		JBrowse link
G MLANA melan-A ISO CTD Direct Evidence: marker/mechanism CTD PMID:26640592 NCBI chr11:26,838,766...26,913,337
Ensembl chr11:26,900,767...26,913,334 		JBrowse link
G MLLT10 MLLT10 histone lysine methyltransferase DOT1L cofactor ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr 2:11,349,864...11,607,194
Ensembl chr 2:11,349,856...11,596,398 		JBrowse link
G MMP8 matrix metallopeptidase 8 ISO CTD Direct Evidence: therapeutic CTD PMID:19330028 NCBI chr 5:29,036,381...29,047,180
Ensembl chr 5:29,035,820...29,046,808 		JBrowse link
G MPST mercaptopyruvate sulfurtransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:25205294 NCBI chr10:27,465,007...27,469,788
Ensembl chr10:27,443,865...27,469,554 		JBrowse link
G MRPL49 mitochondrial ribosomal protein L49 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr18:52,068,576...52,072,642
Ensembl chr18:52,069,605...52,072,591 		JBrowse link
G MTAP methylthioadenosine phosphorylase ISO CTD Direct Evidence: marker/mechanism CTD PMID:19578364 NCBI chr11:41,148,389...41,200,635
Ensembl chr11:41,148,404...41,264,504 		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 2:84,818,893...84,939,283
Ensembl chr 2:84,787,708...84,939,114 		JBrowse link
G MTPAP mitochondrial poly(A) polymerase ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr 2:16,666,742...16,695,753
Ensembl chr 2:16,666,749...16,695,709 		JBrowse link
G MX2 MX dynamin like GTPase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21983787 NCBI chr31:35,860,596...35,883,607
Ensembl chr31:35,860,590...35,951,350 		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 chr23:7,901,578...7,905,274
Ensembl chr23:7,901,250...7,904,534 		JBrowse link
G MYO7A myosin VIIA ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr21:21,539,735...21,624,063
Ensembl chr21:21,539,785...21,624,279 		JBrowse link
G NAF1 nuclear assembly factor 1 ribonucleoprotein ISO DNA:SNP:cds:rs7675988 (human) RGD PMID:25231748 RGD:152995261 NCBI chr15:59,430,809...59,470,306 JBrowse link
G NDRG1 N-myc downstream regulated 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15341671 NCBI chr13:29,689,294...29,745,964
Ensembl chr13:29,650,444...29,746,382 		JBrowse link
G NECAB3 N-terminal EF-hand calcium binding protein 3 ISO CTD Direct Evidence: marker/mechanism|therapeutic CTD PMID:15574415 PMID:16827129 NCBI chr24:22,895,149...22,904,689
Ensembl chr24:22,878,402...22,904,656 		JBrowse link
G NF1 neurofibromin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25119042 PMID:26214590 NCBI chr 9:41,467,460...41,679,388
Ensembl chr 9:41,469,416...41,679,382 		JBrowse link
G NFKB1 nuclear factor kappa B subunit 1 ISO DNA:insertion(s) RGD PMID:17492467 RGD:2298900 NCBI chr32:23,948,598...24,040,704
Ensembl chr32:23,942,954...24,040,703 		JBrowse link
G NFKBIA NFKB inhibitor alpha ISO DNA:insertion(s) RGD PMID:17492467 RGD:2298900 NCBI chr 8:14,100,203...14,103,453
Ensembl chr 8:14,100,671...14,103,433 		JBrowse link
G NFKBIE NFKB inhibitor epsilon ISO CTD Direct Evidence: marker/mechanism CTD PMID:26343386 NCBI chr12:12,668,664...12,674,146 JBrowse link
G NGFR nerve growth factor receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:30339727 NCBI chr 9:25,598,468...25,621,021
Ensembl chr 9:25,601,074...25,623,274 		JBrowse link
G NPPA natriuretic peptide A ISO CTD Direct Evidence: therapeutic CTD PMID:18004088 NCBI chr 2:84,406,317...84,408,115
Ensembl chr 2:84,396,073...84,408,385 		JBrowse link
G NRAS NRAS proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Malignant melanoma, somatic | ClinVar Annotator: match by term: Melanoma ClinVar PMID:1654209 PMID:2278970 PMID:2407301 PMID:2674680 PMID:2989702 More... NCBI chr17:52,411,733...52,418,788
Ensembl chr17:52,411,733...52,418,788 		JBrowse link
G NT5DC1 5'-nucleotidase domain containing 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr12:71,790,973...71,909,109
Ensembl chr12:71,791,748...71,907,498 		JBrowse link
G NUF2 NUF2 component of NDC80 kinetochore complex disease_progression ISO RGD PMID:27237743 RGD:28867234 NCBI chr38:19,574,122...19,599,821
Ensembl chr38:19,574,125...19,599,064 		JBrowse link
G NUS1 NUS1 dehydrodolichyl diphosphate synthase subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr 1:57,866,760...57,895,505
Ensembl chr 1:57,866,879...57,893,077 		JBrowse link
G PARP1 poly(ADP-ribose) polymerase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28759004 NCBI chr 7:38,503,072...38,542,556
Ensembl chr 7:38,503,067...38,542,127 		JBrowse link
G PAX4 paired box 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18949370 NCBI chr14:8,714,251...8,719,387
Ensembl chr14:8,714,949...8,719,371 		JBrowse link
G PAX6 paired box 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16778180
G PDCD1 programmed cell death 1 treatment ISO CTD Direct Evidence: therapeutic
associated with influenza		 CTD
RGD		 PMID:21802280 PMID:27760326 RGD:40818261 NCBI chr25:51,606,559...51,618,903
Ensembl chr25:51,608,173...51,618,723 		JBrowse link
G PDGFRA platelet derived growth factor receptor alpha ISO ClinVar Annotator: match by term: Melanoma ClinVar PMID:24132921 PMID:28492532 NCBI chr13:46,729,722...46,775,828
Ensembl chr13:46,730,703...46,773,278 		JBrowse link
G PHGDH phosphoglycerate dehydrogenase ISO CTD Direct Evidence: marker/mechanism CTD PMID:21804546 NCBI chr17:56,806,912...56,833,765 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 chr34:12,600,140...12,681,905
Ensembl chr34:12,600,233...12,675,910 		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 2:53,447,802...53,527,563
Ensembl chr 2:53,448,286...53,524,970 		JBrowse link
G PIP4K2A phosphatidylinositol-5-phosphate 4-kinase type 2 alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr 2:10,464,019...10,642,365
Ensembl chr 2:10,463,010...10,640,327 		JBrowse link
G PKMYT1 protein kinase, membrane associated tyrosine/threonine 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr 6:38,200,445...38,210,458
Ensembl chr 6:38,200,322...38,210,414 		JBrowse link
G PLCB4 phospholipase C beta 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21499247 NCBI chr24:12,750,631...13,169,697
Ensembl chr24:12,752,083...13,169,745 		JBrowse link
G PMEL premelanosome protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:26640592 NCBI chr10:292,595...327,618
Ensembl chr10:292,597...300,098 		JBrowse link
G POMC proopiomelanocortin ISO CTD Direct Evidence: therapeutic CTD PMID:24412703 NCBI chr17:19,431,396...19,438,247
Ensembl chr17:19,431,585...19,434,440 		JBrowse link
G POT1 protection of telomeres 1 ISO ClinVar Annotator: match by term: Malignant melanoma, somatic
ClinVar Annotator: match by term: MELANOMA, MALIGNANT		 ClinVar PMID:24686846 PMID:25741868 PMID:26467025 PMID:28492532 PMID:30451293 More... NCBI chr14:10,987,385...11,067,473
Ensembl chr14:10,987,494...11,066,956 		JBrowse link
G PPARD peroxisome proliferator activated receptor delta ISO CTD Direct Evidence: therapeutic CTD PMID:28962521 NCBI chr12:4,492,867...4,579,340
Ensembl chr12:4,492,672...4,579,340 		JBrowse link
G PPARG peroxisome proliferator activated receptor gamma ISO CTD Direct Evidence: marker/mechanism|therapeutic CTD PMID:14512786 PMID:28962521 NCBI chr20:6,134,618...6,265,481
Ensembl chr20:6,050,357...6,207,981 		JBrowse link
G PPARGC1A PPARG coactivator 1 alpha severity ISO mRNA:increased expression:tumor (human) RGD PMID:23416000 RGD:7241823 NCBI chr 3:85,645,942...86,284,570
Ensembl chr 3:86,016,140...86,281,269 		JBrowse link
G PPP1R14B protein phosphatase 1 regulatory inhibitor subunit 14B ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr18:52,813,829...52,816,365
Ensembl chr18:52,814,174...52,816,365 		JBrowse link
G PPP6C protein phosphatase 6 catalytic subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:22842228 NCBI chr 9:57,884,035...57,921,080
Ensembl chr 5:43,094,942...43,095,395
Ensembl chr 9:43,094,942...43,095,395 		JBrowse link
G PRAME PRAME nuclear receptor transcriptional regulator ISO mRNA:increased expression:skin of body (human)
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:9047241 PMID:16179254 PMID:27505074 RGD:11535038 RGD:11535062 NCBI chr26:27,124,901...27,137,772
Ensembl chr26:27,124,902...27,136,112 		JBrowse link
G PRDX2 peroxiredoxin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16778180 NCBI chr20:49,352,271...49,356,755
Ensembl chr20:49,352,266...49,356,682 		JBrowse link
G PRSS23 serine protease 23 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr21:12,792,212...12,813,067
Ensembl chr21:12,793,373...12,803,136 		JBrowse link
G PTEN phosphatase and tensin homolog ISO ClinVar Annotator: match by term: Malignant melanoma, somatic | ClinVar Annotator: match by term: Melanoma ClinVar PMID:1097835 PMID:1945792 PMID:9467011 PMID:9915974 PMID:10866302 More... NCBI chr26:37,853,148...37,913,176
Ensembl chr26:37,835,661...37,913,176 		JBrowse link
G PTER phosphotriesterase related ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr 2:20,237,673...20,377,290
Ensembl chr 2:20,280,990...20,342,390 		JBrowse link
G PTGS2 prostaglandin-endoperoxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17145863 PMID:17499752 PMID:18454317 NCBI chr 7:19,668,079...19,674,903
Ensembl chr 7:19,668,082...19,674,903 		JBrowse link
G PTK2B protein tyrosine kinase 2 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:19718025 NCBI chr25:30,137,546...30,264,221
Ensembl chr25:30,138,209...30,264,133 		JBrowse link
G PTPRK protein tyrosine phosphatase receptor type K ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 PMID:22842228 NCBI chr 1:66,596,659...67,022,631
Ensembl chr 1:66,597,563...67,124,540 		JBrowse link
G PTPRO protein tyrosine phosphatase receptor type O ISO CTD Direct Evidence: marker/mechanism CTD PMID:21499247 NCBI chr27:31,082,334...31,322,024
Ensembl chr27:31,084,544...31,322,022 		JBrowse link
G QPCT glutaminyl-peptide cyclotransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:17145863 NCBI chr17:29,700,422...29,741,652
Ensembl chr17:29,716,378...29,741,221 		JBrowse link
G RAC1 Rac family small GTPase 1 ISO ClinVar Annotator: match by term: Malignant melanoma, somatic ClinVar PMID:25056119 PMID:26619011 NCBI chr 6:11,726,259...11,758,532
Ensembl chr 6:11,655,494...11,757,216 		JBrowse link
G RAC2 Rac family small GTPase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17145863 NCBI chr10:27,295,597...27,311,864
Ensembl chr10:27,295,640...27,311,397 		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 chr20:5,892,839...5,972,672
Ensembl chr20:5,892,834...5,972,090 		JBrowse link
G RAI1 retinoic acid induced 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr 5:41,687,436...41,797,354
Ensembl chr 5:41,688,479...41,808,918 		JBrowse link
G RAP1GAP RAP1 GTPase activating protein ISO CTD Direct Evidence: marker/mechanism
protein:decreased expression:epidermal melanocyte (human)		 CTD
RGD		 PMID:19147557 PMID:22614916 RGD:9835344 NCBI chr 2:77,509,592...77,554,620
Ensembl chr 2:77,527,914...77,544,205 		JBrowse link
G RASA2 RAS p21 protein activator 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26214590 PMID:26502337 NCBI chr23:37,298,422...37,509,234
Ensembl chr23:37,411,022...37,506,844 		JBrowse link
G RAX retina and anterior neural fold homeobox ISO CTD Direct Evidence: marker/mechanism CTD PMID:16778180 NCBI chr 1:16,940,671...16,945,127
Ensembl chr 1:16,940,658...16,943,633 		JBrowse link
G REC8 REC8 meiotic recombination protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:16778180 NCBI chr 8:4,165,637...4,171,488
Ensembl chr 8:4,165,879...4,171,486 		JBrowse link
G RFX6 regulatory factor X6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr 1:57,242,563...57,297,300
Ensembl chr 1:57,241,927...57,296,546 		JBrowse link
G RHOB ras homolog family member B ISO RGD PMID:12606940 RGD:704376 NCBI chr17:15,438,744...15,439,793
Ensembl chr17:15,439,143...15,441,136 		JBrowse link
G RIN1 Ras and Rab interactor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr18:50,975,002...50,982,052
Ensembl chr18:50,975,814...50,980,381 		JBrowse link
G RNASET2 ribonuclease T2 ISO human cells in mouse model RGD PMID:27014725 RGD:153002831 NCBI chr 1:54,779,453...54,820,697 JBrowse link
G ROS1 ROS proto-oncogene 1, receptor tyrosine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr 1:57,555,278...57,677,541
Ensembl chr 1:57,555,989...57,677,761 		JBrowse link
G RPP38 ribonuclease P/MRP subunit p38 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr 2:21,612,114...21,617,371
Ensembl chr 2:21,612,200...21,614,485 		JBrowse link
G RPS3 ribosomal protein S3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr21:23,180,515...23,187,034
Ensembl chr21:23,180,515...23,187,034 		JBrowse link
G RTEL1 regulator of telomere elongation helicase 1 ISO DNA:SNP:cds:rs75691080 (human) RGD PMID:25231748 RGD:152995261 NCBI chr24:47,219,977...47,248,791 JBrowse link
G S100A4 S100 calcium binding protein A4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29179997 NCBI chr 7:43,494,007...43,496,021 JBrowse link
G SAC3D1 SAC3 domain containing 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr18:52,148,661...52,151,920
Ensembl chr18:52,148,723...52,151,603 		JBrowse link
G SDHD succinate dehydrogenase complex subunit D ISO CTD Direct Evidence: marker/mechanism CTD PMID:25261935 NCBI chr 5:21,030,295...21,041,125 JBrowse link
G SETDB1 SET domain bifurcated histone lysine methyltransferase 1 severity ISO CTD Direct Evidence: marker/mechanism
protein:increased expression:dermis, subcutis, nucleus (human)		 CTD
RGD		 PMID:21983785 PMID:24673285 RGD:9590162 NCBI chr17:60,035,819...60,069,721
Ensembl chr17:60,037,379...60,069,551 		JBrowse link
G SF1 splicing factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr18:52,380,058...52,393,833
Ensembl chr18:52,380,211...52,393,048 		JBrowse link
G SIPA1 signal-induced proliferation-associated 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr18:51,560,551...51,571,291
Ensembl chr18:51,560,551...51,568,885 		JBrowse link
G SLC15A2 solute carrier family 15 member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22842228 NCBI chr33:25,154,415...25,190,715
Ensembl chr33:25,154,448...25,189,929 		JBrowse link
G SLC17A5 solute carrier family 17 member 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21499247 NCBI chr12:35,648,349...35,683,115
Ensembl chr12:35,649,376...35,683,534 		JBrowse link
G SLC25A45 solute carrier family 25 member 45 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr18:51,810,842...51,817,230
Ensembl chr18:51,811,039...51,816,094 		JBrowse link
G SLC35G2 solute carrier family 35 member G2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16778180 NCBI chr23:33,250,767...33,294,015
Ensembl chr23:33,290,960...33,292,198 		JBrowse link
G SLC39A12 solute carrier family 39 member 12 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr 2:18,991,734...19,064,899
Ensembl chr 2:18,992,031...19,063,647 		JBrowse link
G SLC45A2 solute carrier family 45 member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18563784 PMID:21559390 NCBI chr 4:73,838,684...73,868,222
Ensembl chr 4:73,815,291...73,867,437 		JBrowse link
G SLC5A5 solute carrier family 5 member 5 ISO CTD Direct Evidence: therapeutic CTD PMID:12489024 NCBI chr20:45,017,939...45,030,598
Ensembl chr20:45,018,119...45,030,209 		JBrowse link
G SLC6A11 solute carrier family 6 member 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21499247 NCBI chr20:7,431,015...7,559,903
Ensembl chr20:7,433,194...7,560,564 		JBrowse link
G SNAPC5 small nuclear RNA activating complex polypeptide 5 ISO ClinVar Annotator: match by term: Melanoma ClinVar PMID:22197931 NCBI chr30:30,759,501...30,765,484
Ensembl chr30:30,759,501...30,765,445 		JBrowse link
G SOCS1 suppressor of cytokine signaling 1 ameliorates ISO RGD PMID:19469017 RGD:150573701 NCBI chr 6:31,511,003...31,511,995
Ensembl chr 6:31,509,268...31,511,557 		JBrowse link
G SOD2 superoxide dismutase 2 ISO protein:increased expression:serum: RGD PMID:8541726 RGD:8547533 NCBI chr 1:48,943,472...48,955,158
Ensembl chr 1:48,836,262...48,955,706 		JBrowse link
G SOX2 SRY-box transcription factor 2 disease_progression ISO RGD PMID:21410764 RGD:8661664 NCBI chr34:14,853,000...14,855,153 JBrowse link
G SPP1 secreted phosphoprotein 1 ISO RGD PMID:15757900 RGD:1581337 NCBI chr32:11,354,070...11,362,325
Ensembl chr32:11,353,953...11,362,069 		JBrowse link
G STIP1 stress induced phosphoprotein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr18:52,854,262...52,868,187
Ensembl chr18:52,854,663...52,868,478 		JBrowse link
G STK11 serine/threonine kinase 11 ISO ClinVar Annotator: match by term: MELANOMA, MALIGNANT | ClinVar Annotator: match by term: Melanoma ClinVar PMID:9760200 PMID:10201537 PMID:10208439 PMID:10353780 PMID:15188174 More... NCBI chr20:57,558,966...57,579,163
Ensembl chr20:57,559,424...57,579,118 		JBrowse link
G STN1 STN1 subunit of CST complex ISO DNA:SNP:cds:rs9420907|rs2995264 (human) RGD PMID:25231748 RGD:152995261 NCBI chr28:16,203,607...16,246,468
Ensembl chr28:16,204,073...16,246,058 		JBrowse link
G STX17 syntaxin 17 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18641652 NCBI chr11:56,885,874...56,951,714
Ensembl chr11:56,885,174...56,945,767 		JBrowse link
G SUZ12 SUZ12 polycomb repressive complex 2 subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:25119042 NCBI chr 9:40,992,797...41,038,729
Ensembl chr 9:40,994,825...41,038,645 		JBrowse link
G SYK spleen associated tyrosine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:17145863 NCBI chr 1:95,903,501...95,955,577
Ensembl chr 1:95,903,566...95,955,583 		JBrowse link
G SYT4 synaptotagmin 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21499247 NCBI chr 7:47,555,110...47,565,313
Ensembl chr 7:47,509,852...47,563,714 		JBrowse link
G TAS2R60 taste 2 receptor member 60 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21499247 NCBI chr16:6,255,260...6,257,954 JBrowse link
G TERT telomerase reverse transcriptase ISO mRNA:increased expression:plasma
DNA:SNP:cds:rs455433|rs2736100 (human)
CTD Direct Evidence: therapeutic		 RGD
CTD		 PMID:14654933 PMID:20856939 PMID:25231748 RGD:152995261 RGD:2291969 NCBI chr34:11,288,622...11,307,790
Ensembl chr34:11,288,622...11,307,951 		JBrowse link
G TFPI2 tissue factor pathway inhibitor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17372906 NCBI chr14:19,399,259...19,403,890
Ensembl chr14:19,399,720...19,403,708 		JBrowse link
G TLR4 toll like receptor 4 ISO DNA:polymorphisms:exons:p.D299G (896A>G)(human;)
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:22552381 PMID:22842228 RGD:7777154 NCBI chr11:71,356,390...71,367,166
Ensembl chr11:71,356,390...71,367,165 		JBrowse link
G TMEM132B transmembrane protein 132B ISO CTD Direct Evidence: marker/mechanism CTD PMID:21499247 NCBI chr26:4,446,667...4,683,425
Ensembl chr26:4,452,371...4,961,436 		JBrowse link
G TMEM30B transmembrane protein 30B ISO CTD Direct Evidence: marker/mechanism CTD PMID:16778180
G TNC tenascin C ISO CTD Direct Evidence: marker/mechanism CTD PMID:22842228 NCBI chr11:69,077,532...69,169,673
Ensembl chr11:69,077,535...69,170,281 		JBrowse link
G TNF tumor necrosis factor ISO CTD Direct Evidence: therapeutic CTD PMID:9794839 PMID:9843018 PMID:10379864 PMID:18388930 NCBI chr12:1,074,561...1,076,425
Ensembl chr12:1,074,552...1,076,425 		JBrowse link
G TNFRSF19 TNF receptor superfamily member 19 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17187358 NCBI chr25:14,985,893...15,075,701
Ensembl chr25:14,927,599...15,055,449 		JBrowse link
G TP53 tumor protein p53 ISO ClinVar Annotator: match by term: Malignant melanoma, somatic
ClinVar Annotator: match by term: MELANOMA, MALIGNANT | ClinVar Annotator: match by term: Malignant melanoma, somatic
ClinVar Annotator: match by term: Malignant melanoma | ClinVar Annotator: match by term: Malignant melanoma, somatic
ClinVar Annotator: match by term: Malignant melanoma, somatic | ClinVar Annotator: match by term: Melanoma		 ClinVar PMID:253702 PMID:1349175 PMID:1359493 PMID:1565143 PMID:1565144 More... NCBI chr 5:32,561,406...32,565,149
Ensembl chr 5:32,560,598...32,574,109 		JBrowse link
G TRRAP transformation/transcription domain associated protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:21499247 NCBI chr 6:10,519,734...10,635,175
Ensembl chr 6:10,519,711...10,632,776 		JBrowse link
G TSPYL4 TSPY like 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr12:71,916,682...71,918,481 JBrowse link
G TYR tyrosinase disease_progression ISO CTD Direct Evidence: marker/mechanism RGD
CTD		 PMID:8609659 PMID:18488027 PMID:19578364 PMID:21559390 PMID:22834951 More... RGD:8694384 RGD:8694387 NCBI chr21:10,799,940...10,894,187
Ensembl chr21:10,799,940...10,894,191 		JBrowse link
G TYRP1 tyrosinase related protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26640592 NCBI chr11:33,317,084...33,336,029
Ensembl chr11:33,317,121...33,335,498 		JBrowse link
G USP6NL USP6 N-terminal like ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr 2:24,724,454...24,894,052
Ensembl chr 2:24,743,120...24,891,668 		JBrowse link
G VDR vitamin D receptor disease_progression
severity		 ISO DNA:SNPs:exons: (rs731236, rs2228570) (human)
DNA:SNP:promoter:rs4516035 (human)		 RGD PMID:10690530 PMID:19105801 RGD:8158067 RGD:8158068 NCBI chr27:6,852,915...6,909,466
Ensembl chr27:6,852,723...6,909,470 		JBrowse link
G VEGFA vascular endothelial growth factor A disease_progression ISO RGD PMID:12946796 RGD:7421569 NCBI chr12:12,209,032...12,224,978
Ensembl chr12:12,208,231...12,224,965 		JBrowse link
G VEGFC vascular endothelial growth factor C ISO CTD Direct Evidence: marker/mechanism CTD PMID:17562445 NCBI chr16:52,883,242...52,987,684
Ensembl chr16:52,883,139...52,987,563 		JBrowse link
G VGLL2 vestigial like family member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr 1:57,529,901...57,537,893
Ensembl chr 1:57,529,928...57,574,871 		JBrowse link
G WDR74 WD repeat domain 74 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr18:53,855,207...53,861,700
Ensembl chr18:53,855,282...53,861,698 		JBrowse link
G WFDC1 WAP four-disulfide core domain 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17145863 NCBI chr 5:68,067,894...68,095,749
Ensembl chr 5:68,067,885...68,096,067 		JBrowse link
G XRCC3 X-ray repair cross complementing 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11059748 NCBI chr 8:71,441,732...71,452,922
Ensembl chr 8:71,442,429...71,449,408 		JBrowse link
G ZNF438 zinc finger protein 438 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr 2:15,711,962...15,882,878
Ensembl chr 2:15,738,665...15,882,190 		JBrowse link
G ZNF831 zinc finger protein 831 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21499247 NCBI chr24:43,884,478...44,012,382
Ensembl chr24:43,924,030...43,989,609 		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 chr11:40,668,295...40,668,855
Ensembl chr11:40,668,295...40,668,855 		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 chr23:1,192,771...1,251,724
Ensembl chr23:1,184,392...1,252,255 		JBrowse link
G ACSS2 acyl-CoA synthetase short chain family member 2 treatment ISO RGD PMID:27539851 RGD:13831304 NCBI chr24:23,928,800...23,973,383
Ensembl chr24:23,928,838...23,972,651 		JBrowse link
G ANTXR1 ANTXR cell adhesion molecule 1 treatment ISO RGD PMID:19609240 PMID:19622764 RGD:9684925 RGD:9684939 NCBI chr10:67,829,573...68,021,368
Ensembl chr10:67,829,225...68,019,127 		JBrowse link
G BRAF B-Raf proto-oncogene, serine/threonine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:29179997 PMID:29438700 NCBI chr16:8,222,909...8,318,179
Ensembl chr16:8,222,907...8,317,906 		JBrowse link
G CALR calreticulin ISO CTD Direct Evidence: therapeutic CTD PMID:16388313 NCBI chr20:49,251,390...49,255,291
Ensembl chr20:49,251,777...49,255,245 		JBrowse link
G CCL20 C-C motif chemokine ligand 20 treatment ISO RGD PMID:14500387 RGD:7483600 NCBI chr25:40,506,385...40,509,903
Ensembl chr25:40,506,753...40,509,709 		JBrowse link
G CTLA4 cytotoxic T-lymphocyte associated protein 4 treatment ISO RGD PMID:24041689 RGD:7411680 NCBI chr37:12,647,712...12,653,874
Ensembl chr37:12,634,563...12,653,874 		JBrowse link
G EGR1 early growth response 1 ISO mRNA, protein:increased expression:salivary gland (mouse) RGD PMID:19517020 RGD:5131885 NCBI chr11:26,046,195...26,049,806
Ensembl chr11:26,046,228...26,048,575 		JBrowse link
G ESR2 estrogen receptor 2 severity ISO RGD PMID:20354658 RGD:8694122 NCBI chr 8:38,645,917...38,715,347
Ensembl chr 8:38,645,430...38,702,691 		JBrowse link
G HGF hepatocyte growth factor ISO RGD PMID:9823327 RGD:8548620 NCBI chr18:21,329,688...21,410,257
Ensembl chr18:21,332,817...21,410,263 		JBrowse link
G IFNB1 interferon beta 1 ISO CTD Direct Evidence: therapeutic CTD PMID:16417267 NCBI chr11:40,668,295...40,668,855
Ensembl chr11:40,668,295...40,668,855 		JBrowse link
G IKBKB inhibitor of nuclear factor kappa B kinase subunit beta ISO RGD PMID:19276165 RGD:7495758 NCBI chr16:23,359,551...23,419,114
Ensembl chr16:23,359,813...23,419,075 		JBrowse link
G IL18 interleukin 18 treatment ISO RGD PMID:12230493 PMID:17411412 RGD:8655870 RGD:8655901 NCBI chr 5:20,972,742...20,995,327
Ensembl chr 5:20,972,871...20,995,348 		JBrowse link
G IL1A interleukin 1 alpha treatment ISO RGD PMID:8061895 RGD:7794735 NCBI chr17:36,969,581...36,979,445
Ensembl chr17:36,970,573...36,979,435 		JBrowse link
G IL1B interleukin 1 beta ISO RGD PMID:1966551 RGD:7401226 NCBI chr17:37,019,329...37,033,388
Ensembl chr17:37,019,329...37,024,458 		JBrowse link
G IL2 interleukin 2 ISO RGD PMID:11884028 RGD:8662950 NCBI chr19:17,750,780...17,756,394
Ensembl chr19:17,750,780...17,756,394 		JBrowse link
G KDM1A lysine demethylase 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:29438700 NCBI chr 2:76,313,742...76,375,716
Ensembl chr 2:76,156,434...76,375,632 		JBrowse link
G KDM4C lysine demethylase 4C ISO CTD Direct Evidence: marker/mechanism CTD PMID:29438700 NCBI chr11:27,662,764...28,101,432
Ensembl chr11:27,693,536...28,101,801 		JBrowse link
G MC1R melanocortin 1 receptor ISO RGD PMID:20126537 RGD:5687319 NCBI chr 5:63,694,296...63,695,249 JBrowse link
G PDCD1 programmed cell death 1 treatment ISO RGD PMID:19208793 RGD:9589070 NCBI chr25:51,606,559...51,618,903
Ensembl chr25:51,608,173...51,618,723 		JBrowse link
G PTEN phosphatase and tensin homolog ISO CTD Direct Evidence: marker/mechanism CTD PMID:29179997 NCBI chr26:37,853,148...37,913,176
Ensembl chr26:37,835,661...37,913,176 		JBrowse link
G PXN paxillin ISO CTD Direct Evidence: marker/mechanism CTD PMID:18492274 NCBI chr26:16,157,231...16,224,028
Ensembl chr26:16,159,025...16,184,820 		JBrowse link
G TERT telomerase reverse transcriptase treatment ISO RGD PMID:19903903 RGD:11038656 NCBI chr34:11,288,622...11,307,790
Ensembl chr34:11,288,622...11,307,951 		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 chr10:1,791,273...1,807,710
Ensembl chr10:1,792,733...1,807,610 		JBrowse link
G ARHGAP9 Rho GTPase activating protein 9 ISO ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:28492532 NCBI chr10:1,576,114...1,583,611 JBrowse link
G ARHGEF25 Rho guanine nucleotide exchange factor 25 ISO ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:28492532 NCBI chr10:1,687,519...1,694,487
Ensembl chr10:1,687,513...1,695,238 		JBrowse link
G B4GALNT1 beta-1,4-N-acetyl-galactosaminyltransferase 1 ISO ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:28492532 NCBI chr10:1,703,846...1,756,837
Ensembl chr10:1,703,169...1,709,994 		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 chr20:37,355,499...37,364,298
Ensembl chr20:37,355,494...37,511,125 		JBrowse link
G BRAF B-Raf proto-oncogene, serine/threonine kinase 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, 1 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3		 ClinVar
OMIM		 PMID:2500657 PMID:16439621 PMID:16474404 PMID:17366577 PMID:17551924 More... NCBI chr16:8,222,909...8,318,179
Ensembl chr16:8,222,907...8,317,906 		JBrowse link
G CDK4 cyclin dependent kinase 4 ISO ClinVar Annotator: match by term: Cutaneous Malignant Melanoma, Dominant | ClinVar Annotator: match by term: Cutaneous malignant melanoma 9 | 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, 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: Cutaneous Malignant Melanoma, Dominant | 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, 3
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: 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: 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
ClinVar Annotator: match by term: Cutaneous Malignant Melanoma, Dominant | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5		 OMIM
ClinVar		 PMID:5377176 PMID:7652577 PMID:8528263 PMID:8968104 PMID:9228064 More... NCBI chr10:1,812,864...1,815,815
Ensembl chr10:1,812,886...1,815,789 		JBrowse link
G CDKN2A cyclin dependent kinase inhibitor 2A ISO ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Hereditary cutaneous melanoma | ClinVar Annotator: match by term: MELANOMA 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, 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 chr11:41,223,316...41,226,056
Ensembl chr11:41,223,315...41,264,379 		JBrowse link
G CDKN2B cyclin dependent kinase inhibitor 2B ISO ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:9622062 PMID:28492532 NCBI chr11:41,259,627...41,264,832 JBrowse link
G CYP27B1 cytochrome P450 family 27 subfamily B member 1 ISO ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 ClinVar PMID:28492532 NCBI chr10:1,825,224...1,830,845
Ensembl chr10:1,826,046...1,829,911 		JBrowse link
G DCTN2 dynactin subunit 2 ISO ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:28492532 NCBI chr10:1,620,702...1,634,385
Ensembl chr10:1,620,724...1,634,309 		JBrowse link
G DDIT3 DNA damage inducible transcript 3 ISO ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:28492532 NCBI chr10:1,606,693...1,612,410
Ensembl chr10:1,606,693...1,611,303 		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 chr20:37,364,836...37,441,486
Ensembl chr20:37,364,842...37,465,807 		JBrowse link
G DTX3 deltex E3 ubiquitin ligase 3 ISO ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:28492532 NCBI chr10:1,684,394...1,687,244
Ensembl chr10:1,683,410...1,686,814 		JBrowse link
G EEF1AKMT3 EEF1A lysine methyltransferase 3 ISO ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:28492532 NCBI chr10:1,833,759...1,842,646 JBrowse link
G FANCA FA complementation group A ISO ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 ClinVar PMID:28492532 NCBI chr 5:63,778,149...63,838,869
Ensembl chr 5:63,778,212...63,838,823 		JBrowse link
G GLI1 GLI family zinc finger 1 ISO ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:28492532 NCBI chr10:1,565,306...1,575,971
Ensembl chr10:1,565,244...1,575,982 		JBrowse link
G INHBC inhibin subunit beta C ISO ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:28492532 NCBI chr10:1,546,654...1,558,631
Ensembl chr10:1,547,075...1,558,645 		JBrowse link
G INHBE inhibin subunit beta E ISO ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:28492532 NCBI chr10:1,558,876...1,563,370
Ensembl chr10:1,559,770...1,562,885 		JBrowse link
G KIF5A kinesin family member 5A ISO ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:28492532 NCBI chr10:1,637,007...1,666,790
Ensembl chr10:1,636,932...1,664,767 		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 8:71,401,795...71,444,056
Ensembl chr 8:71,400,003...71,444,062 		JBrowse link
G LOC607393 neurexophilin-4 ISO ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:28492532 NCBI chr10:1,348,634...1,353,930
Ensembl chr10:1,352,470...1,353,321 		JBrowse link
G LRP1 LDL receptor related protein 1 ISO ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:28492532 NCBI chr10:1,260,256...1,341,705
Ensembl chr10:1,260,719...1,352,271 		JBrowse link
G MARCHF9 membrane associated ring-CH-type finger 9 ISO ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:28492532 NCBI chr10:1,819,133...1,823,314
Ensembl chr10:1,819,258...1,821,995 		JBrowse link
G MARS1 methionyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:28492532 NCBI chr10:1,588,503...1,606,752
Ensembl chr10:1,588,875...1,606,750 		JBrowse link
G MBD6 methyl-CpG binding domain protein 6 ISO ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:28492532 NCBI chr10:1,611,462...1,620,546
Ensembl chr10:1,613,643...1,619,745 		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 chr 5:63,694,296...63,695,249 JBrowse link
G METTL1 methyltransferase 1, tRNA methylguanosine ISO ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:28492532 NCBI chr10:1,831,088...1,833,818
Ensembl chr10:1,831,091...1,833,868 		JBrowse link
G MITF melanocyte inducing transcription factor ISO ClinVar Annotator: match by term: MELANOMA AND RENAL CELL CARCINOMA, SUSCEPTIBILITY TO
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, 8		 ClinVar
OMIM		 PMID:2440678 PMID:8589691 PMID:8659547 PMID:9536098 PMID:10587587 More... NCBI chr20:21,772,147...21,873,545
Ensembl chr20:21,612,927...21,870,578 		JBrowse link
G NDUFA4L2 NDUFA4 mitochondrial complex associated like 2 ISO ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:28492532 NCBI chr10:1,362,479...1,365,203
Ensembl chr10:1,362,577...1,364,515 		JBrowse link
G OS9 OS9 endoplasmic reticulum lectin ISO ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:28492532 NCBI chr10:1,757,070...1,787,822
Ensembl chr10:1,757,103...1,787,203 		JBrowse link
G PIP4K2C phosphatidylinositol-5-phosphate 4-kinase type 2 gamma ISO ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:28492532 NCBI chr10:1,670,076...1,680,975
Ensembl chr10:1,672,380...1,680,840 		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: Cutaneous malignant melanoma 9 | 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, 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, 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: 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
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		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:19461895 PMID:19763152 More... NCBI chr14:10,987,385...11,067,473
Ensembl chr14:10,987,494...11,066,956 		JBrowse link
G R3HDM2 R3H domain containing 2 ISO ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:28492532 NCBI chr10:1,377,664...1,504,008
Ensembl chr10:1,370,350...1,504,017 		JBrowse link
G SHMT2 serine hydroxymethyltransferase 2 ISO ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:28492532 NCBI chr10:1,357,347...1,362,511
Ensembl chr10:1,356,706...1,362,305 		JBrowse link
G SPIRE2 spire type actin nucleation factor 2 ISO ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 ClinVar PMID:28492532 NCBI chr 5:63,732,855...63,765,162
Ensembl chr 5:63,732,842...63,753,419 		JBrowse link
G STAC3 SH3 and cysteine rich domain 3 ISO ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:28492532 NCBI chr10:1,370,340...1,377,769 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 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
OMIM		 PMID:9536098 PMID:9887330 PMID:10201537 PMID:10208439 PMID:10676634 More... NCBI chr20:57,558,966...57,579,163
Ensembl chr20:57,559,424...57,579,118 		JBrowse link
G TCF25 transcription factor 25 ISO ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 ClinVar PMID:28492532 NCBI chr 5:63,697,627...63,729,780
Ensembl chr 5:63,681,752...63,729,684 		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 chr34:11,288,622...11,307,790
Ensembl chr34:11,288,622...11,307,951 		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 chr 5:32,561,406...32,565,149
Ensembl chr 5:32,560,598...32,574,109 		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: Cutaneous malignant melanoma 9 | 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 chr10:1,810,047...1,812,702
Ensembl chr10:1,810,159...1,812,692 		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 chr21:10,799,940...10,894,187
Ensembl chr21:10,799,940...10,894,191 		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 8:71,441,732...71,452,922
Ensembl chr 8:71,442,429...71,449,408 		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 OMIM
ClinVar		 PMID:865368 PMID:2677576 PMID:5001868 PMID:7566978 PMID:7640518 More... NCBI chr11:41,223,316...41,226,056
Ensembl chr11:41,223,315...41,264,379 		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 ClinVar Annotator: match by term: Melanoma-pancreatic cancer syndrome OMIM
ClinVar		 PMID:2319082 PMID:2813514 PMID:5001868 PMID:7566978 PMID:7632931 More... NCBI chr11:41,223,316...41,226,056
Ensembl chr11:41,223,315...41,264,379 		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 chr20:37,355,499...37,364,298
Ensembl chr20:37,355,494...37,511,125 		JBrowse link
G TMEM127 transmembrane protein 127 ISO ClinVar Annotator: match by term: Intraocular melanoma ClinVar PMID:25741868 PMID:28492532 NCBI chr17:34,512,753...34,527,208
Ensembl chr17:34,512,792...34,523,692 		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 chr11:21,157,790...21,218,750
Ensembl chr11:21,163,398...21,218,190 		JBrowse link
G AGT angiotensinogen ISO protein:increased expression:serum RGD PMID:19394758 RGD:8548874 NCBI chr 4:8,681,192...8,694,059
Ensembl chr 4:8,683,798...8,693,880 		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 8:72,317,399...72,335,686
Ensembl chr 8:72,317,869...72,335,193 		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:41,180,082...41,191,579
Ensembl chr  X:41,180,250...41,191,310 		JBrowse link
G ARHGAP44 Rho GTPase activating protein 44 severity ISO DNA:SNP:intron: (rs72635537) (human) RGD PMID:28510328 RGD:401901274 NCBI chr 5:36,790,059...36,957,932
Ensembl chr 5:36,789,814...36,957,411 		JBrowse link
G B2M beta-2-microglobulin ISO ClinVar Annotator: match by term: Cutaneous melanoma ClinVar PMID:26619011 NCBI chr30:11,331,574...11,337,991
Ensembl chr30:11,331,569...11,337,997 		JBrowse link
G BCL2L12 BCL2 like 12 ISO ClinVar Annotator: match by term: Cutaneous melanoma ClinVar PMID:26619011 NCBI chr 1:106,865,346...106,873,329 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 5:29,294,080...29,314,837
Ensembl chr 5:29,294,692...29,312,771 		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 chr16:8,222,909...8,318,179
Ensembl chr16:8,222,907...8,317,906 		JBrowse link
G BRCA2 BRCA2 DNA repair associated disease_progression ISO DNA:SNP: :rs206118, rs3752447, rs10492396 (human) RGD PMID:25243787 RGD:11344896 NCBI chr25:7,734,450...7,797,851
Ensembl chr25:7,734,453...7,797,815 		JBrowse link
G CCL2 C-C motif chemokine ligand 2 disease_progression ISO DNA:SNP: :2578A>G (human) RGD PMID:17169533 RGD:9491398 NCBI chr 9:39,008,187...39,009,932 JBrowse link
G CD40 CD40 molecule disease_progression ISO RGD PMID:8952530 RGD:8547772 NCBI chr24:33,352,992...33,383,488
Ensembl chr24:33,372,930...33,383,301 		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 chr10:1,812,864...1,815,815
Ensembl chr10:1,812,886...1,815,789 		JBrowse link
G CDKN2A cyclin dependent kinase inhibitor 2A ISO ClinVar Annotator: match by term: Cutaneous melanoma | ClinVar Annotator: match by term: Malignant melanoma of skin ClinVar PMID:7777060 PMID:7777061 PMID:7780957 PMID:8521414 PMID:8573142 More... NCBI chr11:41,223,316...41,226,056
Ensembl chr11:41,223,315...41,264,379 		JBrowse link
G CHAF1B chromatin assembly factor 1 subunit B severity ISO protein:increased expression:skin: RGD PMID:20178651 RGD:9587476 NCBI chr31:31,599,840...31,620,436
Ensembl chr31:31,600,448...31,619,784 		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 chr37:25,186,928...25,213,255
Ensembl chr37:25,187,066...25,212,642 		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 chr 6:37,410,201...37,536,688
Ensembl chr 6:37,409,930...37,534,176 		JBrowse link
G CRNKL1 crooked neck pre-mRNA splicing factor 1 ISO ClinVar Annotator: match by term: Cutaneous melanoma ClinVar PMID:26619011 NCBI chr24:3,294,607...3,310,846
Ensembl chr24:3,294,616...3,310,702 		JBrowse link
G CTCF CCCTC-binding factor ISO DNA:mutations:multiple (human) RGD PMID:27974201 RGD:151356739 NCBI chr 5:81,808,512...81,863,811
Ensembl chr 5:81,809,393...81,858,655 		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 chr23:10,559,722...10,572,933
Ensembl chr23:10,559,718...10,572,927 		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 RGD:151347864 NCBI chr12:653,800...671,190
Ensembl chr12:653,807...670,543 		JBrowse link
G DNMT3B DNA methyltransferase 3 beta disease_progression ISO RGD PMID:21081840 RGD:9589074 NCBI chr24:22,096,386...22,123,378
Ensembl chr24:22,096,349...22,122,900 		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 chr 9:22,760,373...22,785,367
Ensembl chr 9:22,759,256...22,785,294 		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 chr16:1,926,443...1,991,995
Ensembl chr16:1,925,956...1,991,838 		JBrowse link
G FANCA FA complementation group A disease_progression ISO DNA:SNP: :rs62068372 (human) RGD PMID:25243787 RGD:11344896 NCBI chr 5:63,778,149...63,838,869
Ensembl chr 5:63,778,212...63,838,823 		JBrowse link
G FANCD2 FA complementation group D2 ISO mRNA,protein:increased expression:skin,nucleus: RGD PMID:21697891 RGD:11046262 NCBI chr20:8,240,270...8,297,269
Ensembl chr20:8,240,311...8,297,568 		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 chr15:50,187,579...50,417,188
Ensembl chr15:50,189,240...50,417,195 		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...
G GNAS GNAS complex locus ISO ClinVar Annotator: match by term: Cutaneous melanoma ClinVar PMID:1517386 PMID:1594625 PMID:1944469 PMID:2549426 PMID:3720010 More... NCBI chr24:43,643,409...43,658,641
Ensembl chr24:43,643,405...43,658,657 		JBrowse link
G GPX1 glutathione peroxidase 1 ISO mRNA:increased expression:skin of body (human) RGD PMID:29535818 RGD:152023655 NCBI chr20:39,889,165...39,890,253
Ensembl chr20:39,889,174...39,890,260 		JBrowse link
G GRM1 glutamate metabotropic receptor 1 ISO OMIM:608035 | OMIM:612263 MouseDO NCBI chr 1:37,205,817...37,600,048
Ensembl chr 1:37,206,542...37,598,134 		JBrowse link
G HIF1A hypoxia inducible factor 1 subunit alpha ISO protein:increased expression:epidermis (human) RGD PMID:19558170 RGD:8695922 NCBI chr 8:36,614,045...36,656,692
Ensembl chr 8:36,614,045...36,656,692 		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 chr18:25,642,844...25,644,717
Ensembl chr18:25,642,844...25,644,717 		JBrowse link
G ICAM1 intercellular adhesion molecule 1 disease_progression ISO DNA:missense mutation:exon:p.R241G (human) RGD PMID:16313300 RGD:8547698 NCBI chr20:50,818,715...50,827,914
Ensembl chr20:50,818,715...50,827,914 		JBrowse link
G IDH1 isocitrate dehydrogenase (NADP(+)) 1 ISO ClinVar Annotator: match by term: Cutaneous melanoma | ClinVar Annotator: match by term: Malignant melanoma of skin ClinVar PMID:18772396 PMID:19657110 PMID:19798509 PMID:19818334 PMID:20946881 More... NCBI chr37:16,512,027...16,531,269
Ensembl chr37:16,512,770...16,531,219 		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 chr13:47,108,442...47,190,935
Ensembl chr13:47,108,504...47,190,029 		JBrowse link
G KNSTRN kinetochore localized astrin (SPAG5) binding protein ISO ClinVar Annotator: match by term: Cutaneous melanoma ClinVar PMID:26619011 NCBI chr30:7,562,738...7,573,514
Ensembl chr30:7,562,807...7,572,950 		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 chr27:22,261,753...22,296,704
Ensembl chr27:22,257,941...22,293,369 		JBrowse link
G LOC488436 serine/threonine-protein kinase 19-like ISO ClinVar Annotator: match by term: Cutaneous melanoma ClinVar PMID:26619011 NCBI chr36:27,227,496...27,228,457 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 chr18:25,647,024...25,662,646
Ensembl chr18:25,647,882...25,664,220 		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 chr30:30,683,192...30,760,479
Ensembl chr30:30,683,107...30,760,479 		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 chr20:55,465,460...55,487,629
Ensembl chr20:55,465,212...55,487,641 		JBrowse link
G MIR21 microRNA mir-21 disease_progression ISO RNA:increased expression:skin (human) RGD PMID:26150475 RGD:11342032 NCBI chr 9:34,340,550...34,340,609
Ensembl chr 9:34,340,533...34,340,624 		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 5:28,978,385...28,986,644
Ensembl chr 5:28,978,473...28,986,648 		JBrowse link
G MMP2 matrix metallopeptidase 2 severity ISO mRNA:increased expression:skin RGD PMID:12404291 PMID:18251742 PMID:20966734 RGD:13204786 RGD:8657055 RGD:8657075 NCBI chr 2:60,471,092...60,492,991
Ensembl chr 2:60,471,257...60,494,113 		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:12404291 PMID:17346338 RGD:13204786 RGD:8547886 NCBI chr24:33,274,260...33,281,116
Ensembl chr24:33,274,268...33,281,293 		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 2:84,818,893...84,939,283
Ensembl chr 2:84,787,708...84,939,114 		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 chr13:25,200,772...25,205,309
Ensembl chr13:25,200,577...25,205,309 		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 chr17:52,411,733...52,418,788
Ensembl chr17:52,411,733...52,418,788 		JBrowse link
G OCA2 OCA2 melanosomal transmembrane protein susceptibility ISO DNA:snps:exon, intron:multiple (human)
DNA:snp:cds:p.R419Q (rs1800407) (human)
DNA:missense mutation:cds:p.H615R (rs1800414) (human)		 RGD PMID:15889046 PMID:19710684 PMID:24617981 RGD:9491818 RGD:9491829 RGD:9491831 NCBI chr 3:32,361,825...32,713,631
Ensembl chr 3:32,361,517...32,713,572 		JBrowse link
G PDCD4 programmed cell death 4 disease_progression ISO mRNA:decreased expression:skin (human) RGD PMID:26150475 RGD:11342032 NCBI chr28:22,198,274...22,227,184
Ensembl chr28:22,198,322...22,226,717 		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 chr34:12,600,140...12,681,905
Ensembl chr34:12,600,233...12,675,910 		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 2:53,447,802...53,527,563
Ensembl chr 2:53,448,286...53,524,970 		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 chr14:10,987,385...11,067,473
Ensembl chr14:10,987,494...11,066,956 		JBrowse link
G PPP6C protein phosphatase 6 catalytic subunit ISO ClinVar Annotator: match by term: Malignant melanoma of skin ClinVar PMID:26619011 NCBI chr 9:57,884,035...57,921,080
Ensembl chr 5:43,094,942...43,095,395
Ensembl chr 9:43,094,942...43,095,395 		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 chr26:37,853,148...37,913,176
Ensembl chr26:37,835,661...37,913,176 		JBrowse link
G RAC1 Rac family small GTPase 1 ISO ClinVar Annotator: match by term: Cutaneous melanoma ClinVar PMID:25056119 PMID:26619011 NCBI chr 6:11,726,259...11,758,532
Ensembl chr 6:11,655,494...11,757,216 		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 chr20:5,892,839...5,972,672
Ensembl chr20:5,892,834...5,972,090 		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 chr37:6,922,150...6,962,474
Ensembl chr37:6,924,047...6,962,896 		JBrowse link
G SF3B2 splicing factor 3b subunit 2 ISO ClinVar Annotator: match by term: Malignant melanoma of skin ClinVar PMID:26619011 NCBI chr18:51,197,924...51,212,397
Ensembl chr18:51,197,939...51,212,354 		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 4:73,838,684...73,868,222
Ensembl chr 4:73,815,291...73,867,437 		JBrowse link
G STAT3 signal transducer and activator of transcription 3 disease_progression ISO RGD PMID:21876460 RGD:8694297 NCBI chr 9:20,539,660...20,614,631
Ensembl chr 9:20,539,697...20,612,672 		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 chr20:57,558,966...57,579,163
Ensembl chr20:57,559,424...57,579,118 		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 chr 5:32,561,406...32,565,149
Ensembl chr 5:32,560,598...32,574,109 		JBrowse link
G TP73 tumor protein p73 ISO mRNA:increased expression:skin of body (human) RGD PMID:30420492 RGD:151347580 NCBI chr 5:58,194,385...58,241,159
Ensembl chr 5:58,187,826...58,240,839 		JBrowse link
G TYR tyrosinase susceptibility ISO DNA:missense mutation:cds:p.R402Q(human) RGD PMID:21906913 RGD:8694390 NCBI chr21:10,799,940...10,894,187
Ensembl chr21:10,799,940...10,894,191 		JBrowse link
G VDR vitamin D receptor no_association
susceptibility		 ISO DNA:SNPs: :multiple
DNA:missense mutation, silent mutation: :p,M1T, p.I352 (c.1056T>C) (rs2228570, rs731236) (human)		 RGD PMID:16990805 PMID:19615888 PMID:22576141 RGD:8157629 RGD:8158071 RGD:8158075 NCBI chr27:6,852,915...6,909,466
Ensembl chr27:6,852,723...6,909,470 		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 ClinVar
OMIM		 PMID:666627 PMID:1429711 PMID:1642278 PMID:1676041 PMID:1711223 More... NCBI chr21:10,799,940...10,894,187
Ensembl chr21:10,799,940...10,894,191 		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 ISO mRNA,protein:decreased expression: :
ClinVar Annotator: match by term: Melanoma, uveal, susceptibility to, 2 | ClinVar Annotator: match by term: Uveal melanoma		 RGD
OMIM
ClinVar		 PMID:16341802 PMID:19197335 PMID:21874000 PMID:23032617 PMID:23684012 More... RGD:9586037 NCBI chr20:37,355,499...37,364,298
Ensembl chr20:37,355,494...37,511,125 		JBrowse link
G BIRC7 baculoviral IAP repeat containing 7 exacerbates ISO mRNA:increased expression:uvea (human) RGD PMID:31964418 RGD:153344516 NCBI chr24:46,950,700...46,956,375
Ensembl chr24:46,952,474...46,955,495 		JBrowse link
G BRCA2 BRCA2 DNA repair associated susceptibility ISO DNA:mutations: : RGD PMID:22187320 RGD:9068467 NCBI chr25:7,734,450...7,797,851
Ensembl chr25:7,734,453...7,797,815 		JBrowse link
G CRP C-reactive protein disease_progression ISO RGD PMID:23057648 RGD:9491834 NCBI chr38:22,396,787...22,398,180
Ensembl chr38:22,396,263...22,399,166 		JBrowse link
G CYSLTR2 cysteinyl leukotriene receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27089179 PMID:33288675 NCBI chr22:2,914,960...2,962,517
Ensembl chr22:2,917,514...2,918,551 		JBrowse link
G DLA88 MHC class I DLA-88 severity ISO protein:increased expression:tumor of uvea (human) RGD PMID:9286277 RGD:7364941 NCBI chr12:892,442...895,691
Ensembl chr12:892,388...1,021,690 		JBrowse link
G EIF1AX eukaryotic translation initiation factor 1A X-linked ISO CTD Direct Evidence: marker/mechanism CTD PMID:23793026 NCBI chr  X:16,081,335...16,102,627
Ensembl chr  X:16,081,392...16,099,142 		JBrowse link
G GNA11 G protein subunit alpha 11 ISO ClinVar Annotator: match by term: Uveal melanoma ClinVar PMID:1328859 PMID:2549426 PMID:21083380 PMID:21444680 PMID:22733540 More...
G GNAQ G protein subunit alpha q ISO ClinVar Annotator: match by term: Uveal melanoma ClinVar PMID:1328859 PMID:2549426 PMID:18719078 PMID:19078957 PMID:21083380 More... NCBI chr 1:80,733,530...80,928,065
Ensembl chr 1:80,715,366...80,928,065 		JBrowse link
G GRM1 glutamate metabotropic receptor 1 ISO OMIM:155720 | OMIM:606660 | OMIM:606661 MouseDO NCBI chr 1:37,205,817...37,600,048
Ensembl chr 1:37,206,542...37,598,134 		JBrowse link
G IGF1 insulin like growth factor 1 disease_progression ISO RGD PMID:23197685 RGD:8548834 NCBI chr15:41,203,320...41,275,964
Ensembl chr15:41,202,518...41,275,794 		JBrowse link
G JMJD6 jumonji domain containing 6, arginine demethylase and lysine hydroxylase ISO CTD Direct Evidence: marker/mechanism CTD PMID:30619488 NCBI chr 9:4,037,307...4,076,119
Ensembl chr 9:4,037,439...4,076,123 		JBrowse link
G KDM5B lysine demethylase 5B severity ISO protein:increased expression:uvea (human) RGD PMID:22669717 RGD:9587775 NCBI chr 7:336,452...415,568
Ensembl chr 7:330,705...412,386 		JBrowse link
G KDR kinase insert domain receptor disease_progression ISO RGD PMID:21984395 RGD:8549718 NCBI chr13:47,442,861...47,484,574
Ensembl chr13:47,442,764...47,485,042 		JBrowse link
G MBD4 methyl-CpG binding domain 4, DNA glycosylase susceptibility ISO ClinVar Annotator: match by term: Melanoma, uveal, susceptibility to, 1 ClinVar
OMIM		 PMID:28492532 PMID:29760383 PMID:30049810 PMID:30714079 PMID:32239153 More... NCBI chr20:5,716,162...5,725,068
Ensembl chr20:5,716,239...5,724,881 		JBrowse link
G MCAM melanoma cell adhesion molecule disease_progression ISO RGD PMID:19958117 RGD:7364775 NCBI chr 5:14,590,252...14,598,901
Ensembl chr 5:14,567,238...14,598,149 		JBrowse link
G PLCB4 phospholipase C beta 4 ISO ClinVar Annotator: match by term: Uveal melanoma ClinVar PMID:31186267 NCBI chr24:12,750,631...13,169,697
Ensembl chr24:12,752,083...13,169,745 		JBrowse link
G PRAME PRAME nuclear receptor transcriptional regulator severity ISO mRNA:increased expression:uvea (human) RGD PMID:27486988 RGD:11535039 NCBI chr26:27,124,901...27,137,772
Ensembl chr26:27,124,902...27,136,112 		JBrowse link
G SERPINE1 serpin family E member 1 treatment ISO human gene in mouse model RGD PMID:9326241 RGD:8547806 NCBI chr 6:8,719,547...8,727,160
Ensembl chr 6:8,720,825...8,726,301 		JBrowse link
G SERPINF1 serpin family F member 1 severity ISO RGD PMID:23793989 RGD:8554893 NCBI chr 9:45,891,368...45,902,768
Ensembl chr 9:45,891,410...45,902,765 		JBrowse link
G SF3B1 splicing factor 3b subunit 1 ISO ClinVar Annotator: match by term: Uveal melanoma ClinVar PMID:25741868 PMID:26619011 NCBI chr37:6,922,150...6,962,474
Ensembl chr37:6,924,047...6,962,896 		JBrowse link
G TMEM127 transmembrane protein 127 ISO ClinVar Annotator: match by term: Uveal melanoma ClinVar PMID:25741868 PMID:28492532 NCBI chr17:34,512,753...34,527,208
Ensembl chr17:34,512,792...34,523,692 		JBrowse link
G VEGFA vascular endothelial growth factor A ISO protein:increased expression:iris, ciliary body, vitreous body; RGD PMID:11914216 RGD:7483591 NCBI chr12:12,209,032...12,224,978
Ensembl chr12:12,208,231...12,224,965 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15603
    disease of cellular proliferation 7286
      cancer 5292
        cell type cancer 3646
          melanoma 380
            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 + 44
            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 + 103
            spinal cord melanoma 0
            uveal melanoma + 23
paths to the root