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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

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



show annotations for term's descendants           Sort by:
melanoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCB5 ATP binding cassette subfamily B member 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15899824 NCBI chr 7:21,302,954...21,432,569
Ensembl chr 7:20,620,875...20,746,634
JBrowse link
G ACER3 alkaline ceramidase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr11:71,911,204...72,077,528
Ensembl chr11:75,557,846...75,717,586
JBrowse link
G ADAMTS20 ADAM metallopeptidase with thrombospondin type 1 motif 20 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21559390 NCBI chr12:45,178,058...45,369,042
Ensembl chr12:46,046,555...46,236,676
JBrowse link
G AGER advanced glycosylation end-product specific receptor treatment ISO RGD PMID:15009731 RGD:8695970 NCBI chr 6:31,828,363...31,831,981
Ensembl chr 6:32,708,251...32,711,641
JBrowse link
G AKR1B10 aldo-keto reductase family 1 member B10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21499247 NCBI chr 7:126,486,012...126,499,852
Ensembl chr 7:138,992,835...139,006,003
JBrowse link
G ALDH1A1 aldehyde dehydrogenase 1 family member A1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:31580832 NCBI chr 9:51,737,305...51,916,648
Ensembl chr 9:71,680,890...71,814,085
JBrowse link
G ALDH1A3 aldehyde dehydrogenase 1 family member A3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:31580832 NCBI chr15:79,603,893...79,640,866
Ensembl chr15:98,891,770...98,928,396
JBrowse link
G AMIGO2 adhesion molecule with Ig like domain 2 treatment ISO RGD PMID:26553931 RGD:14392781 NCBI chr12:41,652,954...41,656,393
Ensembl chr12:42,525,858...42,527,426
JBrowse link
G APEX1 apurinic/apyrimidinic endodeoxyribonuclease 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16373707 NCBI chr14:1,329,745...1,332,315
Ensembl chr14:19,381,911...19,384,542
JBrowse link
G ARL2 ARF like GTPase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr11:60,370,499...60,378,553
Ensembl chr11:63,710,622...63,719,103
JBrowse link
G ARL5B ARF like GTPase 5B ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr10:18,978,412...19,000,643
Ensembl chr10:19,311,639...19,325,801
JBrowse link
G ARNT aryl hydrocarbon receptor nuclear translocator ISO CTD Direct Evidence: marker/mechanism CTD PMID:21983785 NCBI chr 1:126,160,017...126,226,222
Ensembl chr 1:129,809,431...129,875,629
JBrowse link
G ARPC2 actin related protein 2/3 complex subunit 2 ISO protein:increased expression:nevus (human) RGD PMID:19332774 RGD:11049176 NCBI chr2B:105,478,035...105,513,665
Ensembl chr2B:224,076,356...224,111,643
JBrowse link
G ASF1A anti-silencing function 1A histone chaperone ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr 6:116,702,314...116,717,445
Ensembl chr 6:120,843,461...120,858,471
JBrowse link
G ASIP agouti signaling protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:18488027 PMID:18641652 PMID:21983785 NCBI chr20:30,583,038...30,592,726
Ensembl chr20:31,718,169...31,727,217
JBrowse link
G ASS1 argininosuccinate synthase 1 ISO RGD PMID:12359751 RGD:4140479 NCBI chr 9:101,569,442...101,625,899
Ensembl chr 9:130,219,993...130,276,036
JBrowse link
G ATM ATM serine/threonine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:21983787 NCBI chr11:103,109,979...103,256,405
Ensembl chr11:106,584,228...106,727,041
JBrowse link
G ATRX ATRX chromatin remodeler disease_progression ISO protein:decreased expression:skin: RGD PMID:24468746 RGD:9586028 NCBI chr  X:66,682,968...66,969,421
Ensembl chr  X:76,795,574...77,083,486
JBrowse link
G AURKA aurora kinase A ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr20:52,707,757...52,730,579
Ensembl chr20:53,994,881...54,017,339
JBrowse link
G BATF2 basic leucine zipper ATF-like transcription factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr11:60,344,306...60,353,448
Ensembl chr11:63,685,121...63,694,280
JBrowse link
G BCL2 BCL2 apoptosis regulator severity ISO protein:increased expression:lymph node (human) RGD PMID:8783649 RGD:11526106 NCBI chr18:56,481,212...56,679,012
Ensembl chr18:59,802,443...59,992,100
JBrowse link
G BCL2L1 BCL2 like 1 disease_progression ISO protein:increased expression:skin, subcutaneous tissue (human) RGD PMID:17384650 RGD:11353861 NCBI chr20:27,955,688...28,015,950
Ensembl chr20:29,088,055...29,146,585
JBrowse link
G BMP4 bone morphogenetic protein 4 susceptibility ISO DNA:SNP:cds:6007C>T (rs17563)(human) RGD PMID:19557432 RGD:9068447 NCBI chr14:34,542,132...34,549,286
Ensembl chr14:52,821,872...52,828,752
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: Melanoma
DNA:mutations: :
RGD
ClinVar
PMID:12068308 PMID:12198537 PMID:12447372 PMID:12619120 PMID:12644542 More... RGD:11567259 RGD:11567267 NCBI chr 7:132,651,908...132,855,422
Ensembl chr 7:145,138,510...145,327,115
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 chr13:13,574,422...13,658,967
Ensembl chr13:32,010,066...32,091,332
JBrowse link
G BRD2 bromodomain containing 2 ISO protein:mRNA:skin: RGD PMID:23950209 RGD:9586346 NCBI chr 6:32,538,130...32,550,823
Ensembl chr 6:33,657,648...33,666,031
JBrowse link
G BRD4 bromodomain containing 4 ISO protein:mRNA:skin: RGD PMID:23950209 RGD:9586346 NCBI chr19:14,768,239...14,805,770
Ensembl chr19:15,754,930...15,789,600
JBrowse link
G BSG basigin (Ok blood group) ISO CTD Direct Evidence: marker/mechanism CTD PMID:36574092 Ensembl chr19:539,815...551,456 JBrowse link
G BZW1 basic leucine zipper and W2 domains 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr2B:88,067,041...88,079,647
Ensembl chr2B:206,225,963...206,238,587
JBrowse link
G C3 complement C3 treatment ISO RGD PMID:17146472 RGD:7401279 NCBI chr19:5,708,211...5,753,178
Ensembl chr19:6,629,287...6,674,699
JBrowse link
G C9H11orf68 chromosome 9 C11orf68 homolog ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr11:61,277,154...61,279,408 JBrowse link
G CAPN1 calpain 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr11:60,545,837...60,576,631
Ensembl chr11:63,886,015...63,916,021
JBrowse link
G CASP10 caspase 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18563783 NCBI chr2B:88,440,199...88,479,277
Ensembl chr2B:206,595,776...206,641,775
JBrowse link
G CASP8 caspase 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18563783 PMID:21983787 NCBI chr2B:88,490,611...88,542,132
Ensembl chr2B:206,669,544...206,696,468
JBrowse link
G CAT catalase ISO protein:increased activity:melanocyte:
protein:increased activity:multiple:
RGD PMID:9758419 PMID:15224238 RGD:9479151 RGD:9479742 NCBI chr11:34,413,253...34,446,831
Ensembl chr11:34,289,603...34,323,160
JBrowse link
G CAV1 caveolin 1 disease_progression ISO RGD PMID:22134245 RGD:8661767 NCBI chr 7:108,497,125...108,533,090
Ensembl chr 7:121,193,424...121,229,655
JBrowse link
G CBS cystathionine beta-synthase ISO CTD Direct Evidence: marker/mechanism CTD PMID:25205294 NCBI chr21:29,361,519...29,385,610
Ensembl chr21:42,670,530...42,690,932
JBrowse link
G CCDC63 coiled-coil domain containing 63 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21499247 NCBI chr12:108,417,758...108,477,163
Ensembl chr12:111,816,429...111,870,006
JBrowse link
G CD163L1 CD163 molecule like 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22842228 NCBI chr12:7,497,261...7,590,057
Ensembl chr12:7,656,113...7,749,646
JBrowse link
G CD274 CD274 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:20143437 NCBI chr 9:5,269,270...5,289,629
Ensembl chr 9:5,454,391...5,474,402
JBrowse link
G CD40 CD40 molecule treatment ISO RGD PMID:17327609 PMID:22421945 RGD:11522740 RGD:11522745 NCBI chr20:42,455,711...42,467,139
Ensembl chr20:43,541,619...43,552,994
JBrowse link
G CDK2 cyclin dependent kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21559390 NCBI chr12:32,940,225...32,946,236
Ensembl chr12:33,189,934...33,195,945
JBrowse link
G CDK4 cyclin dependent kinase 4 ISO ClinVar Annotator: match by term: Malignant melanoma, somatic ClinVar PMID:5377176 PMID:7652577 PMID:8528263 PMID:8968104 PMID:9228064 More... NCBI chr12:31,174,446...31,178,597
Ensembl chr12:31,434,594...31,438,876
JBrowse link
G CDKN1A cyclin dependent kinase inhibitor 1A ISO protein:increased expression:skin RGD PMID:9194578 PMID:22311377 RGD:8662421 RGD:8662817 NCBI chr 6:36,241,405...36,250,032
Ensembl chr 6:37,436,990...37,445,599
JBrowse link
G CDKN1C cyclin dependent kinase inhibitor 1C ISO CTD Direct Evidence: marker/mechanism CTD PMID:17145863 NCBI chr11:2,908,537...2,911,134 JBrowse link
G CDKN2A cyclin dependent kinase inhibitor 2A susceptibility ISO DNA:point mutation, insertion:exon
ClinVar Annotator: match by term: Melanoma
RGD
ClinVar
PMID:7566978 PMID:7647780 PMID:7666917 PMID:7718873 PMID:7881419 More... RGD:1600812 NCBI chr 9:21,803,862...21,831,322 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 chr22:9,757,038...9,811,171 JBrowse link
G CHI3L1 chitinase 3 like 1 severity ISO protein:increased secretion:serum (human) RGD PMID:16456816 RGD:4892643 NCBI chr 1:178,778,081...178,789,704
Ensembl chr 1:183,075,312...183,083,229
JBrowse link
G CLNS1A chloride nucleotide-sensitive channel 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr11:72,680,122...72,701,752
Ensembl chr11:76,321,769...76,343,059
JBrowse link
G CLU clusterin ISO CTD Direct Evidence: therapeutic CTD PMID:15955107 NCBI chr 8:26,867,973...26,884,838
Ensembl chr 8:24,070,053...24,083,523
JBrowse link
G CNNM1 cyclin and CBS domain divalent metal cation transport mediator 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16778180 NCBI chr10:95,942,366...96,009,729
Ensembl chr10:99,436,669...99,500,860
JBrowse link
G COL2A1 collagen type II alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:16778180 NCBI chr12:40,726,137...40,757,690 JBrowse link
G CP ceruloplasmin ISO CTD Direct Evidence: marker/mechanism CTD PMID:23792645 NCBI chr 3:146,180,527...146,239,833
Ensembl chr 3:153,764,830...153,817,544
JBrowse link
G CPT1C carnitine palmitoyltransferase 1C ISO CTD Direct Evidence: marker/mechanism CTD PMID:16778180 NCBI chr19:46,705,711...46,727,996
Ensembl chr19:55,626,831...55,647,394
JBrowse link
G CRYBG1 crystallin beta-gamma domain containing 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22402438 NCBI chr 6:104,175,754...104,385,329
Ensembl chr 6:108,048,568...108,257,222
JBrowse link
G CSF2 colony stimulating factor 2 ISO CTD Direct Evidence: therapeutic CTD PMID:11061616 NCBI chr 5:127,496,951...127,499,325
Ensembl chr 5:133,660,775...133,663,146
JBrowse link
G CSF3 colony stimulating factor 3 ISO CTD Direct Evidence: therapeutic CTD PMID:16120623 PMID:16260693 NCBI chr17:17,271,074...17,273,493
Ensembl chr17:17,491,276...17,493,729
JBrowse link
G CST6 cystatin E/M ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr11:61,375,744...61,377,909
Ensembl chr11:64,703,412...64,704,762
JBrowse link
G CTH cystathionine gamma-lyase ISO CTD Direct Evidence: marker/mechanism CTD PMID:25205294 NCBI chr 1:69,646,608...69,674,301
Ensembl chr 1:71,629,333...71,677,666
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 chr2B:91,054,917...91,106,234
Ensembl chr2B:209,239,417...209,244,498
JBrowse link
G CUBN cubilin ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr10:17,141,464...17,446,867
Ensembl chr10:17,415,551...17,719,129
JBrowse link
G CUL3 cullin 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr2B:111,714,533...111,827,080
Ensembl chr2B:230,289,195...230,378,991
JBrowse link
G CYP1B1 cytochrome P450 family 1 subfamily B member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17145863 NCBI chr2A:38,087,863...38,096,529
Ensembl chr2A:38,851,000...38,859,824
JBrowse link
G DCBLD1 discoidin, CUB and LCCL domain containing 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr 6:115,290,931...115,358,249
Ensembl chr 6:119,434,847...119,519,282
JBrowse link
G DCC DCC netrin 1 receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:22842228 NCBI chr18:45,717,924...46,913,998
Ensembl chr18:49,268,812...50,255,155
JBrowse link
G DDIT4L DNA damage inducible transcript 4 like ISO CTD Direct Evidence: marker/mechanism CTD PMID:16778180 NCBI chr 4:92,606,473...92,615,421
Ensembl chr 4:103,268,048...103,272,666
JBrowse link
G DDR2 discoidin domain receptor tyrosine kinase 2 ameliorates ISO DNA:deletion:exons: RGD PMID:24293323 RGD:150429711 NCBI chr 1:138,048,730...138,200,426
Ensembl chr 1:141,932,158...141,990,766
JBrowse link
G DLG2 discs large MAGUK scaffold protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr11:78,517,601...80,684,319
Ensembl chr11:82,128,746...84,263,241
JBrowse link
G DNAJC1 DnaJ heat shock protein family (Hsp40) member C1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr10:21,920,188...22,166,782
Ensembl chr10:22,297,332...22,542,771
JBrowse link
G DNAJC15 DnaJ heat shock protein family (Hsp40) member C15 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17145863 NCBI chr13:24,193,185...24,276,813 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 chr2A:25,229,593...25,344,733
Ensembl chr2A:25,331,095...25,412,605
JBrowse link
G DRAP1 DR1 associated protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr11:61,279,681...61,281,881
Ensembl chr11:64,608,245...64,610,031
JBrowse link
G DSC1 desmocollin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22197931 NCBI chr18:24,358,116...24,393,604
Ensembl chr18:27,955,717...27,990,818
JBrowse link
G E2F1 E2F transcription factor 1 ISO CTD Direct Evidence: marker/mechanism|therapeutic CTD PMID:15574415 PMID:16827129 NCBI chr20:29,963,083...29,973,860
Ensembl chr20:31,103,764...31,110,604
JBrowse link
G ECHDC1 ethylmalonyl-CoA decarboxylase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr 6:125,079,246...125,134,053
Ensembl chr 6:129,192,752...129,247,667
JBrowse link
G EDA ectodysplasin A ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr  X:58,881,660...59,308,451 JBrowse link
G EHMT2 euchromatic histone lysine methyltransferase 2 disease_progression ISO RGD PMID:24658378 RGD:9590069 NCBI chr 6:31,542,946...31,560,894
Ensembl chr 6:32,429,271...32,451,844
JBrowse link
G EIF1AD eukaryotic translation initiation factor 1A domain containing ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr11:61,356,142...61,366,589
Ensembl chr11:64,689,797...64,693,534
JBrowse link
G ELN elastin disease_progression ISO associated with Nevus, Pigmented; RGD PMID:11979070 PMID:19032378 RGD:9585752 RGD:9585768
G ENG endoglin treatment ISO RGD PMID:23076642 RGD:7248785 NCBI chr 9:98,934,080...98,973,862
Ensembl chr 9:127,605,608...127,644,641
JBrowse link
G EP300 E1A binding protein p300 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23698071 NCBI chr22:21,986,467...22,076,921
Ensembl chr22:40,079,503...40,168,604
JBrowse link
G EPB41 erythrocyte membrane protein band 4.1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17145863 NCBI chr 1:28,158,807...28,390,541
Ensembl chr 1:29,284,923...29,416,474
JBrowse link
G EPHX3 epoxide hydrolase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16778180 NCBI chr19:14,759,671...14,766,596 JBrowse link
G EPO erythropoietin ISO CTD Direct Evidence: marker/mechanism CTD PMID:15743794 NCBI chr 7:92,747,671...92,750,886
Ensembl chr 7:106,148,062...106,150,974
JBrowse link
G EPOR erythropoietin receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:21860424 NCBI chr19:10,925,148...10,931,955
Ensembl chr19:11,635,248...11,642,383
JBrowse link
G ERBB4 erb-b2 receptor tyrosine kinase 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19718025 NCBI chr2B:98,625,630...99,795,371
Ensembl chr2B:217,069,644...218,272,006
JBrowse link
G ERCC1 ERCC excision repair 1, endonuclease non-catalytic subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:21722328 NCBI chr19:42,356,039...42,427,754
Ensembl chr19:50,951,674...50,968,430
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 chr19:42,298,927...42,319,816
Ensembl chr19:50,897,004...50,915,819
JBrowse link
G ERCC5 ERCC excision repair 5, endonuclease disease_progression ISO DNA:polymorphism:exon:p.D1104H(human) RGD PMID:21390047 RGD:12880434 NCBI chr13:84,005,950...84,036,710
Ensembl chr13:103,096,344...103,174,182
JBrowse link
G ESR1 estrogen receptor 1 severity ISO RGD PMID:19153340 RGD:8553064 NCBI chr 6:149,507,599...149,918,523
Ensembl chr 6:154,317,002...154,631,551
JBrowse link
G ESR2 estrogen receptor 2 severity ISO RGD PMID:19153340 RGD:8553064 NCBI chr14:44,807,875...44,919,780
Ensembl chr14:63,064,402...63,131,303
JBrowse link
G F2RL1 F2R like trypsin receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17145863 Ensembl chr 5:39,006,331...39,024,265 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 chr10:85,707,457...85,741,539
Ensembl chr10:89,217,949...89,243,612
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 1:148,159,826...148,167,785
Ensembl chr 1:151,868,430...151,876,281
JBrowse link
G FASN fatty acid synthase ISO CTD Direct Evidence: marker/mechanism CTD PMID:18770866 PMID:20805790 PMID:21213365 NCBI chr17:76,483,108...76,503,148
Ensembl chr17:82,187,516...82,205,647
JBrowse link
G FAT4 FAT atypical cadherin 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22197931 NCBI chr 4:117,494,842...117,674,382
Ensembl chr 4:128,637,516...128,814,407
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 chr15:27,358,780...27,593,539
Ensembl chr15:45,682,450...45,918,111
JBrowse link
G FHIP2A FHF complex subunit HOOK interacting protein 2A ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr10:111,414,626...111,457,701
Ensembl chr10:114,858,836...114,927,836
JBrowse link
G FLT1 fms related receptor tyrosine kinase 1 ISO CTD Direct Evidence: marker/mechanism
protein:increased expression:serum:
CTD
RGD
PMID:19718025 PMID:21730877 RGD:8552360 NCBI chr13:9,584,850...9,779,542 JBrowse link
G FTO FTO alpha-ketoglutarate dependent dioxygenase ISO CTD Direct Evidence: marker/mechanism CTD PMID:23455637 NCBI chr16:33,939,300...34,343,419
Ensembl chr16:53,023,425...53,490,231
JBrowse link
G GAB2 GRB2 associated binding protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr11:73,275,360...73,478,272
Ensembl chr11:76,896,691...76,967,007
JBrowse link
G GDF15 growth differentiation factor 15 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17145863 NCBI chr19:17,864,840...17,867,883
Ensembl chr19:18,835,216...18,838,470
JBrowse link
G GGT1 gamma-glutamyltransferase 1 disease_progression ISO RGD PMID:6120756 RGD:14747014 NCBI chr22:5,424,334...5,469,705 JBrowse link
G GLO1 glyoxalase I ISO CTD Direct Evidence: marker/mechanism CTD PMID:20093988 NCBI chr 6:38,247,881...38,275,098
Ensembl chr 6:39,434,746...39,461,971
JBrowse link
G GNA11 G protein subunit alpha 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23432625 NCBI chr19:2,120,398...2,149,161
Ensembl chr19:3,074,483...3,102,124
JBrowse link
G GOPC golgi associated PDZ and coiled-coil motif containing ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr 6:115,368,682...115,411,140
Ensembl chr 6:119,509,936...119,552,010
JBrowse link
G GPAM glycerol-3-phosphate acyltransferase, mitochondrial ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr10:108,747,370...108,781,270
Ensembl chr10:112,186,744...112,246,549
JBrowse link
G GPER1 G protein-coupled estrogen receptor 1 severity ISO protein:increased expression:skin (human) RGD PMID:28467693 RGD:39939016 NCBI chr 7:1,331,586...1,338,194 JBrowse link
G GPHA2 glycoprotein hormone subunit alpha 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr11:60,284,963...60,294,626
Ensembl chr11:63,631,772...63,632,765
JBrowse link
G GRIN2A glutamate ionotropic receptor NMDA type subunit 2A ISO CTD Direct Evidence: marker/mechanism CTD PMID:21499247 NCBI chr16:8,682,169...9,105,581
Ensembl chr16:9,919,143...10,336,167
JBrowse link
G GRM3 glutamate metabotropic receptor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21946352 PMID:22842228 NCBI chr 7:78,621,634...78,842,532
Ensembl chr 7:92,400,728...92,500,553
JBrowse link
G GSTP1 glutathione S-transferase pi 1 ISO DNA:polymorphism:cds:p.I50V(human) RGD PMID:23568549 RGD:8547833 NCBI chr11:62,942,756...62,945,701
Ensembl chr11:66,253,421...66,256,472
JBrowse link
G HDAC2 histone deacetylase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr 6:111,731,139...111,761,826
Ensembl chr 6:115,802,367...115,833,004
JBrowse link
G HDAC3 histone deacetylase 3 ISO associated with Anaphylaxis; RGD PMID:24619412 RGD:9590165 NCBI chr 5:136,981,790...136,997,786
Ensembl chr 5:143,094,406...143,110,322
JBrowse link
G HDAC6 histone deacetylase 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr  X:41,099,539...41,122,650
Ensembl chr  X:48,960,430...48,982,642
JBrowse link
G HIKESHI heat shock protein nuclear import factor hikeshi ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr11:81,353,756...81,397,167
Ensembl chr11:84,961,298...85,004,740
JBrowse link
G HOXA9 homeobox A9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16778180 NCBI chr 7:27,806,942...27,810,304
Ensembl chr 7:27,405,931...27,409,984
JBrowse link
G HOXB13 homeobox B13 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17145863 NCBI chr17:8,807,988...8,810,362
Ensembl chr17:8,994,224...8,996,598
JBrowse link
G HOXD12 homeobox D12 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16778180 NCBI chr2B:63,379,611...63,382,293
Ensembl chr2B:181,089,181...181,091,055
JBrowse link
G HPSE heparanase ISO CTD Direct Evidence: marker/mechanism CTD PMID:22240343 NCBI chr 4:40,863,491...40,905,693
Ensembl chr 4:46,709,621...46,755,157
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 chr11:537,488...540,810
Ensembl chr11:568,305...571,078
JBrowse link
G HS3ST5 heparan sulfate-glucosamine 3-sulfotransferase 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr 6:111,846,143...112,132,706
Ensembl chr 6:115,917,004...116,089,942
JBrowse link
G HSPA1A heat shock protein family A (Hsp70) member 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:26984758 NCBI chr 6:31,476,710...31,491,411 JBrowse link
G ICAM1 intercellular adhesion molecule 1 disease_progression ISO RGD PMID:8599446 RGD:8547584 NCBI chr19:9,821,402...9,837,021
Ensembl chr19:10,484,414...10,500,605
JBrowse link
G IER2 immediate early response 2 disease_progression ISO mRNA:increased expression:skin (human) RGD PMID:34611309 RGD:153323325 NCBI chr19:12,714,804...12,718,213
Ensembl chr19:13,452,239...13,452,910
JBrowse link
G IFNB1 interferon beta 1 ISO CTD Direct Evidence: therapeutic CTD PMID:16928243 PMID:21846298 NCBI chr 9:20,884,742...20,886,317 JBrowse link
G IFNG interferon gamma ISO CTD Direct Evidence: therapeutic CTD PMID:9794839 NCBI chr12:65,663,764...65,668,732
Ensembl chr12:68,448,861...68,453,829
JBrowse link
G IL17D interleukin 17D severity ISO RGD PMID:31244826 RGD:40903065 NCBI chr13:2,030,234...2,049,965
Ensembl chr13:20,343,537...20,361,535
JBrowse link
G IL1RAPL1 interleukin 1 receptor accessory protein like 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr  X:21,180,693...22,548,122
Ensembl chr  X:28,950,521...30,109,286
JBrowse link
G IL1RN interleukin 1 receptor antagonist ISO mouse model treated with human protein RGD PMID:8168095 RGD:6909140 NCBI chr2A:88,991,646...89,008,013
Ensembl chr2A:114,061,182...114,078,839
JBrowse link
G IL2 interleukin 2 ISO CTD Direct Evidence: therapeutic CTD PMID:12374674 PMID:12439608 PMID:15577323 PMID:15917704 PMID:16131448 More... NCBI chr 4:114,637,328...114,642,586
Ensembl chr 4:125,782,563...125,787,984
JBrowse link
G IL21 interleukin 21 treatment ISO RGD PMID:22477528 RGD:127285553 NCBI chr 4:114,795,979...114,806,936
Ensembl chr 4:125,943,495...125,951,915
JBrowse link
G INCENP inner centromere protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr11:57,488,790...57,519,552
Ensembl chr11:60,846,199...60,874,540
JBrowse link
G IQCH IQ motif containing H ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr15:46,206,780...46,457,549
Ensembl chr15:64,477,650...64,720,706
JBrowse link
G JAKMIP2 janus kinase and microtubule interacting protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22842228 NCBI chr 5:143,035,340...143,231,371
Ensembl chr 5:149,047,467...149,241,040
JBrowse link
G JMJD6 jumonji domain containing 6, arginine demethylase and lysine hydroxylase ISO CTD Direct Evidence: marker/mechanism CTD PMID:30619488 NCBI chr17:70,789,922...70,803,791
Ensembl chr17:76,356,142...76,370,117
JBrowse link
G JUNB JunB proto-oncogene, AP-1 transcription factor subunit treatment ISO human cell line in a mouse model RGD PMID:28976960 RGD:151347671 NCBI chr19:12,353,760...12,355,598
Ensembl chr19:13,097,931...13,098,974
JBrowse link
G KDM1A lysine demethylase 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:29438700 NCBI chr 1:22,205,624...22,269,571
Ensembl chr 1:23,153,066...23,217,692
JBrowse link
G KDM4A lysine demethylase 4A ISO CTD Direct Evidence: marker/mechanism CTD PMID:29438700 NCBI chr 1:42,949,977...43,005,684
Ensembl chr 1:44,325,624...44,380,163
JBrowse link
G KDM4B lysine demethylase 4B ISO CTD Direct Evidence: marker/mechanism CTD PMID:29438700 NCBI chr19:3,986,296...4,172,359
Ensembl chr19:4,977,413...5,116,113
JBrowse link
G KDM4C lysine demethylase 4C ISO CTD Direct Evidence: marker/mechanism CTD PMID:29438700 NCBI chr 9:6,568,569...6,978,741
Ensembl chr 9:6,746,265...7,155,298
JBrowse link
G KDM7A lysine demethylase 7A ISO human gene in a mouse model RGD PMID:22143793 RGD:9587848 NCBI chr 7:132,022,983...132,118,881
Ensembl chr 7:144,510,213...144,561,230
JBrowse link
G KDR kinase insert domain receptor treatment
disease_progression
ISO protein:increased expression:serum:
protein:increased expression, altered expression:skin:
RGD PMID:12415261 PMID:15714119 PMID:21730877 RGD:126925192 RGD:8551851 RGD:8552360 NCBI chr 4:68,813,894...68,861,018
Ensembl chr 4:75,377,375...75,427,109
JBrowse link
G KHDRBS2 KH RNA binding domain containing, signal transduction associated 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21499247 NCBI chr 6:59,161,367...59,954,702
Ensembl chr 6:64,624,694...65,227,850
JBrowse link
G KIF18B kinesin family member 18B ISO CTD Direct Evidence: marker/mechanism CTD PMID:31617652 NCBI chr17:12,374,072...12,398,006
Ensembl chr17:12,558,976...12,569,899
JBrowse link
G KIT KIT proto-oncogene, receptor tyrosine kinase disease_progression ISO ClinVar Annotator: match by term: Malignant melanoma, somatic | ClinVar Annotator: match by term: Melanoma RGD
ClinVar
PMID:7513208 PMID:7530509 PMID:8589724 PMID:9310959 PMID:9438854 More... RGD:12910725 NCBI chr 4:69,199,543...69,282,323
Ensembl chr 4:75,761,946...75,844,473
JBrowse link
G KLRB1 killer cell lectin like receptor B1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17295095 NCBI chr12:9,644,078...9,656,303
Ensembl chr12:9,892,986...9,905,255
JBrowse link
G KLRK1 killer cell lectin like receptor K1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17295095 NCBI chr12:10,411,932...10,429,256
Ensembl chr12:10,662,424...10,699,078
JBrowse link
G LGALS3 galectin 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23994248 NCBI chr14:35,715,850...35,732,263
Ensembl chr14:53,990,023...54,006,412
JBrowse link
G LOC100972354 interferon alpha-2 ISO CTD Direct Evidence: therapeutic CTD PMID:11135225 PMID:12374674 PMID:12393984 PMID:12439608 PMID:12829675 More... NCBI chr 9:21,245,017...21,246,210
Ensembl chr 9:21,863,062...21,863,736
JBrowse link
G LOC100986730 guanine nucleotide-binding protein G(q) subunit alpha ISO ClinVar Annotator: match by term: Melanoma ClinVar PMID:1328859 PMID:2549426 PMID:18719078 PMID:19078957 PMID:21083380 More... NCBI chr 9:46,816,409...47,129,116
Ensembl chr 9:76,575,815...76,773,849
JBrowse link
G LOC103785028 polycomb protein SUZ12 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25119042 NCBI chr17:24,790,921...24,853,790 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 chr2B:17,702,178...19,611,567
Ensembl chr2B:144,382,759...146,221,243
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 chr11:514,227...559,838
Ensembl chr11:575,495...588,750
JBrowse link
G LTA lymphotoxin alpha disease_progression ISO RGD PMID:9182821 RGD:8548801 NCBI chr 6:31,233,411...31,235,409
Ensembl chr 6:32,123,353...32,125,375
JBrowse link
G LXN latexin ISO CTD Direct Evidence: marker/mechanism CTD PMID:17145863 NCBI chr 3:155,692,283...155,698,605
Ensembl chr 3:163,743,319...163,749,614
JBrowse link
G MAGEA1 MAGE family member A1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26640592 NCBI chr  X:142,727,982...142,732,563 JBrowse link
G MAGEC1 MAGE family member C1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22842228 NCBI chr  X:131,056,635...131,062,120 JBrowse link
G MAP2K1 mitogen-activated protein kinase kinase 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Malignant melanoma, somatic
CTD
ClinVar
PMID:7651428 PMID:18632602 PMID:19915144 PMID:22197931 PMID:23569304 More... NCBI chr15:45,337,117...45,438,826
Ensembl chr15:63,613,961...63,714,161
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 chr19:3,114,445...3,148,619
Ensembl chr19:4,064,626...4,097,933
JBrowse link
G MAP3K5 mitogen-activated protein kinase kinase kinase 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22197930 NCBI chr 6:134,316,841...134,582,843
Ensembl chr 6:138,406,398...138,641,727
JBrowse link
G MAP3K9 mitogen-activated protein kinase kinase kinase 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22197930 NCBI chr14:51,310,565...51,396,994
Ensembl chr14:70,188,444...70,266,460
JBrowse link
G MAPK1 mitogen-activated protein kinase 1 treatment ISO RGD PMID:28976960 RGD:151347671 NCBI chr22:3,883,119...3,990,368
Ensembl chr22:20,365,487...20,450,335
JBrowse link
G MAPK14 mitogen-activated protein kinase 14 ameliorates ISO mouse cell line in a mouse model RGD PMID:29907597 RGD:151665504 NCBI chr 6:35,586,847...35,683,041
Ensembl chr 6:36,788,233...36,871,114
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 chr16:70,676,447...70,697,636 JBrowse link
G MDM2 MDM2 proto-oncogene ISO CTD Direct Evidence: marker/mechanism CTD PMID:17210701 NCBI chr12:66,322,340...66,357,010
Ensembl chr12:69,102,084...69,133,278
JBrowse link
G MELTF melanotransferrin ISO CTD Direct Evidence: marker/mechanism CTD PMID:16704991 NCBI chr 3:194,345,474...194,373,690
Ensembl chr 3:204,262,182...204,310,710
JBrowse link
G MET MET proto-oncogene, receptor tyrosine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:29426936 NCBI chr 7:108,646,278...108,772,238
Ensembl chr 7:121,365,438...121,468,159
JBrowse link
G MGMT O-6-methylguanine-DNA methyltransferase ISO protein:increased activity:skin tumor (rat) RGD PMID:20182810 RGD:2316960 NCBI chr10:126,059,701...126,365,850
Ensembl chr10:130,305,485...130,609,422
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 chr 3:69,674,064...69,902,078
Ensembl chr 3:71,037,665...71,265,445
JBrowse link
G MLANA melan-A ISO CTD Direct Evidence: marker/mechanism CTD PMID:26640592 NCBI chr 9:5,711,237...5,729,377
Ensembl chr 9:5,892,923...5,910,956
JBrowse link
G MLLT10 MLLT10 histone lysine methyltransferase DOT1L cofactor ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr10:21,686,507...21,907,247
Ensembl chr10:21,994,975...22,282,737
JBrowse link
G MMP8 matrix metallopeptidase 8 ISO CTD Direct Evidence: therapeutic CTD PMID:19330028 NCBI chr11:97,650,408...97,663,731
Ensembl chr11:101,143,268...101,156,736
JBrowse link
G MPST mercaptopyruvate sulfurtransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:25205294 NCBI chr22:17,933,995...17,944,196
Ensembl chr22:35,770,209...35,780,250
JBrowse link
G MRPL49 mitochondrial ribosomal protein L49 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr11:60,484,645...60,489,718
Ensembl chr11:63,823,018...63,828,127
JBrowse link
G MTAP methylthioadenosine phosphorylase ISO CTD Direct Evidence: marker/mechanism CTD PMID:19578364 NCBI chr 9:21,637,543...21,769,698
Ensembl chr 9:22,266,376...22,382,218
JBrowse link
G MTPAP mitochondrial poly(A) polymerase ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr10:30,463,414...30,500,245
Ensembl chr10:30,818,599...30,854,542
JBrowse link
G MX2 MX dynamin like GTPase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21983787 NCBI chr21:27,696,457...27,744,105
Ensembl chr21:41,032,681...41,071,653
JBrowse link
G MYD88 MYD88 innate immune signal transduction adaptor treatment ISO mouse cell line in a mouse model RGD PMID:20823152 RGD:150520170 NCBI chr 3:38,036,565...38,041,014
Ensembl chr 3:38,319,024...38,323,572
JBrowse link
G MYO7A myosin VIIA ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr11:72,187,024...72,265,931
Ensembl chr11:75,834,185...75,907,752
JBrowse link
G NAF1 nuclear assembly factor 1 ribonucleoprotein ISO DNA:SNP:cds:rs7675988 (human) RGD PMID:25231748 RGD:152995261 NCBI chr 4:155,383,245...155,425,479
Ensembl chr 4:167,157,770...167,214,065
JBrowse link
G NDRG1 N-myc downstream regulated 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15341671 NCBI chr 8:129,891,918...129,952,489
Ensembl chr 8:132,866,245...132,926,514
JBrowse link
G NF1 neurofibromin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25119042 PMID:26214590 NCBI chr17:25,425,081...25,703,689
Ensembl chr17:26,160,855...26,439,295
JBrowse link
G NFKB1 nuclear factor kappa B subunit 1 ISO DNA:insertion(s) RGD PMID:17492467 RGD:2298900 NCBI chr 4:94,925,048...95,040,849
Ensembl chr 4:105,589,062...105,704,098
JBrowse link
G NFKBIA NFKB inhibitor alpha ISO DNA:insertion(s) RGD PMID:17492467 RGD:2298900 NCBI chr14:16,155,331...16,158,588 JBrowse link
G NFKBIE NFKB inhibitor epsilon ISO CTD Direct Evidence: marker/mechanism CTD PMID:26343386 NCBI chr 6:43,853,921...43,861,686
Ensembl chr 6:45,138,209...45,144,680
JBrowse link
G NGFR nerve growth factor receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:30339727 NCBI chr17:8,089,600...8,109,361
Ensembl chr17:8,075,316...8,094,966
JBrowse link
G NPAP1 nuclear pore associated protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22842228 NCBI chr15:5,268,210...5,272,017 JBrowse link
G NPPA natriuretic peptide A ISO CTD Direct Evidence: therapeutic CTD PMID:18004088 NCBI chr 1:10,608,025...10,610,287
Ensembl chr 1:11,825,072...11,827,373
JBrowse link
G NRAS NRAS proto-oncogene, GTPase ISO CTD Direct Evidence: marker/mechanism
associated with Neoplasm Metastasis; DNA:mutation:multiple (human)
CTD
RGD
PMID:22535842 PMID:22842228 PMID:23432625 PMID:25043973 PMID:25393105 More... RGD:151660349 NCBI chr 1:87,837,146...87,850,013
Ensembl chr 1:122,890,505...122,903,585
JBrowse link
G NT5DC1 5'-nucleotidase domain containing 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr 6:113,903,473...114,051,784 JBrowse link
G NUF2 NUF2 component of NDC80 kinetochore complex disease_progression ISO RGD PMID:27237743 RGD:28867234 NCBI chr 1:138,743,251...138,777,201
Ensembl chr 1:142,538,420...142,572,364
JBrowse link
G NUS1 NUS1 dehydrodolichyl diphosphate synthase subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr 6:115,486,422...115,521,317 JBrowse link
G PARP1 poly(ADP-ribose) polymerase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28759004 NCBI chr 1:201,820,355...201,867,673
Ensembl chr 1:206,812,981...206,860,356
JBrowse link
G PAX4 paired box 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18949370 NCBI chr 7:119,605,924...119,613,579
Ensembl chr 7:132,260,859...132,268,516
JBrowse link
G PAX6 paired box 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16778180 NCBI chr11:31,753,190...31,782,225
Ensembl chr11:31,641,813...31,664,474
JBrowse link
G PCDHB8 protocadherin beta 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21499247 NCBI chr 5:136,538,882...136,543,805
Ensembl chr 5:142,654,990...142,657,395
JBrowse link
G PDCD1 programmed cell death 1 treatment ISO CTD Direct Evidence: therapeutic
associated with influenza
CTD
RGD
PMID:21802280 PMID:27760326 RGD:40818261 NCBI chr12:130,849,353...130,858,776 JBrowse link
G PHGDH phosphoglycerate dehydrogenase ISO CTD Direct Evidence: marker/mechanism CTD PMID:21804546 NCBI chr 1:82,803,155...82,835,465
Ensembl chr 1:117,800,843...117,833,462
JBrowse link
G PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha ISO ClinVar Annotator: match by term: Malignant melanoma, somatic | ClinVar Annotator: match by term: Melanoma ClinVar PMID:15016963 PMID:15254419 PMID:15520168 PMID:15608678 PMID:15647370 More... NCBI chr 3:176,182,765...176,272,024
Ensembl chr 3:184,355,785...184,441,977
JBrowse link
G PIP4K2A phosphatidylinositol-5-phosphate 4-kinase type 2 alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr10:22,691,355...22,870,628 JBrowse link
G PKMYT1 protein kinase, membrane associated tyrosine/threonine 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr16:1,914,651...1,946,407
Ensembl chr16:3,082,265...3,094,477
JBrowse link
G PLCB4 phospholipase C beta 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21499247 NCBI chr20:9,042,127...9,454,207
Ensembl chr20:9,192,061...9,456,443
JBrowse link
G PMEL premelanosome protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:26640592 NCBI chr12:32,946,951...32,958,205
Ensembl chr12:33,196,040...33,207,610
JBrowse link
G POMC proopiomelanocortin ISO CTD Direct Evidence: therapeutic CTD PMID:24412703 NCBI chr2A:25,161,668...25,165,600
Ensembl chr2A:25,258,768...25,262,706
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 chr 7:116,807,913...116,926,998
Ensembl chr 7:129,487,571...129,605,558
JBrowse link
G PPARD peroxisome proliferator activated receptor delta ISO CTD Direct Evidence: therapeutic CTD PMID:28962521 NCBI chr 6:34,903,798...34,987,208
Ensembl chr 6:36,003,988...36,081,132
JBrowse link
G PPARG peroxisome proliferator activated receptor gamma ISO CTD Direct Evidence: marker/mechanism|therapeutic CTD PMID:14512786 PMID:28962521 NCBI chr 3:12,215,322...12,361,669
Ensembl chr 3:12,622,397...12,705,060
JBrowse link
G PPARGC1A PPARG coactivator 1 alpha severity ISO mRNA:increased expression:tumor (human) RGD PMID:23416000 RGD:7241823 NCBI chr 4:18,196,431...18,876,889
Ensembl chr 4:23,483,377...23,581,212
JBrowse link
G PPP1R14B protein phosphatase 1 regulatory inhibitor subunit 14B ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr11:59,601,594...59,604,050 JBrowse link
G PPP6C protein phosphatase 6 catalytic subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:22842228 NCBI chr 9:96,267,918...96,311,159
Ensembl chr 9:124,783,173...124,825,877
JBrowse link
G PRDX2 peroxiredoxin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16778180 NCBI chr19:12,359,084...12,363,552
Ensembl chr19:13,103,422...13,107,369
JBrowse link
G PRSS23 serine protease 23 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr11:81,855,594...81,866,321 JBrowse link
G PTEN phosphatase and tensin homolog ISO ClinVar Annotator: match by term: MELANOMA, MALIGNANT | ClinVar Annotator: match by term: Melanoma ClinVar PMID:1097835 PMID:9467011 PMID:10978354 PMID:11476841 PMID:16007494 More... NCBI chr10:84,587,841...84,689,043
Ensembl chr10:88,093,539...88,194,605
JBrowse link
G PTER phosphotriesterase related ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr10:16,754,485...16,830,379
Ensembl chr10:17,029,057...17,105,594
JBrowse link
G PTGS2 prostaglandin-endoperoxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17145863 PMID:17499752 PMID:18454317 NCBI chr 1:162,205,534...162,214,130
Ensembl chr 1:166,355,845...166,364,519
JBrowse link
G PTK2B protein tyrosine kinase 2 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:19718025 NCBI chr 8:26,580,855...26,729,378
Ensembl chr 8:23,869,825...23,932,474
JBrowse link
G PTPRK protein tyrosine phosphatase receptor type K ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 PMID:22842228 NCBI chr 6:125,753,656...126,312,124
Ensembl chr 6:129,864,573...130,421,644
JBrowse link
G PTPRO protein tyrosine phosphatase receptor type O ISO CTD Direct Evidence: marker/mechanism CTD PMID:21499247 NCBI chr12:15,329,314...15,594,787
Ensembl chr12:15,725,917...15,990,532
JBrowse link
G QPCT glutaminyl-peptide cyclotransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:17145863 NCBI chr2A:37,371,848...37,400,820
Ensembl chr2A:38,136,532...38,165,254
JBrowse link
G RAC1 Rac family small GTPase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22842228 NCBI chr 7:7,039,379...7,068,866 JBrowse link
G RAC2 Rac family small GTPase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17145863 NCBI chr22:18,138,517...18,159,023
Ensembl chr22:35,973,229...35,992,026
JBrowse link
G RAI1 retinoic acid induced 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr17:33,484,543...33,614,608
Ensembl chr17:38,431,946...38,461,861
JBrowse link
G RAP1GAP RAP1 GTPase activating protein ISO protein:decreased expression:epidermal melanocyte (human)
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:19147557 PMID:22614916 RGD:9835344 NCBI chr 1:20,790,076...20,860,511
Ensembl chr 1:21,754,733...21,824,405
JBrowse link
G RASA2 RAS p21 protein activator 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26214590 PMID:26502337 NCBI chr 3:138,520,013...138,648,798
Ensembl chr 3:146,108,019...146,245,637
JBrowse link
G RAX retina and anterior neural fold homeobox ISO CTD Direct Evidence: marker/mechanism CTD PMID:16778180 NCBI chr18:52,664,243...52,669,177
Ensembl chr18:55,990,984...55,995,469
JBrowse link
G REC8 REC8 meiotic recombination protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:16778180 NCBI chr14:4,948,100...4,956,492
Ensembl chr14:23,071,724...23,079,948
JBrowse link
G RFX6 regulatory factor X6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr 6:114,686,132...114,741,072
Ensembl chr 6:118,828,973...118,883,884
JBrowse link
G RHOB ras homolog family member B ISO RGD PMID:12606940 RGD:704376 NCBI chr2A:20,433,576...20,435,986
Ensembl chr2A:20,549,254...20,549,844
JBrowse link
G RIN1 Ras and Rab interactor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr11:61,697,751...61,702,501
Ensembl chr11:65,023,138...65,027,605
JBrowse link
G RNASET2 ribonuclease T2 ISO human cells in mouse model RGD PMID:27014725 RGD:153002831 NCBI chr 6:164,895,396...164,923,008
Ensembl chr 6:169,872,780...169,899,599
JBrowse link
G ROS1 ROS proto-oncogene 1, receptor tyrosine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr 6:115,095,753...115,234,525
Ensembl chr 6:119,238,419...119,376,053
JBrowse link
G RPP38 ribonuclease P/MRP subunit p38 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr10:15,413,026...15,420,170
Ensembl chr10:15,700,027...15,703,046
JBrowse link
G RPS3 ribosomal protein S3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr11:70,460,702...70,466,909
Ensembl chr11:73,762,794...73,768,982
JBrowse link
G RTEL1 regulator of telomere elongation helicase 1 ISO DNA:SNP:cds:rs75691080 (human) RGD PMID:25231748 RGD:152995261 Ensembl chr20:61,581,331...61,618,718 JBrowse link
G S100A4 S100 calcium binding protein A4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29179997 NCBI chr 1:128,898,765...128,901,042
Ensembl chr 1:132,527,846...132,530,122
JBrowse link
G SAC3D1 SAC3 domain containing 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr11:60,397,122...60,401,157 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 chr 1:126,275,719...126,314,043
Ensembl chr 1:129,925,009...129,962,442
JBrowse link
G SF1 splicing factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr11:60,120,126...60,134,279
Ensembl chr11:63,461,318...63,473,355
JBrowse link
G SIPA1 signal-induced proliferation-associated 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr11:60,997,292...61,010,155
Ensembl chr11:64,335,136...64,344,955
JBrowse link
G SLC15A2 solute carrier family 15 member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22842228 NCBI chr 3:118,996,023...119,044,423
Ensembl chr 3:125,902,978...125,951,963
JBrowse link
G SLC17A5 solute carrier family 17 member 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21499247 NCBI chr 6:71,404,354...71,477,511
Ensembl chr 6:74,702,447...74,760,557
JBrowse link
G SLC25A45 solute carrier family 25 member 45 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr11:60,736,975...60,747,380
Ensembl chr11:64,075,675...64,082,750
JBrowse link
G SLC35G2 solute carrier family 35 member G2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16778180 NCBI chr 3:133,861,781...133,897,920
Ensembl chr 3:141,354,685...141,355,923
JBrowse link
G SLC39A12 solute carrier family 39 member 12 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr10:18,270,652...18,362,558
Ensembl chr10:18,541,859...18,698,851
JBrowse link
G SLC45A2 solute carrier family 45 member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18563784 PMID:21559390 NCBI chr 5:76,357,549...76,398,571
Ensembl chr 5:81,743,254...81,784,565
JBrowse link
G SLC5A5 solute carrier family 5 member 5 ISO CTD Direct Evidence: therapeutic CTD PMID:12489024 NCBI chr19:17,352,635...17,377,130
Ensembl chr19:18,327,410...18,344,480
JBrowse link
G SLC6A11 solute carrier family 6 member 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21499247 NCBI chr 3:10,753,412...10,878,333
Ensembl chr 3:11,101,336...11,222,948
JBrowse link
G SOCS1 suppressor of cytokine signaling 1 ameliorates ISO RGD PMID:19469017 RGD:150573701 NCBI chr16:10,196,432...10,198,205 JBrowse link
G SOD2 superoxide dismutase 2 ISO protein:increased expression:serum: RGD PMID:8541726 RGD:8547533 NCBI chr 6:157,562,814...157,610,155
Ensembl chr 6:162,576,082...162,589,960
JBrowse link
G SOX2 SRY-box transcription factor 2 disease_progression ISO RGD PMID:21410764 RGD:8661664 NCBI chr 3:178,744,881...178,747,392
Ensembl chr 3:186,922,705...186,923,662
JBrowse link
G SPP1 secreted phosphoprotein 1 ISO RGD PMID:15757900 RGD:1581337 NCBI chr 4:80,263,711...80,271,466
Ensembl chr 4:90,988,200...90,995,935
JBrowse link
G STIP1 stress induced phosphoprotein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr11:59,542,760...59,560,758
Ensembl chr11:62,889,052...62,906,902
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... Ensembl chr19:1,188,537...1,210,677 JBrowse link
G STN1 STN1 subunit of CST complex ISO DNA:SNP:cds:rs9420907|rs2995264 (human) RGD PMID:25231748 RGD:152995261 NCBI chr10:100,456,589...100,518,010
Ensembl chr10:103,942,422...103,977,847
JBrowse link
G STX17 syntaxin 17 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18641652 NCBI chr 9:70,989,913...71,058,374
Ensembl chr 9:99,107,243...99,168,801
JBrowse link
G SYK spleen associated tyrosine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:17145863 NCBI chr 9:61,859,767...61,956,619
Ensembl chr 9:89,959,599...90,056,101
JBrowse link
G SYT4 synaptotagmin 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21499247 NCBI chr18:36,540,756...36,550,439
Ensembl chr18:40,089,938...40,099,721
JBrowse link
G TAS2R60 taste 2 receptor member 60 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21499247 NCBI chr 7:135,438,216...135,439,172
Ensembl chr 7:147,927,710...147,928,666
JBrowse link
G TERT telomerase reverse transcriptase ISO DNA:SNP:cds:rs455433|rs2736100 (human)
CTD Direct Evidence: therapeutic
mRNA:increased expression:plasma
RGD
CTD
PMID:14654933 PMID:20856939 PMID:25231748 RGD:152995261 RGD:2291969 Ensembl chr 5:1,300,960...1,338,872 JBrowse link
G TFPI2 tissue factor pathway inhibitor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17372906 NCBI chr 7:85,835,141...85,839,515
Ensembl chr 7:99,426,006...99,431,099
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 chr 9:88,827,495...88,840,458
Ensembl chr 9:117,180,550...117,190,711
JBrowse link
G TMEM132B transmembrane protein 132B ISO CTD Direct Evidence: marker/mechanism CTD PMID:21499247 NCBI chr12:122,783,140...123,248,488
Ensembl chr12:127,203,188...127,523,208
JBrowse link
G TMEM30B transmembrane protein 30B ISO CTD Direct Evidence: marker/mechanism CTD PMID:16778180 NCBI chr14:41,880,759...41,882,090
Ensembl chr14:60,138,410...60,139,780
JBrowse link
G TNC tenascin C ISO CTD Direct Evidence: marker/mechanism CTD PMID:22842228 NCBI chr 9:86,125,672...86,222,804
Ensembl chr 9:114,486,778...114,584,299
JBrowse link
G TNF tumor necrosis factor ISO CTD Direct Evidence: therapeutic CTD PMID:9794839 PMID:9843018 PMID:10379864 PMID:18388930 NCBI chr 6:31,236,650...31,239,423
Ensembl chr 6:32,126,618...32,129,381
JBrowse link
G TNFRSF19 TNF receptor superfamily member 19 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17187358 NCBI chr13:4,880,340...4,986,160
Ensembl chr13:23,174,613...23,280,316
JBrowse link
G TP53 tumor protein p53 ISO ClinVar Annotator: match by term: Malignant melanoma, somatic
ClinVar Annotator: match by term: Malignant Melanoma Susceptibility | ClinVar Annotator: match by term: Malignant melanoma, somatic | ClinVar Annotator: match by term: Melanoma
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 PMID:253702 PMID:1349175 PMID:1359493 PMID:1565143 PMID:1565144 More... NCBI chr17:7,699,449...7,717,812
Ensembl chr17:7,684,922...7,706,120
JBrowse link
G TRRAP transformation/transcription domain associated protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:21499247 NCBI chr 7:90,845,518...90,981,700
Ensembl chr 7:104,351,320...104,486,722
JBrowse link
G TSPYL4 TSPY like 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr 6:114,052,540...114,056,709
Ensembl chr 6:118,201,097...118,202,341
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 chr11:84,188,557...84,306,686
Ensembl chr11:87,769,606...87,888,138
JBrowse link
G TYRP1 tyrosinase related protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26640592 NCBI chr 9:12,502,610...12,550,203
Ensembl chr 9:12,950,831...12,996,799
JBrowse link
G UGT2B10 UDP glucuronosyltransferase family 2 member B10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21499247 NCBI chr 4:55,268,202...55,283,297 JBrowse link
G USP6NL USP6 N-terminal like ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr10:11,470,413...11,542,608
Ensembl chr10:11,453,137...11,590,863
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 chr12:40,828,413...40,891,700
Ensembl chr12:41,702,742...41,766,192
JBrowse link
G VEGFA vascular endothelial growth factor A disease_progression ISO RGD PMID:12946796 RGD:7421569 NCBI chr 6:43,361,053...43,377,366
Ensembl chr 6:44,650,365...44,666,353
JBrowse link
G VEGFC vascular endothelial growth factor C ISO CTD Direct Evidence: marker/mechanism CTD PMID:17562445 NCBI chr 4:168,870,941...168,999,160
Ensembl chr 4:181,104,737...181,236,030
JBrowse link
G VGLL2 vestigial like family member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr 6:115,073,919...115,082,212
Ensembl chr 6:119,215,683...119,223,541
JBrowse link
G WDR74 WD repeat domain 74 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr11:58,188,230...58,195,538
Ensembl chr11:61,542,300...61,549,426
JBrowse link
G WFDC1 WAP four-disulfide core domain 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17145863 NCBI chr16:64,958,920...64,994,314
Ensembl chr16:84,301,168...84,333,432
JBrowse link
G XRCC3 X-ray repair cross complementing 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11059748 NCBI chr14:84,323,644...84,341,763
Ensembl chr14:104,131,903...104,149,037
JBrowse link
G ZNF438 zinc finger protein 438 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr10:30,976,767...31,163,679
Ensembl chr10:31,329,887...31,339,111
JBrowse link
G ZNF831 zinc finger protein 831 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21499247 NCBI chr20:55,498,545...55,611,830
Ensembl chr20:56,859,452...56,971,937
JBrowse link
amelanotic melanoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IFNB1 interferon beta 1 ISO CTD Direct Evidence: therapeutic CTD PMID:15990972 NCBI chr 9:20,884,742...20,886,317 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 chr20:24,946,629...25,001,311
Ensembl chr20:25,293,511...25,349,017
JBrowse link
G ACSS2 acyl-CoA synthetase short chain family member 2 treatment ISO RGD PMID:27539851 RGD:13831304 NCBI chr20:31,205,104...31,256,263
Ensembl chr20:32,329,721...32,380,526
JBrowse link
G ANTXR1 ANTXR cell adhesion molecule 1 treatment ISO RGD PMID:19609240 PMID:19622764 RGD:9684925 RGD:9684939 NCBI chr2A:69,054,253...69,290,554
Ensembl chr2A:70,175,982...70,412,454
JBrowse link
G BRAF B-Raf proto-oncogene, serine/threonine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:29179997 PMID:29438700 NCBI chr 7:132,651,908...132,855,422
Ensembl chr 7:145,138,510...145,327,115
JBrowse link
G CALR calreticulin ISO CTD Direct Evidence: therapeutic CTD PMID:16388313 NCBI chr19:12,501,013...12,506,909
Ensembl chr19:13,242,900...13,249,416
JBrowse link
G CCL20 C-C motif chemokine ligand 20 treatment ISO RGD PMID:14500387 RGD:7483600 NCBI chr2B:115,052,768...115,056,479
Ensembl chr2B:233,862,505...233,866,225
JBrowse link
G CTLA4 cytotoxic T-lymphocyte associated protein 4 treatment ISO RGD PMID:24041689 RGD:7411680 NCBI chr2B:91,054,917...91,106,234
Ensembl chr2B:209,239,417...209,244,498
JBrowse link
G EGR1 early growth response 1 ISO mRNA, protein:increased expression:salivary gland (mouse) RGD PMID:19517020 RGD:5131885 NCBI chr 5:133,845,305...133,849,291
Ensembl chr 5:139,975,635...139,979,260
JBrowse link
G ESR2 estrogen receptor 2 severity ISO RGD PMID:20354658 RGD:8694122 NCBI chr14:44,807,875...44,919,780
Ensembl chr14:63,064,402...63,131,303
JBrowse link
G HGF hepatocyte growth factor ISO RGD PMID:9823327 RGD:8548620 NCBI chr 7:73,667,618...73,738,960
Ensembl chr 7:87,327,798...87,397,811
JBrowse link
G IFNB1 interferon beta 1 ISO CTD Direct Evidence: therapeutic CTD PMID:16417267 NCBI chr 9:20,884,742...20,886,317 JBrowse link
G IKBKB inhibitor of nuclear factor kappa B kinase subunit beta ISO RGD PMID:19276165 RGD:7495758 NCBI chr 8:41,515,613...41,576,229
Ensembl chr 8:38,960,594...39,020,971
JBrowse link
G IL18 interleukin 18 treatment ISO RGD PMID:12230493 PMID:17411412 RGD:8655870 RGD:8655901 NCBI chr11:107,024,376...107,045,194
Ensembl chr11:110,867,586...110,888,371
JBrowse link
G IL1A interleukin 1 alpha treatment ISO RGD PMID:8061895 RGD:7794735 NCBI chr2A:89,273,482...89,284,421
Ensembl chr2A:113,784,854...113,795,801
JBrowse link
G IL1B interleukin 1 beta ISO RGD PMID:1966551 RGD:7401226 NCBI chr2A:89,216,313...89,223,358
Ensembl chr2A:113,846,306...113,853,424
JBrowse link
G IL2 interleukin 2 ISO RGD PMID:11884028 RGD:8662950 NCBI chr 4:114,637,328...114,642,586
Ensembl chr 4:125,782,563...125,787,984
JBrowse link
G KDM1A lysine demethylase 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:29438700 NCBI chr 1:22,205,624...22,269,571
Ensembl chr 1:23,153,066...23,217,692
JBrowse link
G KDM4C lysine demethylase 4C ISO CTD Direct Evidence: marker/mechanism CTD PMID:29438700 NCBI chr 9:6,568,569...6,978,741
Ensembl chr 9:6,746,265...7,155,298
JBrowse link
G MC1R melanocortin 1 receptor ISO RGD PMID:20126537 RGD:5687319 NCBI chr16:70,676,447...70,697,636 JBrowse link
G PDCD1 programmed cell death 1 treatment ISO RGD PMID:19208793 RGD:9589070 NCBI chr12:130,849,353...130,858,776 JBrowse link
G PTEN phosphatase and tensin homolog ISO CTD Direct Evidence: marker/mechanism CTD PMID:29179997 NCBI chr10:84,587,841...84,689,043
Ensembl chr10:88,093,539...88,194,605
JBrowse link
G PXN paxillin ISO CTD Direct Evidence: marker/mechanism CTD PMID:18492274 NCBI chr12:117,785,614...117,840,816
Ensembl chr12:121,160,295...121,176,667
JBrowse link
G TERT telomerase reverse transcriptase treatment ISO RGD PMID:19903903 RGD:11038656 Ensembl chr 5:1,300,960...1,338,872 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 chr12:31,187,821...31,201,594 JBrowse link
G ARHGAP9 Rho GTPase activating protein 9 ISO ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:28492532 NCBI chr12:31,445,732...31,453,763
Ensembl chr12:31,693,309...31,710,064
JBrowse link
G ARHGEF25 Rho guanine nucleotide exchange factor 25 ISO ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:28492532 NCBI chr12:31,309,527...31,316,648
Ensembl chr12:31,569,173...31,575,971
JBrowse link
G B4GALNT1 beta-1,4-N-acetyl-galactosaminyltransferase 1 ISO ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:28492532 NCBI chr12:31,293,531...31,303,341
Ensembl chr12:31,553,671...31,562,988
JBrowse link
G BAP1 BRCA1 associated deubiquitinase 1 ISO ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:21874000 PMID:23684012 PMID:25741868 PMID:28492532 NCBI chr 3:52,344,067...52,352,187
Ensembl chr 3:53,573,785...53,581,943
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: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 1 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10
ClinVar
OMIM
PMID:2500657 PMID:16439621 PMID:16474404 PMID:17366577 PMID:17551924 More... NCBI chr 7:132,651,908...132,855,422
Ensembl chr 7:145,138,510...145,327,115
JBrowse link
G CDK4 cyclin dependent kinase 4 ISO ClinVar Annotator: match by term: Cutaneous Malignant Melanoma, Dominant | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 1 | 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 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 chr12:31,174,446...31,178,597
Ensembl chr12:31,434,594...31,438,876
JBrowse link
G CDKN2A cyclin dependent kinase inhibitor 2A 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, 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 6 | 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: 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: Cutaneous malignant melanoma 9 | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Hereditary cutaneous melanoma | ClinVar Annotator: match by term: MELANOMA AND RENAL CELL CARCINOMA, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 1 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 2 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 9
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: 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: Cutaneous Malignant Melanoma, Dominant | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Hereditary cutaneous melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 2
ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Hereditary cutaneous melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 2 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5
ClinVar Annotator: match by term: Cutaneous malignant melanoma 5 | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Hereditary cutaneous melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 2 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5
ClinVar Annotator: match by term: Cutaneous Malignant Melanoma, Dominant | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Hereditary cutaneous melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 2 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5
OMIM
ClinVar
PMID:539244 PMID:649266 PMID:865368 PMID:1038976 PMID:2319082 More... NCBI chr 9:21,803,862...21,831,322 JBrowse link
G CDKN2B cyclin dependent kinase inhibitor 2B ISO ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:9622062 PMID:28492532 NCBI chr 9:21,838,902...21,845,355
Ensembl chr 9:22,455,662...22,462,156
JBrowse link
G CYP27B1 cytochrome P450 family 27 subfamily B member 1 ISO ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:28492532 NCBI chr12:31,158,814...31,164,462
Ensembl chr12:31,419,773...31,424,822
JBrowse link
G DCTN2 dynactin subunit 2 ISO ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:28492532 NCBI chr12:31,379,531...31,396,570
Ensembl chr12:31,636,884...31,655,458
JBrowse link
G DDIT3 DNA damage inducible transcript 3 ISO ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:28492532 NCBI chr12:31,406,332...31,410,293
Ensembl chr12:31,664,743...31,668,701
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 chr 3:52,233,271...52,342,627
Ensembl chr 3:53,491,822...53,572,393
JBrowse link
G DTX3 deltex E3 ubiquitin ligase 3 ISO ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:28492532 NCBI chr12:31,316,968...31,322,340
Ensembl chr12:31,577,001...31,579,669
JBrowse link
G EEF1AKMT3 EEF1A lysine methyltransferase 3 ISO ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:28492532 Ensembl chr12:31,404,783...31,415,595 JBrowse link
G FANCA FA complementation group A ISO ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 ClinVar PMID:28492532 NCBI chr16:70,495,310...70,579,275
Ensembl chr16:90,163,950...90,245,147
JBrowse link
G GLI1 GLI family zinc finger 1 ISO ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:28492532 NCBI chr12:31,453,759...31,466,194
Ensembl chr12:31,710,057...31,722,473
JBrowse link
G INHBC inhibin subunit beta C ISO ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:28492532 NCBI chr12:31,473,809...31,494,746
Ensembl chr12:31,732,208...31,747,391
JBrowse link
G INHBE inhibin subunit beta E ISO ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:28492532 NCBI chr12:31,467,974...31,470,700
Ensembl chr12:31,724,252...31,726,978
JBrowse link
G KIF5A kinesin family member 5A ISO ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:28492532 NCBI chr12:31,340,201...31,376,849
Ensembl chr12:31,599,376...31,635,327
JBrowse link
G KLC1 kinesin light chain 1 ISO ClinVar Annotator: match by term: Cutaneous malignant melanoma 6 ClinVar PMID:11059748 PMID:28492532 NCBI chr14:84,255,959...84,326,767
Ensembl chr14:104,065,775...104,135,818
JBrowse link
G LRP1 LDL receptor related protein 1 ISO ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:28492532 NCBI chr12:31,713,938...31,799,287
Ensembl chr12:31,966,149...32,051,979
JBrowse link
G MARCHF9 membrane associated ring-CH-type finger 9 ISO ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:28492532 NCBI chr12:31,167,057...31,174,930 JBrowse link
G MARS1 methionyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:28492532 NCBI chr12:31,410,231...31,438,015
Ensembl chr12:31,668,708...31,693,839
JBrowse link
G MBD6 methyl-CpG binding domain protein 6 ISO ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:28492532 NCBI chr12:31,396,733...31,404,126
Ensembl chr12:31,655,461...31,664,638
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, 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 chr16:70,676,447...70,697,636 JBrowse link
G METTL1 methyltransferase 1, tRNA methylguanosine ISO ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:28492532 NCBI chr12:31,154,374...31,158,175
Ensembl chr12:31,414,941...31,418,588
JBrowse link
G MITF melanocyte inducing transcription factor susceptibility ISO ClinVar Annotator: match by term: MELANOMA AND RENAL CELL CARCINOMA, SUSCEPTIBILITY TO
ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: MELANOMA AND RENAL CELL CARCINOMA, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 8
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, 8
ClinVar Annotator: match by term: MELANOMA AND RENAL CELL CARCINOMA, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 8
ClinVar
OMIM
PMID:2440678 PMID:8589691 PMID:8659547 PMID:9536098 PMID:10587587 More... NCBI chr 3:69,674,064...69,902,078
Ensembl chr 3:71,037,665...71,265,445
JBrowse link
G NDUFA4L2 NDUFA4 mitochondrial complex associated like 2 ISO ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:28492532 NCBI chr12:31,686,325...31,692,483
Ensembl chr12:31,940,681...31,944,813
JBrowse link
G NXPH4 neurexophilin 4 ISO ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 ClinVar PMID:28492532 NCBI chr12:31,700,935...31,710,526
Ensembl chr12:31,953,259...31,962,757
JBrowse link
G OS9 OS9 endoplasmic reticulum lectin ISO ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:28492532 NCBI chr12:31,205,239...31,232,769
Ensembl chr12:31,463,716...31,493,076
JBrowse link
G PIP4K2C phosphatidylinositol-5-phosphate 4-kinase type 2 gamma ISO ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 ClinVar PMID:28492532 NCBI chr12:31,323,346...31,335,626
Ensembl chr12:31,584,534...31,594,808
JBrowse link
G POT1 protection of telomeres 1 ISO ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5
ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: MELANOMA AND RENAL CELL CARCINOMA, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 9 | 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, 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, 1 | 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: 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, 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: Melanoma, cutaneous malignant, susceptibility to, 9
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: Melanoma, cutaneous malignant, susceptibility to, 8
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, 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: Melanoma, cutaneous malignant, susceptibility to, 8
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 chr 7:116,807,913...116,926,998
Ensembl chr 7:129,487,571...129,605,558
JBrowse link
G PTEN phosphatase and tensin homolog ISO ClinVar Annotator: match by term: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 1 ClinVar PMID:24033266 PMID:24055113 PMID:25741868 PMID:25980754 PMID:28492532 More... NCBI chr10:84,587,841...84,689,043
Ensembl chr10:88,093,539...88,194,605
JBrowse link
G R3HDM2 R3H domain containing 2 ISO ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:28492532 NCBI chr12:31,494,789...31,672,343
Ensembl chr12:31,868,368...31,923,910
JBrowse link
G SHMT2 serine hydroxymethyltransferase 2 ISO ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:28492532 NCBI chr12:31,692,451...31,697,727
Ensembl chr12:31,944,785...31,950,138
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 chr16:70,580,030...70,634,143
Ensembl chr16:90,273,160...90,299,061
JBrowse link
G STAC3 SH3 and cysteine rich domain 3 ISO ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:28492532 NCBI chr12:31,674,537...31,683,917
Ensembl chr12:31,928,955...31,936,251
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: 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, 3
ClinVar
OMIM
PMID:9536098 PMID:9887330 PMID:10201537 PMID:10208439 PMID:10676634 More... Ensembl chr19:1,188,537...1,210,677 JBrowse link
G TCF25 TCF25 ribosome quality control complex subunit ISO ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 ClinVar PMID:28492532 NCBI chr16:70,636,413...70,675,841
Ensembl chr16:90,298,175...90,340,048
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: Cutaneous malignant melanoma 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:15814878 PMID:19561322 PMID:20301779 PMID:20871597 PMID:21436073 More... Ensembl chr 5:1,300,960...1,338,872 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 chr17:7,699,449...7,717,812
Ensembl chr17:7,684,922...7,706,120
JBrowse link
G TSFM Ts translation elongation factor, mitochondrial ISO ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:28492532 NCBI chr12:31,123,500...31,154,310
Ensembl chr12:31,404,783...31,415,595
Ensembl chr12:31,404,783...31,415,595
JBrowse link
G TSPAN31 tetraspanin 31 ISO ClinVar Annotator: match by term: Cutaneous Malignant Melanoma, Dominant | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5
ClinVar Annotator: match by term: Cutaneous Malignant Melanoma, Dominant | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: MELANOMA 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: 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 chr12:31,178,439...31,188,737
Ensembl chr12:31,438,856...31,442,267
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 chr11:84,188,557...84,306,686
Ensembl chr11:87,769,606...87,888,138
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:28492532 NCBI chr14:84,323,644...84,341,763
Ensembl chr14:104,131,903...104,149,037
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 chr 9:21,803,862...21,831,322 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 chr 9:21,803,862...21,831,322 JBrowse link
ocular melanoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BAP1 BRCA1 associated deubiquitinase 1 ISO ClinVar Annotator: match by term: Intraocular melanoma ClinVar PMID:25741868 NCBI chr 3:52,344,067...52,352,187
Ensembl chr 3:53,573,785...53,581,943
JBrowse link
G TMEM127 transmembrane protein 127 ISO ClinVar Annotator: match by term: Intraocular melanoma ClinVar PMID:25741868 PMID:28492532 NCBI chr2A:103,049,655...103,065,116
Ensembl chr2A:97,174,322...97,189,171
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 chr 5:128,292,700...128,374,511
Ensembl chr 5:134,457,398...134,532,625
JBrowse link
G AGT angiotensinogen ISO protein:increased expression:serum RGD PMID:19394758 RGD:8548874 NCBI chr 1:206,252,141...206,263,830
Ensembl chr 1:211,279,015...211,291,044
JBrowse link
G ARHGAP44 Rho GTPase activating protein 44 severity ISO DNA:SNP:intron: (rs72635537) (human) RGD PMID:28510328 RGD:401901274 NCBI chr17:38,657,824...38,859,591
Ensembl chr17:43,357,438...43,453,457
JBrowse link
G BAP1 BRCA1 associated deubiquitinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25231345 PMID:26719535 NCBI chr 3:52,344,067...52,352,187
Ensembl chr 3:53,573,785...53,581,943
JBrowse link
G BIRC2 baculoviral IAP repeat containing 2 exacerbates ISO mRNA:increased expression:zone of skin (human) RGD PMID:31964418 RGD:153344516 NCBI chr11:97,298,736...97,324,966
Ensembl chr11:100,793,036...100,822,421
JBrowse link
G BRAF B-Raf proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: Cutaneous melanoma | ClinVar Annotator: match by term: DYSPLASTIC NEVUS SYNDROME, HEREDITARY | ClinVar Annotator: match by term: Malignant melanoma of skin ClinVar PMID:2493360 PMID:2500657 PMID:12068308 PMID:12198537 PMID:12447372 More... NCBI chr 7:132,651,908...132,855,422
Ensembl chr 7:145,138,510...145,327,115
JBrowse link
G BRCA2 BRCA2 DNA repair associated disease_progression ISO DNA:SNP: :rs206118, rs3752447, rs10492396 (human) RGD PMID:25243787 RGD:11344896 NCBI chr13:13,574,422...13,658,967
Ensembl chr13:32,010,066...32,091,332
JBrowse link
G CCL2 C-C motif chemokine ligand 2 disease_progression ISO DNA:SNP: :2578A>G (human) RGD PMID:17169533 RGD:9491398 NCBI chr17:22,528,154...22,530,091
Ensembl chr17:22,820,890...22,823,384
JBrowse link
G CD40 CD40 molecule disease_progression ISO RGD PMID:8952530 RGD:8547772 NCBI chr20:42,455,711...42,467,139
Ensembl chr20:43,541,619...43,552,994
JBrowse link
G CDK4 cyclin dependent kinase 4 ISO ClinVar Annotator: match by term: Cutaneous melanoma | ClinVar Annotator: match by term: Malignant melanoma of skin ClinVar PMID:5377176 PMID:7652577 PMID:8528263 PMID:8968104 PMID:9228064 More... NCBI chr12:31,174,446...31,178,597
Ensembl chr12:31,434,594...31,438,876
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 chr 9:21,803,862...21,831,322 JBrowse link
G CHAF1B chromatin assembly factor 1 subunit B severity ISO protein:increased expression:skin: RGD PMID:20178651 RGD:9587476 NCBI chr21:22,755,721...22,786,958
Ensembl chr21:36,113,971...36,143,575
JBrowse link
G CNR1 cannabinoid receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28131817 NCBI chr 6:86,017,141...86,044,889 JBrowse link
G CREB1 cAMP responsive element binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29179997 NCBI chr2B:94,762,796...94,836,304
Ensembl chr2B:212,891,261...212,958,130
JBrowse link
G CTCF CCCTC-binding factor ISO DNA:mutations:multiple (human) RGD PMID:27974201 RGD:151356739 NCBI chr16:47,906,503...47,983,271
Ensembl chr16:67,302,952...67,372,041
JBrowse link
G CTNNB1 catenin beta 1 ISO ClinVar Annotator: match by term: Cutaneous melanoma ClinVar PMID:10192393 PMID:25741868 PMID:26619011 NCBI chr 3:41,104,940...41,145,934
Ensembl chr 3:41,373,726...41,414,030
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 chr 6:30,625,871...30,645,066
Ensembl chr 6:31,496,047...31,513,455
JBrowse link
G DNMT3B DNA methyltransferase 3 beta disease_progression ISO RGD PMID:21081840 RGD:9589074 NCBI chr20:29,049,993...29,096,957
Ensembl chr20:30,186,069...30,215,487
JBrowse link
G EML1 EMAP like 1 disease_progression ISO DNA:SNP: :rs10151787 (A>G) RGD PMID:34249459 RGD:597538489 NCBI chr14:80,362,837...80,566,996
Ensembl chr14:99,793,812...99,885,359
JBrowse link
G FANCA FA complementation group A disease_progression ISO DNA:SNP: :rs62068372 (human) RGD PMID:25243787 RGD:11344896 NCBI chr16:70,495,310...70,579,275
Ensembl chr16:90,163,950...90,245,147
JBrowse link
G FANCD2 FA complementation group D2 ISO mRNA,protein:increased expression:skin,nucleus: RGD PMID:21697891 RGD:11046262 NCBI chr 3:9,932,292...10,037,332
Ensembl chr 3:10,312,476...10,389,190
JBrowse link
G FBXW7 F-box and WD repeat domain containing 7 ISO ClinVar Annotator: match by term: Cutaneous melanoma | ClinVar Annotator: match by term: Malignant melanoma of skin ClinVar PMID:25741868 PMID:26619011 NCBI chr 4:144,660,676...144,874,404
Ensembl chr 4:156,312,274...156,402,351
JBrowse link
G GPX1 glutathione peroxidase 1 ISO mRNA:increased expression:skin of body (human) RGD PMID:29535818 RGD:152023655 NCBI chr 3:49,280,038...49,281,455
Ensembl chr 3:50,360,947...50,361,826
JBrowse link
G GRM1 glutamate metabotropic receptor 1 ISO OMIM:608035 | OMIM:612263 MouseDO NCBI chr 6:143,819,364...144,231,304
Ensembl chr 6:148,537,036...148,947,047
JBrowse link
G GSTM1 glutathione S-transferase mu 1 susceptibility ISO DNA:deletion:: (human) RGD PMID:11352862 RGD:12792221 Ensembl chr 1:127,979,238...128,010,411 JBrowse link
G HIF1A hypoxia inducible factor 1 subunit alpha ISO protein:increased expression:epidermis (human) RGD PMID:19558170 RGD:8695922 NCBI chr14:42,295,691...42,348,478
Ensembl chr14:60,552,374...60,604,885
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 chr11:537,488...540,810
Ensembl chr11:568,305...571,078
JBrowse link
G ICAM1 intercellular adhesion molecule 1 disease_progression ISO DNA:missense mutation:exon:p.R241G (human) RGD PMID:16313300 RGD:8547698 NCBI chr19:9,821,402...9,837,021
Ensembl chr19:10,484,414...10,500,605
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 chr2B:95,475,320...95,494,286
Ensembl chr2B:213,599,036...213,617,175
JBrowse link
G JMJD6 jumonji domain containing 6, arginine demethylase and lysine hydroxylase ISO CTD Direct Evidence: marker/mechanism CTD PMID:30619488 NCBI chr17:70,789,922...70,803,791
Ensembl chr17:76,356,142...76,370,117
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 chr11:514,227...559,838
Ensembl chr11:575,495...588,750
JBrowse link
G MC1R melanocortin 1 receptor ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr16:70,676,447...70,697,636 JBrowse link
G MITF melanocyte inducing transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:22012259 PMID:22080950 NCBI chr 3:69,674,064...69,902,078
Ensembl chr 3:71,037,665...71,265,445
JBrowse link
G MMP1 matrix metallopeptidase 1 disease_progression ISO DNA:SNPs, haplotype:promoter:multiple
DNA:polymorphisms, haplotypes:promoter:multiple
RGD PMID:20655738 PMID:22198560 RGD:8549726 RGD:8549727 NCBI chr11:97,730,545...97,739,190
Ensembl chr11:101,221,393...101,230,104
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 chr16:35,711,866...35,738,881
Ensembl chr16:54,812,694...54,844,279
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 chr20:42,346,305...42,354,018
Ensembl chr20:43,432,389...43,440,129
JBrowse link
G NAIP NLR family apoptosis inhibitory protein exacerbates ISO mRNA:increased expression:zone of skin (human) RGD PMID:31964418 RGD:153344516 NCBI chr 5:44,345,623...44,401,358
Ensembl chr 5:45,920,125...45,973,937
JBrowse link
G OCA2 OCA2 melanosomal transmembrane protein susceptibility ISO DNA:snp:cds:p.R419Q (rs1800407) (human)
DNA:missense mutation:cds:p.H615R (rs1800414) (human)
DNA:snps:exon, intron:multiple (human)
RGD PMID:15889046 PMID:19710684 PMID:24617981 RGD:9491818 RGD:9491829 RGD:9491831 NCBI chr15:1,811,728...2,192,018
Ensembl chr15:25,181,386...25,523,774
JBrowse link
G PDCD4 programmed cell death 4 disease_progression ISO mRNA:decreased expression:skin (human) RGD PMID:26150475 RGD:11342032 NCBI chr10:107,465,084...107,493,285
Ensembl chr10:110,914,222...110,942,394
JBrowse link
G PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha ISO ClinVar Annotator: match by term: Cutaneous melanoma
ClinVar Annotator: match by term: Cutaneous melanoma | ClinVar Annotator: match by term: Malignant melanoma of skin
ClinVar PMID:15016963 PMID:15254419 PMID:15520168 PMID:15608678 PMID:15647370 More... NCBI chr 3:176,182,765...176,272,024
Ensembl chr 3:184,355,785...184,441,977
JBrowse link
G POT1 protection of telomeres 1 ISO ClinVar Annotator: match by term: Malignant melanoma of skin
ClinVar Annotator: match by term: DYSPLASTIC NEVUS SYNDROME, HEREDITARY
ClinVar PMID:24686846 PMID:25741868 PMID:26467025 PMID:28492532 PMID:30451293 More... NCBI chr 7:116,807,913...116,926,998
Ensembl chr 7:129,487,571...129,605,558
JBrowse link
G PTEN phosphatase and tensin homolog 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:1945792 PMID:9467011 PMID:9915974 PMID:10866302 PMID:11051241 More... NCBI chr10:84,587,841...84,689,043
Ensembl chr10:88,093,539...88,194,605
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 5:76,357,549...76,398,571
Ensembl chr 5:81,743,254...81,784,565
JBrowse link
G STAT3 signal transducer and activator of transcription 3 disease_progression ISO RGD PMID:21876460 RGD:8694297 NCBI chr17:14,928,689...15,003,644
Ensembl chr17:15,152,358...15,227,067
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... Ensembl chr19:1,188,537...1,210,677 JBrowse link
G TERT telomerase reverse transcriptase ISO CTD Direct Evidence: marker/mechanism CTD Ensembl chr 5:1,300,960...1,338,872 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 chr17:7,699,449...7,717,812
Ensembl chr17:7,684,922...7,706,120
JBrowse link
G TP73 tumor protein p73 ISO mRNA:increased expression:skin of body (human) RGD PMID:30420492 RGD:151347580 NCBI chr 1:2,323,399...2,405,295
Ensembl chr 1:3,476,064...3,529,206
JBrowse link
G TYR tyrosinase susceptibility ISO DNA:missense mutation:cds:p.R402Q(human) RGD PMID:21906913 RGD:8694390 NCBI chr11:84,188,557...84,306,686
Ensembl chr11:87,769,606...87,888,138
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 chr12:40,828,413...40,891,700
Ensembl chr12:41,702,742...41,766,192
JBrowse link
G XRCC3 X-ray repair cross complementing 3 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr14:84,323,644...84,341,763
Ensembl chr14:104,131,903...104,149,037
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 susceptibility 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 chr11:84,188,557...84,306,686
Ensembl chr11:87,769,606...87,888,138
JBrowse link
uveal melanoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BAP1 BRCA1 associated deubiquitinase 1 disease_progression
susceptibility
ISO mRNA,protein:decreased expression: :
ClinVar Annotator: match by term: Melanoma, uveal, susceptibility to, 2 | ClinVar Annotator: match by term: Uveal melanoma
RGD
OMIM
ClinVar
PMID:16341802 PMID:19197335 PMID:21874000 PMID:23032617 PMID:23684012 More... RGD:9586037 NCBI chr 3:52,344,067...52,352,187
Ensembl chr 3:53,573,785...53,581,943
JBrowse link
G BIRC7 baculoviral IAP repeat containing 7 exacerbates ISO mRNA:increased expression:uvea (human) RGD PMID:31964418 RGD:153344516 NCBI chr20:59,618,530...59,623,612
Ensembl chr20:61,157,302...61,161,932
JBrowse link
G BRCA2 BRCA2 DNA repair associated susceptibility ISO DNA:mutations: : RGD PMID:22187320 RGD:9068467 NCBI chr13:13,574,422...13,658,967
Ensembl chr13:32,010,066...32,091,332
JBrowse link
G CRP C-reactive protein disease_progression ISO RGD PMID:23057648 RGD:9491834 NCBI chr 1:135,062,102...135,064,402 JBrowse link
G GRM1 glutamate metabotropic receptor 1 ISO OMIM:155720 | OMIM:606660 | OMIM:606661 MouseDO NCBI chr 6:143,819,364...144,231,304
Ensembl chr 6:148,537,036...148,947,047
JBrowse link
G IGF1 insulin like growth factor 1 disease_progression ISO RGD PMID:23197685 RGD:8548834 NCBI chr12:99,986,887...100,066,773
Ensembl chr12:103,385,911...103,462,177
JBrowse link
G KDM5B lysine demethylase 5B severity ISO protein:increased expression:uvea (human) RGD PMID:22669717 RGD:9587775 NCBI chr 1:178,323,073...178,406,608
Ensembl chr 1:182,622,425...182,702,994
JBrowse link
G KDR kinase insert domain receptor disease_progression ISO RGD PMID:21984395 RGD:8549718 NCBI chr 4:68,813,894...68,861,018
Ensembl chr 4:75,377,375...75,427,109
JBrowse link
G LOC100982859 class I histocompatibility antigen, Gogo-B*0101 alpha chain severity ISO protein:increased expression:tumor of uvea (human) RGD PMID:9286277 RGD:7364941 NCBI chr 6:31,106,562...31,109,933
Ensembl chr 6:31,997,381...32,000,067
JBrowse link
G MBD4 methyl-CpG binding domain 4, DNA glycosylase susceptibility ISO ClinVar Annotator: match by term: MBD4-related condition | ClinVar Annotator: match by term: Melanoma, uveal, susceptibility to, 1 ClinVar
OMIM
PMID:25741868 PMID:28492532 PMID:29760383 PMID:30049810 PMID:30714079 More... NCBI chr 3:126,489,125...126,498,034
Ensembl chr 3:133,839,643...133,851,450
JBrowse link
G MCAM melanoma cell adhesion molecule disease_progression ISO RGD PMID:19958117 RGD:7364775 NCBI chr11:114,149,583...114,158,234
Ensembl chr11:118,078,179...118,083,893
JBrowse link
G PLCB4 phospholipase C beta 4 ISO ClinVar Annotator: match by term: Uveal melanoma ClinVar PMID:31186267 NCBI chr20:9,042,127...9,454,207
Ensembl chr20:9,192,061...9,456,443
JBrowse link
G SERPINE1 serpin family E member 1 treatment ISO human gene in mouse model RGD PMID:9326241 RGD:8547806 NCBI chr 7:93,267,517...93,279,728
Ensembl chr 7:106,510,130...106,518,450
JBrowse link
G SERPINF1 serpin family F member 1 severity ISO RGD PMID:23793989 RGD:8554893 NCBI chr17:1,745,597...1,761,399
Ensembl chr17:1,638,556...1,653,568
JBrowse link
G TMEM127 transmembrane protein 127 ISO ClinVar Annotator: match by term: Uveal melanoma ClinVar PMID:25741868 PMID:28492532 NCBI chr2A:103,049,655...103,065,116
Ensembl chr2A:97,174,322...97,189,171
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G VEGFA vascular endothelial growth factor A ISO protein:increased expression:iris, ciliary body, vitreous body; RGD PMID:11914216 RGD:7483591 NCBI chr 6:43,361,053...43,377,366
Ensembl chr 6:44,650,365...44,666,353
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15834
    disease of cellular proliferation 7464
      cancer 5469
        cell type cancer 3638
          melanoma 367
            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 + 46
            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 + 83
            spinal cord melanoma 0
            uveal melanoma + 16
paths to the root