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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:Nevi and Melanomas
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Accession:DOID:9005825 term browser browse the term
Definition:A collective term for the various types of nevi and melanomas.
Synonyms:primary_id: MESH:D018326;   RDO:0006092
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
 
Nevi and Melanomas term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BAP1 BRCA1 associated protein 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21874003 NCBI chr 3:52,401,004...52,410,030
Ensembl chr 3:52,401,008...52,410,008
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 EXP CTD Direct Evidence: therapeutic CTD PMID:15990972 NCBI chr 9:21,077,104...21,077,942
Ensembl chr 9:21,077,104...21,077,942
JBrowse link
Blue Nevus term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TBX5 T-box transcription factor 5 IAGP ClinVar Annotator: match by term: Blue nevus ClinVar NCBI chr12:114,353,911...114,408,708
Ensembl chr12:114,353,911...114,408,442
JBrowse link
Blue Rubber Bleb Nevus Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GLMN glomulin, FKBP associated protein IAGP ClinVar Annotator: match by term: Blue rubber bleb nevus ClinVar NCBI chr 1:92,245,786...92,441,936
Ensembl chr 1:92,246,402...92,298,987
JBrowse link
CLOVES syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GNA11 G protein subunit alpha 11 IAGP ClinVar Annotator: match by term: CLOVE SYNDROME ClinVar PMID:25741868 PMID:27476652 NCBI chr19:3,094,362...3,123,999
Ensembl chr19:3,094,362...3,123,999
JBrowse link
G PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha IAGP DNA: missense mutations: exon :p.H1047R, p.H1047L
ClinVar Annotator: match by term: CLOVE SYNDROME
ClinVar Annotator: match by term: Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi
ClinVar Annotator: match by term: CONGENITAL LIPOMATOUS OVERGROWTH, VASCULAR MALFORMATIONS, EPIDERMAL NEVI, AND SKELETAL/SPINAL ABNORMALITIES
ClinVar Annotator: match by term: CLOVES SYNDROME
ClinVar
OMIM
RGD
PMID:15016963 PMID:15254419 PMID:15520168 PMID:15608678 PMID:15647370 More... RGD:13207409 NCBI chr 3:179,148,114...179,240,093
Ensembl chr 3:179,148,114...179,240,093
JBrowse link
Cutaneous Malignant Melanoma, Susceptibility To, 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BRAF B-Raf proto-oncogene, serine/threonine kinase IAGP OMIM NCBI chr 7:140,713,328...140,924,929
Ensembl chr 7:140,719,327...140,924,929
JBrowse link
G POT1 protection of telomeres 1 IAGP ClinVar Annotator: match by term: DYSPLASTIC NEVUS SYNDROME, HEREDITARY ClinVar PMID:24686846 PMID:28492532 NCBI chr 7:124,822,386...124,929,825
Ensembl chr 7:124,822,386...124,929,983
JBrowse link
G STK11 serine/threonine kinase 11 IAGP ClinVar Annotator: match by term: FAMILIAL ATYPICAL MOLE-MALIGNANT MELANOMA SYNDROME
ClinVar Annotator: match by term: Malignant melanoma
ClinVar
OMIM
PMID:10201537 PMID:10208439 PMID:25157968 NCBI chr19:1,205,778...1,228,431
Ensembl chr19:1,177,558...1,228,431
JBrowse link
dysplastic nevus syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CDKN2A cyclin dependent kinase inhibitor 2A IAGP DNA:missense mutation:exon:p.P48L (human) RGD PMID:10338331 RGD:8552302 NCBI chr 9:21,967,752...21,995,324
Ensembl chr 9:21,967,752...21,995,301
JBrowse link
G POT1 protection of telomeres 1 IAGP ClinVar Annotator: match by term: B-K MOLE SYNDROME ClinVar PMID:24686846 PMID:28492532 NCBI chr 7:124,822,386...124,929,825
Ensembl chr 7:124,822,386...124,929,983
JBrowse link
G STK11 serine/threonine kinase 11 IAGP ClinVar Annotator: match by term: B-K MOLE SYNDROME ClinVar PMID:10201537 PMID:10208439 PMID:25157968 NCBI chr19:1,205,778...1,228,431
Ensembl chr19:1,177,558...1,228,431
JBrowse link
epidermal nevus term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FGFR3 fibroblast growth factor receptor 3 IAGP ClinVar Annotator: match by term: NEVUS, KERATINOCYTIC, NONEPIDERMOLYTIC
ClinVar Annotator: match by term: Epidermal nevus
OMIM
ClinVar
PMID:1908846 PMID:7649548 PMID:7670477 PMID:7773297 PMID:7847369 More... NCBI chr 4:1,793,293...1,808,872
Ensembl chr 4:1,793,293...1,808,872
JBrowse link
G HRAS HRas proto-oncogene, GTPase IAGP ClinVar Annotator: match by term: NEVUS, KERATINOCYTIC, NONEPIDERMOLYTIC
ClinVar Annotator: match by term: Nevus sebaceous
OMIM
ClinVar
PMID:2105486 PMID:2999610 PMID:3537694 PMID:6092966 PMID:6330729 More... NCBI chr11:532,242...535,576
Ensembl chr11:532,242...537,321
JBrowse link
G KRAS KRAS proto-oncogene, GTPase IAGP ClinVar Annotator: match by term: Nevus sebaceous
ClinVar Annotator: match by term: NEVUS, KERATINOCYTIC, NONEPIDERMOLYTIC
ClinVar PMID:2278970 PMID:2547513 PMID:3122217 PMID:3627975 PMID:7773929 More... NCBI chr12:25,205,246...25,250,929
Ensembl chr12:25,205,246...25,250,936
JBrowse link
G LRRC56 leucine rich repeat containing 56 IAGP ClinVar Annotator: match by term: NEVUS, KERATINOCYTIC, NONEPIDERMOLYTIC
ClinVar Annotator: match by term: Nevus sebaceous
ClinVar PMID:2105486 PMID:2999610 PMID:3537694 PMID:6092966 PMID:6330729 More... NCBI chr11:518,967...554,916
Ensembl chr11:537,527...554,912
JBrowse link
G NRAS NRAS proto-oncogene, GTPase IAGP ClinVar Annotator: match by term: NEVUS, KERATINOCYTIC, NONEPIDERMOLYTIC ClinVar
OMIM
PMID:1654209 PMID:2278970 PMID:2674680 PMID:3122217 PMID:6587382 More... NCBI chr 1:114,704,469...114,716,771
Ensembl chr 1:114,704,469...114,716,771
JBrowse link
G PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha IAGP ClinVar Annotator: match by term: NEVUS, KERATINOCYTIC, NONEPIDERMOLYTIC
ClinVar Annotator: match by term: Epidermal nevus
ClinVar
OMIM
PMID:15016963 PMID:15254419 PMID:15520168 PMID:15647370 PMID:15805248 More... NCBI chr 3:179,148,114...179,240,093
Ensembl chr 3:179,148,114...179,240,093
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 IMP RGD PMID:27539851 RGD:13831304 NCBI chr20:25,006,232...25,058,143
Ensembl chr20:25,006,230...25,058,980
JBrowse link
G ACSS2 acyl-CoA synthetase short chain family member 2 treatment IMP RGD PMID:27539851 RGD:13831304 NCBI chr20:34,874,942...34,927,962
Ensembl chr20:34,872,146...34,927,962
JBrowse link
G ANTXR1 ANTXR cell adhesion molecule 1 treatment ISO
IDA
RGD PMID:19622764 PMID:19609240 RGD:9684925, RGD:9684939 NCBI chr 2:69,013,144...69,249,327
Ensembl chr 2:69,013,176...69,249,327
JBrowse link
G BRAF B-Raf proto-oncogene, serine/threonine kinase EXP CTD Direct Evidence: marker/mechanism CTD PMID:29179997 PMID:29438700 NCBI chr 7:140,713,328...140,924,929
Ensembl chr 7:140,719,327...140,924,929
JBrowse link
G CALR calreticulin EXP CTD Direct Evidence: therapeutic CTD PMID:16388313 NCBI chr19:12,938,609...12,944,489
Ensembl chr19:12,938,578...12,944,489
JBrowse link
G CCL20 C-C motif chemokine ligand 20 treatment ISO RGD PMID:14500387 RGD:7483600 NCBI chr 2:227,813,842...227,817,556
Ensembl chr 2:227,805,739...227,817,564
JBrowse link
G CTLA4 cytotoxic T-lymphocyte associated protein 4 treatment IMP RGD PMID:24041689 RGD:7411680 NCBI chr 2:203,867,771...203,873,965
Ensembl chr 2:203,867,771...203,873,965
JBrowse link
G EGR1 early growth response 1 ISO mRNA, protein:increased expression:salivary gland (mouse) RGD PMID:19517020 RGD:5131885 NCBI chr 5:138,465,479...138,469,303
Ensembl chr 5:138,465,479...138,469,303
JBrowse link
G ESR2 estrogen receptor 2 severity ISO RGD PMID:20354658 RGD:8694122 NCBI chr14:64,226,707...64,338,631
Ensembl chr14:64,084,232...64,338,112
JBrowse link
G HGF hepatocyte growth factor ISO RGD PMID:9823327 RGD:8548620 NCBI chr 7:81,699,006...81,770,438
Ensembl chr 7:81,699,010...81,770,438
JBrowse link
G IFNB1 interferon beta 1 EXP CTD Direct Evidence: therapeutic CTD PMID:16417267 NCBI chr 9:21,077,104...21,077,942
Ensembl chr 9:21,077,104...21,077,942
JBrowse link
G IKBKB inhibitor of nuclear factor kappa B kinase subunit beta IMP RGD PMID:19276165 RGD:7495758 NCBI chr 8:42,270,727...42,332,460
Ensembl chr 8:42,271,302...42,332,460
JBrowse link
G IL18 interleukin 18 treatment ISO RGD PMID:12230493 PMID:17411412 RGD:8655870, RGD:8655901 NCBI chr11:112,143,251...112,164,104
Ensembl chr11:112,143,253...112,164,096
JBrowse link
G IL1A interleukin 1 alpha treatment ISO RGD PMID:8061895 RGD:7794735 NCBI chr 2:112,773,925...112,784,493
Ensembl chr 2:112,773,925...112,784,493
JBrowse link
G IL1B interleukin 1 beta IDA RGD PMID:1966551 RGD:7401226 NCBI chr 2:112,829,751...112,836,843
Ensembl chr 2:112,829,751...112,836,816
JBrowse link
G IL2 interleukin 2 IDA RGD PMID:11884028 RGD:8662950 NCBI chr 4:122,451,470...122,456,725
Ensembl chr 4:122,451,470...122,456,725
JBrowse link
G KDM1A lysine demethylase 1A EXP CTD Direct Evidence: marker/mechanism CTD PMID:29438700 NCBI chr 1:23,019,443...23,083,691
Ensembl chr 1:23,019,443...23,083,689
JBrowse link
G KDM4C lysine demethylase 4C EXP CTD Direct Evidence: marker/mechanism CTD PMID:29438700 NCBI chr 9:6,720,863...7,175,648
Ensembl chr 9:6,720,863...7,175,648
JBrowse link
G MC1R melanocortin 1 receptor ISO RGD PMID:20126537 RGD:5687319 NCBI chr16:89,918,862...89,920,972
Ensembl chr16:89,912,119...89,920,973
JBrowse link
G PDCD1 programmed cell death 1 treatment ISO RGD PMID:19208793 RGD:9589070 NCBI chr 2:241,849,881...241,858,908
Ensembl chr 2:241,849,884...241,858,894
JBrowse link
G PTEN phosphatase and tensin homolog EXP CTD Direct Evidence: marker/mechanism CTD PMID:29179997 NCBI chr10:87,863,625...87,971,930
Ensembl chr10:87,863,625...87,971,930
JBrowse link
G PXN paxillin EXP CTD Direct Evidence: marker/mechanism CTD PMID:18492274 NCBI chr12:120,210,447...120,265,737
Ensembl chr12:120,210,439...120,265,771
JBrowse link
G TERT telomerase reverse transcriptase treatment ISO RGD PMID:19903903 RGD:11038656 NCBI chr 5:1,253,167...1,295,068
Ensembl chr 5:1,253,147...1,295,068
JBrowse link
familial melanoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CDK4 cyclin dependent kinase 4 IAGP ClinVar Annotator: match by term: Hereditary cutaneous melanoma
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 5
ClinVar Annotator: match by term: Cutaneous Malignant Melanoma, Dominant
ClinVar
OMIM
PMID:5377176 PMID:7652577 PMID:8528263 PMID:8968104 PMID:9228064 More... NCBI chr12:57,747,727...57,752,310
Ensembl chr12:57,747,727...57,756,013
JBrowse link
G CDKN2A cyclin dependent kinase inhibitor 2A IAGP ClinVar Annotator: match by term: Hereditary cutaneous melanoma
ClinVar Annotator: match by term: Familial melanoma
ClinVar Annotator: match by term: Cutaneous malignant melanoma 5
ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10
ClinVar Annotator: match by term: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 3
ClinVar Annotator: match by term: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2
ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 2
ClinVar
OMIM
PMID:2319082 PMID:2677576 PMID:7566978 PMID:7569991 PMID:7614482 More... NCBI chr 9:21,967,752...21,995,324
Ensembl chr 9:21,967,752...21,995,301
JBrowse link
G CDKN2A-DT CDKN2A divergent transcript IAGP ClinVar Annotator: match by term: Hereditary cutaneous melanoma ClinVar PMID:28492532 NCBI chr 9:21,967,139...21,967,754
Ensembl chr 9:21,966,929...21,967,751
JBrowse link
G CDKN2B cyclin dependent kinase inhibitor 2B IAGP ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:9622062 PMID:15146471 PMID:16905682 PMID:28492532 NCBI chr 9:22,002,903...22,009,313
Ensembl chr 9:22,002,903...22,009,305
JBrowse link
G CDKN2B-AS1 CDKN2B antisense RNA 1 IAGP ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:9622062 PMID:15146471 PMID:16905682 PMID:28492532 NCBI chr 9:21,994,791...22,121,097
Ensembl chr 9:21,994,139...22,128,103
JBrowse link
G FANCA FA complementation group A IAGP ClinVar Annotator: match by term: Cutaneous malignant melanoma 5 ClinVar PMID:28492532 NCBI chr16:89,737,549...89,816,647
Ensembl chr16:89,737,549...89,816,657
JBrowse link
G KLC1 kinesin light chain 1 IAGP ClinVar Annotator: match by term: Cutaneous malignant melanoma 6 ClinVar PMID:11059748 NCBI chr14:103,629,211...103,701,544
Ensembl chr14:103,561,896...103,714,249
JBrowse link
G LOC110806263 TERT 5' regulatory region IAGP ClinVar Annotator: match by term: Cutaneous malignant melanoma 9 ClinVar PMID:20871597 PMID:22037553 PMID:23066086 PMID:23348503 PMID:23535731 More... NCBI chr 5:1,294,628...1,298,988 JBrowse link
G MC1R melanocortin 1 receptor IAGP ClinVar Annotator: match by term: Cutaneous malignant melanoma 5
ClinVar Annotator: match by term: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 5
ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10
ClinVar
OMIM
PMID:7581459 PMID:8894704 PMID:8944016 PMID:8990005 PMID:9032047 More... NCBI chr16:89,918,862...89,920,972
Ensembl chr16:89,912,119...89,920,973
JBrowse link
G MIR6759 microRNA 6759 IAGP ClinVar Annotator: match by term: Hereditary cutaneous melanoma
ClinVar Annotator: match by term: Familial melanoma
ClinVar PMID:28492532 NCBI chr12:57,748,618...57,748,682
Ensembl chr12:57,748,618...57,748,682
JBrowse link
G MITF melanocyte inducing transcription factor susceptibility EXP
IAGP
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: MELANOMA AND RENAL CELL CARCINOMA, SUSCEPTIBILITY TO
CTD
ClinVar
OMIM
PMID:2440678 PMID:22012259 PMID:22080950 PMID:22158021 PMID:23167872 More... NCBI chr 3:69,739,464...69,968,332
Ensembl chr 3:69,739,464...69,968,336
JBrowse link
G POT1 protection of telomeres 1 susceptibility IAGP
EXP
ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10
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: Hereditary cutaneous melanoma
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:9536098 PMID:16199547 PMID:17576681 PMID:23502782 PMID:24686846 More... NCBI chr 7:124,822,386...124,929,825
Ensembl chr 7:124,822,386...124,929,983
JBrowse link
G SPIRE2 spire type actin nucleation factor 2 IAGP ClinVar Annotator: match by term: Cutaneous malignant melanoma 5 ClinVar PMID:28492532 NCBI chr16:89,828,475...89,871,319
Ensembl chr16:89,818,179...89,871,319
JBrowse link
G TCF25 transcription factor 25 IAGP ClinVar Annotator: match by term: Cutaneous malignant melanoma 5 ClinVar PMID:28492532 NCBI chr16:89,873,592...89,911,384
Ensembl chr16:89,873,570...89,913,627
JBrowse link
G TERT telomerase reverse transcriptase IAGP ClinVar Annotator: match by term: Cutaneous malignant melanoma 9 OMIM
ClinVar
PMID:20871597 PMID:22037553 PMID:23066086 PMID:23348503 PMID:23535731 More... NCBI chr 5:1,253,167...1,295,068
Ensembl chr 5:1,253,147...1,295,068
JBrowse link
G TP53 tumor protein p53 IAGP ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:12826609 PMID:25741868 PMID:28492532 NCBI chr17:7,668,421...7,687,490
Ensembl chr17:7,661,779...7,687,538
JBrowse link
G TSPAN31 tetraspanin 31 IAGP 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: Hereditary cutaneous melanoma
ClinVar Annotator: match by term: Cutaneous malignant melanoma 5
ClinVar PMID:20668451 PMID:21520333 PMID:23718828 PMID:24728327 PMID:24755471 More... NCBI chr12:57,745,039...57,750,219
Ensembl chr12:57,738,013...57,750,219
JBrowse link
G TYR tyrosinase IAGP 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 chr11:89,177,565...89,295,759
Ensembl chr11:89,177,875...89,295,759
JBrowse link
G XRCC3 X-ray repair cross complementing 3 IAGP ClinVar Annotator: match by term: Cutaneous malignant melanoma 6 ClinVar
OMIM
PMID:11059748 NCBI chr14:103,697,611...103,715,486
Ensembl chr14:103,697,609...103,715,504
JBrowse link
large congenital melanocytic nevus term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HRAS HRas proto-oncogene, GTPase IAGP ClinVar Annotator: match by term: Congenital giant melanocytic nevus
ClinVar Annotator: match by term: MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC
OMIM
ClinVar
PMID:16170316 PMID:16329078 PMID:16372351 PMID:16443854 PMID:16835863 More... NCBI chr11:532,242...535,576
Ensembl chr11:532,242...537,321
JBrowse link
G LRRC56 leucine rich repeat containing 56 IAGP ClinVar Annotator: match by term: MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC
ClinVar Annotator: match by term: Congenital giant melanocytic nevus
ClinVar PMID:16170316 PMID:16329078 PMID:16372351 PMID:16443854 PMID:16835863 More... NCBI chr11:518,967...554,916
Ensembl chr11:537,527...554,912
JBrowse link
G NRAS NRAS proto-oncogene, GTPase IAGP ClinVar Annotator: match by term: MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC
ClinVar Annotator: match by term: Giant pigmented hairy nevus
ClinVar
OMIM
PMID:1654209 PMID:2278970 PMID:2674680 PMID:3102434 PMID:3122217 More... NCBI chr 1:114,704,469...114,716,771
Ensembl chr 1:114,704,469...114,716,771
JBrowse link
linear nevus sebaceous syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HRAS HRas proto-oncogene, GTPase IAGP
EXP
DNA:mutation:cds:c.37G>C(p.G13R)(human)
ClinVar Annotator: match by term: Epidermal nevus syndrome
ClinVar Annotator: match by term: Linear nevus sebaceous
ClinVar Annotator: match by term: Organoid nevus phakomatosis
ClinVar Annotator: match by term: Nevus, Sebaceous of Jadassohn
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
RGD
PMID:12835555 PMID:16170316 PMID:16329078 PMID:16372351 PMID:16443854 More... RGD:11098548 NCBI chr11:532,242...535,576
Ensembl chr11:532,242...537,321
JBrowse link
G KRAS KRAS proto-oncogene, GTPase IAGP
EXP
ClinVar Annotator: match by term: Linear nevus sebaceous
ClinVar Annotator: match by term: Nevus, Sebaceous of Jadassohn
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:2278970 PMID:3122217 PMID:7773929 PMID:8439212 PMID:12460918 More... NCBI chr12:25,205,246...25,250,929
Ensembl chr12:25,205,246...25,250,936
JBrowse link
G LRRC56 leucine rich repeat containing 56 IAGP ClinVar Annotator: match by term: Nevus, Sebaceous of Jadassohn
ClinVar Annotator: match by term: Epidermal nevus syndrome
ClinVar Annotator: match by term: Linear nevus sebaceous
ClinVar Annotator: match by term: Organoid nevus phakomatosis
ClinVar PMID:12835555 PMID:16170316 PMID:16329078 PMID:16372351 PMID:16443854 More... NCBI chr11:518,967...554,916
Ensembl chr11:537,527...554,912
JBrowse link
G NRAS NRAS proto-oncogene, GTPase IAGP ClinVar Annotator: match by term: Nevus, Sebaceous of Jadassohn ClinVar
OMIM
PMID:1654209 PMID:2278970 PMID:2674680 PMID:3122217 PMID:6587382 More... NCBI chr 1:114,704,469...114,716,771
Ensembl chr 1:114,704,469...114,716,771
JBrowse link
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 EXP CTD Direct Evidence: marker/mechanism CTD PMID:15899824 NCBI chr 7:20,615,667...20,757,008
Ensembl chr 7:20,615,667...20,777,038
JBrowse link
G ACER3 alkaline ceramidase 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr11:76,860,888...77,026,797
Ensembl chr11:76,860,859...77,026,797
JBrowse link
G ADAMTS20 ADAM metallopeptidase with thrombospondin type 1 motif 20 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21559390 NCBI chr12:43,352,843...43,552,203
Ensembl chr12:43,353,866...43,552,203
JBrowse link
G AGER advanced glycosylation end-product specific receptor treatment IMP RGD PMID:15009731 RGD:8695970 NCBI chr 6:32,180,969...32,184,380
Ensembl chr 6:32,180,968...32,184,322
JBrowse link
G AKR1B10 aldo-keto reductase family 1 member B10 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21499247 NCBI chr 7:134,527,567...134,541,412
Ensembl chr 7:134,527,567...134,541,412
JBrowse link
G AKT1 AKT serine/threonine kinase 1 IAGP ClinVar Annotator: match by term: MELANOMA, MALIGNANT, SOMATIC
ClinVar Annotator: match by term: Melanoma
ClinVar PMID:17611497 PMID:18256540 PMID:18392055 PMID:18504432 PMID:18611285 More... NCBI chr14:104,769,349...104,795,748
Ensembl chr14:104,769,349...104,795,751
JBrowse link
G ALDH1A1 aldehyde dehydrogenase 1 family member A1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:31580832 NCBI chr 9:72,900,671...72,953,053
Ensembl chr 9:72,900,671...73,080,442
JBrowse link
G ALDH1A3 aldehyde dehydrogenase 1 family member A3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:31580832 NCBI chr15:100,879,831...100,916,626
Ensembl chr15:100,877,714...100,916,626
JBrowse link
G AMIGO2 adhesion molecule with Ig like domain 2 treatment ISO RGD PMID:26553931 RGD:14392781 NCBI chr12:47,075,707...47,079,959
Ensembl chr12:47,075,707...47,079,959
JBrowse link
G APEX1 apurinic/apyrimidinic endodeoxyribonuclease 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:16373707 NCBI chr14:20,455,226...20,457,767
Ensembl chr14:20,455,191...20,457,772
JBrowse link
G ARL2 ADP ribosylation factor like GTPase 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr11:65,014,160...65,022,184
Ensembl chr11:65,014,160...65,022,184
JBrowse link
G ARL5B ADP ribosylation factor like GTPase 5B EXP CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr10:18,659,335...18,681,639
Ensembl chr10:18,659,431...18,681,639
JBrowse link
G ARNT aryl hydrocarbon receptor nuclear translocator EXP CTD Direct Evidence: marker/mechanism CTD PMID:21983785 NCBI chr 1:150,809,713...150,876,737
Ensembl chr 1:150,809,713...150,876,708
JBrowse link
G ARPC2 actin related protein 2/3 complex subunit 2 IEP protein:increased expression:nevus (human) RGD PMID:19332774 RGD:11049176 NCBI chr 2:218,217,138...218,254,348
Ensembl chr 2:218,217,141...218,254,356
JBrowse link
G ASF1A anti-silencing function 1A histone chaperone EXP CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr 6:118,894,152...118,909,171
Ensembl chr 6:118,894,152...118,909,171
JBrowse link
G ASIP agouti signaling protein EXP CTD Direct Evidence: marker/mechanism CTD PMID:18488027 PMID:18641652 PMID:21983785 NCBI chr20:34,186,493...34,269,344
Ensembl chr20:34,194,569...34,269,344
JBrowse link
G ASS1 argininosuccinate synthase 1 IMP RGD PMID:12359751 RGD:4140479 NCBI chr 9:130,444,707...130,501,274
Ensembl chr 9:130,444,961...130,501,274
JBrowse link
G ATM ATM serine/threonine kinase EXP CTD Direct Evidence: marker/mechanism CTD PMID:21983787 NCBI chr11:108,222,484...108,369,102
Ensembl chr11:108,223,044...108,369,102
JBrowse link
G ATRX ATRX chromatin remodeler disease_progression IEP protein:decreased expression:skin: RGD PMID:24468746 RGD:9586028 NCBI chr  X:77,504,880...77,786,235
Ensembl chr  X:77,504,880...77,786,233
JBrowse link
G AURKA aurora kinase A EXP CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr20:56,369,390...56,392,308
Ensembl chr20:56,369,389...56,392,337
JBrowse link
G B2M beta-2-microglobulin IAGP ClinVar Annotator: match by term: MELANOMA, MALIGNANT, SOMATIC ClinVar PMID:26619011 NCBI chr15:44,711,492...44,718,145
Ensembl chr15:44,711,487...44,718,851
JBrowse link
G BATF2 basic leucine zipper ATF-like transcription factor 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr11:64,987,945...64,996,971
Ensembl chr11:64,987,945...64,997,018
JBrowse link
G BCL2 BCL2 apoptosis regulator severity IEP protein:increased expression:lymph node (human) RGD PMID:8783649 RGD:11526106 NCBI chr18:63,123,346...63,320,280
Ensembl chr18:63,123,346...63,320,128
JBrowse link
G BCL2L1 BCL2 like 1 disease_progression IEP protein:increased expression:skin, subcutaneous tissue (human) RGD PMID:17384650 RGD:11353861 NCBI chr20:31,664,452...31,723,963
Ensembl chr20:31,664,452...31,723,989
JBrowse link
G BCL2L12 BCL2 like 12 IAGP ClinVar Annotator: match by term: MELANOMA, MALIGNANT, SOMATIC ClinVar PMID:26619011 NCBI chr19:49,664,834...49,673,916
Ensembl chr19:49,665,142...49,673,916
JBrowse link
G BMP4 bone morphogenetic protein 4 susceptibility IAGP DNA:SNP:cds:6007C>T (rs17563)(human) RGD PMID:19557432 RGD:9068447 NCBI chr14:53,949,736...53,956,891
Ensembl chr14:53,949,736...53,958,761
JBrowse link
G BRAF B-Raf proto-oncogene, serine/threonine kinase treatment
onset
IDA
IAGP
EXP
IMP
ClinVar Annotator: match by term: Malignant melanoma, somatic
ClinVar Annotator: match by term: Melanoma
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: MELANOMA, MALIGNANT, SOMATIC
DNA:mutations: :
ClinVar
CTD
RGD
PMID:2493360 PMID:2872605 PMID:8042262 PMID:12068308 PMID:12198537 More... RGD:1580103, RGD:11567267, RGD:11567259 NCBI chr 7:140,713,328...140,924,929
Ensembl chr 7:140,719,327...140,924,929
JBrowse link
G BRCA2 BRCA2 DNA repair associated susceptibility IAGP DNA:polymorphism:cds:p.N991D(human)
ClinVar Annotator: match by term: Melanoma
ClinVar
RGD
PMID:25741868 PMID:28492532 PMID:18024013 RGD:9068469 NCBI chr13:32,315,508...32,400,268
Ensembl chr13:32,315,086...32,400,268
JBrowse link
G BRD2 bromodomain containing 2 IEP protein:mRNA:skin: RGD PMID:23950209 RGD:9586346 NCBI chr 6:32,968,594...32,981,505
Ensembl chr 6:32,968,594...32,981,505
JBrowse link
G BRD4 bromodomain containing 4 IEP protein:mRNA:skin: RGD PMID:23950209 RGD:9586346 NCBI chr19:15,235,519...15,332,539
Ensembl chr19:15,235,519...15,332,545
JBrowse link
G BZW1 basic leucine zipper and W2 domains 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr 2:200,811,589...200,827,338
Ensembl chr 2:200,810,594...200,827,338
JBrowse link
G C11orf68 chromosome 11 open reading frame 68 EXP CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr11:65,916,810...65,919,062
Ensembl chr11:65,916,810...65,919,062
JBrowse link
G C3 complement C3 treatment ISO RGD PMID:17146472 RGD:7401279 NCBI chr19:6,677,704...6,720,650
Ensembl chr19:6,677,704...6,730,562
JBrowse link
G CAPN1 calpain 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr11:65,181,373...65,212,006
Ensembl chr11:65,180,566...65,212,006
JBrowse link
G CASP10 caspase 10 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18563783 NCBI chr 2:201,182,885...201,229,406
Ensembl chr 2:201,182,898...201,229,406
JBrowse link
G CASP8 caspase 8 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18563783 PMID:21983787 NCBI chr 2:201,233,443...201,287,711
Ensembl chr 2:201,233,443...201,287,711
JBrowse link
G CAT catalase IDA
ISO
protein:increased activity:melanocyte:
protein:increased activity:multiple:
RGD PMID:9758419 PMID:15224238 RGD:9479151, RGD:9479742 NCBI chr11:34,438,934...34,472,060
Ensembl chr11:34,438,934...34,472,060
JBrowse link
G CAV1 caveolin 1 disease_progression IEP RGD PMID:22134245 RGD:8661767 NCBI chr 7:116,525,009...116,561,185
Ensembl chr 7:116,524,994...116,561,179
JBrowse link
G CBS cystathionine beta-synthase EXP CTD Direct Evidence: marker/mechanism CTD PMID:25205294 NCBI chr21:43,053,190...43,076,873
Ensembl chr21:43,053,191...43,076,943
JBrowse link
G CCDC63 coiled-coil domain containing 63 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21499247 NCBI chr12:110,844,489...110,907,535
Ensembl chr12:110,846,769...110,907,535
JBrowse link
G CD163L1 CD163 molecule like 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:22842228 NCBI chr12:7,320,510...7,444,153
Ensembl chr12:7,346,685...7,479,897
JBrowse link
G CD40 CD40 molecule treatment ISO
IMP
RGD PMID:22421945 PMID:17327609 RGD:11522740, RGD:11522745 NCBI chr20:46,118,242...46,129,858
Ensembl chr20:46,118,278...46,129,863
JBrowse link
G CDK2 cyclin dependent kinase 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21559390 NCBI chr12:55,966,830...55,972,789
Ensembl chr12:55,966,781...55,972,789
JBrowse link
G CDK4 cyclin dependent kinase 4 IAGP ClinVar Annotator: match by term: Malignant melanoma
ClinVar Annotator: match by term: MELANOMA, MALIGNANT, SOMATIC
ClinVar PMID:5377176 PMID:7652577 PMID:8528263 PMID:8968104 PMID:9228064 More... NCBI chr12:57,747,727...57,752,310
Ensembl chr12:57,747,727...57,756,013
JBrowse link
G CDKN1A cyclin dependent kinase inhibitor 1A IEP protein:increased expression:skin RGD PMID:22311377 PMID:9194578 RGD:8662421, RGD:8662817 NCBI chr 6:36,676,463...36,687,332
Ensembl chr 6:36,676,460...36,687,337
JBrowse link
G CDKN1C cyclin dependent kinase inhibitor 1C EXP CTD Direct Evidence: marker/mechanism CTD PMID:17145863 NCBI chr11:2,883,218...2,885,775
Ensembl chr11:2,883,213...2,885,775
JBrowse link
G CDKN2A cyclin dependent kinase inhibitor 2A susceptibility IAGP
EXP
ISO
DNA:point mutation, insertion:exon
ClinVar Annotator: match by term: Malignant melanoma, somatic
ClinVar Annotator: match by term: Melanoma
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: MELANOMA, MALIGNANT, SOMATIC
ClinVar
CTD
RGD
PMID:7566978 PMID:7647780 PMID:7666917 PMID:7777061 PMID:7780957 More... RGD:1600812, RGD:8552300 NCBI chr 9:21,967,752...21,995,324
Ensembl chr 9:21,967,752...21,995,301
JBrowse link
G CHI3L1 chitinase 3 like 1 severity IEP protein:increased secretion:serum (human) RGD PMID:16456816 RGD:4892643 NCBI chr 1:203,178,931...203,186,704
Ensembl chr 1:203,178,931...203,186,704
JBrowse link
G CLNS1A chloride nucleotide-sensitive channel 1A EXP CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr11:77,614,530...77,637,794
Ensembl chr11:77,514,936...77,637,794
JBrowse link
G CLU clusterin EXP CTD Direct Evidence: therapeutic CTD PMID:15955107 NCBI chr 8:27,596,917...27,614,700
Ensembl chr 8:27,596,917...27,614,700
JBrowse link
G CNNM1 cyclin and CBS domain divalent metal cation transport mediator 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:16778180 NCBI chr10:99,329,101...99,394,330
Ensembl chr10:99,329,356...99,394,330
JBrowse link
G COL2A1 collagen type II alpha 1 chain EXP CTD Direct Evidence: marker/mechanism CTD PMID:16778180 NCBI chr12:47,972,967...48,006,212
Ensembl chr12:47,972,967...48,004,554
JBrowse link
G CP ceruloplasmin EXP CTD Direct Evidence: marker/mechanism CTD PMID:23792645 NCBI chr 3:149,162,410...149,222,008
Ensembl chr 3:149,162,410...149,221,829
JBrowse link
G CPT1C carnitine palmitoyltransferase 1C EXP CTD Direct Evidence: marker/mechanism CTD PMID:16778180 NCBI chr19:49,690,672...49,713,731
Ensembl chr19:49,690,898...49,713,731
JBrowse link
G CREBBP CREB binding protein IAGP ClinVar Annotator: match by term: MELANOMA, MALIGNANT, SOMATIC
ClinVar Annotator: match by term: Malignant melanoma, somatic
ClinVar PMID:21390126 PMID:21680795 PMID:21796119 PMID:22832583 PMID:23334668 More... NCBI chr16:3,725,054...3,880,727
Ensembl chr16:3,725,054...3,880,713
JBrowse link
G CRNKL1 crooked neck pre-mRNA splicing factor 1 IAGP ClinVar Annotator: match by term: MELANOMA, MALIGNANT, SOMATIC ClinVar PMID:26619011 NCBI chr20:20,034,368...20,056,046
Ensembl chr20:20,034,368...20,056,046
JBrowse link
G CRYBG1 crystallin beta-gamma domain containing 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:22402438 NCBI chr 6:106,360,717...106,572,017
Ensembl chr 6:106,360,717...106,572,017
JBrowse link
G CSF2 colony stimulating factor 2 EXP CTD Direct Evidence: therapeutic CTD PMID:11061616 NCBI chr 5:132,073,789...132,076,170
Ensembl chr 5:132,073,789...132,076,170
JBrowse link
G CSF3 colony stimulating factor 3 EXP CTD Direct Evidence: therapeutic CTD PMID:16120623 PMID:16260693 NCBI chr17:40,015,440...40,017,813
Ensembl chr17:40,015,361...40,017,813
JBrowse link
G CST6 cystatin E/M EXP CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr11:66,012,008...66,013,505
Ensembl chr11:66,012,008...66,013,505
JBrowse link
G CTH cystathionine gamma-lyase EXP CTD Direct Evidence: marker/mechanism CTD PMID:25205294 NCBI chr 1:70,411,268...70,441,949
Ensembl chr 1:70,411,218...70,439,851
JBrowse link
G CTLA4 cytotoxic T-lymphocyte associated protein 4 treatment IAGP
EXP
DNA:SNPs: :-11577G>A,rs3087243(human)
CTD Direct Evidence: therapeutic
CTD
RGD
PMID:21802280 PMID:23641913 RGD:7411681 NCBI chr 2:203,867,771...203,873,965
Ensembl chr 2:203,867,771...203,873,965
JBrowse link
G CTNNB1 catenin beta 1 IAGP ClinVar Annotator: match by term: MELANOMA, MALIGNANT, SOMATIC
ClinVar Annotator: match by term: Malignant melanoma, somatic
ClinVar Annotator: match by term: Melanoma
ClinVar PMID:9065402 PMID:9065403 PMID:9294210 PMID:9500465 PMID:9927029 More... NCBI chr 3:41,199,422...41,240,445
Ensembl chr 3:41,194,741...41,260,096
JBrowse link
G CUBN cubilin EXP CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr10:16,823,966...17,130,492
Ensembl chr10:16,823,966...17,129,811
JBrowse link
G CUL3 cullin 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr 2:224,470,150...224,585,363
Ensembl chr 2:224,470,150...224,585,397
JBrowse link
G CYP1B1 cytochrome P450 family 1 subfamily B member 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:17145863 NCBI chr 2:38,067,509...38,076,151
Ensembl chr 2:38,066,973...38,109,902
JBrowse link
G DCBLD1 discoidin, CUB and LCCL domain containing 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr 6:117,480,351...117,569,858
Ensembl chr 6:117,453,817...117,569,858
JBrowse link
G DCC DCC netrin 1 receptor EXP CTD Direct Evidence: marker/mechanism CTD PMID:22842228 NCBI chr18:52,340,172...53,535,899
Ensembl chr18:52,340,197...53,535,903
JBrowse link
G DDIT4L DNA damage inducible transcript 4 like EXP CTD Direct Evidence: marker/mechanism CTD PMID:16778180 NCBI chr 4:100,185,870...100,190,468
Ensembl chr 4:100,185,870...100,190,782
JBrowse link
G DDR2 discoidin domain receptor tyrosine kinase 2 ameliorates ISO DNA:deletion:exons: RGD PMID:24293323 RGD:150429711 NCBI chr 1:162,630,863...162,787,405
Ensembl chr 1:162,631,373...162,787,405
JBrowse link
G DLG2 discs large MAGUK scaffold protein 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr11:83,455,009...85,628,535
Ensembl chr11:83,455,012...85,627,922
JBrowse link
G DNAJC1 DnaJ heat shock protein family (Hsp40) member C1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr10:21,756,548...22,003,763
Ensembl chr10:21,756,548...22,003,769
JBrowse link
G DNAJC15 DnaJ heat shock protein family (Hsp40) member C15 EXP CTD Direct Evidence: marker/mechanism CTD PMID:17145863 NCBI chr13:43,023,586...43,114,213
Ensembl chr13:43,023,203...43,114,213
JBrowse link
G DRAP1 DR1 associated protein 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr11:65,919,426...65,921,563
Ensembl chr11:65,919,274...65,921,563
JBrowse link
G DSC1 desmocollin 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:22197931 NCBI chr18:31,129,236...31,162,856
Ensembl chr18:31,129,236...31,162,856
JBrowse link
G E2F1 E2F transcription factor 1 EXP CTD Direct Evidence: marker/mechanism|therapeutic CTD PMID:15574415 PMID:16827129 NCBI chr20:33,675,477...33,686,385
Ensembl chr20:33,675,477...33,686,385
JBrowse link
G ECHDC1 ethylmalonyl-CoA decarboxylase 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr 6:127,288,712...127,344,179
Ensembl chr 6:127,288,712...127,343,609
JBrowse link
G EDA ectodysplasin A EXP CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr  X:69,616,086...70,039,472
Ensembl chr  X:69,616,067...70,039,472
JBrowse link
G EHMT2 euchromatic histone lysine methyltransferase 2 disease_progression IEP RGD PMID:24658378 RGD:9590069 NCBI chr 6:31,879,759...31,897,698
Ensembl chr 6:31,879,759...31,897,687
JBrowse link
G EIF1AD eukaryotic translation initiation factor 1A domain containing EXP CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr11:65,996,545...66,002,217
Ensembl chr11:65,996,545...66,002,176
JBrowse link
G ELN elastin disease_progression IEP associated with Nevus, Pigmented; RGD PMID:11979070 PMID:19032378 RGD:9585752, RGD:9585768 NCBI chr 7:74,027,772...74,069,907
Ensembl chr 7:74,027,789...74,069,907
JBrowse link
G ENG endoglin treatment ISO RGD PMID:23076642 RGD:7248785 NCBI chr 9:127,815,012...127,854,773
Ensembl chr 9:127,815,013...127,854,658
JBrowse link
G EP300 E1A binding protein p300 EXP CTD Direct Evidence: marker/mechanism CTD PMID:23698071 NCBI chr22:41,092,592...41,180,077
Ensembl chr22:41,092,592...41,180,077
JBrowse link
G EPB41 erythrocyte membrane protein band 4.1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:17145863 NCBI chr 1:28,887,100...29,120,041
Ensembl chr 1:28,887,091...29,120,046
JBrowse link
G EPHX3 epoxide hydrolase 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:16778180 NCBI chr19:15,226,919...15,233,453
Ensembl chr19:15,226,919...15,233,435
JBrowse link
G EPO erythropoietin EXP CTD Direct Evidence: marker/mechanism CTD PMID:15743794 NCBI chr 7:100,720,468...100,723,700
Ensembl chr 7:100,720,468...100,723,700
JBrowse link
G EPOR erythropoietin receptor EXP CTD Direct Evidence: marker/mechanism CTD PMID:21860424 NCBI chr19:11,377,207...11,384,314
Ensembl chr19:11,377,207...11,384,342
JBrowse link
G ERBB2 erb-b2 receptor tyrosine kinase 2 IAGP ClinVar Annotator: match by term: MELANOMA, MALIGNANT, SOMATIC ClinVar PMID:18413839 PMID:22046346 PMID:23220880 PMID:25157968 PMID:26619011 NCBI chr17:39,688,094...39,728,660
Ensembl chr17:39,687,914...39,730,426
JBrowse link
G ERBB4 erb-b2 receptor tyrosine kinase 4 EXP
IAGP
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Melanoma
ClinVar Annotator: match by term: Malignant melanoma, somatic
CTD
ClinVar
PMID:19718025 NCBI chr 2:211,375,717...212,538,802
Ensembl chr 2:211,375,717...212,538,841
JBrowse link
G ERCC1 ERCC excision repair 1, endonuclease non-catalytic subunit EXP CTD Direct Evidence: marker/mechanism CTD PMID:21722328 NCBI chr19:45,407,334...45,451,547
Ensembl chr19:45,407,334...45,478,828
JBrowse link
G ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit disease_progression IAGP DNA:polymorphism:exon:p.K751Q(human) RGD PMID:21390047 RGD:12880434 NCBI chr19:45,349,837...45,370,647
Ensembl chr19:45,349,837...45,370,918
JBrowse link
G ERCC5 ERCC excision repair 5, endonuclease disease_progression IAGP DNA:polymorphism:exon:p.D1104H(human) RGD PMID:21390047 RGD:12880434 NCBI chr13:102,846,032...102,875,995
Ensembl chr13:102,845,831...102,875,995
JBrowse link
G ESR1 estrogen receptor 1 severity IEP RGD PMID:19153340 RGD:8553064 NCBI chr 6:151,654,148...152,129,619
Ensembl chr 6:151,656,691...152,129,619
JBrowse link
G ESR2 estrogen receptor 2 severity IEP RGD PMID:19153340 RGD:8553064 NCBI chr14:64,226,707...64,338,631
Ensembl chr14:64,084,232...64,338,112
JBrowse link
G F2RL1 F2R like trypsin receptor 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:17145863 NCBI chr 5:76,819,030...76,835,315
Ensembl chr 5:76,818,933...76,835,315
JBrowse link
G FAS Fas cell surface death receptor susceptibility IAGP DNA:polymorphisms:promoter:-1377A>G,-670A>G(human) RGD PMID:16538172 RGD:12903985 NCBI chr10:88,968,429...89,017,059
Ensembl chr10:88,990,531...89,017,059
JBrowse link
G FASLG Fas ligand susceptibility IAGP
EXP
DNA:polymorphisms,haplotype:promoter:-844C>T,IVS2nt-124A>G(human)
CTD Direct Evidence: therapeutic
CTD
RGD
PMID:16487513 PMID:16538172 RGD:12903985 NCBI chr 1:172,659,103...172,666,876
Ensembl chr 1:172,659,103...172,666,876
JBrowse link
G FASN fatty acid synthase EXP CTD Direct Evidence: marker/mechanism CTD PMID:18770866 PMID:20805790 PMID:21213365 NCBI chr17:82,078,338...82,098,303
Ensembl chr17:82,078,338...82,098,294
JBrowse link
G FAT4 FAT atypical cadherin 4 EXP CTD Direct Evidence: marker/mechanism CTD PMID:22197931 NCBI chr 4:125,314,918...125,492,932
Ensembl chr 4:125,314,918...125,492,932
JBrowse link
G FBN1 fibrillin 1 IAGP ClinVar Annotator: match by term: Malignant melanoma ClinVar PMID:7611299 PMID:8894692 PMID:9401003 PMID:9536098 PMID:10533071 More... NCBI chr15:48,408,313...48,645,709
Ensembl chr15:48,408,313...48,645,721
JBrowse link
G FBXW7 F-box and WD repeat domain containing 7 IAGP ClinVar Annotator: match by term: MELANOMA, MALIGNANT, SOMATIC ClinVar PMID:25741868 PMID:26619011 NCBI chr 4:152,320,544...152,536,873
Ensembl chr 4:152,320,544...152,536,092
JBrowse link
G FHIP2A FHF complex subunit HOOK interacting protein 2A EXP CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr10:114,821,780...114,899,832
Ensembl chr10:114,821,744...114,899,832
JBrowse link
G FLT1 fms related receptor tyrosine kinase 1 IEP
EXP
protein:increased expression:serum:
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:19718025 PMID:21730877 RGD:8552360 NCBI chr13:28,300,346...28,495,128
Ensembl chr13:28,300,346...28,495,145
JBrowse link
G FTO FTO alpha-ketoglutarate dependent dioxygenase EXP CTD Direct Evidence: marker/mechanism CTD PMID:23455637 NCBI chr16:53,703,963...54,121,941
Ensembl chr16:53,701,692...54,158,512
JBrowse link
G GAB2 GRB2 associated binding protein 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr11:78,215,293...78,417,820
Ensembl chr11:78,215,293...78,418,348
JBrowse link
G GDF15 growth differentiation factor 15 EXP CTD Direct Evidence: marker/mechanism CTD PMID:17145863 NCBI chr19:18,382,170...18,389,176
Ensembl chr19:18,374,731...18,389,176
JBrowse link
G GGT1 gamma-glutamyltransferase 1 disease_progression IEP RGD PMID:6120756 RGD:14747014 NCBI chr22:24,583,750...24,628,996
Ensembl chr22:24,594,811...24,629,005
JBrowse link
G GLO1 glyoxalase I EXP CTD Direct Evidence: marker/mechanism CTD PMID:20093988 NCBI chr 6:38,675,925...38,703,145
Ensembl chr 6:38,675,925...38,703,145
JBrowse link
G GNA11 G protein subunit alpha 11 EXP
IAGP
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: MELANOMA, MALIGNANT, SOMATIC
ClinVar Annotator: match by term: Malignant melanoma, somatic
CTD
ClinVar
PMID:1328859 PMID:2549426 PMID:21083380 PMID:21444680 PMID:22733540 More... NCBI chr19:3,094,362...3,123,999
Ensembl chr19:3,094,362...3,123,999
JBrowse link
G GNAQ G protein subunit alpha q EXP
IAGP
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Melanoma
ClinVar Annotator: match by term: Malignant melanoma, somatic
CTD
ClinVar
PMID:1328859 PMID:2549426 PMID:18719078 PMID:19078957 PMID:21083380 More... NCBI chr 9:77,716,097...78,031,811
Ensembl chr 9:77,716,097...78,031,811
JBrowse link
G GNAS GNAS complex locus IAGP ClinVar Annotator: match by term: MELANOMA, MALIGNANT, SOMATIC ClinVar PMID:1594625 PMID:1944469 PMID:2549426 PMID:3720010 PMID:7739708 More... NCBI chr20:58,839,681...58,911,192
Ensembl chr20:58,839,718...58,911,192
JBrowse link
G GOPC golgi associated PDZ and coiled-coil motif containing EXP CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr 6:117,560,269...117,602,520
Ensembl chr 6:117,560,269...117,602,542
JBrowse link
G GPAM glycerol-3-phosphate acyltransferase, mitochondrial EXP CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr10:112,149,865...112,216,306
Ensembl chr10:112,149,865...112,215,377
JBrowse link
G GPER1 G protein-coupled estrogen receptor 1 severity IEP protein:increased expression:skin (human) RGD PMID:28467693 RGD:39939016 NCBI chr 7:1,087,118...1,093,810
Ensembl chr 7:1,082,208...1,093,815
JBrowse link
G GPHA2 glycoprotein hormone subunit alpha 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr11:64,934,471...64,938,131
Ensembl chr11:64,934,471...64,935,893
JBrowse link
G GRIN2A glutamate ionotropic receptor NMDA type subunit 2A EXP CTD Direct Evidence: marker/mechanism CTD PMID:21499247 NCBI chr16:9,753,404...10,182,928
Ensembl chr16:9,753,404...10,182,928
JBrowse link
G GRM3 glutamate metabotropic receptor 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21946352 PMID:22842228 NCBI chr 7:86,643,909...86,864,879
Ensembl chr 7:86,643,909...86,864,879
JBrowse link
G GSTP1 glutathione S-transferase pi 1 IAGP DNA:polymorphism:cds:p.I50V(human) RGD PMID:23568549 RGD:8547833 NCBI chr11:67,583,812...67,586,653
Ensembl chr11:67,583,742...67,586,656
JBrowse link
G HDAC2 histone deacetylase 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr 6:113,933,028...113,971,148
Ensembl chr 6:113,933,028...114,011,308
JBrowse link
G HDAC3 histone deacetylase 3 ISO associated with Anaphylaxis; RGD PMID:24619412 RGD:9590165 NCBI chr 5:141,620,881...141,636,849
Ensembl chr 5:141,620,876...141,636,849
JBrowse link
G HDAC6 histone deacetylase 6 EXP CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr  X:48,801,398...48,824,982
Ensembl chr  X:48,801,377...48,824,982
JBrowse link
G HIKESHI heat shock protein nuclear import factor hikeshi EXP CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr11:86,302,229...86,345,943
Ensembl chr11:86,302,211...86,345,943
JBrowse link
G HLA-DQA1 major histocompatibility complex, class II, DQ alpha 1 susceptibility IAGP DNA:polymorphisms: : RGD PMID:16433795 RGD:8547661 NCBI chr 6:32,637,406...32,654,846
Ensembl chr 6:32,628,179...32,647,062
JBrowse link
G HOXA9 homeobox A9 EXP CTD Direct Evidence: marker/mechanism CTD PMID:16778180 NCBI chr 7:27,162,438...27,165,537
Ensembl chr 7:27,162,438...27,175,180
JBrowse link
G HOXB13 homeobox B13 EXP CTD Direct Evidence: marker/mechanism CTD PMID:17145863 NCBI chr17:48,724,763...48,728,750
Ensembl chr17:48,724,763...48,728,750
JBrowse link
G HOXD12 homeobox D12 EXP CTD Direct Evidence: marker/mechanism CTD PMID:16778180 NCBI chr 2:176,099,795...176,102,489
Ensembl chr 2:176,099,795...176,102,489
JBrowse link
G HPSE heparanase EXP CTD Direct Evidence: marker/mechanism CTD PMID:22240343 NCBI chr 4:83,292,461...83,335,153
Ensembl chr 4:83,292,461...83,335,153
JBrowse link
G HRAS HRas proto-oncogene, GTPase IAGP
EXP
ClinVar Annotator: match by term: MELANOMA, MALIGNANT, SOMATIC
ClinVar Annotator: match by term: Malignant melanoma
ClinVar Annotator: match by term: Malignant melanoma, somatic
ClinVar Annotator: match by term: Melanoma
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:1904555 PMID:2999610 PMID:3510078 PMID:3537694 PMID:6092966 More... NCBI chr11:532,242...535,576
Ensembl chr11:532,242...537,321
JBrowse link
G HS3ST5 heparan sulfate-glucosamine 3-sulfotransferase 5 EXP CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr 6:114,055,586...114,343,023
Ensembl chr 6:114,055,596...114,343,023
JBrowse link
G HSPA1A heat shock protein family A (Hsp70) member 1A EXP CTD Direct Evidence: marker/mechanism CTD PMID:26984758 NCBI chr 6:31,815,543...31,817,942
Ensembl chr 6:31,815,543...31,817,946
JBrowse link
G ICAM1 intercellular adhesion molecule 1 disease_progression IEP RGD PMID:8599446 RGD:8547584 NCBI chr19:10,271,120...10,286,615
Ensembl chr19:10,271,093...10,286,615
JBrowse link
G IDH1 isocitrate dehydrogenase (NADP(+)) 1 IAGP ClinVar Annotator: match by term: MELANOMA, MALIGNANT, SOMATIC
ClinVar Annotator: match by term: Malignant melanoma, somatic
ClinVar PMID:18772396 PMID:19657110 PMID:19798509 PMID:19818334 PMID:20946881 More... NCBI chr 2:208,236,227...208,255,071
Ensembl chr 2:208,236,229...208,266,074
JBrowse link
G IFNA1 interferon alpha 1 EXP CTD Direct Evidence: therapeutic CTD PMID:15176220 PMID:15577320 PMID:15577323 PMID:16034308 PMID:16260693 More... NCBI chr 9:21,440,439...21,441,316
Ensembl chr 9:21,440,439...21,441,316
JBrowse link
G IFNA2 interferon alpha 2 EXP CTD Direct Evidence: therapeutic CTD PMID:11135225 PMID:12374674 PMID:12393984 PMID:12439608 PMID:12829675 More... NCBI chr 9:21,384,255...21,385,398
Ensembl chr 9:21,384,255...21,385,398
JBrowse link
G IFNA5 interferon alpha 5 EXP CTD Direct Evidence: therapeutic CTD PMID:16809738 NCBI chr 9:21,304,326...21,305,313
Ensembl chr 9:21,304,326...21,305,313
JBrowse link
G IFNB1 interferon beta 1 EXP CTD Direct Evidence: therapeutic CTD PMID:16928243 PMID:21846298 NCBI chr 9:21,077,104...21,077,942
Ensembl chr 9:21,077,104...21,077,942
JBrowse link
G IFNG interferon gamma EXP CTD Direct Evidence: therapeutic CTD PMID:9794839 NCBI chr12:68,154,768...68,159,740
Ensembl chr12:68,154,768...68,159,740
JBrowse link
G IL17D interleukin 17D severity ISO RGD PMID:31244826 RGD:40903065 NCBI chr13:20,701,513...20,723,098
Ensembl chr13:20,702,127...20,723,098
JBrowse link
G IL1RAPL1 interleukin 1 receptor accessory protein like 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr  X:28,587,446...29,956,718
Ensembl chr  X:28,587,446...29,956,718
JBrowse link
G IL1RN interleukin 1 receptor antagonist IDA mouse model treated with human protein RGD PMID:8168095 RGD:6909140 NCBI chr 2:113,099,365...113,134,016
Ensembl chr 2:113,107,214...113,134,016
JBrowse link
G IL2 interleukin 2 EXP CTD Direct Evidence: therapeutic CTD PMID:12374674 PMID:12439608 PMID:15577323 PMID:15917704 PMID:16131448 More... NCBI chr 4:122,451,470...122,456,725
Ensembl chr 4:122,451,470...122,456,725
JBrowse link
G IL21 interleukin 21 treatment ISO RGD PMID:22477528 RGD:127285553 NCBI chr 4:122,610,108...122,621,066
Ensembl chr 4:122,610,108...122,621,066
JBrowse link
G INCENP inner centromere protein EXP CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr11:62,123,998...62,155,474
Ensembl chr11:62,123,998...62,153,169
JBrowse link
G IQCH IQ motif containing H EXP CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr15:67,254,786...67,501,804
Ensembl chr15:67,254,786...67,502,260
JBrowse link
G JAKMIP2 janus kinase and microtubule interacting protein 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:22842228 NCBI chr 5:147,585,438...147,782,796
Ensembl chr 5:147,585,438...147,782,775
JBrowse link
G JMJD6 jumonji domain containing 6, arginine demethylase and lysine hydroxylase EXP CTD Direct Evidence: marker/mechanism CTD PMID:30619488 NCBI chr17:76,712,830...76,726,783
Ensembl chr17:76,712,832...76,726,799
JBrowse link
G KDM1A lysine demethylase 1A EXP CTD Direct Evidence: marker/mechanism CTD PMID:29438700 NCBI chr 1:23,019,443...23,083,691
Ensembl chr 1:23,019,443...23,083,689
JBrowse link
G KDM4A lysine demethylase 4A EXP CTD Direct Evidence: marker/mechanism CTD PMID:29438700 NCBI chr 1:43,650,149...43,705,518
Ensembl chr 1:43,650,149...43,705,518
JBrowse link
G KDM4B lysine demethylase 4B EXP CTD Direct Evidence: marker/mechanism CTD PMID:29438700 NCBI chr19:4,969,087...5,153,603
Ensembl chr19:4,969,113...5,153,598
JBrowse link
G KDM4C lysine demethylase 4C EXP CTD Direct Evidence: marker/mechanism CTD PMID:29438700 NCBI chr 9:6,720,863...7,175,648
Ensembl chr 9:6,720,863...7,175,648
JBrowse link
G KDM7A lysine demethylase 7A IMP human gene in a mouse model RGD PMID:22143793 RGD:9587848 NCBI chr 7:140,084,746...140,176,983
Ensembl chr 7:140,084,746...140,176,983
JBrowse link
G KDR kinase insert domain receptor disease_progression
treatment
IEP
ISO
protein:increased expression, altered expression:skin:
protein:increased expression:serum:
RGD PMID:15714119 PMID:12415261 PMID:21730877 RGD:8551851, RGD:126925192, RGD:8552360 NCBI chr 4:55,078,481...55,125,595
Ensembl chr 4:55,078,481...55,125,595
JBrowse link
G KHDRBS2 KH RNA binding domain containing, signal transduction associated 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21499247 NCBI chr 6:61,542,670...62,286,225
Ensembl chr 6:61,679,961...62,286,225
JBrowse link
G KIF18B kinesin family member 18B EXP CTD Direct Evidence: marker/mechanism CTD PMID:31617652 NCBI chr17:44,924,711...44,947,773
Ensembl chr17:44,924,709...44,947,773
JBrowse link
G KIT KIT proto-oncogene, receptor tyrosine kinase disease_progression IEP
IAGP
ClinVar Annotator: match by term: Melanoma
ClinVar Annotator: match by term: Malignant melanoma, somatic
ClinVar
RGD
PMID:7513208 PMID:7530509 PMID:8589724 PMID:9438854 PMID:9657776 More... RGD:12910725 NCBI chr 4:54,657,957...54,740,715
Ensembl chr 4:54,657,918...54,740,715
JBrowse link
G KLRB1 killer cell lectin like receptor B1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:17295095 NCBI chr12:9,594,551...9,607,916
Ensembl chr12:9,594,551...9,607,916
JBrowse link
G KLRK1 killer cell lectin like receptor K1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:17295095 NCBI chr12:10,372,353...10,390,041
Ensembl chr12:10,372,353...10,391,874
JBrowse link
G KNSTRN kinetochore localized astrin (SPAG5) binding protein IAGP ClinVar Annotator: match by term: MELANOMA, MALIGNANT, SOMATIC ClinVar PMID:26619011 NCBI chr15:40,382,721...40,394,288
Ensembl chr15:40,382,721...40,394,246
JBrowse link
G KRAS KRAS proto-oncogene, GTPase IAGP ClinVar Annotator: match by term: MELANOMA, MALIGNANT, SOMATIC ClinVar PMID:2278970 PMID:3122217 PMID:12460918 PMID:15696205 PMID:16361624 More... NCBI chr12:25,205,246...25,250,929
Ensembl chr12:25,205,246...25,250,936
JBrowse link
G LGALS3 galectin 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:23994248 NCBI chr14:55,129,252...55,145,430
Ensembl chr14:55,124,110...55,145,423
JBrowse link
G LRP1B LDL receptor related protein 1B ameliorates EXP
IAGP
CTD Direct Evidence: marker/mechanism
DNA:mutations:multiple: (human)
CTD
RGD
PMID:22197931 PMID:31164891 RGD:150429775 NCBI chr 2:140,231,423...142,132,463
Ensembl chr 2:140,231,423...142,131,016
JBrowse link
G LRRC56 leucine rich repeat containing 56 IAGP ClinVar Annotator: match by term: MELANOMA, MALIGNANT, SOMATIC
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 chr11:518,967...554,916
Ensembl chr11:537,527...554,912
JBrowse link
G LTA lymphotoxin alpha disease_progression IEP RGD PMID:9182821 RGD:8548801 NCBI chr 6:31,560,550...31,574,324
Ensembl chr 6:31,572,054...31,574,324
JBrowse link
G LXN latexin EXP CTD Direct Evidence: marker/mechanism CTD PMID:17145863 NCBI chr 3:158,666,414...158,672,722
Ensembl chr 3:158,645,822...158,672,648
JBrowse link
G MAGEA1 MAGE family member A1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:26640592 NCBI chr  X:153,179,284...153,183,880
Ensembl chr  X:153,179,284...153,183,880
JBrowse link
G MAGEC1 MAGE family member C1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:22842228 NCBI chr  X:141,903,877...141,909,401
Ensembl chr  X:141,903,894...141,909,374
JBrowse link
G MAP2K1 mitogen-activated protein kinase kinase 1 IAGP
EXP
ClinVar Annotator: match by term: MELANOMA, MALIGNANT, SOMATIC
ClinVar Annotator: match by term: Melanoma
ClinVar Annotator: match by term: Malignant melanoma, somatic
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:7651428 PMID:17366577 PMID:17551924 PMID:17704260 PMID:18060073 More... NCBI chr15:66,386,912...66,491,544
Ensembl chr15:66,386,837...66,491,544
JBrowse link
G MAP2K2 mitogen-activated protein kinase kinase 2 EXP
IAGP
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Melanoma
CTD
ClinVar
PMID:22197931 PMID:24265153 PMID:24265154 NCBI chr19:4,090,321...4,124,184
Ensembl chr19:4,090,321...4,124,122
JBrowse link
G MAP3K5 mitogen-activated protein kinase kinase kinase 5 EXP CTD Direct Evidence: marker/mechanism CTD PMID:22197930 NCBI chr 6:136,557,046...136,793,098
Ensembl chr 6:136,557,046...136,792,477
JBrowse link
G MAP3K9 mitogen-activated protein kinase kinase kinase 9 EXP CTD Direct Evidence: marker/mechanism CTD PMID:22197930 NCBI chr14:70,722,526...70,809,513
Ensembl chr14:70,722,526...70,809,534
JBrowse link
G MC1R melanocortin 1 receptor IAGP
EXP
DNA:missense mutations:cds:multiple (human)
ClinVar Annotator: match by term: Malignant melanoma
ClinVar Annotator: match by term: Malignant Melanoma Susceptibility
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
RGD
PMID:7581459 PMID:16809487 PMID:16982779 PMID:17616515 PMID:18366057 More... RGD:1600619, RGD:6484659 NCBI chr16:89,918,862...89,920,972
Ensembl chr16:89,912,119...89,920,973
JBrowse link
G MDM2 MDM2 proto-oncogene EXP CTD Direct Evidence: marker/mechanism CTD PMID:17210701 NCBI chr12:68,808,149...68,850,686
Ensembl chr12:68,808,177...68,845,544
JBrowse link
G MELTF melanotransferrin EXP CTD Direct Evidence: marker/mechanism CTD PMID:16704991 NCBI chr 3:197,001,740...197,029,817
Ensembl chr 3:196,988,621...197,029,817
JBrowse link
G MET MET proto-oncogene, receptor tyrosine kinase EXP CTD Direct Evidence: marker/mechanism CTD PMID:29426936 NCBI chr 7:116,672,196...116,798,386
Ensembl chr 7:116,672,196...116,798,377
JBrowse link
G MGMT O-6-methylguanine-DNA methyltransferase ISO protein:increased activity:skin tumor (rat) RGD PMID:20182810 RGD:2316960 NCBI chr10:129,467,241...129,770,983
Ensembl chr10:129,467,190...129,770,983
JBrowse link
G MIR340 microRNA 340 EXP CTD Direct Evidence: marker/mechanism CTD PMID:25043973 NCBI chr 5:180,015,303...180,015,397
Ensembl chr 5:180,015,303...180,015,397
JBrowse link
G MITF melanocyte inducing transcription factor IEP
IAGP
EXP
mRNA:increased expression:blood
ClinVar Annotator: match by term: Melanoma
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
RGD
PMID:2440678 PMID:22012259 PMID:22080950 PMID:22158021 PMID:23167872 More... RGD:13204752 NCBI chr 3:69,739,464...69,968,332
Ensembl chr 3:69,739,464...69,968,336
JBrowse link
G MLANA melan-A EXP CTD Direct Evidence: marker/mechanism CTD PMID:26640592 NCBI chr 9:5,890,889...5,910,606
Ensembl chr 9:5,890,889...5,910,606
JBrowse link
G MLLT10 MLLT10 histone lysine methyltransferase DOT1L cofactor EXP CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr10:21,524,616...21,743,630
Ensembl chr10:21,524,646...21,743,630
JBrowse link
G MMP8 matrix metallopeptidase 8 EXP CTD Direct Evidence: therapeutic CTD PMID:19330028 NCBI chr11:102,711,796...102,724,967
Ensembl chr11:102,711,796...102,727,050
JBrowse link
G MPST mercaptopyruvate sulfurtransferase EXP CTD Direct Evidence: marker/mechanism CTD PMID:25205294 NCBI chr22:37,019,742...37,029,815
Ensembl chr22:37,019,635...37,029,821
JBrowse link
G MRPL49 mitochondrial ribosomal protein L49 EXP CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr11:65,122,183...65,127,371
Ensembl chr11:65,122,183...65,127,371
JBrowse link
G MTAP methylthioadenosine phosphorylase EXP CTD Direct Evidence: marker/mechanism CTD PMID:19578364 NCBI chr 9:21,802,636...21,867,081
Ensembl chr 9:21,802,636...21,937,651
JBrowse link
G MTOR mechanistic target of rapamycin kinase IAGP ClinVar Annotator: match by term: MELANOMA, MALIGNANT, SOMATIC ClinVar PMID:24631838 PMID:26018084 PMID:26619011 PMID:27159400 PMID:27830187 NCBI chr 1:11,106,535...11,273,497
Ensembl chr 1:11,106,535...11,262,551
JBrowse link
G MTPAP mitochondrial poly(A) polymerase EXP CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr10:30,309,801...30,349,278
Ensembl chr10:30,309,801...30,374,448
JBrowse link
G MX2 MX dynamin like GTPase 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21983787 NCBI chr21:41,361,944...41,409,393
Ensembl chr21:41,361,999...41,409,393
JBrowse link
G MYO7A myosin VIIA EXP CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr11:77,128,192...77,215,241
Ensembl chr11:77,128,246...77,215,241
JBrowse link
G NDRG1 N-myc downstream regulated 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:15341671 NCBI chr 8:133,237,175...133,297,252
Ensembl chr 8:133,237,175...133,302,022
JBrowse link
G NF1 neurofibromin 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:25119042 PMID:26214590 NCBI chr17:31,094,927...31,377,677
Ensembl chr17:31,094,927...31,382,116
JBrowse link
G NFKB1 nuclear factor kappa B subunit 1 IAGP DNA:insertion(s) RGD PMID:17492467 RGD:2298900 NCBI chr 4:102,501,266...102,617,302
Ensembl chr 4:102,501,331...102,617,302
JBrowse link
G NFKBIA NFKB inhibitor alpha IAGP DNA:insertion(s) RGD PMID:17492467 RGD:2298900 NCBI chr14:35,401,513...35,404,749
Ensembl chr14:35,401,513...35,404,749
JBrowse link
G NFKBIE NFKB inhibitor epsilon EXP CTD Direct Evidence: marker/mechanism CTD PMID:26343386 NCBI chr 6:44,258,166...44,265,551
Ensembl chr 6:44,258,166...44,265,788
JBrowse link
G NGFR nerve growth factor receptor EXP CTD Direct Evidence: marker/mechanism CTD PMID:30339727 NCBI chr17:49,495,293...49,515,008
Ensembl chr17:49,495,293...49,515,008
JBrowse link
G NPAP1 nuclear pore associated protein 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:22842228 NCBI chr15:24,675,775...24,683,393
Ensembl chr15:24,675,775...24,683,393
JBrowse link
G NPPA natriuretic peptide A EXP CTD Direct Evidence: therapeutic CTD PMID:18004088 NCBI chr 1:11,845,709...11,847,783
Ensembl chr 1:11,845,709...11,848,345
JBrowse link
G NRAS NRAS proto-oncogene, GTPase IAGP
EXP
ClinVar Annotator: match by term: MELANOMA, MALIGNANT, SOMATIC
ClinVar Annotator: match by term: Malignant melanoma, somatic
ClinVar Annotator: match by term: Melanoma
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:1654209 PMID:2278970 PMID:2407301 PMID:2674680 PMID:2989702 More... NCBI chr 1:114,704,469...114,716,771
Ensembl chr 1:114,704,469...114,716,771
JBrowse link
G NT5DC1 5'-nucleotidase domain containing 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr 6:116,100,833...116,249,497
Ensembl chr 6:116,100,851...116,249,497
JBrowse link
G NUF2 NUF2 component of NDC80 kinetochore complex disease_progression IEP RGD PMID:27237743 RGD:28867234 NCBI chr 1:163,321,948...163,355,764
Ensembl chr 1:163,266,576...163,355,764
JBrowse link
G NUS1 NUS1 dehydrodolichyl diphosphate synthase subunit EXP CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr 6:117,675,469...117,710,727
Ensembl chr 6:117,675,469...117,710,727
JBrowse link
G PARP1 poly(ADP-ribose) polymerase 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:28759004 NCBI chr 1:226,360,691...226,408,093
Ensembl chr 1:226,360,210...226,408,154
JBrowse link
G PAX4 paired box 4 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18949370 NCBI chr 7:127,610,292...127,618,142
Ensembl chr 7:127,610,292...127,618,142
JBrowse link
G PAX6 paired box 6 EXP CTD Direct Evidence: marker/mechanism CTD PMID:16778180 NCBI chr11:31,789,026...31,817,961
Ensembl chr11:31,784,779...31,817,961
JBrowse link
G PCDHB8 protocadherin beta 8 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21499247 NCBI chr 5:141,177,790...141,180,539
Ensembl chr 5:141,177,790...141,180,539
JBrowse link
G PDCD1 programmed cell death 1 treatment EXP
ISO
CTD Direct Evidence: therapeutic
associated with influenza
CTD
RGD
PMID:21802280 PMID:27760326 RGD:40818261 NCBI chr 2:241,849,881...241,858,908
Ensembl chr 2:241,849,884...241,858,894
JBrowse link
G PDGFRA platelet derived growth factor receptor alpha IAGP ClinVar Annotator: match by term: Melanoma ClinVar PMID:24132921 NCBI chr 4:54,229,127...54,298,245
Ensembl chr 4:54,229,280...54,298,245
JBrowse link
G PHGDH phosphoglycerate dehydrogenase EXP CTD Direct Evidence: marker/mechanism CTD PMID:21804546 NCBI chr 1:119,711,934...119,744,218
Ensembl chr 1:119,648,411...119,744,218
JBrowse link
G PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha IAGP ClinVar Annotator: match by term: MELANOMA, MALIGNANT, SOMATIC
ClinVar Annotator: match by term: Malignant melanoma, somatic
ClinVar PMID:15016963 PMID:15254419 PMID:15520168 PMID:15608678 PMID:15647370 More... NCBI chr 3:179,148,114...179,240,093
Ensembl chr 3:179,148,114...179,240,093
JBrowse link
G PIK3R1 phosphoinositide-3-kinase regulatory subunit 1 IAGP ClinVar Annotator: match by term: MELANOMA, MALIGNANT, SOMATIC ClinVar PMID:25157968 PMID:26619011 NCBI chr 5:68,215,737...68,301,821
Ensembl chr 5:68,215,756...68,301,821
JBrowse link
G PIP4K2A phosphatidylinositol-5-phosphate 4-kinase type 2 alpha EXP CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr10:22,534,854...22,714,578
Ensembl chr10:22,534,854...22,714,578
JBrowse link
G PKMYT1 protein kinase, membrane associated tyrosine/threonine 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr16:2,972,808...2,980,494
Ensembl chr16:2,968,024...2,980,479
JBrowse link
G PLCB4 phospholipase C beta 4 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21499247 NCBI chr20:9,068,678...9,480,808
Ensembl chr20:9,068,763...9,481,242
JBrowse link
G PMEL premelanosome protein EXP CTD Direct Evidence: marker/mechanism CTD PMID:26640592 NCBI chr12:55,954,105...55,966,709
Ensembl chr12:55,954,105...55,973,317
JBrowse link
G POMC proopiomelanocortin EXP CTD Direct Evidence: therapeutic CTD PMID:24412703 NCBI chr 2:25,160,860...25,168,580
Ensembl chr 2:25,160,853...25,168,903
JBrowse link
G POT1 protection of telomeres 1 EXP
IAGP
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: MELANOMA, MALIGNANT
CTD
ClinVar
PMID:24686846 PMID:24686849 PMID:28492532 NCBI chr 7:124,822,386...124,929,825
Ensembl chr 7:124,822,386...124,929,983
JBrowse link
G PPARD peroxisome proliferator activated receptor delta EXP CTD Direct Evidence: therapeutic CTD PMID:28962521 NCBI chr 6:35,342,558...35,428,180
Ensembl chr 6:35,342,558...35,428,191
JBrowse link
G PPARG peroxisome proliferator activated receptor gamma EXP CTD Direct Evidence: marker/mechanism|therapeutic CTD PMID:14512786 PMID:28962521 NCBI chr 3:12,287,368...12,434,344
Ensembl chr 3:12,287,368...12,434,356
JBrowse link
G PPARGC1A PPARG coactivator 1 alpha severity IEP mRNA:increased expression:tumor (human) RGD PMID:23416000 RGD:7241823 NCBI chr 4:23,792,021...24,472,905
Ensembl chr 4:23,755,041...23,904,089
JBrowse link
G PPP1R14B protein phosphatase 1 regulatory inhibitor subunit 14B EXP CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr11:64,244,479...64,246,943
Ensembl chr11:64,244,479...64,246,943
JBrowse link
G PPP6C protein phosphatase 6 catalytic subunit EXP CTD Direct Evidence: marker/mechanism CTD PMID:22842228 NCBI chr 9:125,146,573...125,189,803
Ensembl chr 9:125,146,573...125,189,939
JBrowse link
G PRAME PRAME nuclear receptor transcriptional regulator IEP
EXP
mRNA:increased expression:skin of body (human)
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:16179254 PMID:27505074 PMID:9047241 RGD:11535038, RGD:11535062 NCBI chr22:22,547,701...22,559,294
Ensembl chr22:22,547,701...22,559,361
JBrowse link
G PRDX2 peroxiredoxin 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:16778180 NCBI chr19:12,796,823...12,801,800
Ensembl chr19:12,796,820...12,801,800
JBrowse link
G PRSS23 serine protease 23 EXP CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr11:86,791,071...86,952,910
Ensembl chr11:86,791,059...86,952,910
JBrowse link
G PTEN phosphatase and tensin homolog TAS
IAGP
EXP
ClinVar Annotator: match by term: Melanoma
ClinVar Annotator: match by term: MELANOMA, MALIGNANT, SOMATIC
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
RGD
PMID:1097835 PMID:9467011 PMID:9915974 PMID:10866302 PMID:10978354 More... RGD:2290476 NCBI chr10:87,863,625...87,971,930
Ensembl chr10:87,863,625...87,971,930
JBrowse link
G PTER phosphotriesterase related EXP CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr10:16,436,943...16,517,962
Ensembl chr10:16,436,943...16,513,745
JBrowse link
G PTGS2 prostaglandin-endoperoxide synthase 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:17145863 PMID:17499752 PMID:18454317 NCBI chr 1:186,671,791...186,680,423
Ensembl chr 1:186,671,791...186,680,922
JBrowse link
G PTK2B protein tyrosine kinase 2 beta EXP CTD Direct Evidence: marker/mechanism CTD PMID:19718025 NCBI chr 8:27,311,478...27,459,391
Ensembl chr 8:27,311,482...27,459,391
JBrowse link
G PTPRK protein tyrosine phosphatase receptor type K EXP CTD Direct Evidence: marker/mechanism CTD PMID:22535842 PMID:22842228 NCBI chr 6:127,968,785...128,520,603
Ensembl chr 6:127,968,785...128,520,616
JBrowse link
G PTPRO protein tyrosine phosphatase receptor type O EXP CTD Direct Evidence: marker/mechanism CTD PMID:21499247 NCBI chr12:15,322,334...15,598,331
Ensembl chr12:15,322,257...15,602,175
JBrowse link
G QPCT glutaminyl-peptide cyclotransferase EXP CTD Direct Evidence: marker/mechanism CTD PMID:17145863 NCBI chr 2:37,344,630...37,373,322
Ensembl chr 2:37,342,827...37,373,322
JBrowse link
G RAC1 Rac family small GTPase 1 IAGP
EXP
ClinVar Annotator: match by term: MELANOMA, MALIGNANT, SOMATIC
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:22842228 PMID:25056119 PMID:26619011 NCBI chr 7:6,374,527...6,403,967
Ensembl chr 7:6,374,527...6,403,967
JBrowse link
G RAC2 Rac family small GTPase 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:17145863 NCBI chr22:37,225,270...37,244,269
Ensembl chr22:37,225,270...37,244,448
JBrowse link
G RAF1 Raf-1 proto-oncogene, serine/threonine kinase IAGP ClinVar Annotator: match by term: MELANOMA, MALIGNANT, SOMATIC
ClinVar Annotator: match by term: Malignant melanoma, somatic
ClinVar Annotator: match by term: Melanoma
ClinVar PMID:1760348 PMID:8601312 PMID:10064593 PMID:12077328 PMID:17603482 More... NCBI chr 3:12,583,601...12,664,117
Ensembl chr 3:12,583,601...12,664,125
JBrowse link
G RAI1 retinoic acid induced 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr17:17,681,376...17,811,453
Ensembl chr17:17,681,458...17,811,453
JBrowse link
G RAP1GAP RAP1 GTPase activating protein IEP
EXP
protein:decreased expression:epidermal melanocyte (human)
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:19147557 PMID:22614916 PMID:19147557 RGD:9835344 NCBI chr 1:21,596,221...21,669,413
Ensembl chr 1:21,596,215...21,669,363
JBrowse link
G RASA2 RAS p21 protein activator 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:26214590 PMID:26502337 NCBI chr 3:141,487,027...141,615,344
Ensembl chr 3:141,487,027...141,615,344
JBrowse link
G RAX retina and anterior neural fold homeobox EXP CTD Direct Evidence: marker/mechanism CTD PMID:16778180 NCBI chr18:59,267,038...59,273,454
Ensembl chr18:59,267,035...59,274,086
JBrowse link
G REC8 REC8 meiotic recombination protein EXP CTD Direct Evidence: marker/mechanism CTD PMID:16778180 NCBI chr14:24,171,931...24,180,408
Ensembl chr14:24,171,853...24,180,257
JBrowse link
G RFX6 regulatory factor X6 EXP CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr 6:116,877,218...116,932,163
Ensembl chr 6:116,877,212...116,932,161
JBrowse link
G RHOB ras homolog family member B ISO RGD PMID:12606940 RGD:704376 NCBI chr 2:20,447,074...20,449,440
Ensembl chr 2:20,447,074...20,449,440
JBrowse link
G RIN1 Ras and Rab interactor 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr11:66,330,241...66,336,774
Ensembl chr11:66,330,241...66,336,840
JBrowse link
G ROS1 ROS proto-oncogene 1, receptor tyrosine kinase EXP CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr 6:117,287,353...117,426,065
Ensembl chr 6:117,287,353...117,425,942
JBrowse link
G RPP38 ribonuclease P/MRP subunit p38 EXP CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr10:15,097,217...15,104,257
Ensembl chr10:15,097,180...15,139,818
JBrowse link
G RPS3 ribosomal protein S3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr11:75,399,518...75,422,302
Ensembl chr11:75,399,515...75,422,280
JBrowse link
G S100A4 S100 calcium binding protein A4 EXP CTD Direct Evidence: marker/mechanism CTD PMID:29179997 NCBI chr 1:153,543,621...153,545,806
Ensembl chr 1:153,543,613...153,550,136
JBrowse link
G SAC3D1 SAC3 domain containing 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr11:65,040,933...65,044,828
Ensembl chr11:65,040,901...65,044,828
JBrowse link
G SDHD succinate dehydrogenase complex subunit D EXP CTD Direct Evidence: marker/mechanism CTD PMID:25261935 NCBI chr11:112,086,873...112,095,794
Ensembl chr11:112,086,824...112,120,016
JBrowse link
G SETDB1 SET domain bifurcated histone lysine methyltransferase 1 severity IEP
EXP
protein:increased expression:dermis, subcutis, nucleus (human)
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:21983785 PMID:24673285 RGD:9590162 NCBI chr 1:150,926,263...150,964,737
Ensembl chr 1:150,926,263...150,964,744
JBrowse link
G SF1 splicing factor 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr11:64,764,606...64,778,769
Ensembl chr11:64,764,606...64,778,786
JBrowse link
G SIPA1 signal-induced proliferation-associated 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr11:65,638,101...65,650,930
Ensembl chr11:65,638,101...65,650,918
JBrowse link
G SLC15A2 solute carrier family 15 member 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:22842228 NCBI chr 3:121,894,401...121,944,188
Ensembl chr 3:121,894,401...121,944,188
JBrowse link
G SLC17A5 solute carrier family 17 member 5 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21499247 NCBI chr 6:73,593,379...73,653,992
Ensembl chr 6:73,593,379...73,653,992
JBrowse link
G SLC25A45 solute carrier family 25 member 45 EXP CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr11:65,375,192...65,383,701
Ensembl chr11:65,375,192...65,383,701
JBrowse link
G SLC35G2 solute carrier family 35 member G2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:16778180 NCBI chr 3:136,819,126...136,855,892
Ensembl chr 3:136,818,647...136,855,888
JBrowse link
G SLC39A12 solute carrier family 39 member 12 EXP CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr10:17,951,918...18,043,285
Ensembl chr10:17,951,839...18,043,292
JBrowse link
G SLC45A2 solute carrier family 45 member 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18563784 PMID:21559390 NCBI chr 5:33,944,623...33,984,693
Ensembl chr 5:33,944,623...33,984,693
JBrowse link
G SLC5A5 solute carrier family 5 member 5 EXP CTD Direct Evidence: therapeutic CTD PMID:12489024 NCBI chr19:17,871,394...17,895,175
Ensembl chr19:17,871,945...17,895,174
JBrowse link
G SLC6A11 solute carrier family 6 member 11 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21499247 NCBI chr 3:10,816,200...10,940,714
Ensembl chr 3:10,816,201...10,940,714
JBrowse link
G SNAPC5 small nuclear RNA activating complex polypeptide 5 IAGP ClinVar Annotator: match by term: Melanoma ClinVar PMID:22197931 NCBI chr15:66,489,748...66,497,762
Ensembl chr15:66,490,135...66,497,780
JBrowse link
G SOD2 superoxide dismutase 2 IEP protein:increased expression:serum: RGD PMID:8541726 RGD:8547533 NCBI chr 6:159,669,069...159,762,281
Ensembl chr 6:159,669,069...159,762,529
JBrowse link
G SOX2 SRY-box transcription factor 2 disease_progression IEP RGD PMID:21410764 RGD:8661664 NCBI chr 3:181,711,925...181,714,436
Ensembl chr 3:181,711,925...181,714,436
JBrowse link
G SPP1 secreted phosphoprotein 1 IDA RGD PMID:15757900 RGD:1581337 NCBI chr 4:87,975,714...87,983,411
Ensembl chr 4:87,975,667...87,983,532
JBrowse link
G STIP1 stress induced phosphoprotein 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr11:64,185,272...64,204,543
Ensembl chr11:64,185,272...64,204,543
JBrowse link
G STK11 serine/threonine kinase 11 IAGP ClinVar Annotator: match by term: MELANOMA, MALIGNANT
ClinVar Annotator: match by term: Malignant melanoma
ClinVar PMID:10201537 PMID:10208439 PMID:25157968 NCBI chr19:1,205,778...1,228,431
Ensembl chr19:1,177,558...1,228,431
JBrowse link
G STK19 serine/threonine kinase 19 IAGP ClinVar Annotator: match by term: MELANOMA, MALIGNANT, SOMATIC ClinVar PMID:26619011 NCBI chr 6:31,971,175...31,981,446
Ensembl chr 6:31,971,091...31,982,821
JBrowse link
G STX17 syntaxin 17 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18641652 NCBI chr 9:99,906,654...99,974,541
Ensembl chr 9:99,906,654...99,974,534
JBrowse link
G SUZ12 SUZ12 polycomb repressive complex 2 subunit EXP CTD Direct Evidence: marker/mechanism CTD PMID:25119042 NCBI chr17:31,937,007...32,001,040
Ensembl chr17:31,937,007...32,001,038
JBrowse link
G SYK spleen associated tyrosine kinase EXP CTD Direct Evidence: marker/mechanism CTD PMID:17145863 NCBI chr 9:90,801,600...90,898,549
Ensembl chr 9:90,801,787...90,898,549
JBrowse link
G SYT4 synaptotagmin 4 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21499247 NCBI chr18:43,267,892...43,277,490
Ensembl chr18:43,267,892...43,277,535
JBrowse link
G TAS2R60 taste 2 receptor member 60 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21499247 NCBI chr 7:143,443,453...143,444,409
Ensembl chr 7:143,443,453...143,444,409
JBrowse link
G TERC telomerase RNA component IEP RNA:increased expression:plasma RGD PMID:14654933 RGD:2291969 NCBI chr 3:169,764,610...169,765,060
Ensembl chr 3:169,764,610...169,765,047
Ensembl chr 3:169,764,610...169,765,047
JBrowse link
G TERT telomerase reverse transcriptase IEP
EXP
mRNA:increased expression:plasma
CTD Direct Evidence: therapeutic
CTD
RGD
PMID:20856939 PMID:14654933 RGD:2291969 NCBI chr 5:1,253,167...1,295,068
Ensembl chr 5:1,253,147...1,295,068
JBrowse link
G TFPI2 tissue factor pathway inhibitor 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:17372906 NCBI chr 7:93,885,396...93,890,753
Ensembl chr 7:93,885,396...93,890,753
JBrowse link
G TLR4 toll like receptor 4 IAGP
EXP
DNA:polymorphisms:exons:p.D299G (896A>G)(human;)
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:22842228 PMID:22552381 RGD:7777154 NCBI chr 9:117,704,403...117,724,735
Ensembl chr 9:117,704,175...117,724,735
JBrowse link
G TMEM132B transmembrane protein 132B EXP CTD Direct Evidence: marker/mechanism CTD PMID:21499247 NCBI chr12:125,186,386...125,662,377
Ensembl chr12:125,186,386...125,662,377
JBrowse link
G TMEM30B transmembrane protein 30B EXP CTD Direct Evidence: marker/mechanism CTD PMID:16778180 NCBI chr14:61,277,370...61,281,338
Ensembl chr14:61,277,370...61,281,761
JBrowse link
G TNC tenascin C EXP CTD Direct Evidence: marker/mechanism CTD PMID:22842228 NCBI chr 9:115,019,575...115,118,244
Ensembl chr 9:115,019,575...115,118,257
JBrowse link
G TNF tumor necrosis factor EXP CTD Direct Evidence: therapeutic CTD PMID:9794839 PMID:9843018 PMID:10379864 PMID:18388930 NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336
JBrowse link
G TNFRSF19 TNF receptor superfamily member 19 EXP CTD Direct Evidence: marker/mechanism CTD PMID:17187358 NCBI chr13:23,570,248...23,676,093
Ensembl chr13:23,570,370...23,676,104
JBrowse link
G TP53 tumor protein p53 IDA
IAGP
EXP
ClinVar Annotator: match by term: Malignant melanoma, somatic
ClinVar Annotator: match by term: Melanoma
ClinVar Annotator: match by term: MELANOMA, MALIGNANT, SOMATIC
CTD Direct Evidence: marker/mechanism
DNA:polymorphism:cds:p.R72P(human)
ClinVar
CTD
RGD
PMID:1349175 PMID:1359493 PMID:1565143 PMID:1565144 PMID:1569604 More... RGD:8547796, RGD:8547833 NCBI chr17:7,668,421...7,687,490
Ensembl chr17:7,661,779...7,687,538
JBrowse link
G TRRAP transformation/transcription domain associated protein EXP CTD Direct Evidence: marker/mechanism CTD PMID:21499247 NCBI chr 7:98,878,532...99,013,241
Ensembl chr 7:98,877,933...99,050,831
JBrowse link
G TSPYL4 TSPY like 4 EXP CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr 6:116,249,964...116,254,075
Ensembl chr 6:116,249,964...116,254,075
JBrowse link
G TYR tyrosinase disease_progression IEP
EXP
IDA
CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:18488027 PMID:19578364 PMID:21559390 PMID:26640592 PMID:8609659 More... RGD:8694384, RGD:8694387 NCBI chr11:89,177,565...89,295,759
Ensembl chr11:89,177,875...89,295,759
JBrowse link
G TYRP1 tyrosinase related protein 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:26640592 NCBI chr 9:12,693,375...12,710,285
Ensembl chr 9:12,685,439...12,710,285
JBrowse link
G UGT2B10 UDP glucuronosyltransferase family 2 member B10 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21499247 NCBI chr 4:68,815,994...68,832,038
Ensembl chr 4:68,815,994...68,832,023
JBrowse link
G USP6NL USP6 N-terminal like EXP CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr10:11,460,510...11,611,650
Ensembl chr10:11,453,946...11,611,754
JBrowse link
G VDR vitamin D receptor severity
disease_progression
IAGP DNA:SNP:promoter:rs4516035 (human)
DNA:SNPs:exons: (rs731236, rs2228570) (human)
RGD PMID:19105801 PMID:10690530 RGD:8158067, RGD:8158068 NCBI chr12:47,841,537...47,905,022
Ensembl chr12:47,841,537...47,943,048
JBrowse link
G VEGFA vascular endothelial growth factor A disease_progression IEP RGD PMID:12946796 RGD:7421569 NCBI chr 6:43,770,209...43,786,487
Ensembl chr 6:43,770,184...43,786,487
JBrowse link
G VEGFC vascular endothelial growth factor C EXP CTD Direct Evidence: marker/mechanism CTD PMID:17562445 NCBI chr 4:176,683,538...176,792,922
Ensembl chr 4:176,683,538...176,792,922
JBrowse link
G VGLL2 vestigial like family member 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr 6:117,265,558...117,273,565
Ensembl chr 6:117,265,558...117,273,565
JBrowse link
G WDR74 WD repeat domain 74 EXP CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr11:62,832,905...62,841,809
Ensembl chr11:62,832,342...62,841,809
JBrowse link
G WFDC1 WAP four-disulfide core domain 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:17145863 NCBI chr16:84,292,233...84,329,850
Ensembl chr16:84,294,846...84,329,844
JBrowse link
G XRCC3 X-ray repair cross complementing 3 IEA
EXP
CTD Direct Evidence: marker/mechanism CTD PMID:11059748 PMID:15118671 RGD:1331525 NCBI chr14:103,697,611...103,715,486
Ensembl chr14:103,697,609...103,715,504
JBrowse link
G ZNF438 zinc finger protein 438 EXP CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr10:30,841,254...31,032,407
Ensembl chr10:30,820,207...31,031,937
JBrowse link
G ZNF831 zinc finger protein 831 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21499247 NCBI chr20:59,123,388...59,259,113
Ensembl chr20:59,123,381...59,259,113
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 IAGP ClinVar Annotator: match by term: Melanoma astrocytoma syndrome
ClinVar Annotator: match by term: Melanoma and neural system tumor syndrome
ClinVar
OMIM
PMID:7566978 PMID:7647780 PMID:7718873 PMID:7987387 PMID:8570179 More... NCBI chr 9:21,967,752...21,995,324
Ensembl chr 9:21,967,752...21,995,301
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 IAGP ClinVar Annotator: match by term: Melanoma-pancreatic cancer syndrome
ClinVar Annotator: match by term: FAMILIAL ATYPICAL MULTIPLE MOLE MELANOMA-PANCREATIC CARCINOMA SYNDROME
ClinVar
OMIM
PMID:7566978 PMID:7632931 PMID:7647780 PMID:7666917 PMID:7670475 More... NCBI chr 9:21,967,752...21,995,324
Ensembl chr 9:21,967,752...21,995,301
JBrowse link
Nevus term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BRAF B-Raf proto-oncogene, serine/threonine kinase no_association IAGP DNA:mutation:cds:p.V600E(human)
DNA:mutation: :T1796A(human)
RGD PMID:25490715 PMID:14984580 RGD:11567234, RGD:11567261 NCBI chr 7:140,713,328...140,924,929
Ensembl chr 7:140,719,327...140,924,929
JBrowse link
G MTAP methylthioadenosine phosphorylase EXP CTD Direct Evidence: marker/mechanism CTD PMID:19578365 NCBI chr 9:21,802,636...21,867,081
Ensembl chr 9:21,802,636...21,937,651
JBrowse link
G PLA2G6 phospholipase A2 group VI EXP CTD Direct Evidence: marker/mechanism CTD PMID:19578365 NCBI chr22:38,111,495...38,181,830
Ensembl chr22:38,111,495...38,214,778
JBrowse link
Nevus Comedonicus term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NEK9 NIMA related kinase 9 IAGP ClinVar Annotator: match by term: Nevus comedonicus ClinVar
OMIM
PMID:27153399 NCBI chr14:75,079,353...75,127,637
Ensembl chr14:75,079,353...75,127,344
JBrowse link
Nevus, Epithelioid and Spindle Cell term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BAP1 BRCA1 associated protein 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:25231345 NCBI chr 3:52,401,004...52,410,030
Ensembl chr 3:52,401,008...52,410,008
JBrowse link
Pigmented Nevus term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HRAS HRas proto-oncogene, GTPase IAGP ClinVar Annotator: match by term: PIGMENTED MOLES ClinVar PMID:16170316 PMID:16329078 PMID:16372351 PMID:16443854 PMID:16835863 More... NCBI chr11:532,242...535,576
Ensembl chr11:532,242...537,321
JBrowse link
G LRRC56 leucine rich repeat containing 56 IAGP ClinVar Annotator: match by term: PIGMENTED MOLES ClinVar PMID:16170316 PMID:16329078 PMID:16372351 PMID:16443854 PMID:16835863 More... NCBI chr11:518,967...554,916
Ensembl chr11:537,527...554,912
JBrowse link
G NF1 neurofibromin 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:25119042 NCBI chr17:31,094,927...31,377,677
Ensembl chr17:31,094,927...31,382,116
JBrowse link
G NRAS NRAS proto-oncogene, GTPase IAGP ClinVar Annotator: match by term: PIGMENTED MOLES ClinVar PMID:1654209 PMID:2278970 PMID:2674680 PMID:3102434 PMID:3122217 More... NCBI chr 1:114,704,469...114,716,771
Ensembl chr 1:114,704,469...114,716,771
JBrowse link
G SUZ12 SUZ12 polycomb repressive complex 2 subunit EXP CTD Direct Evidence: marker/mechanism CTD PMID:25119042 NCBI chr17:31,937,007...32,001,040
Ensembl chr17:31,937,007...32,001,038
JBrowse link
Sebaceous Nevus Syndrome and Hemimegalencephaly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HRAS HRas proto-oncogene, GTPase IAGP ClinVar Annotator: match by term: Sebaceous nevus syndrome and hemimegalencephaly ClinVar PMID:12835555 PMID:16170316 PMID:16329078 PMID:16372351 PMID:16443854 More... NCBI chr11:532,242...535,576
Ensembl chr11:532,242...537,321
JBrowse link
G KRAS KRAS proto-oncogene, GTPase IAGP ClinVar Annotator: match by term: Sebaceous nevus syndrome and hemimegalencephaly ClinVar PMID:2278970 PMID:3122217 PMID:7773929 PMID:8439212 PMID:12460918 More... NCBI chr12:25,205,246...25,250,929
Ensembl chr12:25,205,246...25,250,936
JBrowse link
G LRRC56 leucine rich repeat containing 56 IAGP ClinVar Annotator: match by term: Sebaceous nevus syndrome and hemimegalencephaly ClinVar PMID:12835555 PMID:16170316 PMID:16329078 PMID:16372351 PMID:16443854 More... NCBI chr11:518,967...554,916
Ensembl chr11:537,527...554,912
JBrowse link
G NRAS NRAS proto-oncogene, GTPase IAGP ClinVar Annotator: match by term: Sebaceous nevus syndrome and hemimegalencephaly ClinVar PMID:1654209 PMID:2278970 PMID:2674680 PMID:3122217 PMID:6587382 More... NCBI chr 1:114,704,469...114,716,771
Ensembl chr 1:114,704,469...114,716,771
JBrowse link
skin melanoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AGT angiotensinogen IEP protein:increased expression:serum RGD PMID:19394758 RGD:8548874 NCBI chr 1:230,702,523...230,745,583
Ensembl chr 1:230,690,776...230,745,576
JBrowse link
G AKT1 AKT serine/threonine kinase 1 IAGP ClinVar Annotator: match by term: Malignant melanoma of skin ClinVar PMID:17611497 PMID:18256540 PMID:18392055 PMID:18504432 PMID:18611285 More... NCBI chr14:104,769,349...104,795,748
Ensembl chr14:104,769,349...104,795,751
JBrowse link
G ARAF A-Raf proto-oncogene, serine/threonine kinase IAGP ClinVar Annotator: match by term: Malignant melanoma of skin ClinVar PMID:24569458 PMID:26619011 NCBI chr  X:47,561,205...47,571,908
Ensembl chr  X:47,561,205...47,571,908
JBrowse link
G B2M beta-2-microglobulin IAGP ClinVar Annotator: match by term: Malignant melanoma of skin ClinVar PMID:26619011 NCBI chr15:44,711,492...44,718,145
Ensembl chr15:44,711,487...44,718,851
JBrowse link
G BAP1 BRCA1 associated protein 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:25231345 PMID:26719535 NCBI chr 3:52,401,004...52,410,030
Ensembl chr 3:52,401,008...52,410,008
JBrowse link
G BCL2L12 BCL2 like 12 IAGP ClinVar Annotator: match by term: Malignant melanoma of skin ClinVar PMID:26619011 NCBI chr19:49,664,834...49,673,916
Ensembl chr19:49,665,142...49,673,916
JBrowse link
G BRAF B-Raf proto-oncogene, serine/threonine kinase IAGP ClinVar Annotator: match by term: Cutaneous melanoma
ClinVar Annotator: match by term: Malignant melanoma of skin
ClinVar PMID:2493360 PMID:12068308 PMID:12198537 PMID:12438234 PMID:12447372 More... NCBI chr 7:140,713,328...140,924,929
Ensembl chr 7:140,719,327...140,924,929
JBrowse link
G BRCA2 BRCA2 DNA repair associated disease_progression IAGP DNA:SNP: :rs206118, rs3752447, rs10492396 (human) RGD PMID:25243787 RGD:11344896 NCBI chr13:32,315,508...32,400,268
Ensembl chr13:32,315,086...32,400,268
JBrowse link
G CCL2 C-C motif chemokine ligand 2 disease_progression IAGP DNA:SNP: :2578A>G (human) RGD PMID:17169533 RGD:9491398 NCBI chr17:34,255,285...34,257,203
Ensembl chr17:34,255,218...34,257,203
JBrowse link
G CD40 CD40 molecule disease_progression IEP RGD PMID:8952530 RGD:8547772 NCBI chr20:46,118,242...46,129,858
Ensembl chr20:46,118,278...46,129,863
JBrowse link
G CDK4 cyclin dependent kinase 4 IAGP ClinVar Annotator: match by term: Malignant melanoma of skin ClinVar PMID:5377176 PMID:7652577 PMID:8528263 PMID:8968104 PMID:9228064 More... NCBI chr12:57,747,727...57,752,310
Ensembl chr12:57,747,727...57,756,013
JBrowse link
G CDKN2A cyclin dependent kinase inhibitor 2A IAGP
EXP
DNA:frameshift mutations, deletions:cds:multiple (human)
ClinVar Annotator: match by term: Cutaneous melanoma
ClinVar Annotator: match by term: Malignant melanoma of skin
CTD Direct Evidence: marker/mechanism
DNA:missense mutation:exon:p.P48L (human)
ClinVar
CTD
RGD
PMID:7566978 PMID:7647780 PMID:7666917 PMID:7777061 PMID:7780957 More... RGD:8552276, RGD:8552302 NCBI chr 9:21,967,752...21,995,324
Ensembl chr 9:21,967,752...21,995,301
JBrowse link
G CHAF1B chromatin assembly factor 1 subunit B severity IEP protein:increased expression:skin: RGD PMID:20178651 RGD:9587476 NCBI chr21:36,380,145...36,419,015
Ensembl chr21:36,385,392...36,419,015
JBrowse link
G CNOT9 CCR4-NOT transcription complex subunit 9 IAGP ClinVar Annotator: match by term: Malignant melanoma of skin ClinVar PMID:26619011 NCBI chr 2:218,568,578...218,597,080
Ensembl chr 2:218,568,580...218,597,080
JBrowse link
G CNR1 cannabinoid receptor 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:28131817 NCBI chr 6:88,139,864...88,167,349
Ensembl chr 6:88,139,864...88,166,347
JBrowse link
G CREB1 cAMP responsive element binding protein 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:29179997 NCBI chr 2:207,529,943...207,605,988
Ensembl chr 2:207,529,737...207,605,988
JBrowse link
G CREBBP CREB binding protein IAGP ClinVar Annotator: match by term: Malignant melanoma of skin ClinVar PMID:21390126 PMID:21680795 PMID:21796119 PMID:22832583 PMID:23334668 More... NCBI chr16:3,725,054...3,880,727
Ensembl chr16:3,725,054...3,880,713
JBrowse link
G CRNKL1 crooked neck pre-mRNA splicing factor 1 IAGP ClinVar Annotator: match by term: Malignant melanoma of skin ClinVar PMID:26619011 NCBI chr20:20,034,368...20,056,046
Ensembl chr20:20,034,368...20,056,046
JBrowse link
G CTNNB1 catenin beta 1 IAGP ClinVar Annotator: match by term: Cutaneous melanoma
ClinVar Annotator: match by term: Malignant melanoma of skin
ClinVar PMID:9065402 PMID:9065403 PMID:9294210 PMID:9500465 PMID:9927029 More... NCBI chr 3:41,199,422...41,240,445
Ensembl chr 3:41,194,741...41,260,096
JBrowse link
G DNMT3B DNA methyltransferase 3 beta disease_progression IEP RGD PMID:21081840 RGD:9589074 NCBI chr20:32,762,385...32,809,356
Ensembl chr20:32,762,385...32,809,356
JBrowse link
G ERBB2 erb-b2 receptor tyrosine kinase 2 IAGP ClinVar Annotator: match by term: Malignant melanoma of skin ClinVar PMID:18413839 PMID:22046346 PMID:23220880 PMID:25157968 PMID:26619011 NCBI chr17:39,688,094...39,728,660
Ensembl chr17:39,687,914...39,730,426
JBrowse link
G EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit IAGP ClinVar Annotator: match by term: Malignant melanoma of skin ClinVar PMID:23023262 PMID:24563539 PMID:26619011 NCBI chr 7:148,807,374...148,884,344
Ensembl chr 7:148,807,257...148,884,321
JBrowse link
G FANCA FA complementation group A disease_progression IAGP DNA:SNP: :rs62068372 (human) RGD PMID:25243787 RGD:11344896 NCBI chr16:89,737,549...89,816,647
Ensembl chr16:89,737,549...89,816,657
JBrowse link
G FANCD2 FA complementation group D2 IEP mRNA,protein:increased expression:skin,nucleus: RGD PMID:21697891 RGD:11046262 NCBI chr 3:10,026,437...10,101,932
Ensembl chr 3:10,026,370...10,101,932
JBrowse link
G FBN1 fibrillin 1 IAGP ClinVar Annotator: match by term: Cutaneous melanoma ClinVar PMID:7611299 PMID:8894692 PMID:9401003 PMID:9536098 PMID:10533071 More... NCBI chr15:48,408,313...48,645,709
Ensembl chr15:48,408,313...48,645,721
JBrowse link
G FBXW7 F-box and WD repeat domain containing 7 IAGP ClinVar Annotator: match by term: Malignant melanoma of skin ClinVar PMID:25741868 PMID:26619011 NCBI chr 4:152,320,544...152,536,873
Ensembl chr 4:152,320,544...152,536,092
JBrowse link
G GNA11 G protein subunit alpha 11 IAGP ClinVar Annotator: match by term: Cutaneous melanoma ClinVar PMID:1328859 PMID:2549426 PMID:21083380 PMID:21444680 PMID:22733540 More... NCBI chr19:3,094,362...3,123,999
Ensembl chr19:3,094,362...3,123,999
JBrowse link
G GNAS GNAS complex locus IAGP ClinVar Annotator: match by term: Malignant melanoma of skin ClinVar PMID:1594625 PMID:1944469 PMID:2549426 PMID:3720010 PMID:7739708 More... NCBI chr20:58,839,681...58,911,192
Ensembl chr20:58,839,718...58,911,192
JBrowse link
G GRM1 glutamate metabotropic receptor 1 ISS OMIM:155601 | OMIM:608035 | OMIM:609048 | OMIM:612263 | OMIM:613099 | OMIM:613972 | OMIM:614456 | OMIM:615134 | OMIM:615848 MouseDO NCBI chr 6:146,027,634...146,437,601
Ensembl chr 6:146,027,646...146,437,601
JBrowse link
G GSTM1 glutathione S-transferase mu 1 susceptibility IAGP DNA:deletion:: (human) RGD PMID:11352862 RGD:12792221 NCBI chr 1:109,687,817...109,693,745
Ensembl chr 1:109,687,814...109,709,039
JBrowse link
G GSTT1 glutathione S-transferase theta 1 susceptibility IAGP DNA:deletion:: (human) RGD PMID:11352862 RGD:12792221
G HIF1A hypoxia inducible factor 1 subunit alpha IEP protein:increased expression:epidermis (human) RGD PMID:19558170 RGD:8695922 NCBI chr14:61,695,513...61,748,258
Ensembl chr14:61,695,513...61,748,259
JBrowse link
G HRAS HRas proto-oncogene, GTPase IAGP ClinVar Annotator: match by term: Malignant melanoma of skin ClinVar PMID:1904555 PMID:3510078 PMID:11150980 PMID:12835555 PMID:16155195 More... NCBI chr11:532,242...535,576
Ensembl chr11:532,242...537,321
JBrowse link
G ICAM1 intercellular adhesion molecule 1 disease_progression IAGP DNA:missense mutation:exon:p.R241G (human) RGD PMID:16313300 RGD:8547698 NCBI chr19:10,271,120...10,286,615
Ensembl chr19:10,271,093...10,286,615
JBrowse link
G IDH1 isocitrate dehydrogenase (NADP(+)) 1 IAGP ClinVar Annotator: match by term: Malignant melanoma of skin ClinVar PMID:18772396 PMID:19657110 PMID:19798509 PMID:19818334 PMID:20946881 More... NCBI chr 2:208,236,227...208,255,071
Ensembl chr 2:208,236,229...208,266,074
JBrowse link
G JMJD6 jumonji domain containing 6, arginine demethylase and lysine hydroxylase EXP CTD Direct Evidence: marker/mechanism CTD PMID:30619488 NCBI chr17:76,712,830...76,726,783
Ensembl chr17:76,712,832...76,726,799
JBrowse link
G KIT KIT proto-oncogene, receptor tyrosine kinase IAGP ClinVar Annotator: match by term: Cutaneous melanoma
ClinVar Annotator: match by term: Malignant melanoma of skin
ClinVar PMID:7513208 PMID:7530509 PMID:8589724 PMID:9438854 PMID:9657776 More... NCBI chr 4:54,657,957...54,740,715
Ensembl chr 4:54,657,918...54,740,715
JBrowse link
G KNSTRN kinetochore localized astrin (SPAG5) binding protein IAGP ClinVar Annotator: match by term: Malignant melanoma of skin ClinVar PMID:26619011 NCBI chr15:40,382,721...40,394,288
Ensembl chr15:40,382,721...40,394,246
JBrowse link
G KRAS KRAS proto-oncogene, GTPase IAGP ClinVar Annotator: match by term: Malignant melanoma of skin ClinVar PMID:2278970 PMID:3122217 PMID:12460918 PMID:15696205 PMID:16361624 More... NCBI chr12:25,205,246...25,250,929
Ensembl chr12:25,205,246...25,250,936
JBrowse link
G LRRC56 leucine rich repeat containing 56 IAGP ClinVar Annotator: match by term: Malignant melanoma of skin ClinVar PMID:1904555 PMID:3510078 PMID:11150980 PMID:12835555 PMID:16155195 More... NCBI chr11:518,967...554,916
Ensembl chr11:537,527...554,912
JBrowse link
G MAP2K1 mitogen-activated protein kinase kinase 1 IAGP ClinVar Annotator: match by term: Cutaneous melanoma
ClinVar Annotator: match by term: Malignant melanoma of skin
ClinVar PMID:7651428 PMID:17366577 PMID:17551924 PMID:17704260 PMID:18060073 More... NCBI chr15:66,386,912...66,491,544
Ensembl chr15:66,386,837...66,491,544
JBrowse link
G MAP2K2 mitogen-activated protein kinase kinase 2 IAGP ClinVar Annotator: match by term: Malignant melanoma of skin ClinVar PMID:18042262 PMID:26619011 NCBI chr19:4,090,321...4,124,184
Ensembl chr19:4,090,321...4,124,122
JBrowse link
G MC1R melanocortin 1 receptor IAGP ClinVar Annotator: match by term: Cutaneous melanoma ClinVar PMID:7581459 PMID:17616515 PMID:18366057 PMID:21128237 PMID:23647022 More... NCBI chr16:89,918,862...89,920,972
Ensembl chr16:89,912,119...89,920,973
JBrowse link
G MITF melanocyte inducing transcription factor EXP
IAGP
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cutaneous melanoma
CTD
ClinVar
PMID:2440678 PMID:22012259 PMID:22080950 PMID:22158021 PMID:23167872 More... NCBI chr 3:69,739,464...69,968,332
Ensembl chr 3:69,739,464...69,968,336
JBrowse link
G MMP1 matrix metallopeptidase 1 disease_progression IAGP DNA:polymorphisms, haplotypes:promoter:multiple
DNA:SNPs, haplotype:promoter:multiple
RGD PMID:20655738 PMID:22198560 RGD:8549726, RGD:8549727 NCBI chr11:102,789,919...102,798,160
Ensembl chr11:102,789,401...102,798,160
JBrowse link
G MMP2 matrix metallopeptidase 2 severity IEP mRNA:increased expression:skin RGD PMID:20966734 PMID:12404291 PMID:18251742 RGD:8657055, RGD:13204786, RGD:8657075 NCBI chr16:55,478,830...55,506,691
Ensembl chr16:55,389,700...55,506,691
JBrowse link
G MMP9 matrix metallopeptidase 9 disease progression IAGP
IEP
DNA:SNP, missense mutations:promoter, cds:-1562C>T,p.R279Q, p.P574R (human) RGD PMID:17346338 PMID:12404291 RGD:8547886, RGD:13204786 NCBI chr20:46,008,908...46,016,561
Ensembl chr20:46,008,908...46,016,561
JBrowse link
G MTOR mechanistic target of rapamycin kinase IAGP ClinVar Annotator: match by term: Malignant melanoma of skin ClinVar PMID:24631838 PMID:26018084 PMID:26619011 PMID:27159400 PMID:27830187 NCBI chr 1:11,106,535...11,273,497
Ensembl chr 1:11,106,535...11,262,551
JBrowse link
G MYC MYC proto-oncogene, bHLH transcription factor IAGP ClinVar Annotator: match by term: Malignant melanoma of skin ClinVar PMID:25157968 PMID:26619011 NCBI chr 8:127,735,434...127,742,951
Ensembl chr 8:127,735,434...127,742,951
JBrowse link
G NRAS NRAS proto-oncogene, GTPase IAGP ClinVar Annotator: match by term: Cutaneous melanoma
ClinVar Annotator: match by term: Malignant melanoma of skin
ClinVar PMID:1654209 PMID:2278970 PMID:2407301 PMID:2674680 PMID:2989702 More... NCBI chr 1:114,704,469...114,716,771
Ensembl chr 1:114,704,469...114,716,771
JBrowse link
G OCA2 OCA2 melanosomal transmembrane protein susceptibility IAGP DNA:snp:cds:p.R419Q (rs1800407) (human)
DNA:missense mutation:cds:p.H615R (rs1800414) (human)
DNA:snps:exon, intron:multiple (human)
RGD PMID:19710684 PMID:24617981 PMID:15889046 RGD:9491818, RGD:9491831, RGD:9491829 NCBI chr15:27,719,008...28,099,342
Ensembl chr15:27,754,875...28,099,315
JBrowse link
G PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha IAGP 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 3:179,148,114...179,240,093
Ensembl chr 3:179,148,114...179,240,093
JBrowse link
G PIK3R1 phosphoinositide-3-kinase regulatory subunit 1 IAGP ClinVar Annotator: match by term: Malignant melanoma of skin ClinVar PMID:19962457 PMID:25157968 PMID:26619011 NCBI chr 5:68,215,737...68,301,821
Ensembl chr 5:68,215,756...68,301,821
JBrowse link
G POT1 protection of telomeres 1 IAGP ClinVar Annotator: match by term: DYSPLASTIC NEVUS SYNDROME, HEREDITARY ClinVar PMID:24686846 PMID:28492532 NCBI chr 7:124,822,386...124,929,825
Ensembl chr 7:124,822,386...124,929,983
JBrowse link
G PPP6C protein phosphatase 6 catalytic subunit IAGP ClinVar Annotator: match by term: Malignant melanoma of skin ClinVar PMID:26619011 NCBI chr 9:125,146,573...125,189,803
Ensembl chr 9:125,146,573...125,189,939
JBrowse link
G PTEN phosphatase and tensin homolog IAGP ClinVar Annotator: match by term: Malignant melanoma of skin ClinVar PMID:9467011 PMID:9915974 PMID:10866302 PMID:11504908 PMID:11875759 More... NCBI chr10:87,863,625...87,971,930
Ensembl chr10:87,863,625...87,971,930
JBrowse link
G RAC1 Rac family small GTPase 1 IAGP ClinVar Annotator: match by term: Cutaneous melanoma
ClinVar Annotator: match by term: Malignant melanoma of skin
ClinVar PMID:25056119 PMID:26619011 NCBI chr 7:6,374,527...6,403,967
Ensembl chr 7:6,374,527...6,403,967
JBrowse link
G RAF1 Raf-1 proto-oncogene, serine/threonine kinase IAGP ClinVar Annotator: match by term: Malignant melanoma of skin ClinVar PMID:1760348 PMID:8601312 PMID:10064593 PMID:12077328 PMID:17603482 More... NCBI chr 3:12,583,601...12,664,117
Ensembl chr 3:12,583,601...12,664,125
JBrowse link
G SF3B1 splicing factor 3b subunit 1 IAGP ClinVar Annotator: match by term: Malignant melanoma of skin ClinVar PMID:23634996 PMID:26619011 NCBI chr 2:197,389,784...197,435,093
Ensembl chr 2:197,388,515...197,435,079
JBrowse link
G SF3B2 splicing factor 3b subunit 2 IAGP ClinVar Annotator: match by term: Malignant melanoma of skin ClinVar PMID:26619011 NCBI chr11:66,052,361...66,069,308
Ensembl chr11:66,050,729...66,069,308
JBrowse link
G SLC45A2 solute carrier family 45 member 2 IAGP ClinVar Annotator: match by term: Malignant melanoma of skin ClinVar PMID:15714523 PMID:17044855 PMID:17999355 PMID:18563784 PMID:18683857 More... NCBI chr 5:33,944,623...33,984,693
Ensembl chr 5:33,944,623...33,984,693
JBrowse link
G STAT3 signal transducer and activator of transcription 3 disease_progression IEP RGD PMID:21876460 RGD:8694297 NCBI chr17:42,313,324...42,388,502
Ensembl chr17:42,313,324...42,388,540
JBrowse link
G STK11 serine/threonine kinase 11 IAGP ClinVar Annotator: match by term: FAMILIAL ATYPICAL MOLE-MALIGNANT MELANOMA SYNDROME ClinVar PMID:10201537 PMID:10208439 PMID:25157968 NCBI chr19:1,205,778...1,228,431
Ensembl chr19:1,177,558...1,228,431
JBrowse link
G STK19 serine/threonine kinase 19 IAGP ClinVar Annotator: match by term: Malignant melanoma of skin ClinVar PMID:26619011 NCBI chr 6:31,971,175...31,981,446
Ensembl chr 6:31,971,091...31,982,821
JBrowse link
G TP53 tumor protein p53 IAGP ClinVar Annotator: match by term: Malignant melanoma of skin
ClinVar Annotator: match by term: Cutaneous melanoma
ClinVar PMID:1349175 PMID:1359493 PMID:1565143 PMID:1565144 PMID:1569604