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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 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21874003 NCBI chr13:34,544,570...34,553,538
Ensembl chr13:34,544,575...34,553,621
JBrowse link
amelanotic melanoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IFNB1 interferon beta 1 ISO CTD Direct Evidence: therapeutic CTD PMID:15990972 NCBI chr 1:201,850,935...201,851,495
Ensembl chr 1:201,850,935...201,851,495
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 ISO ClinVar Annotator: match by term: Blue rubber bleb nevus ClinVar NCBI chr 4:124,773,957...124,813,336
Ensembl chr 4:124,773,979...124,813,337
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 ISO ClinVar Annotator: match by term: CLOVE SYNDROME ClinVar PMID:25741868 PMID:27476652 NCBI chr 2:75,439,405...75,456,855
Ensembl chr 2:75,437,201...75,457,092
JBrowse link
G PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha ISO OMIM NCBI chr13:117,193,935...117,282,151
Ensembl chr13:117,180,544...117,277,232
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 ISO OMIM NCBI chr18:8,957,963...9,132,558
Ensembl chr18:8,957,959...9,132,553
JBrowse link
G POT1 protection of telomeres 1 ISO ClinVar Annotator: match by term: DYSPLASTIC NEVUS SYNDROME, HEREDITARY ClinVar PMID:24686846 PMID:28492532 NCBI chr18:22,885,704...22,981,893
Ensembl chr18:22,827,029...22,981,890
JBrowse link
G STK11 serine/threonine kinase 11 ISO OMIM NCBI chr 2:77,229,888...77,249,322
Ensembl chr 2:77,230,372...77,249,327
JBrowse link
dysplastic nevus syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G P14ARF p14ARF protein ISO DNA:missense mutation:exon:p.P48L (human) RGD PMID:10338331 RGD:8552302 NCBI chr 1:200,774,496...200,799,149
Ensembl chr 1:200,774,496...200,798,854
JBrowse link
G POT1 protection of telomeres 1 ISO ClinVar Annotator: match by term: B-K MOLE SYNDROME ClinVar PMID:24686846 PMID:28492532 NCBI chr18:22,885,704...22,981,893
Ensembl chr18:22,827,029...22,981,890
JBrowse link
G STK11 serine/threonine kinase 11 ISO ClinVar Annotator: match by term: B-K MOLE SYNDROME ClinVar PMID:10201537 PMID:10208439 PMID:25157968 NCBI chr 2:77,229,888...77,249,322
Ensembl chr 2:77,230,372...77,249,327
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 ISO OMIM NCBI chr 8:879,151...894,968
Ensembl chr 8:879,151...895,912
JBrowse link
G HRAS HRas proto-oncogene, GTPase ISO OMIM NCBI chr 2:299,662...302,539
Ensembl chr 2:299,660...302,501
JBrowse link
G KRAS KRAS proto-oncogene, GTPase ISO 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 chr 5:48,508,774...48,546,260
Ensembl chr 5:48,508,790...48,549,346
JBrowse link
G LRRC56 leucine rich repeat containing 56 ISO 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 chr 2:303,836...323,701
Ensembl chr 2:304,429...323,700
JBrowse link
G NRAS NRAS proto-oncogene, GTPase ISO OMIM NCBI chr 4:105,845,913...105,853,769
Ensembl chr 4:105,845,872...105,858,227
JBrowse link
G PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha ISO OMIM NCBI chr13:117,193,935...117,282,151
Ensembl chr13:117,180,544...117,277,232
JBrowse link
Experimental Melanoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACSS1 acyl-CoA synthetase short chain family member 1 treatment ISO RGD PMID:27539851 RGD:13831304 NCBI chr17:30,800,536...30,839,799
Ensembl chr17:30,800,426...30,839,742
JBrowse link
G ACSS2 acyl-CoA synthetase short chain family member 2 treatment ISO RGD PMID:27539851 RGD:13831304 NCBI chr17:38,260,152...38,315,764
Ensembl chr17:38,260,147...38,315,758
JBrowse link
G ANTXR1 ANTXR cell adhesion molecule 1 treatment ISO RGD PMID:19609240 PMID:19622764 RGD:9684925 RGD:9684939 NCBI chr 3:73,157,744...73,398,379
Ensembl chr 3:73,157,752...73,398,345
JBrowse link
G BRAF B-Raf proto-oncogene, serine/threonine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:29179997 PMID:29438700 NCBI chr18:8,957,963...9,132,558
Ensembl chr18:8,957,959...9,132,553
JBrowse link
G CALR calreticulin ISO CTD Direct Evidence: therapeutic CTD PMID:16388313 NCBI chr 2:66,098,263...66,102,074
Ensembl chr 2:66,098,225...66,102,340
JBrowse link
G CCL20 C-C motif chemokine ligand 20 treatment ISO RGD PMID:14500387 RGD:7483600 NCBI chr15:129,172,743...129,176,069 JBrowse link
G CTLA4 cytotoxic T-lymphocyte associated protein 4 treatment ISO RGD PMID:24041689 RGD:7411680 NCBI chr15:107,283,081...107,288,041
Ensembl chr15:107,282,926...107,289,103
JBrowse link
G EGR1 early growth response 1 ISO mRNA, protein:increased expression:salivary gland (mouse) RGD PMID:19517020 RGD:5131885 NCBI chr 2:140,440,829...140,445,302
Ensembl chr 2:140,441,421...140,445,296
JBrowse link
G ESR2 estrogen receptor 2 severity ISO RGD PMID:20354658 RGD:8694122 NCBI chr 1:193,823,666...193,907,330
Ensembl chr 1:193,722,164...193,906,565
JBrowse link
G HGF hepatocyte growth factor ISO RGD PMID:9823327 RGD:8548620 NCBI chr 9:98,437,771...98,513,573
Ensembl chr 9:98,437,087...98,513,156
JBrowse link
G IFNB1 interferon beta 1 ISO CTD Direct Evidence: therapeutic CTD PMID:16417267 NCBI chr 1:201,850,935...201,851,495
Ensembl chr 1:201,850,935...201,851,495
JBrowse link
G IKBKB inhibitor of nuclear factor kappa B kinase subunit beta ISO RGD PMID:19276165 RGD:7495758 NCBI chr17:11,289,607...11,348,557
Ensembl chr17:11,289,690...11,348,553
JBrowse link
G IL18 interleukin 18 treatment ISO RGD PMID:12230493 PMID:17411412 RGD:8655870 RGD:8655901 NCBI chr 9:39,839,959...39,861,258
Ensembl chr 9:39,834,966...39,873,300
JBrowse link
G IL1A interleukin 1 alpha treatment ISO RGD PMID:8061895 RGD:7794735 NCBI chr 3:43,718,320...43,731,668
Ensembl chr 3:43,718,368...43,731,119
JBrowse link
G IL2 interleukin 2 ISO RGD PMID:11884028 RGD:8662950 NCBI chr 8:101,640,938...101,645,683
Ensembl chr 8:101,640,944...101,645,609
JBrowse link
G KDM1A lysine demethylase 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:29438700 NCBI chr 6:80,903,407...80,971,875
Ensembl chr 6:80,903,496...80,971,595
JBrowse link
G KDM4C lysine demethylase 4C ISO CTD Direct Evidence: marker/mechanism CTD PMID:29438700 NCBI chr 1:215,071,335...215,507,778
Ensembl chr 1:215,071,334...215,507,800
JBrowse link
G LOC110258578 interleukin-1 beta-like ISO RGD PMID:1966551 RGD:7401226
G MC1R melanocortin 1 receptor ISO RGD PMID:20126537 RGD:5687319 NCBI chr 6:181,225...182,187
Ensembl chr 6:181,225...182,187
JBrowse link
G PDCD1 programmed cell death 1 treatment ISO RGD PMID:19208793 RGD:9589070 NCBI chr15:140,337,353...140,347,493
Ensembl chr15:140,336,210...140,347,478
JBrowse link
G PTEN phosphatase and tensin homolog ISO CTD Direct Evidence: marker/mechanism CTD PMID:29179997 NCBI chr14:99,929,590...100,021,619 JBrowse link
G PXN paxillin ISO CTD Direct Evidence: marker/mechanism CTD PMID:18492274 NCBI chr14:40,227,894...40,278,785
Ensembl chr14:40,227,894...40,278,766
JBrowse link
G TERT telomerase reverse transcriptase treatment ISO RGD PMID:19903903 RGD:11038656 NCBI chr16:79,258,591...79,276,421
Ensembl chr16:79,258,591...79,276,421
JBrowse link
familial melanoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CDK4 cyclin dependent kinase 4 ISO OMIM NCBI chr 5:23,039,206...23,041,959
Ensembl chr 5:23,038,889...23,042,061
JBrowse link
G CDKN2B cyclin dependent kinase inhibitor 2B ISO ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:9622062 PMID:15146471 PMID:16905682 PMID:28492532 NCBI chr 1:200,666,250...200,770,880
Ensembl chr 1:200,761,004...200,766,056
JBrowse link
G FANCA FA complementation group A ISO ClinVar Annotator: match by term: Cutaneous malignant melanoma 5 ClinVar PMID:28492532 NCBI chr 6:253,207...300,159
Ensembl chr 6:253,224...300,155
JBrowse link
G KLC1 kinesin light chain 1 ISO ClinVar Annotator: match by term: Cutaneous malignant melanoma 6 ClinVar PMID:11059748
G MC1R melanocortin 1 receptor ISO OMIM NCBI chr 6:181,225...182,187
Ensembl chr 6:181,225...182,187
JBrowse link
G MITF melanocyte inducing transcription factor susceptibility ISO ClinVar Annotator: match by term: MELANOMA AND RENAL CELL CARCINOMA, SUSCEPTIBILITY TO
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:2440678 PMID:22012259 PMID:22080950 PMID:22158021 PMID:23167872 More... NCBI chr13:51,177,356...51,422,096
Ensembl chr13:51,178,203...51,422,096
JBrowse link
G P14ARF p14ARF protein ISO OMIM NCBI chr 1:200,774,496...200,799,149
Ensembl chr 1:200,774,496...200,798,854
JBrowse link
G POT1 protection of telomeres 1 susceptibility ISO 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: 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
OMIM
ClinVar
CTD
PMID:9536098 PMID:16199547 PMID:17576681 PMID:23502782 PMID:24686846 More... NCBI chr18:22,885,704...22,981,893
Ensembl chr18:22,827,029...22,981,890
JBrowse link
G SPIRE2 spire type actin nucleation factor 2 ISO ClinVar Annotator: match by term: Cutaneous malignant melanoma 5 ClinVar PMID:28492532 NCBI chr 6:211,480...246,109
Ensembl chr 6:211,487...243,636
JBrowse link
G TCF25 transcription factor 25 ISO ClinVar Annotator: match by term: Cutaneous malignant melanoma 5 ClinVar PMID:28492532 NCBI chr 6:186,068...208,841
Ensembl chr 6:183,451...208,903
JBrowse link
G TERT telomerase reverse transcriptase ISO OMIM NCBI chr16:79,258,591...79,276,421
Ensembl chr16:79,258,591...79,276,421
JBrowse link
G TP53 tumor protein p53 ISO ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:12826609 PMID:25741868 PMID:28492532 NCBI chr12:52,939,643...52,953,786
Ensembl chr12:52,939,643...52,953,819
JBrowse link
G TSPAN31 tetraspanin 31 ISO ClinVar Annotator: match by term: Cutaneous Malignant Melanoma, Dominant
ClinVar Annotator: match by term: Familial melanoma
ClinVar Annotator: match by term: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 3
ClinVar 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 chr 5:23,029,325...23,038,987
Ensembl chr 5:23,029,306...23,038,983
JBrowse link
G TYR tyrosinase ISO ClinVar Annotator: match by term: MELANOMA AND RENAL CELL CARCINOMA, SUSCEPTIBILITY TO ClinVar PMID:666627 PMID:1429711 PMID:1820207 PMID:7704033 PMID:9158138 More... NCBI chr 9:22,517,047...22,604,290
Ensembl chr 9:22,517,047...22,604,290
JBrowse link
G XRCC3 X-ray repair cross complementing 3 ISO OMIM
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 ISO OMIM NCBI chr 2:299,662...302,539
Ensembl chr 2:299,660...302,501
JBrowse link
G LRRC56 leucine rich repeat containing 56 ISO 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 chr 2:303,836...323,701
Ensembl chr 2:304,429...323,700
JBrowse link
G NRAS NRAS proto-oncogene, GTPase ISO OMIM NCBI chr 4:105,845,913...105,853,769
Ensembl chr 4:105,845,872...105,858,227
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 ISO OMIM NCBI chr 2:299,662...302,539
Ensembl chr 2:299,660...302,501
JBrowse link
G KRAS KRAS proto-oncogene, GTPase ISO OMIM NCBI chr 5:48,508,774...48,546,260
Ensembl chr 5:48,508,790...48,549,346
JBrowse link
G LRRC56 leucine rich repeat containing 56 ISO 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 chr 2:303,836...323,701
Ensembl chr 2:304,429...323,700
JBrowse link
G NRAS NRAS proto-oncogene, GTPase ISO OMIM NCBI chr 4:105,845,913...105,853,769
Ensembl chr 4:105,845,872...105,858,227
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 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15899824 NCBI chr 9:89,620,783...89,751,876
Ensembl chr 9:89,595,284...89,738,368
JBrowse link
G ACER3 alkaline ceramidase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr 9:10,985,078...11,167,386
Ensembl chr 9:10,951,561...11,165,493
JBrowse link
G ADAMTS20 ADAM metallopeptidase with thrombospondin type 1 motif 20 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21559390 NCBI chr 5:74,502,098...74,672,703
Ensembl chr 5:74,502,099...74,672,737
JBrowse link
G AGER advanced glycosylation end-product specific receptor treatment ISO RGD PMID:15009731 RGD:8695970 NCBI chr 7:24,218,116...24,221,162
Ensembl chr 7:24,218,116...24,228,756
JBrowse link
G AKT1 AKT serine/threonine kinase 1 ISO 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...
G ALDH1A1 aldehyde dehydrogenase 1 family member A1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:31580832 NCBI chr 1:226,163,347...226,217,342
Ensembl chr 1:226,161,296...226,217,312
JBrowse link
G ALDH1A3 aldehyde dehydrogenase 1 family member A3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:31580832 NCBI chr 1:139,451,080...139,491,514
Ensembl chr 1:139,451,049...139,491,513
JBrowse link
G AMIGO2 adhesion molecule with Ig like domain 2 treatment ISO RGD PMID:26553931 RGD:14392781 NCBI chr 5:77,642,144...77,645,748
Ensembl chr 5:77,642,193...77,645,754
JBrowse link
G APEX1 apurinic/apyrimidinic endodeoxyribonuclease 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16373707 NCBI chr 7:78,451,845...78,454,938
Ensembl chr 7:78,451,851...78,454,938
JBrowse link
G ARL2 ADP ribosylation factor like GTPase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr 2:7,157,963...7,167,024
Ensembl chr 2:7,157,963...7,167,329
JBrowse link
G ARL5B ADP ribosylation factor like GTPase 5B ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr10:55,675,129...55,700,389
Ensembl chr10:55,675,138...55,700,305
JBrowse link
G ARNT aryl hydrocarbon receptor nuclear translocator ISO CTD Direct Evidence: marker/mechanism CTD PMID:21983785 NCBI chr 4:98,333,431...98,390,012
Ensembl chr 4:98,333,459...98,404,961
JBrowse link
G ARPC2 actin related protein 2/3 complex subunit 2 ISO protein:increased expression:nevus (human) RGD PMID:19332774 RGD:11049176 NCBI chr15:120,297,122...120,328,795
Ensembl chr15:120,297,127...120,329,059
JBrowse link
G ASF1A anti-silencing function 1A histone chaperone ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr 1:43,200,339...43,215,019
Ensembl chr 1:43,200,414...43,214,913
JBrowse link
G ASIP agouti signaling protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:18488027 PMID:18641652 PMID:21983785 NCBI chr17:37,542,615...37,718,787 JBrowse link
G ASS1 argininosuccinate synthase 1 ISO RGD PMID:12359751 RGD:4140479 NCBI chr 1:270,531,434...270,586,364
Ensembl chr 1:270,531,589...270,586,361
JBrowse link
G ATM ATM serine/threonine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:21983787 NCBI chr 9:36,620,656...36,759,555
Ensembl chr 9:36,620,658...36,759,554
JBrowse link
G ATRX ATRX chromatin remodeler disease_progression ISO protein:decreased expression:skin: RGD PMID:24468746 RGD:9586028 NCBI chr  X:61,584,028...61,872,341
Ensembl chr  X:61,584,848...61,872,288
JBrowse link
G AURKA aurora kinase A ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr17:56,954,838...56,972,435 JBrowse link
G B2M beta-2-microglobulin ISO ClinVar Annotator: match by term: MELANOMA, MALIGNANT, SOMATIC ClinVar PMID:26619011 NCBI chr 1:126,865,767...126,878,501
Ensembl chr 1:126,835,143...126,981,582
JBrowse link
G BATF2 basic leucine zipper ATF-like transcription factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr 2:7,180,019...7,188,996
Ensembl chr 2:7,180,258...7,188,990
JBrowse link
G BCL2L1 BCL2 like 1 disease_progression ISO protein:increased expression:skin, subcutaneous tissue (human) RGD PMID:17384650 RGD:11353861 NCBI chr17:35,366,139...35,415,798
Ensembl chr17:35,366,141...35,415,359
JBrowse link
G BCL2L12 BCL2 like 12 ISO ClinVar Annotator: match by term: MELANOMA, MALIGNANT, SOMATIC ClinVar PMID:26619011 NCBI chr 6:54,706,453...54,715,127
Ensembl chr 6:54,707,237...54,715,127
JBrowse link
G BMP4 bone morphogenetic protein 4 susceptibility ISO DNA:SNP:cds:6007C>T (rs17563)(human) RGD PMID:19557432 RGD:9068447 NCBI chr 1:183,415,989...183,422,888
Ensembl chr 1:183,416,134...183,792,417
JBrowse link
G BRAF B-Raf proto-oncogene, serine/threonine kinase treatment
onset
ISO ClinVar Annotator: match by term: Melanoma
ClinVar Annotator: match by term: Malignant melanoma, somatic
ClinVar Annotator: match by term: MELANOMA, MALIGNANT, SOMATIC
DNA:mutations: :
CTD Direct Evidence: marker/mechanism
RGD
ClinVar
CTD
PMID:2493360 PMID:2872605 PMID:8042262 PMID:12068308 PMID:12198537 More... RGD:11567259 RGD:11567267 RGD:1580103 NCBI chr18:8,957,963...9,132,558
Ensembl chr18:8,957,959...9,132,553
JBrowse link
G BRCA2 BRCA2 DNA repair associated susceptibility ISO DNA:polymorphism:cds:p.N991D(human)
ClinVar Annotator: match by term: Melanoma
RGD
ClinVar
PMID:18024013 PMID:25741868 PMID:28492532 RGD:9068469 NCBI chr11:8,805,950...8,858,128 JBrowse link
G BRD2 bromodomain containing 2 ISO protein:mRNA:skin: RGD PMID:23950209 RGD:9586346 NCBI chr 7:25,096,579...25,162,591
Ensembl chr 7:25,150,658...25,165,433
JBrowse link
G BRD4 bromodomain containing 4 ISO protein:mRNA:skin: RGD PMID:23950209 RGD:9586346 NCBI chr 2:62,250,958...62,345,851
Ensembl chr 2:62,250,987...62,345,387
JBrowse link
G BZW1 basic leucine zipper and W2 domains 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr15:104,525,900...104,543,795
Ensembl chr15:104,525,451...104,667,812
JBrowse link
G C2H11orf68 chromosome 2 C11orf68 homolog ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr 2:6,411,946...6,414,286
Ensembl chr 2:6,409,490...6,414,286
JBrowse link
G C3 complement C3 treatment ISO RGD PMID:17146472 RGD:7401279 NCBI chr 2:72,431,470...72,471,622
Ensembl chr 2:72,431,499...72,528,112
JBrowse link
G CAPN1 calpain 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr 2:6,997,513...7,024,410
Ensembl chr 2:6,997,516...7,081,432
JBrowse link
G CASP10 caspase 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18563783 NCBI chr15:104,858,082...104,895,941
Ensembl chr15:104,858,100...104,894,933
JBrowse link
G CASP8 caspase 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18563783 PMID:21983787 NCBI chr15:104,923,659...104,948,470
Ensembl chr15:104,923,953...104,948,470
JBrowse link
G CAT catalase ISO protein:increased activity:multiple:
protein:increased activity:melanocyte:
RGD PMID:9758419 PMID:15224238 RGD:9479151 RGD:9479742 NCBI chr 2:26,493,664...26,533,881
Ensembl chr 2:26,487,653...26,581,452
JBrowse link
G CAV1 caveolin 1 disease_progression ISO RGD PMID:22134245 RGD:8661767 NCBI chr18:29,648,120...29,682,451
Ensembl chr18:29,649,992...29,682,465
JBrowse link
G CBS cystathionine beta-synthase ISO CTD Direct Evidence: marker/mechanism CTD PMID:25205294 NCBI chr13:206,205,942...206,231,363 JBrowse link
G CCDC63 coiled-coil domain containing 63 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21499247 NCBI chr14:32,140,323...32,300,930 JBrowse link
G CD163L1 CD163 molecule-like 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22842228 NCBI chr 5:63,488,674...63,514,536 JBrowse link
G CD40 CD40 molecule treatment ISO RGD PMID:17327609 PMID:22421945 RGD:11522740 RGD:11522745 NCBI chr17:48,286,116...48,298,188
Ensembl chr17:48,286,029...48,298,528
JBrowse link
G CDK2 cyclin dependent kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21559390 NCBI chr 5:21,365,723...21,372,170
Ensembl chr 5:21,365,763...21,392,726
JBrowse link
G CDK4 cyclin dependent kinase 4 ISO 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 chr 5:23,039,206...23,041,959
Ensembl chr 5:23,038,889...23,042,061
JBrowse link
G CDKN1A cyclin dependent kinase inhibitor 1A ISO protein:increased expression:skin RGD PMID:9194578 PMID:22311377 RGD:8662421 RGD:8662817 NCBI chr 7:32,354,776...32,363,771
Ensembl chr 7:32,359,455...32,363,761
JBrowse link
G CDKN1C cyclin dependent kinase inhibitor 1C ISO CTD Direct Evidence: marker/mechanism CTD PMID:17145863 NCBI chr 2:2,019,391...2,022,092
Ensembl chr 2:2,019,490...2,021,853
JBrowse link
G CHI3L1 chitinase 3 like 1 severity ISO protein:increased secretion:serum (human) RGD PMID:16456816 RGD:4892643 NCBI chr 9:113,885,541...113,895,033
Ensembl chr 9:113,885,542...113,895,510
JBrowse link
G CLNS1A chloride nucleotide-sensitive channel 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr 9:12,092,990...12,113,668
Ensembl chr 9:11,830,106...12,113,671
JBrowse link
G CLU clusterin ISO CTD Direct Evidence: therapeutic CTD PMID:15955107 NCBI chr14:11,336,585...11,352,569
Ensembl chr14:11,336,590...11,352,475
JBrowse link
G CNNM1 cyclin and CBS domain divalent metal cation transport mediator 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16778180 NCBI chr14:110,539,360...110,601,721
Ensembl chr14:110,539,426...110,601,721
JBrowse link
G COL2A1 collagen type II alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:16778180 NCBI chr 5:78,350,131...78,380,893
Ensembl chr 5:78,350,220...78,380,924
JBrowse link
G CP ceruloplasmin ISO CTD Direct Evidence: marker/mechanism CTD PMID:23792645 NCBI chr13:89,396,713...89,463,540
Ensembl chr13:89,396,685...89,463,538
JBrowse link
G CPT1C carnitine palmitoyltransferase 1C ISO CTD Direct Evidence: marker/mechanism CTD PMID:16778180 NCBI chr 6:54,732,701...54,747,706
Ensembl chr 6:54,731,557...54,749,249
JBrowse link
G CREBBP CREB binding protein ISO 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 chr 3:38,388,366...38,530,243
Ensembl chr 3:38,388,547...38,530,230
JBrowse link
G CRNKL1 crooked neck pre-mRNA splicing factor 1 ISO ClinVar Annotator: match by term: MELANOMA, MALIGNANT, SOMATIC ClinVar PMID:26619011 NCBI chr17:28,079,541...28,111,871
Ensembl chr17:28,077,707...28,111,545
JBrowse link
G CRYBG1 crystallin beta-gamma domain containing 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22402438 NCBI chr 1:72,552,858...72,763,553
Ensembl chr 1:72,515,942...72,826,360
JBrowse link
G CSF2 colony stimulating factor 2 ISO CTD Direct Evidence: therapeutic CTD PMID:11061616 NCBI chr 2:134,354,724...134,357,155
Ensembl chr 2:134,354,724...134,357,155
JBrowse link
G CSF3 colony stimulating factor 3 ISO CTD Direct Evidence: therapeutic CTD PMID:16120623 PMID:16260693 NCBI chr12:22,333,445...22,335,949
Ensembl chr12:22,333,445...22,342,163
JBrowse link
G CST6 cystatin E/M ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr 2:6,323,737...6,325,519
Ensembl chr 2:6,323,737...6,325,477
JBrowse link
G CTH cystathionine gamma-lyase ISO CTD Direct Evidence: marker/mechanism CTD PMID:25205294 NCBI chr 6:142,454,922...142,486,352
Ensembl chr 6:142,435,690...142,486,367
JBrowse link
G CTLA4 cytotoxic T-lymphocyte associated protein 4 treatment ISO CTD Direct Evidence: therapeutic
DNA:SNPs: :-11577G>A,rs3087243(human)
CTD
RGD
PMID:21802280 PMID:23641913 RGD:7411681 NCBI chr15:107,283,081...107,288,041
Ensembl chr15:107,282,926...107,289,103
JBrowse link
G CTNNB1 catenin beta 1 ISO 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 chr13:25,163,550...25,208,314
Ensembl chr13:25,137,173...25,208,311
JBrowse link
G CUBN cubilin ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr10:43,102,931...43,414,692
Ensembl chr10:43,102,946...43,414,613
JBrowse link
G CUL3 cullin 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr15:126,191,605...126,287,148
Ensembl chr15:126,189,851...126,287,037
JBrowse link
G CYP1B1 cytochrome P450 family 1 subfamily B member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17145863 NCBI chr 3:102,195,743...102,205,687
Ensembl chr 3:102,195,741...102,206,750
JBrowse link
G DCBLD1 discoidin, CUB and LCCL domain containing 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr 1:44,301,108...44,373,712
Ensembl chr 1:44,276,675...44,374,143
JBrowse link
G DCC DCC netrin 1 receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:22842228 NCBI chr 1:101,518,629...103,087,021
Ensembl chr 1:102,080,200...103,087,249
JBrowse link
G DDIT4L DNA damage inducible transcript 4 like ISO CTD Direct Evidence: marker/mechanism CTD PMID:16778180 NCBI chr 8:120,371,724...120,376,444
Ensembl chr 8:120,371,538...120,376,441
JBrowse link
G DDR2 discoidin domain receptor tyrosine kinase 2 ameliorates ISO DNA:deletion:exons: RGD PMID:24293323 RGD:150429711 NCBI chr 4:87,749,738...87,911,818
Ensembl chr 4:87,756,168...87,911,375
JBrowse link
G DLG2 discs large MAGUK scaffold protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr 9:17,575,991...19,547,417
Ensembl chr 9:17,576,135...19,546,887
JBrowse link
G DNAJC1 DnaJ heat shock protein family (Hsp40) member C1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr10:52,862,813...53,060,747
Ensembl chr10:52,862,835...53,060,740
JBrowse link
G DNAJC15 DnaJ heat shock protein family (Hsp40) member C15 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17145863 NCBI chr11:24,011,530...24,087,156
Ensembl chr11:23,994,030...24,087,067
JBrowse link
G DRAP1 DR1 associated protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr 2:6,409,623...6,411,935
Ensembl chr 2:6,409,625...6,412,395
JBrowse link
G DSC1 desmocollin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22197931 NCBI chr 6:115,042,225...115,076,097
Ensembl chr 6:115,039,719...115,076,097
JBrowse link
G E2F1 E2F transcription factor 1 ISO CTD Direct Evidence: marker/mechanism|therapeutic CTD PMID:15574415 PMID:16827129 NCBI chr17:37,178,587...37,190,118
Ensembl chr17:37,178,598...37,189,841
JBrowse link
G ECHDC1 ethylmalonyl-CoA decarboxylase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr 1:35,852,939...35,909,314
Ensembl chr 1:35,852,934...35,909,956
JBrowse link
G EDA ectodysplasin A ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr  X:55,770,958...56,103,296
Ensembl chr  X:55,771,240...56,103,265
JBrowse link
G EHMT2 euchromatic histone lysine methyltransferase 2 disease_progression ISO RGD PMID:24658378 RGD:9590069 NCBI chr 7:23,977,683...23,992,673
Ensembl chr 7:23,977,683...23,993,478
JBrowse link
G EIF1AD eukaryotic translation initiation factor 1A domain containing ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr 2:6,334,882...6,340,125
Ensembl chr 2:6,334,197...6,340,112
JBrowse link
G ELN elastin disease_progression ISO associated with Nevus, Pigmented; RGD PMID:11979070 PMID:19032378 RGD:9585752 RGD:9585768 NCBI chr 3:11,214,194...11,245,891
Ensembl chr 3:11,214,073...11,244,897
JBrowse link
G ENG endoglin treatment ISO RGD PMID:23076642 RGD:7248785 NCBI chr 1:268,309,379...268,343,861
Ensembl chr 1:268,306,120...268,343,827
JBrowse link
G EP300 E1A binding protein p300 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23698071 NCBI chr 5:7,311,165...7,394,515
Ensembl chr 5:7,311,171...7,393,760
JBrowse link
G EPB41 erythrocyte membrane protein band 4.1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17145863 NCBI chr 6:85,842,538...86,029,522
Ensembl chr 6:85,842,605...86,029,522
JBrowse link
G EPHX3 epoxide hydrolase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16778180 NCBI chr 2:62,348,531...62,353,118
Ensembl chr 2:62,348,957...62,353,117
JBrowse link
G EPO erythropoietin ISO CTD Direct Evidence: marker/mechanism CTD PMID:15743794 NCBI chr 3:8,620,508...8,622,936
Ensembl chr 3:8,620,508...8,622,936
JBrowse link
G EPOR erythropoietin receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:21860424 NCBI chr 2:70,063,601...70,068,821
Ensembl chr 2:70,063,515...70,068,821
JBrowse link
G ERBB2 erb-b2 receptor tyrosine kinase 2 ISO ClinVar Annotator: match by term: MELANOMA, MALIGNANT, SOMATIC ClinVar PMID:18413839 PMID:22046346 PMID:23220880 PMID:25157968 PMID:26619011 NCBI chr12:22,591,621...22,621,384
Ensembl chr12:22,590,725...22,621,351
JBrowse link
G ERBB4 erb-b2 receptor tyrosine kinase 4 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Melanoma
ClinVar Annotator: match by term: Malignant melanoma, somatic
CTD
ClinVar
PMID:19718025 NCBI chr15:113,966,573...115,096,984
Ensembl chr15:113,973,037...114,696,375
JBrowse link
G ERCC1 ERCC excision repair 1, endonuclease non-catalytic subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:21722328 NCBI chr 6:51,783,537...51,808,898 JBrowse link
G ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit disease_progression ISO DNA:polymorphism:exon:p.K751Q(human) RGD PMID:21390047 RGD:12880434 NCBI chr 6:51,734,318...51,757,508
Ensembl chr 6:51,734,319...51,779,624
JBrowse link
G ERCC5 ERCC excision repair 5, endonuclease disease_progression ISO DNA:polymorphism:exon:p.D1104H(human) RGD PMID:21390047 RGD:12880434 NCBI chr11:71,141,823...71,168,326
Ensembl chr11:71,141,798...71,168,321
JBrowse link
G ESR1 estrogen receptor 1 severity ISO RGD PMID:19153340 RGD:8553064 NCBI chr 1:14,217,032...14,604,906
Ensembl chr 1:14,217,036...14,493,363
JBrowse link
G ESR2 estrogen receptor 2 severity ISO RGD PMID:19153340 RGD:8553064 NCBI chr 1:193,823,666...193,907,330
Ensembl chr 1:193,722,164...193,906,565
JBrowse link
G F2RL1 F2R like trypsin receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17145863 NCBI chr 2:85,732,082...85,747,552
Ensembl chr 2:85,732,189...85,750,858
JBrowse link
G FAS Fas cell surface death receptor susceptibility ISO DNA:polymorphisms:promoter:-1377A>G,-670A>G(human) RGD PMID:16538172 RGD:12903985 NCBI chr14:100,927,305...100,954,781 JBrowse link
G FASLG Fas ligand susceptibility ISO CTD Direct Evidence: therapeutic
DNA:polymorphisms,haplotype:promoter:-844C>T,IVS2nt-124A>G(human)
CTD
RGD
PMID:16487513 PMID:16538172 RGD:12903985 NCBI chr 9:115,068,314...115,075,147
Ensembl chr 9:115,068,090...115,076,475
JBrowse link
G FASN fatty acid synthase ISO CTD Direct Evidence: marker/mechanism CTD PMID:18770866 PMID:20805790 PMID:21213365 NCBI chr12:922,405...937,560
Ensembl chr12:920,507...937,559
JBrowse link
G FAT4 FAT atypical cadherin 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22197931 NCBI chr 8:99,141,967...99,312,131 JBrowse link
G FBN1 fibrillin 1 ISO ClinVar Annotator: match by term: Malignant melanoma ClinVar PMID:7611299 PMID:8894692 PMID:9401003 PMID:9536098 PMID:10533071 More... NCBI chr 1:123,102,011...123,359,649
Ensembl chr 1:123,102,009...123,359,649
JBrowse link
G FBXW7 F-box and WD repeat domain containing 7 ISO ClinVar Annotator: match by term: MELANOMA, MALIGNANT, SOMATIC ClinVar PMID:25741868 PMID:26619011 NCBI chr 8:76,482,027...76,699,354
Ensembl chr 8:76,482,022...76,699,351
JBrowse link
G FHIP2A FHF complex subunit HOOK interacting protein 2A ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr14:125,158,615...125,195,864
Ensembl chr14:125,158,648...125,193,069
JBrowse link
G FLT1 fms related receptor tyrosine kinase 1 ISO protein:increased expression:serum:
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:19718025 PMID:21730877 RGD:8552360 NCBI chr11:5,620,698...5,797,095
Ensembl chr11:5,620,700...5,795,264
JBrowse link
G FTO FTO alpha-ketoglutarate dependent dioxygenase ISO CTD Direct Evidence: marker/mechanism CTD PMID:23455637 NCBI chr 6:31,177,112...31,564,674
Ensembl chr 6:31,174,569...31,564,707
JBrowse link
G GAB2 GRB2 associated binding protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr 9:12,663,658...12,851,423
Ensembl chr 9:12,656,882...12,851,402
JBrowse link
G GDF15 growth differentiation factor 15 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17145863 NCBI chr 2:59,409,035...59,411,356
Ensembl chr 2:59,408,904...59,411,358
JBrowse link
G GLO1 glyoxalase I ISO CTD Direct Evidence: marker/mechanism CTD PMID:20093988 NCBI chr 7:34,156,194...34,183,560
Ensembl chr 7:34,068,806...34,183,528
JBrowse link
G GNA11 G protein subunit alpha 11 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Malignant melanoma, somatic
ClinVar Annotator: match by term: MELANOMA, MALIGNANT, SOMATIC
CTD
ClinVar
PMID:1328859 PMID:2549426 PMID:21083380 PMID:21444680 PMID:22733540 More... NCBI chr 2:75,439,405...75,456,855
Ensembl chr 2:75,437,201...75,457,092
JBrowse link
G GNAQ G protein subunit alpha q ISO 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 1:230,607,469...230,906,988
Ensembl chr 1:230,605,229...230,907,675
JBrowse link
G GNAS GNAS complex locus ISO ClinVar Annotator: match by term: MELANOMA, MALIGNANT, SOMATIC ClinVar PMID:1594625 PMID:1944469 PMID:2549426 PMID:3720010 PMID:7739708 More... NCBI chr17:58,985,580...59,053,022
Ensembl chr17:58,998,981...59,053,021
JBrowse link
G GOPC golgi associated PDZ and coiled-coil motif containing ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr 1:44,239,364...44,285,886
Ensembl chr 1:44,239,383...44,287,198
JBrowse link
G GPAM glycerol-3-phosphate acyltransferase, mitochondrial ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr14:122,538,600...122,582,390
Ensembl chr14:122,538,600...122,724,131
JBrowse link
G GPER1 G protein-coupled estrogen receptor 1 severity ISO protein:increased expression:skin (human) RGD PMID:28467693 RGD:39939016 NCBI chr 3:711,427...715,982
Ensembl chr 3:712,160...715,982
JBrowse link
G GPHA2 glycoprotein hormone subunit alpha 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr 2:7,245,287...7,248,268
Ensembl chr 2:7,247,231...7,247,886
JBrowse link
G GRIN2A glutamate ionotropic receptor NMDA type subunit 2A ISO CTD Direct Evidence: marker/mechanism CTD PMID:21499247 NCBI chr 3:32,749,329...33,149,350
Ensembl chr 3:32,752,351...33,143,499
JBrowse link
G GRM3 glutamate metabotropic receptor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21946352 PMID:22842228 NCBI chr 9:93,731,210...93,974,718
Ensembl chr 9:93,731,210...93,973,729
JBrowse link
G HDAC2 histone deacetylase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr 1:79,867,713...79,901,597
Ensembl chr 1:79,863,094...79,901,585
JBrowse link
G HDAC3 histone deacetylase 3 ISO associated with Anaphylaxis; RGD PMID:24619412 RGD:9590165 NCBI chr 2:143,273,188...143,287,421
Ensembl chr 2:143,273,191...143,287,387
JBrowse link
G HDAC6 histone deacetylase 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr  X:42,917,911...42,941,894
Ensembl chr  X:42,917,960...42,941,890
JBrowse link
G HIKESHI heat shock protein nuclear import factor hikeshi ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr 9:20,181,187...20,224,116
Ensembl chr 9:20,181,235...20,280,211
JBrowse link
G HOXA9 homeobox A9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16778180 NCBI chr18:45,404,594...45,411,512 JBrowse link
G HOXB13 homeobox B13 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17145863 NCBI chr12:24,948,307...24,950,661
Ensembl chr12:24,947,728...24,950,637
JBrowse link
G HOXD12 homeobox D12 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16778180 NCBI chr15:81,900,962...81,902,327
Ensembl chr15:81,901,032...81,901,994
JBrowse link
G HPSE heparanase ISO CTD Direct Evidence: marker/mechanism CTD PMID:22240343 NCBI chr 8:135,082,199...135,120,887
Ensembl chr 8:135,081,151...135,120,889
JBrowse link
G HRAS HRas proto-oncogene, GTPase ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Malignant melanoma
ClinVar Annotator: match by term: Malignant melanoma, somatic
ClinVar Annotator: match by term: Melanoma
ClinVar Annotator: match by term: MELANOMA, MALIGNANT, SOMATIC
CTD
ClinVar
PMID:1904555 PMID:2999610 PMID:3510078 PMID:3537694 PMID:6092966 More... NCBI chr 2:299,662...302,539
Ensembl chr 2:299,660...302,501
JBrowse link
G HS3ST5 heparan sulfate-glucosamine 3-sulfotransferase 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr 1:79,956,485...80,140,140
Ensembl chr 1:79,955,657...80,243,797
JBrowse link
G ICAM1 intercellular adhesion molecule 1 disease_progression ISO RGD PMID:8599446 RGD:8547584 NCBI chr 2:69,097,136...69,107,722
Ensembl chr 2:69,097,122...69,108,205
JBrowse link
G IDH1 isocitrate dehydrogenase (NADP(+)) 1 ISO 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 chr15:111,341,153...111,362,330
Ensembl chr15:111,341,152...111,362,280
JBrowse link
G IFNA1 interferon, alpha 1 ISO CTD Direct Evidence: therapeutic CTD PMID:15176220 PMID:15577320 PMID:15577323 PMID:16034308 PMID:16260693 More... NCBI chr 1:201,515,835...201,516,477
Ensembl chr 1:201,736,694...201,750,298
JBrowse link
G IFNB1 interferon beta 1 ISO CTD Direct Evidence: therapeutic CTD PMID:16928243 PMID:21846298 NCBI chr 1:201,850,935...201,851,495
Ensembl chr 1:201,850,935...201,851,495
JBrowse link
G IFNG interferon gamma ISO CTD Direct Evidence: therapeutic CTD PMID:9794839 NCBI chr 5:32,477,906...32,482,670
Ensembl chr 5:32,477,848...32,482,752
JBrowse link
G IL17D interleukin 17D severity ISO RGD PMID:31244826 RGD:40903065 NCBI chr11:1,029,219...1,066,086
Ensembl chr11:1,029,308...1,066,085
JBrowse link
G IL1RAPL1 interleukin 1 receptor accessory protein like 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr  X:24,408,092...25,811,129
Ensembl chr  X:24,645,529...25,805,945
JBrowse link
G IL1RN interleukin 1 receptor antagonist ISO mouse model treated with human protein RGD PMID:8168095 RGD:6909140
G IL2 interleukin 2 ISO CTD Direct Evidence: therapeutic CTD PMID:12374674 PMID:12439608 PMID:15577323 PMID:15917704 PMID:16131448 More... NCBI chr 8:101,640,938...101,645,683
Ensembl chr 8:101,640,944...101,645,609
JBrowse link
G IL21 interleukin 21 treatment ISO RGD PMID:22477528 RGD:127285553 NCBI chr 8:101,532,742...101,540,712
Ensembl chr 8:101,530,949...101,540,738
JBrowse link
G INCENP inner centromere protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr 2:9,411,942...9,445,825
Ensembl chr 2:9,411,942...9,445,832
JBrowse link
G IQCH IQ motif containing H ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr 1:165,193,090...165,419,528
Ensembl chr 1:165,193,111...165,431,058
JBrowse link
G JAKMIP2 janus kinase and microtubule interacting protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22842228 NCBI chr 2:148,864,445...149,045,921
Ensembl chr 2:148,781,723...149,045,927
JBrowse link
G JMJD6 jumonji domain containing 6, arginine demethylase and lysine hydroxylase ISO CTD Direct Evidence: marker/mechanism CTD PMID:30619488 NCBI chr12:4,809,014...4,819,853
Ensembl chr12:4,808,691...4,818,062
JBrowse link
G KDM1A lysine demethylase 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:29438700 NCBI chr 6:80,903,407...80,971,875
Ensembl chr 6:80,903,496...80,971,595
JBrowse link
G KDM4A lysine demethylase 4A ISO CTD Direct Evidence: marker/mechanism CTD PMID:29438700 NCBI chr 6:167,597,954...167,642,381
Ensembl chr 6:167,597,956...167,642,309
JBrowse link
G KDM4B lysine demethylase 4B ISO CTD Direct Evidence: marker/mechanism CTD PMID:29438700 NCBI chr 2:73,746,379...73,889,881
Ensembl chr 2:73,747,641...73,889,865
JBrowse link
G KDM4C lysine demethylase 4C ISO CTD Direct Evidence: marker/mechanism CTD PMID:29438700 NCBI chr 1:215,071,335...215,507,778
Ensembl chr 1:215,071,334...215,507,800
JBrowse link
G KDM7A lysine demethylase 7A ISO human gene in a mouse model RGD PMID:22143793 RGD:9587848 NCBI chr18:9,581,468...9,664,750
Ensembl chr18:9,581,384...9,664,749
JBrowse link
G KDR kinase insert domain receptor treatment
disease_progression
ISO protein:increased expression:serum:
protein:increased expression, altered expression:skin:
RGD PMID:12415261 PMID:15714119 PMID:21730877 RGD:126925192 RGD:8551851 RGD:8552360 NCBI chr 8:41,809,116...41,856,379
Ensembl chr 8:41,809,116...41,856,339
JBrowse link
G KDSR 3-ketodihydrosphingosine reductase severity ISO protein:increased expression:lymph node (human) RGD PMID:8783649 RGD:11526106 NCBI chr 1:158,337,403...158,518,214
Ensembl chr 1:158,288,544...158,518,879
JBrowse link
G KHDRBS2 KH RNA binding domain containing, signal transduction associated 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21499247 NCBI chr 7:27,348,614...27,895,572
Ensembl chr 7:27,389,874...27,895,570
JBrowse link
G KIF18B kinesin family member 18B ISO CTD Direct Evidence: marker/mechanism CTD PMID:31617652 NCBI chr12:18,426,828...18,448,214
Ensembl chr12:18,426,835...18,448,213
JBrowse link
G KIT KIT proto-oncogene, receptor tyrosine kinase disease_progression ISO ClinVar Annotator: match by term: Melanoma
ClinVar Annotator: match by term: Malignant melanoma, somatic
RGD
ClinVar
PMID:7513208 PMID:7530509 PMID:8589724 PMID:9310959 PMID:9438854 More... RGD:12910725 NCBI chr 8:41,402,334...41,492,306
Ensembl chr 8:41,402,043...41,493,735
JBrowse link
G KLRB1 killer cell lectin like receptor B1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17295095 NCBI chr 5:62,244,787...62,257,691
Ensembl chr 5:62,244,855...62,257,691
JBrowse link
G KLRK1 killer cell lectin like receptor K1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17295095 NCBI chr 5:61,646,691...61,655,386
Ensembl chr 5:61,623,200...61,656,195
JBrowse link
G KRAS KRAS proto-oncogene, GTPase ISO ClinVar Annotator: match by term: MELANOMA, MALIGNANT, SOMATIC ClinVar PMID:2278970 PMID:3122217 PMID:12460918 PMID:15696205 PMID:16361624 More... NCBI chr 5:48,508,774...48,546,260
Ensembl chr 5:48,508,790...48,549,346
JBrowse link
G LGALS3 galectin 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23994248 NCBI chr 1:184,478,639...184,496,155
Ensembl chr 1:184,478,710...184,497,951
JBrowse link
G LOC100739508 glutathione S-transferase P-like ISO DNA:polymorphism:cds:p.I50V(human) RGD PMID:23568549 RGD:8547833 NCBI chr 2:5,005,498...5,009,247 JBrowse link
G LRP1B LDL receptor related protein 1B ameliorates ISO CTD Direct Evidence: marker/mechanism
DNA:mutations:multiple: (human)
CTD
RGD
PMID:22197931 PMID:31164891 RGD:150429775 NCBI chr15:9,612,805...11,499,969
Ensembl chr15:9,613,539...11,499,965
JBrowse link
G LRRC56 leucine rich repeat containing 56 ISO 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 chr 2:303,836...323,701
Ensembl chr 2:304,429...323,700
JBrowse link
G LTA lymphotoxin alpha disease_progression ISO RGD PMID:9182821 RGD:8548801 NCBI chr 7:23,696,387...23,698,280
Ensembl chr 7:23,696,039...23,698,302
JBrowse link
G LXN latexin ISO CTD Direct Evidence: marker/mechanism CTD PMID:17145863 NCBI chr13:98,435,318...98,441,823
Ensembl chr13:98,435,319...98,441,785
JBrowse link
G MAP2K1 mitogen-activated protein kinase kinase 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Melanoma
ClinVar Annotator: match by term: Malignant melanoma, somatic
ClinVar Annotator: match by term: MELANOMA, MALIGNANT, SOMATIC
CTD
ClinVar
PMID:7651428 PMID:17366577 PMID:17551924 PMID:17704260 PMID:18060073 More... NCBI chr 1:164,381,892...164,469,313
Ensembl chr 1:164,381,845...164,471,226
JBrowse link
G MAP2K2 mitogen-activated protein kinase kinase 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Melanoma
CTD
ClinVar
PMID:22197931 PMID:24265153 PMID:24265154 NCBI chr 2:74,626,739...74,651,352
Ensembl chr 2:74,626,658...74,651,348
JBrowse link
G MAP3K5 mitogen-activated protein kinase kinase kinase 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22197930 NCBI chr 1:27,380,143...27,600,500
Ensembl chr 1:27,380,142...27,600,495
JBrowse link
G MAP3K9 mitogen-activated protein kinase kinase kinase 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22197930 NCBI chr 7:94,296,349...94,380,060
Ensembl chr 7:94,303,085...94,380,296
JBrowse link
G MC1R melanocortin 1 receptor ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Malignant melanoma
ClinVar Annotator: match by term: Malignant Melanoma Susceptibility
DNA:missense mutations:cds:multiple (human)
CTD
ClinVar
RGD
PMID:7581459 PMID:8894704 PMID:16809487 PMID:16982779 PMID:17434924 More... RGD:1600619 RGD:6484659 NCBI chr 6:181,225...182,187
Ensembl chr 6:181,225...182,187
JBrowse link
G MDM2 MDM2 proto-oncogene ISO CTD Direct Evidence: marker/mechanism CTD PMID:17210701 NCBI chr 5:33,105,717...33,137,602
Ensembl chr 5:33,086,994...33,178,089
JBrowse link
G MELTF melanotransferrin ISO CTD Direct Evidence: marker/mechanism CTD PMID:16704991 NCBI chr13:133,094,869...133,122,092
Ensembl chr13:133,094,863...133,122,065
JBrowse link
G MET MET proto-oncogene, receptor tyrosine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:29426936 NCBI chr18:29,426,044...29,541,526
Ensembl chr18:29,426,044...29,541,512
JBrowse link
G MGMT O-6-methylguanine-DNA methyltransferase ISO protein:increased activity:skin tumor (rat) RGD PMID:20182810 RGD:2316960 NCBI chr14:138,502,005...138,771,543
Ensembl chr14:138,499,161...138,779,938
JBrowse link
G MITF melanocyte inducing transcription factor ISO mRNA:increased expression:blood
ClinVar Annotator: match by term: Melanoma
CTD Direct Evidence: marker/mechanism
RGD
ClinVar
CTD
PMID:2440678 PMID:15103749 PMID:22012259 PMID:22080950 PMID:22158021 More... RGD:13204752 NCBI chr13:51,177,356...51,422,096
Ensembl chr13:51,178,203...51,422,096
JBrowse link
G MLANA melan-A ISO CTD Direct Evidence: marker/mechanism CTD PMID:26640592 NCBI chr 1:216,230,472...216,247,171
Ensembl chr 1:216,232,563...216,245,389
JBrowse link
G MLLT10 MLLT10 histone lysine methyltransferase DOT1L cofactor ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr10:53,072,056...53,315,351
Ensembl chr10:53,072,056...53,315,363
JBrowse link
G MMP8 matrix metallopeptidase 8 ISO CTD Direct Evidence: therapeutic CTD PMID:19330028 NCBI chr 9:33,384,034...33,397,637
Ensembl chr 9:33,384,028...33,396,947
JBrowse link
G MPST mercaptopyruvate sulfurtransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:25205294 NCBI chr 5:10,739,179...10,749,826
Ensembl chr 5:10,739,195...10,749,731
JBrowse link
G MRPL49 mitochondrial ribosomal protein L49 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr 2:7,066,514...7,071,812
Ensembl chr 2:7,058,088...7,071,812
JBrowse link
G MTAP methylthioadenosine phosphorylase ISO CTD Direct Evidence: marker/mechanism CTD PMID:19578364 NCBI chr 1:200,882,954...200,934,389
Ensembl chr 1:200,882,955...200,934,639
JBrowse link
G MTOR mechanistic target of rapamycin kinase ISO ClinVar Annotator: match by term: MELANOMA, MALIGNANT, SOMATIC
ClinVar Annotator: match by term: Malignant melanoma, somatic
ClinVar PMID:20190810 PMID:24631838 PMID:26018084 PMID:26619011 PMID:27159400 More... NCBI chr 6:71,286,989...71,412,913
Ensembl chr 6:71,286,989...71,412,888
JBrowse link
G MTPAP mitochondrial poly(A) polymerase ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr10:40,764,098...40,869,608
Ensembl chr10:40,764,362...40,872,854
JBrowse link
G MYO7A myosin VIIA ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr 9:11,251,187...11,337,618
Ensembl chr 9:11,249,075...11,666,296
JBrowse link
G NDRG1 N-myc downstream regulated 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15341671 NCBI chr 4:8,014,445...8,069,335
Ensembl chr 4:8,014,446...8,069,333
JBrowse link
G NF1 neurofibromin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25119042 PMID:26214590 NCBI chr12:43,487,098...43,754,205
Ensembl chr12:43,489,171...43,754,176
JBrowse link
G NFKB1 nuclear factor kappa B subunit 1 ISO DNA:insertion(s) RGD PMID:17492467 RGD:2298900 NCBI chr 8:118,391,010...118,478,927
Ensembl chr 8:118,390,637...118,506,691
JBrowse link
G NFKBIA NFKB inhibitor alpha ISO DNA:insertion(s) RGD PMID:17492467 RGD:2298900 NCBI chr 7:64,508,119...64,510,754
Ensembl chr 7:64,508,016...64,558,057
JBrowse link
G NFKBIE NFKB inhibitor epsilon ISO CTD Direct Evidence: marker/mechanism CTD PMID:26343386 NCBI chr 7:39,255,078...39,266,085
Ensembl chr 7:39,255,075...39,263,339
JBrowse link
G NGFR nerve growth factor receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:30339727 NCBI chr12:25,699,410...25,720,355
Ensembl chr12:25,699,427...25,720,357
JBrowse link
G NPAP1 nuclear pore associated protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22842228 NCBI chr 1:233,074,862...233,080,760 JBrowse link
G NPPA natriuretic peptide A ISO CTD Direct Evidence: therapeutic CTD PMID:18004088 NCBI chr 6:71,919,557...71,921,345
Ensembl chr 6:71,919,495...71,932,254
JBrowse link
G NRAS NRAS proto-oncogene, GTPase ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Malignant melanoma, somatic
ClinVar Annotator: match by term: Melanoma
ClinVar Annotator: match by term: MELANOMA, MALIGNANT, SOMATIC
CTD
ClinVar
PMID:1654209 PMID:2278970 PMID:2407301 PMID:2674680 PMID:2989702 More... NCBI chr 4:105,845,913...105,853,769
Ensembl chr 4:105,845,872...105,858,227
JBrowse link
G NT5DC1 5'-nucleotidase domain containing 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr 1:81,745,918...81,880,691
Ensembl chr 1:81,746,022...81,881,113
JBrowse link
G NUF2 NUF2 component of NDC80 kinetochore complex disease_progression ISO RGD PMID:27237743 RGD:28867234 NCBI chr 4:87,162,873...87,194,193
Ensembl chr 4:87,162,817...87,194,170
JBrowse link
G NUS1 NUS1 dehydrodolichyl diphosphate synthase subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr 1:44,156,771...44,186,224
Ensembl chr 1:44,156,778...44,186,194
JBrowse link
G P14ARF p14ARF protein susceptibility ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Malignant melanoma, somatic
ClinVar Annotator: match by term: Melanoma
ClinVar Annotator: match by term: MELANOMA, MALIGNANT, SOMATIC
DNA:point mutation, insertion:exon
CTD
ClinVar
RGD
PMID:7566978 PMID:7647780 PMID:7666917 PMID:7777061 PMID:7780957 More... RGD:1600812 RGD:8552300 NCBI chr 1:200,774,496...200,799,149
Ensembl chr 1:200,774,496...200,798,854
JBrowse link
G PARP1 poly(ADP-ribose) polymerase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28759004 NCBI chr10:14,203,157...14,241,164
Ensembl chr10:14,203,159...14,241,197
JBrowse link
G PAX4 paired box 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18949370 NCBI chr18:20,675,874...20,680,315
Ensembl chr18:20,673,167...20,680,287
JBrowse link
G PAX6 paired box 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16778180 NCBI chr 2:28,971,565...29,001,149
Ensembl chr 2:28,971,567...29,001,200
JBrowse link
G PDCD1 programmed cell death 1 treatment ISO CTD Direct Evidence: therapeutic
associated with influenza
CTD
RGD
PMID:21802280 PMID:27760326 RGD:40818261 NCBI chr15:140,337,353...140,347,493
Ensembl chr15:140,336,210...140,347,478
JBrowse link
G PDGFRA platelet derived growth factor receptor alpha ISO ClinVar Annotator: match by term: Melanoma ClinVar PMID:24132921 NCBI chr 8:40,966,568...41,021,440
Ensembl chr 8:40,967,493...41,021,442
JBrowse link
G PHGDH phosphoglycerate dehydrogenase ISO CTD Direct Evidence: marker/mechanism CTD PMID:21804546 NCBI chr 4:101,445,977...101,478,144
Ensembl chr 4:101,408,308...101,478,144
JBrowse link
G PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha ISO ClinVar Annotator: match by term: MELANOMA, MALIGNANT, SOMATIC
ClinVar Annotator: match by term: Malignant melanoma, somatic
ClinVar Annotator: match by term: Melanoma
ClinVar PMID:15016963 PMID:15254419 PMID:15520168 PMID:15608678 PMID:15647370 More... NCBI chr13:117,193,935...117,282,151
Ensembl chr13:117,180,544...117,277,232
JBrowse link
G PIK3R1 phosphoinositide-3-kinase regulatory subunit 1 ISO ClinVar Annotator: match by term: MELANOMA, MALIGNANT, SOMATIC ClinVar PMID:25157968 PMID:26619011 NCBI chr16:46,434,757...46,523,626
Ensembl chr16:46,434,873...46,523,609
JBrowse link
G PIP4K2A phosphatidylinositol-5-phosphate 4-kinase type 2 alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr10:52,224,367...52,408,928
Ensembl chr10:52,223,425...52,408,922
JBrowse link
G PKMYT1 protein kinase, membrane associated tyrosine/threonine 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr 3:39,201,819...39,209,261
Ensembl chr 3:39,201,878...39,209,263
JBrowse link
G PLCB4 phospholipase C beta 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21499247 NCBI chr17:17,915,984...18,402,540
Ensembl chr17:17,916,008...18,402,546
JBrowse link
G PMEL premelanosome protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:26640592 NCBI chr 5:21,355,611...21,365,609
Ensembl chr 5:21,355,619...21,365,068
JBrowse link
G POMC proopiomelanocortin ISO CTD Direct Evidence: therapeutic CTD PMID:24412703 NCBI chr 3:113,661,712...113,668,558 JBrowse link
G POT1 protection of telomeres 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: MELANOMA, MALIGNANT
CTD
ClinVar
PMID:24686846 PMID:24686849 PMID:28492532 NCBI chr18:22,885,704...22,981,893
Ensembl chr18:22,827,029...22,981,890
JBrowse link
G PPARD peroxisome proliferator activated receptor delta ISO CTD Direct Evidence: therapeutic CTD PMID:28962521 NCBI chr 7:31,222,533...31,295,221
Ensembl chr 7:31,222,589...31,295,212
JBrowse link
G PPARG peroxisome proliferator activated receptor gamma ISO CTD Direct Evidence: marker/mechanism|therapeutic CTD PMID:14512786 PMID:28962521 NCBI chr13:68,301,566...68,433,951
Ensembl chr13:68,302,655...68,433,947
JBrowse link
G PPARGC1A PPARG coactivator 1 alpha severity ISO mRNA:increased expression:tumor (human) RGD PMID:23416000 RGD:7241823 NCBI chr 8:17,841,844...18,527,953
Ensembl chr 8:17,841,844...17,961,909
JBrowse link
G PPP1R14B protein phosphatase 1 regulatory inhibitor subunit 14B ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr 2:7,865,445...7,867,878
Ensembl chr 2:7,865,436...7,867,882
JBrowse link
G PPP6C protein phosphatase 6 catalytic subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:22842228 NCBI chr 1:265,872,961...265,898,146
Ensembl chr 1:265,870,477...265,898,124
JBrowse link
G PRAME PRAME nuclear receptor transcriptional regulator ISO mRNA:increased expression:skin of body (human)
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:9047241 PMID:16179254 PMID:27505074 RGD:11535038 RGD:11535062 NCBI chr14:48,901,097...48,906,855 JBrowse link
G PRDX2 peroxiredoxin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16778180 NCBI chr 2:66,207,829...66,211,474
Ensembl chr 2:66,207,796...66,213,567
JBrowse link
G PRSS23 serine protease 23 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr 9:20,603,676...20,623,358
Ensembl chr 9:20,603,733...20,625,144
JBrowse link
G PTEN phosphatase and tensin homolog ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Melanoma
ClinVar Annotator: match by term: MELANOMA, MALIGNANT, SOMATIC
CTD
ClinVar
PMID:1097835 PMID:9467011 PMID:9915974 PMID:10866302 PMID:10978354 More... NCBI chr14:99,929,590...100,021,619 JBrowse link
G PTER phosphotriesterase related ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr10:45,368,515...45,440,294
Ensembl chr10:45,361,713...45,440,215
JBrowse link
G PTGS2 prostaglandin-endoperoxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17145863 PMID:17499752 PMID:18454317 NCBI chr 9:127,850,164...127,858,866
Ensembl chr 9:127,850,013...127,858,884
JBrowse link
G PTK2B protein tyrosine kinase 2 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:19718025 NCBI chr14:11,063,662...11,194,196
Ensembl chr14:11,064,492...11,194,194
JBrowse link
G PTPRK protein tyrosine phosphatase receptor type K ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 PMID:22842228 NCBI chr 1:34,693,363...35,258,699
Ensembl chr 1:34,693,367...35,258,701
JBrowse link
G PTPRO protein tyrosine phosphatase receptor type O ISO CTD Direct Evidence: marker/mechanism CTD PMID:21499247 NCBI chr 5:57,021,819...57,263,395
Ensembl chr 5:57,019,745...57,263,346
JBrowse link
G QPCT glutaminyl-peptide cyclotransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:17145863 NCBI chr 3:102,795,199...102,823,090
Ensembl chr 3:102,792,720...102,823,026
JBrowse link
G RAC1 Rac family small GTPase 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: MELANOMA, MALIGNANT, SOMATIC
CTD
ClinVar
PMID:22842228 PMID:25056119 PMID:26619011 NCBI chr 3:4,781,776...4,803,510
Ensembl chr 3:4,781,771...4,803,687
JBrowse link
G RAC2 Rac family small GTPase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17145863 NCBI chr 5:10,553,986...10,571,082
Ensembl chr 5:10,553,433...10,573,017
JBrowse link
G RAF1 Raf-1 proto-oncogene, serine/threonine kinase ISO 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 chr13:68,581,128...68,657,911
Ensembl chr13:68,580,812...68,657,829
JBrowse link
G RAI1 retinoic acid induced 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr12:60,751,159...60,854,710
Ensembl chr12:60,750,091...60,855,287
JBrowse link
G RAP1GAP RAP1 GTPase activating protein ISO CTD Direct Evidence: marker/mechanism
protein:decreased expression:epidermal melanocyte (human)
CTD
RGD
PMID:19147557 PMID:22614916 RGD:9835344 NCBI chr 6:79,664,486...79,735,361
Ensembl chr 6:79,664,485...79,735,363
JBrowse link
G RASA2 RAS p21 protein activator 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26214590 PMID:26502337 NCBI chr13:82,230,138...82,352,759
Ensembl chr13:82,230,131...82,352,757
JBrowse link
G RAX retina and anterior neural fold homeobox ISO CTD Direct Evidence: marker/mechanism CTD PMID:16778180 NCBI chr 1:161,679,154...161,683,486
Ensembl chr 1:161,679,154...161,683,060
JBrowse link
G REC8 REC8 meiotic recombination protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:16778180 NCBI chr 7:75,118,743...75,127,759
Ensembl chr 7:75,118,744...75,139,630
JBrowse link
G RFX6 regulatory factor X6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr 1:44,765,451...44,826,884
Ensembl chr 1:44,765,450...44,823,516
JBrowse link
G RHOB ras homolog family member B ISO RGD PMID:12606940 RGD:704376 NCBI chr 3:117,773,400...117,777,569
Ensembl chr 3:117,773,405...117,777,574
JBrowse link
G RIN1 Ras and Rab interactor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr 2:6,053,875...6,061,051 JBrowse link
G ROS1 ROS proto-oncogene 1, receptor tyrosine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr 1:44,409,877...44,535,784
Ensembl chr 1:44,409,931...44,534,874
JBrowse link
G RPP38 ribonuclease P/MRP subunit p38 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr10:46,720,135...46,725,962
Ensembl chr10:46,717,195...46,725,920
JBrowse link
G RPS3 ribosomal protein S3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr 9:9,612,939...9,630,404
Ensembl chr 9:9,616,456...9,630,413
JBrowse link
G S100A4 S100 calcium binding protein A4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29179997 NCBI chr 4:96,088,102...96,091,160
Ensembl chr 4:96,088,201...96,091,156
JBrowse link
G SAC3D1 SAC3 domain containing 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr 2:7,138,409...7,142,294
Ensembl chr 2:7,138,413...7,141,898
JBrowse link
G SDHD succinate dehydrogenase complex subunit D ISO CTD Direct Evidence: marker/mechanism CTD PMID:25261935 NCBI chr 9:39,790,654...39,803,602
Ensembl chr 9:39,790,561...39,803,946
JBrowse link
G SETDB1 SET domain bifurcated histone lysine methyltransferase 1 severity ISO CTD Direct Evidence: marker/mechanism
protein:increased expression:dermis, subcutis, nucleus (human)
CTD
RGD
PMID:21983785 PMID:24673285 RGD:9590162 NCBI chr 4:98,259,801...98,293,238
Ensembl chr 4:98,260,373...98,293,096
JBrowse link
G SF1 splicing factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr 2:7,391,295...7,404,693 JBrowse link
G SIPA1 signal-induced proliferation-associated 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr 2:6,606,613...6,618,556
Ensembl chr 2:6,606,626...6,618,578
JBrowse link
G SLC15A2 solute carrier family 15 member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22842228 NCBI chr13:138,595,942...138,634,473
Ensembl chr13:138,595,954...138,681,573
JBrowse link
G SLC17A5 solute carrier family 17 member 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21499247 NCBI chr 1:92,286,821...92,342,788
Ensembl chr 1:92,286,841...92,342,786
JBrowse link
G SLC25A45 solute carrier family 25 member 45 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr 2:6,851,101...6,857,886
Ensembl chr 2:6,851,605...6,857,880
JBrowse link
G SLC35G2 solute carrier family 35 member G2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16778180 NCBI chr13:77,825,191...77,858,537
Ensembl chr13:77,825,178...77,861,774
JBrowse link
G SLC39A12 solute carrier family 39 member 12 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr10:44,239,279...44,320,974
Ensembl chr10:44,239,274...44,320,974
JBrowse link
G SLC45A2 solute carrier family 45 member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18563784 PMID:21559390 NCBI chr16:19,958,315...20,002,198
Ensembl chr16:19,952,451...20,023,285
JBrowse link
G SLC5A5 solute carrier family 5 member 5 ISO CTD Direct Evidence: therapeutic CTD PMID:12489024 NCBI chr 2:59,869,157...59,885,086
Ensembl chr 2:59,869,154...59,885,265
JBrowse link
G SLC6A11 solute carrier family 6 member 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21499247 NCBI chr13:66,998,113...67,115,918
Ensembl chr13:66,998,336...67,115,914
JBrowse link
G SNAPC5 small nuclear RNA activating complex polypeptide 5 ISO ClinVar Annotator: match by term: Melanoma ClinVar PMID:22197931 NCBI chr 1:164,459,111...164,475,053
Ensembl chr 1:164,466,973...164,474,978
JBrowse link
G SOD2 superoxide dismutase 2 ISO protein:increased expression:serum: RGD PMID:8541726 RGD:8547533 NCBI chr 1:7,679,352...7,689,564
Ensembl chr 1:7,651,280...7,691,723
JBrowse link
G SOX2 SRY-box transcription factor 2 disease_progression ISO RGD PMID:21410764 RGD:8661664 NCBI chr13:119,668,476...119,669,435 JBrowse link
G SPP1 secreted phosphoprotein 1 ISO RGD PMID:15757900 RGD:1581337 NCBI chr 8:131,077,786...131,085,334
Ensembl chr 8:131,077,786...131,085,340
JBrowse link
G STIP1 stress induced phosphoprotein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr 2:7,911,443...7,939,000
Ensembl chr 2:7,911,445...7,939,005
JBrowse link
G STK11 serine/threonine kinase 11 ISO ClinVar Annotator: match by term: MELANOMA, MALIGNANT
ClinVar Annotator: match by term: Malignant melanoma
ClinVar PMID:10201537 PMID:10208439 PMID:25157968 NCBI chr 2:77,229,888...77,249,322
Ensembl chr 2:77,230,372...77,249,327
JBrowse link
G STK19 serine/threonine kinase 19 ISO ClinVar Annotator: match by term: MELANOMA, MALIGNANT, SOMATIC ClinVar PMID:26619011 NCBI chr 7:24,060,226...24,067,398
Ensembl chr 7:24,059,452...24,067,383
JBrowse link
G STX17 syntaxin 17 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18641652 NCBI chr 1:241,657,463...241,785,270
Ensembl chr 1:241,657,506...241,765,783
JBrowse link
G SUZ12 SUZ12 polycomb repressive complex 2 subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:25119042 NCBI chr12:42,983,597...43,032,671
Ensembl chr12:42,983,997...43,032,644
JBrowse link
G SYK spleen associated tyrosine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:17145863 NCBI chr14:2,103,706...2,160,886
Ensembl chr14:2,056,712...2,161,172
JBrowse link
G SYT4 synaptotagmin 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21499247 NCBI chr 6:127,382,248...127,392,258
Ensembl chr 6:127,382,260...127,392,167
JBrowse link
G TAS2R60 taste 2 receptor member 60 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21499247 NCBI chr18:6,806,911...6,808,689
Ensembl chr18:6,807,649...6,808,593
JBrowse link
G TERT telomerase reverse transcriptase ISO CTD Direct Evidence: therapeutic
mRNA:increased expression:plasma
CTD
RGD
PMID:14654933 PMID:20856939 RGD:2291969 NCBI chr16:79,258,591...79,276,421
Ensembl chr16:79,258,591...79,276,421
JBrowse link
G TFPI2 tissue factor pathway inhibitor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17372906 NCBI chr 9:73,684,236...73,694,663
Ensembl chr 9:73,673,535...73,689,095
JBrowse link
G TLR4 toll like receptor 4 ISO CTD Direct Evidence: marker/mechanism
DNA:polymorphisms:exons:p.D299G (896A>G)(human;)
CTD
RGD
PMID:22552381 PMID:22842228 RGD:7777154 NCBI chr 1:258,044,610...258,054,641
Ensembl chr 1:258,044,610...258,059,004
JBrowse link
G TMEM132B transmembrane protein 132B ISO CTD Direct Evidence: marker/mechanism CTD PMID:21499247 NCBI chr14:27,705,783...27,790,776 JBrowse link
G TMEM30B transmembrane protein 30B ISO CTD Direct Evidence: marker/mechanism CTD PMID:16778180 NCBI chr 1:190,161,201...190,171,726 JBrowse link
G TNC tenascin C ISO CTD Direct Evidence: marker/mechanism CTD PMID:22842228 NCBI chr 1:255,533,235...255,630,381
Ensembl chr 1:255,532,449...255,630,377
JBrowse link
G TNF tumor necrosis factor ISO CTD Direct Evidence: therapeutic CTD PMID:9794839 PMID:9843018 PMID:10379864 PMID:18388930 NCBI chr 7:23,699,635...23,702,393
Ensembl chr 7:23,699,636...23,703,655
JBrowse link
G TNFRSF19 TNF receptor superfamily member 19 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17187358 NCBI chr11:2,469,306...2,640,737
Ensembl chr11:2,543,764...2,640,738
JBrowse link
G TP53 tumor protein p53 ISO DNA:polymorphism:cds:p.R72P(human)
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
RGD
ClinVar
CTD
PMID:1349175 PMID:1359493 PMID:1565143 PMID:1565144 PMID:1569604 More... RGD:8547796 RGD:8547833 NCBI chr12:52,939,643...52,953,786
Ensembl chr12:52,939,643...52,953,819
JBrowse link
G TRRAP transformation/transcription domain associated protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:21499247 NCBI chr 3:5,903,205...6,029,343
Ensembl chr 3:5,909,237...6,029,340
JBrowse link
G TSPYL4 TSPY like 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr 1:81,888,946...81,893,643 JBrowse link
G TYR tyrosinase disease_progression ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:8609659 PMID:18488027 PMID:19578364 PMID:21559390 PMID:22834951 More... RGD:8694384 RGD:8694387 NCBI chr 9:22,517,047...22,604,290
Ensembl chr 9:22,517,047...22,604,290
JBrowse link
G TYRP1 tyrosinase related protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26640592 NCBI chr 1:209,725,698...209,745,141
Ensembl chr 1:209,725,636...209,745,705
JBrowse link
G USP6NL USP6 N-terminal like ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr10:60,193,505...60,398,399
Ensembl chr10:60,240,912...60,396,617
JBrowse link
G VDR vitamin D receptor severity
disease_progression
ISO DNA:SNP:promoter:rs4516035 (human)
DNA:SNPs:exons: (rs731236, rs2228570) (human)
RGD PMID:10690530 PMID:19105801 RGD:8158067 RGD:8158068 NCBI chr 5:78,205,807...78,266,505
Ensembl chr 5:78,205,810...78,267,321
JBrowse link
G VEGFA vascular endothelial growth factor A disease_progression ISO RGD PMID:12946796 RGD:7421569 NCBI chr 7:38,746,393...38,762,282
Ensembl chr 7:38,746,052...38,761,038
JBrowse link
G VEGFC vascular endothelial growth factor C ISO CTD Direct Evidence: marker/mechanism CTD PMID:17562445 NCBI chr15:39,037,764...39,136,234
Ensembl chr15:39,037,893...39,133,041
JBrowse link
G VGLL2 vestigial like family member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr 1:44,549,407...44,557,793
Ensembl chr 1:44,549,410...44,557,797
JBrowse link
G WDR74 WD repeat domain 74 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr 2:8,931,530...8,936,908
Ensembl chr 2:8,928,980...8,937,611
JBrowse link
G WFDC1 WAP four-disulfide core domain 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17145863 NCBI chr 6:4,333,729...4,365,122
Ensembl chr 6:4,333,731...4,399,237
JBrowse link
G XRCC3 X-ray repair cross complementing 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11059748
G ZNF438 zinc finger protein 438 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22535842 NCBI chr10:41,574,352...42,014,391
Ensembl chr10:41,574,147...41,773,668
JBrowse link
G ZNF831 zinc finger protein 831 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21499247 NCBI chr17:59,277,242...59,386,483
Ensembl chr17:59,276,948...59,383,853
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 P14ARF p14ARF protein ISO OMIM NCBI chr 1:200,774,496...200,799,149
Ensembl chr 1:200,774,496...200,798,854
JBrowse link
Melanoma-Pancreatic Cancer Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G P14ARF p14ARF protein ISO OMIM NCBI chr 1:200,774,496...200,799,149
Ensembl chr 1:200,774,496...200,798,854
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 ISO DNA:mutation: :T1796A(human)
DNA:mutation:cds:p.V600E(human)
RGD PMID:14984580 PMID:25490715 RGD:11567234 RGD:11567261 NCBI chr18:8,957,963...9,132,558
Ensembl chr18:8,957,959...9,132,553
JBrowse link
G MTAP methylthioadenosine phosphorylase ISO CTD Direct Evidence: marker/mechanism CTD PMID:19578365 NCBI chr 1:200,882,954...200,934,389
Ensembl chr 1:200,882,955...200,934,639
JBrowse link
G PLA2G6 phospholipase A2 group VI ISO CTD Direct Evidence: marker/mechanism CTD PMID:19578365 NCBI chr 5:9,713,809...9,777,921
Ensembl chr 5:9,685,214...9,777,922
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 ISO OMIM NCBI chr 7:98,275,973...98,322,072
Ensembl chr 7:98,275,976...98,322,469
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 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25231345 NCBI chr13:34,544,570...34,553,538
Ensembl chr13:34,544,575...34,553,621
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 ISO ClinVar Annotator: match by term: PIGMENTED MOLES ClinVar PMID:16170316 PMID:16329078 PMID:16372351 PMID:16443854 PMID:16835863 More... NCBI chr 2:299,662...302,539
Ensembl chr 2:299,660...302,501
JBrowse link
G LRRC56 leucine rich repeat containing 56 ISO ClinVar Annotator: match by term: PIGMENTED MOLES ClinVar PMID:16170316 PMID:16329078 PMID:16372351 PMID:16443854 PMID:16835863 More... NCBI chr 2:303,836...323,701
Ensembl chr 2:304,429...323,700
JBrowse link
G NF1 neurofibromin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25119042 NCBI chr12:43,487,098...43,754,205
Ensembl chr12:43,489,171...43,754,176
JBrowse link
G NRAS NRAS proto-oncogene, GTPase ISO ClinVar Annotator: match by term: PIGMENTED MOLES ClinVar PMID:1654209 PMID:2278970 PMID:2674680 PMID:3102434 PMID:3122217 More... NCBI chr 4:105,845,913...105,853,769
Ensembl chr 4:105,845,872...105,858,227
JBrowse link
G SUZ12 SUZ12 polycomb repressive complex 2 subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:25119042 NCBI chr12:42,983,597...43,032,671
Ensembl chr12:42,983,997...43,032,644
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 ISO ClinVar Annotator: match by term: Sebaceous nevus syndrome and hemimegalencephaly ClinVar PMID:12835555 PMID:16170316 PMID:16329078 PMID:16372351 PMID:16443854 More... NCBI chr 2:299,662...302,539
Ensembl chr 2:299,660...302,501
JBrowse link
G KRAS KRAS proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Sebaceous nevus syndrome and hemimegalencephaly ClinVar PMID:2278970 PMID:3122217 PMID:7773929 PMID:8439212 PMID:12460918 More... NCBI chr 5:48,508,774...48,546,260
Ensembl chr 5:48,508,790...48,549,346
JBrowse link
G LRRC56 leucine rich repeat containing 56 ISO ClinVar Annotator: match by term: Sebaceous nevus syndrome and hemimegalencephaly ClinVar PMID:12835555 PMID:16170316 PMID:16329078 PMID:16372351 PMID:16443854 More... NCBI chr 2:303,836...323,701
Ensembl chr 2:304,429...323,700
JBrowse link
G NRAS NRAS proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Sebaceous nevus syndrome and hemimegalencephaly ClinVar PMID:1654209 PMID:2278970 PMID:2674680 PMID:3122217 PMID:6587382 More... NCBI chr 4:105,845,913...105,853,769
Ensembl chr 4:105,845,872...105,858,227
JBrowse link
skin melanoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AGT angiotensinogen ISO protein:increased expression:serum RGD PMID:19394758 RGD:8548874 NCBI chr14:59,643,030...59,656,835
Ensembl chr14:59,643,292...59,672,428
JBrowse link
G AKT1 AKT serine/threonine kinase 1 ISO ClinVar Annotator: match by term: Malignant melanoma of skin ClinVar PMID:17611497 PMID:18256540 PMID:18392055 PMID:18504432 PMID:18611285 More...
G ARAF A-Raf proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: Malignant melanoma of skin ClinVar PMID:24569458 PMID:26619011 NCBI chr  X:42,078,202...42,090,250
Ensembl chr  X:42,078,195...42,090,247
JBrowse link
G B2M beta-2-microglobulin ISO ClinVar Annotator: match by term: Malignant melanoma of skin ClinVar PMID:26619011 NCBI chr 1:126,865,767...126,878,501
Ensembl chr 1:126,835,143...126,981,582
JBrowse link
G BAP1 BRCA1 associated protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25231345 PMID:26719535 NCBI chr13:34,544,570...34,553,538
Ensembl chr13:34,544,575...34,553,621
JBrowse link
G BCL2L12 BCL2 like 12 ISO ClinVar Annotator: match by term: Malignant melanoma of skin ClinVar PMID:26619011 NCBI chr 6:54,706,453...54,715,127
Ensembl chr 6:54,707,237...54,715,127
JBrowse link
G BRAF B-Raf proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: Malignant melanoma of skin
ClinVar Annotator: match by term: Cutaneous melanoma
ClinVar PMID:2493360 PMID:12068308 PMID:12198537 PMID:12438234 PMID:12447372 More... NCBI chr18:8,957,963...9,132,558
Ensembl chr18:8,957,959...9,132,553
JBrowse link
G BRCA2 BRCA2 DNA repair associated disease_progression ISO DNA:SNP: :rs206118, rs3752447, rs10492396 (human) RGD PMID:25243787 RGD:11344896 NCBI chr11:8,805,950...8,858,128 JBrowse link
G CCL2 chemokine (C-C motif) ligand 2 disease_progression ISO DNA:SNP: :2578A>G (human) RGD PMID:17169533 RGD:9491398 NCBI chr12:40,798,109...40,800,013
Ensembl chr12:40,798,109...40,800,028
JBrowse link
G CD40 CD40 molecule disease_progression ISO RGD PMID:8952530 RGD:8547772 NCBI chr17:48,286,116...48,298,188
Ensembl chr17:48,286,029...48,298,528
JBrowse link
G CDK4 cyclin dependent kinase 4 ISO ClinVar Annotator: match by term: Malignant melanoma of skin ClinVar PMID:5377176 PMID:7652577 PMID:8528263 PMID:8968104 PMID:9228064 More... NCBI chr 5:23,039,206...23,041,959
Ensembl chr 5:23,038,889...23,042,061
JBrowse link
G CHAF1B chromatin assembly factor 1 subunit B severity ISO protein:increased expression:skin: RGD PMID:20178651 RGD:9587476 NCBI chr13:200,048,096...200,074,902
Ensembl chr13:200,048,131...200,072,556
JBrowse link
G CNOT9 CCR4-NOT transcription complex subunit 9 ISO ClinVar Annotator: match by term: Malignant melanoma of skin ClinVar PMID:26619011 NCBI chr15:120,590,354...120,622,203
Ensembl chr15:120,590,641...120,669,825
JBrowse link
G CNR1 cannabinoid receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28131817 NCBI chr 1:56,466,022...56,493,275
Ensembl chr 1:56,466,027...56,492,602
JBrowse link
G CREB1 cAMP responsive element binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29179997 NCBI chr15:110,705,548...110,773,037
Ensembl chr15:110,697,408...110,771,755
JBrowse link
G CREBBP CREB binding protein ISO ClinVar Annotator: match by term: Malignant melanoma of skin ClinVar PMID:21390126 PMID:21680795 PMID:21796119 PMID:22832583 PMID:23334668 More... NCBI chr 3:38,388,366...38,530,243
Ensembl chr 3:38,388,547...38,530,230
JBrowse link
G CRNKL1 crooked neck pre-mRNA splicing factor 1 ISO ClinVar Annotator: match by term: Malignant melanoma of skin ClinVar PMID:26619011 NCBI chr17:28,079,541...28,111,871
Ensembl chr17:28,077,707...28,111,545
JBrowse link
G CTNNB1 catenin beta 1 ISO ClinVar Annotator: match by term: Cutaneous melanoma
ClinVar Annotator: match by term: Malignant melanoma of skin
ClinVar PMID:9065402 PMID:9065403 PMID:9294210 PMID:9500465 PMID:9927029 More... NCBI chr13:25,163,550...25,208,314
Ensembl chr13:25,137,173...25,208,311
JBrowse link
G DNMT3B DNA methyltransferase 3 beta disease_progression ISO RGD PMID:21081840 RGD:9589074 NCBI chr17:36,345,715...36,386,076
Ensembl chr17:36,332,801...36,386,074
JBrowse link
G ERBB2 erb-b2 receptor tyrosine kinase 2 ISO ClinVar Annotator: match by term: Malignant melanoma of skin ClinVar PMID:18413839 PMID:22046346 PMID:23220880 PMID:25157968 PMID:26619011 NCBI chr12:22,591,621...22,621,384
Ensembl chr12:22,590,725...22,621,351
JBrowse link
G EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit ISO ClinVar Annotator: match by term: Malignant melanoma of skin ClinVar PMID:23023262 PMID:24563539 PMID:26619011 NCBI chr 9:109,384,976...109,450,943
Ensembl chr 9:109,384,995...109,450,941
JBrowse link
G FANCA FA complementation group A disease_progression ISO DNA:SNP: :rs62068372 (human) RGD PMID:25243787 RGD:11344896 NCBI chr 6:253,207...300,159
Ensembl chr 6:253,224...300,155
JBrowse link
G FANCD2 FA complementation group D2 ISO mRNA,protein:increased expression:skin,nucleus: RGD PMID:21697891 RGD:11046262 NCBI chr13:66,241,951...66,308,601
Ensembl chr13:66,241,673...66,310,436
JBrowse link
G FBXW7 F-box and WD repeat domain containing 7 ISO ClinVar Annotator: match by term: Malignant melanoma of skin ClinVar PMID:25741868 PMID:26619011 NCBI chr 8:76,482,027...76,699,354
Ensembl chr 8:76,482,022...76,699,351
JBrowse link
G GNA11 G protein subunit alpha 11 ISO ClinVar Annotator: match by term: Cutaneous melanoma ClinVar PMID:1328859 PMID:2549426 PMID:21083380 PMID:21444680 PMID:22733540 More... NCBI chr 2:75,439,405...75,456,855
Ensembl chr 2:75,437,201...75,457,092
JBrowse link
G GNAS GNAS complex locus ISO ClinVar Annotator: match by term: Malignant melanoma of skin ClinVar PMID:1594625 PMID:1944469 PMID:2549426 PMID:3720010 PMID:7739708 More... NCBI chr17:58,985,580...59,053,022
Ensembl chr17:58,998,981...59,053,021
JBrowse link
G HIF1A hypoxia inducible factor 1 subunit alpha ISO protein:increased expression:epidermis (human) RGD PMID:19558170 RGD:8695922 NCBI chr 1:190,625,436...190,673,926
Ensembl chr 1:190,625,181...190,674,850
JBrowse link
G HRAS HRas proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Malignant melanoma of skin ClinVar PMID:1904555 PMID:3510078 PMID:11150980 PMID:12835555 PMID:16155195 More... NCBI chr 2:299,662...302,539
Ensembl chr 2:299,660...302,501
JBrowse link
G ICAM1 intercellular adhesion molecule 1 disease_progression ISO DNA:missense mutation:exon:p.R241G (human) RGD PMID:16313300 RGD:8547698 NCBI chr 2:69,097,136...69,107,722
Ensembl chr 2:69,097,122...69,108,205
JBrowse link
G IDH1 isocitrate dehydrogenase (NADP(+)) 1 ISO ClinVar Annotator: match by term: Malignant melanoma of skin ClinVar PMID:18772396 PMID:19657110 PMID:19798509 PMID:19818334 PMID:20946881 More... NCBI chr15:111,341,153...111,362,330
Ensembl chr15:111,341,152...111,362,280
JBrowse link
G JMJD6 jumonji domain containing 6, arginine demethylase and lysine hydroxylase ISO CTD Direct Evidence: marker/mechanism CTD PMID:30619488 NCBI chr12:4,809,014...4,819,853
Ensembl chr12:4,808,691...4,818,062
JBrowse link
G KIT KIT proto-oncogene, receptor tyrosine kinase ISO ClinVar Annotator: match by term: Malignant melanoma of skin
ClinVar Annotator: match by term: Cutaneous melanoma
ClinVar PMID:7513208 PMID:7530509 PMID:8589724 PMID:9438854 PMID:9657776 More... NCBI chr 8:41,402,334...41,492,306
Ensembl chr 8:41,402,043...41,493,735
JBrowse link
G KRAS KRAS proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Malignant melanoma of skin ClinVar PMID:2278970 PMID:3122217 PMID:12460918 PMID:15696205 PMID:16361624 More... NCBI chr 5:48,508,774...48,546,260
Ensembl chr 5:48,508,790...48,549,346
JBrowse link
G LRRC56 leucine rich repeat containing 56 ISO ClinVar Annotator: match by term: Malignant melanoma of skin ClinVar PMID:1904555 PMID:3510078 PMID:11150980 PMID:12835555 PMID:16155195 More... NCBI chr 2:303,836...323,701
Ensembl chr 2:304,429...323,700
JBrowse link
G MAP2K1 mitogen-activated protein kinase kinase 1 ISO ClinVar Annotator: match by term: Malignant melanoma of skin
ClinVar Annotator: match by term: Cutaneous melanoma
ClinVar PMID:7651428 PMID:17366577 PMID:17551924 PMID:18632602 PMID:19915144 More... NCBI chr 1:164,381,892...164,469,313
Ensembl chr 1:164,381,845...164,471,226
JBrowse link
G MAP2K2 mitogen-activated protein kinase kinase 2 ISO ClinVar Annotator: match by term: Malignant melanoma of skin ClinVar PMID:18042262 PMID:26619011 NCBI chr 2:74,626,739...74,651,352
Ensembl chr 2:74,626,658...74,651,348
JBrowse link
G MITF melanocyte inducing transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:22080950 NCBI chr13:51,177,356...51,422,096
Ensembl chr13:51,178,203...51,422,096
JBrowse link
G MMP1 matrix metallopeptidase 1 disease_progression ISO DNA:SNPs, haplotype:promoter:multiple
DNA:polymorphisms, haplotypes:promoter:multiple
RGD PMID:20655738 PMID:22198560 RGD:8549726 RGD:8549727 NCBI chr 9:33,411,738...33,420,205
Ensembl chr 9:33,411,065...33,454,000
JBrowse link
G MMP2 matrix metallopeptidase 2 severity ISO mRNA:increased expression:skin RGD PMID:12404291 PMID:18251742 PMID:20966734 RGD:13204786 RGD:8657055 RGD:8657075 NCBI chr 6:30,059,247...30,087,031
Ensembl chr 6:30,058,594...30,086,982
JBrowse link
G MMP9 matrix metallopeptidase 9 disease progression ISO DNA:SNP, missense mutations:promoter, cds:-1562C>T,p.R279Q, p.P574R (human) RGD PMID:12404291 PMID:17346338 RGD:13204786 RGD:8547886 NCBI chr17:48,179,690...48,186,782
Ensembl chr17:48,175,056...48,188,264
JBrowse link
G MTOR mechanistic target of rapamycin kinase ISO ClinVar Annotator: match by term: Malignant melanoma of skin
ClinVar Annotator: match by term: Cutaneous melanoma
ClinVar PMID:20190810 PMID:24631838 PMID:26018084 PMID:26619011 PMID:27159400 More... NCBI chr 6:71,286,989...71,412,913
Ensembl chr 6:71,286,989...71,412,888
JBrowse link
G MYC MYC proto-oncogene, bHLH transcription factor ISO ClinVar Annotator: match by term: Malignant melanoma of skin ClinVar PMID:25157968 PMID:26619011 NCBI chr 4:12,455,141...12,460,360
Ensembl chr 4:12,455,119...12,461,078
JBrowse link
G NRAS NRAS proto-oncogene, GTPase ISO 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 4:105,845,913...105,853,769
Ensembl chr 4:105,845,872...105,858,227
JBrowse link
G OCA2 OCA2 melanosomal transmembrane protein susceptibility ISO DNA:snp:cds:p.R419Q (rs1800407) (human)
DNA:snps:exon, intron:multiple (human)
DNA:missense mutation:cds:p.H615R (rs1800414) (human)
RGD PMID:15889046 PMID:19710684 PMID:24617981 RGD:9491818 RGD:9491829 RGD:9491831 NCBI chr15:56,657,648...56,869,920 JBrowse link
G P14ARF p14ARF protein ISO 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)
RGD
ClinVar
CTD
PMID:7777061 PMID:7780957 PMID:8521414 PMID:8595405 PMID:8668202 More... RGD:8552276 RGD:8552302 NCBI chr 1:200,774,496...200,799,149
Ensembl chr 1:200,774,496...200,798,854
JBrowse link
G PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha ISO ClinVar Annotator: match by term: Malignant melanoma of skin
ClinVar Annotator: match by term: Cutaneous melanoma
ClinVar PMID:15016963 PMID:15254419 PMID:15520168 PMID:15608678 PMID:15647370 More... NCBI chr13:117,193,935...117,282,151
Ensembl chr13:117,180,544...117,277,232
JBrowse link
G PIK3R1 phosphoinositide-3-kinase regulatory subunit 1 ISO ClinVar Annotator: match by term: Malignant melanoma of skin ClinVar PMID:19962457 PMID:25157968 PMID:26619011 NCBI chr16:46,434,757...46,523,626
Ensembl chr16:46,434,873...46,523,609
JBrowse link
G POT1 protection of telomeres 1 ISO ClinVar Annotator: match by term: DYSPLASTIC NEVUS SYNDROME, HEREDITARY ClinVar PMID:24686846 PMID:28492532 NCBI chr18:22,885,704...22,981,893
Ensembl chr18:22,827,029...22,981,890
JBrowse link
G PPP6C protein phosphatase 6 catalytic subunit ISO ClinVar Annotator: match by term: Malignant melanoma of skin ClinVar PMID:26619011 NCBI chr 1:265,872,961...265,898,146
Ensembl chr 1:265,870,477...265,898,124
JBrowse link
G PTEN phosphatase and tensin homolog ISO ClinVar Annotator: match by term: Malignant melanoma of skin ClinVar PMID:9467011 PMID:9915974 PMID:10866302 PMID:11504908 PMID:11875759 More... NCBI chr14:99,929,590...100,021,619 JBrowse link
G RAC1 Rac family small GTPase 1 ISO ClinVar Annotator: match by term: Cutaneous melanoma
ClinVar Annotator: match by term: Malignant melanoma of skin
ClinVar PMID:25056119 PMID:26619011 NCBI chr 3:4,781,776...4,803,510
Ensembl chr 3:4,781,771...4,803,687
JBrowse link
G RAF1 Raf-1 proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: Malignant melanoma of skin ClinVar PMID:1760348 PMID:8601312 PMID:10064593 PMID:12077328 PMID:17603482 More... NCBI chr13:68,581,128...68,657,911
Ensembl chr13:68,580,812...68,657,829
JBrowse link
G SF3B1 splicing factor 3b subunit 1 ISO ClinVar Annotator: match by term: Malignant melanoma of skin ClinVar PMID:23634996 PMID:26619011 NCBI chr15:101,274,968...101,338,018
Ensembl chr15:101,191,854...101,338,023
JBrowse link
G SF3B2 splicing factor 3b subunit 2 ISO ClinVar Annotator: match by term: Malignant melanoma of skin ClinVar PMID:26619011 NCBI chr 2:6,279,039...6,295,550
Ensembl chr 2:6,279,048...6,294,640
JBrowse link
G SLC45A2 solute carrier family 45 member 2 ISO ClinVar Annotator: match by term: Malignant melanoma of skin ClinVar PMID:15714523 PMID:17044855 PMID:17999355 PMID:18563784 PMID:18683857 More... NCBI chr16:19,958,315...20,002,198
Ensembl chr16:19,952,451...20,023,285
JBrowse link
G STAT3 signal transducer and activator of transcription 3 disease_progression ISO RGD PMID:21876460 RGD:8694297 NCBI chr12:20,407,316...20,471,091
Ensembl chr12:20,407,233...20,472,993
JBrowse link
G STK11 serine/threonine kinase 11 ISO ClinVar Annotator: match by term: FAMILIAL ATYPICAL MOLE-MALIGNANT MELANOMA SYNDROME ClinVar PMID:10201537 PMID:10208439 PMID:25157968 NCBI chr 2:77,229,888...77,249,322
Ensembl chr 2:77,230,372...77,249,327
JBrowse link
G STK19 serine/threonine kinase 19 ISO ClinVar Annotator: match by term: Malignant melanoma of skin ClinVar PMID:26619011 NCBI chr 7:24,060,226...24,067,398
Ensembl chr 7:24,059,452...24,067,383
JBrowse link
G TP53 tumor protein p53 ISO 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 More... NCBI chr12:52,939,643...52,953,786
Ensembl chr12:52,939,643...52,953,819
JBrowse link
G TYR tyrosinase susceptibility ISO DNA:missense mutation:cds:p.R402Q(human) RGD PMID:21906913 RGD:8694390 NCBI chr 9:22,517,047...22,604,290
Ensembl chr 9:22,517,047...22,604,290
JBrowse link
G VDR vitamin D receptor susceptibility
no_association
ISO DNA:missense mutation, silent mutation: :p,M1T, p.I352 (c.1056T>C) (rs2228570, rs731236) (human)
DNA:SNPs: :multiple
RGD PMID:16990805 PMID:19615888 PMID:22576141 RGD:8157629 RGD:8158071 RGD:8158075 NCBI chr 5:78,205,807...78,266,505
Ensembl chr 5:78,205,810...78,267,321
JBrowse link
uveal melanoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BAP1 BRCA1 associated protein 1 disease_progression ISO mRNA,protein:decreased expression: :
ClinVar Annotator: match by term: Uveal melanoma
CTD Direct Evidence: marker/mechanism
RGD
ClinVar
CTD
PMID:21874000 PMID:25147369 PMID:25231345 PMID:26719535 PMID:31186267 RGD:9586037 NCBI chr13:34,544,570...34,553,538
Ensembl chr13:34,544,575...34,553,621
JBrowse link
G BRCA2 BRCA2 DNA repair associated susceptibility ISO DNA:mutations: : RGD PMID:22187320 RGD:9068467 NCBI chr11:8,805,950...8,858,128 JBrowse link
G CRP C-reactive protein, pentraxin-related disease_progression ISO RGD PMID:23057648 RGD:9491834 NCBI chr 4:90,793,361...90,801,020
Ensembl chr 4:90,722,352...90,805,236
JBrowse link
G CYSLTR2 cysteinyl leukotriene receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27089179 NCBI chr11:18,988,665...19,011,015
Ensembl chr11:18,987,174...19,011,015
JBrowse link
G EIF1AX eukaryotic translation initiation factor 1A X-linked ISO CTD Direct Evidence: marker/mechanism CTD PMID:23793026 NCBI chr  X:16,429,625...16,449,581
Ensembl chr  X:16,429,627...16,449,557
JBrowse link
G GNA11 G protein subunit alpha 11 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Melanoma of the Uvea
CTD
ClinVar
PMID:1328859 PMID:2549426 PMID:21083380 PMID:21444680 PMID:22733540 More... NCBI chr 2:75,439,405...75,456,855
Ensembl chr 2:75,437,201...75,457,092
JBrowse link
G GNAQ G protein subunit alpha q ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Melanoma of the Uvea
CTD
ClinVar
PMID:1328859 PMID:2549426 PMID:18719078 PMID:19078957 PMID:21083380 More... NCBI chr 1:230,607,469...230,906,988
Ensembl chr 1:230,605,229...230,907,675
JBrowse link
G IGF1 insulin like growth factor 1 disease_progression ISO RGD PMID:23197685 RGD:8548834 NCBI chr 5:81,762,027...81,909,253
Ensembl chr 5:81,775,970...81,848,037
JBrowse link
G JMJD6 jumonji domain containing 6, arginine demethylase and lysine hydroxylase ISO CTD Direct Evidence: marker/mechanism CTD PMID:30619488 NCBI chr12:4,809,014...4,819,853
Ensembl chr12:4,808,691...4,818,062
JBrowse link
G KDM5B lysine demethylase 5B severity ISO protein:increased expression:uvea (human) RGD PMID:22669717 RGD:9587775 NCBI chr10:24,739,115...24,831,537
Ensembl chr10:24,736,834...24,831,447
JBrowse link
G KDR kinase insert domain receptor disease_progression ISO RGD PMID:21984395 RGD:8549718 NCBI chr 8:41,809,116...41,856,379
Ensembl chr 8:41,809,116...41,856,339
JBrowse link
G MCAM melanoma cell adhesion molecule disease_progression ISO RGD PMID:19958117 RGD:7364775 NCBI chr 9:46,506,375...46,522,091
Ensembl chr 9:46,512,784...46,522,083
JBrowse link
G PLCB4 phospholipase C beta 4 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Uveal melanoma
CTD
ClinVar
PMID:27089179 PMID:31186267 NCBI chr17:17,915,984...18,402,540
Ensembl chr17:17,916,008...18,402,546
JBrowse link
G PRAME PRAME nuclear receptor transcriptional regulator severity ISO mRNA:increased expression:uvea (human) RGD PMID:27486988 RGD:11535039 NCBI chr14:48,901,097...48,906,855 JBrowse link
G SERPINE1 serpin family E member 1 treatment ISO human gene in mouse model RGD PMID:9326241 RGD:8547806 NCBI chr 3:8,863,738...8,871,572
Ensembl chr 3:8,863,695...8,871,564
JBrowse link
G SERPINF1 serpin family F member 1 severity ISO RGD PMID:23793989 RGD:8554893 NCBI chr12:47,949,004...47,959,471
Ensembl chr12:47,943,051...47,959,472
JBrowse link
G SF3B1 splicing factor 3b subunit 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23313955 PMID:23793026 NCBI chr15:101,274,968...101,338,018
Ensembl chr15:101,191,854...101,338,023
JBrowse link
G TMEM127 transmembrane protein 127 ISO ClinVar Annotator: match by term: Uveal melanoma ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:46,966,858...47,017,659
Ensembl chr 3:46,966,890...47,017,659
JBrowse link
G VEGFA vascular endothelial growth factor A ISO protein:increased expression:iris, ciliary body, vitreous body; RGD PMID:11914216 RGD:7483591 NCBI chr 7:38,746,393...38,762,282
Ensembl chr 7:38,746,052...38,761,038
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 13630
    disease of cellular proliferation 6544
      Neoplasms by Histologic Type 4494
        Nevi and Melanomas 331
          Nevus + 18
          melanoma + 327
paths to the root