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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:skin cancer
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Accession:DOID:4159 term browser browse the term
Definition:An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells. (DO)
Synonyms:exact_synonym: CA - skin cancer;   cancer of skin;   cancer of the skin;   malignant neoplasm of skin;   melanoma and non-melanoma skin cancer;   skin cancers
 xref: EFO:0004198;   GARD:10421;   MONDO:0002898;   NCI:C2920
For additional species annotation, visit the Alliance of Genome Resources.



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skin cancer term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANXA7 annexin A7 ISO protein:decreased expression:skin RGD PMID:17708571 RGD:2292654 NCBI chr 4:23,933,959...23,961,968
Ensembl chr 4:23,934,234...23,961,880
JBrowse link
G CHUK component of inhibitor of nuclear factor kappa B kinase complex ISO RGD PMID:21755017 RGD:13504775 NCBI chr28:12,964,670...13,001,557
Ensembl chr28:12,965,479...13,001,512
JBrowse link
G CRKL CRK like proto-oncogene, adaptor protein ISO RGD PMID:16391854 RGD:7488899 NCBI chr26:30,542,276...30,582,479
Ensembl chr26:30,545,311...30,581,964
JBrowse link
G PML PML nuclear body scaffold severity ISO human gene in a mouse model RGD PMID:19058256 RGD:41404688 NCBI chr30:37,232,337...37,278,434
Ensembl chr30:37,232,306...37,277,741
JBrowse link
G SNAI1 snail family transcriptional repressor 1 ISO MouseDO NCBI chr24:36,498,343...36,503,623
Ensembl chr24:36,498,062...36,503,628
JBrowse link
G SRSF6 serine and arginine rich splicing factor 6 ISO protein:increased expression:skin (human) RGD PMID:24440982 RGD:11039481 NCBI chr24:31,217,190...31,222,852
Ensembl chr24:31,217,184...31,218,618
JBrowse link
basal cell carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABI3BP ABI family member 3 binding protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr33:7,265,804...7,498,973
Ensembl chr33:7,266,685...7,418,106
JBrowse link
G ACAA2 acetyl-CoA acyltransferase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 7:79,028,636...79,057,720 JBrowse link
G ACADL acyl-CoA dehydrogenase long chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr37:18,028,244...18,073,975
Ensembl chr37:18,017,087...18,073,862
JBrowse link
G ADAM23 ADAM metallopeptidase domain 23 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr37:14,997,150...15,164,341
Ensembl chr37:14,996,854...15,161,008
JBrowse link
G ALCAM activated leukocyte cell adhesion molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr33:10,983,363...11,195,170
Ensembl chr33:10,983,363...11,370,085
JBrowse link
G ALYREF Aly/REF export factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 9:398,207...402,787
Ensembl chr 9:399,072...402,721
JBrowse link
G ARID5B AT-rich interaction domain 5B ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 4:13,926,759...14,105,069
Ensembl chr 4:13,927,217...14,101,364
JBrowse link
G ARPC1B actin related protein 2/3 complex subunit 1B ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 6:10,192,299...10,198,383
Ensembl chr 6:10,178,462...10,198,309
JBrowse link
G ASIP agouti signaling protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:18488027 NCBI chr24:23,338,757...23,393,913
Ensembl chr24:23,354,888...23,393,896
JBrowse link
G ATF2 activating transcription factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr36:19,032,376...19,103,382
Ensembl chr36:19,010,717...19,103,292
JBrowse link
G BAP1 BRCA1 associated deubiquitinase 1 ISO CTD Direct Evidence: marker/mechanism RGD
CTD
PMID:25080371 PMID:26719535 RGD:9586038 NCBI chr20:37,355,499...37,364,298
Ensembl chr20:37,355,494...37,511,125
JBrowse link
G BASP1 brain abundant membrane attached signal protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 4:86,360,641...86,417,408
Ensembl chr 4:86,361,608...86,382,715
JBrowse link
G BNC2 basonuclin zinc finger protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr11:36,511,581...36,950,111
Ensembl chr11:36,514,166...36,950,679
JBrowse link
G C1QA complement C1q A chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 2:76,668,086...76,671,082
Ensembl chr 2:76,668,217...76,670,977
JBrowse link
G C1QTNF1 C1q and TNF related 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 9:2,401,369...2,405,595
Ensembl chr 9:2,402,945...2,404,053
JBrowse link
G CAV1 caveolin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr14:55,458,934...55,494,563
Ensembl chr14:55,461,048...55,492,935
JBrowse link
G CCDC152 coiled-coil domain containing 152 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 4:66,955,016...66,989,208
Ensembl chr 4:66,964,271...66,988,668
JBrowse link
G CCDC56 coiled-coil domain containing 56 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 9:20,223,096...20,224,178
Ensembl chr 9:20,223,096...20,224,178
JBrowse link
G CCNH cyclin H ISO ClinVar Annotator: match by term: BCC1 | ClinVar Annotator: match by term: Basal cell carcinoma, somatic | ClinVar Annotator: match by term: Basal cell carcinoma, susceptibility to, 1 | ClinVar Annotator: match by term: RASA1-related condition ClinVar PMID:8275088 PMID:9219684 PMID:15574420 PMID:18363760 PMID:18446851 More... NCBI chr 3:21,046,477...21,067,305
Ensembl chr 3:21,046,472...21,178,315
JBrowse link
G CHCHD7 coiled-coil-helix-coiled-coil-helix domain containing 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr29:7,609,556...7,615,996
Ensembl chr29:7,610,789...7,614,832
JBrowse link
G CHD3 chromodomain helicase DNA binding protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 5:32,747,341...32,768,114
Ensembl chr 5:32,747,397...32,766,965
JBrowse link
G CHGA chromogranin A ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 8:1,970,966...1,973,511 JBrowse link
G CLPTM1L CLPTM1 like ISO CTD Direct Evidence: marker/mechanism CTD PMID:19151717 NCBI chr34:11,263,274...11,277,666
Ensembl chr34:11,263,162...11,277,436
JBrowse link
G COA7 cytochrome c oxidase assembly factor 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr15:8,706,047...8,718,184
Ensembl chr15:8,706,070...8,717,425
JBrowse link
G CREB5 cAMP responsive element binding protein 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr14:41,397,016...41,891,273
Ensembl chr14:41,488,548...41,885,094
JBrowse link
G CRNKL1 crooked neck pre-mRNA splicing factor 1 ISO DNA:missense mutation:cds:p.S128F (human) RGD PMID:23774526 RGD:9850250 NCBI chr24:3,294,607...3,310,846
Ensembl chr24:3,294,616...3,310,702
JBrowse link
G CSPG4 chondroitin sulfate proteoglycan 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr30:38,465,486...38,498,365
Ensembl chr30:38,465,241...38,497,971
JBrowse link
G CTCF CCCTC-binding factor ISO DNA:mutations:multiple (human) RGD PMID:27974201 RGD:151356739 NCBI chr 5:81,808,512...81,863,811
Ensembl chr 5:81,809,393...81,858,655
JBrowse link
G CTLA4 cytotoxic T-lymphocyte associated protein 4 susceptibility ISO DNA:SNP: :rs3087243(human) RGD PMID:19622768 RGD:7411686 NCBI chr37:12,647,712...12,653,874
Ensembl chr37:12,634,563...12,653,874
JBrowse link
G DCLRE1A DNA cross-link repair 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr28:24,704,044...24,724,561
Ensembl chr28:24,669,733...24,723,841
JBrowse link
G DCP1B decapping mRNA 1B ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr27:43,987,778...44,041,661
Ensembl chr27:43,844,529...44,041,637
JBrowse link
G DHX15 DEAH-box helicase 15 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 3:85,549,946...85,609,598
Ensembl chr 3:85,549,981...85,609,612
JBrowse link
G DIO2 iodothyronine deiodinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 8:52,686,211...52,695,226
Ensembl chr 8:52,686,211...52,695,226
JBrowse link
G DSC2 desmocollin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 7:58,369,316...58,402,028
Ensembl chr 7:58,322,959...58,457,978
JBrowse link
G DUSP10 dual specificity phosphatase 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr38:16,196,354...16,233,640
Ensembl chr38:16,196,635...16,231,315
JBrowse link
G EDN1 endothelin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr35:11,808,892...11,815,383
Ensembl chr35:11,808,892...11,815,383
JBrowse link
G ELK3 ETS transcription factor ELK3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr15:35,950,513...36,015,315
Ensembl chr15:35,950,685...36,013,081
JBrowse link
G ERBB2 erb-b2 receptor tyrosine kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26950094 NCBI chr 9:22,760,373...22,785,367
Ensembl chr 9:22,759,256...22,785,294
JBrowse link
G FAM234A family with sequence similarity 234 member A ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 6:40,234,853...40,271,453
Ensembl chr 6:40,234,858...40,266,454
JBrowse link
G FARP1 FERM, ARH/RhoGEF and pleckstrin domain protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr22:48,284,961...48,575,007
Ensembl chr22:48,342,521...48,573,836
JBrowse link
G FBN3 fibrillin 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr20:52,723,995...52,777,319
Ensembl chr20:52,724,651...52,776,884
JBrowse link
G FBXW7 F-box and WD repeat domain containing 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26950094 NCBI chr15:50,187,579...50,417,188
Ensembl chr15:50,189,240...50,417,195
JBrowse link
G FMO2 flavin containing dimethylaniline monoxygenase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 7:27,634,624...27,659,111
Ensembl chr 7:27,634,900...27,659,037
JBrowse link
G FNBP1L formin binding protein 1 like ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 6:55,533,270...55,642,622
Ensembl chr 6:55,534,751...55,642,463
JBrowse link
G FSCN1 fascin actin-bundling protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 6:12,360,849...12,370,906
Ensembl chr 6:12,354,599...12,370,808
JBrowse link
G GALNT15 polypeptide N-acetylgalactosaminyltransferase 15 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr23:26,555,160...26,603,549
Ensembl chr23:26,556,863...26,602,960
JBrowse link
G GJB6 gap junction protein beta 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr25:17,912,036...17,922,310
Ensembl chr25:17,911,262...17,921,605
JBrowse link
G GLI2 GLI family zinc finger 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10700170 PMID:36428691 NCBI chr19:29,128,401...29,383,324
Ensembl chr19:29,130,227...29,383,658
JBrowse link
G GPX8 glutathione peroxidase 8 (putative) ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 2:42,532,171...42,537,449
Ensembl chr 2:42,532,339...42,537,304
JBrowse link
G GRM5 glutamate metabotropic receptor 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr21:10,980,186...11,496,539
Ensembl chr21:10,996,075...11,493,290
JBrowse link
G GTF2I general transcription factor IIi ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 6:5,726,652...5,840,740
Ensembl chr 6:5,727,665...5,811,965
JBrowse link
G HHIP hedgehog interacting protein treatment ISO mRNA:increased expression:skin: RGD PMID:15024045 RGD:11552592 NCBI chr15:43,432,464...43,525,973
Ensembl chr15:43,431,650...43,520,861
JBrowse link
G IFT88 intraflagellar transport 88 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr25:17,414,965...17,551,405
Ensembl chr25:17,414,965...17,551,266
JBrowse link
G IGF2BP1 insulin like growth factor 2 mRNA binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 9:25,199,287...25,240,693
Ensembl chr 9:25,198,805...25,240,578
JBrowse link
G IGF2BP2 insulin like growth factor 2 mRNA binding protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr34:18,368,509...18,522,233
Ensembl chr34:18,369,684...18,522,157
JBrowse link
G IL6 interleukin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22108589 NCBI chr14:36,474,268...36,478,519
Ensembl chr14:36,473,394...36,478,519
JBrowse link
G INPP4A inositol polyphosphate-4-phosphatase type I A ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr10:44,086,533...44,221,225
Ensembl chr10:44,089,025...44,145,506
JBrowse link
G IRS4 insulin receptor substrate 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr  X:82,275,642...82,292,398
Ensembl chr  X:82,276,187...82,292,375
JBrowse link
G IRX1 iroquois homeobox 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr34:9,537,231...9,544,029
Ensembl chr34:9,538,479...9,544,029
JBrowse link
G JUN Jun proto-oncogene, AP-1 transcription factor subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 5:50,966,698...50,968,939 JBrowse link
G KRT17 keratin 17 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20871598 PMID:36428691 NCBI chr 9:21,155,007...21,161,407
Ensembl chr 9:21,156,045...21,265,564
JBrowse link
G KRT81 keratin 81 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19578363 PMID:20871598 NCBI chr27:2,776,693...2,782,016 JBrowse link
G LATS1 large tumor suppressor kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26950094 NCBI chr 1:40,430,096...40,475,193
Ensembl chr 1:40,260,064...40,457,609
JBrowse link
G LEF1 lymphoid enhancer binding factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr32:28,516,002...28,633,759
Ensembl chr32:28,517,108...28,634,019
JBrowse link
G LGR5 leucine rich repeat containing G protein-coupled receptor 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr10:13,009,028...13,136,685
Ensembl chr10:13,007,843...13,136,998
JBrowse link
G LITAF lipopolysaccharide induced TNF factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 6:31,229,153...31,259,670 JBrowse link
G LMAN1 lectin, mannose binding 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 1:16,869,106...16,897,911
Ensembl chr 1:16,869,121...16,894,786
JBrowse link
G LOC100688796 ATP synthase F(0) complex subunit B1, mitochondrial ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr17:63,940,486...63,954,982
Ensembl chr 6:40,613,415...40,625,979
Ensembl chr 6:40,613,415...40,625,979
JBrowse link
G LOC119866031 small nucleolar RNA SNORA75 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691
G LOC488436 serine/threonine-protein kinase 19-like ISO CTD Direct Evidence: marker/mechanism CTD PMID:26950094 NCBI chr36:27,227,496...27,228,457 JBrowse link
G LOC610636 tubulin alpha-1B chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr37:25,811,491...25,818,838 JBrowse link
G LPL lipoprotein lipase ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr25:37,078,306...37,102,729
Ensembl chr25:37,079,756...37,102,700
JBrowse link
G LRIG3 leucine rich repeats and immunoglobulin like domains 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr10:2,723,836...2,772,630
Ensembl chr10:2,724,951...2,772,636
JBrowse link
G LRRCC1 leucine rich repeat and coiled-coil centrosomal protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr29:31,677,938...31,716,282
Ensembl chr29:31,678,261...31,715,611
JBrowse link
G LTBP1 latent transforming growth factor beta binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr17:26,129,528...26,521,782
Ensembl chr17:26,130,781...26,521,779
JBrowse link
G MARCKSL1 MARCKS like 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 2:68,898,750...68,901,139
Ensembl chr 2:68,892,492...68,901,031
JBrowse link
G MC1R melanocortin 1 receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539553 NCBI chr 5:63,694,296...63,695,249 JBrowse link
G MEX3A mex-3 RNA binding family member A ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 7:41,742,777...41,749,730
Ensembl chr 7:41,742,785...41,747,628
JBrowse link
G MGAT5 alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr19:37,041,215...37,334,585
Ensembl chr19:37,087,247...37,329,723
JBrowse link
G MMP11 matrix metallopeptidase 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr26:28,730,173...28,741,506
Ensembl chr26:28,727,332...28,741,415
JBrowse link
G MPPED1 metallophosphoesterase domain containing 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr10:22,075,534...22,155,974
Ensembl chr10:22,077,813...22,155,867
JBrowse link
G MYCN MYCN proto-oncogene, bHLH transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:26950094 NCBI chr17:11,720,857...11,724,308 JBrowse link
G MYH9 myosin heavy chain 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr10:28,063,626...28,122,953
Ensembl chr10:28,063,624...28,122,953
JBrowse link
G NNMT nicotinamide N-methyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 5:19,026,514...19,044,154
Ensembl chr 5:19,026,556...19,044,016
JBrowse link
G NUDCD1 NudC domain containing 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr13:9,815,394...9,895,410
Ensembl chr13:9,815,957...9,895,359
JBrowse link
G NXN nucleoredoxin ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 9:44,847,468...45,003,129
Ensembl chr 9:44,847,558...44,998,906
JBrowse link
G OCA2 OCA2 melanosomal transmembrane protein susceptibility ISO DNA:snps:intron:IVS1+132A>G (rs7495174), IVS1+8550A>G (rs11855019), IVS1+15605G>A (rs7174027) (human)
DNA:missense mutation:cds:p.R419Q (rs1800407) (human)
RGD PMID:19384953 PMID:21270109 RGD:9491840 RGD:9491841 NCBI chr 3:32,361,825...32,713,631
Ensembl chr 3:32,361,517...32,713,572
JBrowse link
G OGG1 8-oxoguanine DNA glycosylase no_association ISO DNA:missense mutation: :p.S326C (rs1052133)(human) RGD PMID:15466987 PMID:22436579 RGD:8657137 RGD:8657158 NCBI chr20:8,486,150...8,491,448
Ensembl chr20:8,480,005...8,491,264
JBrowse link
G OSCP1 organic solute carrier partner 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr15:5,857,122...5,876,457
Ensembl chr15:5,852,139...5,876,450
JBrowse link
G PALB2 partner and localizer of BRCA2 ISO ClinVar Annotator: match by term: Basal cell carcinoma ClinVar PMID:17200668 PMID:17200671 PMID:17200672 PMID:24136930 PMID:25099575 More... NCBI chr 6:22,209,711...22,237,798
Ensembl chr 6:22,209,384...22,237,745
JBrowse link
G PALM paralemmin ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr20:57,847,631...57,868,790
Ensembl chr20:57,849,081...57,868,975
JBrowse link
G PELI2 pellino E3 ubiquitin protein ligase family member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 8:31,834,287...32,013,387
Ensembl chr 8:31,833,909...32,012,092
JBrowse link
G PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:26950094 NCBI chr34:12,600,140...12,681,905
Ensembl chr34:12,600,233...12,675,910
JBrowse link
G PLAG1 PLAG1 zinc finger ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr29:7,563,804...7,608,819
Ensembl chr29:7,564,596...7,608,902
JBrowse link
G PNMA1 PNMA family member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 8:46,971,661...46,973,776
Ensembl chr 8:46,972,472...46,973,533
JBrowse link
G PPP6C protein phosphatase 6 catalytic subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:26950094 NCBI chr 9:57,884,035...57,921,080
Ensembl chr 5:43,094,942...43,095,395
Ensembl chr 9:43,094,942...43,095,395
JBrowse link
G PROCR protein C receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr24:24,184,063...24,188,452
Ensembl chr24:24,184,370...24,187,910
JBrowse link
G PTCH1 patched 1 disease_progression ISO mRNA:increased expression:skin of body
ClinVar Annotator: match by term: BCC1 | ClinVar Annotator: match by term: Basal cell carcinoma | ClinVar Annotator: match by term: Basal cell carcinoma, somatic | ClinVar Annotator: match by term: Basal cell carcinoma, susceptibility to, 1 | ClinVar Annotator: match by term: Basal cell carcinoma, susceptibility to, 7
RGD
ClinVar
OMIM
PMID:8782823 PMID:8840969 PMID:9620294 PMID:10504535 PMID:11231326 More... RGD:12801453 NCBI chr 1:71,246,750...71,309,036
Ensembl chr 1:71,238,195...71,305,662
JBrowse link
G PTCH2 patched 2 ISO ClinVar Annotator: match by term: BCC1 | ClinVar Annotator: match by term: Basal cell carcinoma, somatic | ClinVar Annotator: match by term: Basal cell carcinoma, susceptibility to, 1 | ClinVar Annotator: match by term: PTCH2-related condition OMIM
ClinVar
PMID:9536098 PMID:9931336 PMID:17576681 PMID:25741868 PMID:28492532 More... NCBI chr15:15,488,357...15,503,748
Ensembl chr15:15,487,639...15,503,234
JBrowse link
G PTPN14 protein tyrosine phosphatase non-receptor type 14 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26950094 NCBI chr 7:12,335,327...12,454,992
Ensembl chr 7:12,342,277...12,486,204
JBrowse link
G PYCR2 pyrroline-5-carboxylate reductase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 7:38,902,705...38,905,924 JBrowse link
G RAB28 RAB28, member RAS oncogene family ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 3:66,601,543...66,738,055
Ensembl chr29:7,185,678...7,187,043
JBrowse link
G RAC3 Rac family small GTPase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 9:293,260...295,990 JBrowse link
G RASA1 RAS p21 protein activator 1 ISO ClinVar Annotator: match by term: BCC1 | ClinVar Annotator: match by term: Basal cell carcinoma, somatic | ClinVar Annotator: match by term: Basal cell carcinoma, susceptibility to, 1 | ClinVar Annotator: match by term: RASA1-related condition OMIM
ClinVar
PMID:8275088 PMID:9219684 PMID:15574420 PMID:18363760 PMID:18446851 More... NCBI chr 3:21,068,182...21,177,288
Ensembl chr 3:21,054,930...21,176,757
JBrowse link
G RB1 RB transcriptional corepressor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26950094 NCBI chr22:3,061,621...3,204,625
Ensembl chr22:3,063,239...3,257,726
JBrowse link
G RBP1 retinol binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr23:35,677,844...35,698,194
Ensembl chr23:35,679,176...35,698,363
JBrowse link
G RGCC regulator of cell cycle ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr22:9,199,204...9,209,297 JBrowse link
G ROCK1 Rho associated coiled-coil containing protein kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 7:66,862,614...67,001,538
Ensembl chr 7:66,862,608...67,142,853
JBrowse link
G RPE65 retinoid isomerohydrolase RPE65 ISO mRNA:increased expression:skin (human) RGD PMID:16181461 RGD:9495923 NCBI chr 6:76,887,399...76,911,133
Ensembl chr 6:76,887,399...76,911,131
JBrowse link
G RUNX1T1 RUNX1 partner transcriptional co-repressor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr29:37,156,861...37,289,934
Ensembl chr29:37,158,659...37,297,879
JBrowse link
G SCAMP5 secretory carrier membrane protein 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr30:38,007,967...38,029,541
Ensembl chr30:38,008,035...38,030,881
JBrowse link
G SETBP1 SET binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 7:46,020,892...46,378,867
Ensembl chr 7:46,020,889...46,378,005
JBrowse link
G SH3BP4 SH3 domain binding protein 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr25:46,049,631...46,133,065
Ensembl chr25:46,049,475...46,155,519
JBrowse link
G SHH sonic hedgehog signaling molecule ISO DNA, protein:hypermethylation, decreased expression:skin of body RGD PMID:23284750 RGD:12801452 NCBI chr16:18,650,553...18,663,571
Ensembl chr16:18,484,809...18,662,903
JBrowse link
G SHOX2 SHOX homeobox 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr23:51,484,696...51,492,586
Ensembl chr23:51,484,421...51,492,566
JBrowse link
G SLC45A2 solute carrier family 45 member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19578363 NCBI chr 4:73,838,684...73,868,222
Ensembl chr 4:73,815,291...73,867,437
JBrowse link
G SLC7A2 solute carrier family 7 member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr16:40,855,270...40,879,956
Ensembl chr16:40,745,458...40,875,106
JBrowse link
G SLCO2A1 solute carrier organic anion transporter family member 2A1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr23:30,797,956...30,877,340
Ensembl chr23:30,797,890...30,877,340
JBrowse link
G SMO smoothened, frizzled class receptor disease_progression ISO mRNA:increased expression:skin of body
ClinVar Annotator: match by term: BCC1 | ClinVar Annotator: match by term: Basal cell carcinoma, somatic
RGD
ClinVar
OMIM
PMID:9422511 PMID:10504535 PMID:25741868 PMID:28492532 RGD:12801453 NCBI chr14:7,518,871...7,527,703
Ensembl chr14:7,518,856...7,528,033
JBrowse link
G SOBP sine oculis binding protein homolog ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr12:64,653,814...64,794,144
Ensembl chr12:64,664,288...64,794,358
JBrowse link
G SOX18 SRY-box transcription factor 18 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr24:47,494,581...47,496,563
Ensembl chr24:47,494,902...47,496,970
JBrowse link
G SOX4 SRY-box transcription factor 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr35:20,098,783...20,101,357
Ensembl chr35:20,099,773...20,101,154
JBrowse link
G SPON2 spondin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 3:91,411,245...91,421,245 JBrowse link
G SRGAP1 SLIT-ROBO Rho GTPase activating protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr10:6,677,409...6,947,495
Ensembl chr10:6,677,403...6,944,677
JBrowse link
G SSR3 signal sequence receptor subunit 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr23:50,136,591...50,150,424
Ensembl chr23:50,138,909...50,150,415
JBrowse link
G STMN1 stathmin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 2:74,035,462...74,043,352
Ensembl chr 2:74,035,457...74,043,349
JBrowse link
G SUFU SUFU negative regulator of hedgehog signaling ISO CTD Direct Evidence: marker/mechanism CTD PMID:26950094 NCBI chr28:14,992,989...15,115,499
Ensembl chr28:14,992,618...15,112,389
JBrowse link
G SYNJ1 synaptojanin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr31:27,308,169...27,399,226
Ensembl chr31:27,308,169...27,399,197
JBrowse link
G TBX1 T-box transcription factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr26:29,529,071...29,533,240
Ensembl chr26:29,528,878...29,532,784
JBrowse link
G TERT telomerase reverse transcriptase ISO CTD Direct Evidence: marker/mechanism CTD PMID:19151717 NCBI chr34:11,288,622...11,307,790
Ensembl chr34:11,288,622...11,307,951
JBrowse link
G TGFB2 transforming growth factor beta 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr38:13,430,832...13,511,655
Ensembl chr38:13,429,148...13,510,242
JBrowse link
G TGS1 trimethylguanosine synthase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr29:7,241,050...7,281,811
Ensembl chr29:7,241,237...7,280,500
JBrowse link
G TM4SF1 transmembrane 4 L six family member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr23:44,149,265...44,160,699
Ensembl chr23:44,151,971...44,155,172
JBrowse link
G TMCO3 transmembrane and coiled-coil domains 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr22:60,785,287...60,832,940
Ensembl chr22:60,786,583...60,904,895
JBrowse link
G TMEM104 transmembrane protein 104 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 9:5,598,159...5,654,150
Ensembl chr 9:5,600,373...5,654,520
JBrowse link
G TMEM170A transmembrane protein 170A ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 5:75,287,997...75,307,064
Ensembl chr 5:75,288,139...75,303,755
JBrowse link
G TMEM176B transmembrane protein 176B ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr16:14,918,491...14,926,673
Ensembl chr16:14,919,126...14,926,583
JBrowse link
G TMEM19 transmembrane protein 19 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr10:13,232,822...13,251,847 JBrowse link
G TMEM217 transmembrane protein 217 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr12:6,241,837...6,292,104 JBrowse link
G TP53 tumor protein p53 ISO ClinVar Annotator: match by term: Basal cell carcinoma, susceptibility to, 1 | ClinVar Annotator: match by term: Basal cell carcinoma, susceptibility to, 7 ClinVar
OMIM
PMID:1565143 PMID:1565144 PMID:1591732 PMID:1631137 PMID:1683921 More... NCBI chr 5:32,561,406...32,565,149
Ensembl chr 5:32,560,598...32,574,109
JBrowse link
G TRIL TLR4 interactor with leucine rich repeats ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr14:41,999,558...42,004,418
Ensembl chr14:42,001,920...42,004,397
JBrowse link
G TYR tyrosinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:18488027 NCBI chr21:10,799,940...10,894,187
Ensembl chr21:10,799,940...10,894,191
JBrowse link
G UBAC2 UBA domain containing 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr22:49,246,210...49,425,611
Ensembl chr22:49,245,930...49,425,088
JBrowse link
G UST uronyl 2-sulfotransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 1:39,633,276...39,922,361
Ensembl chr 1:39,633,501...39,921,289
JBrowse link
G VASH2 vasohibin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 7:11,073,156...11,111,813
Ensembl chr 7:11,072,215...11,111,166
JBrowse link
G VCAN versican ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 3:24,127,293...24,238,859
Ensembl chr 3:24,119,181...24,239,192
JBrowse link
G VDR vitamin D receptor ISO mRNA:increased expression:skin
DNA:SNPs, haplotype: :rs731236, rs7975232 (human)
RGD PMID:15077124 PMID:22213323 RGD:8158063 RGD:8158076 NCBI chr27:6,852,915...6,909,466
Ensembl chr27:6,852,723...6,909,470
JBrowse link
G VPS37D VPS37D subunit of ESCRT-I ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 6:6,602,905...6,606,781
Ensembl chr 6:6,603,627...6,607,029
JBrowse link
G XPA XPA, DNA damage recognition and repair factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:17687452 NCBI chr11:54,976,978...54,996,140
Ensembl chr11:54,976,976...54,996,065
JBrowse link
G XRCC3 X-ray repair cross complementing 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16501254 NCBI chr 8:71,441,732...71,452,922
Ensembl chr 8:71,442,429...71,449,408
JBrowse link
G XRCC5 X-ray repair cross complementing 5 ISO protein:increased expression:epidermal cell, basal cell of epidermis (human) RGD PMID:16497868 RGD:8698657 NCBI chr37:23,095,769...23,185,680
Ensembl chr37:23,095,754...23,185,586
JBrowse link
G XRCC6 X-ray repair cross complementing 6 ISO protein:increased expression:epidermal cell, basal cell of epidermis (human) RGD PMID:16497868 RGD:8698657 NCBI chr10:23,637,905...23,661,618
Ensembl chr10:23,638,237...23,661,480
JBrowse link
basaloid squamous cell carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PTCH1 patched 1 ISO DNA:missense mutations, nonsense mutations RGD PMID:25395299 RGD:150523793 NCBI chr 1:71,246,750...71,309,036
Ensembl chr 1:71,238,195...71,305,662
JBrowse link
cutaneous Paget's disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha severity ISO DNA:mutations:multiple: RGD PMID:22522847 RGD:14402410 NCBI chr34:12,600,140...12,681,905
Ensembl chr34:12,600,233...12,675,910
JBrowse link
eccrine porocarcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KMT2D lysine methyltransferase 2D ISO ClinVar Annotator: match by term: Eccrine porocarcinoma ClinVar PMID:28492532 NCBI chr27:5,516,866...5,556,303
Ensembl chr27:5,521,804...5,553,490
JBrowse link
G MRE11 MRE11 homolog, double strand break repair nuclease ISO ClinVar Annotator: match by term: Eccrine porocarcinoma ClinVar NCBI chr21:6,448,909...6,528,185
Ensembl chr21:6,449,822...6,527,119
JBrowse link
G TBX3 T-box transcription factor 3 ISO ClinVar Annotator: match by term: Eccrine porocarcinoma ClinVar NCBI chr26:11,694,885...11,709,594
Ensembl chr26:11,696,565...11,708,918
JBrowse link
familial melanoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AGAP2 ArfGAP with GTPase domain, ankyrin repeat and PH domain 2 ISO ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:28492532 NCBI chr10:1,791,273...1,807,710
Ensembl chr10:1,792,733...1,807,610
JBrowse link
G ARHGAP9 Rho GTPase activating protein 9 ISO ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:28492532 NCBI chr10:1,576,114...1,583,611 JBrowse link
G ARHGEF25 Rho guanine nucleotide exchange factor 25 ISO ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:28492532 NCBI chr10:1,687,519...1,694,487
Ensembl chr10:1,687,513...1,695,238
JBrowse link
G B4GALNT1 beta-1,4-N-acetyl-galactosaminyltransferase 1 ISO ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:28492532 NCBI chr10:1,703,846...1,756,837
Ensembl chr10:1,703,169...1,709,994
JBrowse link
G BAP1 BRCA1 associated deubiquitinase 1 ISO ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:21874000 PMID:23684012 PMID:25741868 PMID:28492532 NCBI chr20:37,355,499...37,364,298
Ensembl chr20:37,355,494...37,511,125
JBrowse link
G BRAF B-Raf proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 1
ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 1 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10
ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 1 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10
ClinVar
OMIM
PMID:2500657 PMID:16439621 PMID:16474404 PMID:17366577 PMID:17551924 More... NCBI chr16:8,222,909...8,318,179
Ensembl chr16:8,222,907...8,317,906
JBrowse link
G CDK4 cyclin dependent kinase 4 ISO ClinVar Annotator: match by term: Cutaneous Malignant Melanoma, Dominant | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: MELANOMA AND RENAL CELL CARCINOMA, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 1 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5
ClinVar Annotator: match by term: Cutaneous Malignant Melanoma, Dominant | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: MELANOMA AND RENAL CELL CARCINOMA, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3
ClinVar Annotator: match by term: Cutaneous Malignant Melanoma, Dominant | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Hereditary cutaneous melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5
ClinVar Annotator: match by term: Cutaneous Malignant Melanoma, Dominant | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 2 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3
ClinVar Annotator: match by term: Cutaneous Malignant Melanoma, Dominant | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3
ClinVar Annotator: match by term: Cutaneous Malignant Melanoma, Dominant | ClinVar Annotator: match by term: Cutaneous malignant melanoma 5 | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5
ClinVar Annotator: match by term: Cutaneous Malignant Melanoma, Dominant | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 2 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5
ClinVar Annotator: match by term: Cutaneous Malignant Melanoma, Dominant | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5
OMIM
ClinVar
PMID:5377176 PMID:7652577 PMID:8528263 PMID:8968104 PMID:9228064 More... NCBI chr10:1,812,864...1,815,815
Ensembl chr10:1,812,886...1,815,789
JBrowse link
G CDKN2A cyclin dependent kinase inhibitor 2A ISO ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: MELANOMA AND RENAL CELL CARCINOMA, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 1 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 2 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5
ClinVar Annotator: match by term: Cutaneous malignant melanoma 6 | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Hereditary cutaneous melanoma | ClinVar Annotator: match by term: MELANOMA AND RENAL CELL CARCINOMA, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 2 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3
ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Hereditary cutaneous melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 1 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 2
ClinVar Annotator: match by term: Cutaneous malignant melanoma 9 | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Hereditary cutaneous melanoma | ClinVar Annotator: match by term: MELANOMA AND RENAL CELL CARCINOMA, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 1 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 2 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 9
ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Hereditary cutaneous melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 2 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5
ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Hereditary cutaneous melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 1 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 2 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5
ClinVar Annotator: match by term: Cutaneous Malignant Melanoma, Dominant | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Hereditary cutaneous melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 2
ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Hereditary cutaneous melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 2 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5
ClinVar Annotator: match by term: Cutaneous malignant melanoma 5 | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Hereditary cutaneous melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 2 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5
ClinVar Annotator: match by term: Cutaneous Malignant Melanoma, Dominant | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Hereditary cutaneous melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 2 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5
OMIM
ClinVar
PMID:539244 PMID:649266 PMID:865368 PMID:1038976 PMID:2319082 More... NCBI chr11:41,223,316...41,226,056
Ensembl chr11:41,223,315...41,264,379
JBrowse link
G CDKN2B cyclin dependent kinase inhibitor 2B ISO ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:9622062 PMID:28492532 NCBI chr11:41,259,627...41,264,832 JBrowse link
G CYP27B1 cytochrome P450 family 27 subfamily B member 1 ISO ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:28492532 NCBI chr10:1,825,224...1,830,845
Ensembl chr10:1,826,046...1,829,911
JBrowse link
G DCTN2 dynactin subunit 2 ISO ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:28492532 NCBI chr10:1,620,702...1,634,385
Ensembl chr10:1,620,724...1,634,309
JBrowse link
G DDIT3 DNA damage inducible transcript 3 ISO ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:28492532 NCBI chr10:1,606,693...1,612,410
Ensembl chr10:1,606,693...1,611,303
JBrowse link
G DNAH1 dynein axonemal heavy chain 1 ISO ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:21874000 PMID:23684012 PMID:25741868 PMID:28492532 NCBI chr20:37,364,836...37,441,486
Ensembl chr20:37,364,842...37,465,807
JBrowse link
G DTX3 deltex E3 ubiquitin ligase 3 ISO ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:28492532 NCBI chr10:1,684,394...1,687,244
Ensembl chr10:1,683,410...1,686,814
JBrowse link
G EEF1AKMT3 EEF1A lysine methyltransferase 3 ISO ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:28492532 NCBI chr10:1,833,759...1,842,646 JBrowse link
G FANCA FA complementation group A ISO ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 ClinVar PMID:28492532 NCBI chr 5:63,778,149...63,838,869
Ensembl chr 5:63,778,212...63,838,823
JBrowse link
G GLI1 GLI family zinc finger 1 ISO ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:28492532 NCBI chr10:1,565,306...1,575,971
Ensembl chr10:1,565,244...1,575,982
JBrowse link
G INHBC inhibin subunit beta C ISO ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:28492532 NCBI chr10:1,546,654...1,558,631
Ensembl chr10:1,547,075...1,558,645
JBrowse link
G INHBE inhibin subunit beta E ISO ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:28492532 NCBI chr10:1,558,876...1,563,370
Ensembl chr10:1,559,770...1,562,885
JBrowse link
G KIF5A kinesin family member 5A ISO ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:28492532 NCBI chr10:1,637,007...1,666,790
Ensembl chr10:1,636,932...1,664,767
JBrowse link
G KLC1 kinesin light chain 1 ISO ClinVar Annotator: match by term: Cutaneous malignant melanoma 6 ClinVar PMID:11059748 PMID:28492532 NCBI chr 8:71,401,795...71,444,056
Ensembl chr 8:71,400,003...71,444,062
JBrowse link
G LOC607393 neurexophilin-4 ISO ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:28492532 NCBI chr10:1,348,634...1,353,930
Ensembl chr10:1,352,470...1,353,321
JBrowse link
G LRP1 LDL receptor related protein 1 ISO ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:28492532 NCBI chr10:1,260,256...1,341,705
Ensembl chr10:1,260,719...1,352,271
JBrowse link
G MARCHF9 membrane associated ring-CH-type finger 9 ISO ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:28492532 NCBI chr10:1,819,133...1,823,314
Ensembl chr10:1,819,258...1,821,995
JBrowse link
G MARS1 methionyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:28492532 NCBI chr10:1,588,503...1,606,752
Ensembl chr10:1,588,875...1,606,750
JBrowse link
G MBD6 methyl-CpG binding domain protein 6 ISO ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:28492532 NCBI chr10:1,611,462...1,620,546
Ensembl chr10:1,613,643...1,619,745
JBrowse link
G MC1R melanocortin 1 receptor ISO ClinVar Annotator: match by term: Cutaneous malignant melanoma 5 | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 8
ClinVar Annotator: match by term: Cutaneous malignant melanoma 5 | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 2 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5
ClinVar Annotator: match by term: Cutaneous malignant melanoma 5 | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5
OMIM
ClinVar
PMID:7581459 PMID:8605020 PMID:8894704 PMID:8944016 PMID:8990005 More... NCBI chr 5:63,694,296...63,695,249 JBrowse link
G METTL1 methyltransferase 1, tRNA methylguanosine ISO ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:28492532 NCBI chr10:1,831,088...1,833,818
Ensembl chr10:1,831,091...1,833,868
JBrowse link
G MITF melanocyte inducing transcription factor ISO ClinVar Annotator: match by term: MELANOMA AND RENAL CELL CARCINOMA, SUSCEPTIBILITY TO
ClinVar Annotator: match by term: MELANOMA AND RENAL CELL CARCINOMA, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 8
ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: MELANOMA AND RENAL CELL CARCINOMA, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 8
ClinVar
OMIM
PMID:2440678 PMID:8589691 PMID:8659547 PMID:9536098 PMID:10587587 More... NCBI chr20:21,772,147...21,873,545
Ensembl chr20:21,612,927...21,870,578
JBrowse link
G NDUFA4L2 NDUFA4 mitochondrial complex associated like 2 ISO ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:28492532 NCBI chr10:1,362,479...1,365,203
Ensembl chr10:1,362,577...1,364,515
JBrowse link
G OS9 OS9 endoplasmic reticulum lectin ISO ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:28492532 NCBI chr10:1,757,070...1,787,822
Ensembl chr10:1,757,103...1,787,203
JBrowse link
G PIP4K2C phosphatidylinositol-5-phosphate 4-kinase type 2 gamma ISO ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:28492532 NCBI chr10:1,670,076...1,680,975
Ensembl chr10:1,672,380...1,680,840
JBrowse link
G POT1 protection of telomeres 1 ISO ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5
ClinVar Annotator: match by term: Cutaneous malignant melanoma 9 | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 1 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5
ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Hereditary cutaneous melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 1 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 8 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 9
ClinVar Annotator: match by term: Cutaneous malignant melanoma 9 | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: MELANOMA AND RENAL CELL CARCINOMA, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 1 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 2 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 8
ClinVar Annotator: match by term: Cutaneous malignant melanoma 5 | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 1 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 2 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 8
ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Hereditary cutaneous melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 1 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5
ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 1 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5
ClinVar Annotator: match by term: Cutaneous Malignant Melanoma, Dominant | ClinVar Annotator: match by term: Cutaneous malignant melanoma 5 | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5
ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 2 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 8
ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5
ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 2 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 6
ClinVar Annotator: match by term: Cutaneous malignant melanoma 5 | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5
ClinVar
OMIM
PMID:9536098 PMID:16199547 PMID:17576681 PMID:19461895 PMID:19763152 More... NCBI chr14:10,987,385...11,067,473
Ensembl chr14:10,987,494...11,066,956
JBrowse link
G PTEN phosphatase and tensin homolog ISO ClinVar Annotator: match by term: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 1 ClinVar PMID:24033266 PMID:24055113 PMID:25741868 PMID:25980754 PMID:28492532 More... NCBI chr26:37,853,148...37,913,176
Ensembl chr26:37,835,661...37,913,176
JBrowse link
G R3HDM2 R3H domain containing 2 ISO ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:28492532 NCBI chr10:1,377,664...1,504,008
Ensembl chr10:1,370,350...1,504,017
JBrowse link
G SHMT2 serine hydroxymethyltransferase 2 ISO ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 ClinVar PMID:28492532 NCBI chr10:1,357,347...1,362,511
Ensembl chr10:1,356,706...1,362,305
JBrowse link
G SPIRE2 spire type actin nucleation factor 2 ISO ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 ClinVar PMID:28492532 NCBI chr 5:63,732,855...63,765,162
Ensembl chr 5:63,732,842...63,753,419
JBrowse link
G STAC3 SH3 and cysteine rich domain 3 ISO ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:28492532 NCBI chr10:1,370,340...1,377,769 JBrowse link
G STK11 serine/threonine kinase 11 ISO ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 1 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10
ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 1 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3
ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 1 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3
ClinVar
OMIM
PMID:9536098 PMID:9887330 PMID:10201537 PMID:10208439 PMID:10676634 More... NCBI chr20:57,558,966...57,579,163
Ensembl chr20:57,559,424...57,579,118
JBrowse link
G TCF25 transcription factor 25 ISO ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 ClinVar PMID:28492532 NCBI chr 5:63,697,627...63,729,780
Ensembl chr 5:63,681,752...63,729,684
JBrowse link
G TERT telomerase reverse transcriptase ISO ClinVar Annotator: match by term: Cutaneous malignant melanoma 9 | ClinVar Annotator: match by term: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 9 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 1 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 9
ClinVar Annotator: match by term: Cutaneous malignant melanoma 9 | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 9 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 1 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 9
OMIM
ClinVar
PMID:15814878 PMID:19561322 PMID:20301779 PMID:20871597 PMID:21436073 More... NCBI chr34:11,288,622...11,307,790
Ensembl chr34:11,288,622...11,307,951
JBrowse link
G TP53 tumor protein p53 ISO ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5
ClinVar Annotator: match by term: Familial melanoma
ClinVar PMID:12826609 PMID:25741868 PMID:28492532 PMID:29979965 PMID:30224644 NCBI chr 5:32,561,406...32,565,149
Ensembl chr 5:32,560,598...32,574,109
JBrowse link
G TSPAN31 tetraspanin 31 ISO ClinVar Annotator: match by term: Cutaneous Malignant Melanoma, Dominant | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5
ClinVar Annotator: match by term: Cutaneous Malignant Melanoma, Dominant | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3
ClinVar Annotator: match by term: Cutaneous Malignant Melanoma, Dominant | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5
ClinVar PMID:9536098 PMID:17576681 PMID:20668451 PMID:21520333 PMID:23718828 More... NCBI chr10:1,810,047...1,812,702
Ensembl chr10:1,810,159...1,812,692
JBrowse link
G TYR tyrosinase ISO ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10
ClinVar Annotator: match by term: MELANOMA AND RENAL CELL CARCINOMA, SUSCEPTIBILITY TO
ClinVar PMID:666627 PMID:1429711 PMID:1820207 PMID:7704033 PMID:9158138 More... NCBI chr21:10,799,940...10,894,187
Ensembl chr21:10,799,940...10,894,191
JBrowse link
G XRCC3 X-ray repair cross complementing 3 ISO ClinVar Annotator: match by term: Cutaneous malignant melanoma 6 ClinVar
OMIM
PMID:11059748 PMID:28492532 NCBI chr 8:71,441,732...71,452,922
Ensembl chr 8:71,442,429...71,449,408
JBrowse link
Ferguson-Smith tumor term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TGFBR1 transforming growth factor beta receptor 1 ISO ClinVar Annotator: match by term: Ferguson-Smith type epithelioma | ClinVar Annotator: match by term: Multiple self-healing squamous epithelioma ClinVar
OMIM
PMID:2511639 PMID:2647812 PMID:5173258 PMID:8499949 PMID:16596670 More... NCBI chr11:56,191,383...56,223,042
Ensembl chr11:56,161,772...56,218,594
JBrowse link
keratoacanthoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NOTCH1 notch receptor 1 ISO ClinVar Annotator: match by term: Keratoacanthoma ClinVar PMID:27283355 NCBI chr 9:48,975,972...49,018,985
Ensembl chr 9:48,974,757...49,017,277
JBrowse link
G NOTCH2 notch receptor 2 ISO ClinVar Annotator: match by term: Keratoacanthoma ClinVar PMID:27283355 NCBI chr17:56,854,825...57,020,157
Ensembl chr17:56,860,429...57,020,857
JBrowse link
G PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha ISO ClinVar Annotator: match by term: Keratoacanthoma ClinVar PMID:22949682 PMID:23246288 PMID:25741868 PMID:27283355 PMID:28151489 More... NCBI chr34:12,600,140...12,681,905
Ensembl chr34:12,600,233...12,675,910
JBrowse link
Merkel cell carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CD68 CD68 molecule ISO protein:increased expression:tumor (human) RGD PMID:22050913 RGD:40925916 NCBI chr 5:32,500,899...32,503,355
Ensembl chr 5:32,501,380...32,503,183
JBrowse link
G FGFR3 fibroblast growth factor receptor 3 ISO mRNA:decreased expression:skin (human) RGD PMID:28359267 RGD:38500206 NCBI chr 3:62,309,128...62,318,932
Ensembl chr 3:62,303,756...62,323,896
JBrowse link
G MYC MYC proto-oncogene, bHLH transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:25277525 NCBI chr13:25,200,772...25,205,309
Ensembl chr13:25,200,577...25,205,309
JBrowse link
G SPA17 sperm autoantigenic protein 17 ISO mRNA,protein:increased expression:nucleus RGD PMID:31218705 RGD:27226803 NCBI chr 5:9,719,222...9,731,521
Ensembl chr 5:9,719,241...9,730,913
JBrowse link
Multiple Basal Cell Carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CCNH cyclin H ISO ClinVar Annotator: match by term: Basal cell carcinoma, multiple ClinVar PMID:24038909 PMID:25741868 PMID:28492532 NCBI chr 3:21,046,477...21,067,305
Ensembl chr 3:21,046,472...21,178,315
JBrowse link
G PTCH1 patched 1 ISO ClinVar Annotator: match by term: Basal cell carcinoma, multiple ClinVar PMID:22703879 PMID:24728327 PMID:25637381 PMID:25741868 PMID:26467025 More... NCBI chr 1:71,246,750...71,309,036
Ensembl chr 1:71,238,195...71,305,662
JBrowse link
G PTCH2 patched 2 ISO ClinVar Annotator: match by term: Basal cell carcinoma, multiple ClinVar PMID:25741868 PMID:28492532 PMID:31945512 NCBI chr15:15,488,357...15,503,748
Ensembl chr15:15,487,639...15,503,234
JBrowse link
G RASA1 RAS p21 protein activator 1 ISO ClinVar Annotator: match by term: Basal cell carcinoma, multiple ClinVar PMID:22200646 PMID:23801933 PMID:24038909 PMID:25741868 PMID:28492532 NCBI chr 3:21,068,182...21,177,288
Ensembl chr 3:21,054,930...21,176,757
JBrowse link
G SMO smoothened, frizzled class receptor ISO ClinVar Annotator: match by term: Basal cell carcinoma, multiple ClinVar PMID:25741868 PMID:28492532 NCBI chr14:7,518,871...7,527,703
Ensembl chr14:7,518,856...7,528,033
JBrowse link
Multiple Self-healing Palmoplantar Carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NLRP1 NLR family pyrin domain containing 1 ISO ClinVar Annotator: match by term: Palmoplantar carcinoma, multiple self-healing ClinVar
OMIM
PMID:16199547 PMID:17377159 PMID:23349227 PMID:24033266 PMID:25050600 More... NCBI chr 5:31,264,554...31,299,538
Ensembl chr 5:31,266,621...31,299,304
JBrowse link
nevoid basal cell carcinoma syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AOPEP aminopeptidase O (putative) ISO ClinVar Annotator: match by term: Gorlin syndrome ClinVar PMID:17703323 PMID:17924555 PMID:22382802 PMID:28492532 NCBI chr 1:71,770,687...72,009,374
Ensembl chr 1:71,677,068...72,009,395
JBrowse link
G ARL3 ADP ribosylation factor like GTPase 3 ISO ClinVar Annotator: match by term: Gorlin syndrome ClinVar PMID:12068298 PMID:22508808 PMID:25403219 PMID:28492532 PMID:31639285 NCBI chr28:15,152,762...15,189,043
Ensembl chr28:15,142,485...15,188,903
JBrowse link
G CYP17A1 cytochrome P450 family 17 subfamily A member 1 ISO ClinVar Annotator: match by term: Gorlin syndrome ClinVar PMID:12068298 PMID:22508808 PMID:25403219 PMID:28492532 PMID:31639285 NCBI chr28:15,292,959...15,298,896
Ensembl chr28:15,293,106...15,298,852
JBrowse link
G FANCC FA complementation group C ISO ClinVar Annotator: match by term: Gorlin syndrome ClinVar PMID:16301862 PMID:16419085 PMID:17703323 PMID:17924555 PMID:22382802 More... NCBI chr 1:71,388,931...71,678,019
Ensembl chr 1:71,487,601...71,678,506
JBrowse link
G GLI1 GLI family zinc finger 1 ISO RGD PMID:15308259 RGD:12801443 NCBI chr10:1,565,306...1,575,971
Ensembl chr10:1,565,244...1,575,982
JBrowse link
G GLI2 GLI family zinc finger 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16936257 NCBI chr19:29,128,401...29,383,324
Ensembl chr19:29,130,227...29,383,658
JBrowse link
G PTCH1 patched 1 ISO ClinVar Annotator: match by term: Basal cell nevus syndrome | ClinVar Annotator: match by term: Fifth Phacomatosis | ClinVar Annotator: match by term: Gorlin syndrome | ClinVar Annotator: match by term: Gorlin-Goltz Syndrome
ClinVar Annotator: match by term: Basal cell nevus syndrome | ClinVar Annotator: match by term: Gorlin syndrome | ClinVar Annotator: match by term: MULTIPLE BASAL CELL NEVI, ODONTOGENIC KERATOCYSTS, AND SKELETAL ANOMALIES
ClinVar PMID:1347096 PMID:1850296 PMID:8302318 PMID:8658145 PMID:8681379 More... NCBI chr 1:71,246,750...71,309,036
Ensembl chr 1:71,238,195...71,305,662
JBrowse link
G PTCH2 patched 2 ISO ClinVar Annotator: match by term: Basal cell nevus syndrome | ClinVar Annotator: match by term: Gorlin syndrome ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:18285427 PMID:23951062 More... NCBI chr15:15,488,357...15,503,748
Ensembl chr15:15,487,639...15,503,234
JBrowse link
G PTH parathyroid hormone ISO CTD Direct Evidence: marker/mechanism CTD PMID:24803734 NCBI chr21:36,417,062...36,419,967
Ensembl chr21:36,417,058...36,419,967
JBrowse link
G SFXN2 sideroflexin 2 ISO ClinVar Annotator: match by term: Gorlin syndrome ClinVar PMID:12068298 PMID:22508808 PMID:25403219 PMID:28492532 PMID:31639285 NCBI chr28:15,189,093...15,213,118
Ensembl chr28:15,154,951...15,212,337
JBrowse link
G SHH sonic hedgehog signaling molecule ISO RGD
MouseDO
PMID:9115210 RGD:12802345 NCBI chr16:18,650,553...18,663,571
Ensembl chr16:18,484,809...18,662,903
JBrowse link
G SMO smoothened, frizzled class receptor ISO RGD PMID:15308259 RGD:12801443 NCBI chr14:7,518,871...7,527,703
Ensembl chr14:7,518,856...7,528,033
JBrowse link
G SUFU SUFU negative regulator of hedgehog signaling ISO ClinVar Annotator: match by term: Fifth Phacomatosis | ClinVar Annotator: match by term: Gorlin syndrome
ClinVar Annotator: match by term: Basal cell nevus syndrome | ClinVar Annotator: match by term: Gorlin syndrome
ClinVar PMID:9536098 PMID:12068298 PMID:16199547 PMID:17102621 PMID:17576681 More... NCBI chr28:14,992,989...15,115,499
Ensembl chr28:14,992,618...15,112,389
JBrowse link
G TRIM8 tripartite motif containing 8 ISO ClinVar Annotator: match by term: Gorlin syndrome ClinVar PMID:12068298 PMID:22508808 PMID:25403219 PMID:28492532 PMID:31639285 NCBI chr28:15,124,310...15,138,660
Ensembl chr28:15,123,348...15,146,355
JBrowse link
G WBP1L WW domain binding protein 1 like ISO ClinVar Annotator: match by term: Gorlin syndrome ClinVar PMID:12068298 PMID:22508808 PMID:25403219 PMID:28492532 PMID:31639285 NCBI chr28:15,218,883...15,285,211
Ensembl chr28:15,218,775...15,282,416
JBrowse link
nevoid basal cell carcinoma syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PTCH1 patched 1 ISO ClinVar Annotator: match by term: Basal cell nevus syndrome 1 OMIM
ClinVar
PMID:8658145 PMID:8681379 PMID:12900905 PMID:16199547 PMID:16301862 More... NCBI chr 1:71,246,750...71,309,036
Ensembl chr 1:71,238,195...71,305,662
JBrowse link
G PTCH2 patched 2 ISO ClinVar Annotator: match by term: Basal cell nevus syndrome 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr15:15,488,357...15,503,748
Ensembl chr15:15,487,639...15,503,234
JBrowse link
nevoid basal cell carcinoma syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SUFU SUFU negative regulator of hedgehog signaling ISO ClinVar Annotator: match by term: Basal cell nevus syndrome 2 | ClinVar Annotator: match by term: NEVOID BASAL CELL CARCINOMA SYNDROME 2 ClinVar
OMIM
PMID:12068298 PMID:19533801 PMID:19833601 PMID:21188540 PMID:22508808 More... NCBI chr28:14,992,989...15,115,499
Ensembl chr28:14,992,618...15,112,389
JBrowse link
skin melanoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AFF4 ALF transcription elongation factor 4 disease_progression ISO RGD PMID:33417923 RGD:155631266 NCBI chr11:21,157,790...21,218,750
Ensembl chr11:21,163,398...21,218,190
JBrowse link
G AGT angiotensinogen ISO protein:increased expression:serum RGD PMID:19394758 RGD:8548874 NCBI chr 4:8,681,192...8,694,059
Ensembl chr 4:8,683,798...8,693,880
JBrowse link
G ARHGAP44 Rho GTPase activating protein 44 severity ISO DNA:SNP:intron: (rs72635537) (human) RGD PMID:28510328 RGD:401901274 NCBI chr 5:36,790,059...36,957,932
Ensembl chr 5:36,789,814...36,957,411
JBrowse link
G BAP1 BRCA1 associated deubiquitinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25231345 PMID:26719535 NCBI chr20:37,355,499...37,364,298
Ensembl chr20:37,355,494...37,511,125
JBrowse link
G BIRC2 baculoviral IAP repeat containing 2 exacerbates ISO mRNA:increased expression:zone of skin (human) RGD PMID:31964418 RGD:153344516 NCBI chr 5:29,294,080...29,314,837
Ensembl chr 5:29,294,692...29,312,771
JBrowse link
G BRAF B-Raf proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: Cutaneous melanoma | ClinVar Annotator: match by term: DYSPLASTIC NEVUS SYNDROME, HEREDITARY | ClinVar Annotator: match by term: Malignant melanoma of skin ClinVar PMID:2493360 PMID:2500657 PMID:12068308 PMID:12198537 PMID:12447372 More... NCBI chr16:8,222,909...8,318,179
Ensembl chr16:8,222,907...8,317,906
JBrowse link
G BRCA2 BRCA2 DNA repair associated disease_progression ISO DNA:SNP: :rs206118, rs3752447, rs10492396 (human) RGD PMID:25243787 RGD:11344896 NCBI chr25:7,734,450...7,797,851
Ensembl chr25:7,734,453...7,797,815
JBrowse link
G CCL2 C-C motif chemokine ligand 2 disease_progression ISO DNA:SNP: :2578A>G (human) RGD PMID:17169533 RGD:9491398 NCBI chr 9:39,008,187...39,009,932 JBrowse link
G CD40 CD40 molecule disease_progression ISO RGD PMID:8952530 RGD:8547772 NCBI chr24:33,352,992...33,383,488
Ensembl chr24:33,372,930...33,383,301
JBrowse link
G CDK4 cyclin dependent kinase 4 ISO ClinVar Annotator: match by term: Cutaneous melanoma | ClinVar Annotator: match by term: Malignant melanoma of skin ClinVar PMID:5377176 PMID:7652577 PMID:8528263 PMID:8968104 PMID:9228064 More... NCBI chr10:1,812,864...1,815,815
Ensembl chr10:1,812,886...1,815,789
JBrowse link
G CDKN2A cyclin dependent kinase inhibitor 2A ISO ClinVar Annotator: match by term: Cutaneous melanoma | ClinVar Annotator: match by term: Malignant melanoma of skin ClinVar PMID:7777060 PMID:7777061 PMID:7780957 PMID:8521414 PMID:8573142 More... NCBI chr11:41,223,316...41,226,056
Ensembl chr11:41,223,315...41,264,379
JBrowse link
G CHAF1B chromatin assembly factor 1 subunit B severity ISO protein:increased expression:skin: RGD PMID:20178651 RGD:9587476 NCBI chr31:31,599,840...31,620,436
Ensembl chr31:31,600,448...31,619,784
JBrowse link
G CNR1 cannabinoid receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28131817 NCBI chr12:47,537,240...47,560,723
Ensembl chr12:47,509,583...47,560,983
JBrowse link
G CREB1 cAMP responsive element binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29179997 NCBI chr37:15,921,214...15,978,492
Ensembl chr37:15,939,138...15,977,556
JBrowse link
G CTCF CCCTC-binding factor ISO DNA:mutations:multiple (human) RGD PMID:27974201 RGD:151356739 NCBI chr 5:81,808,512...81,863,811
Ensembl chr 5:81,809,393...81,858,655
JBrowse link
G CTNNB1 catenin beta 1 ISO ClinVar Annotator: match by term: Cutaneous melanoma ClinVar PMID:10192393 PMID:25741868 PMID:26619011 NCBI chr23:10,559,722...10,572,933
Ensembl chr23:10,559,718...10,572,927
JBrowse link
G DDR1 discoidin domain receptor tyrosine kinase 1 severity
treatment
ISO protein:increased expression:skin lesion (human)
human cells in mouse model; DDR1-IN-1
RGD PMID:31271515 RGD:151347864 NCBI chr12:653,800...671,190
Ensembl chr12:653,807...670,543
JBrowse link
G DNMT3B DNA methyltransferase 3 beta disease_progression ISO RGD PMID:21081840 RGD:9589074 NCBI chr24:22,096,386...22,123,378
Ensembl chr24:22,096,349...22,122,900
JBrowse link
G EML1 EMAP like 1 disease_progression ISO DNA:SNP: :rs10151787 (A>G) RGD PMID:34249459 RGD:597538489 NCBI chr 8:68,139,741...68,295,363
Ensembl chr 8:68,216,857...68,294,080
JBrowse link
G FANCA FA complementation group A disease_progression ISO DNA:SNP: :rs62068372 (human) RGD PMID:25243787 RGD:11344896 NCBI chr 5:63,778,149...63,838,869
Ensembl chr 5:63,778,212...63,838,823
JBrowse link
G FANCD2 FA complementation group D2 ISO mRNA,protein:increased expression:skin,nucleus: RGD PMID:21697891 RGD:11046262 NCBI chr20:8,240,270...8,297,269
Ensembl chr20:8,240,311...8,297,568
JBrowse link
G FBXW7 F-box and WD repeat domain containing 7 ISO ClinVar Annotator: match by term: Cutaneous melanoma | ClinVar Annotator: match by term: Malignant melanoma of skin ClinVar PMID:25741868 PMID:26619011 NCBI chr15:50,187,579...50,417,188
Ensembl chr15:50,189,240...50,417,195
JBrowse link
G GPX1 glutathione peroxidase 1 ISO mRNA:increased expression:skin of body (human) RGD PMID:29535818 RGD:152023655 NCBI chr20:39,889,165...39,890,253
Ensembl chr20:39,889,174...39,890,260
JBrowse link
G GRM1 glutamate metabotropic receptor 1 ISO OMIM:608035 | OMIM:612263 MouseDO NCBI chr 1:37,205,817...37,600,048
Ensembl chr 1:37,206,542...37,598,134
JBrowse link
G HIF1A hypoxia inducible factor 1 subunit alpha ISO protein:increased expression:epidermis (human) RGD PMID:19558170 RGD:8695922 NCBI chr 8:36,614,045...36,656,692
Ensembl chr 8:36,614,045...36,656,692
JBrowse link
G HRAS HRas proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Cutaneous melanoma | ClinVar Annotator: match by term: Malignant melanoma of skin ClinVar PMID:1904555 PMID:3510078 PMID:11150980 PMID:12835555 PMID:16155195 More... NCBI chr18:25,642,844...25,644,717
Ensembl chr18:25,642,844...25,644,717
JBrowse link
G ICAM1 intercellular adhesion molecule 1 disease_progression ISO DNA:missense mutation:exon:p.R241G (human) RGD PMID:16313300 RGD:8547698 NCBI chr20:50,818,715...50,827,914
Ensembl chr20:50,818,715...50,827,914
JBrowse link
G IDH1 isocitrate dehydrogenase (NADP(+)) 1 ISO ClinVar Annotator: match by term: Cutaneous melanoma | ClinVar Annotator: match by term: Malignant melanoma of skin ClinVar PMID:18772396 PMID:19657110 PMID:19798509 PMID:19818334 PMID:20946881 More... NCBI chr37:16,512,027...16,531,269
Ensembl chr37:16,512,770...16,531,219
JBrowse link
G JMJD6 jumonji domain containing 6, arginine demethylase and lysine hydroxylase ISO CTD Direct Evidence: marker/mechanism CTD PMID:30619488 NCBI chr 9:4,037,307...4,076,119
Ensembl chr 9:4,037,439...4,076,123
JBrowse link
G LRRC56 leucine rich repeat containing 56 ISO ClinVar Annotator: match by term: Cutaneous melanoma | ClinVar Annotator: match by term: Malignant melanoma of skin
ClinVar Annotator: match by term: Cutaneous melanoma | ClinVar Annotator: match by term: DYSPLASTIC NEVUS SYNDROME, HEREDITARY | ClinVar Annotator: match by term: Malignant melanoma of skin
ClinVar PMID:1904555 PMID:3510078 PMID:11150980 PMID:12835555 PMID:16155195 More... NCBI chr18:25,647,024...25,662,646
Ensembl chr18:25,647,882...25,664,220
JBrowse link
G MC1R melanocortin 1 receptor ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 5:63,694,296...63,695,249 JBrowse link
G MIR21 microRNA mir-21 disease_progression ISO RNA:increased expression:skin (human) RGD PMID:26150475 RGD:11342032 NCBI chr 9:34,340,550...34,340,609
Ensembl chr 9:34,340,533...34,340,624
JBrowse link
G MITF melanocyte inducing transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:22012259 PMID:22080950 NCBI chr20:21,772,147...21,873,545
Ensembl chr20:21,612,927...21,870,578
JBrowse link
G MMP1 matrix metallopeptidase 1 disease_progression ISO DNA:polymorphisms, haplotypes:promoter:multiple
DNA:SNPs, haplotype:promoter:multiple
RGD PMID:20655738 PMID:22198560 RGD:8549726 RGD:8549727 NCBI chr 5:28,978,385...28,986,644
Ensembl chr 5:28,978,473...28,986,648
JBrowse link
G MMP2 matrix metallopeptidase 2 severity ISO mRNA:increased expression:skin RGD PMID:12404291 PMID:18251742 PMID:20966734 RGD:13204786 RGD:8657055 RGD:8657075 NCBI chr 2:60,471,092...60,492,991
Ensembl chr 2:60,471,257...60,494,113
JBrowse link
G MMP9 matrix metallopeptidase 9 disease progression ISO DNA:SNP, missense mutations:promoter, cds:-1562C>T,p.R279Q, p.P574R (human) RGD PMID:12404291 PMID:17346338 RGD:13204786 RGD:8547886 NCBI chr24:33,274,260...33,281,116
Ensembl chr24:33,274,268...33,281,293
JBrowse link
G OCA2 OCA2 melanosomal transmembrane protein susceptibility ISO DNA:snps:exon, intron:multiple (human)
DNA:missense mutation:cds:p.H615R (rs1800414) (human)
DNA:snp:cds:p.R419Q (rs1800407) (human)
RGD PMID:15889046 PMID:19710684 PMID:24617981 RGD:9491818 RGD:9491829 RGD:9491831 NCBI chr 3:32,361,825...32,713,631
Ensembl chr 3:32,361,517...32,713,572
JBrowse link
G PDCD4 programmed cell death 4 disease_progression ISO mRNA:decreased expression:skin (human) RGD PMID:26150475 RGD:11342032 NCBI chr28:22,198,274...22,227,184
Ensembl chr28:22,198,322...22,226,717
JBrowse link
G PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha ISO ClinVar Annotator: match by term: Cutaneous melanoma
ClinVar Annotator: match by term: Cutaneous melanoma | ClinVar Annotator: match by term: Malignant melanoma of skin
ClinVar PMID:15016963 PMID:15254419 PMID:15520168 PMID:15608678 PMID:15647370 More... NCBI chr34:12,600,140...12,681,905
Ensembl chr34:12,600,233...12,675,910
JBrowse link
G POT1 protection of telomeres 1 ISO ClinVar Annotator: match by term: Malignant melanoma of skin
ClinVar Annotator: match by term: DYSPLASTIC NEVUS SYNDROME, HEREDITARY
ClinVar PMID:24686846 PMID:25741868 PMID:26467025 PMID:28492532 PMID:30451293 More... NCBI chr14:10,987,385...11,067,473
Ensembl chr14:10,987,494...11,066,956
JBrowse link
G PTEN phosphatase and tensin homolog ISO ClinVar Annotator: match by term: Cutaneous melanoma | ClinVar Annotator: match by term: DYSPLASTIC NEVUS SYNDROME, HEREDITARY | ClinVar Annotator: match by term: Malignant melanoma of skin ClinVar PMID:1945792 PMID:9467011 PMID:9915974 PMID:10866302 PMID:11051241 More... NCBI chr26:37,853,148...37,913,176
Ensembl chr26:37,835,661...37,913,176
JBrowse link
G SLC45A2 solute carrier family 45 member 2 ISO ClinVar Annotator: match by term: Malignant melanoma of skin ClinVar PMID:15714523 PMID:17044855 PMID:17999355 PMID:18563784 PMID:18683857 More... NCBI chr 4:73,838,684...73,868,222
Ensembl chr 4:73,815,291...73,867,437
JBrowse link
G STAT3 signal transducer and activator of transcription 3 disease_progression ISO RGD PMID:21876460 RGD:8694297 NCBI chr 9:20,539,660...20,614,631
Ensembl chr 9:20,539,697...20,612,672
JBrowse link
G STK11 serine/threonine kinase 11 ISO ClinVar Annotator: match by term: DYSPLASTIC NEVUS SYNDROME, HEREDITARY ClinVar PMID:10201537 PMID:10208439 PMID:23555315 PMID:23993471 PMID:24033266 More... NCBI chr20:57,558,966...57,579,163
Ensembl chr20:57,559,424...57,579,118
JBrowse link
G TERT telomerase reverse transcriptase ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr34:11,288,622...11,307,790
Ensembl chr34:11,288,622...11,307,951
JBrowse link
G TP53 tumor protein p53 ISO ClinVar Annotator: match by term: Cutaneous melanoma | ClinVar Annotator: match by term: DYSPLASTIC NEVUS SYNDROME, HEREDITARY | ClinVar Annotator: match by term: Malignant melanoma of skin
ClinVar Annotator: match by term: Cutaneous melanoma | ClinVar Annotator: match by term: Malignant melanoma of skin
ClinVar PMID:253702 PMID:1349175 PMID:1359493 PMID:1565143 PMID:1565144 More... NCBI chr 5:32,561,406...32,565,149
Ensembl chr 5:32,560,598...32,574,109
JBrowse link
G TP73 tumor protein p73 ISO mRNA:increased expression:skin of body (human) RGD PMID:30420492 RGD:151347580 NCBI chr 5:58,194,385...58,241,159
Ensembl chr 5:58,187,826...58,240,839
JBrowse link
G TYR tyrosinase susceptibility ISO DNA:missense mutation:cds:p.R402Q(human) RGD PMID:21906913 RGD:8694390 NCBI chr21:10,799,940...10,894,187
Ensembl chr21:10,799,940...10,894,191
JBrowse link
G VDR vitamin D receptor no_association
susceptibility
ISO DNA:SNPs: :multiple
DNA:missense mutation, silent mutation: :p,M1T, p.I352 (c.1056T>C) (rs2228570, rs731236) (human)
RGD PMID:16990805 PMID:19615888 PMID:22576141 RGD:8157629 RGD:8158071 RGD:8158075 NCBI chr27:6,852,915...6,909,466
Ensembl chr27:6,852,723...6,909,470
JBrowse link
G XRCC3 X-ray repair cross complementing 3 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 8:71,441,732...71,452,922
Ensembl chr 8:71,442,429...71,449,408
JBrowse link
skin squamous cell carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CTCF CCCTC-binding factor ISO DNA:mutations:multiple (human) RGD PMID:27974201 RGD:151356739 NCBI chr 5:81,808,512...81,863,811
Ensembl chr 5:81,809,393...81,858,655
JBrowse link
G DDX5 DEAD-box helicase 5 ISO protein:increased expression:foreskin (human) RGD PMID:22548649 RGD:9850272 NCBI chr 9:12,300,706...12,307,931
Ensembl chr 9:12,300,708...12,307,663
JBrowse link
G FAT1 FAT atypical cadherin 1 disease_progression ISO associated with Neoplasm Metastasis RGD PMID:33328637 RGD:151347447 NCBI chr16:44,113,621...44,241,187
Ensembl chr16:44,128,386...44,241,192
JBrowse link
G FGF10 fibroblast growth factor 10 ISO protein:increased expression:skin (mouse) RGD PMID:24582960 RGD:126928134 NCBI chr 4:65,851,130...65,930,944
Ensembl chr 4:65,851,069...65,928,192
JBrowse link
G FYN FYN proto-oncogene, Src family tyrosine kinase ISO MouseDO NCBI chr12:68,105,060...68,316,630
Ensembl chr12:68,075,184...68,316,541
JBrowse link
G KNSTRN kinetochore localized astrin (SPAG5) binding protein ISO DNA:mutation:cds: p.Ser24Phe(human)
DNA:mutation:cds: p.Ala40Glu (human)
RGD PMID:25194279 PMID:30972880 RGD:28867225 RGD:28867226 NCBI chr30:7,562,738...7,573,514
Ensembl chr30:7,562,807...7,572,950
JBrowse link
G PTEN phosphatase and tensin homolog ameliorates ISO RGD PMID:24582960 RGD:126928134 NCBI chr26:37,853,148...37,913,176
Ensembl chr26:37,835,661...37,913,176
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15758
    disease of anatomical entity 15377
      integumentary system disease 4108
        integumentary system cancer 251
          skin cancer 251
            granular cell tumor of the sellar region 0
            labia minora cancer + 0
            labium majus cancer + 0
            malignant dermis tumor + 0
            malignant granular cell myoblastoma 0
            mediastinal granular cell myoblastoma 0
            prepuce cancer 0
            sebaceous carcinoma + 0
            skin carcinoma + 175
            skin glomus tumor 0
            skin melanoma + 81
            skin meningioma 0
            skin sarcoma + 0
            sweat gland cancer + 3
Path 2
Term Annotations click to browse term
  disease 15758
    Pathological Conditions, Signs and Symptoms 12321
      Signs and Symptoms 10316
        Neurologic Manifestations 9991
          sensory system disease 7035
            skin disease 4108
              Skin Neoplasms 489
                skin cancer 251
                  granular cell tumor of the sellar region 0
                  labia minora cancer + 0
                  labium majus cancer + 0
                  malignant dermis tumor + 0
                  malignant granular cell myoblastoma 0
                  mediastinal granular cell myoblastoma 0
                  prepuce cancer 0
                  sebaceous carcinoma + 0
                  skin carcinoma + 175
                  skin glomus tumor 0
                  skin melanoma + 81
                  skin meningioma 0
                  skin sarcoma + 0
                  sweat gland cancer + 3
paths to the root