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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 chrNW_004936521:5,639,193...5,671,369
Ensembl chrNW_004936521:5,651,719...5,671,050
JBrowse link
G Chuk component of inhibitor of nuclear factor kappa B kinase complex ISO RGD PMID:21755017 RGD:13504775 NCBI chrNW_004936636:33,933...78,990
Ensembl chrNW_004936636:33,673...79,194
JBrowse link
G Crkl CRK like proto-oncogene, adaptor protein ISO RGD PMID:16391854 RGD:7488899 NCBI chrNW_004936619:2,447,686...2,479,589
Ensembl chrNW_004936619:2,447,614...2,479,805
JBrowse link
G Pml PML nuclear body scaffold severity ISO human gene in a mouse model RGD PMID:19058256 RGD:41404688 NCBI chrNW_004936471:33,135,186...33,173,218
Ensembl chrNW_004936471:33,135,164...33,177,666
JBrowse link
G Snai1 snail family transcriptional repressor 1 ISO MouseDO NCBI chrNW_004936514:4,456,498...4,462,436
Ensembl chrNW_004936514:4,456,484...4,462,987
JBrowse link
G Srsf6 serine and arginine rich splicing factor 6 ISO protein:increased expression:skin (human) RGD PMID:24440982 RGD:11039481 NCBI chrNW_004936530:3,086,944...3,092,780
Ensembl chrNW_004936530:3,086,680...3,092,828
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 chrNW_004936630:2,286,089...2,518,588
Ensembl chrNW_004936630:2,286,153...2,517,511
JBrowse link
G Acaa2 acetyl-CoA acyltransferase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chrNW_004936497:13,242,644...13,269,007
Ensembl chrNW_004936497:13,242,644...13,269,532
JBrowse link
G Acadl acyl-CoA dehydrogenase long chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chrNW_004936845:66,674...96,248
Ensembl chrNW_004936845:66,241...96,249
JBrowse link
G Adam23 ADAM metallopeptidase domain 23 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chrNW_004936631:2,777,595...2,946,191
Ensembl chrNW_004936631:2,778,849...2,946,187
JBrowse link
G Alcam activated leukocyte cell adhesion molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chrNW_004936701:895,414...1,084,155
Ensembl chrNW_004936701:895,376...1,084,172
JBrowse link
G Alyref Aly/REF export factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chrNW_004936594:5,398,973...5,402,846 JBrowse link
G Arid5b AT-rich interaction domain 5B ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chrNW_004936614:1,072,263...1,252,573
Ensembl chrNW_004936614:1,072,260...1,252,283
JBrowse link
G Arpc1b actin related protein 2/3 complex subunit 1B ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chrNW_004936750:1,651,026...1,662,208
Ensembl chrNW_004936750:1,650,979...1,662,206
JBrowse link
G Asip agouti signaling protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:18488027 NCBI chrNW_004936561:6,341,667...6,346,440
Ensembl chrNW_004936561:6,341,623...6,346,458
JBrowse link
G Atf2 activating transcription factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chrNW_004936509:4,729,984...4,826,367
Ensembl chrNW_004936509:4,732,930...4,826,443
JBrowse link
G Atp5pb ATP synthase peripheral stalk-membrane subunit b ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chrNW_004936690:120,572...135,509 JBrowse link
G Bap1 BRCA1 associated deubiquitinase 1 ISO CTD Direct Evidence: marker/mechanism RGD
CTD
PMID:25080371 PMID:26719535 RGD:9586038 NCBI chrNW_004936473:3,239,009...3,247,806
Ensembl chrNW_004936473:3,239,010...3,247,806
JBrowse link
G Basp1 brain abundant membrane attached signal protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chrNW_004936480:19,695,949...19,812,681 JBrowse link
G Bnc2 basonuclin zinc finger protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chrNW_004936771:747,487...1,036,546
Ensembl chrNW_004936771:747,496...1,036,122
JBrowse link
G C1qa complement C1q A chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chrNW_004936474:8,007,953...8,010,591
Ensembl chrNW_004936474:8,008,534...8,010,191
JBrowse link
G C1qtnf1 C1q and TNF related 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chrNW_004936594:3,338,863...3,358,137
Ensembl chrNW_004936594:3,338,774...3,358,985
JBrowse link
G Cav1 caveolin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chrNW_004936589:2,504,235...2,536,778
Ensembl chrNW_004936589:2,504,224...2,537,170
JBrowse link
G Ccdc152 coiled-coil domain containing 152 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chrNW_004936518:167,017...208,187
Ensembl chrNW_004936518:167,017...208,187
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 chrNW_004936469:5,933,163...5,952,190
Ensembl chrNW_004936469:5,935,131...5,952,460
JBrowse link
G Chchd7 coiled-coil-helix-coiled-coil-helix domain containing 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chrNW_004936496:2,855,944...2,862,422
Ensembl chrNW_004936496:2,855,898...2,865,185
JBrowse link
G Chd3 chromodomain helicase DNA binding protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chrNW_004936595:1,131,198...1,154,615
Ensembl chrNW_004936595:1,130,078...1,157,822
JBrowse link
G Chga chromogranin A ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chrNW_004936733:915,700...927,220
Ensembl chrNW_004936733:915,830...927,409
JBrowse link
G Clptm1l CLPTM1 like ISO CTD Direct Evidence: marker/mechanism CTD PMID:19151717 NCBI chrNW_004936815:421,996...445,577
Ensembl chrNW_004936815:428,920...445,750
JBrowse link
G Creb5 cAMP responsive element binding protein 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chrNW_004936478:5,184,157...5,319,176
Ensembl chrNW_004936478:4,924,489...5,319,844
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 chrNW_004936485:328,077...351,323
Ensembl chrNW_004936485:327,835...350,132
JBrowse link
G Cspg4 chondroitin sulfate proteoglycan 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chrNW_004936471:34,438,676...34,475,005
Ensembl chrNW_004936471:34,438,676...34,475,052
JBrowse link
G Ctcf CCCTC-binding factor ISO DNA:mutations:multiple (human) RGD PMID:27974201 RGD:151356739 NCBI chrNW_004936475:17,987,137...18,031,733
Ensembl chrNW_004936475:17,987,156...18,031,760
JBrowse link
G Ctla4 cytotoxic T-lymphocyte associated protein 4 susceptibility ISO DNA:SNP: :rs3087243(human) RGD PMID:19622768 RGD:7411686 NCBI chrNW_004936631:484,356...489,643
Ensembl chrNW_004936631:484,356...489,643
JBrowse link
G Dclre1a DNA cross-link repair 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chrNW_004936486:4,199,527...4,221,984
Ensembl chrNW_004936486:4,199,410...4,221,761
JBrowse link
G Dcp1b decapping mRNA 1B ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chrNW_004936606:2,145,289...2,196,157
Ensembl chrNW_004936606:2,145,260...2,196,193
JBrowse link
G Dhx15 DEAH-box helicase 15 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chrNW_004936477:4,797,345...4,844,804 JBrowse link
G Dio2 iodothyronine deiodinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chrNW_004936488:8,769,555...8,783,157 JBrowse link
G Dsc2 desmocollin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chrNW_004936682:2,057,331...2,091,034
Ensembl chrNW_004936682:2,057,190...2,164,429
JBrowse link
G Dusp10 dual specificity phosphatase 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chrNW_004936650:679,650...718,867
Ensembl chrNW_004936650:679,647...720,038
JBrowse link
G Edn1 endothelin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chrNW_004936534:885,489...892,292
Ensembl chrNW_004936534:885,287...891,772
JBrowse link
G Elk3 ETS transcription factor ELK3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chrNW_004936507:12,244,163...12,307,621
Ensembl chrNW_004936507:12,244,163...12,307,623
JBrowse link
G Erbb2 erb-b2 receptor tyrosine kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26950094 NCBI chrNW_004936490:14,887,062...14,910,038
Ensembl chrNW_004936490:14,887,043...14,909,956
JBrowse link
G Fam234a family with sequence similarity 234 member A ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chrNW_004936501:648,859...679,012
Ensembl chrNW_004936501:649,017...656,930
JBrowse link
G Farp1 FERM, ARH/RhoGEF and pleckstrin domain protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chrNW_004936472:11,891,234...12,100,202
Ensembl chrNW_004936472:11,887,767...12,100,242
JBrowse link
G Fbn3 fibrillin 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chrNW_004936588:5,000,128...5,054,177
Ensembl chrNW_004936588:5,000,645...5,054,228
JBrowse link
G Fbxw7 F-box and WD repeat domain containing 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26950094 NCBI chrNW_004936689:2,261,163...2,449,951
Ensembl chrNW_004936689:2,259,477...2,344,764
JBrowse link
G Fmo2 flavin containing dimethylaniline monoxygenase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chrNW_004936481:15,885,375...15,910,216
Ensembl chrNW_004936481:15,885,280...15,910,267
JBrowse link
G Fnbp1l formin binding protein 1 like ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chrNW_004936537:5,671,517...5,789,480
Ensembl chrNW_004936537:5,671,331...5,790,054
JBrowse link
G Fscn1 fascin actin-bundling protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chrNW_004936765:609,894...619,417
Ensembl chrNW_004936765:609,861...619,456
JBrowse link
G Galnt15 polypeptide N-acetylgalactosaminyltransferase 15 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chrNW_004936473:8,974,884...9,016,222
Ensembl chrNW_004936473:8,975,948...9,016,228
JBrowse link
G Gjb6 gap junction protein beta 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chrNW_004936720:1,485,895...1,494,673
Ensembl chrNW_004936720:1,493,733...1,494,518
JBrowse link
G Gli2 GLI family zinc finger 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10700170 PMID:36428691 NCBI chrNW_004936469:49,616,552...49,788,760
Ensembl chrNW_004936469:49,617,095...49,673,213
JBrowse link
G Gpx8 glutathione peroxidase 8 (putative) ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chrNW_004936480:12,600,010...12,604,411
Ensembl chrNW_004936480:12,597,933...12,604,470
JBrowse link
G Grm5 glutamate metabotropic receptor 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chrNW_004936736:623,118...1,060,273
Ensembl chrNW_004936736:623,013...1,064,054
JBrowse link
G Gtf2i general transcription factor IIi ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chrNW_004936543:3,521,763...3,611,410
Ensembl chrNW_004936543:3,518,462...3,611,452
JBrowse link
G Hhip hedgehog interacting protein treatment ISO mRNA:increased expression:skin: RGD PMID:15024045 RGD:11552592 NCBI chrNW_004936535:4,210,305...4,305,930
Ensembl chrNW_004936535:4,210,305...4,305,930
JBrowse link
G Ift88 intraflagellar transport 88 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chrNW_004936720:1,041,216...1,168,725
Ensembl chrNW_004936720:1,041,211...1,168,748
JBrowse link
G Igf2bp1 insulin like growth factor 2 mRNA binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chrNW_004936490:12,430,343...12,468,794
Ensembl chrNW_004936490:12,430,008...12,469,083
JBrowse link
G Igf2bp2 insulin like growth factor 2 mRNA binding protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chrNW_004936578:4,070,997...4,222,661
Ensembl chrNW_004936578:4,070,955...4,222,427
JBrowse link
G Il6 interleukin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22108589 NCBI chrNW_004936549:7,015,595...7,016,246 JBrowse link
G Inpp4a inositol polyphosphate-4-phosphatase type I A ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chrNW_004936744:1,629,432...1,692,069
Ensembl chrNW_004936744:1,629,438...1,693,141
JBrowse link
G Irs4 insulin receptor substrate 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chrNW_004936499:6,111,422...6,127,487
Ensembl chrNW_004936499:6,111,487...6,115,272
JBrowse link
G Irx1 iroquois homeobox 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chrNW_004936634:3,130,197...3,135,273
Ensembl chrNW_004936634:3,130,167...3,135,537
JBrowse link
G Jun Jun proto-oncogene, AP-1 transcription factor subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chrNW_004936522:3,034,364...3,037,632
Ensembl chrNW_004936522:3,035,346...3,036,350
JBrowse link
G Krt5 keratin 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19578363 PMID:20871598 NCBI chrNW_004936512:9,923,593...9,929,517
Ensembl chrNW_004936512:9,922,523...9,929,517
JBrowse link
G Lats1 large tumor suppressor kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26950094 NCBI chrNW_004936489:2,607,114...2,649,879
Ensembl chrNW_004936489:2,605,195...2,649,879
JBrowse link
G Lef1 lymphoid enhancer binding factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chrNW_004936818:453,635...569,194
Ensembl chrNW_004936818:453,635...567,469
JBrowse link
G Lgr5 leucine rich repeat containing G protein-coupled receptor 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chrNW_004936568:530,314...662,524
Ensembl chrNW_004936568:530,188...663,520
JBrowse link
G Litaf lipopolysaccharide induced TNF factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chrNW_004936530:9,409,378...9,421,974
Ensembl chrNW_004936530:9,409,692...9,421,974
JBrowse link
G Lman1 lectin, mannose binding 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chrNW_004936497:5,383,636...5,409,347
Ensembl chrNW_004936497:5,383,524...5,408,452
JBrowse link
G LOC101967386 cytochrome c oxidase assembly factor 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chrNW_004936522:8,291,293...8,309,949
Ensembl chrNW_004936522:8,291,279...8,310,266
JBrowse link
G LOC101968645 THAP domain-containing protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chrNW_004936568:748,020...769,813
Ensembl chrNW_004936568:731,218...745,493
Ensembl chrNW_004936568:731,218...745,493
JBrowse link
G LOC101972068 cytochrome c oxidase assembly factor 3 homolog, mitochondrial ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chrNW_004936490:17,508,663...17,509,538
Ensembl chrNW_004936490:17,508,663...17,509,582
JBrowse link
G LOC101972766 tubulin alpha-1A chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chrNW_004936512:6,959,656...6,964,299
Ensembl chrNW_004936512:6,958,985...6,964,299
JBrowse link
G Lpl lipoprotein lipase ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chrNW_004936555:4,084,099...4,108,219
Ensembl chrNW_004936555:4,084,099...4,108,365
JBrowse link
G Lrig3 leucine rich repeats and immunoglobulin like domains 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chrNW_004936646:2,889,331...2,929,836
Ensembl chrNW_004936646:2,886,069...2,929,552
JBrowse link
G Lrrcc1 leucine rich repeat and coiled-coil centrosomal protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chrNW_004936544:78,450...114,341
Ensembl chrNW_004936544:78,440...114,314
JBrowse link
G Ltbp1 latent transforming growth factor beta binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chrNW_004936493:253,390...640,140
Ensembl chrNW_004936493:253,216...640,140
JBrowse link
G Marcksl1 MARCKS like 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chrNW_004936474:15,351,599...15,354,285 JBrowse link
G Mc1r melanocortin 1 receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539553 NCBI chrNW_004936641:193,885...198,730 JBrowse link
G Mex3a mex-3 RNA binding family member A ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chrNW_004936580:5,334,026...5,339,536
Ensembl chrNW_004936580:5,334,575...5,339,507
JBrowse link
G Mgat5 alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chrNW_004936469:57,615,755...57,875,156
Ensembl chrNW_004936469:57,674,982...57,875,107
JBrowse link
G Mmp11 matrix metallopeptidase 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chrNW_004936619:1,309,013...1,320,062
Ensembl chrNW_004936619:1,310,846...1,320,062
JBrowse link
G Mpped1 metallophosphoesterase domain containing 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chrNW_004936718:1,217,066...1,283,558
Ensembl chrNW_004936718:1,217,166...1,282,978
JBrowse link
G Mycn MYCN proto-oncogene, bHLH transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:26950094 NCBI chrNW_004936493:14,618,176...14,624,201
Ensembl chrNW_004936493:14,618,060...14,624,315
JBrowse link
G Myh9 myosin heavy chain 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chrNW_004936492:4,384,215...4,466,229
Ensembl chrNW_004936492:4,384,215...4,466,262
JBrowse link
G Nnmt nicotinamide N-methyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chrNW_004936612:333,421...351,202
Ensembl chrNW_004936612:333,421...351,202
JBrowse link
G Nudcd1 NudC domain containing 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chrNW_004936470:35,649,752...35,709,569
Ensembl chrNW_004936470:35,649,742...35,711,985
JBrowse link
G Nxn nucleoredoxin ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chrNW_004936538:6,966,296...6,995,691 JBrowse link
G Oca2 OCA2 melanosomal transmembrane protein susceptibility ISO DNA:missense mutation:cds:p.R419Q (rs1800407) (human)
DNA:snps:intron:IVS1+132A>G (rs7495174), IVS1+8550A>G (rs11855019), IVS1+15605G>A (rs7174027) (human)
RGD PMID:19384953 PMID:21270109 RGD:9491840 RGD:9491841 NCBI chrNW_004936471:38,612,450...38,952,150
Ensembl chrNW_004936471:38,612,427...38,952,199
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 chrNW_004936602:3,411,106...3,418,826
Ensembl chrNW_004936602:3,413,282...3,418,831
JBrowse link
G Oscp1 organic solute carrier partner 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chrNW_004936474:18,832,866...18,864,540
Ensembl chrNW_004936474:18,830,650...18,864,713
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 chrNW_004936501:8,246,927...8,273,258 JBrowse link
G Palm paralemmin ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chrNW_004936588:270,431...283,925
Ensembl chrNW_004936588:270,425...283,974
JBrowse link
G Peli2 pellino E3 ubiquitin protein ligase family member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chrNW_004936495:895,903...1,011,486
Ensembl chrNW_004936495:875,645...1,012,081
JBrowse link
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:26950094 NCBI chrNW_004936566:3,924,013...3,951,052
Ensembl chrNW_004936566:3,923,934...3,951,073
JBrowse link
G Plag1 PLAG1 zinc finger ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chrNW_004936496:2,809,878...2,855,515
Ensembl chrNW_004936496:2,814,583...2,855,527
JBrowse link
G Pnma1 PNMA family member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chrNW_004936488:2,992,021...2,994,647
Ensembl chrNW_004936488:2,992,828...2,993,889
JBrowse link
G Ppp6c protein phosphatase 6 catalytic subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:26950094 NCBI chrNW_004936487:13,284,652...13,320,936
Ensembl chrNW_004936487:13,283,931...13,321,526
JBrowse link
G Procr protein C receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chrNW_004936561:5,557,640...5,562,981
Ensembl chrNW_004936561:5,557,630...5,563,030
JBrowse link
G Ptch1 patched 1 disease_progression ISO 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
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
mRNA:increased expression:skin of body
ClinVar
OMIM
RGD
PMID:8782823 PMID:8840969 PMID:9620294 PMID:10504535 PMID:11231326 More... RGD:12801453 NCBI chrNW_004936626:4,241,993...4,301,919
Ensembl chrNW_004936626:4,241,908...4,309,476
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 chrNW_004936474:26,052,277...26,069,500
Ensembl chrNW_004936474:26,052,305...26,069,312
JBrowse link
G Ptpn14 protein tyrosine phosphatase non-receptor type 14 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26950094 NCBI chrNW_004936628:3,739,223...3,916,157
Ensembl chrNW_004936628:3,739,152...3,907,662
JBrowse link
G Pycr2 pyrroline-5-carboxylate reductase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chrNW_004936526:2,721,579...2,726,699
Ensembl chrNW_004936526:2,720,521...2,726,762
JBrowse link
G Rab28 RAB28, member RAS oncogene family ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chrNW_004936477:14,066,063...14,140,310 JBrowse link
G Rac3 Rac family small GTPase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chrNW_004936594:5,527,788...5,530,694
Ensembl chrNW_004936594:5,528,908...5,531,420
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 chrNW_004936469:5,839,560...5,933,049
Ensembl chrNW_004936469:5,839,743...5,932,021
JBrowse link
G Rb1 RB transcriptional corepressor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26950094 NCBI chrNW_004936565:1,596,227...1,746,706
Ensembl chrNW_004936565:1,597,593...1,746,846
JBrowse link
G Rbp1 retinol binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chrNW_004936540:1,600,673...1,626,573
Ensembl chrNW_004936540:1,600,398...1,626,652
JBrowse link
G Rgcc regulator of cell cycle ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chrNW_004936667:232,807...245,131
Ensembl chrNW_004936667:232,782...245,131
JBrowse link
G Rock1 Rho associated coiled-coil containing protein kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chrNW_004936550:730,462...874,601
Ensembl chrNW_004936550:733,239...874,601
JBrowse link
G Rpe65 retinoid isomerohydrolase RPE65 ISO mRNA:increased expression:skin (human) RGD PMID:16181461 RGD:9495923 NCBI chrNW_004936591:3,347,346...3,368,062
Ensembl chrNW_004936591:3,347,272...3,368,015
JBrowse link
G Runx1t1 RUNX1 partner transcriptional co-repressor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chrNW_004936544:5,381,829...5,514,364
Ensembl chrNW_004936544:5,383,350...5,522,018
JBrowse link
G Scamp5 secretory carrier membrane protein 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chrNW_004936471:33,936,721...33,958,439
Ensembl chrNW_004936471:33,936,531...33,958,573
Ensembl chrNW_004936471:33,936,531...33,958,573
JBrowse link
G Setbp1 SET binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chrNW_004936517:1,616,169...1,798,002
Ensembl chrNW_004936517:1,616,169...1,970,398
JBrowse link
G Sh3bp4 SH3 domain binding protein 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chrNW_004936525:2,693,828...2,757,480
Ensembl chrNW_004936525:2,692,786...2,707,177
JBrowse link
G Shh sonic hedgehog signaling molecule ISO DNA, protein:hypermethylation, decreased expression:skin of body RGD PMID:23284750 RGD:12801452 NCBI chrNW_004936527:10,033,095...10,042,713
Ensembl chrNW_004936527:10,033,299...10,042,599
JBrowse link
G Shox2 SHOX homeobox 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chrNW_004936519:4,810,777...4,818,733
Ensembl chrNW_004936519:4,809,687...4,818,792
JBrowse link
G Slc45a2 solute carrier family 45 member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19578363 NCBI chrNW_004936518:7,094,949...7,139,961
Ensembl chrNW_004936518:7,095,038...7,137,277
JBrowse link
G Slc7a2 solute carrier family 7 member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chrNW_004936614:111,625...184,571
Ensembl chrNW_004936614:157,828...184,583
JBrowse link
G Slco2a1 solute carrier organic anion transporter family member 2A1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chrNW_004936529:7,069,003...7,155,229
Ensembl chrNW_004936529:7,068,970...7,155,950
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 chrNW_004936579:5,893,064...5,917,021
Ensembl chrNW_004936579:5,892,542...5,917,281
JBrowse link
G Sobp sine oculis binding protein homolog ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chrNW_004936564:3,855,526...4,000,809
Ensembl chrNW_004936564:3,855,672...3,982,401
JBrowse link
G Sox18 SRY-box transcription factor 18 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chrNW_004936514:11,231,327...11,233,292
Ensembl chrNW_004936514:11,231,305...11,233,337
JBrowse link
G Spon2 spondin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chrNW_004936477:22,087,450...22,093,677
Ensembl chrNW_004936477:22,087,394...22,093,723
JBrowse link
G Srgap1 SLIT-ROBO Rho GTPase activating protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chrNW_004936545:2,277,449...2,557,330
Ensembl chrNW_004936545:2,278,290...2,552,552
JBrowse link
G Ssr3 signal sequence receptor subunit 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chrNW_004936519:3,556,103...3,571,706
Ensembl chrNW_004936519:3,555,224...3,571,638
JBrowse link
G Stmn1 stathmin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chrNW_004936474:10,470,006...10,475,557
Ensembl chrNW_004936474:10,468,728...10,475,594
JBrowse link
G Sufu SUFU negative regulator of hedgehog signaling ISO CTD Direct Evidence: marker/mechanism CTD PMID:26950094 NCBI chrNW_004936600:3,270,662...3,381,722
Ensembl chrNW_004936600:3,268,260...3,381,781
JBrowse link
G Synj1 synaptojanin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chrNW_004936500:9,484,571...9,565,980
Ensembl chrNW_004936500:9,484,586...9,566,100
JBrowse link
G Tbx1 T-box transcription factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chrNW_004936619:3,662,567...3,670,470
Ensembl chrNW_004936619:3,664,468...3,670,525
JBrowse link
G Tert telomerase reverse transcriptase ISO CTD Direct Evidence: marker/mechanism CTD PMID:19151717 NCBI chrNW_004936815:468,987...492,666
Ensembl chrNW_004936815:469,020...491,697
JBrowse link
G Tgfb2 transforming growth factor beta 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chrNW_004936628:310,720...394,002
Ensembl chrNW_004936628:308,691...394,007
JBrowse link
G Tgs1 trimethylguanosine synthase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chrNW_004936496:2,484,700...2,524,650
Ensembl chrNW_004936496:2,484,864...2,524,540
JBrowse link
G Tm4sf1 transmembrane 4 L six family member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chrNW_004936519:6,306,281...6,314,045
Ensembl chrNW_004936519:6,305,881...6,314,113
JBrowse link
G Tmco3 transmembrane and coiled-coil domains 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chrNW_004936472:248,518...285,724
Ensembl chrNW_004936472:248,979...280,977
JBrowse link
G Tmem104 transmembrane protein 104 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chrNW_004936594:142,820...195,223
Ensembl chrNW_004936594:142,786...195,254
JBrowse link
G Tmem170a transmembrane protein 170A ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chrNW_004936475:24,168,798...24,184,519
Ensembl chrNW_004936475:24,169,224...24,184,505
JBrowse link
G Tmem176b transmembrane protein 176B ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chrNW_004936527:6,258,858...6,269,604
Ensembl chrNW_004936527:6,258,856...6,264,323
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 OMIM
ClinVar
PMID:1565143 PMID:1565144 PMID:1591732 PMID:1631137 PMID:1683921 More... NCBI chrNW_004936595:919,807...935,367
Ensembl chrNW_004936595:919,428...925,425
JBrowse link
G Tril TLR4 interactor with leucine rich repeats ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chrNW_004936478:5,453,532...5,459,071 JBrowse link
G Tyr tyrosinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:18488027 NCBI chrNW_004936736:421,623...519,085
Ensembl chrNW_004936736:421,598...519,253
JBrowse link
G Ubac2 UBA domain containing 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chrNW_004936472:11,118,227...11,278,636
Ensembl chrNW_004936472:11,118,218...11,277,301
JBrowse link
G Ust uronyl 2-sulfotransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chrNW_004936489:1,866,792...2,133,558
Ensembl chrNW_004936489:1,867,249...2,134,874
JBrowse link
G Vash2 vasohibin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chrNW_004936557:622,947...661,495
Ensembl chrNW_004936557:623,934...661,857
JBrowse link
G Vcan versican ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chrNW_004936469:2,585,142...2,688,029
Ensembl chrNW_004936469:2,585,134...2,688,029
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 chrNW_004936512:5,741,836...5,800,999
Ensembl chrNW_004936512:5,740,748...5,801,109
JBrowse link
G Vps37d VPS37D subunit of ESCRT-I ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chrNW_004936543:2,887,723...2,890,907
Ensembl chrNW_004936543:2,887,708...2,890,946
JBrowse link
G Whr1 winged helix repair factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26950094 NCBI chrNW_004936727:1,570,650...1,576,796
Ensembl chrNW_004936727:1,570,678...1,577,026
JBrowse link
G Xpa XPA, DNA damage recognition and repair factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:17687452 NCBI chrNW_004936524:6,467,365...6,493,556
Ensembl chrNW_004936524:6,465,104...6,493,610
JBrowse link
G Xrcc3 X-ray repair cross complementing 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16501254 NCBI chrNW_004936621:1,462,441...1,474,937
Ensembl chrNW_004936621:1,462,428...1,473,868
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 chrNW_004936586:1,055,478...1,137,924
Ensembl chrNW_004936586:1,055,335...1,137,984
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 chrNW_004936492:303,843...325,812
Ensembl chrNW_004936492:300,057...325,845
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 chrNW_004936626:4,241,993...4,301,919
Ensembl chrNW_004936626:4,241,908...4,309,476
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 chrNW_004936566:3,924,013...3,951,052
Ensembl chrNW_004936566:3,923,934...3,951,073
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 chrNW_004936512:6,819,240...6,860,852
Ensembl chrNW_004936512:6,822,057...6,854,451
JBrowse link
G Mre11 MRE11 homolog, double strand break repair nuclease ISO ClinVar Annotator: match by term: Eccrine porocarcinoma ClinVar NCBI chrNW_004936674:466,495...528,072
Ensembl chrNW_004936674:466,456...530,317
JBrowse link
G Tbx3 T-box transcription factor 3 ISO ClinVar Annotator: match by term: Eccrine porocarcinoma ClinVar NCBI chrNW_004936558:7,230,361...7,243,651
Ensembl chrNW_004936558:7,230,668...7,244,361
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 chrNW_004936646:1,865,154...1,881,614
Ensembl chrNW_004936646:1,865,395...1,876,453
JBrowse link
G Arhgap9 Rho GTPase activating protein 9 ISO ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:28492532 NCBI chrNW_004936646:1,629,814...1,637,535
Ensembl chrNW_004936646:1,630,029...1,638,571
JBrowse link
G Arhgef25 Rho guanine nucleotide exchange factor 25 ISO ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:28492532 NCBI chrNW_004936646:1,754,803...1,762,996
Ensembl chrNW_004936646:1,754,727...1,764,544
JBrowse link
G B4galnt1 beta-1,4-N-acetyl-galactosaminyltransferase 1 ISO ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:28492532 NCBI chrNW_004936646:1,770,412...1,777,152
Ensembl chrNW_004936646:1,770,930...1,777,173
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 chrNW_004936473:3,239,009...3,247,806
Ensembl chrNW_004936473:3,239,010...3,247,806
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, 10 ClinVar
OMIM
PMID:2500657 PMID:16439621 PMID:16474404 PMID:17366577 PMID:17551924 More... NCBI chrNW_004936592:4,728,371...4,833,830
Ensembl chrNW_004936592:4,737,011...4,834,664
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, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3
ClinVar Annotator: match by term: Cutaneous Malignant Melanoma, Dominant | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 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: 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, 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, 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
OMIM
ClinVar
PMID:5377176 PMID:7652577 PMID:8528263 PMID:8968104 PMID:9228064 More... NCBI chrNW_004936646:1,886,262...1,889,260 JBrowse link
G Cdkn2b cyclin dependent kinase inhibitor 2B ISO ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:9622062 PMID:28492532 NCBI chrNW_004936652:3,576,975...3,582,790
Ensembl chrNW_004936652:3,538,986...3,581,159
JBrowse link
G Dctn2 dynactin subunit 2 ISO ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:28492532 NCBI chrNW_004936646:1,678,678...1,695,142
Ensembl chrNW_004936646:1,678,678...1,695,142
JBrowse link
G Ddit3 DNA damage inducible transcript 3 ISO ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:28492532 NCBI chrNW_004936646:1,665,019...1,669,212 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 chrNW_004936473:3,170,060...3,238,608
Ensembl chrNW_004936473:3,170,060...3,238,282
JBrowse link
G Dtx3 deltex E3 ubiquitin ligase 3 ISO ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:28492532 NCBI chrNW_004936646:1,749,061...1,754,399
Ensembl chrNW_004936646:1,751,387...1,754,353
JBrowse link
G Eef1akmt3 EEF1A lysine methyltransferase 3 ISO ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:28492532 NCBI chrNW_004936646:1,908,581...1,917,376
Ensembl chrNW_004936646:1,908,619...1,917,330
JBrowse link
G Fanca FA complementation group A ISO ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 ClinVar PMID:28492532 NCBI chrNW_004936641:281,119...319,796
Ensembl chrNW_004936641:281,073...324,053
JBrowse link
G Gli1 GLI family zinc finger 1 ISO ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:28492532 NCBI chrNW_004936646:1,622,308...1,629,787
Ensembl chrNW_004936646:1,622,308...1,629,779
JBrowse link
G Inhbc inhibin subunit beta C ISO ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:28492532 NCBI chrNW_004936646:1,603,276...1,610,051
Ensembl chrNW_004936646:1,603,276...1,610,051
JBrowse link
G Inhbe inhibin subunit beta E ISO ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:28492532 NCBI chrNW_004936646:1,614,902...1,616,482
Ensembl chrNW_004936646:1,614,745...1,616,279
JBrowse link
G Kif5a kinesin family member 5A ISO ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:28492532 NCBI chrNW_004936646:1,697,531...1,730,376
Ensembl chrNW_004936646:1,697,492...1,732,832
JBrowse link
G Klc1 kinesin light chain 1 ISO ClinVar Annotator: match by term: Cutaneous malignant melanoma 6 ClinVar PMID:11059748 PMID:28492532 NCBI chrNW_004936621:1,471,574...1,505,119
Ensembl chrNW_004936621:1,543,444...1,560,076
Ensembl chrNW_004936621:1,543,444...1,560,076
JBrowse link
G LOC101978323 25-hydroxyvitamin D-1 alpha hydroxylase, mitochondrial ISO ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:28492532 NCBI chrNW_004936646:1,899,686...1,904,104
Ensembl chrNW_004936646:1,900,259...1,904,104
JBrowse link
G Lrp1 LDL receptor related protein 1 ISO ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:28492532 NCBI chrNW_004936646:1,326,900...1,407,236
Ensembl chrNW_004936646:1,327,374...1,406,456
JBrowse link
G Marchf9 membrane associated ring-CH-type finger 9 ISO ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:28492532 NCBI chrNW_004936646:1,893,237...1,896,577
Ensembl chrNW_004936646:1,873,643...1,896,051
JBrowse link
G Mars1 methionyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:28492532 NCBI chrNW_004936646:1,644,457...1,665,081
Ensembl chrNW_004936646:1,644,457...1,665,086
JBrowse link
G Mbd6 methyl-CpG binding domain protein 6 ISO ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:28492532 NCBI chrNW_004936646:1,669,281...1,678,512 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, 5
ClinVar Annotator: match by term: Cutaneous malignant melanoma 5 | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 2 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5
OMIM
ClinVar
PMID:7581459 PMID:8605020 PMID:8894704 PMID:8944016 PMID:8990005 More... NCBI chrNW_004936641:193,885...198,730 JBrowse link
G Mettl1 methyltransferase 1, tRNA methylguanosine ISO ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:28492532 NCBI chrNW_004936646:1,905,063...1,908,968
Ensembl chrNW_004936646:1,904,599...1,908,545
JBrowse link
G Mitf melanocyte inducing transcription factor ISO ClinVar Annotator: match by term: MELANOMA AND RENAL CELL CARCINOMA, SUSCEPTIBILITY TO
ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: MELANOMA AND RENAL CELL CARCINOMA, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 8
ClinVar Annotator: match by term: MELANOMA AND RENAL CELL CARCINOMA, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 8
ClinVar
OMIM
PMID:2440678 PMID:8589691 PMID:8659547 PMID:9536098 PMID:10587587 More... NCBI chrNW_004936603:1,682,411...1,858,295
Ensembl chrNW_004936603:1,682,513...1,858,173
JBrowse link
G Ndufa4l2 NDUFA4 mitochondrial complex associated like 2 ISO ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:28492532 NCBI chrNW_004936646:1,428,025...1,430,215 JBrowse link
G Nxph4 neurexophilin 4 ISO ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:28492532 NCBI chrNW_004936646:1,410,937...1,421,383
Ensembl chrNW_004936646:1,410,931...1,421,531
JBrowse link
G Os9 OS9 endoplasmic reticulum lectin ISO ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:28492532 NCBI chrNW_004936646:1,832,434...1,860,200
Ensembl chrNW_004936646:1,832,015...1,859,576
JBrowse link
G Pip4k2c phosphatidylinositol-5-phosphate 4-kinase type 2 gamma ISO ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:28492532 NCBI chrNW_004936646:1,737,088...1,748,056
Ensembl chrNW_004936646:1,737,034...1,748,057
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, 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: 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, 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: 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 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: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5
ClinVar Annotator: match by term: Cutaneous malignant melanoma 5 | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 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
OMIM
PMID:9536098 PMID:16199547 PMID:17576681 PMID:19461895 PMID:19763152 More... NCBI chrNW_004936605:836,824...919,099
Ensembl chrNW_004936605:836,769...920,201
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 chrNW_004936735:1,252,414...1,338,318
Ensembl chrNW_004936735:1,252,414...1,338,323
JBrowse link
G R3hdm2 R3H domain containing 2 ISO ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:28492532 NCBI chrNW_004936646:1,447,704...1,571,363
Ensembl chrNW_004936646:1,448,362...1,494,637
JBrowse link
G Shmt2 serine hydroxymethyltransferase 2 ISO ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 ClinVar PMID:28492532 NCBI chrNW_004936646:1,422,844...1,427,929
Ensembl chrNW_004936646:1,422,817...1,429,037
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 chrNW_004936641:236,135...246,004
Ensembl chrNW_004936641:236,135...245,916
JBrowse link
G Stac3 SH3 and cysteine rich domain 3 ISO ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:28492532 NCBI chrNW_004936646:1,436,505...1,444,712
Ensembl chrNW_004936646:1,436,425...1,443,595
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 chrNW_004936588:579,816...601,033
Ensembl chrNW_004936588:579,816...603,654
JBrowse link
G Tcf25 transcription factor 25 ISO ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 ClinVar PMID:28492532 NCBI chrNW_004936641:202,522...232,962
Ensembl chrNW_004936641:202,624...232,962
JBrowse link
G Tert telomerase reverse transcriptase ISO ClinVar Annotator: match by term: Cutaneous malignant melanoma 9 | ClinVar Annotator: match by term: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 9 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 1 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 9
ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 9 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 1 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 9
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 chrNW_004936815:468,987...492,666
Ensembl chrNW_004936815:469,020...491,697
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 chrNW_004936595:919,807...935,367
Ensembl chrNW_004936595:919,428...925,425
JBrowse link
G Tsfm Ts translation elongation factor, mitochondrial ISO ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:28492532 NCBI chrNW_004936646:1,919,326...1,936,694
Ensembl chrNW_004936646:1,908,304...1,930,287
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: 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: Melanoma, cutaneous malignant, susceptibility to, 5
ClinVar PMID:9536098 PMID:17576681 PMID:20668451 PMID:21520333 PMID:23718828 More... NCBI chrNW_004936646:1,883,272...1,886,287
Ensembl chrNW_004936646:1,883,341...1,889,284
JBrowse link
G Tyr tyrosinase ISO ClinVar Annotator: match by term: MELANOMA AND RENAL CELL CARCINOMA, SUSCEPTIBILITY TO
ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10
ClinVar PMID:666627 PMID:1429711 PMID:1820207 PMID:7704033 PMID:9158138 More... NCBI chrNW_004936736:421,623...519,085
Ensembl chrNW_004936736:421,598...519,253
JBrowse link
G Xrcc3 X-ray repair cross complementing 3 ISO ClinVar Annotator: match by term: Cutaneous malignant melanoma 6 OMIM
ClinVar
PMID:11059748 PMID:28492532 NCBI chrNW_004936621:1,462,441...1,474,937
Ensembl chrNW_004936621:1,462,428...1,473,868
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 OMIM
ClinVar
PMID:2511639 PMID:2647812 PMID:5173258 PMID:8499949 PMID:16596670 More... NCBI chrNW_004936524:7,656,523...7,680,043
Ensembl chrNW_004936524:7,655,847...7,681,097
JBrowse link
keratoacanthoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC101965998 notch receptor 2 ISO ClinVar Annotator: match by term: Keratoacanthoma ClinVar PMID:27283355 NCBI chrNW_004936872:454,273...539,544
Ensembl chrNW_004936872:390,852...536,321
JBrowse link
G Notch1 notch receptor 1 ISO ClinVar Annotator: match by term: Keratoacanthoma ClinVar PMID:27283355 NCBI chrNW_004936669:1,292,016...1,334,061
Ensembl chrNW_004936669:1,292,088...1,332,428
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 chrNW_004936566:3,924,013...3,951,052
Ensembl chrNW_004936566:3,923,934...3,951,073
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 chrNW_004936595:858,289...861,131 JBrowse link
G Fgfr3 fibroblast growth factor receptor 3 ISO mRNA:decreased expression:skin (human) RGD PMID:28359267 RGD:38500206 NCBI chrNW_004936477:21,591,772...21,606,289
Ensembl chrNW_004936477:21,591,792...21,606,296
JBrowse link
G Myc MYC proto-oncogene, bHLH transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:25277525 NCBI chrNW_004936470:20,480,844...20,485,955
Ensembl chrNW_004936470:20,480,829...20,485,965
JBrowse link
G Spa17 sperm autoantigenic protein 17 ISO mRNA,protein:increased expression:nucleus RGD PMID:31218705 RGD:27226803 Ensembl chrNW_004936743:1,141,879...1,163,720 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 chrNW_004936469:5,933,163...5,952,190
Ensembl chrNW_004936469:5,935,131...5,952,460
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 chrNW_004936626:4,241,993...4,301,919
Ensembl chrNW_004936626:4,241,908...4,309,476
JBrowse link
G Ptch2 patched 2 ISO ClinVar Annotator: match by term: Basal cell carcinoma, multiple ClinVar PMID:25741868 PMID:28492532 PMID:31945512 NCBI chrNW_004936474:26,052,277...26,069,500
Ensembl chrNW_004936474:26,052,305...26,069,312
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 chrNW_004936469:5,839,560...5,933,049
Ensembl chrNW_004936469:5,839,743...5,932,021
JBrowse link
G Smo smoothened, frizzled class receptor ISO ClinVar Annotator: match by term: Basal cell carcinoma, multiple ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936579:5,893,064...5,917,021
Ensembl chrNW_004936579:5,892,542...5,917,281
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 chrNW_004936677:2,248,153...2,290,802
Ensembl chrNW_004936677:2,248,903...2,289,151
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 chrNW_004936626:3,704,474...3,973,913
Ensembl chrNW_004936626:3,667,123...3,970,433
JBrowse link
G Arl3 ARF like GTPase 3 ISO ClinVar Annotator: match by term: Gorlin syndrome ClinVar PMID:12068298 PMID:22508808 PMID:25403219 PMID:28492532 PMID:31639285 NCBI chrNW_004936600:3,190,212...3,229,831
Ensembl chrNW_004936600:3,190,208...3,232,755
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 chrNW_004936626:3,980,311...4,147,042
Ensembl chrNW_004936626:3,982,647...4,159,976
JBrowse link
G Gli1 GLI family zinc finger 1 ISO RGD PMID:15308259 RGD:12801443 NCBI chrNW_004936646:1,622,308...1,629,787
Ensembl chrNW_004936646:1,622,308...1,629,779
JBrowse link
G Gli2 GLI family zinc finger 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16936257 NCBI chrNW_004936469:49,616,552...49,788,760
Ensembl chrNW_004936469:49,617,095...49,673,213
JBrowse link
G LOC101970767 steroid 17-alpha-hydroxylase/17,20 lyase ISO ClinVar Annotator: match by term: Gorlin syndrome ClinVar PMID:12068298 PMID:22508808 PMID:25403219 PMID:28492532 PMID:31639285 NCBI chrNW_004936600:3,097,620...3,102,713
Ensembl chrNW_004936600:3,097,638...3,102,713
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 chrNW_004936626:4,241,993...4,301,919
Ensembl chrNW_004936626:4,241,908...4,309,476
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 chrNW_004936474:26,052,277...26,069,500
Ensembl chrNW_004936474:26,052,305...26,069,312
JBrowse link
G Pth parathyroid hormone ISO CTD Direct Evidence: marker/mechanism CTD PMID:24803734 NCBI chrNW_004936528:5,081,569...5,084,030
Ensembl chrNW_004936528:5,083,596...5,084,030
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 chrNW_004936600:3,173,472...3,190,041
Ensembl chrNW_004936600:3,173,336...3,188,649
JBrowse link
G Shh sonic hedgehog signaling molecule ISO MouseDO
RGD
PMID:9115210 RGD:12802345 NCBI chrNW_004936527:10,033,095...10,042,713
Ensembl chrNW_004936527:10,033,299...10,042,599
JBrowse link
G Smo smoothened, frizzled class receptor ISO RGD PMID:15308259 RGD:12801443 NCBI chrNW_004936579:5,893,064...5,917,021
Ensembl chrNW_004936579:5,892,542...5,917,281
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 chrNW_004936600:3,270,662...3,381,722
Ensembl chrNW_004936600:3,268,260...3,381,781
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 chrNW_004936600:3,244,888...3,259,042
Ensembl chrNW_004936600:3,244,405...3,259,218
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 chrNW_004936600:3,111,377...3,125,244 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 ClinVar
OMIM
PMID:8658145 PMID:8681379 PMID:12900905 PMID:16199547 PMID:16301862 More... NCBI chrNW_004936626:4,241,993...4,301,919
Ensembl chrNW_004936626:4,241,908...4,309,476
JBrowse link
G Ptch2 patched 2 ISO ClinVar Annotator: match by term: Basal cell nevus syndrome 1 ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936474:26,052,277...26,069,500
Ensembl chrNW_004936474:26,052,305...26,069,312
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 OMIM
ClinVar
PMID:12068298 PMID:19533801 PMID:19833601 PMID:21188540 PMID:22508808 More... NCBI chrNW_004936600:3,270,662...3,381,722
Ensembl chrNW_004936600:3,268,260...3,381,781
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 chrNW_004936647:2,242,476...2,342,409
Ensembl chrNW_004936647:2,242,319...2,336,532
JBrowse link
G Agt angiotensinogen ISO protein:increased expression:serum RGD PMID:19394758 RGD:8548874 NCBI chrNW_004936484:19,713,299...19,721,144
Ensembl chrNW_004936484:19,716,165...19,721,261
JBrowse link
G Arhgap44 Rho GTPase activating protein 44 severity ISO DNA:SNP:intron: (rs72635537) (human) RGD PMID:28510328 RGD:401901274 NCBI chrNW_004936595:5,373,645...5,542,915
Ensembl chrNW_004936595:5,373,476...5,543,073
JBrowse link
G Bap1 BRCA1 associated deubiquitinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25231345 PMID:26719535 NCBI chrNW_004936473:3,239,009...3,247,806
Ensembl chrNW_004936473:3,239,010...3,247,806
JBrowse link
G Birc2 baculoviral IAP repeat containing 2 exacerbates ISO mRNA:increased expression:zone of skin (human) RGD PMID:31964418 RGD:153344516 NCBI chrNW_004936551:5,515,904...5,535,864 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 chrNW_004936592:4,728,371...4,833,830
Ensembl chrNW_004936592:4,737,011...4,834,664
JBrowse link
G Brca2 BRCA2 DNA repair associated disease_progression ISO DNA:SNP: :rs206118, rs3752447, rs10492396 (human) RGD PMID:25243787 RGD:11344896 NCBI chrNW_004936472:26,945,659...27,017,693 JBrowse link
G Cd40 CD40 molecule disease_progression ISO RGD PMID:8952530 RGD:8547772 NCBI chrNW_004936514:6,936,915...6,947,246
Ensembl chrNW_004936514:6,936,572...6,947,280
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 chrNW_004936646:1,886,262...1,889,260 JBrowse link
G Chaf1b chromatin assembly factor 1 subunit B severity ISO protein:increased expression:skin: RGD PMID:20178651 RGD:9587476 NCBI chrNW_004936500:6,262,207...6,288,833
Ensembl chrNW_004936500:6,262,229...6,288,839
JBrowse link
G Cnr1 cannabinoid receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28131817 NCBI chrNW_004936510:3,779,930...3,806,615
Ensembl chrNW_004936510:3,781,210...3,802,693
JBrowse link
G Creb1 cAMP responsive element binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29179997 NCBI chrNW_004936631:3,721,307...3,785,346
Ensembl chrNW_004936631:3,721,313...3,780,892
JBrowse link
G Ctcf CCCTC-binding factor ISO DNA:mutations:multiple (human) RGD PMID:27974201 RGD:151356739 NCBI chrNW_004936475:17,987,137...18,031,733
Ensembl chrNW_004936475:17,987,156...18,031,760
JBrowse link
G Ctnnb1 catenin beta 1 ISO ClinVar Annotator: match by term: Cutaneous melanoma ClinVar PMID:10192393 PMID:25741868 PMID:26619011 NCBI chrNW_004936473:29,999,542...30,034,610
Ensembl chrNW_004936473:29,999,562...30,038,293
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 chrNW_004936837:523,227...538,799
Ensembl chrNW_004936837:523,266...538,833
JBrowse link
G Dnmt3b DNA methyltransferase 3 beta disease_progression ISO RGD PMID:21081840 RGD:9589074 NCBI chrNW_004936485:19,547,836...19,570,716 JBrowse link
G Eml1 EMAP like 1 disease_progression ISO DNA:SNP: :rs10151787 (A>G) RGD PMID:34249459 RGD:597538489 NCBI chrNW_004936604:3,498,413...3,662,188
Ensembl chrNW_004936604:3,498,304...3,662,244
JBrowse link
G Fanca FA complementation group A disease_progression ISO DNA:SNP: :rs62068372 (human) RGD PMID:25243787 RGD:11344896 NCBI chrNW_004936641:281,119...319,796
Ensembl chrNW_004936641:281,073...324,053
JBrowse link
G Fancd2 FA complementation group D2 ISO mRNA,protein:increased expression:skin,nucleus: RGD PMID:21697891 RGD:11046262 NCBI chrNW_004936602:3,162,177...3,220,468
Ensembl chrNW_004936602:3,161,960...3,209,868
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 chrNW_004936689:2,261,163...2,449,951
Ensembl chrNW_004936689:2,259,477...2,344,764
JBrowse link
G Gpx1 glutathione peroxidase 1 ISO mRNA:increased expression:skin of body (human) RGD PMID:29535818 RGD:152023655 NCBI chrNW_004936529:997,943...999,123
Ensembl chrNW_004936529:998,150...998,987
JBrowse link
G Grm1 glutamate metabotropic receptor 1 ISO OMIM:608035 | OMIM:612263 MouseDO NCBI chrNW_004936625:91,229...468,242
Ensembl chrNW_004936625:90,299...466,395
JBrowse link
G Hif1a hypoxia inducible factor 1 subunit alpha ISO protein:increased expression:epidermis (human) RGD PMID:19558170 RGD:8695922 NCBI chrNW_004936495:5,770,988...5,816,157
Ensembl chrNW_004936495:5,770,669...5,816,157
JBrowse link
G Hras HRas proto-oncogene, GTPase 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:1904555 PMID:3510078 PMID:11150980 PMID:12835555 PMID:16155195 More... NCBI chrNW_004936888:375,372...378,125
Ensembl chrNW_004936888:375,377...377,958
JBrowse link
G Icam1 intercellular adhesion molecule 1 disease_progression ISO DNA:missense mutation:exon:p.R241G (human) RGD PMID:16313300 RGD:8547698 NCBI chrNW_004936659:616,570...627,172
Ensembl chrNW_004936659:616,752...627,174
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 chrNW_004936950:334,894...349,221
Ensembl chrNW_004936950:334,934...348,363
JBrowse link
G Jmjd6 jumonji domain containing 6, arginine demethylase and lysine hydroxylase ISO CTD Direct Evidence: marker/mechanism CTD PMID:30619488 NCBI chrNW_004936594:1,760,924...1,771,022
Ensembl chrNW_004936594:1,760,853...1,770,765
JBrowse link
G Lrrc56 leucine rich repeat containing 56 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 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 chrNW_004936888:379,622...397,647
Ensembl chrNW_004936888:382,062...402,083
JBrowse link
G Mc1r melanocortin 1 receptor ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004936641:193,885...198,730 JBrowse link
G Mitf melanocyte inducing transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:22012259 PMID:22080950 NCBI chrNW_004936603:1,682,411...1,858,295
Ensembl chrNW_004936603:1,682,513...1,858,173
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 chrNW_004936551:5,167,909...5,175,149
Ensembl chrNW_004936551:5,168,044...5,174,857
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 chrNW_004936475:7,801,356...7,825,831
Ensembl chrNW_004936475:7,801,277...7,825,851
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 chrNW_004936514:7,038,240...7,045,873
Ensembl chrNW_004936514:7,037,639...7,045,793
JBrowse link
G Naip NLR family apoptosis inhibitory protein exacerbates ISO mRNA:increased expression:zone of skin (human) RGD PMID:31964418 RGD:153344516 NCBI chrNW_004936549:5,000,526...5,069,110 JBrowse link
G Oca2 OCA2 melanosomal transmembrane protein susceptibility ISO DNA:snps:exon, intron:multiple (human)
DNA:snp:cds:p.R419Q (rs1800407) (human)
DNA:missense mutation:cds:p.H615R (rs1800414) (human)
RGD PMID:15889046 PMID:19710684 PMID:24617981 RGD:9491818 RGD:9491829 RGD:9491831 NCBI chrNW_004936471:38,612,450...38,952,150
Ensembl chrNW_004936471:38,612,427...38,952,199
JBrowse link
G Pdcd4 programmed cell death 4 disease_progression ISO mRNA:decreased expression:skin (human) RGD PMID:26150475 RGD:11342032 NCBI chrNW_004936486:1,684,167...1,705,387
Ensembl chrNW_004936486:1,684,135...1,705,715
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 chrNW_004936566:3,924,013...3,951,052
Ensembl chrNW_004936566:3,923,934...3,951,073
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 chrNW_004936605:836,824...919,099
Ensembl chrNW_004936605:836,769...920,201
JBrowse link
G Pten phosphatase and tensin homolog ISO ClinVar Annotator: match by term: DYSPLASTIC NEVUS SYNDROME, HEREDITARY
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 chrNW_004936735:1,252,414...1,338,318
Ensembl chrNW_004936735:1,252,414...1,338,323
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 chrNW_004936518:7,094,949...7,139,961
Ensembl chrNW_004936518:7,095,038...7,137,277
JBrowse link
G Stat3 signal transducer and activator of transcription 3 disease_progression ISO RGD PMID:21876460 RGD:8694297 NCBI chrNW_004936490:17,119,189...17,178,402
Ensembl chrNW_004936490:17,117,290...17,178,402
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 chrNW_004936588:579,816...601,033
Ensembl chrNW_004936588:579,816...603,654
JBrowse link
G Tert telomerase reverse transcriptase ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004936815:468,987...492,666
Ensembl chrNW_004936815:469,020...491,697
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 chrNW_004936595:919,807...935,367
Ensembl chrNW_004936595:919,428...925,425
JBrowse link
G Tp73 tumor protein p73 ISO mRNA:increased expression:skin of body (human) RGD PMID:30420492 RGD:151347580 NCBI chrNW_004936737:171,894...211,464
Ensembl chrNW_004936737:172,467...211,464
JBrowse link
G Tyr tyrosinase susceptibility ISO DNA:missense mutation:cds:p.R402Q(human) RGD PMID:21906913 RGD:8694390 NCBI chrNW_004936736:421,623...519,085
Ensembl chrNW_004936736:421,598...519,253
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 chrNW_004936512:5,741,836...5,800,999
Ensembl chrNW_004936512:5,740,748...5,801,109
JBrowse link
G Xrcc3 X-ray repair cross complementing 3 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004936621:1,462,441...1,474,937
Ensembl chrNW_004936621:1,462,428...1,473,868
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 chrNW_004936475:17,987,137...18,031,733
Ensembl chrNW_004936475:17,987,156...18,031,760
JBrowse link
G Ddx5 DEAD-box helicase 5 ISO protein:increased expression:foreskin (human) RGD PMID:22548649 RGD:9850272 NCBI chrNW_004936541:5,005,211...5,013,439
Ensembl chrNW_004936541:5,004,692...5,013,350
JBrowse link
G Fat1 FAT atypical cadherin 1 disease_progression ISO associated with Neoplasm Metastasis RGD PMID:33328637 RGD:151347447 NCBI chrNW_004936554:2,872,729...2,996,821
Ensembl chrNW_004936554:2,872,713...2,996,823
JBrowse link
G Fgf10 fibroblast growth factor 10 ISO Pten conditional KO mouse RGD PMID:24582960 RGD:126928134 NCBI chrNW_004936480:18,114,231...18,195,884
Ensembl chrNW_004936480:18,114,204...18,195,898
JBrowse link
G Fyn FYN proto-oncogene, Src family tyrosine kinase ISO MouseDO NCBI chrNW_004936679:388,500...588,518
Ensembl chrNW_004936679:387,387...443,880
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 chrNW_004936471:3,838,507...3,849,521
Ensembl chrNW_004936471:3,838,612...3,848,751
JBrowse link
G Pten phosphatase and tensin homolog ameliorates ISO RGD PMID:24582960 RGD:126928134 NCBI chrNW_004936735:1,252,414...1,338,318
Ensembl chrNW_004936735:1,252,414...1,338,323
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14638
    disease of anatomical entity 14327
      integumentary system disease 3922
        integumentary system cancer 246
          skin cancer 246
            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 + 171
            skin glomus tumor 0
            skin melanoma + 80
            skin meningioma 0
            skin sarcoma + 0
            sweat gland cancer + 3
Path 2
Term Annotations click to browse term
  disease 14638
    Pathological Conditions, Signs and Symptoms 11556
      Signs and Symptoms 9735
        Neurologic Manifestations 9422
          sensory system disease 6687
            skin disease 3922
              Skin Neoplasms 471
                skin cancer 246
                  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 + 171
                  skin glomus tumor 0
                  skin melanoma + 80
                  skin meningioma 0
                  skin sarcoma + 0
                  sweat gland cancer + 3
paths to the root