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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 chr14:76,205,238...76,234,646
Ensembl chr14:76,205,232...76,234,631
JBrowse link
G CHUK component of inhibitor of nuclear factor kappa B kinase complex ISO RGD PMID:21755017 RGD:13504775 NCBI chr14:111,316,178...111,351,669
Ensembl chr14:111,315,141...111,351,868
JBrowse link
G CRKL CRK like proto-oncogene, adaptor protein ISO RGD PMID:16391854 RGD:7488899 NCBI chr14:50,528,950...50,558,664
Ensembl chr14:50,528,955...50,558,662
JBrowse link
G PML PML nuclear body scaffold severity ISO human gene in a mouse model RGD PMID:19058256 RGD:41404688 NCBI chr 7:59,405,044...59,450,155
Ensembl chr 7:59,405,053...59,450,105
JBrowse link
G SNAI1 snail family transcriptional repressor 1 ISO MouseDO NCBI chr17:51,546,446...51,552,498
Ensembl chr17:51,546,477...51,552,499
JBrowse link
G SRSF6 serine and arginine rich splicing factor 6 ISO protein:increased expression:skin (human) RGD PMID:24440982 RGD:11039481 NCBI chr17:46,119,612...46,122,540
Ensembl chr17:46,119,409...46,125,126
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 chr13:158,013,704...158,291,093
Ensembl chr13:158,013,726...158,291,103
JBrowse link
G ACAA2 acetyl-CoA acyltransferase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 1:99,284,467...99,310,759
Ensembl chr 1:99,284,140...99,311,321
JBrowse link
G ACADL acyl-CoA dehydrogenase long chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr15:112,935,631...112,969,381
Ensembl chr15:112,933,506...112,969,577
JBrowse link
G ADAM23 ADAM metallopeptidase domain 23 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr15:109,695,250...109,886,154
Ensembl chr15:109,695,282...109,886,148
JBrowse link
G ALCAM activated leukocyte cell adhesion molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr13:153,794,991...153,998,241
Ensembl chr13:153,794,993...153,998,208
JBrowse link
G ALYREF Aly/REF export factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr12:1,099,239...1,103,058
Ensembl chr12:1,092,329...1,103,054
JBrowse link
G ARID5B AT-rich interaction domain 5B ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr14:65,408,603...65,598,485
Ensembl chr14:65,408,598...65,598,485
JBrowse link
G ARPC1B actin related protein 2/3 complex subunit 1B ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 3:6,329,737...6,342,641
Ensembl chr 3:6,220,939...6,342,637
JBrowse link
G ASIP agouti signaling protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:18488027 NCBI chr17:37,542,615...37,718,787
Ensembl chr17:37,545,474...37,718,779
JBrowse link
G ATF2 activating transcription factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr15:80,984,969...81,076,573
Ensembl chr15:80,985,126...81,081,014
JBrowse link
G ATP5PB ATP synthase peripheral stalk-membrane subunit b ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 4:108,896,063...108,907,626
Ensembl chr 4:108,896,057...108,907,805
JBrowse link
G BAP1 BRCA1 associated deubiquitinase 1 ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:25080371 PMID:26719535 RGD:9586038 NCBI chr13:34,544,570...34,553,538
Ensembl chr13:34,544,581...34,553,483
JBrowse link
G BASP1 brain abundant membrane attached signal protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr16:6,384,322...6,440,507 JBrowse link
G BNC2 basonuclin zinc finger protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 1:205,925,079...206,380,911
Ensembl chr 1:205,925,091...206,372,121
JBrowse link
G C1QA complement C1q A chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 6:80,586,259...80,589,213
Ensembl chr 6:80,586,280...80,589,204
JBrowse link
G C1QTNF1 C1q and TNF related 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr12:3,161,355...3,181,470
Ensembl chr12:3,161,360...3,170,076
JBrowse link
G CAV1 caveolin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr18:29,648,120...29,682,451
Ensembl chr18:29,649,992...29,682,465
JBrowse link
G CCDC152 coiled-coil domain containing 152 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr16:27,474,697...27,538,361
Ensembl chr16:27,471,003...27,538,665
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 2:94,980,938...95,019,053
Ensembl chr 2:94,980,941...95,018,634
JBrowse link
G CHCHD7 coiled-coil-helix-coiled-coil-helix domain containing 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 4:75,640,679...75,646,218 JBrowse link
G CHD3 chromodomain helicase DNA binding protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr12:53,135,767...53,163,244
Ensembl chr12:53,139,366...53,163,243
JBrowse link
G CHGA chromogranin A ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 7:114,345,542...114,357,799
Ensembl chr 7:114,345,305...114,358,075
JBrowse link
G CLPTM1L CLPTM1 like ISO CTD Direct Evidence: marker/mechanism CTD PMID:19151717 NCBI chr16:79,237,000...79,248,503
Ensembl chr16:79,237,061...79,248,500
JBrowse link
G COA7 cytochrome c oxidase assembly factor 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 6:159,511,862...159,528,982
Ensembl chr 6:159,511,860...159,528,049
JBrowse link
G CREB5 cAMP responsive element binding protein 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr18:43,840,553...44,264,514
Ensembl chr18:43,844,942...44,261,031
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 chr17:28,079,541...28,111,871
Ensembl chr17:28,077,707...28,111,558
JBrowse link
G CSPG4 chondroitin sulfate proteoglycan 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 7:57,949,182...57,988,602
Ensembl chr 7:57,949,455...57,988,335
JBrowse link
G CTCF CCCTC-binding factor ISO DNA:mutations:multiple (human) RGD PMID:27974201 RGD:151356739 NCBI chr 6:28,188,002...28,261,009
Ensembl chr 6:28,195,647...28,261,009
JBrowse link
G CTLA4 cytotoxic T-lymphocyte associated protein 4 susceptibility ISO DNA:SNP: :rs3087243(human) RGD PMID:19622768 RGD:7411686 NCBI chr15:107,283,081...107,288,041
Ensembl chr15:107,282,927...107,289,103
JBrowse link
G DCLRE1A DNA cross-link repair 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr14:124,144,272...124,162,379
Ensembl chr14:124,144,273...124,162,102
JBrowse link
G DCP1B decapping mRNA 1B ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 5:68,922,086...68,976,280
Ensembl chr 5:68,923,903...68,975,957
JBrowse link
G DHX15 DEAH-box helicase 15 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 8:18,563,808...18,620,892
Ensembl chr 8:18,563,807...18,620,909
JBrowse link
G DIO2 iodothyronine deiodinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 7:103,096,414...103,110,749
Ensembl chr 7:103,096,433...103,323,258
JBrowse link
G DSC2 desmocollin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 6:114,982,259...115,021,332
Ensembl chr 6:114,980,601...115,021,305
JBrowse link
G DUSP10 dual specificity phosphatase 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr10:10,866,446...10,905,852
Ensembl chr10:10,866,448...10,905,857
JBrowse link
G EDN1 endothelin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 7:8,752,018...8,758,354
Ensembl chr 7:8,751,695...8,758,348
JBrowse link
G ELK3 ETS transcription factor ELK3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 5:87,285,237...87,355,201
Ensembl chr 5:87,285,238...87,354,208
JBrowse link
G ERBB2 erb-b2 receptor tyrosine kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26950094 NCBI chr12:22,591,621...22,621,384
Ensembl chr12:22,590,725...22,621,351
JBrowse link
G FAM234A family with sequence similarity 234 member A ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 3:41,411,786...41,437,249
Ensembl chr 3:41,410,818...41,437,203
JBrowse link
G FARP1 FERM, ARH/RhoGEF and pleckstrin domain protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr11:67,144,622...67,457,547
Ensembl chr11:67,144,645...67,457,548
JBrowse link
G FBN3 fibrillin 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 2:71,102,033...71,174,475
Ensembl chr 2:71,102,054...71,174,357
JBrowse link
G FBXW7 F-box and WD repeat domain containing 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26950094 NCBI chr 8:76,482,027...76,699,354
Ensembl chr 8:76,482,844...76,699,348
JBrowse link
G FMO2 flavin containing dimethylaniline monoxygenase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 9:63,812,016...63,857,608
Ensembl chr 9:63,812,492...63,852,085
JBrowse link
G FNBP1L formin binding protein 1 like ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 4:123,675,062...123,779,645
Ensembl chr 4:123,675,065...123,779,630
JBrowse link
G FSCN1 fascin actin-bundling protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 3:4,134,173...4,143,275
Ensembl chr 3:4,134,177...4,143,286
JBrowse link
G GALNT15 polypeptide N-acetylgalactosaminyltransferase 15 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr13:3,329,824...3,371,094
Ensembl chr13:3,330,023...3,371,091
JBrowse link
G GJB6 gap junction protein beta 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr11:793,276...800,109
Ensembl chr11:793,280...800,046
JBrowse link
G GLI2 GLI family zinc finger 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10700170 PMID:36428691 NCBI chr15:30,312,528...30,580,272
Ensembl chr15:30,313,817...30,579,306
JBrowse link
G GPX8 glutathione peroxidase 8 (putative) ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr16:34,336,154...34,341,861
Ensembl chr16:34,336,073...34,342,403
JBrowse link
G GRM5 glutamate metabotropic receptor 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 9:21,914,422...22,438,200
Ensembl chr 9:21,917,735...22,436,063
JBrowse link
G GTF2I general transcription factor IIi ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 3:11,656,928...11,811,426
Ensembl chr 3:11,671,575...11,811,423
JBrowse link
G HHIP hedgehog interacting protein treatment ISO mRNA:increased expression:skin: RGD PMID:15024045 RGD:11552592 NCBI chr 8:83,583,735...83,678,368
Ensembl chr 8:83,583,739...83,679,136
JBrowse link
G IFT88 intraflagellar transport 88 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr11:943,444...1,025,617
Ensembl chr11:943,469...1,025,613
JBrowse link
G IGF2BP1 insulin like growth factor 2 mRNA binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr12:25,196,955...25,244,660
Ensembl chr12:25,197,058...25,243,272
JBrowse link
G IGF2BP2 insulin like growth factor 2 mRNA binding protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr13:123,485,619...123,650,050
Ensembl chr13:123,485,628...123,650,039
JBrowse link
G IL6 interleukin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22108589 NCBI chr 9:91,506,421...91,510,830
Ensembl chr 9:91,506,421...91,511,263
JBrowse link
G INPP4A inositol polyphosphate-4-phosphatase type I A ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 3:55,711,025...55,779,579
Ensembl chr 3:55,711,031...55,834,367
JBrowse link
G IRS4 insulin receptor substrate 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr  X:89,204,348...89,221,463
Ensembl chr  X:89,204,355...89,221,085
JBrowse link
G IRX1 iroquois homeobox 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr16:77,695,704...77,701,089
Ensembl chr16:77,695,071...77,701,236
JBrowse link
G JUN Jun proto-oncogene, AP-1 transcription factor subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 6:153,686,425...153,687,635
Ensembl chr 6:153,685,682...153,687,636
JBrowse link
G KRT5 keratin 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19578363 PMID:20871598 NCBI chr 5:17,862,047...17,868,397
Ensembl chr 5:17,862,051...17,868,402
JBrowse link
G LATS1 large tumor suppressor kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26950094 NCBI chr 1:16,274,955...16,320,980
Ensembl chr 1:16,274,970...16,320,604
JBrowse link
G LEF1 lymphoid enhancer binding factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 8:113,824,511...113,944,078
Ensembl chr 8:113,825,161...113,944,070
JBrowse link
G LGR5 leucine rich repeat containing G protein-coupled receptor 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 5:35,463,257...35,595,234
Ensembl chr 5:35,463,279...35,595,930
JBrowse link
G LITAF lipopolysaccharide induced TNF factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 3:31,482,605...31,576,211
Ensembl chr 3:31,482,353...31,579,082
JBrowse link
G LMAN1 lectin, mannose binding 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 1:161,607,122...161,631,650
Ensembl chr 1:161,607,143...161,631,651
JBrowse link
G LOC100518575 cytochrome c oxidase assembly factor 3 homolog, mitochondrial ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr12:20,062,831...20,063,984
Ensembl chr12:20,062,826...20,063,980
JBrowse link
G LOC100737030 keratin, type I cytoskeletal 42 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20871598 PMID:36428691 NCBI chr12:21,014,182...21,022,123 JBrowse link
G LPL lipoprotein lipase ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr14:4,104,761...4,134,964
Ensembl chr14:4,104,772...4,135,814
JBrowse link
G LRIG3 leucine rich repeats and immunoglobulin like domains 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 5:24,066,611...24,117,971
Ensembl chr 5:24,066,623...24,117,970
JBrowse link
G LRRCC1 leucine rich repeat and coiled-coil centrosomal protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 4:51,525,044...51,570,609
Ensembl chr 4:51,525,047...51,570,425
JBrowse link
G LTBP1 latent transforming growth factor beta binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 3:106,300,748...106,724,538
Ensembl chr 3:106,300,750...106,724,737
JBrowse link
G MARCKSL1 MARCKS like 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 6:88,785,412...88,787,772
Ensembl chr 6:88,785,403...88,787,771
JBrowse link
G MC1R melanocortin 1 receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539553 NCBI chr 6:181,225...182,187
Ensembl chr 6:181,225...182,187
JBrowse link
G MEX3A mex-3 RNA binding family member A ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 4:93,949,876...93,957,797
Ensembl chr 4:93,949,459...93,955,640
JBrowse link
G MGAT5 alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr15:17,544,806...17,919,273
Ensembl chr15:17,544,806...17,918,555
JBrowse link
G MMP11 matrix metallopeptidase 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr14:49,907,684...49,917,494
Ensembl chr14:49,907,687...49,912,617
JBrowse link
G MPPED1 metallophosphoesterase domain containing 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 5:5,417,939...5,496,494
Ensembl chr 5:5,417,833...5,486,726
JBrowse link
G MYCN MYCN proto-oncogene, bHLH transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:26950094 NCBI chr 3:121,543,201...121,549,678
Ensembl chr 3:121,543,109...121,549,046
JBrowse link
G MYH9 myosin heavy chain 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 5:11,365,603...11,456,475
Ensembl chr 5:11,360,660...11,456,472
JBrowse link
G NNMT nicotinamide N-methyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 9:41,871,072...41,882,415
Ensembl chr 9:41,870,980...41,882,756
JBrowse link
G NUDCD1 NudC domain containing 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 4:28,203,716...28,319,944
Ensembl chr 4:28,203,743...28,331,531
JBrowse link
G NXN nucleoredoxin ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr12:46,909,175...47,075,435
Ensembl chr12:46,904,407...47,075,432
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 chr15:56,657,648...56,869,920
Ensembl chr15:56,657,616...56,869,918
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 chr13:66,038,669...66,045,478 JBrowse link
G OSCP1 organic solute carrier partner 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 6:92,501,124...92,537,526
Ensembl chr 6:92,501,132...92,537,508
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 3:22,586,881...22,612,837
Ensembl chr 3:22,586,856...22,612,834
JBrowse link
G PALM paralemmin ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 2:77,619,199...77,644,561
Ensembl chr 2:77,619,199...77,644,673
JBrowse link
G PELI2 pellino E3 ubiquitin protein ligase family member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 1:185,397,807...185,604,160
Ensembl chr 1:185,397,812...185,599,780
JBrowse link
G PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:26950094 NCBI chr13:117,193,935...117,282,151
Ensembl chr13:117,180,544...117,274,587
JBrowse link
G PLAG1 PLAG1 zinc finger ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 4:75,646,585...75,696,718
Ensembl chr 4:75,646,584...75,694,117
JBrowse link
G PNMA1 PNMA family member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 7:97,049,150...97,051,857
Ensembl chr 7:97,047,284...97,051,806
JBrowse link
G PPP6C protein phosphatase 6 catalytic subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:26950094 NCBI chr 1:265,872,961...265,898,146
Ensembl chr 1:265,870,477...265,898,124
JBrowse link
G PROCR protein C receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr17:38,532,530...38,537,397
Ensembl chr17:38,532,763...38,537,394
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 | 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 chr10:26,627,165...26,703,225
Ensembl chr10:26,627,425...26,703,223
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 chr 6:166,491,649...166,513,137
Ensembl chr 6:166,495,763...166,512,648
JBrowse link
G PTPN14 protein tyrosine phosphatase non-receptor type 14 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26950094 NCBI chr 9:129,114,668...129,248,898
Ensembl chr 9:129,055,698...129,248,578
JBrowse link
G PYCR2 pyrroline-5-carboxylate reductase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr10:13,841,755...13,845,900
Ensembl chr10:13,838,085...13,845,894
JBrowse link
G RAB28 RAB28, member RAS oncogene family ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 8:8,870,795...9,125,253
Ensembl chr 8:8,774,790...9,125,240
JBrowse link
G RAC3 Rac family small GTPase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr12:981,072...984,222
Ensembl chr12:981,074...984,227
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: PTCH2-related condition | ClinVar Annotator: match by term: RASA1-related condition OMIM
ClinVar
PMID:8275088 PMID:9219684 PMID:15574420 PMID:18363760 PMID:18446851 More... NCBI chr 2:94,879,615...94,992,725
Ensembl chr 2:94,878,911...94,993,450
JBrowse link
G RB1 RB transcriptional corepressor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26950094 NCBI chr11:19,186,754...19,317,642
Ensembl chr11:19,186,761...19,317,690
JBrowse link
G RBP1 retinol binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr13:80,380,958...80,407,328
Ensembl chr13:80,380,962...80,407,458
JBrowse link
G RGCC regulator of cell cycle ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr11:25,481,845...25,496,548
Ensembl chr11:25,478,879...25,496,519
JBrowse link
G ROCK1 Rho associated coiled-coil containing protein kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 6:106,163,899...106,314,998
Ensembl chr 6:106,163,989...106,314,944
JBrowse link
G RPE65 retinoid isomerohydrolase RPE65 ISO mRNA:increased expression:skin (human) RGD PMID:16181461 RGD:9495923 NCBI chr 6:144,206,078...144,229,471
Ensembl chr 6:144,206,078...144,229,467
JBrowse link
G RUNX1T1 RUNX1 partner transcriptional co-repressor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 4:44,600,292...44,745,954
Ensembl chr 4:44,599,760...44,743,418
JBrowse link
G SCAMP5 secretory carrier membrane protein 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 7:58,550,190...58,577,894
Ensembl chr 7:58,550,198...58,559,310
JBrowse link
G SETBP1 SET binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 1:94,295,332...94,666,560
Ensembl chr 1:94,295,851...94,663,017
JBrowse link
G SH3BP4 SH3 domain binding protein 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr15:135,003,501...135,094,801
Ensembl chr15:135,003,511...135,094,797
JBrowse link
G SHH sonic hedgehog signaling molecule ISO DNA, protein:hypermethylation, decreased expression:skin of body RGD PMID:23284750 RGD:12801452 NCBI chr18:2,546,202...2,555,484
Ensembl chr18:2,545,994...2,555,484
JBrowse link
G SHOX2 SHOX homeobox 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr13:97,879,586...97,892,276
Ensembl chr13:97,879,281...97,889,785
JBrowse link
G SLC45A2 solute carrier family 45 member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19578363 NCBI chr16:19,958,315...20,002,198
Ensembl chr16:19,956,366...20,023,289
JBrowse link
G SLC7A2 solute carrier family 7 member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr17:5,191,973...5,271,849
Ensembl chr17:5,192,022...5,271,849
JBrowse link
G SLCO2A1 solute carrier organic anion transporter family member 2A1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr13:75,108,540...75,189,660
Ensembl chr13:75,106,607...75,190,022
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 chr18:19,450,730...19,478,796
Ensembl chr18:19,450,743...19,478,898
JBrowse link
G SOBP sine oculis binding protein homolog ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 1:73,549,778...73,722,689
Ensembl chr 1:73,549,307...73,702,020
JBrowse link
G SOX18 SRY-box transcription factor 18 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr17:62,869,868...62,871,758
Ensembl chr17:62,869,870...62,871,748
JBrowse link
G SOX4 SRY-box transcription factor 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 7:16,886,834...16,895,488
Ensembl chr 7:16,891,319...16,892,752
JBrowse link
G SPON2 spondin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 8:447,176...450,829
Ensembl chr 8:447,180...450,538
JBrowse link
G SRGAP1 SLIT-ROBO Rho GTPase activating protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 5:28,300,955...28,605,122
Ensembl chr 5:28,300,950...28,605,120
JBrowse link
G SSR3 signal sequence receptor subunit 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr13:96,349,782...96,390,190
Ensembl chr13:96,377,138...96,390,112
JBrowse link
G STK19 serine/threonine kinase 19 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26950094 NCBI chr 7:24,060,226...24,067,398
Ensembl chr 7:24,059,452...24,067,384
JBrowse link
G STMN1 stathmin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 6:83,356,404...83,362,546
Ensembl chr 6:83,356,412...83,362,500
JBrowse link
G SUFU SUFU negative regulator of hedgehog signaling ISO CTD Direct Evidence: marker/mechanism CTD PMID:26950094 NCBI chr14:113,500,001...113,628,064
Ensembl chr14:113,500,842...113,626,003
JBrowse link
G SYNJ1 synaptojanin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr13:196,230,101...196,330,512
Ensembl chr13:196,230,104...196,330,384
JBrowse link
G TBX1 T-box transcription factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr14:51,289,376...51,297,110
Ensembl chr14:51,289,321...51,296,725
JBrowse link
G TERT telomerase reverse transcriptase ISO CTD Direct Evidence: marker/mechanism CTD PMID:19151717 NCBI chr16:79,258,591...79,276,421
Ensembl chr16:79,258,591...79,276,421
JBrowse link
G TGFB2 transforming growth factor beta 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr10:8,306,136...8,435,307
Ensembl chr10:8,305,539...8,390,341
JBrowse link
G TGS1 trimethylguanosine synthase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 4:75,937,489...75,969,152
Ensembl chr 4:75,937,129...75,969,157
JBrowse link
G TM4SF1 transmembrane 4 L six family member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr13:89,591,105...89,600,060
Ensembl chr13:89,591,106...89,600,027
JBrowse link
G TMCO3 transmembrane and coiled-coil domains 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr11:78,709,010...78,753,431
Ensembl chr11:78,709,062...78,743,063
JBrowse link
G TMEM104 transmembrane protein 104 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr12:6,405,302...6,459,579
Ensembl chr12:6,403,492...6,459,532
JBrowse link
G TMEM170A transmembrane protein 170A ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 6:12,195,123...12,215,753
Ensembl chr 6:12,195,137...12,215,744
JBrowse link
G TMEM176B transmembrane protein 176B ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr18:6,334,420...6,348,887
Ensembl chr18:6,342,611...6,348,867
JBrowse link
G TMEM19 transmembrane protein 19 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 5:35,691,997...35,717,916
Ensembl chr 5:35,692,309...35,719,346
JBrowse link
G TMEM217 transmembrane protein 217 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 7:32,824,780...32,839,115
Ensembl chr 7:32,825,268...32,825,846
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 chr12:52,939,643...52,953,786
Ensembl chr12:52,939,644...52,953,818
JBrowse link
G TRIL TLR4 interactor with leucine rich repeats ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr18:43,725,910...43,833,993 JBrowse link
G TUBA1A tubulin alpha 1a ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 5:15,186,059...15,190,211
Ensembl chr 5:15,185,532...15,190,428
JBrowse link
G TYR tyrosinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:18488027 NCBI chr 9:22,517,047...22,604,290
Ensembl chr 9:22,517,047...22,604,290
JBrowse link
G UBAC2 UBA domain containing 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr11:68,144,835...68,319,771
Ensembl chr11:68,145,101...68,319,939
JBrowse link
G UST uronyl 2-sulfotransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 1:16,840,422...17,138,088
Ensembl chr 1:16,840,533...17,138,392
JBrowse link
G VASH2 vasohibin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 9:130,473,854...130,511,307
Ensembl chr 9:130,473,857...130,511,246
JBrowse link
G VCAN versican ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 2:91,682,177...91,811,674
Ensembl chr 2:91,384,391...91,811,208
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 chr 5:78,205,807...78,266,505
Ensembl chr 5:78,205,810...78,266,475
JBrowse link
G VPS37D VPS37D subunit of ESCRT-I ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 3:10,947,403...10,951,271
Ensembl chr 3:10,947,403...10,951,273
JBrowse link
G XPA XPA, DNA damage recognition and repair factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:17687452 NCBI chr 1:239,532,331...239,568,589
Ensembl chr 1:239,532,272...239,568,570
JBrowse link
G XRCC3 X-ray repair cross complementing 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16501254
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 chr15:118,354,943...118,451,974
Ensembl chr15:118,354,796...118,451,960
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 chr 5:6,903,496...6,929,162
Ensembl chr 5:6,903,495...6,929,052
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 chr10:26,627,165...26,703,225
Ensembl chr10:26,627,425...26,703,223
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 chr13:117,193,935...117,282,151
Ensembl chr13:117,180,544...117,274,587
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 chr 5:15,049,827...15,091,622 JBrowse link
G MRE11 MRE11 homolog, double strand break repair nuclease ISO ClinVar Annotator: match by term: Eccrine porocarcinoma ClinVar NCBI chr 9:26,572,352...26,634,596
Ensembl chr 9:26,572,361...26,634,567
JBrowse link
G TBX3 T-box transcription factor 3 ISO ClinVar Annotator: match by term: Eccrine porocarcinoma ClinVar NCBI chr14:37,582,704...37,596,767
Ensembl chr14:37,582,822...37,596,766
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 chr 5:23,015,777...23,035,943
Ensembl chr 5:23,017,176...23,033,517
JBrowse link
G ARHGAP9 Rho GTPase activating protein 9 ISO ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:28492532 NCBI chr 5:22,747,346...22,762,179
Ensembl chr 5:22,747,339...22,762,049
JBrowse link
G ARHGEF25 Rho guanine nucleotide exchange factor 25 ISO ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:28492532 NCBI chr 5:22,873,502...22,880,830
Ensembl chr 5:22,873,736...22,880,827
JBrowse link
G B4GALNT1 beta-1,4-N-acetyl-galactosaminyltransferase 1 ISO ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:28492532 NCBI chr 5:22,889,654...22,897,386
Ensembl chr 5:22,889,656...22,897,508
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 chr13:34,544,570...34,553,538
Ensembl chr13:34,544,581...34,553,483
JBrowse link
G BRAF B-Raf proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 1
ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 1 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10
ClinVar
OMIM
PMID:2500657 PMID:16439621 PMID:16474404 PMID:17366577 PMID:17551924 More... NCBI chr18:8,957,963...9,132,558
Ensembl chr18:8,957,991...9,132,553
JBrowse link
G CDK4 cyclin dependent kinase 4 ISO ClinVar Annotator: match by term: Cutaneous Malignant Melanoma, Dominant | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 1 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5
ClinVar Annotator: match by term: Cutaneous Malignant Melanoma, Dominant | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: MELANOMA AND RENAL CELL CARCINOMA, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3
ClinVar Annotator: match by term: Cutaneous Malignant Melanoma, Dominant | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Hereditary cutaneous melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5
ClinVar Annotator: match by term: Cutaneous Malignant Melanoma, Dominant | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 2 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3
ClinVar Annotator: match by term: Cutaneous Malignant Melanoma, Dominant | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3
ClinVar Annotator: match by term: Cutaneous Malignant Melanoma, Dominant | ClinVar Annotator: match by term: Cutaneous malignant melanoma 5 | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5
ClinVar Annotator: match by term: Cutaneous Malignant Melanoma, Dominant | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 2 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5
ClinVar Annotator: match by term: Cutaneous Malignant Melanoma, Dominant | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5
OMIM
ClinVar
PMID:5377176 PMID:7652577 PMID:8528263 PMID:8968104 PMID:9228064 More... NCBI chr 5:23,039,206...23,041,959
Ensembl chr 5:23,038,891...23,042,061
JBrowse link
G CDKN2A cyclin dependent kinase inhibitor 2A ISO ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 1 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 2 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5
ClinVar Annotator: match by term: Cutaneous malignant melanoma 6 | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Hereditary cutaneous melanoma | ClinVar Annotator: match by term: MELANOMA AND RENAL CELL CARCINOMA, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 2 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3
ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Hereditary cutaneous melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 1 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 2
ClinVar Annotator: match by term: Cutaneous malignant melanoma 9 | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Hereditary cutaneous melanoma | ClinVar Annotator: match by term: MELANOMA AND RENAL CELL CARCINOMA, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 1 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 2 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 9
ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Hereditary cutaneous melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 2 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5
ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Hereditary cutaneous melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 1 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 2 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5
ClinVar Annotator: match by term: Cutaneous Malignant Melanoma, Dominant | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Hereditary cutaneous melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 2
ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Hereditary cutaneous melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 2 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5
ClinVar Annotator: match by term: Cutaneous malignant melanoma 5 | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Hereditary cutaneous melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 2 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5
ClinVar Annotator: match by term: Cutaneous Malignant Melanoma, Dominant | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Hereditary cutaneous melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 2 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5
OMIM
ClinVar
PMID:539244 PMID:649266 PMID:865368 PMID:1038976 PMID:2319082 More... NCBI chr 1:200,774,496...200,799,149
Ensembl chr 1:200,792,469...200,798,854
JBrowse link
G CDKN2B cyclin dependent kinase inhibitor 2B ISO ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:9622062 PMID:28492532 NCBI chr 1:200,666,250...200,770,880
Ensembl chr 1:200,761,004...200,766,056
JBrowse link
G CYP27B1 cytochrome P450 family 27 subfamily B member 1 ISO ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:28492532 NCBI chr 5:23,053,129...23,058,865
Ensembl chr 5:23,053,892...23,058,470
JBrowse link
G DCTN2 dynactin subunit 2 ISO ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:28492532 NCBI chr 5:22,799,286...22,814,358
Ensembl chr 5:22,799,287...22,814,362
JBrowse link
G DDIT3 DNA damage inducible transcript 3 ISO ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:28492532 NCBI chr 5:22,785,441...22,789,867
Ensembl chr 5:22,785,445...22,789,829
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 chr13:34,455,154...34,544,147
Ensembl chr13:34,445,498...34,544,148
JBrowse link
G DTX3 deltex E3 ubiquitin ligase 3 ISO ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:28492532 NCBI chr 5:22,867,691...22,873,413
Ensembl chr 5:22,867,711...22,873,393
JBrowse link
G EEF1AKMT3 EEF1A lysine methyltransferase 3 ISO ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:28492532 NCBI chr 5:23,063,114...23,087,009
Ensembl chr 5:23,063,109...23,072,849
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 6:253,207...300,159
Ensembl chr 6:253,207...300,152
JBrowse link
G GLI1 GLI family zinc finger 1 ISO ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:28492532 NCBI chr 5:22,736,325...22,747,421
Ensembl chr 5:22,739,900...22,747,421
JBrowse link
G INHBC inhibin subunit beta C ISO ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:28492532 NCBI chr 5:22,718,416...22,728,766
Ensembl chr 5:22,718,491...22,730,087
JBrowse link
G INHBE inhibin subunit beta E ISO ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:28492532 NCBI chr 5:22,732,774...22,734,716
Ensembl chr 5:22,732,516...22,734,083
JBrowse link
G KIF5A kinesin family member 5A ISO ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:28492532 NCBI chr 5:22,813,617...22,851,976
Ensembl chr 5:22,816,854...22,851,973
JBrowse link
G KLC1 kinesin light chain 1 ISO ClinVar Annotator: match by term: Cutaneous malignant melanoma 6 ClinVar PMID:11059748 PMID:28492532
G LRP1 LDL receptor related protein 1 ISO ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:28492532 NCBI chr 5:22,435,636...22,519,276 JBrowse link
G MARCHF9 membrane associated ring-CH-type finger 9 ISO ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:28492532 NCBI chr 5:23,046,471...23,051,046
Ensembl chr 5:23,045,936...23,052,094
JBrowse link
G MARS1 methionyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:28492532 NCBI chr 5:22,752,405...22,785,509
Ensembl chr 5:22,752,374...22,785,501
JBrowse link
G MBD6 methyl-CpG binding domain protein 6 ISO ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:28492532 NCBI chr 5:22,790,220...22,799,131
Ensembl chr 5:22,791,437...22,799,126
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: 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 6:181,225...182,187
Ensembl chr 6:181,225...182,187
JBrowse link
G METTL1 methyltransferase 1, tRNA methylguanosine ISO ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:28492532 NCBI chr 5:23,059,001...23,063,025
Ensembl chr 5:23,058,982...23,062,991
JBrowse link
G MITF melanocyte inducing transcription factor susceptibility ISO ClinVar Annotator: match by term: MELANOMA AND RENAL CELL CARCINOMA, SUSCEPTIBILITY TO
ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: MELANOMA AND RENAL CELL CARCINOMA, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 8
ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: MELANOMA AND RENAL CELL CARCINOMA, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 8
ClinVar Annotator: match by term: MELANOMA AND RENAL CELL CARCINOMA, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 8
ClinVar
OMIM
PMID:2440678 PMID:8589691 PMID:8659547 PMID:9536098 PMID:10587587 More... NCBI chr13:51,177,356...51,422,096
Ensembl chr13:51,178,203...51,422,093
JBrowse link
G NDUFA4L2 NDUFA4 mitochondrial complex associated like 2 ISO ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:28492532 NCBI chr 5:22,540,482...22,548,418
Ensembl chr 5:22,535,740...22,548,882
JBrowse link
G NXPH4 neurexophilin 4 ISO ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 ClinVar PMID:28492532 NCBI chr 5:22,522,932...22,536,614
Ensembl chr 5:22,522,952...22,531,660
JBrowse link
G OS9 OS9 endoplasmic reticulum lectin ISO ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:28492532 NCBI chr 5:22,957,903...23,004,464
Ensembl chr 5:22,957,875...23,004,458
JBrowse link
G PIP4K2C phosphatidylinositol-5-phosphate 4-kinase type 2 gamma ISO ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 ClinVar PMID:28492532 NCBI chr 5:22,854,142...22,867,032
Ensembl chr 5:22,854,316...22,867,028
JBrowse link
G POT1 protection of telomeres 1 ISO ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5
ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: MELANOMA AND RENAL CELL CARCINOMA, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 9 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 1 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 8
ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 1 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5
ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Hereditary cutaneous melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 1 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 8 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 9
ClinVar Annotator: match by term: Cutaneous malignant melanoma 9 | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: MELANOMA AND RENAL CELL CARCINOMA, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 1 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 2 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 8
ClinVar Annotator: match by term: Cutaneous malignant melanoma 5 | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 1 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 2 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 8
ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Hereditary cutaneous melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 1 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5
ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 1 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5
ClinVar Annotator: match by term: Cutaneous Malignant Melanoma, Dominant | ClinVar Annotator: match by term: Cutaneous malignant melanoma 5 | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5
ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 2 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 8
ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5
ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 2 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 6
ClinVar Annotator: match by term: Cutaneous malignant melanoma 5 | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5
ClinVar
OMIM
PMID:9536098 PMID:16199547 PMID:17576681 PMID:19461895 PMID:19763152 More... NCBI chr18:22,885,704...22,981,893
Ensembl chr18:22,885,749...22,981,890
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 chr14:99,929,590...100,021,619 JBrowse link
G R3HDM2 R3H domain containing 2 ISO ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:28492532 NCBI chr 5:22,558,645...22,714,250
Ensembl chr 5:22,549,010...22,719,054
JBrowse link
G SHMT2 serine hydroxymethyltransferase 2 ISO ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:28492532 NCBI chr 5:22,535,780...22,540,322
Ensembl chr 5:22,532,894...22,540,319
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 6:211,480...246,109
Ensembl chr 6:211,487...243,561
JBrowse link
G STAC3 SH3 and cysteine rich domain 3 ISO ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:28492532 NCBI chr 5:22,549,008...22,556,330
Ensembl chr 5:22,549,010...22,719,054
JBrowse link
G STK11 serine/threonine kinase 11 ISO ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 1 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10
ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 1 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3
ClinVar
OMIM
PMID:9536098 PMID:9887330 PMID:10201537 PMID:10208439 PMID:10676634 More... NCBI chr 2:77,229,888...77,249,322
Ensembl chr 2:77,230,372...77,249,327
JBrowse link
G TCF25 transcription factor 25 ISO ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 ClinVar PMID:28492532 NCBI chr 6:186,068...208,841
Ensembl chr 6:183,451...208,903
JBrowse link
G TERT telomerase reverse transcriptase ISO 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 chr16:79,258,591...79,276,421
Ensembl chr16:79,258,591...79,276,421
JBrowse link
G TP53 tumor protein p53 ISO ClinVar Annotator: match by term: 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 chr12:52,939,643...52,953,786
Ensembl chr12:52,939,644...52,953,818
JBrowse link
G TSFM Ts translation elongation factor, mitochondrial ISO ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:28492532 NCBI chr 5:23,073,087...23,087,029
Ensembl chr 5:23,072,808...23,097,915
JBrowse link
G TSPAN31 tetraspanin 31 ISO ClinVar Annotator: match by term: Cutaneous Malignant Melanoma, Dominant | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5
ClinVar Annotator: match by term: Cutaneous Malignant Melanoma, Dominant | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: MELANOMA AND RENAL CELL CARCINOMA, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3
ClinVar Annotator: match by term: Cutaneous Malignant Melanoma, Dominant | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3
ClinVar Annotator: match by term: Cutaneous Malignant Melanoma, Dominant | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5
ClinVar PMID:9536098 PMID:17576681 PMID:20668451 PMID:21520333 PMID:23718828 More... NCBI chr 5:23,029,325...23,038,987
Ensembl chr 5:23,029,306...23,038,977
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 chr 9:22,517,047...22,604,290
Ensembl chr 9:22,517,047...22,604,290
JBrowse link
G XRCC3 X-ray repair cross complementing 3 ISO ClinVar Annotator: match by term: Cutaneous malignant melanoma 6 ClinVar
OMIM
PMID:11059748 PMID:28492532
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 chr 1:240,842,735...240,918,267
Ensembl chr 1:240,860,156...240,918,528
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
G NOTCH2 notch receptor 2 ISO ClinVar Annotator: match by term: Keratoacanthoma ClinVar PMID:27283355 NCBI chr 4:100,951,522...101,152,348
Ensembl chr 4:100,981,636...101,150,195
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 chr13:117,193,935...117,282,151
Ensembl chr13:117,180,544...117,274,587
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 chr12:52,874,754...52,877,256
Ensembl chr12:52,874,785...52,877,695
JBrowse link
G FGFR3 fibroblast growth factor receptor 3 ISO mRNA:decreased expression:skin (human) RGD PMID:28359267 RGD:38500206 NCBI chr 8:879,151...894,968
Ensembl chr 8:879,159...894,964
JBrowse link
G MYC MYC proto-oncogene, bHLH transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:25277525 NCBI chr 4:12,455,141...12,460,360
Ensembl chr 4:12,455,122...12,461,078
JBrowse link
G SPA17 sperm autoantigenic protein 17 ISO mRNA,protein:increased expression:nucleus RGD PMID:31218705 RGD:27226803 NCBI chr 9:51,918,916...51,931,459
Ensembl chr 9:51,918,916...51,931,759
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 2:94,980,938...95,019,053
Ensembl chr 2:94,980,941...95,018,634
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 chr10:26,627,165...26,703,225
Ensembl chr10:26,627,425...26,703,223
JBrowse link
G PTCH2 patched 2 ISO ClinVar Annotator: match by term: Basal cell carcinoma, multiple ClinVar PMID:25741868 PMID:28492532 PMID:31945512 NCBI chr 6:166,491,649...166,513,137
Ensembl chr 6:166,495,763...166,512,648
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 2:94,879,615...94,992,725
Ensembl chr 2:94,878,911...94,993,450
JBrowse link
G SMO smoothened, frizzled class receptor ISO ClinVar Annotator: match by term: Basal cell carcinoma, multiple ClinVar PMID:25741868 PMID:28492532 NCBI chr18:19,450,730...19,478,796
Ensembl chr18:19,450,743...19,478,898
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 chr12:51,479,968...51,495,540 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 chr10:27,078,115...27,472,347
Ensembl chr10:27,078,113...27,472,310
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 chr14:113,668,375...113,699,583
Ensembl chr14:113,665,270...113,707,591
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 chr14:113,805,616...113,820,445
Ensembl chr14:113,805,611...113,812,041
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 chr10:26,796,546...27,055,271
Ensembl chr10:26,796,572...27,061,801
JBrowse link
G GLI1 GLI family zinc finger 1 ISO RGD PMID:15308259 RGD:12801443 NCBI chr 5:22,736,325...22,747,421
Ensembl chr 5:22,739,900...22,747,421
JBrowse link
G GLI2 GLI family zinc finger 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16936257 NCBI chr15:30,312,528...30,580,272
Ensembl chr15:30,313,817...30,579,306
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 chr10:26,627,165...26,703,225
Ensembl chr10:26,627,425...26,703,223
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 chr 6:166,491,649...166,513,137
Ensembl chr 6:166,495,763...166,512,648
JBrowse link
G PTH parathyroid hormone ISO CTD Direct Evidence: marker/mechanism CTD PMID:24803734 NCBI chr 2:45,757,398...45,760,433
Ensembl chr 2:45,757,398...45,760,415
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 chr14:113,707,659...113,733,832
Ensembl chr14:113,707,824...113,733,821
JBrowse link
G SHH sonic hedgehog signaling molecule ISO RGD
MouseDO
PMID:9115210 RGD:12802345 NCBI chr18:2,546,202...2,555,484
Ensembl chr18:2,545,994...2,555,484
JBrowse link
G SMO smoothened, frizzled class receptor ISO RGD PMID:15308259 RGD:12801443 NCBI chr18:19,450,730...19,478,796
Ensembl chr18:19,450,743...19,478,898
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 chr14:113,500,001...113,628,064
Ensembl chr14:113,500,842...113,626,003
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 chr14:113,637,437...113,652,577
Ensembl chr14:113,636,832...113,652,372
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 chr14:113,737,758...113,800,564
Ensembl chr14:113,737,763...113,800,555
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 chr10:26,627,165...26,703,225
Ensembl chr10:26,627,425...26,703,223
JBrowse link
G PTCH2 patched 2 ISO ClinVar Annotator: match by term: Basal cell nevus syndrome 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr 6:166,491,649...166,513,137
Ensembl chr 6:166,495,763...166,512,648
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 chr14:113,500,001...113,628,064
Ensembl chr14:113,500,842...113,626,003
JBrowse link
skin melanoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AFF4 ALF transcription elongation factor 4 disease_progression ISO RGD PMID:33417923 RGD:155631266 NCBI chr 2:135,196,067...135,283,931
Ensembl chr 2:135,200,076...135,283,675
JBrowse link
G AGT angiotensinogen ISO protein:increased expression:serum RGD PMID:19394758 RGD:8548874 NCBI chr14:59,643,030...59,656,835
Ensembl chr14:59,643,292...59,656,833
JBrowse link
G ARHGAP44 Rho GTPase activating protein 44 severity ISO DNA:SNP:intron: (rs72635537) (human) RGD PMID:28510328 RGD:401901274 NCBI chr12:57,049,900...57,206,706
Ensembl chr12:57,049,895...57,206,889
JBrowse link
G B2M beta-2-microglobulin ISO ClinVar Annotator: match by term: Cutaneous melanoma | ClinVar Annotator: match by term: Malignant melanoma of skin ClinVar PMID:26619011 NCBI chr 1:126,865,767...126,878,501
Ensembl chr 1:126,864,468...126,871,554
JBrowse link
G BAP1 BRCA1 associated deubiquitinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25231345 PMID:26719535 NCBI chr13:34,544,570...34,553,538
Ensembl chr13:34,544,581...34,553,483
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 chr18:8,957,963...9,132,558
Ensembl chr18:8,957,991...9,132,553
JBrowse link
G BRCA2 BRCA2 DNA repair associated disease_progression ISO DNA:SNP: :rs206118, rs3752447, rs10492396 (human) RGD PMID:25243787 RGD:11344896 NCBI chr11:8,805,950...8,858,128
Ensembl chr11:8,805,913...8,857,793
JBrowse link
G CCL2 chemokine (C-C motif) ligand 2 disease_progression ISO DNA:SNP: :2578A>G (human) RGD PMID:17169533 RGD:9491398 NCBI chr12:40,798,109...40,800,013
Ensembl chr12:40,798,109...40,800,026
JBrowse link
G CD40 CD40 molecule disease_progression ISO RGD PMID:8952530 RGD:8547772 NCBI chr17:48,286,116...48,298,188
Ensembl chr17:48,286,029...48,298,528
JBrowse link
G CDK4 cyclin dependent kinase 4 ISO ClinVar Annotator: match by term: Cutaneous melanoma | ClinVar Annotator: match by term: Malignant melanoma of skin ClinVar PMID:5377176 PMID:7652577 PMID:8528263 PMID:8968104 PMID:9228064 More... NCBI chr 5:23,039,206...23,041,959
Ensembl chr 5:23,038,891...23,042,061
JBrowse link
G CDKN2A cyclin dependent kinase inhibitor 2A ISO ClinVar Annotator: match by term: Cutaneous melanoma | ClinVar Annotator: match by term: Malignant melanoma of skin ClinVar PMID:7777060 PMID:7777061 PMID:7780957 PMID:8521414 PMID:8573142 More... NCBI chr 1:200,774,496...200,799,149
Ensembl chr 1:200,792,469...200,798,854
JBrowse link
G CHAF1B chromatin assembly factor 1 subunit B severity ISO protein:increased expression:skin: RGD PMID:20178651 RGD:9587476 NCBI chr13:200,048,096...200,074,902
Ensembl chr13:200,048,149...200,072,556
JBrowse link
G CNR1 cannabinoid receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28131817 NCBI chr 1:56,466,022...56,493,275
Ensembl chr 1:56,467,835...56,492,602
JBrowse link
G CREB1 cAMP responsive element binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29179997 NCBI chr15:110,705,548...110,773,037
Ensembl chr15:110,705,496...110,771,728
JBrowse link
G CTCF CCCTC-binding factor ISO DNA:mutations:multiple (human) RGD PMID:27974201 RGD:151356739 NCBI chr 6:28,188,002...28,261,009
Ensembl chr 6:28,195,647...28,261,009
JBrowse link
G CTNNB1 catenin beta 1 ISO ClinVar Annotator: match by term: Cutaneous melanoma ClinVar PMID:10192393 PMID:25741868 PMID:26619011 NCBI chr13:25,163,550...25,208,314
Ensembl chr13:25,164,277...25,208,311
JBrowse link
G DDR1 discoidin domain receptor tyrosine kinase 1 severity
treatment
ISO protein:increased expression:skin lesion (human)
human cells in mouse model; DDR1-IN-1
RGD PMID:31271515 RGD:151347864 NCBI chr 7:23,371,358...23,391,585
Ensembl chr 7:23,373,777...23,391,585
JBrowse link
G DNMT3B DNA methyltransferase 3 beta disease_progression ISO RGD PMID:21081840 RGD:9589074 NCBI chr17:36,345,715...36,386,076
Ensembl chr17:36,345,816...36,386,072
JBrowse link
G EML1 EMAP like 1 disease_progression ISO DNA:SNP: :rs10151787 (A>G) RGD PMID:34249459 RGD:597538489 NCBI chr 7:120,703,282...120,890,792
Ensembl chr 7:120,703,258...120,890,791
JBrowse link
G FANCA FA complementation group A disease_progression ISO DNA:SNP: :rs62068372 (human) RGD PMID:25243787 RGD:11344896 NCBI chr 6:253,207...300,159
Ensembl chr 6:253,207...300,152
JBrowse link
G FANCD2 FA complementation group D2 ISO mRNA,protein:increased expression:skin,nucleus: RGD PMID:21697891 RGD:11046262 NCBI chr13:66,241,951...66,308,601
Ensembl chr13:66,241,967...66,310,433
JBrowse link
G FBXW7 F-box and WD repeat domain containing 7 ISO ClinVar Annotator: match by term: Cutaneous melanoma | ClinVar Annotator: match by term: Malignant melanoma of skin ClinVar PMID:25741868 PMID:26619011 NCBI chr 8:76,482,027...76,699,354
Ensembl chr 8:76,482,844...76,699,348
JBrowse link
G GPX1 glutathione peroxidase 1 ISO mRNA:increased expression:skin of body (human) RGD PMID:29535818 RGD:152023655 NCBI chr13:31,916,269...31,917,337
Ensembl chr13:31,916,246...31,917,433
JBrowse link
G GRM1 glutamate metabotropic receptor 1 ISO OMIM:608035 | OMIM:612263 MouseDO NCBI chr 1:19,183,221...19,572,853
Ensembl chr 1:19,183,218...19,572,853
JBrowse link
G HIF1A hypoxia inducible factor 1 subunit alpha ISO protein:increased expression:epidermis (human) RGD PMID:19558170 RGD:8695922 NCBI chr 1:190,625,436...190,673,926
Ensembl chr 1:190,625,244...190,674,845
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 chr 2:299,662...302,539
Ensembl chr 2:299,660...302,501
JBrowse link
G ICAM1 intercellular adhesion molecule 1 disease_progression ISO DNA:missense mutation:exon:p.R241G (human) RGD PMID:16313300 RGD:8547698 NCBI chr 2:69,097,136...69,107,722
Ensembl chr 2:69,097,122...69,108,205
JBrowse link
G IDH1 isocitrate dehydrogenase (NADP(+)) 1 ISO ClinVar Annotator: match by term: Cutaneous melanoma | ClinVar Annotator: match by term: Malignant melanoma of skin ClinVar PMID:18772396 PMID:19657110 PMID:19798509 PMID:19818334 PMID:20946881 More... NCBI chr15:111,341,153...111,362,330
Ensembl chr15:111,341,153...111,362,296
JBrowse link
G JMJD6 jumonji domain containing 6, arginine demethylase and lysine hydroxylase ISO CTD Direct Evidence: marker/mechanism CTD PMID:30619488 NCBI chr12:4,809,014...4,819,853
Ensembl chr12:4,809,118...4,818,043
JBrowse link
G LOC100622859 baculoviral IAP repeat-containing protein 2 exacerbates ISO mRNA:increased expression:zone of skin (human) RGD PMID:31964418 RGD:153344516 NCBI chr 9:33,041,592...33,062,865
Ensembl chr 9:33,041,663...33,062,854
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 chr 2:303,836...323,701
Ensembl chr 2:304,430...323,699
JBrowse link
G MC1R melanocortin 1 receptor ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 6:181,225...182,187
Ensembl chr 6:181,225...182,187
JBrowse link
G MIR21 microRNA mir-21 disease_progression ISO RNA:increased expression:skin (human) RGD PMID:26150475 RGD:11342032 NCBI chr12:36,065,267...36,065,358
Ensembl chr12:36,065,267...36,065,358
JBrowse link
G MITF melanocyte inducing transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:22012259 PMID:22080950 NCBI chr13:51,177,356...51,422,096
Ensembl chr13:51,178,203...51,422,093
JBrowse link
G MMP1 matrix metallopeptidase 1 disease_progression ISO DNA:SNPs, haplotype:promoter:multiple
DNA:polymorphisms, haplotypes:promoter:multiple
RGD PMID:20655738 PMID:22198560 RGD:8549726 RGD:8549727 NCBI chr 9:33,411,738...33,420,205
Ensembl chr 9:33,411,065...33,420,076
JBrowse link
G MMP2 matrix metallopeptidase 2 severity ISO mRNA:increased expression:skin RGD PMID:12404291 PMID:18251742 PMID:20966734 RGD:13204786 RGD:8657055 RGD:8657075 NCBI chr 6:30,059,247...30,087,031
Ensembl chr 6:30,058,595...30,086,982
JBrowse link
G MMP9 matrix metallopeptidase 9 disease progression ISO DNA:SNP, missense mutations:promoter, cds:-1562C>T,p.R279Q, p.P574R (human) RGD PMID:12404291 PMID:17346338 RGD:13204786 RGD:8547886 NCBI chr17:48,179,690...48,186,782
Ensembl chr17:48,179,671...48,186,788
JBrowse link
G NAIP NLR family apoptosis inhibitory protein exacerbates ISO mRNA:increased expression:zone of skin (human) RGD PMID:31964418 RGD:153344516 NCBI chr16:47,700,869...47,710,036 JBrowse link
G OCA2 OCA2 melanosomal transmembrane protein susceptibility ISO DNA:snp:cds:p.R419Q (rs1800407) (human)
DNA:snps:exon, intron:multiple (human)
DNA:missense mutation:cds:p.H615R (rs1800414) (human)
RGD PMID:15889046 PMID:19710684 PMID:24617981 RGD:9491818 RGD:9491829 RGD:9491831 NCBI chr15:56,657,648...56,869,920
Ensembl chr15:56,657,616...56,869,918
JBrowse link
G PDCD4 programmed cell death 4 disease_progression ISO mRNA:decreased expression:skin (human) RGD PMID:26150475 RGD:11342032 NCBI chr14:121,271,824...121,334,767
Ensembl chr14:121,305,629...121,338,740
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 chr13:117,193,935...117,282,151
Ensembl chr13:117,180,544...117,274,587
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 chr18:22,885,704...22,981,893
Ensembl chr18:22,885,749...22,981,890
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 chr14:99,929,590...100,021,619 JBrowse link
G SLC45A2 solute carrier family 45 member 2 ISO ClinVar Annotator: match by term: Malignant melanoma of skin ClinVar PMID:15714523 PMID:17044855 PMID:17999355 PMID:18563784 PMID:18683857 More... NCBI chr16:19,958,315...20,002,198
Ensembl chr16:19,956,366...20,023,289
JBrowse link
G STAT3 signal transducer and activator of transcription 3 disease_progression ISO RGD PMID:21876460 RGD:8694297 NCBI chr12:20,407,316...20,471,091
Ensembl chr12:20,407,233...20,472,992
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 chr 2:77,229,888...77,249,322
Ensembl chr 2:77,230,372...77,249,327
JBrowse link
G TERT telomerase reverse transcriptase ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr16:79,258,591...79,276,421
Ensembl chr16:79,258,591...79,276,421
JBrowse link
G TP53 tumor protein p53 ISO ClinVar Annotator: match by term: 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 chr12:52,939,643...52,953,786
Ensembl chr12:52,939,644...52,953,818
JBrowse link
G TP73 tumor protein p73 ISO mRNA:increased expression:skin of body (human) RGD PMID:30420492 RGD:151347580 NCBI chr 6:65,169,770...65,228,997
Ensembl chr 6:65,182,456...65,228,990
JBrowse link
G TYR tyrosinase susceptibility ISO DNA:missense mutation:cds:p.R402Q(human) RGD PMID:21906913 RGD:8694390 NCBI chr 9:22,517,047...22,604,290
Ensembl chr 9:22,517,047...22,604,290
JBrowse link
G VDR vitamin D receptor susceptibility
no_association
ISO DNA:missense mutation, silent mutation: :p,M1T, p.I352 (c.1056T>C) (rs2228570, rs731236) (human)
DNA:SNPs: :multiple
RGD PMID:16990805 PMID:19615888 PMID:22576141 RGD:8157629 RGD:8158071 RGD:8158075 NCBI chr 5:78,205,807...78,266,505
Ensembl chr 5:78,205,810...78,266,475
JBrowse link
G XRCC3 X-ray repair cross complementing 3 ISO CTD Direct Evidence: marker/mechanism CTD
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 6:28,188,002...28,261,009
Ensembl chr 6:28,195,647...28,261,009
JBrowse link
G DDX5 DEAD-box helicase 5 ISO protein:increased expression:foreskin (human) RGD PMID:22548649 RGD:9850272 NCBI chr12:14,571,712...14,580,740
Ensembl chr12:14,571,951...14,580,742
JBrowse link
G FAT1 FAT atypical cadherin 1 disease_progression ISO associated with Neoplasm Metastasis RGD PMID:33328637 RGD:151347447 NCBI chr17:8,466,099...8,580,715
Ensembl chr17:8,457,187...8,580,715
JBrowse link
G FGF10 fibroblast growth factor 10 ISO Pten conditional KO mouse RGD PMID:24582960 RGD:126928134 NCBI chr16:28,695,465...28,779,953
Ensembl chr16:28,695,470...28,777,509
JBrowse link
G FYN FYN proto-oncogene, Src family tyrosine kinase ISO MouseDO NCBI chr 1:77,584,675...77,810,605
Ensembl chr 1:77,585,439...77,810,581
JBrowse link
G IVD isovaleryl-CoA dehydrogenase ISO DNA:mutation:cds: p.Ser24Phe(human)
DNA:mutation:cds: p.Ala40Glu (human)
RGD PMID:25194279 PMID:30972880 RGD:28867225 RGD:28867226 NCBI chr 1:130,916,956...130,930,172
Ensembl chr 1:130,916,146...130,930,078
JBrowse link
G PTEN phosphatase and tensin homolog ameliorates ISO RGD PMID:24582960 RGD:126928134 NCBI chr14:99,929,590...100,021,619 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15430
    disease of anatomical entity 15099
      integumentary system disease 4060
        integumentary system cancer 253
          skin cancer 253
            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 + 174
            skin glomus tumor 0
            skin melanoma + 84
            skin meningioma 0
            skin sarcoma + 0
            sweat gland cancer + 3
Path 2
Term Annotations click to browse term
  disease 15430
    Pathological Conditions, Signs and Symptoms 12091
      Signs and Symptoms 10145
        Neurologic Manifestations 9826
          sensory system disease 6942
            skin disease 4060
              Skin Neoplasms 489
                skin cancer 253
                  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 + 174
                  skin glomus tumor 0
                  skin melanoma + 84
                  skin meningioma 0
                  skin sarcoma + 0
                  sweat gland cancer + 3
paths to the root