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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

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


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skin cancer term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANXA7 annexin A7 ISO protein:decreased expression:skin RGD PMID:17708571 RGD:2292654 NCBI chr 9:57,863,482...57,900,972
Ensembl chr 9:57,863,546...57,900,324
JBrowse link
G CHUK component of inhibitor of nuclear factor kappa B kinase complex ISO RGD PMID:21755017 RGD:13504775 NCBI chr 9:93,219,374...93,263,077
Ensembl chr 9:93,219,383...93,262,700
JBrowse link
G CRKL CRK like proto-oncogene, adaptor protein ISO RGD PMID:16391854 RGD:7488899
G PML PML nuclear body scaffold severity ISO human gene in a mouse model RGD PMID:19058256 RGD:41404688 NCBI chr26:9,441,998...9,494,949
Ensembl chr26:9,451,112...9,494,931
JBrowse link
G SNAI1 snail family transcriptional repressor 1 ISO MouseDO NCBI chr 2:13,988,059...13,993,780
Ensembl chr 2:13,988,024...13,993,746
JBrowse link
G SRSF6 serine and arginine rich splicing factor 6 ISO protein:increased expression:skin (human) RGD PMID:24440982 RGD:11039481 NCBI chr 2:20,340,163...20,345,873
Ensembl chr 2:20,342,681...20,346,122
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 chr22:79,896,800...80,144,786
Ensembl chr22:79,964,684...80,143,496
JBrowse link
G ACAA2 acetyl-CoA acyltransferase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr18:31,152,067...31,181,020
Ensembl chr18:31,152,074...31,181,706
JBrowse link
G ACADL acyl-CoA dehydrogenase long chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr10:95,886,502...95,925,928
Ensembl chr10:95,887,465...95,925,578
JBrowse link
G ADAM23 ADAM metallopeptidase domain 23 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr10:92,218,999...92,390,905
Ensembl chr10:92,219,253...92,391,091
JBrowse link
G ALCAM activated leukocyte cell adhesion molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr22:75,261,104...75,475,201
Ensembl chr22:75,260,970...75,321,082
JBrowse link
G ALYREF Aly/REF export factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr16:73,761,763...73,765,560
Ensembl chr16:73,757,072...73,765,531
JBrowse link
G ARID5B AT-rich interaction domain 5B ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 9:69,190,100...69,382,448
Ensembl chr 9:69,190,045...69,382,069
JBrowse link
G ARPC1B actin related protein 2/3 complex subunit 1B ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr28:13,764,637...13,780,317 JBrowse link
G ASIP agouti signaling protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:18488027 NCBI chr 2:38,479,328...38,568,756 JBrowse link
G ATF2 activating transcription factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr10:60,644,623...60,734,465
Ensembl chr10:60,644,635...60,734,475
JBrowse link
G ATP5PB ATP synthase peripheral stalk-membrane subunit b ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr20:22,150,488...22,162,740
Ensembl chr20:22,150,239...22,162,312
JBrowse link
G BAP1 BRCA1 associated deubiquitinase 1 ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:25080371 PMID:26719535 RGD:9586038 NCBI chr22:13,765,510...13,774,866
Ensembl chr22:13,764,686...13,774,740
JBrowse link
G BASP1 brain abundant membrane attached signal protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 4:16,871,488...16,937,685
Ensembl chr 4:16,936,178...16,936,858
JBrowse link
G BNC2 basonuclin zinc finger protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr12:62,775,827...63,233,077
Ensembl chr12:62,777,045...63,223,696
JBrowse link
G C1QA complement C1q A chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr20:110,024,847...110,027,868 JBrowse link
G C1QTNF1 C1q and TNF related 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr16:70,993,035...71,018,240
Ensembl chr16:70,992,936...71,018,327
JBrowse link
G CAV1 caveolin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr21:85,222,724...85,258,562
Ensembl chr21:85,222,879...85,258,627
JBrowse link
G CCDC152 coiled-coil domain containing 152 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 4:41,495,323...41,544,709
Ensembl chr 4:41,497,708...41,544,009
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 4:81,373,812...81,392,454
Ensembl chr 4:81,373,994...81,392,326
JBrowse link
G CHCHD7 coiled-coil-helix-coiled-coil-helix domain containing 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 8:52,251,189...52,258,475
Ensembl chr 8:52,252,455...52,257,336
JBrowse link
G CHD3 chromodomain helicase DNA binding protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr16:7,274,634...7,300,831
Ensembl chr16:7,276,850...7,300,832
JBrowse link
G CHGA chromogranin A ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr24:70,663,040...70,675,827
Ensembl chr24:70,663,298...70,677,116
JBrowse link
G CLPTM1L CLPTM1 like ISO CTD Direct Evidence: marker/mechanism CTD PMID:19151717 NCBI chr 4:1,140,272...1,162,663
Ensembl chr 4:1,140,132...1,162,898
JBrowse link
G COA3 cytochrome c oxidase assembly factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr16:63,485,730...63,487,076 JBrowse link
G COA7 cytochrome c oxidase assembly factor 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr20:80,244,277...80,256,969
Ensembl chr20:80,244,267...80,259,348
JBrowse link
G CREB5 cAMP responsive element binding protein 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr21:29,542,030...29,960,393
Ensembl chr21:29,548,662...29,902,289
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 chr 2:49,052,304...49,070,600
Ensembl chr 2:49,054,125...49,070,576
JBrowse link
G CSPG4 chondroitin sulfate proteoglycan 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr26:7,735,972...7,761,355
Ensembl chr26:7,694,014...7,761,342
JBrowse link
G CTCF CCCTC-binding factor ISO DNA:mutations:multiple (human) RGD PMID:27974201 RGD:151356739 NCBI chr 5:59,806,753...59,889,534
Ensembl chr 5:59,806,551...59,880,049
JBrowse link
G CTLA4 cytotoxic T-lymphocyte associated protein 4 susceptibility ISO DNA:SNP: :rs3087243(human) RGD PMID:19622768 RGD:7411686 NCBI chr10:89,637,176...89,644,436
Ensembl chr10:89,638,314...89,642,344
JBrowse link
G DCLRE1A DNA cross-link repair 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 9:106,713,857...106,735,268
Ensembl chr 9:106,713,895...106,731,999
JBrowse link
G DCP1B decapping mRNA 1B ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr11:1,992,583...2,057,717
Ensembl chr11:1,999,353...2,057,713
JBrowse link
G DHX15 DEAH-box helicase 15 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr27:25,775,156...25,832,309
Ensembl chr27:25,775,160...25,831,860
JBrowse link
G DIO2 iodothyronine deiodinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr24:57,521,806...57,536,508 JBrowse link
G DSC2 desmocollin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr18:49,596,870...49,637,587
Ensembl chr18:49,599,940...49,639,526
JBrowse link
G DUSP10 dual specificity phosphatase 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr25:7,790,969...7,833,485
Ensembl chr25:7,792,913...7,834,346
JBrowse link
G EDN1 endothelin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr17:59,854,186...59,861,319
Ensembl chr17:59,853,699...59,861,198
JBrowse link
G ELK3 ETS transcription factor ELK3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr11:91,556,276...91,633,236
Ensembl chr11:91,556,333...91,633,592
JBrowse link
G ERBB2 erb-b2 receptor tyrosine kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26950094 NCBI chr16:66,435,488...66,464,993
Ensembl chr16:66,434,251...66,464,952
JBrowse link
G FAM234A family with sequence similarity 234 member A ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 5:198,854...211,791
Ensembl chr 5:198,575...211,845
JBrowse link
G FARP1 FERM, ARH/RhoGEF and pleckstrin domain protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 3:76,807,172...77,102,146
Ensembl chr 3:76,807,211...77,100,720
JBrowse link
G FBN3 fibrillin 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 6:7,507,652...7,594,703 JBrowse link
G FBXW7 F-box and WD repeat domain containing 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26950094 NCBI chr 7:98,894,261...99,105,955
Ensembl chr 7:98,892,504...99,106,084
JBrowse link
G FMO2 flavin containing dimethylaniline monoxygenase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr25:57,869,866...57,892,359
Ensembl chr25:57,866,555...57,892,193
JBrowse link
G FNBP1L formin binding protein 1 like ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr20:39,686,836...39,788,948
Ensembl chr20:39,686,742...39,788,893
JBrowse link
G FSCN1 fascin actin-bundling protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr28:16,127,033...16,142,285
Ensembl chr28:16,127,015...16,142,337
JBrowse link
G GALNT15 polypeptide N-acetylgalactosaminyltransferase 15 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr15:61,022,733...61,078,748
Ensembl chr15:61,023,741...61,073,958
JBrowse link
G GJB6 gap junction protein beta 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 3:775,410...783,770
Ensembl chr 3:782,251...783,036
JBrowse link
G GLI2 GLI family zinc finger 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10700170 PMID:36428691 NCBI chr10:9,302,890...9,561,287
Ensembl chr10:9,304,645...9,369,115
JBrowse link
G GPX8 glutathione peroxidase 8 (putative) ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 4:51,393,425...51,398,237
Ensembl chr 4:51,393,488...51,400,704
JBrowse link
G GRM5 glutamate metabotropic receptor 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 1:79,636,636...80,206,471 JBrowse link
G GTF2I general transcription factor IIi ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr28:8,361,187...8,463,469
Ensembl chr28:8,363,057...8,435,750
JBrowse link
G HHIP hedgehog interacting protein treatment ISO mRNA:increased expression:skin: RGD PMID:15024045 RGD:11552592 NCBI chr 7:91,216,874...91,311,392
Ensembl chr 7:91,216,955...91,310,387
JBrowse link
G IFT88 intraflagellar transport 88 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 3:435,649...546,661
Ensembl chr 3:436,207...546,583
JBrowse link
G IGF2BP1 insulin like growth factor 2 mRNA binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr16:69,405,923...69,461,613
Ensembl chr16:69,406,549...69,459,175
JBrowse link
G IGF2BP2 insulin like growth factor 2 mRNA binding protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr15:3,607,764...3,793,386
Ensembl chr15:3,607,849...3,791,631
JBrowse link
G IL6 interleukin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22108589 NCBI chr21:35,577,513...35,582,385
Ensembl chr21:35,577,939...35,582,237
JBrowse link
G INPP4A inositol polyphosphate-4-phosphatase type I A ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr14:2,161,649...2,306,023
Ensembl chr14:2,235,510...2,302,858
JBrowse link
G IRS4 insulin receptor substrate 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr  X:96,589,292...96,605,715
Ensembl chr  X:96,601,944...96,605,699
JBrowse link
G IRX1 iroquois homeobox 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 4:3,365,880...3,371,520
Ensembl chr 4:3,366,384...3,371,670
JBrowse link
G JUN Jun proto-oncogene, AP-1 transcription factor subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr20:74,204,481...74,207,835
Ensembl chr20:74,205,542...74,206,546
JBrowse link
G KRT17 keratin 17 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20871598 PMID:36428691 NCBI chr16:64,615,194...64,622,931
Ensembl chr16:64,617,219...64,622,971
JBrowse link
G KRT5 keratin 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19578363 PMID:20871598 NCBI chr11:48,660,946...48,673,593
Ensembl chr11:48,660,961...48,666,830
JBrowse link
G LATS1 large tumor suppressor kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26950094 NCBI chr13:21,901,153...21,966,227
Ensembl chr13:21,919,280...21,967,117
JBrowse link
G LEF1 lymphoid enhancer binding factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 7:55,974,770...56,096,214
Ensembl chr 7:55,990,621...56,094,110
JBrowse link
G LGR5 leucine rich repeat containing G protein-coupled receptor 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr11:67,054,004...67,202,574
Ensembl chr11:67,141,531...67,202,547
JBrowse link
G LITAF lipopolysaccharide induced TNF factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 5:11,023,158...11,099,133
Ensembl chr 5:11,021,717...11,059,149
JBrowse link
G LMAN1 lectin, mannose binding 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr18:20,377,259...20,409,565
Ensembl chr18:20,377,255...20,409,741
JBrowse link
G LOC103219825 protein patched homolog 1 disease_progression ISO mRNA:increased expression:skin of body
ClinVar Annotator: match by term: BCC1 | ClinVar Annotator: match by term: Basal cell carcinoma | ClinVar Annotator: match by term: Basal cell carcinoma, somatic | ClinVar Annotator: match by term: Basal cell carcinoma, susceptibility to, 1 | ClinVar Annotator: match by term: Basal cell carcinoma, susceptibility to, 7
RGD
ClinVar
OMIM
PMID:8782823 PMID:8840969 PMID:9620294 PMID:10504535 PMID:11231326 More... RGD:12801453 NCBI chr12:107,580,895...107,656,443
Ensembl chr12:107,590,663...107,652,985
JBrowse link
G LOC103221571 transmembrane protein 217 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr17:34,878,625...34,926,247 JBrowse link
G LOC103238261 tubulin alpha-1A chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr11:45,419,046...45,423,574
Ensembl chr11:45,418,748...45,423,685
JBrowse link
G LPL lipoprotein lipase ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 8:18,009,049...18,038,315
Ensembl chr 8:18,009,093...18,038,598
JBrowse link
G LRIG3 leucine rich repeats and immunoglobulin like domains 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr11:54,806,138...54,853,811
Ensembl chr11:54,806,579...54,853,645
JBrowse link
G LRRCC1 leucine rich repeat and coiled-coil centrosomal protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 8:80,472,236...80,513,924
Ensembl chr 8:80,472,931...80,514,538
JBrowse link
G LTBP1 latent transforming growth factor beta binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr14:74,063,258...74,441,042
Ensembl chr14:74,064,087...74,548,825
JBrowse link
G MARCKSL1 MARCKS like 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr20:100,527,281...100,529,577 JBrowse link
G MEX3A mex-3 RNA binding family member A ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr20:7,781,766...7,793,373 JBrowse link
G MGAT5 alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr10:18,357,893...18,686,009
Ensembl chr10:18,487,693...18,685,669
JBrowse link
G MMP11 matrix metallopeptidase 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr19:6,889,343...6,900,563
Ensembl chr19:6,889,385...6,899,788
JBrowse link
G MPPED1 metallophosphoesterase domain containing 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr19:25,978,304...26,013,760 JBrowse link
G MYCN MYCN proto-oncogene, bHLH transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:26950094 NCBI chr14:91,685,376...91,692,091 JBrowse link
G MYH9 myosin heavy chain 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr19:18,985,709...19,093,304
Ensembl chr19:18,986,598...19,052,671
JBrowse link
G NNMT nicotinamide N-methyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 1:105,650,178...105,708,441
Ensembl chr 1:105,690,085...105,713,010
JBrowse link
G NUDCD1 NudC domain containing 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 8:103,952,873...104,044,592
Ensembl chr 8:103,951,207...104,044,468
JBrowse link
G NXN nucleoredoxin ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr16:543,375...717,671 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 chr26:54,022,346...54,429,991
Ensembl chr26:54,039,197...54,352,774
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 chr22:45,757,414...45,763,690 JBrowse link
G OSCP1 organic solute carrier partner 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr20:96,413,972...96,444,799
Ensembl chr20:96,414,034...96,444,824
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 5:21,322,952...21,358,363
Ensembl chr 5:21,322,975...21,358,198
JBrowse link
G PALM paralemmin ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 6:461,030...503,688
Ensembl chr 6:474,474...504,230
JBrowse link
G PELI2 pellino E3 ubiquitin protein ligase family member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr24:33,319,212...33,669,878
Ensembl chr24:33,319,402...33,505,705
JBrowse link
G PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:26950094 NCBI chr15:10,218,034...10,304,874
Ensembl chr15:10,218,805...10,294,316
JBrowse link
G PLAG1 PLAG1 zinc finger ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 8:52,200,365...52,250,938
Ensembl chr 8:52,203,467...52,250,918
JBrowse link
G PNMA1 PNMA family member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr24:50,915,035...50,917,813
Ensembl chr24:50,915,944...50,917,002
JBrowse link
G PPP6C protein phosphatase 6 catalytic subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:26950094 NCBI chr12:12,964,706...13,007,339
Ensembl chr12:12,964,842...13,007,351
JBrowse link
G PROCR protein C receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 2:39,464,322...39,481,498
Ensembl chr 2:39,476,110...39,481,641
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 chr20:87,953,877...87,975,087
Ensembl chr20:87,953,971...87,974,607
JBrowse link
G PTPN14 protein tyrosine phosphatase non-receptor type 14 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26950094 NCBI chr25:15,023,914...15,228,680
Ensembl chr25:15,110,687...15,219,492
JBrowse link
G PYCR2 pyrroline-5-carboxylate reductase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr25:3,846,518...3,850,976
Ensembl chr25:3,846,501...3,851,856
JBrowse link
G RAB28 RAB28, member RAS oncogene family ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr27:36,699,000...36,849,208
Ensembl chr27:36,698,770...36,818,979
JBrowse link
G RAC3 Rac family small GTPase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr16:73,919,086...73,921,647
Ensembl chr16:73,919,128...73,925,277
JBrowse link
G RASA1 RAS p21 protein activator 1 ISO ClinVar Annotator: match by term: BCC1 | ClinVar Annotator: match by term: Basal cell carcinoma, somatic | ClinVar Annotator: match by term: Basal cell carcinoma, susceptibility to, 1 | ClinVar Annotator: match by term: RASA1-related condition OMIM
ClinVar
PMID:8275088 PMID:9219684 PMID:15574420 PMID:18363760 PMID:18446851 More... NCBI chr 4:81,249,851...81,371,486
Ensembl chr 4:81,249,805...81,370,453
JBrowse link
G RB1 RB transcriptional corepressor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26950094 NCBI chr 3:26,220,783...26,393,671
Ensembl chr 3:26,220,803...26,394,546
JBrowse link
G RBP1 retinol binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr15:51,011,664...51,033,963 JBrowse link
G RGCC regulator of cell cycle ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 3:19,681,700...19,695,655
Ensembl chr 3:19,681,874...19,693,644
JBrowse link
G ROCK1 Rho associated coiled-coil containing protein kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr18:59,384,822...59,538,780
Ensembl chr18:59,384,944...59,540,070
JBrowse link
G RPE65 retinoid isomerohydrolase RPE65 ISO mRNA:increased expression:skin (human) RGD PMID:16181461 RGD:9495923 NCBI chr20:64,662,777...64,684,178
Ensembl chr20:64,664,358...64,683,211
JBrowse link
G RUNX1T1 RUNX1 partner transcriptional co-repressor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 8:86,984,638...87,127,648
Ensembl chr 8:86,988,366...87,090,875
JBrowse link
G SCAMP5 secretory carrier membrane protein 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr26:8,452,276...8,517,949 JBrowse link
G SETBP1 SET binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr18:35,819,559...36,195,895 JBrowse link
G SH3BP4 SH3 domain binding protein 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr10:120,974,110...121,075,584
Ensembl chr10:121,054,665...121,073,708
JBrowse link
G SHH sonic hedgehog signaling molecule ISO DNA, protein:hypermethylation, decreased expression:skin of body RGD PMID:23284750 RGD:12801452 NCBI chr21:123,929,937...123,942,451
Ensembl chr21:123,932,900...123,942,395
JBrowse link
G SHOX2 SHOX homeobox 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr15:32,684,598...32,694,640
Ensembl chr15:32,684,705...32,692,699
JBrowse link
G SLC45A2 solute carrier family 45 member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19578363 NCBI chr 4:33,178,614...33,219,664
Ensembl chr 4:33,179,349...33,219,028
JBrowse link
G SLC7A2 solute carrier family 7 member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 8:15,591,795...15,665,837
Ensembl chr 8:15,638,113...15,660,487
JBrowse link
G SLCO2A1 solute carrier organic anion transporter family member 2A1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr15:56,339,585...56,427,196
Ensembl chr15:56,339,744...56,430,032
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 chr21:97,788,955...97,814,549
Ensembl chr21:97,788,624...97,814,709
JBrowse link
G SOBP sine oculis binding protein homolog ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr13:66,202,747...66,374,992
Ensembl chr13:66,227,944...66,374,736
JBrowse link
G SOX18 SRY-box transcription factor 18 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 2:195,418...197,221 JBrowse link
G SPON2 spondin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr27:47,609,170...47,615,507
Ensembl chr27:47,609,922...47,615,496
JBrowse link
G SRGAP1 SLIT-ROBO Rho GTPase activating protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr11:59,548,703...59,856,493
Ensembl chr11:59,549,225...59,851,302
JBrowse link
G SSR3 signal sequence receptor subunit 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr15:34,206,715...34,221,774 JBrowse link
G STMN1 stathmin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr20:106,866,719...106,873,314
Ensembl chr20:106,868,838...106,874,403
JBrowse link
G SUFU SUFU negative regulator of hedgehog signaling ISO CTD Direct Evidence: marker/mechanism CTD PMID:26950094 NCBI chr 9:95,532,228...95,660,594
Ensembl chr 9:95,532,242...95,657,290
JBrowse link
G SYNJ1 synaptojanin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 2:59,421,561...59,523,076
Ensembl chr 2:59,422,110...59,523,176
JBrowse link
G TBX1 T-box transcription factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr19:5,980,114...5,986,313
Ensembl chr19:5,980,587...5,987,244
JBrowse link
G TERT telomerase reverse transcriptase ISO CTD Direct Evidence: marker/mechanism CTD PMID:19151717 NCBI chr 4:1,082,894...1,119,373
Ensembl chr 4:1,083,384...1,117,468
JBrowse link
G TGFB2 transforming growth factor beta 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr25:11,163,651...11,259,868
Ensembl chr25:11,163,100...11,258,470
JBrowse link
G TGS1 trimethylguanosine synthase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 8:51,819,132...51,868,566
Ensembl chr 8:51,819,572...51,856,172
JBrowse link
G TM4SF1 transmembrane 4 L six family member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr15:41,330,866...41,340,366
Ensembl chr15:41,330,904...41,340,385
JBrowse link
G TMCO3 transmembrane and coiled-coil domains 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 3:91,465,606...91,521,196
Ensembl chr 3:91,469,996...91,521,389
JBrowse link
G TMEM104 transmembrane protein 104 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr16:46,813,891...46,882,464
Ensembl chr16:46,813,939...46,881,686
JBrowse link
G TMEM170A transmembrane protein 170A ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 5:60,932,401...60,948,951
Ensembl chr 5:60,928,179...60,949,019
JBrowse link
G TMEM176B transmembrane protein 176B ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr21:118,982,623...119,015,521
Ensembl chr21:118,982,603...118,992,860
JBrowse link
G TMEM19 transmembrane protein 19 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr11:67,302,219...67,318,567
Ensembl chr11:67,302,175...67,317,347
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 chr16:7,047,686...7,065,567
Ensembl chr16:7,045,146...7,066,223
JBrowse link
G TRIL TLR4 interactor with leucine rich repeats ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr21:29,416,135...29,421,192 JBrowse link
G TYR tyrosinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:18488027 NCBI chr 1:80,330,051...80,444,646 JBrowse link
G UBAC2 UBA domain containing 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 3:77,859,634...78,045,245
Ensembl chr 3:77,860,066...78,045,311
JBrowse link
G UST uronyl 2-sulfotransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr13:22,595,088...22,934,184 JBrowse link
G VASH2 vasohibin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr25:16,564,009...16,603,961
Ensembl chr25:16,566,999...16,603,962
JBrowse link
G VCAN versican ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 4:77,581,627...77,692,495
Ensembl chr 4:77,593,449...77,690,616
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 chr11:44,062,198...44,126,295
Ensembl chr11:44,065,457...44,166,684
JBrowse link
G VPS37D VPS37D subunit of ESCRT-I ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr28:9,393,163...9,398,387
Ensembl chr28:9,393,354...9,398,378
JBrowse link
G WHR1 winged helix repair factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26950094 NCBI chr17:40,042,264...40,049,983
Ensembl chr17:40,009,273...40,049,936
JBrowse link
G XPA XPA, DNA damage recognition and repair factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:17687452 NCBI chr12:41,711,872...41,735,024
Ensembl chr12:41,711,943...41,725,698
JBrowse link
G XRCC3 X-ray repair cross complementing 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16501254 NCBI chr24:81,627,911...81,641,598
Ensembl chr24:81,630,099...81,641,218
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 chr10:101,952,909...102,051,059
Ensembl chr10:101,953,067...102,049,964
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 chr19:24,160,459...24,204,237
Ensembl chr19:24,160,483...24,206,320
JBrowse link
basaloid squamous cell carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC103219825 protein patched homolog 1 ISO DNA:missense mutations, nonsense mutations RGD PMID:25395299 RGD:150523793 NCBI chr12:107,580,895...107,656,443
Ensembl chr12:107,590,663...107,652,985
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 chr15:10,218,034...10,304,874
Ensembl chr15:10,218,805...10,294,316
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 chr11:45,260,873...45,303,898
Ensembl chr11:45,263,408...45,302,423
JBrowse link
G MRE11 MRE11 homolog, double strand break repair nuclease ISO ClinVar Annotator: match by term: Eccrine porocarcinoma ClinVar NCBI chr 1:85,615,448...85,694,247
Ensembl chr 1:85,610,819...85,694,269
JBrowse link
G TBX3 T-box transcription factor 3 ISO ClinVar Annotator: match by term: Eccrine porocarcinoma ClinVar NCBI chr11:109,952,100...109,966,328
Ensembl chr11:109,952,054...109,965,065
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 chr11:53,638,722...53,655,826
Ensembl chr11:53,640,079...53,651,913
JBrowse link
G ARHGAP9 Rho GTPase activating protein 9 ISO ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:28492532 NCBI chr11:53,384,335...53,398,445
Ensembl chr11:53,384,449...53,396,083
JBrowse link
G ARHGEF25 Rho guanine nucleotide exchange factor 25 ISO ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:28492532 NCBI chr11:53,518,295...53,525,428
Ensembl chr11:53,518,397...53,525,068
JBrowse link
G B4GALNT1 beta-1,4-N-acetyl-galactosaminyltransferase 1 ISO ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:28492532 NCBI chr11:53,533,485...53,541,915
Ensembl chr11:53,530,886...53,540,178
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 chr22:13,765,510...13,774,866
Ensembl chr22:13,764,686...13,774,740
JBrowse link
G BRAF B-Raf proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 1
ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 1 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10
ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 1 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10
ClinVar
OMIM
PMID:2500657 PMID:16439621 PMID:16474404 PMID:17366577 PMID:17551924 More... NCBI chr21:109,495,525...109,690,261 JBrowse link
G CDK4 cyclin dependent kinase 4 ISO ClinVar Annotator: match by term: Cutaneous Malignant Melanoma, Dominant | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: MELANOMA AND RENAL CELL CARCINOMA, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 1 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5
ClinVar Annotator: match by term: Cutaneous Malignant Melanoma, Dominant | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: MELANOMA AND RENAL CELL CARCINOMA, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3
ClinVar Annotator: match by term: Cutaneous Malignant Melanoma, Dominant | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Hereditary cutaneous melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5
ClinVar Annotator: match by term: Cutaneous Malignant Melanoma, Dominant | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 2 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3
ClinVar Annotator: match by term: Cutaneous Malignant Melanoma, Dominant | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3
ClinVar Annotator: match by term: Cutaneous Malignant Melanoma, Dominant | ClinVar Annotator: match by term: Cutaneous malignant melanoma 5 | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5
ClinVar Annotator: match by term: Cutaneous Malignant Melanoma, Dominant | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 2 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5
ClinVar Annotator: match by term: Cutaneous Malignant Melanoma, Dominant | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5
OMIM
ClinVar
PMID:5377176 PMID:7652577 PMID:8528263 PMID:8968104 PMID:9228064 More... NCBI chr11:53,661,877...53,665,688
Ensembl chr11:53,659,336...53,664,861
JBrowse link
G CYP27B1 cytochrome P450 family 27 subfamily B member 1 ISO ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:28492532 NCBI chr11:53,675,704...53,681,372
Ensembl chr11:53,675,226...53,680,443
JBrowse link
G DCTN2 dynactin subunit 2 ISO ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:28492532 NCBI chr11:53,438,878...53,456,181
Ensembl chr11:53,439,249...53,456,267
JBrowse link
G DDIT3 DNA damage inducible transcript 3 ISO ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:28492532 NCBI chr11:53,424,693...53,429,094
Ensembl chr11:53,424,868...53,425,576
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 chr22:13,678,132...13,764,988
Ensembl chr22:13,683,487...13,764,937
JBrowse link
G DTX3 deltex E3 ubiquitin ligase 3 ISO ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:28492532 NCBI chr11:53,512,657...53,517,978
Ensembl chr11:53,515,043...53,517,330
JBrowse link
G EEF1AKMT3 EEF1A lysine methyltransferase 3 ISO ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:28492532 NCBI chr11:53,685,432...53,695,666
Ensembl chr11:53,686,085...53,693,779
JBrowse link
G FANCA FA complementation group A ISO ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 ClinVar PMID:28492532 NCBI chr 5:75,073,161...75,149,110
Ensembl chr 5:75,073,358...75,148,591
JBrowse link
G GLI1 GLI family zinc finger 1 ISO ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:28492532 NCBI chr11:53,371,929...53,384,339
Ensembl chr11:53,375,558...53,385,269
JBrowse link
G INHBC inhibin subunit beta C ISO ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:28492532 NCBI chr11:53,340,873...53,362,950
Ensembl chr11:53,348,742...53,362,269
JBrowse link
G INHBE inhibin subunit beta E ISO ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:28492532 NCBI chr11:53,367,304...53,369,205
Ensembl chr11:53,367,423...53,370,322
JBrowse link
G KIF5A kinesin family member 5A ISO ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:28492532 NCBI chr11:53,458,795...53,493,801 JBrowse link
G KLC1 kinesin light chain 1 ISO ClinVar Annotator: match by term: Cutaneous malignant melanoma 6 ClinVar PMID:11059748 PMID:28492532 NCBI chr24:81,617,049...81,632,845 JBrowse link
G LRP1 LDL receptor related protein 1 ISO ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:28492532 NCBI chr11:53,039,147...53,125,041
Ensembl chr11:53,039,364...53,125,776
JBrowse link
G MARCHF9 membrane associated ring-CH-type finger 9 ISO ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:28492532 NCBI chr11:53,668,228...53,673,054 JBrowse link
G MARS1 methionyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:28492532 NCBI chr11:53,397,380...53,410,596 JBrowse link
G MBD6 methyl-CpG binding domain protein 6 ISO ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:28492532 NCBI chr11:53,431,423...53,438,719
Ensembl chr11:53,432,903...53,437,817
JBrowse link
G METTL1 methyltransferase 1, tRNA methylguanosine ISO ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:28492532 NCBI chr11:53,681,898...53,685,942
Ensembl chr11:53,679,498...53,685,891
JBrowse link
G MITF melanocyte inducing transcription factor ISO ClinVar Annotator: match by term: MELANOMA AND RENAL CELL CARCINOMA, SUSCEPTIBILITY TO
ClinVar Annotator: match by term: MELANOMA AND RENAL CELL CARCINOMA, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 8
ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: MELANOMA AND RENAL CELL CARCINOMA, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 8
ClinVar
OMIM
PMID:2440678 PMID:8589691 PMID:8659547 PMID:9536098 PMID:10587587 More... NCBI chr22:30,747,747...30,971,951
Ensembl chr22:30,748,440...30,972,168
JBrowse link
G NDUFA4L2 NDUFA4 mitochondrial complex associated like 2 ISO ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:28492532 NCBI chr11:53,146,754...53,152,917
Ensembl chr11:53,147,415...53,148,926
JBrowse link
G NXPH4 neurexophilin 4 ISO ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:28492532 NCBI chr11:53,128,704...53,138,272
Ensembl chr11:53,128,863...53,137,569
JBrowse link
G OS9 OS9 endoplasmic reticulum lectin ISO ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:28492532 NCBI chr11:53,606,916...53,635,152
Ensembl chr11:53,607,008...53,635,793
JBrowse link
G PIP4K2C phosphatidylinositol-5-phosphate 4-kinase type 2 gamma ISO ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:28492532 NCBI chr11:53,499,360...53,511,610
Ensembl chr11:53,499,432...53,509,799
JBrowse link
G POT1 protection of telomeres 1 ISO ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5
ClinVar Annotator: match by term: Cutaneous malignant melanoma 9 | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 1 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5
ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Hereditary cutaneous melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 1 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 8 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 9
ClinVar Annotator: match by term: Cutaneous malignant melanoma 9 | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: MELANOMA AND RENAL CELL CARCINOMA, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 1 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 2 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 8
ClinVar Annotator: match by term: Cutaneous malignant melanoma 5 | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 1 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 2 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 8
ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Hereditary cutaneous melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 1 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5
ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 1 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5
ClinVar Annotator: match by term: Cutaneous Malignant Melanoma, Dominant | ClinVar Annotator: match by term: Cutaneous malignant melanoma 5 | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5
ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 2 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 8
ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5
ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 2 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 6
ClinVar Annotator: match by term: Cutaneous malignant melanoma 5 | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5
ClinVar
OMIM
PMID:9536098 PMID:16199547 PMID:17576681 PMID:19461895 PMID:19763152 More... NCBI chr21:93,572,139...93,688,374
Ensembl chr21:93,571,272...93,655,869
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 chr 9:81,308,058...81,412,386
Ensembl chr 9:81,309,099...81,409,146
JBrowse link
G R3HDM2 R3H domain containing 2 ISO ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:28492532 NCBI chr11:53,165,259...53,340,627
Ensembl chr11:53,164,779...53,224,708
JBrowse link
G SHMT2 serine hydroxymethyltransferase 2 ISO ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 ClinVar PMID:28492532 NCBI chr11:53,141,435...53,146,625
Ensembl chr11:53,141,462...53,147,795
JBrowse link
G SPIRE2 spire type actin nucleation factor 2 ISO ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 ClinVar PMID:28492532 NCBI chr 5:75,160,728...75,200,417
Ensembl chr 5:75,177,082...75,201,581
JBrowse link
G STAC3 SH3 and cysteine rich domain 3 ISO ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:28492532 NCBI chr11:53,149,572...53,163,036
Ensembl chr11:53,154,755...53,163,090
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 chr 6:973,033...996,857
Ensembl chr 6:974,144...995,136
JBrowse link
G TCF25 transcription factor 25 ISO ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 ClinVar PMID:28492532 NCBI chr 5:75,205,506...75,235,290
Ensembl chr 5:75,205,504...75,235,777
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 chr 4:1,082,894...1,119,373
Ensembl chr 4:1,083,384...1,117,468
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 chr16:7,047,686...7,065,567
Ensembl chr16:7,045,146...7,066,223
JBrowse link
G TSFM Ts translation elongation factor, mitochondrial ISO ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:28492532 NCBI chr11:53,696,197...53,714,949
Ensembl chr11:53,696,228...53,708,957
JBrowse link
G TSPAN31 tetraspanin 31 ISO ClinVar Annotator: match by term: Cutaneous Malignant Melanoma, Dominant | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5
ClinVar Annotator: match by term: Cutaneous Malignant Melanoma, Dominant | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3
ClinVar Annotator: match by term: Cutaneous Malignant Melanoma, Dominant | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5
ClinVar PMID:9536098 PMID:17576681 PMID:20668451 PMID:21520333 PMID:23718828 More... NCBI chr11:53,658,532...53,661,159
Ensembl chr11:53,658,802...53,660,951
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 1:80,330,051...80,444,646 JBrowse link
G XRCC3 X-ray repair cross complementing 3 ISO ClinVar Annotator: match by term: Cutaneous malignant melanoma 6 ClinVar
OMIM
PMID:11059748 PMID:28492532 NCBI chr24:81,627,911...81,641,598
Ensembl chr24:81,630,099...81,641,218
JBrowse link
Ferguson-Smith tumor term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TGFBR1 transforming growth factor beta receptor 1 ISO ClinVar Annotator: match by term: Ferguson-Smith type epithelioma | ClinVar Annotator: match by term: Multiple self-healing squamous epithelioma ClinVar
OMIM
PMID:2511639 PMID:2647812 PMID:5173258 PMID:8499949 PMID:16596670 More... NCBI chr12:40,272,507...40,321,740
Ensembl chr12:40,276,916...40,297,372
JBrowse link
keratoacanthoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NOTCH1 notch receptor 1 ISO ClinVar Annotator: match by term: Keratoacanthoma ClinVar PMID:27283355 NCBI chr12:1,656,815...1,707,566
Ensembl chr12:1,656,918...1,709,585
JBrowse link
G NOTCH2 notch receptor 2 ISO ClinVar Annotator: match by term: Keratoacanthoma ClinVar PMID:27283355 NCBI chr20:13,712,140...13,871,777
Ensembl chr20:13,712,292...13,871,784
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 chr15:10,218,034...10,304,874
Ensembl chr15:10,218,805...10,294,316
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 chr16:6,956,633...6,959,645
Ensembl chr16:6,957,212...6,959,042
JBrowse link
G FGFR3 fibroblast growth factor receptor 3 ISO mRNA:decreased expression:skin (human) RGD PMID:28359267 RGD:38500206 NCBI chr27:46,958,444...46,974,032
Ensembl chr27:46,957,254...46,973,392
JBrowse link
G MYC MYC proto-oncogene, bHLH transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:25277525 NCBI chr 8:122,282,989...122,288,392
Ensembl chr 8:122,282,630...122,288,384
JBrowse link
G SPA17 sperm autoantigenic protein 17 ISO mRNA,protein:increased expression:nucleus RGD PMID:31218705 RGD:27226803
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 4:81,373,812...81,392,454
Ensembl chr 4:81,373,994...81,392,326
JBrowse link
G LOC103219825 protein patched homolog 1 ISO ClinVar Annotator: match by term: Basal cell carcinoma, multiple ClinVar PMID:22703879 PMID:24728327 PMID:25637381 PMID:25741868 PMID:26467025 More... NCBI chr12:107,580,895...107,656,443
Ensembl chr12:107,590,663...107,652,985
JBrowse link
G PTCH2 patched 2 ISO ClinVar Annotator: match by term: Basal cell carcinoma, multiple ClinVar PMID:25741868 PMID:28492532 PMID:31945512 NCBI chr20:87,953,877...87,975,087
Ensembl chr20:87,953,971...87,974,607
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 4:81,249,851...81,371,486
Ensembl chr 4:81,249,805...81,370,453
JBrowse link
G SMO smoothened, frizzled class receptor ISO ClinVar Annotator: match by term: Basal cell carcinoma, multiple ClinVar PMID:25741868 PMID:28492532 NCBI chr21:97,788,955...97,814,549
Ensembl chr21:97,788,624...97,814,709
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 chr16:4,930,643...4,983,378 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 chr12:108,007,895...108,360,361
Ensembl chr12:108,171,743...108,360,041
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 chr 9:95,703,648...95,737,785 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 chr 9:95,870,098...95,877,345
Ensembl chr 9:95,866,908...95,877,180
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 chr12:107,780,087...107,991,828
Ensembl chr12:107,845,135...107,991,237
JBrowse link
G GLI1 GLI family zinc finger 1 ISO RGD PMID:15308259 RGD:12801443 NCBI chr11:53,371,929...53,384,339
Ensembl chr11:53,375,558...53,385,269
JBrowse link
G GLI2 GLI family zinc finger 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16936257 NCBI chr10:9,302,890...9,561,287
Ensembl chr10:9,304,645...9,369,115
JBrowse link
G LOC103219825 protein patched homolog 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 chr12:107,580,895...107,656,443
Ensembl chr12:107,590,663...107,652,985
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 chr20:87,953,877...87,975,087
Ensembl chr20:87,953,971...87,974,607
JBrowse link
G PTH parathyroid hormone ISO CTD Direct Evidence: marker/mechanism CTD PMID:24803734 NCBI chr 1:51,327,555...51,330,810 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 chr 9:95,752,621...95,775,639
Ensembl chr 9:95,762,074...95,776,073
JBrowse link
G SHH sonic hedgehog signaling molecule ISO RGD
MouseDO
PMID:9115210 RGD:12802345 NCBI chr21:123,929,937...123,942,451
Ensembl chr21:123,932,900...123,942,395
JBrowse link
G SMO smoothened, frizzled class receptor ISO RGD PMID:15308259 RGD:12801443 NCBI chr21:97,788,955...97,814,549
Ensembl chr21:97,788,624...97,814,709
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 chr 9:95,532,228...95,660,594
Ensembl chr 9:95,532,242...95,657,290
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 chr 9:95,671,622...95,686,701
Ensembl chr 9:95,672,648...95,689,247
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 chr 9:95,780,039...95,855,013
Ensembl chr 9:95,811,108...95,855,426
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 LOC103219825 protein patched homolog 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 chr12:107,580,895...107,656,443
Ensembl chr12:107,590,663...107,652,985
JBrowse link
G PTCH2 patched 2 ISO ClinVar Annotator: match by term: Basal cell nevus syndrome 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr20:87,953,877...87,975,087
Ensembl chr20:87,953,971...87,974,607
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 chr 9:95,532,228...95,660,594
Ensembl chr 9:95,532,242...95,657,290
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 chr23:35,693,427...35,782,746
Ensembl chr23:35,699,094...35,782,683
JBrowse link
G AGT angiotensinogen ISO protein:increased expression:serum RGD PMID:19394758 RGD:8548874 NCBI chr25:67,964,840...67,977,006
Ensembl chr25:67,962,401...67,973,324
JBrowse link
G ARHGAP44 Rho GTPase activating protein 44 severity ISO DNA:SNP:intron: (rs72635537) (human) RGD PMID:28510328 RGD:401901274 NCBI chr16:12,125,543...12,328,203
Ensembl chr16:12,125,574...12,330,501
JBrowse link
G BAP1 BRCA1 associated deubiquitinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25231345 PMID:26719535 NCBI chr22:13,765,510...13,774,866
Ensembl chr22:13,764,686...13,774,740
JBrowse link
G BIRC2 baculoviral IAP repeat containing 2 exacerbates ISO mRNA:increased expression:zone of skin (human) RGD PMID:31964418 RGD:153344516 NCBI chr 1:93,721,449...93,746,638 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 chr21:109,495,525...109,690,261 JBrowse link
G BRCA2 BRCA2 DNA repair associated disease_progression ISO DNA:SNP: :rs206118, rs3752447, rs10492396 (human) RGD PMID:25243787 RGD:11344896 NCBI chr 3:11,070,086...11,155,257
Ensembl chr 3:11,071,682...11,155,213
JBrowse link
G CCL2 C-C motif chemokine ligand 2 disease_progression ISO DNA:SNP: :2578A>G (human) RGD PMID:17169533 RGD:9491398 NCBI chr16:27,763,354...27,765,437
Ensembl chr16:27,763,555...27,765,416
JBrowse link
G CD40 CD40 molecule disease_progression ISO RGD PMID:8952530 RGD:8547772 NCBI chr 2:17,753,713...17,765,134
Ensembl chr 2:17,753,394...17,764,566
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 chr11:53,661,877...53,665,688
Ensembl chr11:53,659,336...53,664,861
JBrowse link
G CHAF1B chromatin assembly factor 1 subunit B severity ISO protein:increased expression:skin: RGD PMID:20178651 RGD:9587476 NCBI chr 2:80,379,637...80,409,626
Ensembl chr 2:80,380,425...80,409,687
JBrowse link
G CNR1 cannabinoid receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28131817 NCBI chr13:12,626,259...12,653,253
Ensembl chr13:12,630,270...12,631,688
JBrowse link
G CREB1 cAMP responsive element binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29179997 NCBI chr10:93,316,774...93,395,187
Ensembl chr10:93,316,840...93,388,832
JBrowse link
G CTCF CCCTC-binding factor ISO DNA:mutations:multiple (human) RGD PMID:27974201 RGD:151356739 NCBI chr 5:59,806,753...59,889,534
Ensembl chr 5:59,806,551...59,880,049
JBrowse link
G CTNNB1 catenin beta 1 ISO ClinVar Annotator: match by term: Cutaneous melanoma ClinVar PMID:10192393 PMID:25741868 PMID:26619011 NCBI chr22:2,679,488...2,725,034
Ensembl chr22:2,684,022...2,723,949
JBrowse link
G DDR1 discoidin domain receptor tyrosine kinase 1 treatment
severity
ISO human cells in mouse model; DDR1-IN-1
protein:increased expression:skin lesion (human)
RGD PMID:31271515 RGD:151347864 NCBI chr17:41,564,271...41,583,404
Ensembl chr17:41,564,992...41,575,682
JBrowse link
G DNMT3B DNA methyltransferase 3 beta disease_progression ISO RGD PMID:21081840 RGD:9589074 NCBI chr 2:37,128,635...37,176,033
Ensembl chr 2:37,146,538...37,174,570
JBrowse link
G EML1 EMAP like 1 disease_progression ISO DNA:SNP: :rs10151787 (A>G) RGD PMID:34249459 RGD:597538489 NCBI chr24:77,694,931...77,907,574
Ensembl chr24:77,694,971...77,907,909
JBrowse link
G FANCA FA complementation group A disease_progression ISO DNA:SNP: :rs62068372 (human) RGD PMID:25243787 RGD:11344896 NCBI chr 5:75,073,161...75,149,110
Ensembl chr 5:75,073,358...75,148,591
JBrowse link
G FANCD2 FA complementation group D2 ISO mRNA,protein:increased expression:skin,nucleus: RGD PMID:21697891 RGD:11046262 NCBI chr22:46,072,797...46,141,107
Ensembl chr22:46,072,761...46,140,713
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 7:98,894,261...99,105,955
Ensembl chr 7:98,892,504...99,106,084
JBrowse link
G GPX1 glutathione peroxidase 1 ISO mRNA:increased expression:skin of body (human) RGD PMID:29535818 RGD:152023655 NCBI chr22:10,754,976...10,756,617 JBrowse link
G GRM1 glutamate metabotropic receptor 1 ISO OMIM:608035 | OMIM:612263 MouseDO NCBI chr13:25,380,855...25,816,945 JBrowse link
G HIF1A hypoxia inducible factor 1 subunit alpha ISO protein:increased expression:epidermis (human) RGD PMID:19558170 RGD:8695922 NCBI chr24:38,873,830...38,927,657
Ensembl chr24:38,873,861...38,928,288
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 1:343,613...345,782
Ensembl chr 1:343,506...346,637
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 6:9,320,991...9,338,125
Ensembl chr 6:9,322,550...9,338,263
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 chr10:94,021,002...94,039,997
Ensembl chr10:94,020,818...94,039,975
JBrowse link
G JMJD6 jumonji domain containing 6, arginine demethylase and lysine hydroxylase ISO CTD Direct Evidence: marker/mechanism CTD PMID:30619488 NCBI chr16:44,955,617...44,970,136
Ensembl chr16:44,955,778...44,970,133
JBrowse link
G LOC103224275 glutathione S-transferase Mu 1 susceptibility ISO DNA:deletion:: (human) RGD PMID:11352862 RGD:12792221 NCBI chr20:23,854,969...23,861,634 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 1:352,131...370,276
Ensembl chr 1:355,982...369,633
JBrowse link
G MITF melanocyte inducing transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:22012259 PMID:22080950 NCBI chr22:30,747,747...30,971,951
Ensembl chr22:30,748,440...30,972,168
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 1:94,167,507...94,177,357
Ensembl chr 1:94,167,219...94,176,767
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 5:41,264,382...41,291,657
Ensembl chr 5:41,264,354...41,291,004
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 chr 2:17,867,267...17,874,757
Ensembl chr 2:17,867,177...17,874,712
JBrowse link
G NAIP NLR family apoptosis inhibitory protein exacerbates ISO mRNA:increased expression:zone of skin (human) RGD PMID:31964418 RGD:153344516 NCBI chr 4:65,693,044...65,742,527 JBrowse link
G OCA2 OCA2 melanosomal transmembrane protein susceptibility ISO DNA:missense mutation:cds:p.H615R (rs1800414) (human)
DNA:snps:exon, intron:multiple (human)
DNA:snp:cds:p.R419Q (rs1800407) (human)
RGD PMID:15889046 PMID:19710684 PMID:24617981 RGD:9491818 RGD:9491829 RGD:9491831 NCBI chr26:54,022,346...54,429,991
Ensembl chr26:54,039,197...54,352,774
JBrowse link
G PDCD4 programmed cell death 4 disease_progression ISO mRNA:decreased expression:skin (human) RGD PMID:26150475 RGD:11342032 NCBI chr 9:103,809,005...103,836,402
Ensembl chr 9:103,813,211...103,836,002
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 chr15:10,218,034...10,304,874
Ensembl chr15:10,218,805...10,294,316
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 chr21:93,572,139...93,688,374
Ensembl chr21:93,571,272...93,655,869
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 chr 9:81,308,058...81,412,386
Ensembl chr 9:81,309,099...81,409,146
JBrowse link
G SLC45A2 solute carrier family 45 member 2 ISO ClinVar Annotator: match by term: Malignant melanoma of skin ClinVar PMID:15714523 PMID:17044855 PMID:17999355 PMID:18563784 PMID:18683857 More... NCBI chr 4:33,178,614...33,219,664
Ensembl chr 4:33,179,349...33,219,028
JBrowse link
G STAT3 signal transducer and activator of transcription 3 disease_progression ISO RGD PMID:21876460 RGD:8694297 NCBI chr16:63,877,884...63,957,894
Ensembl chr16:63,922,862...63,957,984
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 6:973,033...996,857
Ensembl chr 6:974,144...995,136
JBrowse link
G TERT telomerase reverse transcriptase ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 4:1,082,894...1,119,373
Ensembl chr 4:1,083,384...1,117,468
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 chr16:7,047,686...7,065,567
Ensembl chr16:7,045,146...7,066,223
JBrowse link
G TP73 tumor protein p73 ISO mRNA:increased expression:skin of body (human) RGD PMID:30420492 RGD:151347580 NCBI chr20:127,958,002...128,035,792
Ensembl chr20:127,958,809...128,013,691
JBrowse link
G TYR tyrosinase susceptibility ISO DNA:missense mutation:cds:p.R402Q(human) RGD PMID:21906913 RGD:8694390 NCBI chr 1:80,330,051...80,444,646 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 chr11:44,062,198...44,126,295
Ensembl chr11:44,065,457...44,166,684
JBrowse link
G XRCC3 X-ray repair cross complementing 3 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr24:81,627,911...81,641,598
Ensembl chr24:81,630,099...81,641,218
JBrowse link
skin squamous cell carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CTCF CCCTC-binding factor ISO DNA:mutations:multiple (human) RGD PMID:27974201 RGD:151356739 NCBI chr 5:59,806,753...59,889,534
Ensembl chr 5:59,806,551...59,880,049
JBrowse link
G DDX5 DEAD-box helicase 5 ISO protein:increased expression:foreskin (human) RGD PMID:22548649 RGD:9850272 NCBI chr16:56,766,669...56,773,767
Ensembl chr16:56,767,186...56,773,464
JBrowse link
G FAT1 FAT atypical cadherin 1 disease_progression ISO associated with Neoplasm Metastasis RGD PMID:33328637 RGD:151347447 NCBI chr 7:132,475,689...132,616,151
Ensembl chr 7:132,483,032...132,616,112
JBrowse link
G FGF10 fibroblast growth factor 10 ISO Pten conditional KO mouse RGD PMID:24582960 RGD:126928134 NCBI chr 4:43,080,387...43,163,355
Ensembl chr 4:43,081,831...43,163,432
JBrowse link
G FYN FYN proto-oncogene, Src family tyrosine kinase ISO MouseDO NCBI chr13:61,988,265...62,218,756
Ensembl chr13:62,159,874...62,219,672
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 chr26:42,620,401...42,631,932
Ensembl chr26:42,621,084...42,631,822
JBrowse link
G PTEN phosphatase and tensin homolog ameliorates ISO RGD PMID:24582960 RGD:126928134 NCBI chr 9:81,308,058...81,412,386
Ensembl chr 9:81,309,099...81,409,146
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15417
    disease of anatomical entity 15080
      integumentary system disease 4059
        integumentary system cancer 248
          skin cancer 248
            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 + 172
            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 15417
    Pathological Conditions, Signs and Symptoms 12061
      Signs and Symptoms 10142
        Neurologic Manifestations 9819
          sensory system disease 6938
            skin disease 4059
              Skin Neoplasms 481
                skin cancer 248
                  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 + 172
                  skin glomus tumor 0
                  skin melanoma + 80
                  skin meningioma 0
                  skin sarcoma + 0
                  sweat gland cancer + 3
paths to the root