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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 Neoplasms
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Accession:DOID:9004464 term browser browse the term
Definition:Tumors or cancer of the SKIN.
Synonyms:exact_synonym: skin neoplasm
 primary_id: MESH:D012878
 alt_id: RDO:0000321
For additional species annotation, visit the Alliance of Genome Resources.


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Skin Neoplasms term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AGER advanced glycosylation end-product specific receptor ISO RGD PMID:18208974 RGD:8695988 NCBI chr 7:24,218,116...24,221,162
Ensembl chr 7:24,218,116...24,228,756
JBrowse link
G AIRE autoimmune regulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:26168014 NCBI chr13:207,148,401...207,158,355
Ensembl chr13:207,148,380...207,158,354
JBrowse link
G AKT1 AKT serine/threonine kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21351258
G ANXA1 annexin A1 ISO RGD PMID:22782996 RGD:7421558 NCBI chr 1:226,414,200...226,431,963
Ensembl chr 1:226,414,307...226,432,287
JBrowse link
G AQP3 aquaporin 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21401805 NCBI chr10:33,045,374...33,050,285
Ensembl chr10:33,045,245...33,051,086
JBrowse link
G ASIP agouti signaling protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:18488027 NCBI chr17:37,542,615...37,718,787 JBrowse link
G CASP10 caspase 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18563783 NCBI chr15:104,858,082...104,895,941
Ensembl chr15:104,858,100...104,894,933
JBrowse link
G CASP8 caspase 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18563783 NCBI chr15:104,923,659...104,948,470
Ensembl chr15:104,923,953...104,948,470
JBrowse link
G CAT catalase disease_progression
treatment
ISO RGD PMID:1747937, PMID:21517247 RGD:9479155, RGD:9479189 NCBI chr 2:26,493,664...26,533,881
Ensembl chr 2:26,487,653...26,581,452
JBrowse link
G CDKN1A cyclin dependent kinase inhibitor 1A ISO RGD PMID:9264409 RGD:8662813 NCBI chr 7:32,354,776...32,363,771
Ensembl chr 7:32,359,455...32,363,761
JBrowse link
G CEBPA CCAAT enhancer binding protein alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:21346772 NCBI chr 6:43,083,200...43,085,884
Ensembl chr 6:43,083,203...43,085,836
JBrowse link
G CSF3 colony stimulating factor 3 ISO CTD Direct Evidence: therapeutic CTD PMID:9774950 NCBI chr12:22,333,445...22,335,949
Ensembl chr12:22,333,445...22,342,163
JBrowse link
G CSNK2A1 casein kinase 2 alpha 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18572023 NCBI chr17:34,692,960...34,748,067 JBrowse link
G CSNK2A2 casein kinase 2 alpha 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18572023 NCBI chr 6:19,975,030...20,016,768
Ensembl chr 6:19,976,927...20,016,741
JBrowse link
G CSNK2B casein kinase 2 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:18572023 NCBI chr 7:23,781,194...23,787,914 JBrowse link
G CTNNB1 catenin beta 1 ISO protein:increased expression:cytosol: RGD PMID:11517342 RGD:10395257 NCBI chr13:25,163,550...25,208,314
Ensembl chr13:25,137,173...25,208,311
JBrowse link
G CYLD CYLD lysine 63 deubiquitinase susceptibility ISO familial cylindromatosis, OMIM:132700;DNA:nonsense mutations RGD PMID:10835629 RGD:1601033 NCBI chr 6:34,058,091...34,121,939
Ensembl chr 6:34,059,941...34,121,272
JBrowse link
G EPHX1 epoxide hydrolase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26295053 NCBI chr10:13,757,489...13,773,071
Ensembl chr10:13,735,170...13,773,071
JBrowse link
G ERBB4 erb-b2 receptor tyrosine kinase 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19718025 NCBI chr15:113,966,573...115,096,984
Ensembl chr15:113,973,037...114,696,375
JBrowse link
G ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:17050553 NCBI chr 6:51,734,318...51,757,508
Ensembl chr 6:51,734,319...51,779,624
JBrowse link
G FLT1 fms related receptor tyrosine kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19718025 NCBI chr11:5,620,698...5,797,095
Ensembl chr11:5,620,700...5,795,264
JBrowse link
G GJA1 gap junction protein alpha 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:7586191 NCBI chr 1:40,988,818...41,002,129
Ensembl chr 1:40,988,515...41,002,137
JBrowse link
G GJB2 gap junction protein beta 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:7586191 NCBI chr11:774,090...781,252 JBrowse link
G GJB5 gap junction protein beta 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:7586191 NCBI chr 6:90,999,514...91,003,301
Ensembl chr 6:91,002,163...91,002,984
JBrowse link
G GLI2 GLI family zinc finger 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10700170 NCBI chr15:30,312,528...30,580,272
Ensembl chr15:30,313,817...30,579,306
JBrowse link
G GYPA glycophorin A (MNS blood group) ISO CTD Direct Evidence: marker/mechanism CTD PMID:17029826 NCBI chr 8:84,037,574...84,067,096 JBrowse link
G HCAR2 hydroxycarboxylic acid receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21655214 NCBI chr14:30,117,014...30,119,293 JBrowse link
G HGF hepatocyte growth factor susceptibility ISO RGD PMID:10919643 RGD:8548621 NCBI chr 9:98,437,771...98,513,573
Ensembl chr 9:98,437,087...98,513,156
JBrowse link
G HIF1A hypoxia inducible factor 1 subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:19276359 NCBI chr 1:190,625,436...190,673,926
Ensembl chr 1:190,625,181...190,674,850
JBrowse link
G HRAS HRas proto-oncogene, GTPase ISO CTD Direct Evidence: marker/mechanism CTD PMID:8330346, PMID:8508502, PMID:9766437, PMID:15958052, PMID:18758463, PMID:24898257, PMID:26558449 NCBI chr 2:299,662...302,539
Ensembl chr 2:299,660...302,501
JBrowse link
G IGF1 insulin like growth factor 1 ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:9135074, PMID:24353828 RGD:8549453 NCBI chr 5:81,762,027...81,909,253
Ensembl chr 5:81,775,970...81,848,037
JBrowse link
G IGF1R insulin like growth factor 1 receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:10365914 NCBI chr 1:137,383,623...137,691,038
Ensembl chr 1:137,387,925...137,690,666
JBrowse link
G IL1A interleukin 1 alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:8435107 NCBI chr 3:43,718,320...43,731,668
Ensembl chr 3:43,718,368...43,731,119
JBrowse link
G IVL involucrin ISO CTD Direct Evidence: marker/mechanism CTD PMID:18572023 NCBI chr 4:96,656,033...96,658,737
Ensembl chr 4:96,656,033...96,658,737
JBrowse link
G KRT1 keratin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18572023 NCBI chr 5:18,012,922...18,018,582
Ensembl chr 5:18,012,925...18,018,582
JBrowse link
G KRT10 keratin 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18572023 NCBI chr12:21,641,263...21,645,642
Ensembl chr12:21,641,271...21,645,636
JBrowse link
G LORICRIN loricrin cornified envelope precursor protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:18572023 NCBI chr 4:96,303,835...96,308,016 JBrowse link
G MAP2K4 mitogen-activated protein kinase kinase 4 treatment ISO RGD PMID:21378167 RGD:7495826 NCBI chr12:56,402,029...56,516,217
Ensembl chr12:56,402,075...56,516,240
JBrowse link
G MMP9 matrix metallopeptidase 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18572023 NCBI chr17:48,179,690...48,186,782
Ensembl chr17:48,175,056...48,188,264
JBrowse link
G NFE2L2 nuclear factor, erythroid 2 like 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18572023 NCBI chr15:82,967,485...83,146,185
Ensembl chr15:82,973,648...83,146,183
JBrowse link
G NME2 NME/NM23 nucleoside diphosphate kinase 2 ISO protein:increased expression:tumor (mouse) RGD PMID:14623877 RGD:5132889 NCBI chr12:27,439,529...27,445,025
Ensembl chr12:27,439,260...27,445,026
JBrowse link
G NOTCH1 notch receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27923803
G NOTCH2 notch receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27923803 NCBI chr 4:100,951,522...101,152,348
Ensembl chr 4:100,951,507...101,150,198
JBrowse link
G NOTCH3 notch receptor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27923803 NCBI chr 2:62,364,507...62,402,348
Ensembl chr 2:62,364,501...62,402,344
JBrowse link
G NOTCH4 notch receptor 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27923803 NCBI chr 7:24,231,293...24,256,281
Ensembl chr 7:24,231,293...24,256,281
JBrowse link
G NPPA natriuretic peptide A ISO CTD Direct Evidence: therapeutic CTD PMID:18004088 NCBI chr 6:71,919,557...71,921,345
Ensembl chr 6:71,919,495...71,932,254
JBrowse link
G NSD1 nuclear receptor binding SET domain protein 1 ISO RGD PMID:22832494 RGD:9590156 NCBI chr 2:80,649,882...80,810,934
Ensembl chr 2:80,654,378...80,809,059
JBrowse link
G ODC1 ornithine decarboxylase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:2591024, PMID:7653998 NCBI chr 3:126,087,013...126,095,644
Ensembl chr 3:126,078,418...126,132,577
JBrowse link
G PLCD1 phospholipase C delta 1 ISO RGD PMID:12805213 RGD:1302551 NCBI chr13:22,851,581...22,872,950
Ensembl chr13:22,851,584...22,865,175
JBrowse link
G POT1 protection of telomeres 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24686849 NCBI chr18:22,885,704...22,981,893
Ensembl chr18:22,827,029...22,981,890
JBrowse link
G PPARD peroxisome proliferator activated receptor delta ISO CTD Direct Evidence: marker/mechanism|therapeutic CTD PMID:19748995, PMID:21159610 NCBI chr 7:31,222,533...31,295,221
Ensembl chr 7:31,222,589...31,295,212
JBrowse link
G PTCH1 patched 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9581815 NCBI chr10:26,627,165...26,703,225
Ensembl chr10:26,627,325...26,703,225
JBrowse link
G PTGS2 prostaglandin-endoperoxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17499752, PMID:19748995, PMID:21159610 NCBI chr 9:127,850,164...127,858,866
Ensembl chr 9:127,850,013...127,858,884
JBrowse link
G PTK2B protein tyrosine kinase 2 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:19718025 NCBI chr14:11,063,662...11,194,196
Ensembl chr14:11,064,492...11,194,194
JBrowse link
G RELA RELA proto-oncogene, NF-kB subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:23069812 NCBI chr 2:6,594,869...6,602,684
Ensembl chr 2:6,593,969...6,603,471
JBrowse link
G SMO smoothened, frizzled class receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:9581815 NCBI chr18:19,450,730...19,478,796
Ensembl chr18:19,450,734...19,479,374
JBrowse link
G SOD2 superoxide dismutase 2 disease_progression ISO CTD Direct Evidence: marker/mechanism|therapeutic CTD
RGD
PMID:11507057, PMID:12032821, PMID:15130280, PMID:20454814, PMID:22009531, PMID:25362851 RGD:8547517, RGD:8547525, RGD:8547532 NCBI chr 1:7,679,352...7,689,564
Ensembl chr 1:7,651,280...7,691,723
JBrowse link
G SP1 Sp1 transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:22009531 NCBI chr 5:18,588,763...18,633,177
Ensembl chr 5:18,588,758...18,630,089
JBrowse link
G STAT3 signal transducer and activator of transcription 3 ISO RGD PMID:18453544, PMID:19137019 RGD:8694289, RGD:8694294 NCBI chr12:20,407,316...20,471,091
Ensembl chr12:20,407,233...20,472,993
JBrowse link
G TGFB1 transforming growth factor beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:8148055 NCBI chr 6:49,332,169...49,348,642
Ensembl chr 6:49,332,169...49,349,048
JBrowse link
G TGFBR1 transforming growth factor beta receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21358634 NCBI chr 1:240,842,735...240,918,267
Ensembl chr 1:240,859,270...240,918,528
JBrowse link
G TP53 tumor protein p53 ISO DNA:polymorphism,mutations:cds:p.R72P(human)
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:12635827, PMID:21123835, PMID:22009531, PMID:27923803 RGD:8547834 NCBI chr12:52,939,643...52,953,786
Ensembl chr12:52,939,643...52,953,819
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 VEGFA vascular endothelial growth factor A ISO RGD PMID:15150105 RGD:7421589 NCBI chr 7:38,746,393...38,762,282
Ensembl chr 7:38,746,052...38,761,038
JBrowse link
G XPA XPA, DNA damage recognition and repair factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:10755388, PMID:16962818 NCBI chr 1:239,532,331...239,568,589
Ensembl chr 1:239,532,246...239,568,649
JBrowse link
G XRCC3 X-ray repair cross complementing 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11059748, PMID:16501254
angiokeratoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GLA galactosidase alpha ISO CTD Direct Evidence: therapeutic CTD PMID:19925601 NCBI chr  X:83,024,582...83,032,273
Ensembl chr  X:83,023,903...83,032,284
JBrowse link
G NAGA alpha-N-acetylgalactosaminidase ISO Kanzaki Disease, OMIM:609242, DNA:point mutation:exon:R329W RGD PMID:8040340 RGD:1600558 NCBI chr 5:6,580,141...6,587,550
Ensembl chr 5:6,571,037...6,590,546
JBrowse link
anogenital venereal wart term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CCL20 C-C motif chemokine ligand 20 ISO protein:decreased expression:skin RGD PMID:17545018 RGD:7483603 NCBI chr15:129,172,743...129,176,069 JBrowse link
G IL12B interleukin 12B treatment ISO RGD PMID:16114559 RGD:7829774 NCBI chr16:64,143,268...64,158,929
Ensembl chr16:64,147,247...64,158,952
JBrowse link
G IL4 interleukin 4 treatment ISO RGD PMID:16114559 RGD:7829774 NCBI chr 2:134,986,817...134,994,365
Ensembl chr 2:134,986,817...134,994,365
JBrowse link
G PTPN11 protein tyrosine phosphatase non-receptor type 11 ISO protein:increased expression:foreskin RGD PMID:18543080 RGD:39128248 NCBI chr14:39,202,165...39,292,041
Ensembl chr14:39,202,168...39,292,018
JBrowse link
G PTPN6 protein tyrosine phosphatase non-receptor type 6 ISO protein:increased expression:foreskin RGD PMID:18543080 RGD:39128248 NCBI chr 5:63,762,109...63,779,086
Ensembl chr 5:63,762,112...63,808,350
JBrowse link
G SERPINF1 serpin family F member 1 disease_progression ISO mRNA, protein:decreased expression:skin of body (human) RGD PMID:23569025 RGD:27226706 NCBI chr12:47,949,004...47,959,471
Ensembl chr12:47,943,051...47,959,472
JBrowse link
basal cell carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ASIP agouti signaling protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:18488027 NCBI chr17:37,542,615...37,718,787 JBrowse link
G BAP1 BRCA1 associated protein 1 ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:25080371, PMID:26719535 RGD:9586038 NCBI chr13:34,544,570...34,553,538
Ensembl chr13:34,544,575...34,553,621
JBrowse link
G CCNH cyclin H ISO ClinVar Annotator: match by term: Basal cell carcinoma, somatic
ClinVar Annotator: match by term: BCC1
ClinVar PMID:8275088, PMID:25741868, PMID:28492532 NCBI chr 2:94,980,938...95,019,053
Ensembl chr 2:94,980,940...95,018,726
JBrowse link
G CLPTM1L CLPTM1 like ISO CTD Direct Evidence: marker/mechanism CTD PMID:19151717 NCBI chr16:79,237,000...79,248,503
Ensembl chr16:79,236,986...79,248,500
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...28,111,545
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 chr15:107,282,926...107,289,103
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 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 8:76,482,022...76,699,351
JBrowse link
G GLI2 GLI family zinc finger 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10700170 NCBI chr15:30,312,528...30,580,272
Ensembl chr15:30,313,817...30,579,306
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 8:83,583,737...83,679,136
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 9:91,506,340...91,511,263
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 5:17,780,928...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...16,320,619
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 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 3:121,542,275...121,549,491
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 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 PALB2 partner and localizer of BRCA2 ISO ClinVar Annotator: match by term: Basal cell carcinoma ClinVar PMID:27878467 NCBI chr 3:22,586,881...22,612,837
Ensembl chr 3:22,586,856...22,612,835
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...117,277,232
JBrowse link
G POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) ISO ClinVar Annotator: match by term: Basal cell epithelioma ClinVar PMID:11709191, PMID:12588800, PMID:15466003, PMID:16427280, PMID:17559086, PMID:17878207, PMID:17881266, PMID:17906881, PMID:19299310, PMID:22323514, PMID:23326386, PMID:25741868, PMID:26013959, PMID:28492532, PMID:30311386 NCBI chr 6:165,212,828...165,222,412
Ensembl chr 6:165,212,833...165,222,409
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 PTCH1 patched 1 susceptibility
disease_progression
ISO ClinVar Annotator: match by term: Basal cell epithelioma
ClinVar Annotator: match by term: Basal cell carcinoma
ClinVar Annotator: match by term: Basal cell carcinoma, somatic
ClinVar Annotator: match by term: BCC1
mRNA:increased expression:skin of body
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
RGD
CTD
PMID:8782823, PMID:9422511, PMID:9581815, PMID:9620294, PMID:10504535, PMID:18854826, PMID:24728327, PMID:25741868, PMID:26950094, PMID:28492532, PMID:30311386 RGD:12801453, RGD:704355 NCBI chr10:26,627,165...26,703,225
Ensembl chr10:26,627,325...26,703,225
JBrowse link
G PTCH2 patched 2 susceptibility ISO ClinVar Annotator: match by term: BCC1
ClinVar Annotator: match by term: Basal cell carcinoma, somatic
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:9931336, PMID:25741868, PMID:28492532 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 9:129,035,739...129,248,578
JBrowse link
G RASA1 RAS p21 protein activator 1 susceptibility ISO ClinVar Annotator: match by term: BCC1
ClinVar Annotator: match by term: Basal cell carcinoma, somatic
DNA:missense mutations:cds: (human)
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
RGD
CTD
PMID:8275088, PMID:25741868, PMID:28492532 RGD:737716 NCBI chr 2:94,879,615...94,992,725
Ensembl chr 2:94,878,911...94,993,479
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 chr11:19,186,759...19,317,690
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 6:144,206,077...144,293,709
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 chr18:2,545,718...2,555,484
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 chr16:19,952,451...20,023,285
JBrowse link
G SMO smoothened, frizzled class receptor susceptibility
disease_progression
ISO ClinVar Annotator: match by term: Basal cell carcinoma, sporadic
ClinVar Annotator: match by term: Carcinoma, Basal Cell
mRNA:increased expression:skin of body
DNA:missense mutations:cds:p.W535L, p.R562Q (human)
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
RGD
CTD
PMID:9422511, PMID:9581815, PMID:10504535, PMID:19726788, PMID:22679179, PMID:25759020, PMID:26950094 RGD:12801453, RGD:704355 NCBI chr18:19,450,730...19,478,796
Ensembl chr18:19,450,734...19,479,374
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...24,067,383
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...113,614,517
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 TP53 tumor protein p53 ISO OMIM NCBI chr12:52,939,643...52,953,786
Ensembl chr12:52,939,643...52,953,819
JBrowse link
G TSPAN1 tetraspanin 1 ISO ClinVar Annotator: match by term: Basal cell epithelioma ClinVar PMID:11709191, PMID:12588800, PMID:15466003, PMID:16427280, PMID:17559086, PMID:17878207, PMID:17881266, PMID:17906881, PMID:19299310, PMID:22323514, PMID:23326386, PMID:25741868, PMID:26013959, PMID:28492532, PMID:30311386 NCBI chr 6:165,224,619...165,229,516
Ensembl chr 6:165,224,641...165,235,150
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 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...78,267,321
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 1:239,532,246...239,568,649
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 chr15:118,335,925...118,452,296
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 5:6,903,496...6,929,083
JBrowse link
Blue Rubber Bleb Nevus Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GLMN glomulin, FKBP associated protein ISO ClinVar Annotator: match by term: Blue rubber bleb nevus ClinVar NCBI chr 4:124,773,957...124,813,336
Ensembl chr 4:124,773,979...124,813,337
JBrowse link
Brooke-Spiegler syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CYLD CYLD lysine 63 deubiquitinase ISO OMIM NCBI chr 6:34,058,091...34,121,939
Ensembl chr 6:34,059,941...34,121,272
JBrowse link
capillary hemangioma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL1A1 collagen type I alpha 1 chain ISO ClinVar Annotator: match by term: Capillary hemangioma ClinVar PMID:25741868, PMID:30311386 NCBI chr12:26,379,087...26,397,180
Ensembl chr12:26,379,090...26,397,003
JBrowse link
G NPC1 NPC intracellular cholesterol transporter 1 ISO ClinVar Annotator: match by term: Capillary hemangiomas ClinVar PMID:25741868 NCBI chr 6:108,403,126...108,450,486
Ensembl chr 6:108,402,877...108,450,990
JBrowse link
Capillary Hemangioma, Infantile term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANTXR1 ANTXR cell adhesion molecule 1 ISO OMIM NCBI chr 3:73,157,744...73,398,379
Ensembl chr 3:73,157,752...73,398,345
JBrowse link
G FLT4 fms related receptor tyrosine kinase 4 ISO OMIM NCBI chr 2:78,076,008...78,115,137
Ensembl chr 2:78,076,080...78,115,137
JBrowse link
G KDR kinase insert domain receptor ISO OMIM NCBI chr 8:41,809,116...41,856,379
Ensembl chr 8:41,809,116...41,856,339
JBrowse link
G MYH9 myosin heavy chain 9 ISO ClinVar Annotator: match by term: Hemangioma, capillary infantile ClinVar NCBI chr 5:11,365,603...11,456,475 JBrowse link
G SLC2A1 solute carrier family 2 member 1 ISO RGD PMID:17554865 RGD:12879502 NCBI chr 6:168,535,398...168,561,170
Ensembl chr 6:168,534,655...168,690,095
JBrowse link
cerebellar angioblastoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G VHL von Hippel-Lindau tumor suppressor ISO ClinVar Annotator: match by term: Cerebellar hemangioblastoma ClinVar PMID:25741868, PMID:28492532 NCBI chr13:66,334,535...66,342,401
Ensembl chr13:66,334,591...66,342,654
JBrowse link
Cutaneous Malignant Melanoma, Susceptibility To, 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G STK11 serine/threonine kinase 11 ISO ClinVar Annotator: match by term: FAMILIAL ATYPICAL MOLE-MALIGNANT MELANOMA SYNDROME
ClinVar Annotator: match by term: Malignant melanoma
ClinVar PMID:10201537, PMID:10208439, PMID:25157968 NCBI chr 2:77,229,888...77,249,322
Ensembl chr 2:77,230,372...77,249,327
JBrowse link
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...117,277,232
JBrowse link
dermatopathia pigmentosa reticularis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC100737030 keratin, type I cytoskeletal 42 ISO OMIM NCBI chr12:21,014,182...21,022,123 JBrowse link
epidermodysplasia verruciformis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TMC6 transmembrane channel like 6 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Epidermodysplasia verruciformis
CTD
ClinVar
PMID:15042430, PMID:17139267, PMID:25741868, PMID:28492532 NCBI chr12:3,825,374...3,848,367
Ensembl chr12:3,825,440...3,844,624
JBrowse link
G TMC8 transmembrane channel like 8 ISO ClinVar Annotator: match by term: Epidermodysplasia verruciformis ClinVar PMID:12426567, PMID:22158547, PMID:25741868, PMID:28492532 NCBI chr12:3,802,344...3,837,413
Ensembl chr12:3,795,893...3,837,363
JBrowse link
Epidermodysplasia Verruciformis 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TMC6 transmembrane channel like 6 ISO OMIM NCBI chr12:3,825,374...3,848,367
Ensembl chr12:3,825,440...3,844,624
JBrowse link
G TMC8 transmembrane channel like 8 ISO ClinVar Annotator: match by term: EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 1 ClinVar PMID:25741868, PMID:28492532 NCBI chr12:3,802,344...3,837,413
Ensembl chr12:3,795,893...3,837,363
JBrowse link
Epidermodysplasia Verruciformis 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TMC8 transmembrane channel like 8 ISO OMIM NCBI chr12:3,802,344...3,837,413
Ensembl chr12:3,795,893...3,837,363
JBrowse link
Epidermodysplasia Verruciformis 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CIB1 calcium and integrin binding 1 ISO OMIM NCBI chr 7:55,794,834...55,798,666
Ensembl chr 7:55,794,834...55,798,590
JBrowse link
Epidermodysplasia Verruciformis 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RHOH ras homolog family member H susceptibility ISO ClinVar Annotator: match by term: EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 4 OMIM
ClinVar
PMID:22850876 NCBI chr 8:31,321,005...31,372,366
Ensembl chr 8:31,321,113...31,372,364
JBrowse link
Epidermodysplasia Verruciformis 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IL7 interleukin 7 susceptibility ISO ClinVar Annotator: match by term: EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 5 OMIM
ClinVar
PMID:25981006 NCBI chr 4:57,677,895...57,744,713
Ensembl chr 4:57,685,069...57,753,797
JBrowse link
Familial Cutaneous Collagenoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LEMD3 LEM domain containing 3 ISO DNA:transition mutation:intron: 1522+1G>A(human) RGD PMID:17223882 RGD:11553841 NCBI chr 5:29,596,334...29,672,704
Ensembl chr 5:29,596,334...29,673,875
JBrowse link
familial melanoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CDK4 cyclin dependent kinase 4 ISO OMIM NCBI chr 5:23,039,206...23,041,959
Ensembl chr 5:23,038,889...23,042,061
JBrowse link
G FANCA FA complementation group A ISO ClinVar Annotator: match by term: Cutaneous malignant melanoma 5 ClinVar PMID:28492532 NCBI chr 6:253,207...300,159
Ensembl chr 6:253,224...300,155
JBrowse link
G KLC1 kinesin light chain 1 ISO ClinVar Annotator: match by term: Cutaneous malignant melanoma 6 ClinVar PMID:11059748
G MC1R melanocortin 1 receptor ISO OMIM NCBI chr 6:181,225...182,187
Ensembl chr 6:181,225...182,187
JBrowse link
G MITF melanocyte inducing transcription factor susceptibility ISO ClinVar Annotator: match by term: MELANOMA AND RENAL CELL CARCINOMA, SUSCEPTIBILITY TO
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:2440678, PMID:22012259, PMID:22080950, PMID:22158021, PMID:23167872, PMID:23774529, PMID:23787126, PMID:23802662, PMID:24033266, PMID:24290354, PMID:24352080, PMID:24406078, PMID:24660985, PMID:24767713, PMID:25407435, PMID:25741868, PMID:25803691, PMID:25975176, PMID:26650189, PMID:26775776, PMID:26800492, PMID:26999813, PMID:27473757, PMID:27680874, PMID:28125078, PMID:28376192, PMID:28492532, PMID:29706638, PMID:30414346 NCBI chr13:51,177,356...51,422,096
Ensembl chr13:51,178,203...51,422,096
JBrowse link
G P14ARF p14ARF protein ISO OMIM NCBI chr 1:200,774,496...200,799,149
Ensembl chr 1:200,774,496...200,798,854
JBrowse link
G POT1 protection of telomeres 1 susceptibility ISO ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10
ClinVar Annotator: match by term: Hereditary cutaneous melanoma
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:23502782, PMID:24686846, PMID:24686849, PMID:25244922, PMID:25482530, PMID:25741868, PMID:25877891, PMID:27239034, PMID:27329137, PMID:27528712, PMID:27869160, PMID:28393830, PMID:28393832, PMID:28492532, PMID:28853721, PMID:29036293, PMID:29523635, PMID:29693246 NCBI chr18:22,885,704...22,981,893
Ensembl chr18:22,827,029...22,981,890
JBrowse link
G SPIRE2 spire type actin nucleation factor 2 ISO ClinVar Annotator: match by term: Cutaneous malignant melanoma 5 ClinVar PMID:28492532 NCBI chr 6:211,480...246,109
Ensembl chr 6:211,487...243,636
JBrowse link
G TCF25 transcription factor 25 ISO ClinVar Annotator: match by term: Cutaneous malignant melanoma 5 ClinVar PMID:28492532 NCBI chr 6:186,068...208,841
Ensembl chr 6:183,451...208,903
JBrowse link
G TERT telomerase reverse transcriptase ISO OMIM NCBI chr16:79,258,591...79,276,421
Ensembl chr16:79,258,591...79,276,421
JBrowse link
G TSPAN31 tetraspanin 31 ISO ClinVar Annotator: match by term: Cutaneous Malignant Melanoma, Dominant
ClinVar Annotator: match by term: Hereditary cutaneous melanoma
ClinVar Annotator: match by term: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 3
ClinVar Annotator: match by term: Cutaneous malignant melanoma 5
ClinVar PMID:20668451, PMID:21520333, PMID:23718828, PMID:24728327, PMID:24755471, PMID:25318351, PMID:25741868, PMID:25980754, PMID:26252490, PMID:26467025, PMID:28166811, PMID:28492532, PMID:29917049 NCBI chr 5:23,029,325...23,038,987
Ensembl chr 5:23,029,306...23,038,983
JBrowse link
G TYR tyrosinase ISO ClinVar Annotator: match by term: MELANOMA AND RENAL CELL CARCINOMA, SUSCEPTIBILITY TO ClinVar PMID:666627, PMID:1429711, PMID:1820207, PMID:7704033, PMID:9158138, PMID:10766867, PMID:17952075, PMID:18326704, PMID:18488027, PMID:18488028, PMID:18925668, PMID:19208379, PMID:19533789, PMID:21541274, PMID:23504663, PMID:25216246, PMID:25741868, PMID:30311386 NCBI chr 9:22,517,047...22,604,290
Ensembl chr 9:22,517,047...22,604,290
JBrowse link
G XRCC3 X-ray repair cross complementing 3 ISO OMIM
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 susceptibility ISO ClinVar Annotator: match by term: Multiple self healing squamous epithelioma
ClinVar Annotator: match by term: MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:2647812, PMID:5173258, PMID:8499949, PMID:16928994, PMID:19542084, PMID:21358634, PMID:23884466, PMID:24033266, PMID:24793577, PMID:25110237, PMID:25741868, PMID:25834947, PMID:26848186, PMID:26877057, PMID:27611364, PMID:28492532 NCBI chr 1:240,842,735...240,918,267
Ensembl chr 1:240,859,270...240,918,528
JBrowse link
hemangioblastoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HIF1A hypoxia inducible factor 1 subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:15341671 NCBI chr 1:190,625,436...190,673,926
Ensembl chr 1:190,625,181...190,674,850
JBrowse link
G NDRG1 N-myc downstream regulated 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15341671 NCBI chr 4:8,014,445...8,069,335
Ensembl chr 4:8,014,446...8,069,333
JBrowse link
Hereditary Leiomyomatosis and Renal Cell Cancer term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CHML CHM like Rab escort protein ISO ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer ClinVar PMID:29909963 NCBI chr10:11,835,472...11,845,833
Ensembl chr10:11,835,582...11,845,804
JBrowse link
G CHRM3 cholinergic receptor muscarinic 3 ISO ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer ClinVar PMID:29909963 NCBI chr14:51,818,625...52,363,662
Ensembl chr14:51,828,052...51,830,077
JBrowse link
G EXO1 exonuclease 1 ISO ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer ClinVar PMID:29909963 NCBI chr10:15,317,555...15,360,593
Ensembl chr10:15,317,581...15,359,839
JBrowse link
G FH fumarate hydratase ISO OMIM NCBI chr10:12,404,143...12,431,843
Ensembl chr10:12,404,176...12,431,801
JBrowse link
G FMN2 formin 2 ISO ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer ClinVar PMID:29909963
G GREM2 gremlin 2, DAN family BMP antagonist ISO ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer ClinVar PMID:29909963 NCBI chr10:11,884,198...11,904,249
Ensembl chr10:11,885,280...11,885,780
JBrowse link
G KMO kynurenine 3-monooxygenase ISO ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer ClinVar PMID:29909963 NCBI chr10:12,442,877...12,489,417
Ensembl chr10:12,431,982...12,490,409
JBrowse link
G MAP1LC3C microtubule associated protein 1 light chain 3 gamma ISO ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer ClinVar PMID:29909963 NCBI chr10:15,371,182...15,379,067
Ensembl chr10:15,372,879...15,382,939
JBrowse link
G PLD5 phospholipase D family member 5 ISO ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer ClinVar PMID:29909963 NCBI chr10:15,420,600...15,723,890
Ensembl chr10:15,419,652...15,723,241
JBrowse link
G RGS7 regulator of G protein signaling 7 ISO ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer ClinVar PMID:29909963 NCBI chr10:11,950,897...12,322,382
Ensembl chr10:11,950,900...12,322,360
JBrowse link
G RYR2 ryanodine receptor 2 ISO ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer ClinVar PMID:29909963 NCBI chr14:53,652,140...54,406,691
Ensembl chr14:53,652,245...54,406,355
JBrowse link
G WDR64 WD repeat domain 64 ISO ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer ClinVar PMID:29909963 NCBI chr10:11,745,830...11,835,287
Ensembl chr10:11,746,559...11,835,219
JBrowse link
G ZP4 zona pellucida glycoprotein 4 ISO ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer ClinVar PMID:29909963 NCBI chr14:53,577,138...53,584,544
Ensembl chr14:53,577,135...53,584,546
JBrowse link
large congenital melanocytic nevus term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HRAS HRas proto-oncogene, GTPase ISO OMIM NCBI chr 2:299,662...302,539
Ensembl chr 2:299,660...302,501
JBrowse link
G LRRC56 leucine rich repeat containing 56 ISO ClinVar Annotator: match by term: MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC ClinVar PMID:12210337, PMID:14608654, PMID:16155195, PMID:16170316, PMID:16329078, PMID:16372351, PMID:16443854, PMID:16835863, PMID:17211612, PMID:17250658, PMID:17384584, PMID:17979197, PMID:18039947, PMID:18042262, PMID:18470943, PMID:19213030, PMID:19255327, PMID:19382114, PMID:19773371, PMID:21403836, PMID:21438134, PMID:21495179, PMID:21850009, PMID:22317973, PMID:22499344, PMID:22683711, PMID:22926243, PMID:23093928, PMID:23406027, PMID:23429430, PMID:24033266, PMID:24169525, PMID:24224811, PMID:25157968, PMID:25326635, PMID:25346259, PMID:25741868, PMID:25914166, PMID:26619011, PMID:27195699, PMID:27589201, PMID:28027064, PMID:28390077, PMID:28492532, PMID:29073591, PMID:29493581, PMID:168335863 NCBI chr 2:303,836...323,701
Ensembl chr 2:304,429...323,700
JBrowse link
G NRAS NRAS proto-oncogene, GTPase ISO OMIM NCBI chr 4:105,845,913...105,853,769
Ensembl chr 4:105,845,872...105,858,227
JBrowse link
leiomyoma cutis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FH fumarate hydratase ISO ClinVar Annotator: match by term: Multiple cutaneous leiomyomas ClinVar PMID:11865300, PMID:12761039, PMID:16575891, PMID:21929734, PMID:22069215, PMID:22595425, PMID:22703879, PMID:24728327, PMID:25741868, PMID:27037871, PMID:28492532, PMID:29909963, PMID:30967997 NCBI chr10:12,404,143...12,431,843
Ensembl chr10:12,404,176...12,431,801
JBrowse link
Malignant Granular Cell Tumor term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BRD7 bromodomain containing 7 ISO ClinVar Annotator: match by term: malignant granular cell tumor ClinVar NCBI chr 6:34,478,008...34,519,622
Ensembl chr 6:34,478,012...34,519,664
JBrowse link
Merkel cell carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 8:879,151...895,912
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 4:12,455,119...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...51,931,455
JBrowse link
Muir-Torre syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MLH1 mutL homolog 1 ISO OMIM NCBI chr13:21,791,276...21,877,789
Ensembl chr13:21,791,201...21,877,757
JBrowse link
G MSH2 mutS homolog 2 ISO OMIM NCBI chr 3:93,082,958...93,163,556
Ensembl chr 3:93,081,219...93,163,628
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 OMIM NCBI chr12:51,479,968...51,495,540 JBrowse link
Nasopalpebral Lipoma Coloboma Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ZDBF2 zinc finger DBF-type containing 2 ISO ClinVar Annotator: match by term: Nasopalpebral lipoma coloboma syndrome ClinVar PMID:23636874, PMID:27139419 NCBI chr15:109,563,445...109,593,858
Ensembl chr15:109,563,440...109,589,700
JBrowse link
neurilemmomatosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LZTR1 leucine zipper like transcription regulator 1 susceptibility ISO ClinVar Annotator: match by term: Schwannomatosis
ClinVar Annotator: match by term: Schwannomatosis 2
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:16356934, PMID:18072270, PMID:19582488, PMID:22105938, PMID:23401320, PMID:24362817, PMID:25335493, PMID:25480913, PMID:25741868, PMID:25795793, PMID:27472264, PMID:27856782, PMID:27921248, PMID:28295212, PMID:28492532, PMID:29384852, PMID:29409008, PMID:30368668, PMID:30442762, PMID:30442766, PMID:30481304, PMID:30859559, PMID:31128261, PMID:31438995, PMID:31825158 NCBI chr14:50,576,413...50,590,397
Ensembl chr14:50,569,746...50,589,787
JBrowse link
G NF2 neurofibromin 2 ISO OMIM NCBI chr14:46,653,869...46,726,421
Ensembl chr14:46,653,902...46,731,999
JBrowse link
G SMARCB1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 ISO OMIM NCBI chr14:49,874,981...49,906,043
Ensembl chr14:49,874,984...49,906,048
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:22382802, PMID:28492532 NCBI chr10:27,078,115...27,472,347
Ensembl chr10:27,078,113...27,472,310
JBrowse link
G FANCC FA complementation group C ISO ClinVar Annotator: match by term: Gorlin syndrome ClinVar PMID:17703323, PMID:22382802, PMID:28492532 NCBI chr10:26,796,546...27,055,271 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 5:22,732,516...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 OMIM NCBI chr10:26,627,165...26,703,225
Ensembl chr10:26,627,325...26,703,225
JBrowse link
G PTCH2 patched 2 ISO OMIM 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 SHH sonic hedgehog signaling molecule ISO RGD PMID:9115210 RGD:12802345 NCBI chr18:2,546,202...2,555,484
Ensembl chr18:2,545,718...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 chr18:19,450,734...19,479,374
JBrowse link
G SUFU SUFU negative regulator of hedgehog signaling ISO OMIM NCBI chr14:113,500,001...113,628,064
Ensembl chr14:113,500,842...113,614,517
JBrowse link
Palmoplantar Hyperkeratosis with Squamous Cell Carcinoma of Skin and Sex Reversal term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RSPO1 R-spondin 1 ISO OMIM NCBI chr 6:93,664,839...93,690,328
Ensembl chr 6:93,665,138...93,685,197
JBrowse link
pilomatrixoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CTNNB1 catenin beta 1 ISO OMIM NCBI chr13:25,163,550...25,208,314
Ensembl chr13:25,137,173...25,208,311
JBrowse link
G MUTYH mutY DNA glycosylase ISO ClinVar Annotator: match by term: MUTYH-associated polyposis
ClinVar Annotator: match by term: EPITHELIOMA CALCIFICANS OF MALHERBE
ClinVar PMID:2084865, PMID:3561487, PMID:11818965, PMID:12393807, PMID:12606733, PMID:12853198, PMID:15188161, PMID:15236166, PMID:15366000, PMID:15635083, PMID:15890374, PMID:15931596, PMID:15987719, PMID:16134147, PMID:16140997, PMID:16207212, PMID:16287072, PMID:16338133, PMID:16455870, PMID:16492921, PMID:16557584, PMID:16616356, PMID:16890597, PMID:16941501, PMID:17081686, PMID:17122612, PMID:17161978, PMID:17219385, PMID:17273161, PMID:17368238, PMID:17369389, PMID:17489848, PMID:17581577, PMID:17674103, PMID:17703316, PMID:17874208, PMID:17931073, PMID:17949294, PMID:17956577, PMID:18091433, PMID:18301448, PMID:18414213, PMID:18422726, PMID:18495334, PMID:18506705, PMID:18515411, PMID:18534194, PMID:18564191, PMID:18787472, PMID:18992148, PMID:19032956, PMID:19245865, PMID:19279422, PMID:19394335, PMID:19506731, PMID:19527492, PMID:19531215, PMID:19725997, PMID:19732775, PMID:19793053, PMID:19806110, PMID:19836313, PMID:19953527, PMID:19998059, PMID:20063264, PMID:20418187, PMID:20618354, PMID:20663686, PMID:20725929, PMID:20848659, PMID:21063410, PMID:21171015, PMID:21178863, PMID:21443744, PMID:21520333, PMID:21815886, PMID:21952991, PMID:22158503, PMID:22266422, PMID:22297469, PMID:22473953, PMID:22538434, PMID:22703879, PMID:22744763, PMID:22773231, PMID:22865608, PMID:22926731, PMID:22976915, PMID:23035301, PMID:23108399, PMID:23322991, PMID:23361220, PMID:23507534, PMID:23561487, PMID:23605219, PMID:23625202, PMID:23729658, PMID:23805267, PMID:24033266, PMID:24082139, PMID:24278394, PMID:24444654, PMID:24470512, PMID:24569162, PMID:24691292, PMID:24728327, PMID:24763289, PMID:24799981, PMID:24953332, PMID:25368107, PMID:25525159, PMID:25590978, PMID:25637381, PMID:25741868, PMID:25820570, PMID:25892863, PMID:25980754, PMID:26446593, PMID:26467025, PMID:26556299, PMID:26673696, PMID:26681312, PMID:26689913, PMID:26694661, PMID:26822237, PMID:26845104, PMID:26902849, PMID:27145315, PMID:27194394, PMID:27705013, PMID:27829682, PMID:27870730, PMID:28135145, PMID:28141798, PMID:28152038, PMID:28251689, PMID:28492532, PMID:28533537, PMID:28634180, PMID:29330641, PMID:29406563, PMID:29478780, PMID:30311386, PMID:30487145 NCBI chr 6:166,002,853...166,012,191 JBrowse link
G OVOL1 ovo like transcriptional repressor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26873447 NCBI chr 2:6,526,679...6,538,992
Ensembl chr 2:6,526,668...6,538,921
JBrowse link
G OVOL2 ovo like zinc finger 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26873447 NCBI chr17:26,417,793...26,451,707
Ensembl chr17:26,417,795...26,451,928
JBrowse link
Pulmonary Venoocclusive Disease 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EIF2AK4 eukaryotic translation initiation factor 2 alpha kinase 4 ISO OMIM NCBI chr 1:131,244,818...131,355,240
Ensembl chr 1:131,245,463...131,355,224
JBrowse link
Schopf-Schulz-Passarge syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G WNT10A Wnt family member 10A ISO OMIM NCBI chr15:120,925,204...120,939,032
Ensembl chr15:120,925,201...120,938,430
JBrowse link
Sclerotylosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SMARCAD1 SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1 ISO OMIM NCBI chr 8:125,410,221...125,488,471
Ensembl chr 8:125,409,507...125,488,436
JBrowse link
sebaceous gland neoplasm term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CDKN1A cyclin dependent kinase inhibitor 1A ISO RGD PMID:12354803 RGD:8662839 NCBI chr 7:32,354,776...32,363,771
Ensembl chr 7:32,359,455...32,363,761
JBrowse link
G LEF1 lymphoid enhancer binding factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16565724 NCBI chr 8:113,824,511...113,944,078
Ensembl chr 8:113,824,547...113,944,078
JBrowse link
seborrheic keratosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANXA1 annexin A1 ISO RGD PMID:8919037 RGD:7421562 NCBI chr 1:226,414,200...226,431,963
Ensembl chr 1:226,414,307...226,432,287
JBrowse link
G FGFR3 fibroblast growth factor receptor 3 ISO ClinVar Annotator: match by term: Keratosis Seborrheica ClinVar PMID:1908846, PMID:7773297, PMID:8589699, PMID:8858131, PMID:9677066, PMID:10073901, PMID:10471491, PMID:10696568, PMID:11038465, PMID:11241532, PMID:11529856, PMID:11879084, PMID:12833394, PMID:15772091, PMID:16841094, PMID:17384684, PMID:18642369, PMID:19381019, PMID:19749790, PMID:25157968, PMID:25606676, PMID:25741868, PMID:26619011, PMID:28492532, PMID:30311386 NCBI chr 8:879,151...894,968
Ensembl chr 8:879,151...895,912
JBrowse link
G PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha ISO OMIM NCBI chr13:117,193,935...117,282,151
Ensembl chr13:117,180,544...117,277,232
JBrowse link
skin benign neoplasm term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HRAS HRas proto-oncogene, GTPase ISO associated with Nevus, Sebaceous of Jadassohn;DNA:mutation:cds:c.37G>C(p.G13R)(human) RGD PMID:22683711 RGD:11098548 NCBI chr 2:299,662...302,539
Ensembl chr 2:299,660...302,501
JBrowse link
G PTCH1 patched 1 ISO ClinVar Annotator: match by term: Tumor of the skin ClinVar PMID:30311386 NCBI chr10:26,627,165...26,703,225
Ensembl chr10:26,627,325...26,703,225
JBrowse link
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 chr14:76,205,224...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 chr14:111,307,610...111,351,712
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 chr14:50,528,954...50,558,663
JBrowse link
G PTCH1 patched 1 ISO ClinVar Annotator: match by term: Skin cancer ClinVar PMID:30311386 NCBI chr10:26,627,165...26,703,225
Ensembl chr10:26,627,325...26,703,225
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...46,173,944
JBrowse link
skin melanoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AGT angiotensinogen ISO protein:increased expression:serum RGD PMID:19394758 RGD:8548874 NCBI chr14:59,643,030...59,656,835
Ensembl chr14:59,643,292...59,672,428
JBrowse link
G AKT1 AKT serine/threonine kinase 1 ISO ClinVar Annotator: match by term: Cutaneous melanoma
ClinVar Annotator: match by term: Malignant melanoma of skin
ClinVar PMID:17611497, PMID:18256540, PMID:18392055, PMID:18504432, PMID:18611285, PMID:19418217, PMID:19487299, PMID:19853286, PMID:20233444, PMID:20453058, PMID:21464312, PMID:21512767, PMID:21793738, PMID:22538770, PMID:22610119, PMID:22722201, PMID:22722839, PMID:22980975, PMID:23237847, PMID:23348505, PMID:23700467, PMID:23728071, PMID:23934607, PMID:24190505, PMID:24265152, PMID:24657128, PMID:25157968, PMID:26619011, PMID:28492532
G ARAF A-Raf proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: Malignant melanoma of skin ClinVar PMID:24569458, PMID:26619011 NCBI chr  X:42,078,202...42,090,250
Ensembl chr  X:42,078,195...42,090,247
JBrowse link
G B2M beta-2-microglobulin ISO ClinVar Annotator: match by term: Malignant melanoma of skin ClinVar PMID:26619011 NCBI chr 1:126,837,721...126,844,043
Ensembl chr 1:126,835,143...126,981,582
JBrowse link
G BAP1 BRCA1 associated protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25231345, PMID:26719535 NCBI chr13:34,544,570...34,553,538
Ensembl chr13:34,544,575...34,553,621
JBrowse link
G BCL2L12 BCL2 like 12 ISO ClinVar Annotator: match by term: Malignant melanoma of skin ClinVar PMID:26619011 NCBI chr 6:54,706,453...54,715,127
Ensembl chr 6:54,707,237...54,715,127
JBrowse link
G BRAF B-Raf proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: Malignant melanoma of skin
ClinVar Annotator: match by term: Cutaneous melanoma
ClinVar PMID:2493360, PMID:2872605, PMID:8042262, PMID:12068308, PMID:12198537, PMID:12438234, PMID:12447372, PMID:12460918, PMID:12460919, PMID:12619120, PMID:12644542, PMID:12670889, PMID:12794760, PMID:12960123, PMID:14513361, PMID:14602780, PMID:14612909, PMID:14678966, PMID:14679157, PMID:14688025, PMID:15001635, PMID:15016963, PMID:15035987, PMID:15126572, PMID:15181070, PMID:15342696, PMID:15356022, PMID:15386408, PMID:15687339, PMID:15753399, PMID:15998781, PMID:16015629, PMID:16174717, PMID:16187918, PMID:16439621, PMID:16474404, PMID:16772349, PMID:17096326, PMID:17119447, PMID:17311103, PMID:17374713, PMID:17488796, PMID:17603483, PMID:17704260, PMID:17785355, PMID:18039235, PMID:18042262, PMID:18060073, PMID:18186519, PMID:18368129, PMID:18398503, PMID:18413255, PMID:18794803, PMID:19001320, PMID:19010912, PMID:19018267, PMID:19206169, PMID:19238210, PMID:19376813, PMID:19383316, PMID:19404918, PMID:19537845, PMID:19561230, PMID:19735675, PMID:19913317, PMID:20008640, PMID:20130576, PMID:20141835, PMID:20301365, PMID:20350999, PMID:20413299, PMID:20619739, PMID:20630094, PMID:20735442, PMID:20818844, PMID:20823850, PMID:20857202, PMID:21107320, PMID:21107323, PMID:21129611, PMID:21156289, PMID:21163703, PMID:21426297, PMID:21483012, PMID:21502544, PMID:21639808, PMID:21641636, PMID:21683865, PMID:21750866, PMID:21784453, PMID:21975775, PMID:22038996, PMID:22048237, PMID:22113612, PMID:22180495, PMID:22281684, PMID:22310681, PMID:22351686, PMID:22356324, PMID:22389471, PMID:22448344, PMID:22495831, PMID:22536370, PMID:22586120, PMID:22608338, PMID:22649091, PMID:22663011, PMID:22735384, PMID:22743296, PMID:22773810, PMID:22798288, PMID:22805292, PMID:22892241, PMID:22972589, PMID:22997239, PMID:23020132, PMID:23031422, PMID:23093928, PMID:23248257, PMID:23251002, PMID:23273605, PMID:23302800, PMID:23325582, PMID:23352452, PMID:23470635, PMID:23524406, PMID:23549875, PMID:23614898, PMID:23685455, PMID:23715574, PMID:23812671, PMID:23833300, PMID:23845441, PMID:23907581, PMID:23918947, PMID:24033266, PMID:24107445, PMID:24112392, PMID:24163374, PMID:24388723, PMID:24446311, PMID:24451042, PMID:24508103, PMID:24512911, PMID:24576830, PMID:24583796, PMID:24586605, PMID:24594804, PMID:24670642, PMID:24710085, PMID:24717435, PMID:24918823, PMID:24926260, PMID:25024077, PMID:25037139, PMID:25079330, PMID:25157968, PMID:25265492, PMID:25265494, PMID:25348715, PMID:25370471, PMID:25399551, PMID:25463315, PMID:25741868, PMID:25950823, PMID:25989278, PMID:26582644, PMID:26619011, PMID:26678033, PMID:27404270, PMID:27480103, PMID:28492532, PMID:28854169, PMID:28891408, PMID:29084544, PMID:29493581, PMID:29595366, PMID:29925953, PMID:30138938, PMID:30732632, PMID:31779674, PMID:31891627 NCBI chr18:8,957,963...9,132,558
Ensembl chr18:8,957,959...9,132,553
JBrowse link
G BRCA2 BRCA2 DNA repair associated disease_progression ISO DNA:SNP: :rs206118, rs3752447, rs10492396 (human) RGD PMID:25243787 RGD:11344896 NCBI chr11:8,805,950...8,858,128 JBrowse link
G CCL2 chemokine (C-C motif) ligand 2 disease_progression ISO DNA:SNP: :2578A>G (human) RGD PMID:17169533 RGD:9491398 NCBI chr12:40,798,109...40,800,013
Ensembl chr12:40,798,109...40,800,028
JBrowse link
G CD40 CD40 molecule disease_progression ISO RGD PMID:8952530 RGD:8547772 NCBI chr17:48,286,116...48,298,188
Ensembl chr17:48,286,029...48,298,528
JBrowse link
G CDK4 cyclin dependent kinase 4 ISO ClinVar Annotator: match by term: Malignant melanoma of skin ClinVar PMID:5377176, PMID:7652577, PMID:8528263, PMID:8968104, PMID:9228064, PMID:9425228, PMID:11756559, PMID:15880589, PMID:21801156, PMID:22804906, PMID:23384855, PMID:23546221, PMID:24256466, PMID:25157968, PMID:25741868, PMID:26619011, PMID:28492532, PMID:29774366 NCBI chr 5:23,039,206...23,041,959
Ensembl chr 5:23,038,889...23,042,061
JBrowse link
G CHAF1B chromatin assembly factor 1 subunit B severity ISO protein:increased expression:skin: RGD PMID:20178651 RGD:9587476 NCBI chr13:200,048,096...200,074,902
Ensembl chr13:200,048,131...200,072,556
JBrowse link
G CNOT9 CCR4-NOT transcription complex subunit 9 ISO ClinVar Annotator: match by term: Malignant melanoma of skin ClinVar PMID:26619011 NCBI chr15:120,590,354...120,622,203
Ensembl chr15:120,590,641...120,669,825
JBrowse link
G CNR1 cannabinoid receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28131817 NCBI chr 1:56,466,022...56,493,275
Ensembl chr 1:56,466,027...56,492,602
JBrowse link
G CREB1 cAMP responsive element binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29179997 NCBI chr15:110,705,548...110,773,037
Ensembl chr15:110,697,408...110,771,755
JBrowse link
G CREBBP CREB binding protein ISO ClinVar Annotator: match by term: Malignant melanoma of skin ClinVar PMID:21390126, PMID:21680795, PMID:21796119, PMID:22832583, PMID:23334668, PMID:23685749, PMID:23778141, PMID:26087898, PMID:26619011, PMID:27257180, PMID:28492532, PMID:29551561 NCBI chr 3:38,388,366...38,530,243
Ensembl chr 3:38,388,547...38,530,230
JBrowse link
G CRNKL1 crooked neck pre-mRNA splicing factor 1 ISO ClinVar Annotator: match by term: Malignant melanoma of skin ClinVar PMID:26619011 NCBI chr17:28,079,541...28,111,871
Ensembl chr17:28,077,707...28,111,545
JBrowse link
G CTNNB1 catenin beta 1 ISO ClinVar Annotator: match by term: Cutaneous melanoma
ClinVar Annotator: match by term: Malignant melanoma of skin
ClinVar PMID:9065402, PMID:9065403, PMID:9294210, PMID:9500465, PMID:9927029, PMID:10027390, PMID:10192393, PMID:10398436, PMID:10435629, PMID:10655994, PMID:10666372, PMID:11351304, PMID:11930117, PMID:11950921, PMID:12124804, PMID:15133491, PMID:19234609, PMID:23265383, PMID:24788118, PMID:25157968, PMID:26619011, PMID:26822237 NCBI chr13:25,163,550...25,208,314
Ensembl chr13:25,137,173...25,208,311
JBrowse link
G DNMT3B DNA methyltransferase 3 beta disease_progression ISO RGD PMID:21081840 RGD:9589074 NCBI chr17:36,345,715...36,386,076
Ensembl chr17:36,332,801...36,386,074
JBrowse link
G ERBB2 erb-b2 receptor tyrosine kinase 2 ISO ClinVar Annotator: match by term: Malignant melanoma of skin ClinVar PMID:18413839, PMID:22046346, PMID:23220880, PMID:25157968, PMID:26619011 NCBI chr12:22,591,621...22,621,384
Ensembl chr12:22,590,725...22,621,351
JBrowse link
G ERBB4 erb-b2 receptor tyrosine kinase 4 ISO ClinVar Annotator: match by term: Cutaneous melanoma ClinVar PMID:19718025 NCBI chr15:113,966,573...115,096,984
Ensembl chr15:113,973,037...114,696,375
JBrowse link
G EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit ISO ClinVar Annotator: match by term: Malignant melanoma of skin ClinVar PMID:23023262, PMID:24563539, PMID:26619011 NCBI chr 9:109,384,976...109,450,943
Ensembl chr 9:109,384,995...109,450,941
JBrowse link
G FANCA FA complementation group A disease_progression ISO DNA:SNP: :rs62068372 (human) RGD PMID:25243787 RGD:11344896 NCBI chr 6:253,207...300,159
Ensembl chr 6:253,224...300,155
JBrowse link
G FANCD2 FA complementation group D2 ISO mRNA,protein:increased expression:skin,nucleus: RGD PMID:21697891 RGD:11046262 NCBI chr13:66,241,951...66,308,601
Ensembl chr13:66,241,673...66,310,436
JBrowse link
G FBXW7 F-box and WD repeat domain containing 7 ISO ClinVar Annotator: match by term: Malignant melanoma of skin ClinVar PMID:25741868, PMID:26619011 NCBI chr 8:76,482,027...76,699,354
Ensembl chr 8:76,482,022...76,699,351
JBrowse link
G GNA11 G protein subunit alpha 11 ISO ClinVar Annotator: match by term: Cutaneous melanoma ClinVar PMID:1328859, PMID:2549426, PMID:21083380, PMID:21444680, PMID:22733540, PMID:22808163, PMID:24141786, PMID:25157968, PMID:26619011 NCBI chr 2:75,439,405...75,456,855
Ensembl chr 2:75,437,201...75,457,092
JBrowse link
G GNAQ G protein subunit alpha q ISO ClinVar Annotator: match by term: Cutaneous melanoma ClinVar PMID:1328859, PMID:2549426, PMID:18719078, PMID:19078957, PMID:21083380, PMID:22253748, PMID:22653968, PMID:22733540, PMID:22808163, PMID:25157968 NCBI chr 1:230,607,469...230,906,988
Ensembl chr 1:230,605,229...230,907,675
JBrowse link
G GNAS GNAS complex locus ISO ClinVar Annotator: match by term: Malignant melanoma of skin ClinVar PMID:1594625, PMID:1944469, PMID:2549426, PMID:3720010, PMID:7739708, PMID:8766942, PMID:9626141, PMID:12727968, PMID:12970318, PMID:15126527, PMID:16507630, PMID:21835143, PMID:23536913, PMID:24855271, PMID:25157968, PMID:26619011 NCBI chr17:58,985,580...59,053,022
Ensembl chr17:58,998,981...59,053,021
JBrowse link
G HIF1A hypoxia inducible factor 1 subunit alpha ISO protein:increased expression:epidermis (human) RGD PMID:19558170 RGD:8695922 NCBI chr 1:190,625,436...190,673,926
Ensembl chr 1:190,625,181...190,674,850
JBrowse link
G HRAS HRas proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Malignant melanoma of skin
ClinVar Annotator: match by term: Cutaneous melanoma
ClinVar PMID:1904555, PMID:2999610, PMID:3510078, PMID:3537694, PMID:6092966, PMID:6330729, PMID:7177195, PMID:8960317, PMID:11150980, PMID:12210337, PMID:12835555, PMID:14608654, PMID:16155195, PMID:16170316, PMID:16329078, PMID:16372351, PMID:16443854, PMID:16835863, PMID:16881968, PMID:16969868, PMID:17054105, PMID:17211612, PMID:17250658, PMID:17384584, PMID:17412879, PMID:17979197, PMID:18039947, PMID:18042262, PMID:18247425, PMID:18470943, PMID:18978862, PMID:19206176, PMID:19213030, PMID:19255327, PMID:19371735, PMID:19382114, PMID:19669404, PMID:19773371, PMID:20660566, PMID:20859122, PMID:20979192, PMID:21438134, PMID:21495179, PMID:21834037, PMID:21850009, PMID:22087699, PMID:22256804, PMID:22317973, PMID:22499344, PMID:22683711, PMID:22726224, PMID:22926243, PMID:23093928, PMID:23096712, PMID:23406027, PMID:23429430, PMID:23751039, PMID:23884457, PMID:24006476, PMID:24033266, PMID:24129065, PMID:24169525, PMID:24224811, PMID:24390138, PMID:25157968, PMID:25326635, PMID:25695684, PMID:25741868, PMID:25914166, PMID:26619011, PMID:27195699, PMID:27589201, PMID:28027064, PMID:28139825, PMID:28390077, PMID:28492532, PMID:29073591, PMID:29493581, PMID:31775759, PMID:168335863 NCBI chr 2:299,662...302,539
Ensembl chr 2:299,660...302,501
JBrowse link
G ICAM1 intercellular adhesion molecule 1 disease_progression ISO DNA:missense mutation:exon:p.R241G (human) RGD PMID:16313300 RGD:8547698 NCBI chr 2:69,097,136...69,107,722
Ensembl chr 2:69,097,122...69,108,205
JBrowse link
G IDH1 isocitrate dehydrogenase (NADP(+)) 1 ISO ClinVar Annotator: match by term: Malignant melanoma of skin ClinVar PMID:18772396, PMID:19657110, PMID:19798509, PMID:19818334, PMID:20946881, PMID:21352804, PMID:21446021, PMID:22160010, PMID:22397365, PMID:22417203, PMID:22898539, PMID:23558169, PMID:24606448, PMID:25043048, PMID:25157968, PMID:25741868, PMID:26619011 NCBI chr15:111,341,153...111,362,330
Ensembl chr15:111,341,152...111,362,280
JBrowse link
G JMJD6 jumonji domain containing 6, arginine demethylase and lysine hydroxylase ISO CTD Direct Evidence: marker/mechanism CTD PMID:30619488 NCBI chr12:4,809,014...4,819,853
Ensembl chr12:4,808,691...4,818,062
JBrowse link
G KIT KIT proto-oncogene, receptor tyrosine kinase ISO ClinVar Annotator: match by term: Cutaneous melanoma
ClinVar Annotator: match by term: Malignant melanoma of skin
ClinVar PMID:7513208, PMID:7530509, PMID:8589724, PMID:9438854, PMID:9657776, PMID:10224103, PMID:10362788, PMID:10680913, PMID:11073817, PMID:11276010, PMID:11505412, PMID:11526490, PMID:12697809, PMID:12960119, PMID:14977822, PMID:15685537, PMID:15790786, PMID:16046538, PMID:16226710, PMID:16638875, PMID:16731599, PMID:16741525, PMID:16751810, PMID:16908931, PMID:16954519, PMID:17259998, PMID:17363509, PMID:17372901, PMID:17489795, PMID:17699867, PMID:17824795, PMID:18421059, PMID:18448188, PMID:18510589, PMID:18936790, PMID:18955458, PMID:18980976, PMID:19164557, PMID:19671763, PMID:19737976, PMID:19812602, PMID:19865100, PMID:19996579, PMID:20088873, PMID:20147452, PMID:20545949, PMID:20736294, PMID:21131919, PMID:21159146, PMID:21569090, PMID:21642685, PMID:21689725, PMID:21690468, PMID:21969494, PMID:22160160, PMID:22261812, PMID:22355224, PMID:22357254, PMID:22932406, PMID:23106360, PMID:23149070, PMID:23375402, PMID:23582185, PMID:23598963, PMID:23714533, PMID:23775962, PMID:24531699, PMID:24661573, PMID:24755198, PMID:25157968, PMID:26619011, PMID:26822237, PMID:27771813, PMID:28492532 NCBI chr 8:41,402,334...41,492,306
Ensembl chr 8:41,402,043...41,493,735
JBrowse link
G KNSTRN kinetochore localized astrin (SPAG5) binding protein ISO ClinVar Annotator: match by term: Malignant melanoma of skin ClinVar PMID:26619011 NCBI chr 1:130,916,956...130,930,172
Ensembl chr 1:130,893,983...130,940,350
JBrowse link
G KRAS KRAS proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Malignant melanoma of skin ClinVar PMID:2278970, PMID:3122217, PMID:12460918, PMID:15696205, PMID:16361624, PMID:16434492, PMID:16618717, PMID:18316791, PMID:18794081, PMID:19075190, PMID:19114683, PMID:19679400, PMID:20921462, PMID:20921465, PMID:21228335, PMID:22407852, PMID:22722830, PMID:23325582, PMID:25157968, PMID:26619011 NCBI chr 5:48,508,774...48,546,260
Ensembl chr 5:48,508,790...48,549,346
JBrowse link
G LRRC56 leucine rich repeat containing 56 ISO ClinVar Annotator: match by term: Malignant melanoma of skin
ClinVar Annotator: match by term: Cutaneous melanoma
ClinVar PMID:1904555, PMID:2999610, PMID:3510078, PMID:3537694, PMID:6092966, PMID:6330729, PMID:7177195, PMID:8960317, PMID:11150980, PMID:12210337, PMID:12835555, PMID:14608654, PMID:16155195, PMID:16170316, PMID:16329078, PMID:16372351, PMID:16443854, PMID:16835863, PMID:16881968, PMID:16969868, PMID:17054105, PMID:17211612, PMID:17250658, PMID:17384584, PMID:17412879, PMID:17979197, PMID:18039947, PMID:18042262, PMID:18247425, PMID:18470943, PMID:18978862, PMID:19206176, PMID:19213030, PMID:19255327, PMID:19371735, PMID:19382114, PMID:19669404, PMID:19773371, PMID:20660566, PMID:20859122, PMID:20979192, PMID:21438134, PMID:21495179, PMID:21834037, PMID:21850009, PMID:22087699, PMID:22256804, PMID:22317973, PMID:22499344, PMID:22683711, PMID:22726224, PMID:22926243, PMID:23093928, PMID:23096712, PMID:23406027, PMID:23429430, PMID:23751039, PMID:23884457, PMID:24006476, PMID:24033266, PMID:24129065, PMID:24169525, PMID:24224811, PMID:24390138, PMID:25157968, PMID:25326635, PMID:25695684, PMID:25741868, PMID:25914166, PMID:26619011, PMID:27195699, PMID:27589201, PMID:28027064, PMID:28139825, PMID:28390077, PMID:28492532, PMID:29073591, PMID:29493581, PMID:31775759, PMID:168335863 NCBI chr 2:303,836...323,701
Ensembl chr 2:304,429...323,700
JBrowse link
G MAP2K1 mitogen-activated protein kinase kinase 1 ISO ClinVar Annotator: match by term: Malignant melanoma of skin
ClinVar Annotator: match by term: Cutaneous melanoma
ClinVar PMID:7651428, PMID:17366577, PMID:17551924, PMID:17704260, PMID:18060073, PMID:18632602, PMID:19411838, PMID:19915144, PMID:21107320, PMID:21383288, PMID:22197931, PMID:22327936, PMID:22588879, PMID:22622578, PMID:23444215, PMID:23569304, PMID:23614898, PMID:24033266, PMID:24448821, PMID:24803665, PMID:25049390, PMID:25157968, PMID:25741868, PMID:26619011, PMID:28049852, PMID:28492532, PMID:29643386, PMID:30763456 NCBI chr 1:164,381,892...164,469,313
Ensembl chr 1:164,381,845...164,471,226
JBrowse link
G MAP2K2 mitogen-activated protein kinase kinase 2 ISO ClinVar Annotator: match by term: Malignant melanoma of skin
ClinVar Annotator: match by term: Cutaneous melanoma
ClinVar PMID:18042262, PMID:24265153, PMID:24265154, PMID:26619011 NCBI chr 2:74,626,739...74,651,352
Ensembl chr 2:74,626,658...74,651,348
JBrowse link
G MITF melanocyte inducing transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:22080950 NCBI chr13:51,177,356...51,422,096
Ensembl chr13:51,178,203...51,422,096
JBrowse link
G MMP1 matrix metallopeptidase 1 disease_progression ISO DNA:SNPs, haplotype:promoter:multiple
DNA:polymorphisms, haplotypes:promoter:multiple
RGD PMID:20655738, PMID:22198560 RGD:8549726, RGD:8549727 NCBI chr 9:33,411,738...33,420,205
Ensembl chr 9:33,411,065...33,454,000
JBrowse link
G MMP2 matrix metallopeptidase 2 severity ISO mRNA:increased expression:skin RGD PMID:12404291, PMID:18251742, PMID:20966734 RGD:13204786, RGD:8657055, RGD:8657075 NCBI chr 6:30,059,247...30,087,031
Ensembl chr 6:30,058,594...30,086,982
JBrowse link
G MMP9 matrix metallopeptidase 9 disease progression ISO DNA:SNP, missense mutations:promoter, cds:-1562C>T,p.R279Q, p.P574R (human) RGD PMID:12404291, PMID:17346338 RGD:13204786, RGD:8547886 NCBI chr17:48,179,690...48,186,782
Ensembl chr17:48,175,056...48,188,264
JBrowse link
G MTOR mechanistic target of rapamycin kinase ISO ClinVar Annotator: match by term: Malignant melanoma of skin ClinVar PMID:24631838, PMID:26018084, PMID:26619011, PMID:27159400, PMID:27830187 NCBI chr 6:71,286,989...71,412,913
Ensembl chr 6:71,286,989...71,412,888
JBrowse link
G MYC MYC proto-oncogene, bHLH transcription factor ISO ClinVar Annotator: match by term: Malignant melanoma of skin ClinVar PMID:25157968, PMID:26619011 NCBI chr 4:12,455,141...12,460,360
Ensembl chr 4:12,455,119...12,461,078
JBrowse link
G NRAS NRAS proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Cutaneous melanoma
ClinVar Annotator: match by term: Malignant melanoma of skin
ClinVar PMID:1654209, PMID:2278970, PMID:2407301, PMID:2674680, PMID:2989702, PMID:3102434, PMID:3122217, PMID:6587382, PMID:8120410, PMID:10598665, PMID:10821536, PMID:12460918, PMID:12727991, PMID:14508525, PMID:14982869, PMID:15046639, PMID:15831708, PMID:15899789, PMID:15951308, PMID:16273091, PMID:16291983, PMID:16434492, PMID:16518851, PMID:17332249, PMID:17384584, PMID:17517660, PMID:17699718, PMID:18375819, PMID:18390968, PMID:18633438, PMID:18668139, PMID:18794081, PMID:18948947, PMID:18952898, PMID:19047918, PMID:19075190, PMID:19657110, PMID:19775298, PMID:19880792, PMID:19966803, PMID:20130576, PMID:20149136, PMID:20179705, PMID:20406486, PMID:20619739, PMID:20736745, PMID:21079152, PMID:21107323, PMID:21263000, PMID:21305640, PMID:21576590, PMID:21729679, PMID:21829508, PMID:22144181, PMID:22407852, PMID:22499344, PMID:22718121, PMID:22761467, PMID:22773810, PMID:22962325, PMID:23076151, PMID:23134356, PMID:23392294, PMID:23400451, PMID:23414587, PMID:23431193, PMID:23515407, PMID:23538902, PMID:23569304, PMID:23614898, PMID:24006476, PMID:24033266, PMID:24148783, PMID:24284627, PMID:24370118, PMID:24671188, PMID:24918823, PMID:25157968, PMID:25348872, PMID:25695684, PMID:26619011, PMID:26821351, PMID:27050078, PMID:28098151, PMID:28492532, PMID:28594414, PMID:28780248 NCBI chr 4:105,845,913...105,853,769
Ensembl chr 4:105,845,872...105,858,227
JBrowse link
G OCA2 OCA2 melanosomal transmembrane protein susceptibility ISO DNA:snp:cds:p.R419Q (rs1800407) (human)
DNA:snps:exon, intron:multiple (human)
DNA:missense mutation:cds:p.H615R (rs1800414) (human)
RGD PMID:15889046, PMID:19710684, PMID:24617981 RGD:9491818, RGD:9491829, RGD:9491831 NCBI chr15:56,657,648...56,869,920 JBrowse link
G P14ARF p14ARF protein ISO DNA:frameshift mutations, deletions:cds:multiple (human)
ClinVar Annotator: match by term: Cutaneous melanoma
ClinVar Annotator: match by term: Malignant melanoma of skin
CTD Direct Evidence: marker/mechanism
DNA:missense mutation:exon:p.P48L (human)
RGD
ClinVar
CTD
PMID:7566978, PMID:7647780, PMID:7666917, PMID:7780957, PMID:7987387, PMID:8012957, PMID:8153634, PMID:8521414, PMID:8552158, PMID:8595405, PMID:8668202, PMID:8723678, PMID:8755727, PMID:9324288, PMID:9425228, PMID:9751050, PMID:9823374, PMID:9856841, PMID:10338331, PMID:10389768, PMID:10491434, PMID:10508477, PMID:10869234, PMID:10956390, PMID:11477665, PMID:11500805, PMID:11579459, PMID:11687599, PMID:11807902, PMID:12072543, PMID:14679123, PMID:15140233, PMID:15146471, PMID:15860862, PMID:15937071, PMID:16234564, PMID:16896043, PMID:16905682, PMID:17397031, PMID:17992122, PMID:18981015, PMID:19260062, PMID:19360740, PMID:20132244, PMID:20340136, PMID:20653773, PMID:21150883, PMID:21325014, PMID:21462282, PMID:21609436, PMID:21801156, PMID:22080950, PMID:22841127, PMID:24659262, PMID:25157968, PMID:25356972, PMID:25741868, PMID:25780468, PMID:26381259, PMID:26467025, PMID:26619011, PMID:26658419, PMID:26681309, PMID:26775776, PMID:27181379, PMID:28146043, PMID:28492532, PMID:28592523, PMID:28830827, PMID:29983899, PMID:30311386, PMID:31775759 RGD:8552276, RGD:8552302 NCBI chr 1:200,774,496...200,799,149
Ensembl chr 1:200,774,496...200,798,854
JBrowse link
G PDGFRA platelet derived growth factor receptor alpha ISO ClinVar Annotator: match by term: Cutaneous melanoma ClinVar PMID:24132921 NCBI chr 8:40,966,568...41,021,440
Ensembl chr 8:40,967,493...41,021,442
JBrowse link
G PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha ISO ClinVar Annotator: match by term: Malignant melanoma of skin
ClinVar Annotator: match by term: Cutaneous melanoma
ClinVar PMID:15016963, PMID:15254419, PMID:15520168, PMID:15608678, PMID:15647370, PMID:15805248, PMID:16353168, PMID:16906227, PMID:16930767, PMID:17376864, PMID:17673550, PMID:18371219, PMID:18676830, PMID:18725974, PMID:19029981, PMID:19223544, PMID:19366826, PMID:19513541, PMID:19671852, PMID:19903786, PMID:20177704, PMID:20453058, PMID:20619739, PMID:21430269, PMID:21558396, PMID:21824802, PMID:22162582, PMID:22162589, PMID:22271473, PMID:22658544, PMID:22729222, PMID:22729223, PMID:22729224, PMID:23066039, PMID:23100325, PMID:23408298, PMID:23888070, PMID:24033266, PMID:24265155, PMID:24782230, PMID:25157968, PMID:25741868, PMID:26266975, PMID:26266985, PMID:26619011, PMID:26822237, PMID:27626068, PMID:27631024, PMID:28492532, PMID:29446767, PMID:31568861, PMID:31775759 NCBI chr13:117,193,935...117,282,151
Ensembl chr13:117,180,544...117,277,232
JBrowse link
G PIK3R1 phosphoinositide-3-kinase regulatory subunit 1 ISO ClinVar Annotator: match by term: Malignant melanoma of skin ClinVar PMID:19962457, PMID:25157968, PMID:26619011 NCBI chr16:46,434,757...46,523,626
Ensembl chr16:46,434,873...46,523,609
JBrowse link
G PPP6C protein phosphatase 6 catalytic subunit ISO ClinVar Annotator: match by term: Malignant melanoma of skin ClinVar PMID:26619011 NCBI chr 1:265,872,961...265,898,146
Ensembl chr 1:265,870,477...265,898,124
JBrowse link
G PTEN phosphatase and tensin homolog ISO ClinVar Annotator: match by term: Malignant melanoma of skin
ClinVar Annotator: match by term: Cutaneous melanoma
ClinVar PMID:1097835, PMID:9467011, PMID:9915974, PMID:10866302, PMID:10978354, PMID:11476841, PMID:11504908, PMID:11875759, PMID:16007494, PMID:16773562, PMID:17526801, PMID:17942903, PMID:18767981, PMID:19457929, PMID:20085938, PMID:20300775, PMID:21659347, PMID:21822720, PMID:21824802, PMID:21828076, PMID:22266152, PMID:22320991, PMID:22327138, PMID:22595938, PMID:23335809, PMID:23399955, PMID:23470840, PMID:24778394, PMID:25157968, PMID:25527629, PMID:25741868, PMID:26619011, PMID:26798346, PMID:27477328, PMID:27535533, PMID:28475857, PMID:28492532, PMID:29359449, PMID:29706350 NCBI chr14:99,929,590...100,021,619 JBrowse link
G RAC1 Rac family small GTPase 1 ISO ClinVar Annotator: match by term: Cutaneous melanoma
ClinVar Annotator: match by term: Malignant melanoma of skin
ClinVar PMID:25056119, PMID:26619011 NCBI chr 3:4,781,776...4,803,510
Ensembl chr 3:4,781,771...4,803,687
JBrowse link
G RAF1 Raf-1 proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: Malignant melanoma of skin
ClinVar Annotator: match by term: Cutaneous melanoma
ClinVar PMID:1760348, PMID:10064593, PMID:12077328, PMID:16523510, PMID:17603482, PMID:17603483, PMID:19437094, PMID:19568997, PMID:19953625, PMID:20052757, PMID:20876176, PMID:21396583, PMID:21440552, PMID:21784453, PMID:22389993, PMID:22826437, PMID:23312806, PMID:23321623, PMID:23613113, PMID:23737487, PMID:23877478, PMID:24033266, PMID:24775816, PMID:24777450, PMID:25706034, PMID:25741868, PMID:26446362, PMID:26619011, PMID:26903553, PMID:28492532, PMID:29084544, PMID:29493581, PMID:30311386 NCBI chr13:68,581,128...68,657,911
Ensembl chr13:68,580,812...68,657,829
JBrowse link
G SF3B1 splicing factor 3b subunit 1 ISO ClinVar Annotator: match by term: Malignant melanoma of skin ClinVar PMID:23634996, PMID:26619011 NCBI chr15:101,274,968...101,338,018
Ensembl chr15:101,191,854...101,338,023
JBrowse link
G SF3B2 splicing factor 3b subunit 2 ISO ClinVar Annotator: match by term: Malignant melanoma of skin ClinVar PMID:26619011 NCBI chr 2:6,279,039...6,295,550
Ensembl chr 2:6,279,048...6,294,640
JBrowse link
G SLC45A2 solute carrier family 45 member 2 ISO ClinVar Annotator: match by term: Malignant melanoma of skin ClinVar PMID:15714523, PMID:17044855, PMID:17999355, PMID:18563784, PMID:18683857, PMID:19578363, PMID:28492532 NCBI chr16:19,958,315...20,002,198
Ensembl chr16:19,952,451...20,023,285
JBrowse link
G SNAPC5 small nuclear RNA activating complex polypeptide 5 ISO ClinVar Annotator: match by term: Cutaneous melanoma ClinVar PMID:22197931 NCBI chr 1:164,459,111...164,475,053
Ensembl chr 1:164,466,973...164,474,978
JBrowse link
G STAT3 signal transducer and activator of transcription 3 disease_progression ISO RGD PMID:21876460 RGD:8694297 NCBI chr12:20,407,316...20,471,091
Ensembl chr12:20,407,233...20,472,993
JBrowse link
G STK11 serine/threonine kinase 11 ISO ClinVar Annotator: match by term: FAMILIAL ATYPICAL MOLE-MALIGNANT MELANOMA SYNDROME ClinVar PMID:10201537, PMID:10208439, PMID:25157968 NCBI chr 2:77,229,888...77,249,322
Ensembl chr 2:77,230,372...77,249,327
JBrowse link
G STK19 serine/threonine kinase 19 ISO ClinVar Annotator: match by term: Malignant melanoma of skin ClinVar PMID:26619011 NCBI chr 7:24,060,226...24,067,398
Ensembl chr 7:24,059,452...24,067,383
JBrowse link
G TP53 tumor protein p53 ISO ClinVar Annotator: match by term: Malignant melanoma of skin
ClinVar Annotator: match by term: Cutaneous melanoma
ClinVar PMID:1349175, PMID:1359493, PMID:1565143, PMID:1565144, PMID:1569604, PMID:1631137, PMID:1631151, PMID:1673792, PMID:1683921, PMID:1686725, PMID:1915267, PMID:1978757, PMID:2046748, PMID:2113594, PMID:2826609, PMID:7651740, PMID:7707106, PMID:7732013, PMID:7881428, PMID:7887414, PMID:8023157, PMID:8062826, PMID:8080050, PMID:8099841, PMID:8118819, PMID:8164043, PMID:8364550, PMID:8401536, PMID:8423216, PMID:8425176, PMID:8479749, PMID:8527048, PMID:8633021, PMID:8688334, PMID:8718514, PMID:8825920, PMID:8829627, PMID:8869100, PMID:9049183, PMID:9242456, PMID:9290701, PMID:9364015, PMID:9407971, PMID:9472631, PMID:9546439, PMID:9569050, PMID:9572492, PMID:9598730, PMID:9632751, PMID:9662334, PMID:9667734, PMID:9825943, PMID:10064694, PMID:10411893, PMID:10432928, PMID:10519380, PMID:10567903, PMID:10589545, PMID:10616528, PMID:10713666, PMID:10797439, PMID:10864200, PMID:10914716, PMID:10922393, PMID:11051239, PMID:11139324, PMID:11180592, PMID:11313981, PMID:11370630, PMID:11429705, PMID:11479205, PMID:11593407, PMID:11782540, PMID:11793474, PMID:11896595, PMID:11920788, PMID:11920959, PMID:12007217, PMID:12124823, PMID:12509279, PMID:12672316, PMID:12702523, PMID:12726864, PMID:12826609, PMID:12909720, PMID:12917626, PMID:14559903, PMID:14584079, PMID:15004724, PMID:15017592, PMID:15037740, PMID:15077194, PMID:15138567, PMID:15161705, PMID:15381368, PMID:15390294, PMID:15541116, PMID:15580553, PMID:15607980, PMID:15607981, PMID:15722483, PMID:15825182, PMID:15850016, PMID:15925506, PMID:15951970, PMID:15977174, PMID:15982667, PMID:15993273, PMID:16209708, PMID:16258005, PMID:16288208, PMID:16312222, PMID:16401470, PMID:16474844, PMID:16489069, PMID:16494995, PMID:16508005, PMID:16633321, PMID:16682957, PMID:16736287, PMID:16778209, PMID:16793544, PMID:16818505, PMID:16827139, PMID:16861262, PMID:17015838, PMID:17311302, PMID:17390010, PMID:17401428, PMID:17417627, PMID:17427234, PMID:17530187, PMID:17540308, PMID:17541742, PMID:17567834, PMID:17572079, PMID:17606709, PMID:17636407, PMID:17724467, PMID:17875924, PMID:18208484, PMID:18307025, PMID:18453682, PMID:18511570, PMID:18555592, PMID:18685109, PMID:18978813, PMID:19012332, PMID:19101993, PMID:19147582, PMID:19171880, PMID:19336573, PMID:19378321, PMID:19462533, PMID:19468865, PMID:19556618, PMID:19834951, PMID:19850740, PMID:19913028, PMID:20013323, PMID:20028212, PMID:20113312, PMID:20127978, PMID:20128691, PMID:20195489, PMID:20234365, PMID:20407015, PMID:20505364, PMID:20506564, PMID:20516128, PMID:20522432, PMID:20593220, PMID:20693561, PMID:20805372, PMID:20972454, PMID:21059199, PMID:21159183, PMID:21187651, PMID:21232794, PMID:21305319, PMID:21343334, PMID:21356188, PMID:21484931, PMID:21519010, PMID:21522129, PMID:21535297, PMID:21552135, PMID:21601526, PMID:21626334, PMID:21674059, PMID:21760960, PMID:21760996, PMID:21761402, PMID:22006311, PMID:22109999, PMID:22110706, PMID:22114072, PMID:22186996, PMID:22198284, PMID:22233476, PMID:22265402, PMID:22427690, PMID:22540896, PMID:22672556, PMID:22713868, PMID:22811390, PMID:22844452, PMID:22887876, PMID:22899716, PMID:22915647, PMID:22919068, PMID:22923379, PMID:22999923, PMID:23031740, PMID:23124483, PMID:23161690, PMID:23172776, PMID:23246812, PMID:23259501, PMID:23263379, PMID:23264849, PMID:23265383, PMID:23315175, PMID:23334668, PMID:23340422, PMID:23355100, PMID:23538418, PMID:23625637, PMID:23630318, PMID:23667202, PMID:23713777, PMID:23792586, PMID:23894400, PMID:23950206, PMID:23967324, PMID:24033266, PMID:24038938, PMID:24076587, PMID:24381225, PMID:24384472, PMID:24395441, PMID:24487413, PMID:24501221, PMID:24573247, PMID:24603336, PMID:24641375, PMID:24651012, PMID:24651015, PMID:24677579, PMID:24702488, PMID:24728327, PMID:24744791, PMID:24766216, PMID:24810334, PMID:25123297, PMID:25157968, PMID:25293557, PMID:25339994, PMID:25428789, PMID:25433984, PMID:25503501, PMID:25525159, PMID:25584008, PMID:25584637, PMID:25587027, PMID:25619955, PMID:25741868, PMID:25757876, PMID:25787918, PMID:25896519, PMID:25925845, PMID:25927356, PMID:25952993, PMID:25980754, PMID:26014290, PMID:26022348, PMID:26024390, PMID:26205489, PMID:26230955, PMID:26270727, PMID:26467025, PMID:26497680, PMID:26556299, PMID:26585234, PMID:26619011, PMID:26681312, PMID:26787237, PMID:26822237, PMID:26845104, PMID:26878390, PMID:26911350, PMID:26976419, PMID:27022024, PMID:27077130, PMID:27149858, PMID:27179933, PMID:27189670, PMID:27276561, PMID:27328919, PMID:27374712, PMID:27458004, PMID:27463065, PMID:27489289, PMID:27493922, PMID:27523101, PMID:27533082, PMID:27616075, PMID:27680515, PMID:27683180, PMID:27724982, PMID:27730344, PMID:27895058, PMID:27959731, PMID:28135145, PMID:28152038, PMID:28279309, PMID:28369373, PMID:28453743, PMID:28472496, PMID:28477316, PMID:28492532, PMID:28724667, PMID:28802053, PMID:28861920, PMID:28975465, PMID:29025599, PMID:29070607, PMID:29126202, PMID:29324801, PMID:29416011, PMID:29478780, PMID:29489754, PMID:29752822, PMID:29753700, PMID:29979965, PMID:30076369, PMID:30087429, PMID:30128536, PMID:30216591, PMID:30224644, PMID:30297838, PMID:30306255, PMID:30311369, PMID:30327374, PMID:30352134, PMID:30450585, PMID:30709381, PMID:30720243, PMID:30840781, PMID:31775759 NCBI chr12:52,939,643...52,953,786
Ensembl chr12:52,939,643...52,953,819
JBrowse link
G TYR tyrosinase susceptibility ISO DNA:missense mutation:cds:p.R402Q(human) RGD PMID:21906913 RGD:8694390 NCBI chr 9:22,517,047...22,604,290
Ensembl chr 9:22,517,047...22,604,290
JBrowse link
G VDR vitamin D receptor susceptibility
no_association
ISO DNA:missense mutation, silent mutation: :p,M1T, p.I352 (c.1056T>C) (rs2228570, rs731236) (human)
DNA:SNPs: :multiple
RGD PMID:16990805, PMID:19615888, PMID:22576141 RGD:8157629, RGD:8158071, RGD:8158075 NCBI chr 5:78,205,807...78,266,505
Ensembl chr 5:78,205,810...78,267,321
JBrowse link
skin papilloma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CCL20 C-C motif chemokine ligand 20 ISO protein:decreased expression:skin RGD PMID:21715145 RGD:7483622 NCBI chr15:129,172,743...129,176,069 JBrowse link
G CLU clusterin ISO RGD PMID:11085517 RGD:8746700 NCBI chr14:11,336,585...11,352,569
Ensembl chr14:11,336,590...11,352,475
JBrowse link
G NRG1 neuregulin 1 ISO DNA:hypermethylation: RGD PMID:31892232 RGD:39456089 NCBI chr15:52,625,550...53,688,003
Ensembl chr15:52,627,334...53,688,332
JBrowse link
G TLR2 toll like receptor 2 ISO protein:increased expression,altered expression:cytoplasm,membrane, nucleus: RGD PMID:24617037 RGD:8553046 NCBI chr 8:75,416,257...75,428,370
Ensembl chr 8:75,411,991...75,446,850
JBrowse link
skin squamous cell carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 chr12:14,571,310...14,601,576
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 chr 1:130,916,956...130,930,172
Ensembl chr 1:130,893,983...130,940,350
JBrowse link
Sweat Gland Neoplasms term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TP63 tumor protein p63 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20740144 NCBI chr13:127,115,990...127,347,082
Ensembl chr13:127,116,104...127,347,075
JBrowse link
Trichilemmoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HRAS HRas proto-oncogene, GTPase ISO associated with Nevus sebaceous; DNA:mutation:exon:c.37G>C (p.G13R)(human) RGD PMID:24890286 RGD:12738400 NCBI chr 2:299,662...302,539
Ensembl chr 2:299,660...302,501
JBrowse link
Trichoepithelioma, Multiple Familial, 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CYLD CYLD lysine 63 deubiquitinase ISO ClinVar Annotator: match by term: Trichoepithelioma multiple familial 2 ClinVar NCBI chr 6:34,058,091...34,121,939
Ensembl chr 6:34,059,941...34,121,272
JBrowse link
von Hippel-Lindau disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CCND1 cyclin D1 ISO OMIM NCBI chr 2:3,621,242...3,633,380
Ensembl chr 2:3,621,246...3,633,296
JBrowse link
G EPAS1 endothelial PAS domain protein 1 ISO protein:increased expression:kidney: RGD PMID:22299048 RGD:11041600 NCBI chr 3:94,167,759...94,253,662
Ensembl chr 3:94,165,815...94,254,079
JBrowse link
G MMP3 matrix metallopeptidase 3 onset ISO RGD PMID:19551141 RGD:7241233 NCBI chr 9:33,446,969...33,453,995
Ensembl chr 9:33,411,065...33,454,000
JBrowse link
G SLC18A1 solute carrier family 18 member A1 ISO mRNA:increased expression:tumor (human) RGD PMID:16189177 RGD:5131200 NCBI chr14:4,243,553...4,279,341
Ensembl chr14:4,243,557...4,278,989
JBrowse link
G VHL von Hippel-Lindau tumor suppressor ISO OMIM NCBI chr13:66,334,535...66,342,401
Ensembl chr13:66,334,591...66,342,654
JBrowse link
WHIM syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CXCR4 C-X-C motif chemokine receptor 4 ISO OMIM NCBI chr15:15,663,652...15,666,706
Ensembl chr15:15,663,494...15,667,233
JBrowse link
G DARS1 aspartyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Warts, hypogammaglobulinemia, infections, and myelokathexis ClinVar PMID:28492532 NCBI chr15:15,810,497...15,885,706
Ensembl chr15:15,810,628...15,885,706
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12622
    sensory system disease 4778
      skin disease 2496
        Skin Neoplasms 224
          Abdominal Chemodectomas with Cutaneous Angiolipomas 0
          Bazex-Dupre-Christol Syndrome 0
          Becker Nevus Syndrome 0
          Blue Rubber Bleb Nevus Syndrome 1
          Brooke-Spiegler syndrome 1
          Calcifying Epithelial Odontogenic Tumor 0
          Cardiomyopathy Hypogonadism Collagenoma Syndrome 0
          Davenport Donlan Syndrome 0
          Familial Cutaneous Collagenoma 1
          Familial Cutaneous Papillomatosis 0
          Familial Multiple Trichodiscomas 0
          Fanconi-like syndrome 0
          Hamartoma, Precalcaneal Congenital Fibrolipomatous 0
          Hereditary Leiomyomatosis and Renal Cell Cancer 13
          Palmoplantar Hyperkeratosis with Squamous Cell Carcinoma of Skin and Sex Reversal 1
          Phacomatosis Pigmentokeratotica 0
          Progressive Mucinous Histiocytosis 0
          Reactive Angioendotheliomatosis 0
          Rombo Syndrome 0
          Sclerotylosis 1
          Sweat Gland Neoplasms + 1
          Trichoepithelioma, Multiple Familial, 2 1
          Trichoepitheliomas, Multiple Desmoplastic 0
          Trichofolliculoma 0
          Tufted Angioma 0
          acanthoma + 3
          dermatopathia pigmentosa reticularis 1
          large congenital melanocytic nevus 3
          neurilemmomatosis 3
          sebaceous gland neoplasm + 4
          skin benign neoplasm + 50
          skin cancer + 112
Path 2
Term Annotations click to browse term
  disease 12622
    disease of anatomical entity 12155
      nervous system disease 9921
        sensory system disease 4778
          skin disease 2496
            Skin Neoplasms 224
              Abdominal Chemodectomas with Cutaneous Angiolipomas 0
              Bazex-Dupre-Christol Syndrome 0
              Becker Nevus Syndrome 0
              Blue Rubber Bleb Nevus Syndrome 1
              Brooke-Spiegler syndrome 1
              Calcifying Epithelial Odontogenic Tumor 0
              Cardiomyopathy Hypogonadism Collagenoma Syndrome 0
              Davenport Donlan Syndrome 0
              Familial Cutaneous Collagenoma 1
              Familial Cutaneous Papillomatosis 0
              Familial Multiple Trichodiscomas 0
              Fanconi-like syndrome 0
              Hamartoma, Precalcaneal Congenital Fibrolipomatous 0
              Hereditary Leiomyomatosis and Renal Cell Cancer 13
              Palmoplantar Hyperkeratosis with Squamous Cell Carcinoma of Skin and Sex Reversal 1
              Phacomatosis Pigmentokeratotica 0
              Progressive Mucinous Histiocytosis 0
              Reactive Angioendotheliomatosis 0
              Rombo Syndrome 0
              Sclerotylosis 1
              Sweat Gland Neoplasms + 1
              Trichoepithelioma, Multiple Familial, 2 1
              Trichoepitheliomas, Multiple Desmoplastic 0
              Trichofolliculoma 0
              Tufted Angioma 0
              acanthoma + 3
              dermatopathia pigmentosa reticularis 1
              large congenital melanocytic nevus 3
              neurilemmomatosis 3
              sebaceous gland neoplasm + 4
              skin benign neoplasm + 50
              skin cancer + 112
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.