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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 6:31,828,363...31,831,981
Ensembl chr 6:32,708,251...32,711,641
JBrowse link
G AIRE autoimmune regulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:26168014 NCBI chr21:30,543,018...30,556,225
Ensembl chr21:43,837,340...43,848,974
JBrowse link
G AKT1 AKT serine/threonine kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21351258 NCBI chr14:85,417,229...85,444,722
Ensembl chr14:105,208,128...105,236,756
JBrowse link
G ANXA1 annexin A1 ISO RGD PMID:22782996 RGD:7421558 NCBI chr 9:51,647,404...51,665,990
Ensembl chr 9:71,929,728...71,948,779
JBrowse link
G AQP3 aquaporin 3 (Gill blood group) ISO CTD Direct Evidence: marker/mechanism CTD PMID:21401805 NCBI chr 9:33,221,989...33,228,469
Ensembl chr 9:34,032,983...34,039,438
JBrowse link
G ASIP agouti signaling protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:18488027 NCBI chr20:30,583,038...30,592,726
Ensembl chr20:31,718,169...31,727,217
JBrowse link
G CASP10 caspase 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18563783 NCBI chr2B:88,440,199...88,479,277
Ensembl chr2B:206,595,776...206,641,775
JBrowse link
G CASP8 caspase 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18563783 NCBI chr2B:88,490,611...88,542,132
Ensembl chr2B:206,669,544...206,696,468
JBrowse link
G CAT catalase treatment
disease_progression
ISO RGD PMID:1747937, PMID:21517247 RGD:9479155, RGD:9479189 NCBI chr11:34,413,253...34,446,831
Ensembl chr11:34,289,603...34,323,160
JBrowse link
G CDKN1A cyclin dependent kinase inhibitor 1A ISO RGD PMID:9264409 RGD:8662813 NCBI chr 6:36,241,405...36,250,032
Ensembl chr 6:37,436,990...37,445,599
JBrowse link
G CEBPA CCAAT enhancer binding protein alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:21346772 NCBI chr19:30,223,567...30,226,204 JBrowse link
G CSF3 colony stimulating factor 3 ISO CTD Direct Evidence: therapeutic CTD PMID:9774950 NCBI chr17:17,271,074...17,273,493
Ensembl chr17:17,491,276...17,493,729
JBrowse link
G CSNK2A1 casein kinase 2 alpha 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18572023 NCBI chr20:689,494...752,092
Ensembl chr20:456,629...521,126
JBrowse link
G CSNK2A2 casein kinase 2 alpha 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18572023 NCBI chr16:38,426,399...38,466,575
Ensembl chr16:57,557,270...57,596,218
JBrowse link
G CSNK2B casein kinase 2 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:18572023 NCBI chr 6:31,327,250...31,331,250 JBrowse link
G CTNNB1 catenin beta 1 ISO protein:increased expression:cytosol: RGD PMID:11517342 RGD:10395257 NCBI chr 3:41,104,940...41,145,934
Ensembl chr 3:41,373,726...41,414,030
JBrowse link
G CYLD CYLD lysine 63 deubiquitinase susceptibility ISO familial cylindromatosis, OMIM:132700;DNA:nonsense mutations RGD PMID:10835629 RGD:1601033 NCBI chr16:31,004,393...31,064,546
Ensembl chr16:49,882,751...49,942,629
JBrowse link
G EPHX1 epoxide hydrolase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26295053 NCBI chr 1:201,271,366...201,306,635
Ensembl chr 1:206,272,866...206,307,581
JBrowse link
G ERBB4 erb-b2 receptor tyrosine kinase 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19718025 NCBI chr2B:98,625,630...99,795,371
Ensembl chr2B:217,069,644...218,272,006
JBrowse link
G ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:17050553 NCBI chr19:42,298,927...42,319,816
Ensembl chr19:50,897,004...50,915,819
JBrowse link
G FLT1 fms related receptor tyrosine kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19718025 NCBI chr13:9,584,850...9,779,542 JBrowse link
G GJA1 gap junction protein alpha 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:7586191 NCBI chr 6:119,213,513...119,227,617 JBrowse link
G GJB2 gap junction protein beta 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:7586191 NCBI chr13:1,514,714...1,520,239
Ensembl chr13:19,831,274...19,831,954
JBrowse link
G GJB5 gap junction protein beta 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:7586191 NCBI chr 1:34,022,109...34,025,606
Ensembl chr 1:35,205,953...35,206,774
JBrowse link
G GLI2 GLI family zinc finger 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10700170 NCBI chr2B:7,665,403...7,922,840
Ensembl chr2B:121,303,831...121,497,442
JBrowse link
G GYPA glycophorin A (MNS blood group) ISO CTD Direct Evidence: marker/mechanism CTD PMID:17029826 NCBI chr 4:136,455,397...136,486,858
Ensembl chr 4:147,987,750...148,019,005
Ensembl chr 4:147,987,750...148,019,005
JBrowse link
G HCAR2 hydroxycarboxylic acid receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21655214 NCBI chr12:120,305,297...120,308,463 JBrowse link
G HCAR3 hydroxycarboxylic acid receptor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21655214 NCBI chr12:120,318,905...120,322,068
Ensembl chr12:124,553,940...124,555,103
JBrowse link
G HGF hepatocyte growth factor susceptibility ISO RGD PMID:10919643 RGD:8548621 NCBI chr 7:73,667,618...73,738,960
Ensembl chr 7:87,327,798...87,397,811
JBrowse link
G HIF1A hypoxia inducible factor 1 subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:19276359 NCBI chr14:42,295,691...42,348,478
Ensembl chr14:60,552,374...60,604,885
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 chr11:537,488...540,810
Ensembl chr11:568,305...571,078
JBrowse link
G IGF1 insulin like growth factor 1 ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:9135074, PMID:24353828 RGD:8549453 NCBI chr12:99,986,887...100,066,773 JBrowse link
G IGF1R insulin like growth factor 1 receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:10365914 NCBI chr15:77,332,926...77,648,474
Ensembl chr15:96,535,164...96,832,974
JBrowse link
G IL1A interleukin 1 alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:8435107 NCBI chr2A:89,273,482...89,284,421
Ensembl chr2A:113,784,854...113,795,801
JBrowse link
G IVL involucrin ISO CTD Direct Evidence: marker/mechanism CTD PMID:18572023 NCBI chr 1:128,254,139...128,256,893 JBrowse link
G KRT10 keratin 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18572023 NCBI chr17:16,461,624...16,466,136 JBrowse link
G LOC100970659 keratin, type II cytoskeletal 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18572023 NCBI chr12:36,083,858...36,089,521
Ensembl chr12:36,861,585...36,866,725
JBrowse link
G LOC100976433 keratin, type I cytoskeletal 17 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26168014 NCBI chr17:15,692,319...15,697,455
Ensembl chr17:15,910,899...15,916,079
JBrowse link
G LORICRIN loricrin cornified envelope precursor protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:18572023 NCBI chr 1:128,607,506...128,608,808 JBrowse link
G MAP2K4 mitogen-activated protein kinase kinase 4 treatment ISO RGD PMID:21378167 RGD:7495826 NCBI chr17:39,497,105...39,622,331
Ensembl chr17:44,248,857...44,359,909
JBrowse link
G MMP9 matrix metallopeptidase 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18572023 NCBI chr20:42,346,305...42,354,018
Ensembl chr20:43,432,389...43,440,129
JBrowse link
G NFE2L2 nuclear factor, erythroid 2 like 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18572023 NCBI chr2B:64,509,446...64,544,600
Ensembl chr2B:182,214,116...182,248,085
JBrowse link
G NOTCH1 notch receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27923803 NCBI chr 9:107,568,670...107,621,032
Ensembl chr 9:136,544,639...136,598,740
JBrowse link
G NOTCH2 notch receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27923803 NCBI chr 1:82,457,829...82,615,142
Ensembl chr 1:117,538,243...117,612,840
JBrowse link
G NOTCH3 notch receptor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27923803 NCBI chr19:14,692,571...14,733,758
Ensembl chr19:15,678,674...15,715,080
JBrowse link
G NOTCH4 notch receptor 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27923803 NCBI chr 6:31,842,233...31,871,412
Ensembl chr 6:32,722,112...32,750,978
JBrowse link
G NPPA natriuretic peptide A ISO CTD Direct Evidence: therapeutic CTD PMID:18004088 NCBI chr 1:10,608,025...10,610,287
Ensembl chr 1:11,825,072...11,827,373
JBrowse link
G NSD1 nuclear receptor binding SET domain protein 1 ISO RGD PMID:22832494 RGD:9590156 NCBI chr 5:172,431,968...172,602,174
Ensembl chr 5:179,499,865...179,666,351
JBrowse link
G ODC1 ornithine decarboxylase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:2591024, PMID:7653998 NCBI chr2A:10,443,308...10,451,412
Ensembl chr2A:10,598,125...10,607,152
JBrowse link
G PLCD1 phospholipase C delta 1 ISO RGD PMID:12805213 RGD:1302551 NCBI chr 3:37,906,359...37,928,564
Ensembl chr 3:38,189,496...38,206,886
JBrowse link
G POT1 protection of telomeres 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24686849 NCBI chr 7:116,807,913...116,926,998
Ensembl chr 7:129,487,571...129,605,558
JBrowse link
G PPARD peroxisome proliferator activated receptor delta ISO CTD Direct Evidence: marker/mechanism|therapeutic CTD PMID:19748995, PMID:21159610 NCBI chr 6:34,903,798...34,987,208
Ensembl chr 6:36,003,988...36,081,132
JBrowse link
G PTCH1 patched 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9581815 NCBI chr 9:66,542,675...66,616,820
Ensembl chr 9:94,668,365...94,741,453
JBrowse link
G PTGS2 prostaglandin-endoperoxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17499752, PMID:19748995, PMID:21159610 NCBI chr 1:162,205,534...162,214,130
Ensembl chr 1:166,355,845...166,364,519
JBrowse link
G PTK2B protein tyrosine kinase 2 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:19718025 NCBI chr 8:26,580,855...26,729,378
Ensembl chr 8:23,869,825...23,932,474
JBrowse link
G RELA RELA proto-oncogene, NF-kB subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:23069812 NCBI chr11:61,012,839...61,022,225
Ensembl chr11:64,347,859...64,356,868
JBrowse link
G SMO smoothened, frizzled class receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:9581815 NCBI chr 7:121,143,968...121,168,873
Ensembl chr 7:133,668,304...133,693,048
JBrowse link
G SOD2 superoxide dismutase 2 disease_progression ISO CTD Direct Evidence: marker/mechanism|therapeutic RGD
CTD
PMID:11507057, PMID:12032821, PMID:15130280, PMID:20454814, PMID:22009531, PMID:25362851 RGD:8547517, RGD:8547525, RGD:8547532 NCBI chr 6:157,562,814...157,610,155
Ensembl chr 6:162,576,082...162,589,960
JBrowse link
G SP1 Sp1 transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:22009531 NCBI chr12:35,338,492...35,374,462
Ensembl chr12:36,127,681...36,158,356
JBrowse link
G STAT3 signal transducer and activator of transcription 3 ISO RGD PMID:18453544, PMID:19137019 RGD:8694289, RGD:8694294 NCBI chr17:14,928,689...15,003,644
Ensembl chr17:15,152,358...15,227,067
JBrowse link
G TGFB1 transforming growth factor beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:8148055 NCBI chr19:38,324,009...38,347,003
Ensembl chr19:46,831,659...46,852,973
JBrowse link
G TGFBR1 transforming growth factor beta receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21358634 NCBI chr 9:70,195,007...70,243,514
Ensembl chr 9:98,332,739...98,362,748
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 chr17:7,699,449...7,717,812
Ensembl chr17:7,684,922...7,706,120
JBrowse link
G TYR tyrosinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:18488027 NCBI chr11:84,188,557...84,306,686
Ensembl chr11:87,769,606...87,888,138
JBrowse link
G VEGFA vascular endothelial growth factor A ISO RGD PMID:15150105 RGD:7421589 NCBI chr 6:43,361,053...43,377,366
Ensembl chr 6:44,650,365...44,666,353
JBrowse link
G XPA XPA, DNA damage recognition and repair factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:10755388, PMID:16962818 NCBI chr 9:68,726,723...68,788,049
Ensembl chr 9:96,886,795...96,909,254
JBrowse link
G XRCC3 X-ray repair cross complementing 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11059748, PMID:16501254 NCBI chr14:84,323,644...84,341,763
Ensembl chr14:104,131,903...104,149,037
JBrowse link
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:90,600,412...90,610,594
Ensembl chr  X:100,732,311...100,742,280
JBrowse link
G NAGA alpha-N-acetylgalactosaminidase ISO Kanzaki Disease, OMIM:609242, DNA:point mutation:exon:R329W RGD PMID:8040340 RGD:1600558 NCBI chr22:22,951,723...22,964,278
Ensembl chr22:41,035,622...41,046,431
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 chr2B:115,052,768...115,056,479
Ensembl chr2B:233,862,505...233,866,225
JBrowse link
G IFNA6 interferon alpha 6 treatment ISO RGD PMID:25774455 RGD:36174028 NCBI chr 9:21,211,046...21,211,734
Ensembl chr 9:21,828,719...21,829,288
JBrowse link
G IL12B interleukin 12B treatment ISO RGD PMID:16114559 RGD:7829774 NCBI chr 5:154,706,467...154,722,231
Ensembl chr 5:161,325,303...161,335,381
JBrowse link
G IL4 interleukin 4 treatment ISO RGD PMID:16114559 RGD:7829774 NCBI chr 5:128,091,342...128,099,886
Ensembl chr 5:134,253,039...134,261,581
JBrowse link
G PTPN11 protein tyrosine phosphatase non-receptor type 11 ISO protein:increased expression:foreskin RGD PMID:18543080 RGD:39128248 NCBI chr12:110,016,364...110,107,462
Ensembl chr12:113,435,669...113,503,762
JBrowse link
G PTPN6 protein tyrosine phosphatase non-receptor type 6 ISO protein:increased expression:foreskin RGD PMID:18543080 RGD:39128248 NCBI chr12:7,075,879...7,093,041
Ensembl chr12:6,991,099...7,008,830
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 chr17:1,745,597...1,761,399
Ensembl chr17:1,638,556...1,653,568
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 chr20:30,583,038...30,592,726
Ensembl chr20:31,718,169...31,727,217
JBrowse link
G BAP1 BRCA1 associated protein 1 ISO CTD Direct Evidence: marker/mechanism RGD
CTD
PMID:25080371, PMID:26719535 RGD:9586038 NCBI chr 3:52,344,067...52,352,187
Ensembl chr 3:53,573,785...53,581,943
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 5:27,958,859...27,995,815
Ensembl chr 5:28,094,064...28,116,149
JBrowse link
G CLPTM1L CLPTM1 like ISO CTD Direct Evidence: marker/mechanism CTD PMID:19151717 NCBI chr 5:1,609,455...1,638,325
Ensembl chr 5:1,361,571...1,388,415
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 chr20:19,992,092...20,010,809
Ensembl chr20:19,959,356...19,979,094
JBrowse link
G CTLA4 cytotoxic T-lymphocyte associated protein 4 susceptibility ISO DNA:SNP: :rs3087243(human) RGD PMID:19622768 RGD:7411686 NCBI chr2B:91,054,917...91,106,234
Ensembl chr2B:209,239,417...209,244,498
JBrowse link
G ERBB2 erb-b2 receptor tyrosine kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26950094 NCBI chr17:17,560,337...17,600,808
Ensembl chr17:17,777,434...17,805,862
JBrowse link
G FBXW7 F-box and WD repeat domain containing 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26950094 NCBI chr 4:144,660,676...144,874,404
Ensembl chr 4:156,312,274...156,402,351
JBrowse link
G GLI2 GLI family zinc finger 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10700170 NCBI chr2B:7,665,403...7,922,840
Ensembl chr2B:121,303,831...121,497,442
JBrowse link
G HHIP hedgehog interacting protein treatment ISO mRNA:increased expression:skin: RGD PMID:15024045 RGD:11552592 NCBI chr 4:136,989,818...137,085,407
Ensembl chr 4:148,651,597...148,744,619
JBrowse link
G IL6 interleukin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22108589 NCBI chr 7:23,415,922...23,420,767 JBrowse link
G KRT5 keratin 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19578363, PMID:20871598 NCBI chr12:36,243,221...36,249,573
Ensembl chr12:37,021,432...37,025,105
JBrowse link
G LATS1 large tumor suppressor kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26950094 NCBI chr 6:147,476,913...147,533,491
Ensembl chr 6:152,182,394...152,239,276
JBrowse link
G LOC100976433 keratin, type I cytoskeletal 17 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20871598 NCBI chr17:15,692,319...15,697,455
Ensembl chr17:15,910,899...15,916,079
JBrowse link
G LOC100989926 uncharacterized LOC100989926 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26950094 NCBI chr 6:31,666,381...31,667,410
Ensembl chr 6:32,519,252...32,526,782
JBrowse link
G MYCN MYCN proto-oncogene, bHLH transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:26950094 NCBI chr2A:15,925,130...15,931,605 JBrowse link
G OCA2 OCA2 melanosomal transmembrane protein susceptibility ISO DNA:snps:intron:IVS1+132A>G (rs7495174), IVS1+8550A>G (rs11855019), IVS1+15605G>A (rs7174027) (human)
DNA:missense mutation:cds:p.R419Q (rs1800407) (human)
RGD PMID:19384953, PMID:21270109 RGD:9491840, RGD:9491841 NCBI chr15:1,811,728...2,192,018
Ensembl chr15:25,181,386...25,523,774
JBrowse link
G OGG1 8-oxoguanine DNA glycosylase no_association ISO DNA:missense mutation: :p.S326C (rs1052133)(human) RGD PMID:15466987, PMID:22436579 RGD:8657137, RGD:8657158 NCBI chr 3:9,702,311...9,742,283 JBrowse link
G PALB2 partner and localizer of BRCA2 ISO ClinVar Annotator: match by term: Basal cell carcinoma ClinVar PMID:27878467 NCBI chr16:14,470,367...14,507,841
Ensembl chr16:23,855,535...23,892,117
JBrowse link
G PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:26950094 NCBI chr 3:176,182,765...176,272,024
Ensembl chr 3:184,355,785...184,441,977
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 1:45,494,834...45,525,804
Ensembl chr 1:46,849,528...46,859,137
JBrowse link
G PPP6C protein phosphatase 6 catalytic subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:26950094 NCBI chr 9:96,267,918...96,311,159
Ensembl chr 9:124,783,173...124,825,877
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: BCC1
ClinVar Annotator: match by term: Basal cell carcinoma, somatic
CTD Direct Evidence: marker/mechanism
mRNA:increased expression:skin of body
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 chr 9:66,542,675...66,616,820
Ensembl chr 9:94,668,365...94,741,453
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 1:44,125,693...44,147,462
Ensembl chr 1:45,490,789...45,513,055
JBrowse link
G PTPN14 protein tyrosine phosphatase non-receptor type 14 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26950094 NCBI chr 1:189,925,706...190,120,232
Ensembl chr 1:194,780,068...194,887,798
JBrowse link
G RASA1 RAS p21 protein activator 1 susceptibility ISO ClinVar Annotator: match by term: Basal cell carcinoma, somatic
ClinVar Annotator: match by term: BCC1
DNA:missense mutations:cds: (human)
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
RGD
CTD
PMID:8275088, PMID:25741868, PMID:28492532 RGD:737716 NCBI chr 5:27,980,907...28,104,368
Ensembl chr 5:28,115,159...28,240,321
JBrowse link
G RB1 RB transcriptional corepressor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26950094 NCBI chr13:29,453,872...29,624,665
Ensembl chr13:48,155,795...48,324,575
JBrowse link
G RPE65 retinoid isomerohydrolase RPE65 ISO mRNA:increased expression:skin (human) RGD PMID:16181461 RGD:9495923 NCBI chr 1:67,666,784...67,687,891
Ensembl chr 1:69,623,775...69,644,904
JBrowse link
G SHH sonic hedgehog signaling molecule ISO DNA, protein:hypermethylation, decreased expression:skin of body RGD PMID:23284750 RGD:12801452 NCBI chr 7:147,400,112...147,414,036
Ensembl chr 7:159,114,666...159,126,651
JBrowse link
G SLC45A2 solute carrier family 45 member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19578363 NCBI chr 5:76,357,549...76,398,571
Ensembl chr 5:81,743,254...81,784,565
JBrowse link
G SMO smoothened, frizzled class receptor susceptibility
disease_progression
ISO ClinVar Annotator: match by term: Carcinoma, Basal Cell
ClinVar Annotator: match by term: Basal cell carcinoma, sporadic
DNA:missense mutations:cds:p.W535L, p.R562Q (human)
CTD Direct Evidence: marker/mechanism
mRNA:increased expression:skin of body
OMIM
ClinVar
RGD
CTD
PMID:9422511, PMID:9581815, PMID:10504535, PMID:19726788, PMID:22679179, PMID:25759020, PMID:26950094 RGD:12801453, RGD:704355 NCBI chr 7:121,143,968...121,168,873
Ensembl chr 7:133,668,304...133,693,048
JBrowse link
G SUFU SUFU negative regulator of hedgehog signaling ISO CTD Direct Evidence: marker/mechanism CTD PMID:26950094 NCBI chr10:99,107,516...99,231,761
Ensembl chr10:102,571,886...102,696,472
JBrowse link
G TERT telomerase reverse transcriptase ISO CTD Direct Evidence: marker/mechanism CTD PMID:19151717 NCBI chr 5:1,542,217...1,586,775
Ensembl chr 5:1,300,960...1,338,872
JBrowse link
G TP53 tumor protein p53 ISO OMIM NCBI chr17:7,699,449...7,717,812
Ensembl chr17:7,684,922...7,706,120
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 1:45,479,917...45,492,115
Ensembl chr 1:46,835,952...46,846,828
JBrowse link
G TYR tyrosinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:18488027 NCBI chr11:84,188,557...84,306,686
Ensembl chr11:87,769,606...87,888,138
JBrowse link
G VDR vitamin D receptor ISO DNA:SNPs, haplotype: :rs731236, rs7975232 (human)
mRNA:increased expression:skin
RGD PMID:15077124, PMID:22213323 RGD:8158063, RGD:8158076 NCBI chr12:40,828,413...40,891,700
Ensembl chr12:41,702,742...41,766,192
JBrowse link
G XPA XPA, DNA damage recognition and repair factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:17687452 NCBI chr 9:68,726,723...68,788,049
Ensembl chr 9:96,886,795...96,909,254
JBrowse link
G XRCC3 X-ray repair cross complementing 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16501254 NCBI chr14:84,323,644...84,341,763
Ensembl chr14:104,131,903...104,149,037
JBrowse link
G XRCC5 X-ray repair cross complementing 5 ISO protein:increased expression:epidermal cell, basal cell of epidermis (human) RGD PMID:16497868 RGD:8698657 NCBI chr2B:103,371,459...103,468,419
Ensembl chr2B:221,972,742...222,071,235
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 chr22:22,516,281...22,557,379
Ensembl chr22:40,603,038...40,643,314
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 1:94,907,342...94,963,052
Ensembl chr 1:93,646,499...93,701,430
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 chr16:31,004,393...31,064,546
Ensembl chr16:49,882,751...49,942,629
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 chr17:44,274,349...44,291,764
Ensembl chr17:49,150,677...49,166,677
JBrowse link
G NPC1 NPC intracellular cholesterol transporter 1 ISO ClinVar Annotator: match by term: Capillary hemangiomas ClinVar PMID:25741868 NCBI chr18:16,783,096...16,838,301
Ensembl chr18:20,409,040...20,463,623
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 chr2A:69,054,253...69,290,554
Ensembl chr2A:70,175,982...70,412,454
JBrowse link
G FLT4 fms related receptor tyrosine kinase 4 ISO OMIM NCBI chr 5:175,804,728...175,852,703
Ensembl chr 5:183,115,856...183,149,006
JBrowse link
G KDR kinase insert domain receptor ISO OMIM NCBI chr 4:68,813,894...68,861,018
Ensembl chr 4:75,377,375...75,427,109
JBrowse link
G MYH9 myosin heavy chain 9 ISO ClinVar Annotator: match by term: Hemangioma, capillary infantile ClinVar NCBI chr22:17,200,623...17,305,826
Ensembl chr22:35,039,101...35,121,618
JBrowse link
G SLC2A1 solute carrier family 2 member 1 ISO RGD PMID:17554865 RGD:12879502 NCBI chr 1:42,224,273...42,257,184
Ensembl chr 1:43,600,733...43,634,143
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 chr 3:10,077,630...10,089,499
Ensembl chr 3:10,430,143...10,440,234
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: Malignant melanoma
ClinVar Annotator: match by term: FAMILIAL ATYPICAL MOLE-MALIGNANT MELANOMA SYNDROME
ClinVar PMID:10201537, PMID:10208439, PMID:25157968 Ensembl chr19:1,188,537...1,210,677 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 chr 3:176,182,765...176,272,024
Ensembl chr 3:184,355,785...184,441,977
JBrowse link
dermatopathia pigmentosa reticularis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC100975309 keratin, type I cytoskeletal 14 ISO OMIM NCBI chr17:15,730,066...15,734,665
Ensembl chr17:15,948,596...15,953,191
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 chr17:72,183,937...72,205,550
Ensembl chr17:77,742,467...77,757,482
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 chr17:72,204,802...72,218,105
Ensembl chr17:77,759,805...77,771,013
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 chr17:72,183,937...72,205,550
Ensembl chr17:77,742,467...77,757,482
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 chr17:72,204,802...72,218,105
Ensembl chr17:77,759,805...77,771,013
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 chr17:72,204,802...72,218,105
Ensembl chr17:77,759,805...77,771,013
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 chr15:68,919,377...68,923,213 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 4:34,517,487...34,569,934
Ensembl chr 4:40,419,549...40,420,124
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 8:75,254,166...75,337,373
Ensembl chr 8:76,895,095...76,966,918
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 chr12:23,668,368...23,747,369
Ensembl chr12:24,172,749...24,252,314
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 chr12:31,174,446...31,178,597
Ensembl chr12:31,434,594...31,438,876
JBrowse link
G CDKN2A cyclin dependent kinase inhibitor 2A ISO OMIM NCBI chr 9:21,803,862...21,831,322 JBrowse link
G FANCA FA complementation group A ISO ClinVar Annotator: match by term: Cutaneous malignant melanoma 5 ClinVar PMID:28492532 NCBI chr16:70,495,310...70,579,275
Ensembl chr16:90,163,950...90,245,147
JBrowse link
G KLC1 kinesin light chain 1 ISO ClinVar Annotator: match by term: Cutaneous malignant melanoma 6 ClinVar PMID:11059748 NCBI chr14:84,255,959...84,326,767 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 chr 3:69,674,064...69,902,078
Ensembl chr 3:71,037,665...71,265,445
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 chr 7:116,807,913...116,926,998
Ensembl chr 7:129,487,571...129,605,558
JBrowse link
G SPIRE2 spire type actin nucleation factor 2 ISO ClinVar Annotator: match by term: Cutaneous malignant melanoma 5 ClinVar PMID:28492532 NCBI chr16:70,580,030...70,634,143
Ensembl chr16:90,273,160...90,299,061
JBrowse link
G TCF25 transcription factor 25 ISO ClinVar Annotator: match by term: Cutaneous malignant melanoma 5 ClinVar PMID:28492532 NCBI chr16:70,636,413...70,675,841
Ensembl chr16:90,298,175...90,340,048
JBrowse link
G TERT telomerase reverse transcriptase ISO OMIM NCBI chr 5:1,542,217...1,586,775
Ensembl chr 5:1,300,960...1,338,872
JBrowse link
G TSPAN31 tetraspanin 31 ISO ClinVar Annotator: match by term: Hereditary cutaneous melanoma
ClinVar Annotator: match by term: Cutaneous Malignant Melanoma, Dominant
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 chr12:31,178,439...31,188,737
Ensembl chr12:31,438,856...31,442,267
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 chr11:84,188,557...84,306,686
Ensembl chr11:87,769,606...87,888,138
JBrowse link
G XRCC3 X-ray repair cross complementing 3 ISO OMIM NCBI chr14:84,323,644...84,341,763
Ensembl chr14:104,131,903...104,149,037
JBrowse link
Ferguson-Smith tumor term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TGFBR1 transforming growth factor beta receptor 1 susceptibility ISO ClinVar Annotator: match by term: MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO
ClinVar Annotator: match by term: Multiple self healing squamous epithelioma
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 9:70,195,007...70,243,514
Ensembl chr 9:98,332,739...98,362,748
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 chr14:42,295,691...42,348,478
Ensembl chr14:60,552,374...60,604,885
JBrowse link
G NDRG1 N-myc downstream regulated 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15341671 NCBI chr 8:129,891,918...129,952,489
Ensembl chr 8:132,866,245...132,926,514
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 chr 1:217,191,065...217,202,578 JBrowse link
G CHRM3 cholinergic receptor muscarinic 3 ISO ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer ClinVar PMID:29909963 NCBI chr 1:214,931,514...215,452,739 JBrowse link
G EXO1 exonuclease 1 ISO ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer ClinVar PMID:29909963 NCBI chr 1:217,410,175...217,451,982
Ensembl chr 1:222,389,684...222,431,556
JBrowse link
G FH fumarate hydratase ISO OMIM NCBI chr 1:217,059,847...217,081,795
Ensembl chr 1:222,041,142...222,064,212
JBrowse link
G FMN2 formin 2 ISO ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer ClinVar PMID:29909963 NCBI chr 1:215,626,889...216,023,590 JBrowse link
G GREM2 gremlin 2, DAN family BMP antagonist ISO ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer ClinVar PMID:29909963 NCBI chr 1:216,037,977...216,163,020
Ensembl chr 1:221,026,605...221,027,111
JBrowse link
G KMO kynurenine 3-monooxygenase ISO ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer ClinVar PMID:29909963 NCBI chr 1:217,094,037...217,157,827
Ensembl chr 1:222,075,268...222,138,866
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 chr 1:217,558,010...217,562,485
Ensembl chr 1:222,537,401...222,541,244
JBrowse link
G OPN3 opsin 3 ISO ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer ClinVar PMID:29909963 NCBI chr 1:217,155,765...217,202,577
Ensembl chr 1:222,136,422...222,184,598
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 chr 1:217,640,005...218,081,158 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 chr 1:216,329,373...216,919,898
Ensembl chr 1:221,313,924...221,899,627
JBrowse link
G RYR2 ryanodine receptor 2 ISO ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer ClinVar PMID:29909963 NCBI chr 1:212,600,198...213,387,312
Ensembl chr 1:217,815,676...218,383,509
JBrowse link
G WDR64 WD repeat domain 64 ISO ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer ClinVar PMID:29909963 NCBI chr 1:217,214,176...217,364,983
Ensembl chr 1:222,194,990...222,344,758
JBrowse link
G ZP4 zona pellucida glycoprotein 4 ISO ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer ClinVar PMID:29909963 NCBI chr 1:213,435,888...213,444,439
Ensembl chr 1:218,428,967...218,442,383
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 chr11:537,488...540,810
Ensembl chr11:568,305...571,078
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 chr11:514,227...559,838
Ensembl chr11:575,495...588,750
JBrowse link
G NRAS NRAS proto-oncogene, GTPase ISO OMIM NCBI chr 1:87,837,146...87,850,013
Ensembl chr 1:122,890,505...122,903,585
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 chr 1:217,059,847...217,081,795
Ensembl chr 1:222,041,142...222,064,212
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 chr16:30,576,449...30,630,409
Ensembl chr16:49,463,048...49,514,386
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 4:1,933,172...1,948,742 JBrowse link
G MYC MYC proto-oncogene, bHLH transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:25277525 NCBI chr 8:124,387,561...124,393,551
Ensembl chr 8:127,131,512...127,136,863
JBrowse link
G SPA17 sperm autoantigenic protein 17 ISO mRNA,protein:increased expression:nucleus RGD PMID:31218705 RGD:27226803 NCBI chr11:119,501,604...119,526,103
Ensembl chr11:123,416,725...123,437,818
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 chr 3:36,899,828...36,957,076
Ensembl chr 3:37,189,439...37,245,801
JBrowse link
G MSH2 mutS homolog 2 ISO OMIM NCBI chr2A:47,524,468...47,602,376
Ensembl chr2A:48,447,207...48,554,461
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 chr17:5,562,129...5,667,765
Ensembl chr17:5,542,007...5,623,091
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 chr2B:93,516,875...93,556,652
Ensembl chr2B:211,645,765...211,685,047
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 chr22:3,206,019...3,223,050
Ensembl chr22:19,695,228...19,713,007
JBrowse link
G NF2 neurofibromin 2 ISO OMIM NCBI chr22:10,648,022...10,738,167
Ensembl chr22:28,454,119...28,544,013
JBrowse link
G SMARCB1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 ISO OMIM NCBI chr22:4,542,764...4,589,461
Ensembl chr22:22,627,982...22,673,921
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 chr 9:65,825,138...66,188,001
Ensembl chr 9:93,986,951...94,311,201
JBrowse link
G FANCC FA complementation group C ISO ClinVar Annotator: match by term: Gorlin syndrome ClinVar PMID:17703323, PMID:22382802, PMID:28492532 NCBI chr 9:66,201,581...66,418,229
Ensembl chr 9:94,329,971...94,477,198
JBrowse link
G GLI1 GLI family zinc finger 1 ISO RGD PMID:15308259 RGD:12801443 NCBI chr12:31,453,759...31,466,194
Ensembl chr12:31,710,057...31,722,473
JBrowse link
G GLI2 GLI family zinc finger 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16936257 NCBI chr2B:7,665,403...7,922,840
Ensembl chr2B:121,303,831...121,497,442
JBrowse link
G PTCH1 patched 1 ISO OMIM NCBI chr 9:66,542,675...66,616,820
Ensembl chr 9:94,668,365...94,741,453
JBrowse link
G PTCH2 patched 2 ISO OMIM NCBI chr 1:44,125,693...44,147,462
Ensembl chr 1:45,490,789...45,513,055
JBrowse link
G PTH parathyroid hormone ISO CTD Direct Evidence: marker/mechanism CTD PMID:24803734 NCBI chr11:13,653,777...13,657,901
Ensembl chr11:13,347,838...13,351,802
JBrowse link
G SHH sonic hedgehog signaling molecule ISO RGD PMID:9115210 RGD:12802345 NCBI chr 7:147,400,112...147,414,036
Ensembl chr 7:159,114,666...159,126,651
JBrowse link
G SMO smoothened, frizzled class receptor ISO RGD PMID:15308259 RGD:12801443 NCBI chr 7:121,143,968...121,168,873
Ensembl chr 7:133,668,304...133,693,048
JBrowse link
G SUFU SUFU negative regulator of hedgehog signaling ISO OMIM NCBI chr10:99,107,516...99,231,761
Ensembl chr10:102,571,886...102,696,472
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 1:36,885,176...36,907,821
Ensembl chr 1:38,231,764...38,256,903
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 chr 3:41,104,940...41,145,934
Ensembl chr 3:41,373,726...41,414,030
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 1:44,632,102...44,643,292 JBrowse link
G OVOL1 ovo like transcriptional repressor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26873447 NCBI chr11:61,144,969...61,156,706
Ensembl chr11:64,478,549...64,488,647
JBrowse link
G OVOL2 ovo like zinc finger 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26873447 NCBI chr20:17,983,277...18,019,441
Ensembl chr20:17,962,123...17,994,486
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 chr15:18,871,867...18,973,380
Ensembl chr15:37,120,044...37,229,211
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 chr2B:106,140,859...106,154,301
Ensembl chr2B:224,736,598...224,747,912
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 4:86,567,722...86,651,527
Ensembl chr 4:97,240,614...97,324,366
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 6:36,241,405...36,250,032
Ensembl chr 6:37,436,990...37,445,599
JBrowse link
G LEF1 lymphoid enhancer binding factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16565724 NCBI chr 4:100,552,959...100,674,156
Ensembl chr 4:111,125,312...111,245,980
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 9:51,647,404...51,665,990
Ensembl chr 9:71,929,728...71,948,779
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 4:1,933,172...1,948,742 JBrowse link
G PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha ISO OMIM NCBI chr 3:176,182,765...176,272,024
Ensembl chr 3:184,355,785...184,441,977
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 chr11:537,488...540,810
Ensembl chr11:568,305...571,078
JBrowse link
G PTCH1 patched 1 ISO ClinVar Annotator: match by term: Tumor of the skin ClinVar PMID:30311386 NCBI chr 9:66,542,675...66,616,820
Ensembl chr 9:94,668,365...94,741,453
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 chr10:69,923,353...69,962,980
Ensembl chr10:72,381,447...72,420,749
JBrowse link
G CHUK component of inhibitor of nuclear factor kappa B kinase complex ISO RGD PMID:21755017 RGD:13504775 NCBI chr10:96,794,228...96,835,449
Ensembl chr10:100,280,490...100,316,918
JBrowse link
G CRKL CRK like proto-oncogene, adaptor protein ISO RGD PMID:16391854 RGD:7488899 NCBI chr22:3,141,147...3,177,448
Ensembl chr22:19,632,359...19,668,858
JBrowse link
G PTCH1 patched 1 ISO ClinVar Annotator: match by term: Skin cancer ClinVar PMID:30311386 NCBI chr 9:66,542,675...66,616,820
Ensembl chr 9:94,668,365...94,741,453
JBrowse link
G SRSF6 serine and arginine rich splicing factor 6 ISO protein:increased expression:skin (human) RGD PMID:24440982 RGD:11039481 NCBI chr20:39,795,659...39,801,864
Ensembl chr20:40,888,560...40,891,853
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 chr 1:206,252,141...206,263,830
Ensembl chr 1:211,279,015...211,291,044
JBrowse link
G AKT1 AKT serine/threonine kinase 1 ISO ClinVar Annotator: match by term: Malignant melanoma of skin
ClinVar Annotator: match by term: Cutaneous melanoma
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 NCBI chr14:85,417,229...85,444,722
Ensembl chr14:105,208,128...105,236,756
JBrowse link
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:39,997,026...40,007,783
Ensembl chr  X:47,893,153...47,904,643
JBrowse link
G B2M beta-2-microglobulin ISO ClinVar Annotator: match by term: Malignant melanoma of skin ClinVar PMID:26619011 NCBI chr15:23,668,108...23,674,791
Ensembl chr15:41,836,345...41,842,991
JBrowse link
G BAP1 BRCA1 associated protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25231345, PMID:26719535 NCBI chr 3:52,344,067...52,352,187
Ensembl chr 3:53,573,785...53,581,943
JBrowse link
G BCL2L12 BCL2 like 12 ISO ClinVar Annotator: match by term: Malignant melanoma of skin ClinVar PMID:26619011 NCBI chr19:46,679,749...46,688,539 JBrowse link
G BRAF B-Raf proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: Cutaneous melanoma
ClinVar Annotator: match by term: Malignant melanoma of skin
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 chr 7:132,651,908...132,855,422
Ensembl chr 7:145,138,510...145,327,115
JBrowse link
G BRCA2 BRCA2 DNA repair associated disease_progression ISO DNA:SNP: :rs206118, rs3752447, rs10492396 (human) RGD PMID:25243787 RGD:11344896 NCBI chr13:13,574,422...13,658,967
Ensembl chr13:32,010,066...32,091,332
JBrowse link
G CCL2 C-C motif chemokine ligand 2 disease_progression ISO DNA:SNP: :2578A>G (human) RGD PMID:17169533 RGD:9491398 NCBI chr17:22,528,154...22,530,091
Ensembl chr17:22,820,890...22,823,384
JBrowse link
G CD40 CD40 molecule disease_progression ISO RGD PMID:8952530 RGD:8547772 NCBI chr20:42,455,711...42,467,139
Ensembl chr20:43,541,619...43,552,994
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 chr12:31,174,446...31,178,597
Ensembl chr12:31,434,594...31,438,876
JBrowse link
G CDKN2A cyclin dependent kinase inhibitor 2A ISO DNA:missense mutation:exon:p.P48L (human)
ClinVar Annotator: match by term: Cutaneous melanoma
ClinVar Annotator: match by term: Malignant melanoma of skin
CTD Direct Evidence: marker/mechanism
DNA:frameshift mutations, deletions:cds:multiple (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 9:21,803,862...21,831,322 JBrowse link
G CHAF1B chromatin assembly factor 1 subunit B severity ISO protein:increased expression:skin: RGD PMID:20178651 RGD:9587476 NCBI chr21:22,755,721...22,786,958
Ensembl chr21:36,113,971...36,143,575
JBrowse link
G CNOT9 CCR4-NOT transcription complex subunit 9 ISO ClinVar Annotator: match by term: Malignant melanoma of skin ClinVar PMID:26619011 NCBI chr2B:105,826,633...105,854,415
Ensembl chr2B:224,422,467...224,450,133
JBrowse link
G CNR1 cannabinoid receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28131817 NCBI chr 6:86,017,141...86,044,889 JBrowse link
G CREB1 cAMP responsive element binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29179997 NCBI chr2B:94,762,796...94,836,304
Ensembl chr2B:212,891,261...212,958,130
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 chr16:2,645,445...2,800,975
Ensembl chr16:3,820,519...3,974,206
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 chr20:19,992,092...20,010,809
Ensembl chr20:19,959,356...19,979,094
JBrowse link
G CTNNB1 catenin beta 1 ISO ClinVar Annotator: match by term: Malignant melanoma of skin
ClinVar Annotator: match by term: Cutaneous melanoma
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 chr 3:41,104,940...41,145,934
Ensembl chr 3:41,373,726...41,414,030
JBrowse link
G DNMT3B DNA methyltransferase 3 beta disease_progression ISO RGD PMID:21081840 RGD:9589074 NCBI chr20:29,049,993...29,096,957
Ensembl chr20:30,186,069...30,215,487
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 chr17:17,560,337...17,600,808
Ensembl chr17:17,777,434...17,805,862
JBrowse link
G ERBB4 erb-b2 receptor tyrosine kinase 4 ISO ClinVar Annotator: match by term: Cutaneous melanoma ClinVar PMID:19718025 NCBI chr2B:98,625,630...99,795,371
Ensembl chr2B:217,069,644...218,272,006
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 7:140,536,962...140,613,104
Ensembl chr 7:153,017,590...153,059,726
JBrowse link
G FANCA FA complementation group A disease_progression ISO DNA:SNP: :rs62068372 (human) RGD PMID:25243787 RGD:11344896 NCBI chr16:70,495,310...70,579,275
Ensembl chr16:90,163,950...90,245,147
JBrowse link
G FANCD2 FA complementation group D2 ISO mRNA,protein:increased expression:skin,nucleus: RGD PMID:21697891 RGD:11046262 NCBI chr 3:9,932,292...10,037,332
Ensembl chr 3:10,312,476...10,389,190
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 4:144,660,676...144,874,404
Ensembl chr 4:156,312,274...156,402,351
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 chr19:2,120,398...2,149,161
Ensembl chr19:3,074,483...3,102,124
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 9:46,816,409...47,129,116
Ensembl chr 9:76,575,815...76,773,849
JBrowse link
G GSTM1 glutathione S-transferase mu 1 susceptibility ISO DNA:deletion:: (human) RGD PMID:11352862 RGD:12792221 Ensembl chr 1:127,979,238...128,010,411 JBrowse link
G HIF1A hypoxia inducible factor 1 subunit alpha ISO protein:increased expression:epidermis (human) RGD PMID:19558170 RGD:8695922 NCBI chr14:42,295,691...42,348,478
Ensembl chr14:60,552,374...60,604,885
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 chr11:537,488...540,810
Ensembl chr11:568,305...571,078
JBrowse link
G ICAM1 intercellular adhesion molecule 1 disease_progression ISO DNA:missense mutation:exon:p.R241G (human) RGD PMID:16313300 RGD:8547698 NCBI chr19:9,821,402...9,837,021
Ensembl chr19:10,484,414...10,500,605
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 chr2B:95,475,320...95,494,286
Ensembl chr2B:213,599,036...213,617,175
JBrowse link
G JMJD6 jumonji domain containing 6, arginine demethylase and lysine hydroxylase ISO CTD Direct Evidence: marker/mechanism CTD PMID:30619488 NCBI chr17:70,789,922...70,803,791
Ensembl chr17:76,356,142...76,370,117
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 4:69,199,543...69,282,323
Ensembl chr 4:75,761,946...75,844,473
JBrowse link
G KNSTRN kinetochore localized astrin (SPAG5) binding protein ISO ClinVar Annotator: match by term: Malignant melanoma of skin ClinVar PMID:26619011 NCBI chr15:19,316,854...19,328,425 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 chr12:61,062,689...61,108,524
Ensembl chr12:63,679,293...63,724,335
JBrowse link
G LOC100977025 dual specificity 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 chr19:3,114,445...3,148,619
Ensembl chr19:4,064,626...4,097,933
JBrowse link
G LOC100989926 uncharacterized LOC100989926 ISO ClinVar Annotator: match by term: Malignant melanoma of skin ClinVar PMID:26619011 NCBI chr 6:31,666,381...31,667,410
Ensembl chr 6:32,519,252...32,526,782
JBrowse link
G LOC100990650 guanine nucleotide-binding protein G(s) subunit alpha 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 chr20:55,190,607...55,262,245 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 chr11:514,227...559,838
Ensembl chr11:575,495...588,750
JBrowse link
G MAP2K1 mitogen-activated protein kinase kinase 1 ISO ClinVar Annotator: match by term: Cutaneous melanoma
ClinVar Annotator: match by term: Malignant melanoma of skin
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 chr15:45,337,117...45,438,826
Ensembl chr15:63,613,961...63,714,161
JBrowse link
G MITF melanocyte inducing transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:22080950 NCBI chr 3:69,674,064...69,902,078
Ensembl chr 3:71,037,665...71,265,445
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 chr11:97,730,545...97,739,190
Ensembl chr11:101,221,393...101,230,104
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 chr16:35,711,866...35,738,881
Ensembl chr16:54,812,694...54,844,279
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 chr20:42,346,305...42,354,018
Ensembl chr20:43,432,389...43,440,129
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 1:9,871,700...10,028,704
Ensembl chr 1:11,093,765...11,249,841
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 8:124,387,561...124,393,551
Ensembl chr 8:127,131,512...127,136,863
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 1:87,837,146...87,850,013
Ensembl chr 1:122,890,505...122,903,585
JBrowse link
G OCA2 OCA2 melanosomal transmembrane protein susceptibility ISO DNA:snp:cds:p.R419Q (rs1800407) (human)
DNA:missense mutation:cds:p.H615R (rs1800414) (human)
DNA:snps:exon, intron:multiple (human)
RGD PMID:15889046, PMID:19710684, PMID:24617981 RGD:9491818, RGD:9491829, RGD:9491831 NCBI chr15:1,811,728...2,192,018
Ensembl chr15:25,181,386...25,523,774
JBrowse link
G PDGFRA platelet derived growth factor receptor alpha ISO ClinVar Annotator: match by term: Cutaneous melanoma ClinVar PMID:24132921 NCBI chr 4:69,639,081...69,709,870
Ensembl chr 4:76,199,382...76,271,097
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 chr 3:176,182,765...176,272,024
Ensembl chr 3:184,355,785...184,441,977
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 chr 5:45,701,219...45,786,652
Ensembl chr 5:47,267,286...47,350,960
JBrowse link
G PPP6C protein phosphatase 6 catalytic subunit ISO ClinVar Annotator: match by term: Malignant melanoma of skin ClinVar PMID:26619011 NCBI chr 9:96,267,918...96,311,159
Ensembl chr 9:124,783,173...124,825,877
JBrowse link
G PTEN phosphatase and tensin homolog ISO ClinVar Annotator: match by term: Cutaneous melanoma
ClinVar Annotator: match by term: Malignant melanoma of skin
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 chr10:84,587,841...84,689,043
Ensembl chr10:88,093,539...88,194,605
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 7:7,039,379...7,068,866 JBrowse link
G RAF1 Raf-1 proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: Cutaneous melanoma
ClinVar Annotator: match by term: Malignant melanoma of skin
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 chr 3:12,510,084...12,590,598
Ensembl chr 3:12,853,415...12,932,871
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 chr2B:84,633,272...84,678,602
Ensembl chr2B:202,530,200...202,573,346
JBrowse link
G SF3B2 splicing factor 3b subunit 2 ISO ClinVar Annotator: match by term: Malignant melanoma of skin ClinVar PMID:26619011 NCBI chr11:61,416,764...61,433,334
Ensembl chr11:64,743,629...64,759,772
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 chr 5:76,357,549...76,398,571
Ensembl chr 5:81,743,254...81,784,565
JBrowse link
G SNAPC5 small nuclear RNA activating complex polypeptide 5 ISO ClinVar Annotator: match by term: Cutaneous melanoma ClinVar PMID:22197931 NCBI chr15:45,440,597...45,446,007
Ensembl chr15:63,712,363...63,720,420
JBrowse link
G STAT3 signal transducer and activator of transcription 3 disease_progression ISO RGD PMID:21876460 RGD:8694297 NCBI chr17:14,928,689...15,003,644
Ensembl chr17:15,152,358...15,227,067
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 Ensembl chr19:1,188,537...1,210,677 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 chr17:7,699,449...7,717,812
Ensembl chr17:7,684,922...7,706,120
JBrowse link
G TYR tyrosinase susceptibility ISO DNA:missense mutation:cds:p.R402Q(human) RGD PMID:21906913 RGD:8694390 NCBI chr11:84,188,557...84,306,686
Ensembl chr11:87,769,606...87,888,138
JBrowse link
G VDR vitamin D receptor no_association
susceptibility
ISO DNA:SNPs: :multiple
DNA:missense mutation, silent mutation: :p,M1T, p.I352 (c.1056T>C) (rs2228570, rs731236) (human)
RGD PMID:16990805, PMID:19615888, PMID:22576141 RGD:8157629, RGD:8158071, RGD:8158075 NCBI chr12:40,828,413...40,891,700
Ensembl chr12:41,702,742...41,766,192
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 chr2B:115,052,768...115,056,479
Ensembl chr2B:233,862,505...233,866,225
JBrowse link
G CLU clusterin ISO RGD PMID:11085517 RGD:8746700 NCBI chr 8:26,867,973...26,884,838
Ensembl chr 8:24,070,053...24,083,523
JBrowse link
G NRG1 neuregulin 1 ISO DNA:hypermethylation: RGD PMID:31892232 RGD:39456089 NCBI chr 8:30,954,852...32,084,411
Ensembl chr 8:29,050,222...29,263,977
JBrowse link
G TLR2 toll like receptor 2 ISO protein:increased expression,altered expression:cytoplasm,membrane, nucleus: RGD PMID:24617037 RGD:8553046 NCBI chr 4:146,024,653...146,091,388
Ensembl chr 4:157,866,977...157,869,331
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 chr17:58,594,956...58,603,570
Ensembl chr17:63,689,082...63,696,142
JBrowse link
G KNSTRN kinetochore localized astrin (SPAG5) binding protein ISO DNA:mutation:cds: p.Ala40Glu (human)
DNA:mutation:cds: p.Ser24Phe(human)
RGD PMID:25194279, PMID:30972880 RGD:28867225, RGD:28867226 NCBI chr15:19,316,854...19,328,425 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 chr 3:186,651,879...186,918,300
Ensembl chr 3:195,199,167...195,474,104
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 chr11:537,488...540,810
Ensembl chr11:568,305...571,078
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 chr16:31,004,393...31,064,546
Ensembl chr16:49,882,751...49,942,629
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 chr11:64,737,006...64,750,353 JBrowse link
G EPAS1 endothelial PAS domain protein 1 ISO protein:increased expression:kidney: RGD PMID:22299048 RGD:11041600 NCBI chr2A:46,403,411...46,492,734
Ensembl chr2A:47,332,308...47,421,560
JBrowse link
G MMP3 matrix metallopeptidase 3 onset ISO RGD PMID:19551141 RGD:7241233 NCBI chr11:97,776,729...97,784,549
Ensembl chr11:101,267,566...101,275,354
JBrowse link
G SLC18A1 solute carrier family 18 member A1 ISO mRNA:increased expression:tumor (human) RGD PMID:16189177 RGD:5131200 NCBI chr 8:19,369,843...19,408,412
Ensembl chr 8:16,318,744...16,353,708
JBrowse link
G VHL von Hippel-Lindau tumor suppressor ISO OMIM NCBI chr 3:10,077,630...10,089,499
Ensembl chr 3:10,430,143...10,440,234
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 chr2B:23,744,271...23,748,106
Ensembl chr2B:140,181,829...140,189,647
JBrowse link
G DARS1 aspartyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Warts, hypogammaglobulinemia, infections, and myelokathexis ClinVar PMID:28492532 NCBI chr2B:23,876,931...23,956,032
Ensembl chr2B:139,977,483...140,056,836
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12752
    sensory system disease 4805
      skin disease 2518
        Skin Neoplasms 227
          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 14
          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 + 51
          skin cancer + 113
Path 2
Term Annotations click to browse term
  disease 12752
    disease of anatomical entity 12282
      nervous system disease 10043
        sensory system disease 4805
          skin disease 2518
            Skin Neoplasms 227
              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 14
              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 + 51
              skin cancer + 113
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.