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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 chrNW_004936727:1,418,342...1,422,005 JBrowse link
G Aire autoimmune regulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:26168014 NCBI chrNW_004936500:125,589...137,071 JBrowse link
G Akt1 AKT serine/threonine kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21351258 NCBI chrNW_004936621:620,163...639,115 JBrowse link
G Anxa1 annexin A1 ISO RGD PMID:22782996 RGD:7421558 NCBI chrNW_004936503:9,124,314...9,142,372 JBrowse link
G Aqp3 aquaporin 3 (Gill blood group) ISO CTD Direct Evidence: marker/mechanism CTD PMID:21401805 NCBI chrNW_004936524:1,963,427...1,969,977 JBrowse link
G Asip agouti signaling protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:18488027 NCBI chrNW_004936561:6,341,667...6,346,440 JBrowse link
G Casp10 caspase 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18563783 NCBI chrNW_004936726:460,556...489,550 JBrowse link
G Casp8 caspase 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18563783 NCBI chrNW_004936726:554,627...596,334 JBrowse link
G Cat catalase disease_progression
treatment
ISO RGD PMID:1747937, PMID:21517247 RGD:9479155, RGD:9479189 NCBI chrNW_004936533:3,601,270...3,637,128 JBrowse link
G Cdkn1a cyclin dependent kinase inhibitor 1A ISO RGD PMID:9264409 RGD:8662813 NCBI chrNW_004936476:22,717,308...22,725,127 JBrowse link
G Cebpa CCAAT enhancer binding protein alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:21346772 NCBI chrNW_004936570:2,513,561...2,516,213 JBrowse link
G Csf3 colony stimulating factor 3 ISO CTD Direct Evidence: therapeutic CTD PMID:9774950 NCBI chrNW_004936490:15,142,526...15,146,375 JBrowse link
G Csnk2a1 casein kinase 2 alpha 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18572023 NCBI chrNW_004936485:17,966,993...18,021,191 JBrowse link
G Csnk2a2 casein kinase 2 alpha 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18572023 NCBI chrNW_004936475:10,030,408...10,073,576 JBrowse link
G Csnk2b casein kinase 2 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:18572023 NCBI chrNW_004936727:1,857,596...1,862,551 JBrowse link
G Ctnnb1 catenin beta 1 ISO protein:increased expression:cytosol: RGD PMID:11517342 RGD:10395257 NCBI chrNW_004936473:29,999,542...30,034,610 JBrowse link
G Cyld CYLD lysine 63 deubiquitinase susceptibility ISO familial cylindromatosis, OMIM:132700;DNA:nonsense mutations RGD PMID:10835629 RGD:1601033 NCBI chrNW_004936475:3,750,917...3,812,118 JBrowse link
G Ephx1 epoxide hydrolase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26295053 NCBI chrNW_004936526:2,589,254...2,652,831 JBrowse link
G Erbb4 erb-b2 receptor tyrosine kinase 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19718025 NCBI chrNW_004936586:4,065,767...5,100,690 JBrowse link
G Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:17050553 NCBI chrNW_004936706:1,816,561...1,829,638 JBrowse link
G Flt1 fms related receptor tyrosine kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19718025 NCBI chrNW_004936472:23,442,946...23,617,523 JBrowse link
G Gjb2 gap junction protein beta 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:7586191 NCBI chrNW_004936720:1,528,205...1,530,296 JBrowse link
G Gjb5 gap junction protein beta 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:7586191 NCBI chrNW_004936474:17,402,804...17,406,080 JBrowse link
G Gli2 GLI family zinc finger 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10700170 NCBI chrNW_004936469:49,616,552...49,788,760 JBrowse link
G Hcar2 hydroxycarboxylic acid receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21655214 NCBI chrNW_004936558:1,899,313...1,901,409 JBrowse link
G Hgf hepatocyte growth factor susceptibility ISO RGD PMID:10919643 RGD:8548621 NCBI chrNW_004936734:354,798...428,356 JBrowse link
G Hif1a hypoxia inducible factor 1 subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:19276359 NCBI chrNW_004936495:5,770,988...5,816,157 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 chrNW_004936888:375,372...378,125 JBrowse link
G Igf1 insulin like growth factor 1 ISO CTD Direct Evidence: marker/mechanism RGD
CTD
PMID:9135074, PMID:24353828 RGD:8549453 NCBI chrNW_004936492:11,709,623...11,784,028 JBrowse link
G Igf1r insulin like growth factor 1 receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:10365914 NCBI chrNW_004936483:4,563,995...4,860,231 JBrowse link
G Il1a interleukin 1 alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:8435107 NCBI chrNW_004936783:1,210,715...1,218,315 JBrowse link
G Ivl involucrin ISO CTD Direct Evidence: marker/mechanism CTD PMID:18572023 NCBI chrNW_004936580:2,892,316...2,894,085 JBrowse link
G Krt1 keratin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18572023 NCBI chrNW_004936512:10,084,764...10,090,312 JBrowse link
G Krt10 keratin 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18572023 NCBI chrNW_004936490:15,783,636...15,788,605 JBrowse link
G Map2k4 mitogen-activated protein kinase kinase 4 treatment ISO RGD PMID:21378167 RGD:7495826 NCBI chrNW_004936595:4,762,327...4,828,433 JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18572023 NCBI chrNW_004936514:7,038,240...7,045,873 JBrowse link
G Nfe2l2 nuclear factor, erythroid 2 like 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18572023 NCBI chrNW_004936509:6,589,967...6,621,171 JBrowse link
G Nme2 NME/NM23 nucleoside diphosphate kinase 2 ISO protein:increased expression:tumor (mouse) RGD PMID:14623877 RGD:5132889 NCBI chrNW_004936490:10,634,788...10,640,182 JBrowse link
G Notch1 notch receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27923803 NCBI chrNW_004936669:1,292,016...1,334,061 JBrowse link
G Notch2 notch receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27923803 NCBI chrNW_004936872:454,273...539,544 JBrowse link
G Notch3 notch receptor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27923803 NCBI chrNW_004936596:5,265,984...5,301,430 JBrowse link
G Notch4 notch receptor 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27923803 NCBI chrNW_004936727:1,386,842...1,409,823 JBrowse link
G Nppa natriuretic peptide A ISO CTD Direct Evidence: therapeutic CTD PMID:18004088 NCBI chrNW_004936474:671,362...673,610 JBrowse link
G Nsd1 nuclear receptor binding SET domain protein 1 ISO RGD PMID:22832494 RGD:9590156 NCBI chrNW_004936597:1,426,318...1,577,193 JBrowse link
G Odc1 ornithine decarboxylase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:2591024, PMID:7653998 NCBI chrNW_004936532:6,581,717...6,587,116 JBrowse link
G Plcd1 phospholipase C delta 1 ISO RGD PMID:12805213 RGD:1302551 NCBI chrNW_004936473:27,364,404...27,387,337 JBrowse link
G Pot1 protection of telomeres 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24686849 NCBI chrNW_004936605:836,824...919,099 JBrowse link
G Ppard peroxisome proliferator activated receptor delta ISO CTD Direct Evidence: marker/mechanism|therapeutic CTD PMID:19748995, PMID:21159610 NCBI chrNW_004936476:23,799,285...23,886,606 JBrowse link
G Ptch1 patched 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9581815 NCBI chrNW_004936626:4,241,993...4,301,919 JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17499752, PMID:19748995, PMID:21159610 NCBI chrNW_004936481:3,821,564...3,828,086 JBrowse link
G Ptk2b protein tyrosine kinase 2 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:19718025 NCBI chrNW_004936675:216,970...325,670 JBrowse link
G Rela RELA proto-oncogene, NF-kB subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:23069812 NCBI chrNW_004936599:3,800,142...3,810,583 JBrowse link
G Smo smoothened, frizzled class receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:9581815 NCBI chrNW_004936579:5,893,064...5,917,021 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 chrNW_004936489:11,178,338...11,191,601 JBrowse link
G Sp1 Sp1 transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:22009531 NCBI chrNW_004936512:10,655,116...10,693,025 JBrowse link
G Stat3 signal transducer and activator of transcription 3 ISO RGD PMID:18453544, PMID:19137019 RGD:8694289, RGD:8694294 NCBI chrNW_004936490:17,119,189...17,178,402 JBrowse link
G Tgfb1 transforming growth factor beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:8148055 NCBI chrNW_004936661:3,742,080...3,758,266 JBrowse link
G Tgfbr1 transforming growth factor beta receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21358634 NCBI chrNW_004936524:7,656,523...7,680,043 JBrowse link
G Tp53 tumor protein p53 ISO CTD Direct Evidence: marker/mechanism
DNA:polymorphism,mutations:cds:p.R72P(human)
CTD
RGD
PMID:12635827, PMID:21123835, PMID:22009531, PMID:27923803 RGD:8547834 NCBI chrNW_004936595:919,807...935,367 JBrowse link
G Tyr tyrosinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:18488027 NCBI chrNW_004936736:421,623...519,085 JBrowse link
G Vegfa vascular endothelial growth factor A ISO RGD PMID:15150105 RGD:7421589 NCBI chrNW_004936476:16,245,134...16,261,180 JBrowse link
G Xpa XPA, DNA damage recognition and repair factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:10755388, PMID:16962818 NCBI chrNW_004936524:6,467,365...6,493,556 JBrowse link
G Xrcc3 X-ray repair cross complementing 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11059748, PMID:16501254 NCBI chrNW_004936621:1,462,441...1,474,937 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 chrNW_004936813:474,938...484,753 JBrowse link
G Naga alpha-N-acetylgalactosaminidase ISO Kanzaki Disease, OMIM:609242, DNA:point mutation:exon:R329W RGD PMID:8040340 RGD:1600558 NCBI chrNW_004936718:31,946...55,822 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 chrNW_004936525:8,238,128...8,240,974 JBrowse link
G Il12b interleukin 12B treatment ISO RGD PMID:16114559 RGD:7829774 NCBI chrNW_004936515:4,056,214...4,066,121 JBrowse link
G Il4 interleukin 4 treatment ISO RGD PMID:16114559 RGD:7829774 NCBI chrNW_004936647:2,510,457...2,518,576 JBrowse link
G Ptpn11 protein tyrosine phosphatase non-receptor type 11 ISO protein:increased expression:foreskin RGD PMID:18543080 RGD:39128248 NCBI chrNW_004936668:2,602,261...2,687,903 JBrowse link
G Ptpn6 protein tyrosine phosphatase non-receptor type 6 ISO protein:increased expression:foreskin RGD PMID:18543080 RGD:39128248 NCBI chrNW_004936709:864,206...884,630 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 chrNW_004936538:7,885,816...7,898,308 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 chrNW_004936561:6,341,667...6,346,440 JBrowse link
G Bap1 BRCA1 associated protein 1 ISO CTD Direct Evidence: marker/mechanism RGD
CTD
PMID:25080371, PMID:26719535 RGD:9586038 NCBI chrNW_004936473:3,239,009...3,247,806 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 chrNW_004936469:5,933,163...5,952,190 JBrowse link
G Clptm1l CLPTM1 like ISO CTD Direct Evidence: marker/mechanism CTD PMID:19151717 NCBI chrNW_004936815:421,996...445,577 JBrowse link
G Crnkl1 crooked neck pre-mRNA splicing factor 1 ISO DNA:missense mutation:cds:p.S128F (human) RGD PMID:23774526 RGD:9850250 NCBI chrNW_004936485:328,077...351,323 JBrowse link
G Ctla4 cytotoxic T-lymphocyte associated protein 4 susceptibility ISO DNA:SNP: :rs3087243(human) RGD PMID:19622768 RGD:7411686 NCBI chrNW_004936631:484,356...489,643 JBrowse link
G Erbb2 erb-b2 receptor tyrosine kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26950094 NCBI chrNW_004936490:14,887,062...14,910,038 JBrowse link
G Fbxw7 F-box and WD repeat domain containing 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26950094 NCBI chrNW_004936689:2,261,163...2,449,951 JBrowse link
G Gli2 GLI family zinc finger 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10700170 NCBI chrNW_004936469:49,616,552...49,788,760 JBrowse link
G Hhip hedgehog interacting protein treatment ISO mRNA:increased expression:skin: RGD PMID:15024045 RGD:11552592 NCBI chrNW_004936535:4,210,305...4,305,930 JBrowse link
G Krt5 keratin 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19578363, PMID:20871598 NCBI chrNW_004936512:9,923,593...9,929,517 JBrowse link
G Lats1 large tumor suppressor kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26950094 NCBI chrNW_004936489:2,607,114...2,649,879 JBrowse link
G Mc1r melanocortin 1 receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539553 NCBI chrNW_004936641:193,885...198,730 JBrowse link
G Mycn MYCN proto-oncogene, bHLH transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:26950094 NCBI chrNW_004936493:14,618,176...14,624,201 JBrowse link
G Oca2 OCA2 melanosomal transmembrane protein susceptibility ISO DNA:missense mutation:cds:p.R419Q (rs1800407) (human)
DNA:snps:intron:IVS1+132A>G (rs7495174), IVS1+8550A>G (rs11855019), IVS1+15605G>A (rs7174027) (human)
RGD PMID:19384953, PMID:21270109 RGD:9491840, RGD:9491841 NCBI chrNW_004936471:38,612,450...38,952,150 JBrowse link
G Ogg1 8-oxoguanine DNA glycosylase no_association ISO DNA:missense mutation: :p.S326C (rs1052133)(human) RGD PMID:15466987, PMID:22436579 RGD:8657137, RGD:8657158 NCBI chrNW_004936602:3,411,106...3,418,826 JBrowse link
G Palb2 partner and localizer of BRCA2 ISO ClinVar Annotator: match by term: Basal cell carcinoma ClinVar PMID:27878467 NCBI chrNW_004936501:8,246,927...8,273,258 JBrowse link
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:26950094 NCBI chrNW_004936566:3,924,013...3,951,052 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 chrNW_004936474:27,229,262...27,239,034 JBrowse link
G Ppp6c protein phosphatase 6 catalytic subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:26950094 NCBI chrNW_004936487:13,284,652...13,320,936 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
mRNA:increased expression:skin of body
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
RGD
CTD
PMID:8782823, PMID:9422511, PMID:9581815, PMID:9620294, PMID:10504535, PMID:18854826, PMID:24728327, PMID:25741868, PMID:26950094, PMID:28492532, PMID:30311386 RGD:12801453, RGD:704355 NCBI chrNW_004936626:4,241,993...4,301,919 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 chrNW_004936474:26,052,277...26,069,500 JBrowse link
G Ptpn14 protein tyrosine phosphatase non-receptor type 14 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26950094 NCBI chrNW_004936628:3,739,223...3,916,157 JBrowse link
G Rasa1 RAS p21 protein activator 1 susceptibility ISO ClinVar Annotator: match by term: BCC1
ClinVar Annotator: match by term: Basal cell carcinoma, somatic
DNA:missense mutations:cds: (human)
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
RGD
CTD
PMID:8275088, PMID:25741868, PMID:28492532 RGD:737716 NCBI chrNW_004936469:5,839,560...5,933,049 JBrowse link
G Rb1 RB transcriptional corepressor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26950094 NCBI chrNW_004936565:1,596,227...1,746,706 JBrowse link
G Rpe65 retinoid isomerohydrolase RPE65 ISO mRNA:increased expression:skin (human) RGD PMID:16181461 RGD:9495923 NCBI chrNW_004936591:3,347,346...3,368,062 JBrowse link
G Shh sonic hedgehog signaling molecule ISO DNA, protein:hypermethylation, decreased expression:skin of body RGD PMID:23284750 RGD:12801452 NCBI chrNW_004936527:10,033,095...10,042,713 JBrowse link
G Slc45a2 solute carrier family 45 member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19578363 NCBI chrNW_004936518:7,094,949...7,139,961 JBrowse link
G Smo smoothened, frizzled class receptor susceptibility
disease_progression
ISO ClinVar Annotator: match by term: Basal cell carcinoma, sporadic
ClinVar Annotator: match by term: Carcinoma, Basal Cell
mRNA:increased expression:skin of body
CTD Direct Evidence: marker/mechanism
DNA:missense mutations:cds:p.W535L, p.R562Q (human)
OMIM
ClinVar
RGD
CTD
PMID:9422511, PMID:9581815, PMID:10504535, PMID:19726788, PMID:22679179, PMID:25759020, PMID:26950094 RGD:12801453, RGD:704355 NCBI chrNW_004936579:5,893,064...5,917,021 JBrowse link
G Stk19 serine/threonine kinase 19 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26950094 NCBI chrNW_004936727:1,570,650...1,576,796 JBrowse link
G Sufu SUFU negative regulator of hedgehog signaling ISO CTD Direct Evidence: marker/mechanism CTD PMID:26950094 NCBI chrNW_004936600:3,270,662...3,381,722 JBrowse link
G Tert telomerase reverse transcriptase ISO CTD Direct Evidence: marker/mechanism CTD PMID:19151717 NCBI chrNW_004936815:468,987...492,666 JBrowse link
G Tp53 tumor protein p53 ISO OMIM NCBI chrNW_004936595:919,807...935,367 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 chrNW_004936474:27,221,691...27,227,226 JBrowse link
G Tyr tyrosinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:18488027 NCBI chrNW_004936736:421,623...519,085 JBrowse link
G Vdr vitamin D receptor ISO mRNA:increased expression:skin
DNA:SNPs, haplotype: :rs731236, rs7975232 (human)
RGD PMID:15077124, PMID:22213323 RGD:8158063, RGD:8158076 NCBI chrNW_004936512:5,741,836...5,800,999 JBrowse link
G Xpa XPA, DNA damage recognition and repair factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:17687452 NCBI chrNW_004936524:6,467,365...6,493,556 JBrowse link
G Xrcc3 X-ray repair cross complementing 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16501254 NCBI chrNW_004936621:1,462,441...1,474,937 JBrowse link
G Xrcc5 X-ray repair cross complementing 5 ISO protein:increased expression:epidermal cell, basal cell of epidermis (human) RGD PMID:16497868 RGD:8698657 NCBI chrNW_004936586:1,055,478...1,137,924 JBrowse link
G Xrcc6 X-ray repair cross complementing 6 ISO protein:increased expression:epidermal cell, basal cell of epidermis (human) RGD PMID:16497868 RGD:8698657 NCBI chrNW_004936492:303,843...325,812 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 chrNW_004936537:6,778,317...6,827,384 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 chrNW_004936475:3,750,917...3,812,118 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 chrNW_004936490:11,448,552...11,465,836 JBrowse link
G Npc1 NPC intracellular cholesterol transporter 1 ISO ClinVar Annotator: match by term: Capillary hemangiomas ClinVar PMID:25741868 NCBI chrNW_004936550:2,983,172...3,032,222 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 chrNW_004936491:13,288,986...13,516,878 JBrowse link
G Flt4 fms related receptor tyrosine kinase 4 ISO OMIM NCBI chrNW_004936739:240,572...281,925 JBrowse link
G Kdr kinase insert domain receptor ISO OMIM NCBI chrNW_004936482:17,537,697...17,581,320 JBrowse link
G Myh9 myosin heavy chain 9 ISO ClinVar Annotator: match by term: Hemangioma, capillary infantile ClinVar NCBI chrNW_004936492:4,384,215...4,466,229 JBrowse link
G Slc2a1 solute carrier family 2 member 1 ISO RGD PMID:17554865 RGD:12879502 NCBI chrNW_004936474:24,205,878...24,236,611 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 chrNW_004936602:3,135,790...3,140,622 JBrowse link
Cutaneous Malignant Melanoma, Susceptibility To, 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Stk11 serine/threonine kinase 11 ISO ClinVar Annotator: match by term: FAMILIAL ATYPICAL MOLE-MALIGNANT MELANOMA SYNDROME
ClinVar Annotator: match by term: Malignant melanoma
ClinVar PMID:10201537, PMID:10208439, PMID:25157968 NCBI chrNW_004936588:579,816...601,033 JBrowse link
cutaneous Paget's disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha severity ISO DNA:mutations:multiple: RGD PMID:22522847 RGD:14402410 NCBI chrNW_004936566:3,924,013...3,951,052 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 chrNW_004936594:2,743,466...2,759,482 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 chrNW_004936594:2,760,649...2,768,438 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 chrNW_004936594:2,743,466...2,759,482 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 chrNW_004936594:2,760,649...2,768,438 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 chrNW_004936594:2,760,649...2,768,438 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 chrNW_004936483:15,963,863...15,967,458 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 chrNW_004936482:7,721,815...7,723,395 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 chrNW_004936702:110,625...162,957 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 chrNW_004936545:3,385,821...3,453,861 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 chrNW_004936646:1,886,262...1,889,260 JBrowse link
G Fanca FA complementation group A ISO ClinVar Annotator: match by term: Cutaneous malignant melanoma 5 ClinVar PMID:28492532 NCBI chrNW_004936641:281,119...319,796 JBrowse link
G Klc1 kinesin light chain 1 ISO ClinVar Annotator: match by term: Cutaneous malignant melanoma 6 ClinVar PMID:11059748 NCBI chrNW_004936621:1,471,574...1,505,119 JBrowse link
G Mc1r melanocortin 1 receptor ISO OMIM NCBI chrNW_004936641:193,885...198,730 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 chrNW_004936603:1,682,411...1,858,295 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 chrNW_004936605:836,824...919,099 JBrowse link
G Spire2 spire type actin nucleation factor 2 ISO ClinVar Annotator: match by term: Cutaneous malignant melanoma 5 ClinVar PMID:28492532 NCBI chrNW_004936641:236,135...246,004 JBrowse link
G Tcf25 transcription factor 25 ISO ClinVar Annotator: match by term: Cutaneous malignant melanoma 5 ClinVar PMID:28492532 NCBI chrNW_004936641:202,522...232,962 JBrowse link
G Tert telomerase reverse transcriptase ISO OMIM NCBI chrNW_004936815:468,987...492,666 JBrowse link
G Tspan31 tetraspanin 31 ISO ClinVar Annotator: match by term: Hereditary cutaneous melanoma
ClinVar Annotator: match by term: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 3
ClinVar Annotator: match by term: Cutaneous Malignant Melanoma, Dominant
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 chrNW_004936646:1,883,272...1,886,287 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 chrNW_004936736:421,623...519,085 JBrowse link
G Xrcc3 X-ray repair cross complementing 3 ISO OMIM NCBI chrNW_004936621:1,462,441...1,474,937 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 chrNW_004936524:7,656,523...7,680,043 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 chrNW_004936495:5,770,988...5,816,157 JBrowse link
G Ndrg1 N-myc downstream regulated 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15341671 NCBI chrNW_004936470:16,051,291...16,102,563 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 chrNW_004936526:8,833,921...8,844,484 JBrowse link
G Chrm3 cholinergic receptor muscarinic 3 ISO ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer ClinVar PMID:29909963 NCBI chrNW_004936484:13,953,141...14,373,174 JBrowse link
G Exo1 exonuclease 1 ISO ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer ClinVar PMID:29909963 NCBI chrNW_004936526:8,570,488...8,627,004 JBrowse link
G Fh fumarate hydratase ISO OMIM NCBI chrNW_004936526:8,936,096...8,965,155 JBrowse link
G Fmn2 formin 2 ISO ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer ClinVar PMID:29909963 NCBI chrNW_004936526:9,832,790...10,169,488 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 chrNW_004936526:9,820,276...9,821,907 JBrowse link
G Kmo kynurenine 3-monooxygenase ISO ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer ClinVar PMID:29909963 NCBI chrNW_004936526:8,877,085...8,928,280 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 chrNW_004936526:8,492,840...8,497,028 JBrowse link
G Opn3 opsin 3 ISO ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer ClinVar PMID:29909963 NCBI chrNW_004936526:8,833,495...8,876,631 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 chrNW_004936526:8,055,190...8,447,854 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 chrNW_004936526:9,087,820...9,552,482 JBrowse link
G Ryr2 ryanodine receptor 2 ISO ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer ClinVar PMID:29909963 NCBI chrNW_004936484:15,402,488...15,825,410 JBrowse link
G Wdr64 WD repeat domain 64 ISO ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer ClinVar PMID:29909963 NCBI chrNW_004936526:8,689,313...8,821,950 JBrowse link
G Zp4 zona pellucida glycoprotein 4 ISO ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer ClinVar PMID:29909963 NCBI chrNW_004936484:15,370,443...15,376,564 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 chrNW_004936888:375,372...378,125 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 chrNW_004936888:379,622...397,647 JBrowse link
G Nras NRAS proto-oncogene, GTPase ISO OMIM NCBI chrNW_004936627:73,413...82,590 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 chrNW_004936526:8,936,096...8,965,155 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 chrNW_004936475:3,394,423...3,432,998 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 chrNW_004936477:21,591,772...21,606,289 JBrowse link
G Myc MYC proto-oncogene, bHLH transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:25277525 NCBI chrNW_004936470:20,480,844...20,485,955 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 chrNW_004936473:26,556,636...26,600,830 JBrowse link
G Msh2 mutS homolog 2 ISO OMIM NCBI chrNW_004936508:4,943,987...5,013,356 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 chrNW_004936677:2,248,153...2,290,802 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 chrNW_004936631:2,649,792...2,686,430 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 chrNW_004936619:2,505,300...2,523,500 JBrowse link
G Nf2 neurofibromin 2 ISO OMIM NCBI chrNW_004936657:3,536,212...3,622,999 JBrowse link
G Smarcb1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 ISO OMIM NCBI chrNW_004936619:1,276,239...1,308,945 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 chrNW_004936626:3,704,474...3,973,913 JBrowse link
G Fancc FA complementation group C ISO ClinVar Annotator: match by term: Gorlin syndrome ClinVar PMID:17703323, PMID:22382802, PMID:28492532 NCBI chrNW_004936626:3,980,311...4,147,042 JBrowse link
G Gli1 GLI family zinc finger 1 ISO RGD PMID:15308259 RGD:12801443 NCBI chrNW_004936646:1,622,308...1,629,787 JBrowse link
G Gli2 GLI family zinc finger 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16936257 NCBI chrNW_004936469:49,616,552...49,788,760 JBrowse link
G Ptch1 patched 1 ISO OMIM NCBI chrNW_004936626:4,241,993...4,301,919 JBrowse link
G Ptch2 patched 2 ISO OMIM NCBI chrNW_004936474:26,052,277...26,069,500 JBrowse link
G Pth parathyroid hormone ISO CTD Direct Evidence: marker/mechanism CTD PMID:24803734 NCBI chrNW_004936528:5,081,569...5,084,030 JBrowse link
G Shh sonic hedgehog signaling molecule ISO RGD PMID:9115210 RGD:12802345 NCBI chrNW_004936527:10,033,095...10,042,713 JBrowse link
G Smo smoothened, frizzled class receptor ISO RGD PMID:15308259 RGD:12801443 NCBI chrNW_004936579:5,893,064...5,917,021 JBrowse link
G Sufu SUFU negative regulator of hedgehog signaling ISO OMIM NCBI chrNW_004936600:3,270,662...3,381,722 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 chrNW_004936474:19,826,808...19,846,453 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 chrNW_004936473:29,999,542...30,034,610 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 chrNW_004936474:26,484,316...26,492,652 JBrowse link
G Ovol1 ovo like transcriptional repressor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26873447 NCBI chrNW_004936599:3,732,335...3,742,749 JBrowse link
G Ovol2 ovo like zinc finger 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26873447 NCBI chrNW_004936485:2,096,495...2,128,002 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 chrNW_004936471:3,423,792...3,527,089 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 chrNW_004936569:1,309,140...1,321,923 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 chrNW_004936687:1,728,848...1,803,992 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 chrNW_004936476:22,717,308...22,725,127 JBrowse link
G Lef1 lymphoid enhancer binding factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16565724 NCBI chrNW_004936818:453,635...569,194 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 chrNW_004936503:9,124,314...9,142,372 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 chrNW_004936477:21,591,772...21,606,289 JBrowse link
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha ISO OMIM NCBI chrNW_004936566:3,924,013...3,951,052 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 chrNW_004936888:375,372...378,125 JBrowse link
G Ptch1 patched 1 ISO ClinVar Annotator: match by term: Tumor of the skin ClinVar PMID:30311386 NCBI chrNW_004936626:4,241,993...4,301,919 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 chrNW_004936521:5,639,193...5,671,369 JBrowse link
G Chuk component of inhibitor of nuclear factor kappa B kinase complex ISO RGD PMID:21755017 RGD:13504775 NCBI chrNW_004936636:33,933...78,990 JBrowse link
G Crkl CRK like proto-oncogene, adaptor protein ISO RGD PMID:16391854 RGD:7488899 NCBI chrNW_004936619:2,447,686...2,479,589 JBrowse link
G Ptch1 patched 1 ISO ClinVar Annotator: match by term: Skin cancer ClinVar PMID:30311386 NCBI chrNW_004936626:4,241,993...4,301,919 JBrowse link
G Srsf6 serine and arginine rich splicing factor 6 ISO protein:increased expression:skin (human) RGD PMID:24440982 RGD:11039481 NCBI chrNW_004936530:3,086,944...3,092,780 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 chrNW_004936484:19,713,299...19,721,144 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 chrNW_004936621:620,163...639,115 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 chrNW_004936502:13,323,365...13,335,003 JBrowse link
G B2m beta-2-microglobulin ISO ClinVar Annotator: match by term: Malignant melanoma of skin ClinVar PMID:26619011 NCBI chrNW_004936471:7,646,504...7,655,656 JBrowse link
G Bap1 BRCA1 associated protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25231345, PMID:26719535 NCBI chrNW_004936473:3,239,009...3,247,806 JBrowse link
G Bcl2l12 BCL2 like 12 ISO ClinVar Annotator: match by term: Malignant melanoma of skin ClinVar PMID:26619011 NCBI chrNW_004936664:3,482,562...3,488,663 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 chrNW_004936592:4,728,371...4,833,830 JBrowse link
G Brca2 BRCA2 DNA repair associated disease_progression ISO DNA:SNP: :rs206118, rs3752447, rs10492396 (human) RGD PMID:25243787 RGD:11344896 NCBI chrNW_004936472:26,945,659...27,017,693 JBrowse link
G Cd40 CD40 molecule disease_progression ISO RGD PMID:8952530 RGD:8547772 NCBI chrNW_004936514:6,936,915...6,947,246 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 chrNW_004936646:1,886,262...1,889,260 JBrowse link
G Chaf1b chromatin assembly factor 1 subunit B severity ISO protein:increased expression:skin: RGD PMID:20178651 RGD:9587476 NCBI chrNW_004936500:6,262,207...6,288,833 JBrowse link
G Cnot9 CCR4-NOT transcription complex subunit 9 ISO ClinVar Annotator: match by term: Malignant melanoma of skin ClinVar PMID:26619011 NCBI chrNW_004936569:1,023,057...1,048,968 JBrowse link
G Cnr1 cannabinoid receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28131817 NCBI chrNW_004936510:3,779,930...3,806,615 JBrowse link
G Creb1 cAMP responsive element binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29179997 NCBI chrNW_004936631:3,721,307...3,785,346 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 chrNW_004936694:552,447...663,237 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 chrNW_004936485:328,077...351,323 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 chrNW_004936473:29,999,542...30,034,610 JBrowse link
G Dnmt3b DNA methyltransferase 3 beta disease_progression ISO RGD PMID:21081840 RGD:9589074 NCBI chrNW_004936485:19,547,836...19,570,716 JBrowse link
G 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 chrNW_004936490:14,887,062...14,910,038 JBrowse link
G Erbb4 erb-b2 receptor tyrosine kinase 4 ISO ClinVar Annotator: match by term: Cutaneous melanoma ClinVar PMID:19718025 NCBI chrNW_004936586:4,065,767...5,100,690 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 chrNW_004936527:5,024,077...5,069,152 JBrowse link
G Fanca FA complementation group A disease_progression ISO DNA:SNP: :rs62068372 (human) RGD PMID:25243787 RGD:11344896 NCBI chrNW_004936641:281,119...319,796 JBrowse link
G Fancd2 FA complementation group D2 ISO mRNA,protein:increased expression:skin,nucleus: RGD PMID:21697891 RGD:11046262 NCBI chrNW_004936602:3,162,177...3,220,468 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 chrNW_004936689:2,261,163...2,449,951 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 chrNW_004936588:1,770,777...1,789,143 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 chrNW_004936503:13,098,517...13,276,106 JBrowse link
G Gnas GNAS complex locus ISO ClinVar Annotator: match by term: Malignant melanoma of skin ClinVar PMID:1594625, PMID:1944469, PMID:2549426, PMID:3720010, PMID:7739708, PMID:8766942, PMID:9626141, PMID:12727968, PMID:12970318, PMID:15126527, PMID:16507630, PMID:21835143, PMID:23536913, PMID:24855271, PMID:25157968, PMID:26619011 NCBI chrNW_004936530:1,353,432...1,407,437 JBrowse link
G Hif1a hypoxia inducible factor 1 subunit alpha ISO protein:increased expression:epidermis (human) RGD PMID:19558170 RGD:8695922 NCBI chrNW_004936495:5,770,988...5,816,157 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 chrNW_004936888:375,372...378,125 JBrowse link
G Icam1 intercellular adhesion molecule 1 disease_progression ISO DNA:missense mutation:exon:p.R241G (human) RGD PMID:16313300 RGD:8547698 NCBI chrNW_004936659:616,570...627,172 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 chrNW_004936950:334,894...349,221 JBrowse link
G Jmjd6 jumonji domain containing 6, arginine demethylase and lysine hydroxylase ISO CTD Direct Evidence: marker/mechanism CTD PMID:30619488 NCBI chrNW_004936594:1,760,924...1,771,022 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 chrNW_004936482:17,162,854...17,238,319 JBrowse link
G Knstrn kinetochore localized astrin (SPAG5) binding protein ISO ClinVar Annotator: match by term: Malignant melanoma of skin ClinVar PMID:26619011 NCBI chrNW_004936471:3,838,507...3,849,521 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 chrNW_004936548:2,078,568...2,113,877 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 chrNW_004936888:379,622...397,647 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 chrNW_004936471:26,589,251...26,628,302 JBrowse link
G Map2k2 mitogen-activated protein kinase kinase 2 ISO ClinVar Annotator: match by term: Malignant melanoma of skin
ClinVar Annotator: match by term: Cutaneous melanoma
ClinVar PMID:18042262, PMID:24265153, PMID:24265154, PMID:26619011 NCBI chrNW_004936588:2,338,127...2,377,090 JBrowse link
G Mitf melanocyte inducing transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:22080950 NCBI chrNW_004936603:1,682,411...1,858,295 JBrowse link
G Mmp1 matrix metallopeptidase 1 disease_progression ISO DNA:SNPs, haplotype:promoter:multiple
DNA:polymorphisms, haplotypes:promoter:multiple
RGD PMID:20655738, PMID:22198560 RGD:8549726, RGD:8549727 NCBI chrNW_004936551:5,167,909...5,175,149 JBrowse link
G Mmp2 matrix metallopeptidase 2 severity ISO mRNA:increased expression:skin RGD PMID:12404291, PMID:18251742, PMID:20966734 RGD:13204786, RGD:8657055, RGD:8657075 NCBI chrNW_004936475:7,801,356...7,825,831 JBrowse link
G Mmp9 matrix metallopeptidase 9 disease progression ISO DNA:SNP, missense mutations:promoter, cds:-1562C>T,p.R279Q, p.P574R (human) RGD PMID:12404291, PMID:17346338 RGD:13204786, RGD:8547886 NCBI chrNW_004936514:7,038,240...7,045,873 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 chrNW_004936474:158,376...282,310 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 chrNW_004936470:20,480,844...20,485,955 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 chrNW_004936627:73,413...82,590 JBrowse link
G Oca2 OCA2 melanosomal transmembrane protein susceptibility ISO DNA:snps:exon, intron:multiple (human)
DNA:snp:cds:p.R419Q (rs1800407) (human)
DNA:missense mutation:cds:p.H615R (rs1800414) (human)
RGD PMID:15889046, PMID:19710684, PMID:24617981 RGD:9491818, RGD:9491829, RGD:9491831 NCBI chrNW_004936471:38,612,450...38,952,150 JBrowse link
G Pdgfra platelet derived growth factor receptor alpha ISO ClinVar Annotator: match by term: Cutaneous melanoma ClinVar PMID:24132921 NCBI chrNW_004936482:16,804,129...16,853,539 JBrowse link
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha ISO ClinVar Annotator: match by term: Cutaneous melanoma
ClinVar Annotator: match by term: Malignant melanoma of skin
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 chrNW_004936566:3,924,013...3,951,052 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 chrNW_004936480:1,188,408...1,273,210 JBrowse link
G Ppp6c protein phosphatase 6 catalytic subunit ISO ClinVar Annotator: match by term: Malignant melanoma of skin ClinVar PMID:26619011 NCBI chrNW_004936487:13,284,652...13,320,936 JBrowse link
G Pten phosphatase and tensin homolog ISO ClinVar Annotator: match by term: Malignant melanoma of skin
ClinVar Annotator: match by term: Cutaneous melanoma
ClinVar PMID:1097835, PMID:9467011, PMID:9915974, PMID:10866302, PMID:10978354, PMID:11476841, PMID:11504908, PMID:11875759, PMID:16007494, PMID:16773562, PMID:17526801, PMID:17942903, PMID:18767981, PMID:19457929, PMID:20085938, PMID:20300775, PMID:21659347, PMID:21822720, PMID:21824802, PMID:21828076, PMID:22266152, PMID:22320991, PMID:22327138, PMID:22595938, PMID:23335809, PMID:23399955, PMID:23470840, PMID:24778394, PMID:25157968, PMID:25527629, PMID:25741868, PMID:26619011, PMID:26798346, PMID:27477328, PMID:27535533, PMID:28475857, PMID:28492532, PMID:29359449, PMID:29706350 NCBI chrNW_004936735:1,252,414...1,338,318 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 chrNW_004936750:107,689...122,679 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 chrNW_004936602:1,089,979...1,114,376 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 chrNW_004936506:1,749,591...1,790,860 JBrowse link
G Sf3b2 splicing factor 3b subunit 2 ISO ClinVar Annotator: match by term: Malignant melanoma of skin ClinVar PMID:26619011 NCBI chrNW_004936599:3,477,882...3,494,366 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 chrNW_004936518:7,094,949...7,139,961 JBrowse link
G Snapc5 small nuclear RNA activating complex polypeptide 5 ISO ClinVar Annotator: match by term: Cutaneous melanoma ClinVar PMID:22197931 NCBI chrNW_004936471:26,629,765...26,634,640 JBrowse link
G Stat3 signal transducer and activator of transcription 3 disease_progression ISO RGD PMID:21876460 RGD:8694297 NCBI chrNW_004936490:17,119,189...17,178,402 JBrowse link
G Stk11 serine/threonine kinase 11 ISO ClinVar Annotator: match by term: FAMILIAL ATYPICAL MOLE-MALIGNANT MELANOMA SYNDROME ClinVar PMID:10201537, PMID:10208439, PMID:25157968 NCBI chrNW_004936588:579,816...601,033 JBrowse link
G Stk19 serine/threonine kinase 19 ISO ClinVar Annotator: match by term: Malignant melanoma of skin ClinVar PMID:26619011 NCBI chrNW_004936727:1,570,650...1,576,796 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 chrNW_004936595:919,807...935,367 JBrowse link
G Tyr tyrosinase susceptibility ISO DNA:missense mutation:cds:p.R402Q(human) RGD PMID:21906913 RGD:8694390 NCBI chrNW_004936736:421,623...519,085 JBrowse link
G Vdr vitamin D receptor susceptibility
no_association
ISO DNA:missense mutation, silent mutation: :p,M1T, p.I352 (c.1056T>C) (rs2228570, rs731236) (human)
DNA:SNPs: :multiple
RGD PMID:16990805, PMID:19615888, PMID:22576141 RGD:8157629, RGD:8158071, RGD:8158075 NCBI chrNW_004936512:5,741,836...5,800,999 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 chrNW_004936525:8,238,128...8,240,974 JBrowse link
G Clu clusterin ISO RGD PMID:11085517 RGD:8746700 NCBI chrNW_004936675:499,745...513,515 JBrowse link
G Nrg1 neuregulin 1 ISO DNA:hypermethylation: RGD PMID:31892232 RGD:39456089 NCBI chrNW_004936766:1,104,841...1,306,368 JBrowse link
G Tlr2 toll like receptor 2 ISO protein:increased expression,altered expression:cytoplasm,membrane, nucleus: RGD PMID:24617037 RGD:8553046 NCBI chrNW_004936576:522,234...531,660 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 chrNW_004936541:5,005,211...5,013,439 JBrowse link
G Knstrn kinetochore localized astrin (SPAG5) binding protein ISO DNA:mutation:cds: p.Ser24Phe(human)
DNA:mutation:cds: p.Ala40Glu (human)
RGD PMID:25194279, PMID:30972880 RGD:28867225, RGD:28867226 NCBI chrNW_004936471:3,838,507...3,849,521 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 chrNW_004936578:492,267...705,282 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 chrNW_004936888:375,372...378,125 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 chrNW_004936475:3,750,917...3,812,118 JBrowse link
von Hippel-Lindau disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Epas1 endothelial PAS domain protein 1 ISO protein:increased expression:kidney: RGD PMID:22299048 RGD:11041600 NCBI chrNW_004936508:5,855,748...5,938,879 JBrowse link
G Slc18a1 solute carrier family 18 member A1 ISO mRNA:increased expression:tumor (human) RGD PMID:16189177 RGD:5131200 NCBI chrNW_004936555:4,249,821...4,271,379 JBrowse link
G Vhl von Hippel-Lindau tumor suppressor ISO OMIM NCBI chrNW_004936602:3,135,790...3,140,622 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 chrNW_004936469:39,794,613...39,798,448 JBrowse link
G Dars1 aspartyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Warts, hypogammaglobulinemia, infections, and myelokathexis ClinVar PMID:28492532 NCBI chrNW_004936469:39,921,182...39,979,297 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 11943
    sensory system disease 4609
      skin disease 2414
        Skin Neoplasms 215
          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 0
          large congenital melanocytic nevus 3
          neurilemmomatosis 3
          sebaceous gland neoplasm + 4
          skin benign neoplasm + 48
          skin cancer + 108
Path 2
Term Annotations click to browse term
  disease 11943
    disease of anatomical entity 11504
      nervous system disease 9435
        sensory system disease 4609
          skin disease 2414
            Skin Neoplasms 215
              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 0
              large congenital melanocytic nevus 3
              neurilemmomatosis 3
              sebaceous gland neoplasm + 4
              skin benign neoplasm + 48
              skin cancer + 108
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.