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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: neoplasm of skin;   neoplasm of skin by site;   skin neoplasm;   tumor of the skin
 primary_id: MESH:D012878
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 chr20:4,148,150...4,151,361
Ensembl chr20:4,147,890...4,151,078
JBrowse link
G Aire autoimmune regulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:26168014 NCBI chr20:10,636,058...10,651,060
Ensembl chr20:10,636,123...10,651,060
JBrowse link
G Akt1 AKT serine/threonine kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21351258 NCBI chr 6:131,713,716...131,735,319
Ensembl chr 6:131,713,720...131,733,921
JBrowse link
G Anxa1 annexin A1 ISO RGD PMID:22782996 RGD:7421558 NCBI chr 1:217,861,175...217,877,205
Ensembl chr 1:217,861,175...217,877,343
JBrowse link
G Aqp3 aquaporin 3 (Gill blood group) ISO CTD Direct Evidence: marker/mechanism CTD PMID:21401805 NCBI chr 5:56,239,200...56,244,718
Ensembl chr 5:56,239,201...56,244,720
JBrowse link
G Asip agouti signaling protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:18488027 NCBI chr 3:143,473,584...143,561,170
Ensembl chr 3:143,555,696...143,561,171
JBrowse link
G Casp8 caspase 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18563783 NCBI chr 9:60,263,863...60,312,542
Ensembl chr 9:60,264,075...60,312,542
JBrowse link
G Cat catalase disease_progression
treatment
ISO RGD PMID:1747937 PMID:21517247 RGD:9479155, RGD:9479189 NCBI chr 3:89,842,393...89,874,577
Ensembl chr 3:89,842,399...89,874,478
JBrowse link
G Cdkn1a cyclin-dependent kinase inhibitor 1A ISO RGD PMID:9264409 RGD:8662813 NCBI chr20:7,149,177...7,159,727
Ensembl chr20:7,149,217...7,159,585
JBrowse link
G Cebpa CCAAT/enhancer binding protein alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:21346772 NCBI chr 1:87,759,631...87,762,303
Ensembl chr 1:87,759,433...87,762,412
JBrowse link
G Csf3 colony stimulating factor 3 ISO CTD Direct Evidence: therapeutic CTD PMID:9774950 NCBI chr10:83,660,787...83,664,569
Ensembl chr10:83,661,207...83,663,603
JBrowse link
G Csnk2a1 casein kinase 2 alpha 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18572023 NCBI chr 3:140,709,984...140,756,757
Ensembl chr 3:140,709,991...140,756,696
JBrowse link
G Csnk2a2 casein kinase 2 alpha 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18572023 NCBI chr19:9,556,443...9,596,080
Ensembl chr19:9,556,260...9,596,080
JBrowse link
G Csnk2b casein kinase 2 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:18572023 NCBI chr20:3,700,363...3,705,331
Ensembl chr20:3,698,733...3,707,133
JBrowse link
G Ctnnb1 catenin beta 1 ISO protein:increased expression:cytosol: RGD PMID:11517342 RGD:10395257 NCBI chr 8:120,640,008...120,667,110
Ensembl chr 8:120,639,995...120,667,111
JBrowse link
G Cyld CYLD lysine 63 deubiquitinase susceptibility ISO familial cylindromatosis, OMIM:132700;DNA:nonsense mutations RGD PMID:10835629 RGD:1601033 NCBI chr19:18,310,632...18,373,696
Ensembl chr19:18,314,019...18,373,658
JBrowse link
G Ephx1 epoxide hydrolase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26295053 NCBI chr13:92,714,315...92,744,124
Ensembl chr13:92,714,315...92,790,235
JBrowse link
G Erbb4 erb-b2 receptor tyrosine kinase 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19718025 NCBI chr 9:69,523,733...70,596,743
Ensembl chr 9:69,531,481...70,596,595
JBrowse link
G Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:17050553 NCBI chr 1:79,033,342...79,047,102
Ensembl chr 1:79,033,326...79,047,102
JBrowse link
G Flt1 Fms related receptor tyrosine kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19718025 NCBI chr12:7,296,899...7,468,626
Ensembl chr12:7,297,292...7,468,626
JBrowse link
G Gja1 gap junction protein, alpha 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:7586191 NCBI chr20:35,756,007...35,768,481
Ensembl chr20:35,755,991...35,768,582
JBrowse link
G Gjb2 gap junction protein, beta 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:7586191 NCBI chr15:31,260,390...31,278,222
Ensembl chr15:31,260,357...31,278,177
JBrowse link
G Gjb5 gap junction protein, beta 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:7586191 NCBI chr 5:139,680,670...139,683,588
Ensembl chr 5:139,680,671...139,683,583
JBrowse link
G Gli2 GLI family zinc finger 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10700170 NCBI chr13:29,946,809...30,163,901
Ensembl chr13:29,946,809...30,163,574
JBrowse link
G Gstt1 glutathione S-transferase theta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26295053 NCBI chr20:12,856,613...12,873,586
Ensembl chr20:12,856,669...12,873,585
JBrowse link
G Gypa glycophorin A ISO CTD Direct Evidence: marker/mechanism CTD PMID:17029826 NCBI chr19:27,450,311...27,465,940 JBrowse link
G Hcar2 hydroxycarboxylic acid receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21655214 NCBI chr12:32,726,334...32,727,416
Ensembl chr12:32,726,184...32,728,504
JBrowse link
G Hgf hepatocyte growth factor susceptibility ISO RGD PMID:10919643 RGD:8548621 NCBI chr 4:18,673,736...18,745,582
Ensembl chr 4:18,677,101...18,745,409
JBrowse link
G Hif1a hypoxia inducible factor 1 subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:19276359 NCBI chr 6:92,624,059...92,669,262
Ensembl chr 6:92,624,390...92,669,261
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 More... NCBI chr 1:196,290,127...196,299,823
Ensembl chr 1:196,296,263...196,300,615
JBrowse link
G Igf1 insulin-like growth factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24353828 PMID:9135074 RGD:8549453 NCBI chr 7:22,282,895...22,361,972
Ensembl chr 7:22,282,930...22,359,296
JBrowse link
G Igf1r insulin-like growth factor 1 receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:10365914 NCBI chr 1:121,549,839...121,838,545
Ensembl chr 1:121,550,743...121,831,777
JBrowse link
G Il1a interleukin 1 alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:8435107 NCBI chr 3:116,526,601...116,537,055
Ensembl chr 3:116,526,604...116,536,822
JBrowse link
G Ivl involucrin ISO CTD Direct Evidence: marker/mechanism CTD PMID:18572023 NCBI chr 2:178,146,694...178,160,807
Ensembl chr 2:178,147,061...178,149,100
JBrowse link
G Krt1 keratin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18572023 NCBI chr 7:132,976,618...132,981,844
Ensembl chr 7:132,976,620...132,981,844
JBrowse link
G Krt10 keratin 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18572023 NCBI chr10:84,338,695...84,343,279
Ensembl chr10:84,338,706...84,343,701
JBrowse link
G Krt17 keratin 17 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26168014 NCBI chr10:85,178,673...85,183,392
Ensembl chr10:85,178,675...85,183,392
JBrowse link
G Loricrin loricrin cornified envelope precursor protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:18572023 NCBI chr 2:177,558,062...177,559,980
Ensembl chr 2:177,558,252...177,559,807
JBrowse link
G Map2k4 mitogen activated protein kinase kinase 4 treatment ISO RGD PMID:21378167 RGD:7495826 NCBI chr10:50,343,227...50,447,956
Ensembl chr10:50,344,915...50,447,993
JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18572023 NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
JBrowse link
G Nfe2l2 nuclear factor, erythroid 2-like 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18572023 NCBI chr 3:60,594,239...60,621,785
Ensembl chr 3:60,594,242...60,621,737
JBrowse link
G Nme2 NME/NM23 nucleoside diphosphate kinase 2 ISO protein:increased expression:tumor (mouse) RGD PMID:14623877 RGD:5132889 NCBI chr10:78,898,097...78,903,600
Ensembl chr10:78,897,770...78,903,538
JBrowse link
G Notch1 notch receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27923803 NCBI chr 3:9,277,955...9,323,531
Ensembl chr 3:9,278,086...9,323,531
JBrowse link
G Notch2 notch receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27923803 NCBI chr 2:185,610,594...185,744,088
Ensembl chr 2:185,610,589...185,744,088
JBrowse link
G Notch3 notch receptor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27923803 NCBI chr 7:11,132,984...11,184,025
Ensembl chr 7:11,133,706...11,184,025
JBrowse link
G Notch4 notch receptor 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27923803 NCBI chr20:4,160,362...4,184,466
Ensembl chr20:4,160,445...4,184,465
JBrowse link
G Nppa natriuretic peptide A ISO CTD Direct Evidence: therapeutic CTD PMID:18004088 NCBI chr 5:158,429,042...158,430,351
Ensembl chr 5:158,429,042...158,430,351
JBrowse link
G Nsd1 nuclear receptor binding SET domain protein 1 ISO RGD PMID:22832494 RGD:9590156 NCBI chr17:9,311,963...9,426,373
Ensembl chr17:9,315,237...9,425,358
JBrowse link
G Odc1 ornithine decarboxylase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:2591024 PMID:7653998 NCBI chr 6:40,329,831...40,336,444
Ensembl chr 6:40,329,964...40,336,440
JBrowse link
G Plcd1 phospholipase C, delta 1 ISO RGD PMID:12805213 RGD:1302551 NCBI chr 8:118,795,196...118,818,186
Ensembl chr 8:118,795,201...118,818,186
JBrowse link
G Pot1 protection of telomeres 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24686849 NCBI chr 4:54,205,330...54,263,137
Ensembl chr 4:54,205,332...54,263,042
JBrowse link
G Ppard peroxisome proliferator-activated receptor delta ISO CTD Direct Evidence: marker/mechanism|therapeutic CTD PMID:19748995 PMID:21159610 NCBI chr20:6,298,785...6,363,970
Ensembl chr20:6,298,785...6,363,968
JBrowse link
G Ptch1 patched 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9581815 NCBI chr17:1,542,705...1,607,730
Ensembl chr17:1,542,877...1,607,333
JBrowse link
G Pten phosphatase and tensin homolog ISO RGD PMID:21771908 RGD:127285609 NCBI chr 1:230,631,303...230,696,754
Ensembl chr 1:230,630,338...230,696,838
JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17499752 PMID:19748995 PMID:21159610 NCBI chr13:62,164,080...62,169,770
Ensembl chr13:62,163,932...62,172,188
JBrowse link
G Ptk2b protein tyrosine kinase 2 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:19718025 NCBI chr15:40,360,722...40,481,235
Ensembl chr15:40,360,723...40,481,282
JBrowse link
G Rad50 RAD50 double strand break repair protein ISO ClinVar Annotator: match by term: Tumor of the skin ClinVar PMID:16385572 PMID:19409520 PMID:28492532 NCBI chr10:37,809,353...37,861,309
Ensembl chr10:37,808,726...37,861,396
JBrowse link
G Rela RELA proto-oncogene, NF-kB subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:23069812 NCBI chr 1:202,925,001...202,935,484
Ensembl chr 1:202,924,945...202,935,484
JBrowse link
G Smo smoothened, frizzled class receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:9581815 NCBI chr 4:58,344,101...58,372,828
Ensembl chr 4:58,343,529...58,373,829
JBrowse link
G Sod2 superoxide dismutase 2 disease_progression ISO CTD Direct Evidence: marker/mechanism|therapeutic CTD PMID:11507057 PMID:20454814 PMID:22009531 PMID:25362851 PMID:12032821 More... RGD:8547517, RGD:8547532, RGD:8547525 NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189
JBrowse link
G Sp1 Sp1 transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:22009531 NCBI chr 7:133,541,302...133,571,961
Ensembl chr 7:133,541,491...133,571,961
JBrowse link
G Stat3 signal transducer and activator of transcription 3 ISO RGD PMID:19137019 PMID:18453544 RGD:8694289, RGD:8694294 NCBI chr10:85,811,206...85,863,057
Ensembl chr10:85,811,218...85,863,057
JBrowse link
G Tgfb1 transforming growth factor, beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:8148055 NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847
JBrowse link
G Tgfbr1 transforming growth factor, beta receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21358634 NCBI chr 5:61,653,773...61,710,777
Ensembl chr 5:61,653,233...61,710,777
JBrowse link
G Tp53 tumor protein p53 ISO DNA:polymorphism,mutations:cds:p.R72P(human)
CTD Direct Evidence: marker/mechanism
CTD PMID:12635827 PMID:22009531 PMID:27923803 PMID:21123835 RGD:8547834 NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
JBrowse link
G Tyr tyrosinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:18488027 NCBI chr 1:141,115,036...141,210,207
Ensembl chr 1:141,115,036...141,210,207
JBrowse link
G Vegfa vascular endothelial growth factor A ISO RGD PMID:15150105 RGD:7421589 NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641
JBrowse link
G Xpa XPA, DNA damage recognition and repair factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:10755388 PMID:16962818 NCBI chr 5:60,431,673...60,476,438
Ensembl chr 5:60,431,673...60,475,726
JBrowse link
G Xrcc3 X-ray repair cross complementing 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11059748 PMID:16501254 NCBI chr 6:130,863,405...130,873,765
Ensembl chr 6:130,863,959...130,872,444
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:97,769,227...97,780,646
Ensembl chr  X:97,768,996...97,780,664
JBrowse link
G Naga alpha-N-acetylgalactosaminidase ISO Kanzaki Disease, OMIM:609242, DNA:point mutation:exon:R329W RGD PMID:8040340 RGD:1600558 NCBI chr 7:113,846,358...113,855,430
Ensembl chr 7:113,846,374...113,855,315
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 chr 9:84,389,031...84,391,629
Ensembl chr 9:84,388,904...84,391,629
JBrowse link
G Cd8a CD8a molecule ISO mRNA:decreased expression:zone of skin (human) RGD PMID:25774455 RGD:36174028 NCBI chr 4:103,365,804...103,370,041
Ensembl chr 4:103,365,804...103,370,040
JBrowse link
G Ctla4 cytotoxic T-lymphocyte-associated protein 4 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr 9:62,318,874...62,325,978
Ensembl chr 9:62,319,312...62,324,963
JBrowse link
G Foxp3 forkhead box P3 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr  X:14,908,494...14,924,994
Ensembl chr  X:14,908,494...14,923,838
JBrowse link
G Ifna1 interferon, alpha 1 treatment ISO RGD PMID:25774455 RGD:36174028 NCBI chr 5:103,095,767...103,098,260 JBrowse link
G Il10 interleukin 10 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
JBrowse link
G Il12b interleukin 12B treatment ISO protein:decreased expression:peripheral blood mononuclear cells (human) RGD PMID:16114559 PMID:23754510 RGD:7829774, RGD:40400714 NCBI chr10:28,888,832...28,903,796
Ensembl chr10:28,893,008...28,902,903
JBrowse link
G Il2 interleukin 2 ISO protein:decreased expression:peripheral blood mononuclear cells (human) RGD PMID:23754510 RGD:40400714 NCBI chr 2:120,004,862...120,009,566
Ensembl chr 2:120,004,862...120,009,566
JBrowse link
G Il21 interleukin 21 ISO protein:decreased expression:blood serum (human) RGD PMID:31414711 RGD:127285371 NCBI chr 2:120,119,598...120,126,941
Ensembl chr 2:120,119,444...120,126,996
JBrowse link
G Il4 interleukin 4 treatment ISO protein:increased expression:peripheral blood mononuclear cells (human) RGD PMID:16114559 PMID:23754510 RGD:7829774, RGD:40400714 NCBI chr10:37,771,203...37,776,750
Ensembl chr10:37,771,203...37,776,750
JBrowse link
G Il6 interleukin 6 ISO protein:decreased expression:peripheral blood mononuclear cells (human) RGD PMID:23754510 RGD:40400714 NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
JBrowse link
G Klrk1 killer cell lectin like receptor K1 ISO mRNA,protein:decreased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr 4:163,079,887...163,092,434
Ensembl chr 4:163,081,927...163,092,459
JBrowse link
G Mapk8 mitogen-activated protein kinase 8 treatment ISO mRNA:increased expression:zone of skin (human) RGD PMID:25774455 RGD:36174028 NCBI chr16:8,638,897...8,721,960
Ensembl chr16:8,638,924...8,721,981
JBrowse link
G Myd88 MYD88, innate immune signal transduction adaptor ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr 8:119,074,439...119,078,508
Ensembl chr 8:119,074,437...119,079,415
JBrowse link
G Ncr1 natural cytotoxicity triggering receptor 1 ISO mRNA,protein:decreased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr 1:69,614,744...69,622,570 JBrowse link
G Pdcd1 programmed cell death 1 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr 9:94,418,786...94,431,945
Ensembl chr 9:94,418,791...94,431,937
JBrowse link
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 ISO protein:increased expression:foreskin RGD PMID:18543080 RGD:39128248 NCBI chr12:35,365,436...35,424,925
Ensembl chr12:35,383,144...35,424,925
JBrowse link
G Ptpn6 protein tyrosine phosphatase, non-receptor type 6 ISO protein:increased expression:foreskin RGD PMID:18543080 RGD:39128248 NCBI chr 4:157,526,034...157,550,783
Ensembl chr 4:157,526,035...157,550,984
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 chr10:60,250,198...60,262,593
Ensembl chr10:60,249,708...60,262,646
JBrowse link
G Tgfb1 transforming growth factor, beta 1 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847
JBrowse link
G Tlr2 toll-like receptor 2 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr 2:169,200,620...169,206,819
Ensembl chr 2:169,197,419...169,206,630
JBrowse link
G Tlr3 toll-like receptor 3 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr16:46,821,980...46,837,900
Ensembl chr16:46,822,039...46,836,545
JBrowse link
G Tlr4 toll-like receptor 4 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628
JBrowse link
G Tlr7 toll-like receptor 7 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr  X:27,027,380...27,054,309
Ensembl chr  X:27,027,425...27,054,754
JBrowse link
G Tlr8 toll-like receptor 8 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr  X:27,091,780...27,116,092
Ensembl chr  X:27,091,778...27,116,549
JBrowse link
G Tlr9 toll-like receptor 9 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr 8:106,864,680...106,868,796
Ensembl chr 8:106,864,680...106,868,796
JBrowse link
G Tnf tumor necrosis factor ISO protein:increased expression:peripheral blood mononuclear cells (human) RGD PMID:23754510 RGD:40400714 NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
JBrowse link
G Tnfrsf18 TNF receptor superfamily member 18 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr 5:166,618,461...166,622,353
Ensembl chr 5:166,618,969...166,622,353
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 chr 3:143,473,584...143,561,170
Ensembl chr 3:143,555,696...143,561,171
JBrowse link
G Bap1 Brca1 associated protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26719535 PMID:25080371 RGD:9586038 NCBI chr16:6,446,709...6,455,535
Ensembl chr16:6,446,709...6,455,535
JBrowse link
G Ccnh cyclin H ISO ClinVar Annotator: match by term: Basal cell carcinoma, somatic
ClinVar Annotator: match by term: BCC1
ClinVar PMID:8275088 PMID:25741868 PMID:28492532 NCBI chr 2:15,834,833...15,855,643
Ensembl chr 2:15,834,833...15,855,819
JBrowse link
G Clptm1l CLPTM1-like ISO CTD Direct Evidence: marker/mechanism CTD PMID:19151717 NCBI chr 1:29,667,545...29,683,530
Ensembl chr 1:29,667,545...29,683,530
JBrowse link
G Crnkl1 crooked neck pre-mRNA splicing factor 1 ISO DNA:missense mutation:cds:p.S128F (human) RGD PMID:23774526 RGD:9850250 NCBI chr 3:133,338,593...133,354,329
Ensembl chr 6:1,140,615...1,142,918
Ensembl chr 3:1,140,615...1,142,918
JBrowse link
G Ctla4 cytotoxic T-lymphocyte-associated protein 4 susceptibility ISO DNA:SNP: :rs3087243(human) RGD PMID:19622768 RGD:7411686 NCBI chr 9:62,318,874...62,325,978
Ensembl chr 9:62,319,312...62,324,963
JBrowse link
G Erbb2 erb-b2 receptor tyrosine kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26950094 NCBI chr10:83,411,197...83,435,078
Ensembl chr10:83,411,313...83,435,078
JBrowse link
G Fbxw7 F-box and WD repeat domain containing 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26950094 NCBI chr 2:170,150,552...170,310,698
Ensembl chr 2:170,149,694...170,309,941
JBrowse link
G Gli2 GLI family zinc finger 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10700170 NCBI chr13:29,946,809...30,163,901
Ensembl chr13:29,946,809...30,163,574
JBrowse link
G Hhip Hedgehog-interacting protein treatment ISO mRNA:increased expression:skin: RGD PMID:15024045 PMID:15024045 RGD:11552592, RGD:11552592 NCBI chr19:27,863,684...27,952,528
Ensembl chr19:27,863,213...27,952,528
JBrowse link
G Il6 interleukin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22108589 NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
JBrowse link
G Krt17 keratin 17 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20871598 NCBI chr10:85,178,673...85,183,392
Ensembl chr10:85,178,675...85,183,392
JBrowse link
G Krt5 keratin 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19578363 PMID:20871598 NCBI chr 7:132,846,355...132,851,986
Ensembl chr 7:132,846,136...132,851,850
JBrowse link
G Lats1 large tumor suppressor kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26950094 NCBI chr 1:2,160,411...2,193,640
Ensembl chr 1:2,160,411...2,193,640
JBrowse link
G Mc1r melanocortin 1 receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539553 NCBI chr19:51,452,448...51,455,375 JBrowse link
G Mycn MYCN proto-oncogene, bHLH transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:26950094 NCBI chr 6:35,717,764...35,723,590
Ensembl chr 6:35,717,764...35,723,590
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:21270109 PMID:19384953 RGD:9491840, RGD:9491841 NCBI chr 1:107,116,278...107,446,093
Ensembl chr 1:107,116,278...107,446,074
JBrowse link
G Ogg1 8-oxoguanine DNA glycosylase no_association ISO DNA:missense mutation: :p.S326C (rs1052133)(human) RGD PMID:22436579 PMID:15466987 RGD:8657137, RGD:8657158 NCBI chr 4:146,474,701...146,481,959
Ensembl chr 4:146,474,750...146,484,766
JBrowse link
G Palb2 partner and localizer of BRCA2 ISO ClinVar Annotator: match by term: Basal cell carcinoma ClinVar PMID:17200668 PMID:24136930 PMID:25099575 PMID:25741868 PMID:27878467 More... NCBI chr 1:176,665,076...176,689,053
Ensembl chr 1:176,665,076...176,688,990
JBrowse link
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:26950094 NCBI chr 2:115,175,275...115,249,034
Ensembl chr 2:115,174,984...115,249,032
JBrowse link
G Ppp6c protein phosphatase 6, catalytic subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:26950094 NCBI chr 3:22,929,816...22,962,123
Ensembl chr 3:22,931,577...22,962,113
JBrowse link
G Ptch1 patched 1 susceptibility
disease_progression
ISO ClinVar Annotator: match by term: BCC1
ClinVar Annotator: match by term: Basal cell carcinoma
mRNA:increased expression:skin of body
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Basal cell carcinoma, somatic
ClinVar
OMIM
CTD
PMID:8782823 PMID:9581815 PMID:9620294 PMID:16301862 PMID:16419085 More... RGD:704355, RGD:12801453 NCBI chr17:1,542,705...1,607,730
Ensembl chr17:1,542,877...1,607,333
JBrowse link
G Ptch2 patched 2 susceptibility ISO ClinVar Annotator: match by term: Basal cell carcinoma, somatic
ClinVar Annotator: match by term: BCC1
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:9931336 PMID:25741868 PMID:28492532 NCBI chr 5:130,571,956...130,592,506
Ensembl chr 5:130,572,312...130,592,405
JBrowse link
G Ptpn14 protein tyrosine phosphatase, non-receptor type 14 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26950094 NCBI chr13:101,268,258...101,420,508
Ensembl chr13:101,268,416...101,414,088
JBrowse link
G Rasa1 RAS p21 protein activator 1 susceptibility ISO DNA:missense mutations:cds: (human)
ClinVar Annotator: match by term: BCC1
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Basal cell carcinoma, somatic
ClinVar
CTD
OMIM
PMID:8275088 PMID:25741868 PMID:28492532 PMID:8275088 RGD:737716 NCBI chr 2:15,857,704...15,940,757
Ensembl chr 2:15,857,980...15,940,854
JBrowse link
G Rb1 RB transcriptional corepressor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26950094 NCBI chr15:48,371,295...48,502,473
Ensembl chr15:48,371,296...48,502,302
JBrowse link
G Rpe65 retinoid isomerohydrolase RPE65 ISO mRNA:increased expression:skin (human) RGD PMID:16181461 RGD:9495923 NCBI chr 2:248,766,497...248,798,403
Ensembl chr 2:248,766,612...248,798,403
JBrowse link
G Shh sonic hedgehog signaling molecule ISO DNA, protein:hypermethylation, decreased expression:skin of body RGD PMID:23284750 RGD:12801452 NCBI chr 4:6,954,017...6,963,170
Ensembl chr 4:6,954,017...6,963,170
JBrowse link
G Slc45a2 solute carrier family 45, member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19578363 NCBI chr 2:59,963,599...59,996,408
Ensembl chr 2:59,963,706...59,996,317
JBrowse link
G Smo smoothened, frizzled class receptor susceptibility
disease_progression
ISO DNA:missense mutations:cds:p.W535L, p.R562Q (human)
ClinVar Annotator: match by term: Carcinoma, Basal Cell
mRNA:increased expression:skin of body
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Basal cell carcinoma, sporadic
OMIM
ClinVar
CTD
PMID:9422511 PMID:9581815 PMID:19726788 PMID:22679179 PMID:25759020 More... RGD:704355, RGD:12801453 NCBI chr 4:58,344,101...58,372,828
Ensembl chr 4:58,343,529...58,373,829
JBrowse link
G Stk19 serine/threonine kinase 19 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26950094 NCBI chr20:3,995,590...4,005,117 JBrowse link
G Sufu SUFU negative regulator of hedgehog signaling ISO CTD Direct Evidence: marker/mechanism CTD PMID:26950094 NCBI chr 1:245,257,725...245,355,576
Ensembl chr 1:245,257,768...245,355,577
JBrowse link
G Tert telomerase reverse transcriptase ISO CTD Direct Evidence: marker/mechanism CTD PMID:19151717 NCBI chr 1:29,637,213...29,659,509
Ensembl chr 1:29,637,506...29,659,561
JBrowse link
G Tp53 tumor protein p53 ISO DNA:mutations:cds:
ClinVar Annotator: match by term: Basal cell carcinoma, susceptibility to, 7
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:1565143 PMID:1565144 PMID:1683921 PMID:7732013 PMID:7887414 More... RGD:8547844, RGD:8547848 NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
JBrowse link
G Tyr tyrosinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:18488027 NCBI chr 1:141,115,036...141,210,207
Ensembl chr 1:141,115,036...141,210,207
JBrowse link
G Vdr vitamin D receptor ISO DNA:SNPs, haplotype: :rs731236, rs7975232 (human)
mRNA:increased expression:skin
RGD PMID:22213323 PMID:15077124 RGD:8158063, RGD:8158076 NCBI chr 7:128,987,981...129,037,677
Ensembl chr 7:128,987,981...129,037,677
JBrowse link
G Xpa XPA, DNA damage recognition and repair factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:17687452 NCBI chr 5:60,431,673...60,476,438
Ensembl chr 5:60,431,673...60,475,726
JBrowse link
G Xrcc3 X-ray repair cross complementing 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16501254 NCBI chr 6:130,863,405...130,873,765
Ensembl chr 6:130,863,959...130,872,444
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 chr 9:73,955,220...74,044,020
Ensembl chr 9:73,955,216...74,044,018
JBrowse link
G Xrcc6 X-ray repair cross complementing 6 ISO protein:increased expression:epidermal cell, basal cell of epidermis (human) RGD PMID:16497868 RGD:8698657 NCBI chr 7:113,542,992...113,563,762
Ensembl chr 7:113,543,057...113,563,762
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 chr14:2,187,144...2,231,295
Ensembl chr14:2,187,642...2,230,420
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 ClinVar Annotator: match by term: Spiegler-Brooke syndrome
ClinVar Annotator: match by OMIM:132700
ClinVar Annotator: match by OMIM:605041
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:601606
OMIM
ClinVar
CTD
PMID:10835629 PMID:12190880 PMID:12950348 PMID:14632188 PMID:15854031 More... NCBI chr19:18,310,632...18,373,696
Ensembl chr19:18,314,019...18,373,658
JBrowse link
capillary hemangioma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Npc1 NPC intracellular cholesterol transporter 1 ISO ClinVar Annotator: match by term: Capillary hemangiomas ClinVar PMID:25741868 NCBI chr18:3,379,482...3,425,100
Ensembl chr18:3,379,482...3,425,049
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:7728151 PMID:7987306 PMID:10567493 PMID:12114495 PMID:15611064 More... NCBI chr 4:146,772,483...146,779,376
Ensembl chr 4:146,772,468...146,779,377
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 Braf B-Raf proto-oncogene, serine/threonine kinase ISO OMIM NCBI chr 4:68,375,484...68,510,652
Ensembl chr 4:68,384,649...68,510,463
JBrowse link
G Pot1 protection of telomeres 1 ISO ClinVar Annotator: match by term: DYSPLASTIC NEVUS SYNDROME, HEREDITARY ClinVar PMID:24686846 PMID:28492532 NCBI chr 4:54,205,330...54,263,137
Ensembl chr 4:54,205,332...54,263,042
JBrowse link
G Stk11 serine/threonine kinase 11 ISO ClinVar Annotator: match by term: B-K MOLE SYNDROME ClinVar
OMIM
PMID:10201537 PMID:10208439 PMID:25157968 NCBI chr 7:9,574,553...9,591,315
Ensembl chr 7:9,575,269...9,591,315
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 2:115,175,275...115,249,034
Ensembl chr 2:115,174,984...115,249,032
JBrowse link
dermatopathia pigmentosa reticularis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Krt14 keratin 14 ISO ClinVar Annotator: match by OMIM:125595 OMIM
ClinVar
PMID:1303619 PMID:16960809 NCBI chr10:85,137,932...85,141,990
Ensembl chr10:85,066,802...85,171,799
JBrowse link
epidermal appendage tumor term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tmem207 transmembrane protein 207 ISS MouseDO NCBI chr11:74,251,042...74,270,180 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:9536098 PMID:15042430 PMID:16199547 PMID:17139267 PMID:17576681 More... NCBI chr10:102,982,059...102,999,509 JBrowse link
G Tmc8 transmembrane channel-like 8 ISO ClinVar Annotator: match by term: Epidermodysplasia verruciformis ClinVar PMID:9536098 PMID:10084299 PMID:12426567 PMID:16045695 PMID:16199547 More... NCBI chr10:103,000,038...103,010,601
Ensembl chr10:102,998,402...103,010,590
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 ClinVar Annotator: match by term: EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 1 ClinVar
OMIM
PMID:9536098 PMID:12426567 PMID:15042430 PMID:17139267 PMID:17576681 More... NCBI chr10:102,982,059...102,999,509 JBrowse link
G Tmc8 transmembrane channel-like 8 ISO ClinVar Annotator: match by term: EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 1 ClinVar PMID:12426567 PMID:22158547 PMID:25741868 PMID:28492532 NCBI chr10:103,000,038...103,010,601
Ensembl chr10:102,998,402...103,010,590
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 ClinVar Annotator: match by term: EPIDERMODYSPLASIA VERRUCIFORMIS 2
ClinVar Annotator: match by term: Epidermodysplasia verruciformis, susceptibility to, 2
ClinVar Annotator: match by term: EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 2
ClinVar
OMIM
PMID:10084299 PMID:12426567 PMID:22158547 PMID:25741868 PMID:28492532 More... NCBI chr10:103,000,038...103,010,601
Ensembl chr10:102,998,402...103,010,590
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 ClinVar Annotator: match by term: EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 3 ClinVar
OMIM
PMID:228581 PMID:19702156 PMID:20982046 PMID:21196704 PMID:28646613 More... NCBI chr 1:134,178,331...134,183,895
Ensembl chr 1:134,178,331...134,213,423
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 ClinVar
OMIM
PMID:22850876 NCBI chr14:42,341,135...42,371,971
Ensembl chr14:42,337,751...42,386,369
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 2:94,235,219...94,280,075
Ensembl chr 2:94,234,766...94,280,075
JBrowse link
Familial Cutaneous Collagenoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lemd3 LEM domain containing 3 ISO DNA:transition mutation:intron: 1522+1G>A(human) RGD PMID:17223882 RGD:11553841 NCBI chr 7:56,415,053...56,499,047
Ensembl chr 7:56,305,448...56,502,474
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 ClinVar Annotator: match by term: Hereditary cutaneous melanoma
ClinVar Annotator: match by term: Familial melanoma
ClinVar Annotator: match by term: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 3
ClinVar
OMIM
PMID:5377176 PMID:7652577 PMID:8528263 PMID:8968104 PMID:9228064 More... NCBI chr 7:62,885,647...62,889,562
Ensembl chr 7:62,883,105...62,942,403
JBrowse link
G Cdkn2a cyclin-dependent kinase inhibitor 2A ISO ClinVar Annotator: match by term: Hereditary cutaneous melanoma
ClinVar Annotator: match by term: Familial melanoma
ClinVar Annotator: match by term: Cutaneous malignant melanoma 5
ClinVar Annotator: match by term: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 3
ClinVar Annotator: match by term: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2
ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 2
ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10
ClinVar
OMIM
PMID:2319082 PMID:2677576 PMID:7566978 PMID:7569991 PMID:7614482 More... NCBI chr 5:103,984,949...103,992,143
Ensembl chr 5:103,984,949...104,003,149
JBrowse link
G Cdkn2b cyclin-dependent kinase inhibitor 2B ISO ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:9622062 PMID:15146471 PMID:16905682 PMID:28492532 NCBI chr 5:104,009,839...104,019,082
Ensembl chr 5:104,010,680...104,019,050
JBrowse link
G Fanca FA complementation group A ISO ClinVar Annotator: match by term: Cutaneous malignant melanoma 5 ClinVar PMID:28492532 NCBI chr19:51,304,021...51,362,586
Ensembl chr19:51,304,021...51,362,527
JBrowse link
G Klc1 kinesin light chain 1 ISO ClinVar Annotator: match by term: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 6 ClinVar PMID:11059748 NCBI chr 6:130,823,416...130,866,729
Ensembl chr 6:130,823,419...130,867,031
JBrowse link
G Mc1r melanocortin 1 receptor ISO ClinVar Annotator: match by term: Cutaneous malignant melanoma 5
ClinVar Annotator: match by term: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 5
OMIM
ClinVar
PMID:7581459 PMID:8894704 PMID:8944016 PMID:8990005 PMID:9032047 More... NCBI chr19:51,452,448...51,455,375 JBrowse link
G Mitf melanocyte inducing transcription factor susceptibility ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: MELANOMA AND RENAL CELL CARCINOMA, SUSCEPTIBILITY TO
CTD
ClinVar
OMIM
PMID:2440678 PMID:22012259 PMID:22080950 PMID:22158021 PMID:23167872 More... NCBI chr 4:130,409,020...130,621,145
Ensembl chr 4:130,409,217...130,621,145
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: Familial melanoma
ClinVar Annotator: match by term: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 3
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:9536098 PMID:16199547 PMID:17576681 PMID:23502782 PMID:24686846 More... NCBI chr 4:54,205,330...54,263,137
Ensembl chr 4:54,205,332...54,263,042
JBrowse link
G Spire2 spire-type actin nucleation factor 2 ISO ClinVar Annotator: match by term: Cutaneous malignant melanoma 5 ClinVar PMID:28492532 NCBI chr19:51,373,368...51,411,920
Ensembl chr19:51,373,228...51,411,920
JBrowse link
G Tcf25 transcription factor 25 ISO ClinVar Annotator: match by term: Cutaneous malignant melanoma 5 ClinVar PMID:28492532 NCBI chr19:51,415,341...51,449,725
Ensembl chr19:51,415,543...51,449,723
JBrowse link
G Tert telomerase reverse transcriptase ISO ClinVar Annotator: match by term: Cutaneous malignant melanoma 9 OMIM
ClinVar
PMID:20871597 PMID:22037553 PMID:23066086 PMID:23348503 PMID:23535731 More... NCBI chr 1:29,637,213...29,659,509
Ensembl chr 1:29,637,506...29,659,561
JBrowse link
G Tp53 tumor protein p53 ISO ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:12826609 PMID:25741868 PMID:28492532 NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
JBrowse link
G Tspan31 tetraspanin 31 ISO ClinVar Annotator: match by term: Cutaneous Malignant Melanoma, Dominant
ClinVar Annotator: match by term: Familial melanoma
ClinVar Annotator: match by term: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 3
ClinVar Annotator: match by term: Hereditary cutaneous melanoma
ClinVar PMID:20668451 PMID:21520333 PMID:23718828 PMID:24728327 PMID:24755471 More... NCBI chr 7:62,889,552...62,892,428
Ensembl chr 7:62,889,552...62,898,388
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 More... NCBI chr 1:141,115,036...141,210,207
Ensembl chr 1:141,115,036...141,210,207
JBrowse link
G Xrcc3 X-ray repair cross complementing 3 ISO ClinVar Annotator: match by OMIM:613972 ClinVar
OMIM
PMID:11059748 NCBI chr 6:130,863,405...130,873,765
Ensembl chr 6:130,863,959...130,872,444
JBrowse link
Fanconi-like syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slx1b SLX1 homolog B, structure-specific endonuclease subunit ISS OMIM:227850 MouseDO NCBI chr 1:181,286,190...181,291,739
Ensembl chr 1:181,283,921...181,291,775
JBrowse link
G Slx4 SLX4 structure-specific endonuclease subunit ISS OMIM:227850 MouseDO NCBI chr10:11,526,563...11,549,291
Ensembl chr10:11,528,424...11,549,295
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 OMIM:132800
ClinVar Annotator: match by term: Multiple self-healing squamous epithelioma
ClinVar Annotator: match by term: Multiple self healing squamous epithelioma
ClinVar Annotator: match by term: MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO
CTD Direct Evidence: marker/mechanism
ClinVar
OMIM
CTD
PMID:2647812 PMID:5173258 PMID:8499949 PMID:16928994 PMID:19542084 More... NCBI chr 5:61,653,773...61,710,777
Ensembl chr 5:61,653,233...61,710,777
JBrowse link
hemangioblastoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hif1a hypoxia inducible factor 1 subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:15341671 NCBI chr 6:92,624,059...92,669,262
Ensembl chr 6:92,624,390...92,669,261
JBrowse link
G Ndrg1 N-myc downstream regulated 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15341671 NCBI chr 7:98,684,487...98,725,869
Ensembl chr 7:98,684,487...98,725,880
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 chr13:87,613,610...87,615,475
Ensembl chr13:87,589,298...87,619,862
JBrowse link
G Chrm3 cholinergic receptor, muscarinic 3 ISO ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer ClinVar PMID:29909963 NCBI chr17:60,005,137...60,467,250
Ensembl chr17:60,005,202...60,467,278
JBrowse link
G Exo1 exonuclease 1 ISO ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer ClinVar PMID:29909963 NCBI chr13:87,809,725...87,834,654
Ensembl chr13:87,809,810...87,834,654
JBrowse link
G Fh fumarate hydratase ISO DNA:mutations:multiple (human)
ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer
ClinVar Annotator: match by term: Leiomyoma, multiple cutaneous
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: MULTIPLE CUTANEOUS AND UTERINE LEIOMYOMATA 1, WITH OR WITHOUT RENAL CELL CARCINOMA
ClinVar
CTD
OMIM
PMID:9635293 PMID:11865300 PMID:12761039 PMID:12772087 PMID:14632190 More... RGD:1598939 NCBI chr13:87,524,331...87,550,215
Ensembl chr13:87,524,337...87,550,266
JBrowse link
G Fmn2 formin 2 ISO ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer ClinVar PMID:29909963 NCBI chr13:86,454,256...86,771,437 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 chr13:86,778,543...86,871,509
Ensembl chr13:86,778,500...86,871,615
JBrowse link
G Kmo kynurenine 3-monooxygenase ISO ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer ClinVar PMID:29909963 NCBI chr13:87,557,080...87,589,334
Ensembl chr13:87,557,286...87,588,881
JBrowse link
G Opn3 opsin 3 ISO ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer ClinVar PMID:29909963 NCBI chr13:87,589,330...87,619,847
Ensembl chr13:87,589,333...87,619,847
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 chr13:87,895,694...88,232,868
Ensembl chr13:87,896,369...88,232,868
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 chr13:86,979,269...87,408,834
Ensembl chr13:86,979,279...87,408,888
JBrowse link
G Ryr2 ryanodine receptor 2 ISO ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer ClinVar PMID:29909963 NCBI chr17:58,389,925...58,975,641
Ensembl chr17:58,389,925...58,975,142
JBrowse link
G Wdr64 WD repeat domain 64 ISO ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer ClinVar PMID:29909963 NCBI chr13:87,624,588...87,746,749
Ensembl chr13:87,624,607...87,747,327
JBrowse link
G Zp4 zona pellucida glycoprotein 4 ISO ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer ClinVar PMID:29909963 NCBI chr17:59,005,649...59,012,202
Ensembl chr17:59,005,649...59,012,202
JBrowse link
Infantile Capillary Hemangioma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Antxr1 ANTXR cell adhesion molecule 1 ISO ClinVar Annotator: match by term: Hemangioma, capillary infantile, susceptibility to OMIM
ClinVar
PMID:18931684 NCBI chr 4:119,590,770...119,778,232
Ensembl chr 4:119,590,771...119,778,232
JBrowse link
G Flt4 Fms related receptor tyrosine kinase 4 ISO ClinVar Annotator: match by term: Hemangioma, capillary infantile, susceptibility to OMIM
ClinVar
PMID:11807987 PMID:25741868 PMID:28492532 NCBI chr10:33,913,725...33,954,770
Ensembl chr10:33,913,608...33,954,770
JBrowse link
G Kdr kinase insert domain receptor ISO ClinVar Annotator: match by term: Hemangioma, capillary infantile
ClinVar Annotator: match by term: Hemangioma, capillary infantile, susceptibility to
ClinVar Annotator: match by OMIM:602089
OMIM
ClinVar
PMID:11807987 PMID:18931684 PMID:24033266 PMID:24728327 NCBI chr14:32,217,871...32,261,018
Ensembl chr14:32,217,871...32,261,018
JBrowse link
G Myh9 myosin, heavy chain 9 ISO ClinVar Annotator: match by term: Hemangioma, capillary infantile ClinVar NCBI chr 7:109,343,718...109,424,457
Ensembl chr 7:109,343,706...109,424,457
JBrowse link
G Slc2a1 solute carrier family 2 member 1 ISO RGD PMID:17554865 RGD:12879502 NCBI chr 5:132,717,196...132,745,416
Ensembl chr 5:132,717,196...132,745,416
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 ClinVar Annotator: match by term: Congenital giant melanocytic nevus
ClinVar Annotator: match by term: MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC
OMIM
ClinVar
PMID:16170316 PMID:16329078 PMID:16372351 PMID:16443854 PMID:16835863 More... NCBI chr 1:196,290,127...196,299,823
Ensembl chr 1:196,296,263...196,300,615
JBrowse link
G Lrrc56 leucine rich repeat containing 56 ISO ClinVar Annotator: match by term: MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC
ClinVar Annotator: match by term: Congenital giant melanocytic nevus
ClinVar PMID:16170316 PMID:16329078 PMID:16372351 PMID:16443854 PMID:16835863 More... NCBI chr 1:196,299,843...196,315,170
Ensembl chr 1:196,299,846...196,315,172
JBrowse link
G Nras NRAS proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Giant pigmented hairy nevus
ClinVar Annotator: match by term: MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC
OMIM
ClinVar
PMID:1654209 PMID:2278970 PMID:2674680 PMID:3102434 PMID:3122217 More... NCBI chr 2:190,582,885...190,593,509
Ensembl chr 2:190,582,918...190,591,626
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: Cutaneous leiomyoma
ClinVar Annotator: match by term: Multiple cutaneous leiomyomas
ClinVar PMID:11865300 PMID:12761039 PMID:16575891 PMID:21929734 PMID:22069215 More... NCBI chr13:87,524,331...87,550,215
Ensembl chr13:87,524,337...87,550,266
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 chr19:18,708,792...18,737,500
Ensembl chr19:18,709,022...18,737,494
JBrowse link
Merkel cell carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cd68 Cd68 molecule ISO protein:increased expression:tumor (human) RGD PMID:22050913 RGD:40925916 NCBI chr10:54,381,814...54,383,693
Ensembl chr10:54,381,815...54,383,697
JBrowse link
G Fgfr3 fibroblast growth factor receptor 3 ISO mRNA:decreased expression:skin (human) RGD PMID:28359267 RGD:38500206 NCBI chr14:76,987,242...77,002,671
Ensembl chr14:76,987,993...77,003,341
JBrowse link
G Myc MYC proto-oncogene, bHLH transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:25277525 NCBI chr 7:93,593,705...93,598,633
Ensembl chr 7:93,593,705...93,598,630
JBrowse link
G Spa17 sperm autoantigenic protein 17 ISO mRNA,protein:increased expression:nucleus RGD PMID:31218705 RGD:27226803 NCBI chr 8:37,307,432...37,318,645
Ensembl chr 8:37,307,557...37,318,639
JBrowse link
Muir-Torre syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fhit fragile histidine triad diadenosine triphosphatase ISS OMIM:158320 MouseDO NCBI chr15:13,935,029...15,442,620
Ensembl chr15:13,934,995...15,442,340
JBrowse link
G Mlh1 mutL homolog 1 ISO ClinVar Annotator: match by term: Cutaneous sebaceous neoplasms and keratoacanthomas multiple with gastrointestinal and other carcinomas
ClinVar Annotator: match by term: Muir-Torré syndrome
OMIM
ClinVar
PMID:4063166 PMID:7705822 PMID:8198129 PMID:8751876 PMID:9311737 More... NCBI chr 8:111,196,468...111,233,721
Ensembl chr 8:111,196,468...111,233,617
JBrowse link
G Msh2 mutS homolog 2 ISO ClinVar Annotator: match by term: Cutaneous sebaceous neoplasms and keratoacanthomas multiple with gastrointestinal and other carcinomas
ClinVar Annotator: match by term: Muir-Torré syndrome
OMIM
ClinVar
PMID:7585065 PMID:7713503 PMID:8566964 PMID:8592341 PMID:9002677 More... NCBI chr 6:6,813,793...6,872,960
Ensembl chr 6:6,813,795...6,872,938
JBrowse link
Multiple Self-healing Palmoplantar Carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nlrp1a NLR family, pyrin domain containing 1A ISO ClinVar Annotator: match by term: Palmoplantar carcinoma, multiple self-healing
ClinVar Annotator: match by term: Corneal intraepithelial dyskeratosis and ectodermal dysplasia
OMIM
ClinVar
PMID:17377159 PMID:23349227 PMID:25050600 PMID:25741868 PMID:27662089 NCBI chr10:55,778,560...55,833,639
Ensembl chr10:55,778,560...55,825,180
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 chr 9:64,672,974...64,748,446
Ensembl chr 9:64,709,880...64,744,265
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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Schwannomatosis 2
CTD
ClinVar
OMIM
PMID:16199547 PMID:24033266 PMID:24362817 PMID:25303977 PMID:25335493 More... NCBI chr11:83,487,717...83,503,896
Ensembl chr11:83,487,717...83,503,633
JBrowse link
G Nf2 neurofibromin 2 ISO ClinVar Annotator: match by term: Schwannomatosis 1
ClinVar Annotator: match by OMIM:162091
OMIM
ClinVar
PMID:7798645 PMID:9399891 PMID:25741868 NCBI chr14:79,627,399...79,710,709
Ensembl chr14:79,627,399...79,710,667
JBrowse link
G Smarcb1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 ISO ClinVar Annotator: match by term: Schwannomatosis 1
ClinVar Annotator: match by OMIM:162091
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: SCHWANNOMATOSIS 1, SOMATIC
OMIM
ClinVar
CTD
PMID:17357086 PMID:18285426 PMID:18414213 PMID:18647326 PMID:19124645 More... NCBI chr20:12,741,164...12,763,616
Ensembl chr20:12,741,477...12,763,620
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 ISO ClinVar Annotator: match by term: Gorlin syndrome ClinVar PMID:17703323 PMID:19557015 PMID:22382802 PMID:28492532 NCBI chr17:1,811,922...2,127,316
Ensembl chr17:1,811,980...2,127,331
JBrowse link
G Fancc FA complementation group C ISO ClinVar Annotator: match by term: Gorlin syndrome ClinVar PMID:16301862 PMID:16419085 PMID:17703323 PMID:18830227 PMID:19557015 More... NCBI chr17:1,680,660...1,822,610
Ensembl chr17:1,681,324...1,829,376
JBrowse link
G Gli1 GLI family zinc finger 1 ISO RGD PMID:15308259 RGD:12801443 NCBI chr 7:63,156,926...63,169,579
Ensembl chr 7:63,156,926...63,169,251
JBrowse link
G Gli2 GLI family zinc finger 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16936257 NCBI chr13:29,946,809...30,163,901
Ensembl chr13:29,946,809...30,163,574
JBrowse link
G Ptch1 patched 1 ISO ClinVar Annotator: match by term: Gorlin syndrome
ClinVar Annotator: match by term: Basal cell nevus syndrome
DNA: splice-site mutation :exon
DNA: nonsense mutation:exon:p.W399* (human)
DNA:missense mutation:exon:p.E237EK (897G>A) (human)
DNA:mutations:exon, intron:multiple
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:109400
OMIM
ClinVar
CTD
PMID:1347096 PMID:8302318 PMID:8658145 PMID:8681379 PMID:8840969 More... RGD:13207424, RGD:13207421, RGD:12801443, RGD:12801422, RGD:12798568 NCBI chr17:1,542,705...1,607,730
Ensembl chr17:1,542,877...1,607,333
JBrowse link
G Ptch2 patched 2 ISO ClinVar Annotator: match by term: Gorlin syndrome ClinVar
OMIM
PMID:9536098 PMID:17576681 PMID:18285427 PMID:25741868 PMID:28166811 More... NCBI chr 5:130,571,956...130,592,506
Ensembl chr 5:130,572,312...130,592,405
JBrowse link
G Pth parathyroid hormone ISO CTD Direct Evidence: marker/mechanism CTD PMID:24803734 NCBI chr 1:167,508,121...167,511,530
Ensembl chr 1:167,508,598...167,511,530
JBrowse link
G Shh sonic hedgehog signaling molecule ISO RGD PMID:9115210 RGD:12802345 NCBI chr 4:6,954,017...6,963,170
Ensembl chr 4:6,954,017...6,963,170
JBrowse link
G Smo smoothened, frizzled class receptor ISO RGD PMID:15308259 RGD:12801443 NCBI chr 4:58,344,101...58,372,828
Ensembl chr 4:58,343,529...58,373,829
JBrowse link
G Sufu SUFU negative regulator of hedgehog signaling ISO ClinVar Annotator: match by term: Gorlin syndrome
ClinVar Annotator: match by term: Fifth Phacomatosis
OMIM
ClinVar
PMID:9536098 PMID:12068298 PMID:16199547 PMID:17576681 PMID:19533801 More... NCBI chr 1:245,257,725...245,355,576
Ensembl chr 1:245,257,768...245,355,577
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 ClinVar Annotator: match by term: Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and 46,XX sex reversal ClinVar
OMIM
PMID:16158431 PMID:17041600 NCBI chr 5:137,251,629...137,273,273
Ensembl chr 5:137,251,659...137,272,933
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 ClinVar Annotator: match by term: Pilomatrixoma
ClinVar Annotator: match by term: EPITHELIOMA CALCIFICANS OF MALHERBE
OMIM
ClinVar
PMID:9065402 PMID:9065403 PMID:9294210 PMID:9927029 PMID:10027390 More... NCBI chr 8:120,640,008...120,667,110
Ensembl chr 8:120,639,995...120,667,111
JBrowse link
G Mutyh mutY DNA glycosylase ISO ClinVar Annotator: match by term: Pilomatrixoma
ClinVar Annotator: match by term: MUTYH-associated polyposis
ClinVar PMID:11801590 PMID:11818965 PMID:12393807 PMID:12606733 PMID:15635083 More... NCBI chr 5:130,274,034...130,286,149
Ensembl chr 5:130,274,122...130,286,146
JBrowse link
G Ovol1 ovo like transcriptional repressor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26873447 NCBI chr 1:202,855,261...202,868,858
Ensembl chr 1:202,855,265...202,866,831
JBrowse link
G Ovol2 ovo-like zinc finger 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26873447 NCBI chr 3:131,677,388...131,707,844
Ensembl chr 3:131,677,391...131,708,359
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 ClinVar Annotator: match by term: Pulmonary venoocclusive disease 2, autosomal recessive
ClinVar Annotator: match by term: Familial pulmonary capillary hemangiomatosis
ClinVar Annotator: match by OMIM:234810
OMIM
ClinVar
PMID:24033266 PMID:24135949 PMID:24292273 PMID:25512148 PMID:26387786 More... NCBI chr 3:105,356,261...105,441,630
Ensembl chr 3:105,356,261...105,441,630
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 ClinVar Annotator: match by term: Schopf-Schulz-Passarge syndrome
ClinVar Annotator: match by term: KERATOSIS PALMOPLANTARIS WITH CYSTIC EYELIDS, HYPODONTIA, AND HYPOTRICHOSIS
ClinVar Annotator: match by OMIM:224750
OMIM
ClinVar
PMID:17847007 PMID:19559398 PMID:20163410 PMID:20979233 PMID:21484994 More... NCBI chr 9:76,349,931...76,362,400
Ensembl chr 9:76,349,931...76,362,400
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 ClinVar Annotator: match by term: Keratoderma with scleroatrophy of the extremities OMIM
ClinVar
PMID:4298032 PMID:8731679 PMID:10631162 PMID:24909267 PMID:29409814 NCBI chr 4:94,311,441...94,379,184
Ensembl chr 4:94,311,489...94,372,563
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 chr20:7,149,177...7,159,727
Ensembl chr20:7,149,217...7,159,585
JBrowse link
G Lef1 lymphoid enhancer binding factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16565724 NCBI chr 2:219,666,549...219,779,815
Ensembl chr 2:219,666,592...219,779,794
JBrowse link
seborrheic keratosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Anxa1 annexin A1 ISO RGD PMID:8919037 RGD:7421562 NCBI chr 1:217,861,175...217,877,205
Ensembl chr 1:217,861,175...217,877,343
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 More... NCBI chr14:76,987,242...77,002,671
Ensembl chr14:76,987,993...77,003,341
JBrowse link
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha ISO ClinVar Annotator: match by term: Seborrheic keratosis
ClinVar Annotator: match by term: Keratosis, seborrheic
OMIM
ClinVar
PMID:15016963 PMID:15254419 PMID:15520168 PMID:15608678 PMID:15647370 More... NCBI chr 2:115,175,275...115,249,034
Ensembl chr 2:115,174,984...115,249,032
JBrowse link
skin benign neoplasm term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hras HRas proto-oncogene, GTPase ISO associated with Nevus, Sebaceous of Jadassohn;DNA:mutation:cds:c.37G>C(p.G13R)(human) RGD PMID:22683711 RGD:11098548 NCBI chr 1:196,290,127...196,299,823
Ensembl chr 1:196,296,263...196,300,615
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 chr15:3,821,798...3,849,659
Ensembl chr15:3,821,845...3,849,385
JBrowse link
G Chuk component of inhibitor of nuclear factor kappa B kinase complex ISO RGD PMID:21755017 RGD:13504775 NCBI chr 1:242,959,539...242,995,066
Ensembl chr 1:242,959,760...242,995,065
JBrowse link
G Crkl CRK like proto-oncogene, adaptor protein ISO RGD PMID:16391854 RGD:7488899 NCBI chr11:83,528,788...83,563,214
Ensembl chr11:83,526,530...83,563,238
JBrowse link
G Pml PML nuclear body scaffold severity ISO human gene in a mouse model RGD PMID:19058256 RGD:41404688 NCBI chr 8:58,627,347...58,661,927
Ensembl chr 8:58,628,837...58,658,971
JBrowse link
G Snai1 snail family transcriptional repressor 1 ISS MouseDO NCBI chr 3:156,248,479...156,252,969
Ensembl chr 3:156,248,485...156,252,969
JBrowse link
G Srsf6 serine and arginine rich splicing factor 6 ISO protein:increased expression:skin (human) RGD PMID:24440982 RGD:11039481 NCBI chr 3:151,589,546...151,594,869
Ensembl chr 3:151,589,535...151,594,860
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 chr19:52,529,139...52,549,618
Ensembl chr19:52,529,185...52,540,977
JBrowse link
G Akt1 AKT serine/threonine kinase 1 ISO ClinVar Annotator: match by term: Malignant melanoma of skin ClinVar PMID:17611497 PMID:18256540 PMID:18392055 PMID:18504432 PMID:18611285 More... NCBI chr 6:131,713,716...131,735,319
Ensembl chr 6:131,713,720...131,733,921
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:1,227,392...1,292,356
Ensembl chr  X:1,227,392...1,239,073
JBrowse link
G B2m beta-2 microglobulin ISO ClinVar Annotator: match by term: Malignant melanoma of skin ClinVar PMID:26619011 NCBI chr 3:109,095,740...109,101,764
Ensembl chr 3:109,095,729...109,101,766
JBrowse link
G Bap1 Brca1 associated protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25231345 PMID:26719535 NCBI chr16:6,446,709...6,455,535
Ensembl chr16:6,446,709...6,455,535
JBrowse link
G Bcl2l12 BCL2 like 12 ISO ClinVar Annotator: match by term: Malignant melanoma of skin ClinVar PMID:26619011 NCBI chr 1:95,472,272...95,480,991
Ensembl chr 1:95,472,272...95,480,991
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:12068308 PMID:12198537 PMID:12438234 PMID:12447372 More... NCBI chr 4:68,375,484...68,510,652
Ensembl chr 4:68,384,649...68,510,463
JBrowse link
G Brca2 BRCA2, DNA repair associated disease_progression ISO DNA:SNP: :rs206118, rs3752447, rs10492396 (human) RGD PMID:25243787 RGD:11344896 NCBI chr12:59,492...103,789
Ensembl chr12:59,819...100,567
JBrowse link
G Ccl2 C-C motif chemokine ligand 2 disease_progression ISO DNA:SNP: :2578A>G (human) RGD PMID:17169533 RGD:9491398 NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226
JBrowse link
G Cd40 CD40 molecule disease_progression ISO RGD PMID:8952530 RGD:8547772 NCBI chr 3:153,790,372...153,805,279
Ensembl chr 3:153,790,449...153,805,534
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 More... NCBI chr 7:62,885,647...62,889,562
Ensembl chr 7:62,883,105...62,942,403
JBrowse link
G Cdkn2a cyclin-dependent kinase inhibitor 2A ISO DNA:frameshift mutations, deletions:cds:multiple (human)
ClinVar Annotator: match by term: Cutaneous melanoma
ClinVar Annotator: match by term: Malignant melanoma of skin
CTD Direct Evidence: marker/mechanism
DNA:missense mutation:exon:p.P48L (human)
ClinVar
CTD
PMID:7566978 PMID:7647780 PMID:7666917 PMID:7777061 PMID:7780957 More... RGD:8552276, RGD:8552302 NCBI chr 5:103,984,949...103,992,143
Ensembl chr 5:103,984,949...104,003,149
JBrowse link
G Chaf1b chromatin assembly factor 1 subunit B severity ISO protein:increased expression:skin: RGD PMID:20178651 RGD:9587476 NCBI chr11:33,200,894...33,221,076
Ensembl chr11:33,200,981...33,221,070
JBrowse link
G Cnot9 CCR4-NOT transcription complex subunit 9 ISO ClinVar Annotator: match by term: Malignant melanoma of skin ClinVar PMID:26619011 NCBI chr 9:76,084,269...76,109,111
Ensembl chr 9:76,084,334...76,109,100
JBrowse link
G Cnr1 cannabinoid receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28131817 NCBI chr 5:48,408,543...48,436,099
Ensembl chr 5:48,408,574...48,435,099
JBrowse link
G Creb1 cAMP responsive element binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29179997 NCBI chr 9:65,903,511...65,972,562
Ensembl chr 9:65,903,547...65,970,816
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 More... NCBI chr10:11,335,551...11,461,888
Ensembl chr10:11,335,953...11,461,888
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 chr 3:133,338,593...133,354,329
Ensembl chr 6:1,140,615...1,142,918
Ensembl chr 3:1,140,615...1,142,918
JBrowse link
G Ctnnb1 catenin beta 1 ISO ClinVar Annotator: match by term: Cutaneous melanoma
ClinVar Annotator: match by term: Malignant melanoma of skin
ClinVar PMID:9065402 PMID:9065403 PMID:9294210 PMID:9500465 PMID:9927029 More... NCBI chr 8:120,640,008...120,667,110
Ensembl chr 8:120,639,995...120,667,111
JBrowse link
G Dnmt3b DNA methyltransferase 3 beta disease_progression ISO RGD PMID:21081840 RGD:9589074 NCBI chr 3:142,130,592...142,169,124
Ensembl chr 3:142,130,592...142,169,124
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 chr10:83,411,197...83,435,078
Ensembl chr10:83,411,313...83,435,078
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 4:76,624,399...76,687,362
Ensembl chr 4:76,624,399...76,687,362
JBrowse link
G Fanca FA complementation group A disease_progression ISO DNA:SNP: :rs62068372 (human) RGD PMID:25243787 RGD:11344896 NCBI chr19:51,304,021...51,362,586
Ensembl chr19:51,304,021...51,362,527
JBrowse link
G Fancd2 FA complementation group D2 ISO mRNA,protein:increased expression:skin,nucleus: RGD PMID:21697891 RGD:11046262 NCBI chr 4:146,679,014...146,743,422
Ensembl chr 4:146,679,179...146,743,412
JBrowse link
G Fbn1 fibrillin 1 ISO ClinVar Annotator: match by term: Cutaneous melanoma ClinVar PMID:7611299 PMID:8894692 PMID:9401003 PMID:9536098 PMID:10533071 More... NCBI chr 3:112,554,257...112,750,835
Ensembl chr 3:112,554,925...112,750,889
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 2:170,150,552...170,310,698
Ensembl chr 2:170,149,694...170,309,941
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 More... NCBI chr 7:8,163,752...8,177,636
Ensembl chr 7:8,162,750...8,179,812
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 More... NCBI chr 3:163,071,003...163,136,350
Ensembl chr 3:163,071,417...163,127,262
Ensembl chr 3:163,071,417...163,127,262
JBrowse link
G Grm1 glutamate metabotropic receptor 1 ISS OMIM:155601 | OMIM:608035 | OMIM:609048 | OMIM:612263 | OMIM:613099 | OMIM:613972 | OMIM:614456 | OMIM:615134 | OMIM:615848 MouseDO NCBI chr 1:5,058,285...5,453,170
Ensembl chr 1:5,058,292...5,453,170
JBrowse link
G Gstm1 glutathione S-transferase mu 1 susceptibility ISO DNA:deletion:: (human) RGD PMID:11352862 RGD:12792221 NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411
JBrowse link
G Gstt1 glutathione S-transferase theta 1 susceptibility ISO DNA:deletion:: (human) RGD PMID:11352862 RGD:12792221 NCBI chr20:12,856,613...12,873,586
Ensembl chr20:12,856,669...12,873,585
JBrowse link
G Hif1a hypoxia inducible factor 1 subunit alpha ISO protein:increased expression:epidermis (human) RGD PMID:19558170 RGD:8695922 NCBI chr 6:92,624,059...92,669,262
Ensembl chr 6:92,624,390...92,669,261
JBrowse link
G Hras HRas proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Malignant melanoma of skin ClinVar PMID:1904555 PMID:3510078 PMID:11150980 PMID:12835555 PMID:16155195 More... NCBI chr 1:196,290,127...196,299,823
Ensembl chr 1:196,296,263...196,300,615
JBrowse link
G Icam1 intercellular adhesion molecule 1 disease_progression ISO DNA:missense mutation:exon:p.R241G (human) RGD PMID:16313300 RGD:8547698 NCBI chr 8:19,553,063...19,565,438
Ensembl chr 8:19,553,645...19,565,438
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 More... NCBI chr 9:66,534,146...66,563,703
Ensembl chr 9:66,534,146...66,563,708
JBrowse link
G Jmjd6 jumonji domain containing 6, arginine demethylase and lysine hydroxylase ISO CTD Direct Evidence: marker/mechanism CTD PMID:30619488 NCBI chr10:102,041,131...102,047,182
Ensembl chr10:102,041,120...102,047,182
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 More... NCBI chr14:32,547,459...32,624,694
Ensembl chr14:32,548,877...32,624,652
JBrowse link
G Knstrn kinetochore-localized astrin/SPAG5 binding protein ISO ClinVar Annotator: match by term: Malignant melanoma of skin ClinVar PMID:26619011 NCBI chr 3:105,800,762...105,820,555
Ensembl chr 3:105,800,954...105,820,715
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 More... NCBI chr 4:178,185,418...178,218,484 JBrowse link
G Lrrc56 leucine rich repeat containing 56 ISO ClinVar Annotator: match by term: Malignant melanoma of skin ClinVar PMID:1904555 PMID:3510078 PMID:11150980 PMID:12835555 PMID:16155195 More... NCBI chr 1:196,299,843...196,315,170
Ensembl chr 1:196,299,846...196,315,172
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 More... NCBI chr 8:64,683,449...64,754,900
Ensembl chr 8:64,683,449...64,755,147
JBrowse link
G Map2k2 mitogen activated protein kinase kinase 2 ISO ClinVar Annotator: match by term: Malignant melanoma of skin ClinVar PMID:18042262 PMID:26619011 NCBI chr 7:8,590,729...8,610,279
Ensembl chr 7:8,580,905...8,610,243
JBrowse link
G Mc1r melanocortin 1 receptor ISO ClinVar Annotator: match by term: Cutaneous melanoma ClinVar PMID:7581459 PMID:17616515 PMID:18366057 PMID:21128237 PMID:23647022 More... NCBI chr19:51,452,448...51,455,375 JBrowse link
G Mitf melanocyte inducing transcription factor ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cutaneous melanoma
CTD
ClinVar
PMID:2440678 PMID:22012259 PMID:22080950 PMID:22158021 PMID:23167872 More... NCBI chr 4:130,409,020...130,621,145
Ensembl chr 4:130,409,217...130,621,145
JBrowse link
G Mmp1 matrix metallopeptidase 1 disease_progression ISO DNA:polymorphisms, haplotypes:promoter:multiple
DNA:SNPs, haplotype:promoter:multiple
RGD PMID:20655738 PMID:22198560 RGD:8549726, RGD:8549727 NCBI chr 8:4,658,588...4,679,099
Ensembl chr 8:4,658,588...4,679,097
JBrowse link
G Mmp2 matrix metallopeptidase 2 severity ISO mRNA:increased expression:skin RGD PMID:20966734 PMID:12404291 PMID:18251742 RGD:8657055, RGD:13204786, RGD:8657075 NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870
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:17346338 PMID:12404291 RGD:8547886, RGD:13204786 NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
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 5:158,884,856...158,994,311
Ensembl chr 5:158,884,804...158,994,311
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 7:93,593,705...93,598,633
Ensembl chr 7:93,593,705...93,598,630
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 More... NCBI chr 2:190,582,885...190,593,509
Ensembl chr 2:190,582,918...190,591,626
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:19710684 PMID:24617981 PMID:15889046 RGD:9491818, RGD:9491831, RGD:9491829 NCBI chr 1:107,116,278...107,446,093
Ensembl chr 1:107,116,278...107,446,074
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 More... NCBI chr 2:115,175,275...115,249,034
Ensembl chr 2:115,174,984...115,249,032
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 2:32,878,942...32,963,611
Ensembl chr 2:32,882,032...32,963,631
JBrowse link
G Pot1 protection of telomeres 1 ISO ClinVar Annotator: match by term: DYSPLASTIC NEVUS SYNDROME, HEREDITARY ClinVar PMID:24686846 PMID:28492532 NCBI chr 4:54,205,330...54,263,137
Ensembl chr 4:54,205,332...54,263,042
JBrowse link
G Ppp6c protein phosphatase 6, catalytic subunit ISO ClinVar Annotator: match by term: Malignant melanoma of skin ClinVar PMID:26619011 NCBI chr 3:22,929,816...22,962,123
Ensembl chr 3:22,931,577...22,962,113
JBrowse link
G Pten phosphatase and tensin homolog ISO ClinVar Annotator: match by term: Malignant melanoma of skin ClinVar PMID:9467011 PMID:9915974 PMID:10866302 PMID:11504908 PMID:11875759 More... NCBI chr 1:230,631,303...230,696,754
Ensembl chr 1:230,630,338...230,696,838
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 chr12:11,037,028...11,057,251
Ensembl chr12:11,036,698...11,057,251
JBrowse link
G Raf1 Raf-1 proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: Malignant melanoma of skin ClinVar PMID:1760348 PMID:8601312 PMID:10064593 PMID:12077328 PMID:17603482 More... NCBI chr 4:148,679,534...148,740,265
Ensembl chr 4:148,679,530...148,740,317
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 chr 9:56,492,403...56,532,300
Ensembl chr 9:56,492,403...56,532,300
JBrowse link
G Sf3b2 splicing factor 3b, subunit 2 ISO ClinVar Annotator: match by term: Malignant melanoma of skin ClinVar PMID:26619011 NCBI chr 1:202,570,423...202,590,774
Ensembl chr 1:202,570,423...202,590,759
JBrowse link
G Slc45a2 solute carrier family 45, member 2 ISO ClinVar Annotator: match by term: Malignant melanoma of skin ClinVar PMID:15714523 PMID:17044855 PMID:17999355 PMID:18563784 PMID:18683857 More... NCBI chr 2:59,963,599...59,996,408
Ensembl chr 2:59,963,706...59,996,317
JBrowse link
G Stat3 signal transducer and activator of transcription 3 disease_progression ISO RGD PMID:21876460 RGD:8694297 NCBI chr10:85,811,206...85,863,057
Ensembl chr10:85,811,218...85,863,057
JBrowse link
G Stk11 serine/threonine kinase 11 ISO ClinVar Annotator: match by term: FAMILIAL ATYPICAL MOLE-MALIGNANT MELANOMA SYNDROME ClinVar PMID:10201537 PMID:10208439 PMID:25157968 NCBI chr 7:9,574,553...9,591,315
Ensembl chr 7:9,575,269...9,591,315
JBrowse link
G Stk19 serine/threonine kinase 19 ISO ClinVar Annotator: match by term: Malignant melanoma of skin ClinVar PMID:26619011 NCBI chr20:3,995,590...4,005,117 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 More... NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
JBrowse link
G Tyr tyrosinase susceptibility ISO DNA:missense mutation:cds:p.R402Q(human) RGD PMID:21906913 RGD:8694390 NCBI chr 1:141,115,036...141,210,207
Ensembl chr 1:141,115,036...141,210,207
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:22576141 PMID:19615888 RGD:8157629, RGD:8158075, RGD:8158071 NCBI chr 7:128,987,981...129,037,677
Ensembl chr 7:128,987,981...129,037,677
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 chr 9:84,389,031...84,391,629
Ensembl chr 9:84,388,904...84,391,629
JBrowse link
G Clu clusterin ISO RGD PMID:11085517 RGD:8746700 NCBI chr15:40,161,068...40,200,315
Ensembl chr15:40,174,617...40,200,315
JBrowse link
G Fgf10 fibroblast growth factor 10 ISO protein:increased expression:skin (mouse) RGD PMID:24582960 RGD:126928134 NCBI chr 2:50,801,897...50,875,428
Ensembl chr 2:50,800,992...50,876,866
JBrowse link
G Mir21 microRNA 21 ameliorates ISO RGD PMID:21646541 RGD:41404663 NCBI chr10:71,405,257...71,405,348
Ensembl chr10:71,405,257...71,405,348
JBrowse link
G Nrg1 neuregulin 1 ISO DNA:hypermethylation: RGD PMID:31892232 RGD:39456089 NCBI chr16:59,250,658...60,303,024
Ensembl chr16:59,250,854...60,296,884
JBrowse link
G Tlr2 toll-like receptor 2 ISO protein:increased expression,altered expression:cytoplasm,membrane, nucleus: RGD PMID:24617037 RGD:8553046 NCBI chr 2:169,200,620...169,206,819
Ensembl chr 2:169,197,419...169,206,630
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 chr10:91,723,508...91,732,210
Ensembl chr10:91,723,508...91,732,283
JBrowse link
G Fgf10 fibroblast growth factor 10 ISO Pten conditional KO mouse RGD PMID:24582960 RGD:126928134 NCBI chr 2:50,801,897...50,875,428
Ensembl chr 2:50,800,992...50,876,866
JBrowse link
G Fyn FYN proto-oncogene, Src family tyrosine kinase ISS MouseDO NCBI chr20:42,767,733...42,960,903
Ensembl chr20:42,766,369...42,959,911
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:30972880 PMID:25194279 RGD:28867225, RGD:28867226 NCBI chr 3:105,800,762...105,820,555
Ensembl chr 3:105,800,954...105,820,715
JBrowse link
G Pten phosphatase and tensin homolog ameliorates ISO RGD PMID:24582960 RGD:126928134 NCBI chr 1:230,631,303...230,696,754
Ensembl chr 1:230,630,338...230,696,838
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 chr11:74,838,858...75,049,764
Ensembl chr11:74,838,859...75,049,398
JBrowse link
Trichilemmoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hras HRas proto-oncogene, GTPase ISO associated with Nevus sebaceous; DNA:mutation:exon:c.37G>C (p.G13R)(human) RGD PMID:24890286 RGD:12738400 NCBI chr 1:196,290,127...196,299,823
Ensembl chr 1:196,296,263...196,300,615
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 chr19:18,310,632...18,373,696
Ensembl chr19:18,314,019...18,373,658
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 ClinVar Annotator: match by term: VON HIPPEL-LINDAU SYNDROME, MODIFIER OF OMIM
ClinVar
PMID:10667569 PMID:11459873 PMID:12097293 PMID:23502783 PMID:24870244 NCBI chr 1:200,089,002...200,098,524
Ensembl chr 1:200,089,002...200,098,602
JBrowse link
G Epas1 endothelial PAS domain protein 1 ISO protein:increased expression:kidney: RGD PMID:22299048 RGD:11041600 NCBI chr 6:7,790,236...7,871,246
Ensembl chr 6:7,790,647...7,871,228
JBrowse link
G Mmp3 matrix metallopeptidase 3 onset ISO RGD PMID:19551141 RGD:7241233 NCBI chr 8:4,640,397...4,653,963
Ensembl chr 8:4,640,416...4,653,961
JBrowse link
G Slc18a1 solute carrier family 18 member A1 ISO mRNA:increased expression:tumor (human) RGD PMID:16189177 RGD:5131200 NCBI chr16:20,653,268...20,687,051
Ensembl chr16:20,653,508...20,687,051
JBrowse link
G Vhl von Hippel-Lindau tumor suppressor ISO ClinVar Annotator: match by term: Von Hippel-Lindau syndrome
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:193300
OMIM
ClinVar
CTD
PMID:982991 PMID:1056348 PMID:7553625 PMID:7563486 PMID:7660122 More... NCBI chr 4:146,772,483...146,779,376
Ensembl chr 4:146,772,468...146,779,377
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 DNA:frame shift, nonsense mutations:cds:1016_1017delCT,p.R334X,E343X(human)
ClinVar Annotator: match by term: Warts, hypogammaglobulinemia, infections, and myelokathexis
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:193670
ClinVar
CTD
OMIM
PMID:12692554 PMID:15026312 PMID:15536153 PMID:16275383 PMID:16899028 More... RGD:734860 NCBI chr13:40,077,976...40,081,883
Ensembl chr13:40,077,976...40,081,883
JBrowse link
G Dars1 aspartyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Warts, hypogammaglobulinemia, infections, and myelokathexis ClinVar PMID:28492532 NCBI chr13:39,857,936...39,913,055
Ensembl chr13:39,857,936...39,913,116
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17207
    sensory system disease 5611
      skin disease 2954
        Skin Neoplasms 252
          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 2
          Hamartoma, Precalcaneal Congenital Fibrolipomatous 0
          Hereditary Leiomyomatosis and Renal Cell Cancer 13
          Palmoplantar Hyperkeratosis with Squamous Cell Carcinoma of Skin and Sex Reversal 1
          Phacomatosis Pigmentokeratotica 0
          Progressive Mucinous Histiocytosis 0
          Reactive Angioendotheliomatosis 0
          Rombo Syndrome 0
          Sclerotylosis 1
          Sweat Gland Neoplasms + 1
          Trichoepithelioma, Multiple Familial, 2 1
          Trichoepitheliomas, Multiple Desmoplastic 0
          Trichofolliculoma 0
          Tufted Angioma 0
          acanthoma + 3
          dermatopathia pigmentosa reticularis 1
          large congenital melanocytic nevus 3
          neurilemmomatosis 3
          sebaceous gland neoplasm + 5
          skin benign neoplasm + 73
          skin cancer + 117
Path 2
Term Annotations click to browse term
  disease 17207
    disease of anatomical entity 16553
      nervous system disease 12101
        sensory system disease 5611
          skin disease 2954
            Skin Neoplasms 252
              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 2
              Hamartoma, Precalcaneal Congenital Fibrolipomatous 0
              Hereditary Leiomyomatosis and Renal Cell Cancer 13
              Palmoplantar Hyperkeratosis with Squamous Cell Carcinoma of Skin and Sex Reversal 1
              Phacomatosis Pigmentokeratotica 0
              Progressive Mucinous Histiocytosis 0
              Reactive Angioendotheliomatosis 0
              Rombo Syndrome 0
              Sclerotylosis 1
              Sweat Gland Neoplasms + 1
              Trichoepithelioma, Multiple Familial, 2 1
              Trichoepitheliomas, Multiple Desmoplastic 0
              Trichofolliculoma 0
              Tufted Angioma 0
              acanthoma + 3
              dermatopathia pigmentosa reticularis 1
              large congenital melanocytic nevus 3
              neurilemmomatosis 3
              sebaceous gland neoplasm + 5
              skin benign neoplasm + 73
              skin cancer + 117
paths to the root