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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
 xref: EFO:0004198



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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...92,744,105
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 chr13:29,946,882...30,163,589
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 chr19:27,450,304...27,465,940
Ensembl chr19:27,450,308...27,465,822
JBrowse link
G Hcar2 hydroxycarboxylic acid receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21655214 NCBI chr12:32,726,252...32,728,238
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
RGD
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 1:121,549,831...121,838,548
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...177,560,960
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 NFE2 like bZIP transcription factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18572023 NCBI chr 3:60,594,239...60,621,712
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...78,903,514
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 Nppc natriuretic peptide C ISO CTD Direct Evidence: therapeutic CTD PMID:37352108 NCBI chr 9:87,320,051...87,324,251
Ensembl chr 9:87,320,051...87,324,251
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 1:230,630,443...230,697,070
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 chr13:62,163,936...62,172,193
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 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 4:58,343,626...58,373,823
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
RGD
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
RGD
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...60,475,726
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 CD8 subunit alpha 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 5:103,097,356...103,097,925
Ensembl chr 5:103,097,356...103,097,925
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...28,903,802
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 2:120,117,105...120,127,012
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...69,622,594
Ensembl chr 1:69,616,601...69,660,558
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
RGD
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: BCC1 | ClinVar Annotator: match by term: Basal cell carcinoma, somatic | ClinVar Annotator: match by term: Basal cell carcinoma, susceptibility to, 1 ClinVar PMID:8275088 PMID:18446851 PMID:24038909 PMID:25741868 PMID:28492532 More... NCBI chr 2:15,835,064...15,855,648
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 3:133,337,039...133,354,302
Ensembl chr 6:133,337,039...133,354,302
JBrowse link
G Ctcf CCCTC-binding factor ISO DNA:mutations:multiple (human) RGD PMID:27974201 RGD:151356739 NCBI chr19:33,521,726...33,571,124
Ensembl chr19:33,529,319...33,571,123
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 2:170,149,706...170,311,536
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 chr13:29,946,882...30,163,589
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 7:132,846,132...132,851,861
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
Ensembl chr19:51,453,239...51,454,192
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:17200671 PMID:17200672 PMID:24136930 PMID:25099575 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 disease_progression ISO
ISS
ClinVar Annotator: match by term: BCC1 | ClinVar Annotator: match by term: Basal cell carcinoma | ClinVar Annotator: match by term: Basal cell carcinoma, somatic | ClinVar Annotator: match by term: Basal cell carcinoma, susceptibility to, 1 | ClinVar Annotator: match by term: Basal cell carcinoma, susceptibility to, 7
mRNA:increased expression:skin of body
CTD Direct Evidence: marker/mechanism
ClinVar
MouseDO
OMIM
CTD
RGD
PMID:8782823 PMID:8840969 PMID:9581815 PMID:9620294 PMID:11231326 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 ISO ClinVar Annotator: match by term: Basal cell carcinoma, somatic | ClinVar Annotator: match by term: Basal cell carcinoma, susceptibility to, 1
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:9931336 PMID:25741868 PMID:28492532 PMID:31945512 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 ISO DNA:missense mutations:cds: (human)
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: BCC1 | ClinVar Annotator: match by term: Basal cell carcinoma, somatic | ClinVar Annotator: match by term: Basal cell carcinoma, susceptibility to, 1
CTD
OMIM
ClinVar
RGD
PMID:8275088 PMID:18446851 PMID:22200646 PMID:23801933 PMID:24038909 More... 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 disease_progression ISO DNA:missense mutations:cds:p.W535L, p.R562Q (human)
ClinVar Annotator: match by term: Basal cell carcinoma | ClinVar Annotator: match by term: Basal cell carcinoma, somatic | ClinVar Annotator: match by term: Basal cell carcinoma, susceptibility to, 1
mRNA:increased expression:skin of body
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
RGD
PMID:9422511 PMID:9581815 PMID:19726788 PMID:22679179 PMID:25741868 More... RGD:704355, RGD:12801453 NCBI chr 4:58,343,626...58,373,823
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
Ensembl chr20:3,995,587...4,005,116
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...29,659,561
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
ClinVar Annotator: match by term: Basal cell carcinoma, susceptibility to, 1 | ClinVar Annotator: match by term: Basal cell carcinoma, susceptibility to, 7
CTD Direct Evidence: marker/mechanism
ClinVar
OMIM
CTD
RGD
PMID:1565143 PMID:1565144 PMID:1591732 PMID:1631137 PMID:1683921 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...60,475,726
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 9:73,955,216...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
basaloid squamous cell carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ptch1 patched 1 ISO DNA:missense mutations, nonsense mutations RGD PMID:25395299 RGD:150523793 NCBI chr17:1,542,705...1,607,730
Ensembl chr17:1,542,877...1,607,333
JBrowse link
Becker Nevus Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Actb actin, beta ISO ClinVar Annotator: match by term: BECKER NEVUS, ISOLATED, SOMATIC, MOSAIC OMIM
ClinVar
PMID:28347698 PMID:32170967 NCBI chr12:11,663,112...11,666,697
Ensembl chr12:11,663,109...11,672,877
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
G Tek TEK receptor tyrosine kinase ISO ClinVar Annotator: match by term: Blue rubber bleb nevus ClinVar PMID:10369874 PMID:20301733 PMID:25741868 NCBI chr 5:109,607,077...109,733,805
Ensembl chr 5:109,607,077...109,733,804
JBrowse link
bowenoid papulosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Birc2 baculoviral IAP repeat-containing 2 ISO mRNA:increased expression:perianal skin (human) RGD PMID:20346172 RGD:152998971 NCBI chr 8:4,968,856...4,989,325
Ensembl chr 8:4,968,842...4,988,732
JBrowse link
G Birc3 baculoviral IAP repeat-containing 3 ISO mRNA:increased expression:perianal skin (human) RGD PMID:20346172 RGD:152998971 NCBI chr 8:5,000,844...5,028,470
Ensembl chr 8:5,000,845...5,015,802
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: Brooke-Spiegler syndrome | ClinVar Annotator: match by term: Familial cylindromatosis | ClinVar Annotator: match by term: Familial multiple trichoepitheliomata | ClinVar Annotator: match by term: Trichoepithelioma, multiple familial, 1
CTD Direct Evidence: marker/mechanism
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 Akt3 AKT serine/threonine kinase 3 ISO ClinVar Annotator: match by term: Capillary hemangioma ClinVar PMID:22729224 PMID:23745724 PMID:24705253 PMID:25741868 PMID:28492532 More... NCBI chr13:88,943,708...89,225,831
Ensembl chr13:88,946,091...89,225,708
JBrowse link
G Ccn1 cellular communication network factor 1 disease_progression ISO mRNA:increased expression:skin (human) RGD PMID:33587560 RGD:329845523 NCBI chr 2:234,562,410...234,565,370
Ensembl chr 2:234,562,408...234,565,484
JBrowse link
G Npc1 NPC intracellular cholesterol transporter 1 ISO ClinVar Annotator: match by term: Capillary hemangioma 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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: DYSPLASTIC NEVUS SYNDROME, HEREDITARY
OMIM
CTD
ClinVar
PMID:2500657 PMID:16439621 PMID:16474404 PMID:17366577 PMID:17551924 More... NCBI chr 4:68,375,484...68,510,652
Ensembl chr 4:68,384,649...68,510,463
JBrowse link
G Mc1r melanocortin 1 receptor ISO ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 1 ClinVar PMID:16809487 PMID:17279550 PMID:17316231 PMID:18067130 PMID:18803811 More... NCBI chr19:51,452,448...51,455,375
Ensembl chr19:51,453,239...51,454,192
JBrowse link
G Pot1 protection of telomeres 1 ISO ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 1 ClinVar PMID:24686846 PMID:25741868 PMID:26467025 PMID:28492532 PMID:30451293 More... 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: Melanoma, cutaneous malignant, susceptibility to, 1
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:9536098 PMID:9887330 PMID:10201537 PMID:10208439 PMID:10676634 More... NCBI chr 7:9,574,553...9,591,315
Ensembl chr 7:9,575,269...9,591,315
JBrowse link
G Tert telomerase reverse transcriptase ISO ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 1 ClinVar PMID:25741868 NCBI chr 1:29,637,213...29,659,561
Ensembl chr 1:29,637,506...29,659,561
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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Dermatopathia pigmentosa reticularis
OMIM
CTD
ClinVar
PMID:1303619 PMID:1717157 PMID:10730767 PMID:11710919 PMID:16098032 More... NCBI chr10:85,137,786...85,142,054
Ensembl chr10:85,066,802...85,171,799
JBrowse link
eccrine porocarcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kmt2d lysine methyltransferase 2D ISO ClinVar Annotator: match by term: Eccrine porocarcinoma ClinVar PMID:28492532 NCBI chr 7:129,980,744...130,022,088
Ensembl chr 7:129,962,887...130,020,325
JBrowse link
G Mre11 MRE11 homolog, double strand break repair nuclease ISO ClinVar Annotator: match by term: Eccrine porocarcinoma ClinVar NCBI chr 8:11,618,876...11,680,451
Ensembl chr 8:11,632,354...11,678,279
JBrowse link
G Tbx3 T-box transcription factor 3 ISO ClinVar Annotator: match by term: Eccrine porocarcinoma ClinVar NCBI chr12:36,879,924...36,894,849
Ensembl chr12:36,881,445...36,893,708
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:12426567 PMID:15042430 PMID:16199547 PMID:17139267 More... NCBI chr10:102,982,059...102,999,509
Ensembl chr10:102,971,229...102,998,960
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
G Tnrc6c trinucleotide repeat containing adaptor 6C ISO ClinVar Annotator: match by term: Epidermodysplasia verruciformis ClinVar PMID:28492532 NCBI chr10:102,908,958...102,979,543
Ensembl chr10:102,868,828...102,978,194
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 OMIM
ClinVar
PMID:9536098 PMID:12426567 PMID:15042430 PMID:16199547 PMID:17139267 More... NCBI chr10:102,982,059...102,999,509
Ensembl chr10:102,971,229...102,998,960
JBrowse link
G Tmc8 transmembrane channel-like 8 ISO ClinVar Annotator: match by term: Epidermodysplasia verruciformis, susceptibility to, 1 ClinVar PMID:9536098 PMID:12426567 PMID:17576681 PMID:22158547 PMID:25741868 More... 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 Tmc6 transmembrane channel like 6 ISO ClinVar Annotator: match by term: Epidermodysplasia verruciformis, susceptibility to, 2 ClinVar PMID:9536098 PMID:17576681 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr10:102,982,059...102,999,509
Ensembl chr10:102,971,229...102,998,960
JBrowse link
G Tmc8 transmembrane channel-like 8 ISO ClinVar Annotator: match by term: Epidermodysplasia verruciformis, susceptibility to, 2 OMIM
ClinVar
PMID:9536098 PMID:10084299 PMID:12426567 PMID:17576681 PMID:22158547 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 OMIM
ClinVar
PMID:228581 PMID:19702156 PMID:20982046 PMID:21196704 PMID:28492532 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 OMIM
ClinVar
PMID:22850876 PMID:25741868 PMID:28492532 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
epidermolytic acanthoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Krt10 keratin 10 ISO ClinVar Annotator: match by term: Epidermolytic acanthoma ClinVar PMID:1381287 PMID:7508181 PMID:7509230 PMID:7512983 PMID:21271994 More... NCBI chr10:84,338,695...84,343,279
Ensembl chr10:84,338,706...84,343,701
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 Agap2 ArfGAP with GTPase domain, ankyrin repeat and PH domain 2 ISO ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:28492532 NCBI chr 7:62,897,282...62,914,295
Ensembl chr 7:62,897,282...62,914,295
JBrowse link
G Arhgap9 Rho GTPase activating protein 9 ISO ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:28492532 NCBI chr 7:63,148,573...63,157,025
Ensembl chr 7:63,148,900...63,157,524
JBrowse link
G Arhgef25 Rho guanine nucleotide exchange factor 25 ISO ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:28492532 NCBI chr 7:63,005,938...63,013,325
Ensembl chr 7:63,005,940...63,013,719
JBrowse link
G B4galnt1 beta-1,4-N-acetyl-galactosaminyl transferase 1 ISO ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:28492532 NCBI chr 7:62,988,429...62,996,190
Ensembl chr 7:62,988,930...62,996,190
JBrowse link
G Bap1 Brca1 associated protein 1 ISO ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:25741868 NCBI chr16:6,446,709...6,455,535
Ensembl chr16:6,446,709...6,455,535
JBrowse link
G Cdk4 cyclin-dependent kinase 4 ISO ClinVar Annotator: match by term: Cutaneous Malignant Melanoma, Dominant | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cutaneous Malignant Melanoma, Dominant | ClinVar Annotator: match by term: Cutaneous malignant melanoma 5 | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5
ClinVar Annotator: match by term: Cutaneous Malignant Melanoma, Dominant | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 2 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5
ClinVar Annotator: match by term: Cutaneous Malignant Melanoma, Dominant | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Hereditary cutaneous melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5
OMIM
ClinVar
CTD
PMID:5377176 PMID:7652577 PMID:8528263 PMID:8968104 PMID:9228064 More... NCBI chr 7:62,886,124...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: Familial melanoma | ClinVar Annotator: match by term: Hereditary cutaneous melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 2 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5
ClinVar Annotator: match by term: Cutaneous Malignant Melanoma, Dominant | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Hereditary cutaneous melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 2
ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Hereditary cutaneous melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 2 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cutaneous malignant melanoma 5 | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Hereditary cutaneous melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 2 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5
ClinVar Annotator: match by term: Cutaneous Malignant Melanoma, Dominant | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Hereditary cutaneous melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 2 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5
OMIM
ClinVar
CTD
PMID:539244 PMID:865368 PMID:1038976 PMID:2319082 PMID:2677576 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:28492532 NCBI chr 5:104,009,839...104,019,082
Ensembl chr 5:104,010,680...104,019,050
JBrowse link
G Cyp27b1 cytochrome P450, family 27, subfamily b, polypeptide 1 ISO ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:28492532 NCBI chr 7:62,869,340...62,876,242
Ensembl chr 7:62,871,297...62,876,241
JBrowse link
G Dctn2 dynactin subunit 2 ISO ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:28492532 NCBI chr 7:63,092,061...63,107,560
Ensembl chr 7:63,092,057...63,108,543
JBrowse link
G Ddit3 DNA-damage inducible transcript 3 ISO ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:28492532 NCBI chr 7:63,115,645...63,121,203
Ensembl chr 7:63,116,380...63,121,201
JBrowse link
G Dnah1 dynein, axonemal, heavy chain 1 ISO ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:25741868 NCBI chr16:6,455,514...6,517,103
Ensembl chr16:6,456,002...6,518,350
JBrowse link
G Dtx3 deltex E3 ubiquitin ligase 3 ISO ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:28492532 NCBI chr 7:63,013,769...63,018,431
Ensembl chr 7:63,013,371...63,018,522
JBrowse link
G Eef1akmt3 EEF1A lysine methyltransferase 3 ISO ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:28492532 NCBI chr 7:62,853,304...62,864,558
Ensembl chr 7:62,854,899...62,864,617
JBrowse link
G Fanca FA complementation group A ISO ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 ClinVar PMID:28492532 NCBI chr19:51,304,126...51,362,586
Ensembl chr19:51,304,021...51,362,527
JBrowse link
G Gli1 GLI family zinc finger 1 ISO ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:28492532 NCBI chr 7:63,156,926...63,169,579
Ensembl chr 7:63,156,926...63,169,251
JBrowse link
G Inhbc inhibin subunit beta C ISO ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:28492532 NCBI chr 7:63,184,141...63,197,630
Ensembl chr 7:63,184,142...63,197,630
JBrowse link
G Inhbe inhibin subunit beta E ISO ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:28492532 NCBI chr 7:63,176,221...63,179,209
Ensembl chr 7:63,176,219...63,179,172
JBrowse link
G Kif5a kinesin family member 5A ISO ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:28492532 NCBI chr 7:63,051,894...63,089,024
Ensembl chr 7:63,049,424...63,092,858
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 Lrp1 LDL receptor related protein 1 ISO ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:28492532 NCBI chr 7:63,380,325...63,461,029
Ensembl chr 7:63,380,356...63,460,910
JBrowse link
G Marchf9 membrane associated ring-CH-type finger 9 ISO ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:28492532 NCBI chr 7:62,879,017...62,882,495
Ensembl chr 7:62,879,018...62,882,495
JBrowse link
G Mars1 methionyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:28492532 NCBI chr 7:63,121,142...63,138,550
Ensembl chr 7:63,121,142...63,138,495
JBrowse link
G Mbd6 methyl-CpG binding domain protein 6 ISO ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:28492532 NCBI chr 7:63,107,562...63,115,841
Ensembl chr 7:63,107,562...63,113,274
JBrowse link
G Mc1r melanocortin 1 receptor ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cutaneous malignant melanoma 5 | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5
ClinVar Annotator: match by term: Cutaneous malignant melanoma 5 | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 2 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5
OMIM
CTD
ClinVar
PMID:7581459 PMID:8605020 PMID:8894704 PMID:8944016 PMID:8990005 More... NCBI chr19:51,452,448...51,455,375
Ensembl chr19:51,453,239...51,454,192
JBrowse link
G Mettl1 methyltransferase 1, tRNA methylguanosine ISO ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:28492532 NCBI chr 7:62,864,860...62,869,202
Ensembl chr 7:62,864,853...62,869,202
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 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 8
CTD
OMIM
ClinVar
PMID:2440678 PMID:9536098 PMID:17576681 PMID:22012259 PMID:22080950 More... NCBI chr 4:130,409,020...130,621,145
Ensembl chr 4:130,409,217...130,621,145
JBrowse link
G Ndufa4l2 NDUFA4, mitochondrial complex associated like 2 ISO ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:28492532 NCBI chr 7:63,351,021...63,359,010
Ensembl chr 7:63,356,883...63,359,010
JBrowse link
G Nxph4 neurexophilin 4 ISO ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:28492532 NCBI chr 7:63,367,758...63,376,579
Ensembl chr 7:63,367,761...63,376,579
JBrowse link
G Os9 OS9, endoplasmic reticulum lectin ISO ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:28492532 NCBI chr 7:62,915,498...62,957,591
Ensembl chr 7:62,915,515...62,943,745
JBrowse link
G Pip4k2c phosphatidylinositol-5-phosphate 4-kinase type 2 gamma ISO ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:28492532 NCBI chr 7:63,020,004...63,035,086
Ensembl chr 7:63,020,000...63,035,078
JBrowse link
G Pot1 protection of telomeres 1 ISO ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5
ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 8
ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 2 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 8
ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 2 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 6
ClinVar Annotator: match by term: Cutaneous malignant melanoma 5 | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3
ClinVar Annotator: match by term: Cutaneous malignant melanoma 5 | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5
ClinVar
OMIM
CTD
PMID:9536098 PMID:16199547 PMID:17576681 PMID:19461895 PMID:23502782 More... NCBI chr 4:54,205,330...54,263,137
Ensembl chr 4:54,205,332...54,263,042
JBrowse link
G R3hdm2 R3H domain containing 2 ISO ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:28492532 NCBI chr 7:63,212,519...63,340,574
Ensembl chr 7:63,232,346...63,340,540
JBrowse link
G Shmt2 serine hydroxymethyltransferase 2 ISO ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:28492532 NCBI chr 7:63,358,961...63,364,293
Ensembl chr 7:63,358,961...63,364,236
JBrowse link
G Spire2 spire-type actin nucleation factor 2 ISO ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 ClinVar PMID:28492532 NCBI chr19:51,373,368...51,411,920
Ensembl chr19:51,373,228...51,411,920
JBrowse link
G Stac3 SH3 and cysteine rich domain 3 ISO ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:28492532 NCBI chr 7:63,343,078...63,350,590
Ensembl chr 7:63,343,186...63,350,589
JBrowse link
G Tcf25 transcription factor 25 ISO ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 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 | ClinVar Annotator: match by term: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 9 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 9
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:20871597 PMID:21436073 PMID:22037553 PMID:23066086 PMID:23348503 More... NCBI chr 1:29,637,213...29,659,561
Ensembl chr 1:29,637,506...29,659,561
JBrowse link
G Tp53 tumor protein p53 ISO ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5
ClinVar Annotator: match by term: Familial melanoma
ClinVar PMID:12826609 PMID:25741868 PMID:28492532 PMID:29979965 PMID:30224644 NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
JBrowse link
G Tsfm Ts translation elongation factor, mitochondrial ISO ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:28492532 NCBI chr 7:62,828,997...62,864,784
Ensembl chr 7:62,845,488...62,864,769
JBrowse link
G Tspan31 tetraspanin 31 ISO ClinVar Annotator: match by term: Cutaneous Malignant Melanoma, Dominant | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5
ClinVar Annotator: match by term: Cutaneous Malignant Melanoma, Dominant | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5
ClinVar PMID:9536098 PMID:17576681 PMID:20668451 PMID:21520333 PMID:23718828 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, cutaneous malignant, susceptibility to, 10
ClinVar Annotator: match by term: MELANOMA AND RENAL CELL CARCINOMA, SUSCEPTIBILITY TO
ClinVar PMID:666627 PMID:1429711 PMID:1820207 PMID:7704033 PMID:9158138 More... NCBI chr 1:141,115,036...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 term: Melanoma, cutaneous malignant, susceptibility to, 6
CTD Direct Evidence: marker/mechanism
ClinVar
OMIM
CTD
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 chr10:11,526,623...11,549,313
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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Ferguson-Smith type epithelioma | ClinVar Annotator: match by term: Multiple self-healing squamous epithelioma
CTD
OMIM
ClinVar
PMID:2647812 PMID:5173258 PMID:8499949 PMID:16596670 PMID:16791849 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 Cxcr4 C-X-C motif chemokine receptor 4 ISO mRNA,protein:increased expression:temporal lobe : RGD PMID:27388534 RGD:155641257 NCBI chr13:40,077,976...40,081,883
Ensembl chr13:40,077,976...40,081,883
JBrowse link
G Dll4 delta like canonical Notch ligand 4 ISO mRNA,protein:increased expression:temporal lobe : RGD PMID:27388534 RGD:155641257 NCBI chr 3:106,317,114...106,327,004
Ensembl chr 3:106,316,986...106,326,931
JBrowse link
G Hey1 hes-related family bHLH transcription factor with YRPW motif 1 ISO mRNA,protein:increased expression:temporal lobe : RGD PMID:27388534 RGD:155641257 NCBI chr 2:93,096,605...93,100,316
Ensembl chr 2:93,095,498...93,100,312
JBrowse link
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
G Notch4 notch receptor 4 ISO mRNA,protein:increased expression:temporal lobe : RGD PMID:27388534 RGD:155641257 NCBI chr20:4,160,362...4,184,466
Ensembl chr20:4,160,445...4,184,465
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 chr13:87,609,647...87,619,868
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)
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer | ClinVar Annotator: match by term: Leiomyoma, multiple cutaneous
OMIM
CTD
ClinVar
RGD
PMID:2314594 PMID:8200987 PMID:9300800 PMID:9536098 PMID:9635293 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
Ensembl chr13:86,453,926...86,771,411
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 chr13:87,589,333...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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Capillary infantile hemangioma
CTD
ClinVar
OMIM
PMID:18931684 PMID:25741868 PMID:28492532 NCBI chr 4:119,590,770...119,778,232
Ensembl chr 4:119,590,771...119,778,232
JBrowse link
G Ccnh cyclin H ISO ClinVar Annotator: match by term: Capillary infantile hemangioma ClinVar PMID:25741868 NCBI chr 2:15,835,064...15,855,648
Ensembl chr 2:15,834,833...15,855,819
JBrowse link
G Fat4 FAT atypical cadherin 4 ISO ClinVar Annotator: match by term: Capillary infantile hemangioma ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:121,927,266...122,056,700
Ensembl chr 2:121,927,942...122,056,707
JBrowse link
G Flt4 Fms related receptor tyrosine kinase 4 ISO ClinVar Annotator: match by term: Capillary infantile hemangioma
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
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 susceptibility ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Capillary infantile hemangioma
CTD
ClinVar
OMIM
PMID:11807987 PMID:18931684 PMID:24033266 PMID:24728327 PMID:25741868 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: Capillary infantile hemangioma ClinVar PMID:28492532 NCBI chr 7:109,343,718...109,424,457
Ensembl chr 7:109,343,706...109,424,457
JBrowse link
G Rasa1 RAS p21 protein activator 1 ISO ClinVar Annotator: match by term: Capillary infantile hemangioma ClinVar PMID:25741868 NCBI chr 2:15,857,704...15,940,757
Ensembl chr 2:15,857,980...15,940,854
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
G Vegfa vascular endothelial growth factor A disease_progression ISO RGD PMID:26957058 RGD:155663370 NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641
JBrowse link
keratoacanthoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Notch1 notch receptor 1 ISO ClinVar Annotator: match by term: Keratoacanthoma ClinVar PMID:27283355 NCBI 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 ClinVar Annotator: match by term: Keratoacanthoma ClinVar PMID:27283355 NCBI chr 2:185,610,594...185,744,088
Ensembl chr 2:185,610,589...185,744,088
JBrowse link
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha ISO ClinVar Annotator: match by term: Keratoacanthoma ClinVar PMID:22949682 PMID:23246288 PMID:25741868 PMID:26619011 PMID:27283355 More... NCBI chr 2:115,175,275...115,249,034
Ensembl chr 2:115,174,984...115,249,032
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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Congenital giant melanocytic nevus | ClinVar Annotator: match by term: Large congenital melanocytic nevus
OMIM
CTD
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: Congenital giant melanocytic nevus | ClinVar Annotator: match by term: Large congenital 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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Congenital giant melanocytic nevus | ClinVar Annotator: match by term: Large congenital melanocytic nevus
OMIM
CTD
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: Multiple cutaneous leiomyomas ClinVar PMID:2314594 PMID:9300800 PMID:9635293 PMID:11865300 PMID:12761039 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...18,737,497
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...37,318,519
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
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:4063166 PMID:7705822 PMID:8198129 PMID:8571956 PMID:8751876 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
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:6096739 PMID:7585065 PMID:7713503 PMID:8566964 PMID:8592341 More... NCBI chr 6:6,813,793...6,872,960
Ensembl chr 6:6,813,795...6,872,938
JBrowse link
Multiple Basal Cell Carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccnh cyclin H ISO ClinVar Annotator: match by term: Basal cell carcinoma, multiple ClinVar PMID:24038909 PMID:25741868 PMID:28492532 NCBI chr 2:15,835,064...15,855,648
Ensembl chr 2:15,834,833...15,855,819
JBrowse link
G Ptch1 patched 1 ISO ClinVar Annotator: match by term: Basal cell carcinoma, multiple ClinVar PMID:24728327 PMID:25741868 PMID:28492532 NCBI chr17:1,542,705...1,607,730
Ensembl chr17:1,542,877...1,607,333
JBrowse link
G Rasa1 RAS p21 protein activator 1 ISO ClinVar Annotator: match by term: Basal cell carcinoma, multiple ClinVar PMID:22200646 PMID:23801933 PMID:24038909 PMID:25741868 PMID:28492532 NCBI chr 2:15,857,704...15,940,757
Ensembl chr 2:15,857,980...15,940,854
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
CTD Direct Evidence: marker/mechanism
ClinVar
OMIM
CTD
PMID:17377159 PMID:23349227 PMID:24033266 PMID:25050600 PMID:25741868 More... NCBI chr10:55,778,560...55,833,639
Ensembl chr10:55,778,560...55,825,180
JBrowse link
myoepithelioma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ampd3 adenosine monophosphate deaminase 3 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 1:164,884,823...164,929,899
Ensembl chr 1:164,885,320...164,929,887
JBrowse link
G Arhgef2 Rho/Rac guanine nucleotide exchange factor 2 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 2:174,061,126...174,118,355
Ensembl chr 2:174,062,976...174,118,355
JBrowse link
G Arhgef40 Rho guanine nucleotide exchange factor 40 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr15:24,672,645...24,696,510
Ensembl chr15:24,672,763...24,696,510
JBrowse link
G Arih2 ariadne RBR E3 ubiquitin protein ligase 2 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 8:109,296,738...109,355,909
Ensembl chr 8:109,296,738...109,355,852
JBrowse link
G Asmtl acetylserotonin O-methyltransferase-like ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr12:16,315,335...16,318,083
Ensembl chr12:16,315,414...16,318,080
JBrowse link
G Braf B-Raf proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar PMID:15016963 PMID:15753399 PMID:19404918 PMID:21750866 PMID:24033266 More... NCBI chr 4:68,375,484...68,510,652
Ensembl chr 4:68,384,649...68,510,463
JBrowse link
G Ccdc28a coiled-coil domain containing 28A ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 1:12,857,668...12,872,944
Ensembl chr 1:12,857,666...12,873,003
JBrowse link
G Cdca2 cell division cycle associated 2 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr15:41,895,946...41,942,226
Ensembl chr15:41,895,901...41,941,611
JBrowse link
G Cdcp1 CUB domain containing protein 1 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 8:122,828,685...122,865,345
Ensembl chr 8:122,828,685...122,865,388
JBrowse link
G Celf4 CUGBP, Elav-like family member 4 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr18:16,786,578...17,065,045
Ensembl chr18:16,786,867...17,064,786
JBrowse link
G Clic6 chloride intracellular channel 6 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr11:31,737,813...31,780,360
Ensembl chr11:31,737,813...31,780,061
JBrowse link
G Clspn claspin ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 5:138,850,119...138,885,037
Ensembl chr 5:138,850,128...138,885,034
JBrowse link
G Col4a2 collagen type IV alpha 2 chain ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr16:78,047,591...78,183,360
Ensembl chr16:78,047,602...78,183,839
JBrowse link
G Coro2a coronin 2A ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 5:60,825,630...60,881,917
Ensembl chr 5:60,828,247...60,859,035
JBrowse link
G Dapk1 death associated protein kinase 1 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr17:3,930,223...4,090,991
Ensembl chr17:3,930,213...4,090,991
JBrowse link
G Dchs1 dachsous cadherin-related 1 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 1:160,104,931...160,138,958
Ensembl chr 1:160,104,931...160,124,808
JBrowse link
G Dyrk1b dual specificity tyrosine phosphorylation regulated kinase 1B ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 1:83,479,168...83,497,011
Ensembl chr 1:83,479,147...83,487,169
JBrowse link
G Ehbp1 EH domain binding protein 1 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr14:96,093,327...96,380,502
Ensembl chr14:96,093,327...96,345,332
JBrowse link
G Elovl5 ELOVL fatty acid elongase 5 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 8:78,790,846...78,857,307
Ensembl chr 8:78,790,846...78,857,284
JBrowse link
G Ephb6 Eph receptor B6 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 4:70,491,973...70,507,230
Ensembl chr 4:70,491,973...70,507,230
JBrowse link
G Eppk1 epiplakin 1 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 7:107,816,919...107,842,946
Ensembl chr 7:107,817,693...107,831,159
JBrowse link
G Etv5 ETS variant transcription factor 5 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr11:78,608,618...78,666,221
Ensembl chr11:78,608,710...78,666,215
JBrowse link
G Eya4 EYA transcriptional coactivator and phosphatase 4 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 1:22,172,275...22,415,978
Ensembl chr 1:22,172,275...22,415,976
JBrowse link
G Fam168b family with sequence similarity 168, member B ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 9:37,005,569...37,038,631
Ensembl chr 9:37,006,689...37,033,723
JBrowse link
G Fras1 Fraser extracellular matrix complex subunit 1 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr14:12,791,407...13,200,862
Ensembl chr14:12,793,599...13,200,726
JBrowse link
G Ftcd formimidoyltransferase cyclodeaminase ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar PMID:28492532 NCBI chr20:12,055,203...12,068,717
Ensembl chr20:12,055,208...12,068,735
JBrowse link
G Gabrb3 gamma-aminobutyric acid type A receptor subunit beta 3 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 1:108,467,047...108,702,522
Ensembl chr 1:108,296,124...108,698,961
JBrowse link
G Grin3a glutamate ionotropic receptor NMDA type subunit 3A ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 5:64,006,847...64,206,408
Ensembl chr 5:64,009,980...64,206,085
JBrowse link
G Gtdc1 glycosyltransferase-like domain containing 1 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 3:28,766,640...29,161,668
Ensembl chr 3:28,766,645...29,162,271
JBrowse link
G Has1 hyaluronan synthase 1 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 1:58,693,411...58,705,653
Ensembl chr 1:58,693,411...58,705,397
JBrowse link
G Hivep1 HIVEP zinc finger 1 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr17:22,585,016...22,714,517
Ensembl chr17:22,585,016...22,711,956
JBrowse link
G Hrh2 histamine receptor H 2 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr17:10,366,004...10,407,791
Ensembl chr17:10,368,298...10,407,631
JBrowse link
G Ift140 intraflagellar transport 140 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr10:14,032,665...14,121,682
Ensembl chr10:14,032,648...14,120,433
JBrowse link
G Igf2r insulin-like growth factor 2 receptor ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 1:47,979,109...48,067,501
Ensembl chr 1:47,979,109...48,067,501
JBrowse link
G Igsf3 immunoglobulin superfamily, member 3 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 2:188,811,394...188,899,645
Ensembl chr 2:188,811,380...188,899,645
JBrowse link
G Ints3 integrator complex subunit 3 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 2:175,859,421...175,911,683
Ensembl chr 2:175,859,440...175,911,709
JBrowse link
G Itgal integrin subunit alpha L ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 1:181,918,183...181,955,735
Ensembl chr 1:181,918,183...181,955,732
JBrowse link
G Itgb4 integrin subunit beta 4 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr10:101,206,657...101,243,012
Ensembl chr10:101,206,665...101,243,012
JBrowse link
G Kcnj10 potassium inwardly-rectifying channel, subfamily J, member 10 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr13:84,802,026...84,835,383
Ensembl chr13:84,802,009...84,835,461
JBrowse link
G Larp4b La ribonucleoprotein 4B ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr17:61,138,663...61,217,423
Ensembl chr17:61,138,709...61,187,960
JBrowse link
G Lats1 large tumor suppressor kinase 1 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 1:2,160,411...2,193,640
Ensembl chr 1:2,160,411...2,193,640
JBrowse link
G Leng9 leukocyte receptor cluster member 9 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 1:70,039,099...70,041,559
Ensembl chr 1:70,035,791...70,044,509
JBrowse link
G Lingo3 leucine rich repeat and Ig domain containing 3 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 7:8,869,025...8,878,431
Ensembl chr 7:8,869,025...8,878,431
JBrowse link
G Lrp10 LDL receptor related protein 10 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr15:27,921,335...27,927,507
Ensembl chr15:27,920,259...27,927,505
JBrowse link
G Lrrfip1 LRR binding FLII interacting protein 1 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 9:91,592,032...91,720,250
Ensembl chr 9:91,643,197...91,720,250
JBrowse link
G Man2b1 mannosidase, alpha, class 2B, member 1 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr19:23,055,092...23,074,398
Ensembl chr19:23,055,097...23,074,389
JBrowse link
G Mfhas1 multifunctional ROCO family signaling regulator 1 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr16:56,545,462...56,633,649
Ensembl chr16:56,546,207...56,633,743
JBrowse link
G Mlxipl MLX interacting protein-like ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr12:21,541,608...21,577,120
Ensembl chr12:21,543,576...21,577,112
JBrowse link
G Mrrf mitochondrial ribosome recycling factor ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 3:19,487,124...19,543,911
Ensembl chr 3:19,487,182...19,543,908
JBrowse link
G Napsa napsin A aspartic peptidase ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 1:95,064,726...95,077,101
Ensembl chr 1:95,064,900...95,077,094
JBrowse link
G Nr3c2 nuclear receptor subfamily 3, group C, member 2 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr19:30,715,634...31,059,885
Ensembl chr19:30,715,648...31,059,885
JBrowse link
G Numa1 nuclear mitotic apparatus protein 1 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 1:156,297,907...156,372,855
Ensembl chr 1:156,326,259...156,372,855
JBrowse link
G Oxa1l OXA1L, mitochondrial inner membrane protein ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr15:27,813,688...27,821,319
Ensembl chr15:27,813,625...27,821,319
JBrowse link
G Pacsin2 protein kinase C and casein kinase substrate in neurons 2 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 7:114,505,525...114,599,087
Ensembl chr 7:114,505,152...114,598,546
JBrowse link
G Pars2 prolyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 5:121,433,993...121,439,158
Ensembl chr 5:121,434,096...121,439,154
JBrowse link
G Plagl1 PLAG1 like zinc finger 1 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 1:7,477,295...7,517,229
Ensembl chr 1:7,477,177...7,517,228
JBrowse link
G Pole DNA polymerase epsilon, catalytic subunit ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr12:46,345,420...46,393,984
Ensembl chr12:46,345,420...46,393,939
JBrowse link
G Prss1 serine protease 1 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar PMID:2539344 PMID:6023921 PMID:9322498 PMID:9557894 PMID:9633818 More... NCBI chr 4:70,364,589...70,367,792
Ensembl chr 4:70,364,586...70,367,792
JBrowse link
G Ptgfr prostaglandin F receptor ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 2:240,731,185...240,766,674
Ensembl chr 2:240,733,375...240,765,650
JBrowse link
G Ptpn21 protein tyrosine phosphatase, non-receptor type 21 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 6:117,933,066...117,998,095
Ensembl chr 6:117,933,066...117,998,095
JBrowse link
G Rabep2 rabaptin, RAB GTPase binding effector protein 2 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 1:181,010,305...181,026,651
Ensembl chr 1:181,010,305...181,026,648
JBrowse link
G Rad50 RAD50 double strand break repair protein ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar PMID:28492532 NCBI chr10:37,809,353...37,861,309
Ensembl chr10:37,808,726...37,861,396
JBrowse link
G Rbm12b RNA binding motif protein 12B ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 5:25,597,405...25,610,324
Ensembl chr 5:25,590,493...25,611,245
JBrowse link
G Rbm4 RNA binding motif protein 4 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 1:202,078,442...202,087,506
Ensembl chr 1:202,085,279...202,105,380
JBrowse link
G Recql5 RecQ like helicase 5 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr10:101,126,544...101,165,739
Ensembl chr10:101,126,547...101,165,652
JBrowse link
G Rpl36 ribosomal protein L36 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 9:1,441,986...1,447,397
Ensembl chr 6:98,809,534...98,809,897
JBrowse link
G Sacs sacsin molecular chaperone ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr15:35,285,783...35,370,335
Ensembl chr15:35,285,782...35,370,335
JBrowse link
G Scnn1g sodium channel epithelial 1 subunit gamma ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 1:176,304,942...176,338,816
Ensembl chr 1:176,304,942...176,338,816
JBrowse link
G Senp3 SUMO specific peptidase 3 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr10:54,390,698...54,399,590
Ensembl chr10:54,390,694...54,399,593
JBrowse link
G Slc27a5 solute carrier family 27 member 5 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 1:73,616,556...73,627,149
Ensembl chr 1:73,616,564...73,627,172
JBrowse link
G Slc7a2 solute carrier family 7 member 2 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr16:51,417,478...51,470,784
Ensembl chr16:51,417,493...51,470,784
JBrowse link
G Smc1b structural maintenance of chromosomes 1B ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 7:116,180,987...116,242,778
Ensembl chr 7:116,180,987...116,242,744
JBrowse link
G Specc1 sperm antigen with calponin homology and coiled-coil domains 1 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr10:46,638,947...46,912,989
Ensembl chr10:46,638,809...46,912,802
JBrowse link
G Spen spen family transcriptional repressor ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 5:153,775,287...153,848,677
Ensembl chr 5:153,776,234...153,848,811
JBrowse link
G Stil STIL, centriolar assembly protein ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 5:128,520,837...128,573,732
Ensembl chr 5:128,520,953...128,573,730
JBrowse link
G Ston1 stonin 1 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 6:5,843,186...5,892,557
Ensembl chr 6:5,843,185...5,892,449
JBrowse link
G Syt7 synaptotagmin 7 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 1:207,031,359...207,093,787
Ensembl chr 1:207,031,592...207,089,026
JBrowse link
G Tango6 transport and golgi organization 6 homolog ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr19:34,569,588...34,757,362
Ensembl chr19:34,569,635...34,754,639
JBrowse link
G Tdp1 tyrosyl-DNA phosphodiesterase 1 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 6:119,163,192...119,231,029
Ensembl chr 6:119,163,166...119,231,021
JBrowse link
G Tenm3 teneurin transmembrane protein 3 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr16:41,251,909...43,978,594
Ensembl chr16:41,252,182...43,978,594
JBrowse link
G Tex15 testis expressed 15, meiosis and synapsis associated ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr16:58,598,991...58,659,005
Ensembl chr16:58,598,989...58,658,467
JBrowse link
G Tgfbr1 transforming growth factor, beta receptor 1 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 5:61,653,773...61,710,777
Ensembl chr 5:61,653,233...61,710,777
JBrowse link
G Tln2 talin 2 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 8:67,830,920...68,252,240
Ensembl chr 8:67,834,326...68,252,219
JBrowse link
G Tmcc3 transmembrane and coiled-coil domain family 3 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 7:28,893,972...29,171,935
Ensembl chr 7:28,893,967...29,171,926
JBrowse link
G Tmem121 transmembrane protein 121 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 6:132,262,182...132,265,797
Ensembl chr 6:132,262,176...132,265,914
JBrowse link
G Tnks1bp1 tankyrase 1 binding protein 1 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 3:70,135,335...70,160,071
Ensembl chr 3:70,137,837...70,160,038
JBrowse link
G Trpm4 transient receptor potential cation channel, subfamily M, member 4 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 1:95,781,805...95,812,095
Ensembl chr 1:95,782,000...95,812,532
JBrowse link
G Trpv4 transient receptor potential cation channel, subfamily V, member 4 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr12:41,938,533...41,977,517
Ensembl chr12:41,938,560...41,977,517
JBrowse link
G Tsks testis-specific serine kinase substrate ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 1:95,414,312...95,441,670
Ensembl chr 1:95,414,157...95,441,662
JBrowse link
G Tspear thrombospondin-type laminin G domain and EAR repeats ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr20:10,771,806...10,837,419
Ensembl chr20:10,772,219...10,943,914
JBrowse link
G Vac14 VAC14 component of PIKFYVE complex ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr19:38,590,569...38,691,911
Ensembl chr19:38,590,569...38,691,909
JBrowse link
G Vipr2 vasoactive intestinal peptide receptor 2 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 6:136,996,664...137,070,599
Ensembl chr 6:137,001,511...137,070,597
JBrowse link
G Ylpm1 YLP motif containing 1 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 6:104,642,615...104,718,508
Ensembl chr 6:104,642,615...104,718,508
JBrowse link
G Zfp668 zinc finger protein 668 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 1:182,474,633...182,484,957
Ensembl chr 1:182,474,633...182,492,878
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
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:17924555 PMID:22382802 PMID:28492532 NCBI chr17:1,811,281...2,127,316
Ensembl chr17:1,811,980...2,127,331
JBrowse link
G Arl3 ADP ribosylation factor like GTPase 3 ISO ClinVar Annotator: match by term: Gorlin syndrome ClinVar PMID:12068298 PMID:22508808 PMID:25403219 PMID:28492532 PMID:31639285 NCBI chr 1:245,400,659...245,446,673
Ensembl chr 1:245,400,550...245,446,820
JBrowse link
G Cyp17a1 cytochrome P450, family 17, subfamily a, polypeptide 1 ISO ClinVar Annotator: match by term: Gorlin syndrome ClinVar PMID:12068298 PMID:22508808 PMID:25403219 PMID:28492532 PMID:31639285 NCBI chr 1:245,535,462...245,543,148
Ensembl chr 1:245,535,462...245,541,573
JBrowse link
G Fancc FA complementation group C ISO ClinVar Annotator: match by term: Gorlin syndrome ClinVar PMID:17703323 PMID:17924555 PMID:22382802 PMID:28492532 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 chr13:29,946,882...30,163,589
Ensembl chr13:29,946,809...30,163,574
JBrowse link
G Ptch1 patched 1 ISO
ISS
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Basal cell nevus syndrome | ClinVar Annotator: match by term: Fifth Phacomatosis | ClinVar Annotator: match by term: Gorlin syndrome | ClinVar Annotator: match by term: Gorlin-Goltz Syndrome
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
ClinVar
MouseDO
RGD
PMID:1347096 PMID:1850296 PMID:8302318 PMID:8658145 PMID:8681379 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: Basal cell nevus syndrome | ClinVar Annotator: match by term: Fifth Phacomatosis | ClinVar Annotator: match by term: Gorlin syndrome ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:18285427 PMID:23951062 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 Sfxn2 sideroflexin 2 ISO ClinVar Annotator: match by term: Gorlin syndrome ClinVar PMID:12068298 PMID:22508808 PMID:25403219 PMID:28492532 PMID:31639285 NCBI chr 1:245,447,014...245,459,312
Ensembl chr 1:245,447,015...245,468,411
Ensembl chr 1:245,447,015...245,468,411
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 4:58,343,626...58,373,823
Ensembl chr 4:58,343,529...58,373,829
JBrowse link
G Sufu SUFU negative regulator of hedgehog signaling ISS
ISO
OMIM:109400
ClinVar Annotator: match by term: Fifth Phacomatosis | ClinVar Annotator: match by term: Gorlin syndrome
MouseDO
ClinVar
PMID:9536098 PMID:12068298 PMID:16199547 PMID:17102621 PMID:17576681 More... NCBI chr 1:245,257,725...245,355,576
Ensembl chr 1:245,257,768...245,355,577
JBrowse link
G Trim8 tripartite motif-containing 8 ISO ClinVar Annotator: match by term: Gorlin syndrome ClinVar PMID:12068298 PMID:22508808 PMID:25403219 PMID:28492532 PMID:31639285 NCBI chr 1:245,369,632...245,384,513
Ensembl chr 1:245,369,632...245,384,513
JBrowse link
G Wbp1l WW domain binding protein 1-like ISO ClinVar Annotator: match by term: Gorlin syndrome ClinVar PMID:12068298 PMID:22508808 PMID:25403219 PMID:28492532 PMID:31639285 NCBI chr 1:245,472,292...245,528,627
Ensembl chr 1:245,472,296...245,528,627
JBrowse link
nevoid basal cell carcinoma syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ptch1 patched 1 ISO ClinVar Annotator: match by term: BASAL CELL NEVUS SYNDROME 1 OMIM
ClinVar
PMID:10564585 PMID:11457640 PMID:12204003 PMID:16199547 PMID:16301862 More... 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: BASAL CELL NEVUS SYNDROME 1 ClinVar 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 Sufu SUFU negative regulator of hedgehog signaling ISO ClinVar Annotator: match by term: BASAL CELL NEVUS SYNDROME 1 ClinVar PMID:12068298 PMID:19533801 PMID:21188540 PMID:25741868 PMID:28492532 NCBI chr 1:245,257,725...245,355,576
Ensembl chr 1:245,257,768...245,355,577
JBrowse link
nevoid basal cell carcinoma syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sufu SUFU negative regulator of hedgehog signaling ISO ClinVar Annotator: match by term: Basal cell nevus syndrome 2 | ClinVar Annotator: match by term: NEVOID BASAL CELL CARCINOMA SYNDROME 2 ClinVar
OMIM
PMID:12068298 PMID:19533801 PMID:19833601 PMID:21188540 PMID:22508808 More... NCBI chr 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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and 46,XX sex reversal
OMIM
CTD
ClinVar
PMID:16158431 PMID:17041600 PMID:25741868 PMID:28492532 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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Calcifying epithelioma of Malherbe | ClinVar Annotator: match by term: Pilomatrixoma
OMIM
CTD
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: Calcifying epithelioma of Malherbe | ClinVar Annotator: match by term: Pilomatrixoma ClinVar PMID:11801590 PMID:11818965 PMID:12606733 PMID:12917422 PMID:15236166 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 3:131,677,391...131,707,123
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 Bmpr2 bone morphogenetic protein receptor type 2 ISO ClinVar Annotator: match by term: Familial pulmonary capillary hemangiomatosis ClinVar PMID:18626305 PMID:24292273 NCBI chr 9:61,192,718...61,307,280
Ensembl chr 9:61,190,566...61,301,809
JBrowse link
G Eif2ak4 eukaryotic translation initiation factor 2 alpha kinase 4 ISO ClinVar Annotator: match by term: Familial pulmonary capillary hemangiomatosis OMIM
ClinVar
PMID:12215525 PMID:24033266 PMID:24135949 PMID:24292273 PMID:24310610 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: KERATOSIS PALMOPLANTARIS WITH CYSTIC EYELIDS, HYPODONTIA, AND HYPOTRICHOSIS | ClinVar Annotator: match by term: Schopf-Schulz-Passarge syndrome
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:16199547 PMID:17847007 PMID:19471313 PMID:19559398 PMID:20163410 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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Keratoderma with scleroatrophy of the extremities
OMIM
CTD
ClinVar
PMID:4298032 PMID:8731679 PMID:10631162 PMID:24909267 PMID:25741868 More... 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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Keratosis Seborrheica | ClinVar Annotator: match by term: Seborrheic keratosis
OMIM
CTD
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 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 hemangioma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gja4 gap junction protein, alpha 4 ISO ClinVar Annotator: match by term: Skin hemangioma ClinVar PMID:33912852 NCBI chr 5:139,633,324...139,635,857
Ensembl chr 5:139,633,287...139,635,925
JBrowse link
skin melanoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aff4 ALF transcription elongation factor 4 disease_progression ISO RGD PMID:33417923 RGD:155631266 NCBI chr10:37,498,825...37,579,751
Ensembl chr10:37,498,825...37,579,751
JBrowse link
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: Cutaneous melanoma 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 Arhgap44 Rho GTPase activating protein 44 severity ISO DNA:SNP:intron: (rs72635537) (human) RGD PMID:28510328 RGD:401901274 NCBI chr10:49,655,583...49,822,876
Ensembl chr10:49,655,584...49,824,297
JBrowse link
G B2m beta-2 microglobulin ISO ClinVar Annotator: match by term: Cutaneous melanoma ClinVar PMID:26619011 NCBI chr 3:109,095,740...109,101,764
Ensembl chr 3:109,095,729...109,101,766
JBrowse link
G Bcl2l12 Bcl2 like 12 ISO ClinVar Annotator: match by term: Cutaneous melanoma ClinVar PMID:26619011 NCBI chr 1:95,472,272...95,480,991
Ensembl chr 1:95,472,272...95,480,991
JBrowse link
G Birc2 baculoviral IAP repeat-containing 2 exacerbates ISO mRNA:increased expression:zone of skin (human) RGD PMID:31964418 RGD:153344516 NCBI chr 8:4,968,856...4,989,325
Ensembl chr 8:4,968,842...4,988,732
JBrowse link
G Braf B-Raf proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: Cutaneous melanoma | ClinVar Annotator: match by term: DYSPLASTIC NEVUS SYNDROME, HEREDITARY | ClinVar Annotator: match by term: Malignant melanoma of skin ClinVar PMID:2493360 PMID:2500657 PMID:12068308 PMID:12198537 PMID:12447372 More... NCBI 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 7:62,886,124...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: Cutaneous melanoma | ClinVar Annotator: match by term: Malignant melanoma of skin
DNA:missense mutation:exon:p.P48L (human)
ClinVar
RGD
PMID:7777060 PMID:7777061 PMID:7780957 PMID:8521414 PMID:8573142 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:25741868 PMID:26619011 NCBI chr 9:76,084,269...76,109,111
Ensembl chr 9:76,084,334...76,109,100
JBrowse link
G Crebbp CREB binding protein ISO ClinVar Annotator: match by term: Cutaneous melanoma 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: Cutaneous melanoma ClinVar PMID:26619011 NCBI chr 3:133,338,593...133,354,329
Ensembl chr 3:133,337,039...133,354,302
Ensembl chr 6:133,337,039...133,354,302
JBrowse link
G Ctcf CCCTC-binding factor ISO DNA:mutations:multiple (human) RGD PMID:27974201 RGD:151356739 NCBI chr19:33,521,726...33,571,124
Ensembl chr19:33,529,319...33,571,123
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 Ddr1 discoidin domain receptor tyrosine kinase 1 severity
treatment
ISO protein:increased expression:skin lesion (human)
human cells in mouse model; DDR1-IN-1
RGD PMID:31271515 PMID:31271515 RGD:151347864, RGD:151347864 NCBI chr20:3,042,494...3,064,442
Ensembl chr20:3,044,320...3,064,468
JBrowse link
G Dnmt3b DNA methyltransferase 3 beta disease_progression ISO RGD PMID:21081840 RGD:9589074 NCBI chr 3:142,130,588...142,169,128
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: Cutaneous melanoma 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 chr19:51,304,126...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 Fbxw7 F-box and WD repeat domain containing 7 ISO ClinVar Annotator: match by term: Cutaneous melanoma ClinVar PMID:25741868 PMID:26619011 NCBI chr 2:170,149,706...170,311,536
Ensembl chr 2:170,149,694...170,309,941
JBrowse link
G Gna11 G protein subunit alpha 11 ISO ClinVar Annotator: match by term: Malignant melanoma of skin ClinVar PMID:1328859 PMID:2549426 PMID:21083380 PMID:21444680 PMID:22733540 More... NCBI chr 7:8,163,520...8,177,863
Ensembl chr 7:8,162,750...8,179,812
JBrowse link
G Gnas GNAS complex locus ISO ClinVar Annotator: match by term: Cutaneous melanoma ClinVar PMID:1517386 PMID:1594625 PMID:1944469 PMID:2549426 PMID:3720010 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 Gpx1 glutathione peroxidase 1 ISO mRNA:increased expression:skin of body (human) RGD PMID:29535818 RGD:152023655 NCBI chr 8:109,026,905...109,028,031
Ensembl chr 8:109,026,905...109,028,024
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: Cutaneous melanoma | ClinVar Annotator: match by term: Malignant melanoma of skin ClinVar PMID:1904555 PMID:3510078 PMID:11150980 PMID:12835555 PMID:16155195 More... NCBI chr 1:196,290,127...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: Cutaneous melanoma | 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 Kit KIT proto-oncogene receptor tyrosine kinase ISO ClinVar Annotator: match by term: Malignant melanoma of skin ClinVar PMID:7530509 PMID:9438854 PMID:11073817 PMID:11276010 PMID:11526490 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: Cutaneous melanoma 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: Cutaneous melanoma 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: Cutaneous melanoma | ClinVar Annotator: match by term: Malignant melanoma of skin
ClinVar Annotator: match by term: Cutaneous melanoma | ClinVar Annotator: match by term: DYSPLASTIC NEVUS SYNDROME, HEREDITARY | ClinVar Annotator: match by term: Malignant melanoma of skin
ClinVar PMID:1904555 PMID:3510078 PMID:11150980 PMID:12835555 PMID:16155195 More... NCBI chr 1:196,299,843...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:17366577 PMID:17551924 PMID:19915144 PMID:21107320 PMID:22197931 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 Mir21 microRNA 21 disease_progression ISO RNA:increased expression:skin (human) RGD PMID:26150475 RGD:11342032 NCBI chr10:71,405,257...71,405,348
Ensembl chr10:71,405,257...71,405,348
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: Cutaneous melanoma ClinVar PMID:20190810 PMID:24631838 PMID:25741868 PMID:26018084 PMID:26619011 More... 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 Naip6 NLR family, apoptosis inhibitory protein 6 exacerbates ISO mRNA:increased expression:zone of skin (human) RGD PMID:31964418 RGD:153344516 NCBI chr 2:31,507,423...31,559,098
Ensembl chr 2:31,507,424...31,570,542
JBrowse link
G Nras NRAS proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Cutaneous melanoma 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 Pdcd4 programmed cell death 4 disease_progression ISO mRNA:decreased expression:skin (human) RGD PMID:26150475 RGD:11342032 NCBI chr 1:252,921,342...252,944,278
Ensembl chr 1:252,921,392...252,944,275
JBrowse link
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha ISO ClinVar Annotator: match by term: Cutaneous melanoma
ClinVar Annotator: match by term: Cutaneous melanoma | ClinVar Annotator: match by term: Malignant melanoma of skin
ClinVar PMID:15016963 PMID:15254419 PMID:15520168 PMID:15608678 PMID:15647370 More... NCBI 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: Cutaneous melanoma | ClinVar Annotator: match by term: Malignant melanoma of skin ClinVar PMID:19962457 PMID:25157968 PMID:25741868 PMID:26619011 NCBI chr 2:32,878,942...32,963,668
Ensembl chr 2:32,882,032...32,963,631
JBrowse link
G Pot1 protection of telomeres 1