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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;   skin neoplasm;   tumor of the skin
 related_synonym: neoplasm of skin by site
 xref: EFO:0004198;   MESH:D012878



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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 chr20:4,152,758...4,155,956 JBrowse link
G Aire autoimmune regulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:26168014 NCBI chr20:10,635,775...10,650,709 JBrowse link
G Akt1 AKT serine/threonine kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21351258 NCBI chr 6:137,534,810...137,555,131 JBrowse link
G Anxa1 annexin A1 ISO RGD PMID:22782996 RGD:7421558 NCBI chr 1:227,287,713...227,306,739 JBrowse link
G Aqp3 aquaporin 3 (Gill blood group) ISO CTD Direct Evidence: marker/mechanism CTD PMID:21401805 NCBI chr 5:61,035,165...61,040,683 JBrowse link
G Asip agouti signaling protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:18488027 NCBI chr 3:163,933,768...164,021,377 JBrowse link
G Casp8 caspase 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18563783 NCBI chr 9:67,747,109...67,806,699 JBrowse link
G Cat catalase disease_progression
treatment
ISO RGD PMID:1747937 PMID:21517247 RGD:9479155, RGD:9479189 NCBI chr 3:110,297,340...110,329,526 JBrowse link
G Cdkn1a cyclin-dependent kinase inhibitor 1A ISO RGD PMID:9264409 RGD:8662813 NCBI chr20:7,150,820...7,161,373 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 JBrowse link
G Csf3 colony stimulating factor 3 ISO CTD Direct Evidence: therapeutic CTD PMID:9774950 NCBI chr10:84,157,485...84,159,860 JBrowse link
G Csnk2a1 casein kinase 2 alpha 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18572023 NCBI chr 3:161,170,295...161,217,073 JBrowse link
G Csnk2a2 casein kinase 2 alpha 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18572023 NCBI chr19:9,562,340...9,602,136 JBrowse link
G Csnk2b casein kinase 2 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:18572023 NCBI chr20:3,704,833...3,709,999 JBrowse link
G Ctnnb1 catenin beta 1 ISO protein:increased expression:cytosol: RGD PMID:11517342 RGD:10395257 NCBI chr 8:129,517,576...129,544,661 JBrowse link
G Cyld CYLD lysine 63 deubiquitinase susceptibility ISO familial cylindromatosis, OMIM:132700;DNA:nonsense mutations RGD PMID:10835629 RGD:1601033 NCBI chr19:34,487,491...34,547,311 JBrowse link
G Ephx1 epoxide hydrolase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26295053 NCBI chr13:95,246,079...95,275,852 JBrowse link
G Erbb4 erb-b2 receptor tyrosine kinase 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19718025 NCBI chr 9:76,973,386...78,045,633 JBrowse link
G Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:17050553 NCBI chr 1:88,161,342...88,175,102 JBrowse link
G Flt1 Fms related receptor tyrosine kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19718025 NCBI chr12:12,333,050...12,504,750 JBrowse link
G Gja1 gap junction protein, alpha 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:7586191 NCBI chr20:36,302,490...36,315,010 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 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 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 JBrowse link
G Gstt1 glutathione S-transferase theta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26295053 NCBI chr20:12,856,068...12,873,020 JBrowse link
G Gypa glycophorin A ISO CTD Direct Evidence: marker/mechanism CTD PMID:17029826 NCBI chr19:27,450,304...27,465,940 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 JBrowse link
G Hgf hepatocyte growth factor susceptibility ISO RGD PMID:10919643 RGD:8548621 NCBI chr 4:19,628,902...19,700,467 JBrowse link
G Hif1a hypoxia inducible factor 1 subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:19276359 NCBI chr 6:98,357,788...98,405,068 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 1:205,712,625...205,729,406 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 7:24,169,608...24,249,446 JBrowse link
G Igf1r insulin-like growth factor 1 receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:10365914 NCBI chr 1:130,959,787...131,248,664 JBrowse link
G Il1a interleukin 1 alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:8435107 NCBI chr 3:136,979,804...136,990,236 JBrowse link
G Ivl involucrin ISO CTD Direct Evidence: marker/mechanism CTD PMID:18572023 NCBI chr 2:180,842,307...180,854,646 JBrowse link
G Krt1 keratin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18572023 NCBI chr 7:132,976,618...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 JBrowse link
G Krt17 keratin 17 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26168014 NCBI chr10:85,679,068...85,683,792 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 JBrowse link
G Map2k4 mitogen activated protein kinase kinase 4 treatment ISO RGD PMID:21378167 RGD:7495826 NCBI chr10:50,842,348...50,947,063 JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18572023 NCBI chr 3:174,103,474...174,111,434 JBrowse link
G Nfe2l2 NFE2 like bZIP transcription factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18572023 NCBI chr 3:81,001,529...81,031,165 JBrowse link
G Nme2 NME/NM23 nucleoside diphosphate kinase 2 ISO protein:increased expression:tumor (mouse) RGD PMID:14623877 RGD:5132889 NCBI chr10:79,394,999...79,400,418 JBrowse link
G Notch1 notch receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27923803 NCBI chr 3:29,676,040...29,721,613 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 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 JBrowse link
G Notch4 notch receptor 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27923803 NCBI chr20:4,160,362...4,184,466 JBrowse link
G Nppa natriuretic peptide A ISO CTD Direct Evidence: therapeutic CTD PMID:18004088 NCBI chr 5:163,712,184...163,713,493 JBrowse link
G Nppc natriuretic peptide C ISO CTD Direct Evidence: therapeutic CTD PMID:37352108 NCBI chr 9:94,767,986...94,772,186 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 JBrowse link
G Odc1 ornithine decarboxylase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:2591024 PMID:7653998 NCBI chr 6:46,058,439...46,065,148 JBrowse link
G Plcd1 phospholipase C, delta 1 ISO RGD PMID:12805213 RGD:1302551 NCBI chr 8:118,795,196...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 JBrowse link
G Ppard peroxisome proliferator-activated receptor delta ISO CTD Direct Evidence: marker/mechanism|therapeutic CTD PMID:19748995 PMID:21159610 NCBI chr20:6,300,527...6,365,707 JBrowse link
G Ptch1 patched 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9581815 NCBI chr17:1,548,449...1,613,461 JBrowse link
G Pten phosphatase and tensin homolog ISO RGD PMID:21771908 RGD:127285609 NCBI chr 1:240,043,707...240,110,330 JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17499752 PMID:19748995 PMID:21159610 NCBI chr13:64,714,063...64,722,320 JBrowse link
G Ptk2b protein tyrosine kinase 2 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:19718025 NCBI chr15:44,536,275...44,656,754 JBrowse link
G Rela RELA proto-oncogene, NF-kB subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:23069812 NCBI chr 1:212,354,336...212,364,815 JBrowse link
G Smo smoothened, frizzled class receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:9581815 NCBI chr 4:59,311,084...59,341,280 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 1:50,043,323...50,050,168 JBrowse link
G Sp1 Sp1 transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:22009531 NCBI chr 7:135,419,864...135,450,513 JBrowse link
G Stat3 signal transducer and activator of transcription 3 ISO RGD PMID:19137019 PMID:18453544 RGD:8694289, RGD:8694294 NCBI chr10:86,311,528...86,363,513 JBrowse link
G Tgfb1 transforming growth factor, beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:8148055 NCBI chr 1:90,324,312...90,340,627 JBrowse link
G Tgfbr1 transforming growth factor, beta receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21358634 NCBI chr 5:66,449,348...66,506,371 JBrowse link
G Timp3 TIMP metallopeptidase inhibitor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36499314 NCBI chr 7:19,408,539...19,459,558 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 chr10:54,798,871...54,810,300 JBrowse link
G Tyr tyrosinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:18488027 NCBI chr 1:150,527,687...150,622,857 JBrowse link
G Vegfa vascular endothelial growth factor A ISO RGD PMID:15150105 RGD:7421589 NCBI chr 9:22,452,854...22,468,194 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 JBrowse link
G Xrcc3 X-ray repair cross complementing 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11059748 PMID:16501254 NCBI chr 6:136,684,558...136,694,822 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:102,062,497...102,073,915 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 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 9:91,837,139...91,839,736 JBrowse link
G Cd8a CD8 subunit alpha ISO mRNA:decreased expression:zone of skin (human) RGD PMID:25774455 RGD:36174028 NCBI chr 4:104,924,116...104,928,353 JBrowse link
G Ctla4 cytotoxic T-lymphocyte-associated protein 4 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr 9:69,812,859...69,819,959 JBrowse link
G Foxp3 forkhead box P3 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr  X:17,580,380...17,601,181 JBrowse link
G Ifna1 interferon, alpha 1 treatment ISO RGD PMID:25774455 RGD:36174028 NCBI 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 chr13:45,024,921...45,029,586 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 chr10:29,390,300...29,405,194 JBrowse link
G Il2 interleukin 2 ISO protein:decreased expression:peripheral blood mononuclear cells (human) RGD PMID:23754510 RGD:40400714 NCBI chr 2:121,932,968...121,937,672 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 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 chr10:38,272,003...38,277,549 JBrowse link
G Il6 interleukin 6 ISO protein:decreased expression:peripheral blood mononuclear cells (human) RGD PMID:23754510 RGD:40400714 NCBI chr 4:5,889,999...5,894,575 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 JBrowse link
G Mapk8 mitogen-activated protein kinase 8 treatment ISO mRNA:increased expression:zone of skin (human) RGD PMID:25774455 RGD:36174028 NCBI chr16:8,645,171...8,728,225 JBrowse link
G Myd88 MYD88, innate immune signal transduction adaptor ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr 8:127,952,161...127,956,230 JBrowse link
G Ncr1 natural cytotoxicity triggering receptor 1 ISO mRNA,protein:decreased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr 1:78,657,409...78,665,255 JBrowse link
G Pdcd1 programmed cell death 1 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr 9:101,866,124...101,879,278 JBrowse link
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 ISO protein:increased expression:foreskin RGD PMID:18543080 RGD:39128248 NCBI chr12:41,026,079...41,085,577 JBrowse link
G Ptpn6 protein tyrosine phosphatase, non-receptor type 6 ISO protein:increased expression:foreskin RGD PMID:18543080 RGD:39128248 NCBI chr 4:159,212,320...159,237,069 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 JBrowse link
G Tgfb1 transforming growth factor, beta 1 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr 1:90,324,312...90,340,627 JBrowse link
G Tlr2 toll-like receptor 2 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr 2:171,499,189...171,504,831 JBrowse link
G Tlr3 toll-like receptor 3 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr16:53,554,916...53,572,321 JBrowse link
G Tlr4 toll-like receptor 4 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr 5:85,161,247...85,174,882 JBrowse link
G Tlr7 toll-like receptor 7 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr  X:30,644,324...30,670,796 JBrowse link
G Tlr8 toll-like receptor 8 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr  X:30,708,714...30,733,104 JBrowse link
G Tlr9 toll-like receptor 9 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr 8:115,743,407...115,747,523 JBrowse link
G Tnf tumor necrosis factor ISO protein:increased expression:peripheral blood mononuclear cells (human) RGD PMID:23754510 RGD:40400714 NCBI chr20:3,626,685...3,629,303 JBrowse link
G Tnfrsf18 TNF receptor superfamily member 18 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr 5:171,901,734...171,904,578 JBrowse link
basal cell carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abi3bp ABI family member 3 binding protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr11:43,912,187...44,128,888 JBrowse link
G Acaa2 acetyl-CoA acyltransferase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr18:68,345,136...68,373,246 JBrowse link
G Acadl acyl-CoA dehydrogenase, long chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 9:68,333,981...68,372,149 JBrowse link
G Adam23 ADAM metallopeptidase domain 23 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 9:64,862,649...65,009,718 JBrowse link
G Alcam activated leukocyte cell adhesion molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr11:61,804,932...62,005,250 JBrowse link
G Alyref Aly/REF export factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr10:105,871,424...105,875,076 JBrowse link
G Arid5b AT-rich interaction domain 5B ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr20:20,307,731...20,490,746 JBrowse link
G Arpc1b actin related protein 2/3 complex, subunit 1B ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr12:14,595,939...14,609,501 JBrowse link
G Asip agouti signaling protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:18488027 NCBI chr 3:163,933,768...164,021,377 JBrowse link
G Atf2 activating transcription factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 3:79,125,814...79,202,896 JBrowse link
G Atp5pb ATP synthase peripheral stalk-membrane subunit b ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 2:193,424,138...193,435,418 JBrowse link
G Bap1 BRCA1 associated deubiquitinase 1 ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:26719535 PMID:25080371 RGD:9586038 NCBI chr16:6,453,126...6,461,952 JBrowse link
G Basp1 brain abundant, membrane attached signal protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 2:77,546,628...77,594,297 JBrowse link
G Bnc2 basonuclin zinc finger protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 5:103,724,934...104,061,890 JBrowse link
G C1qa complement C1q A chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 5:154,417,086...154,419,933 JBrowse link
G C1qtnf1 C1q and TNF related 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr10:103,660,319...103,681,662 JBrowse link
G Cav1 caveolin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 4:46,606,538...46,639,616 JBrowse link
G Ccdc152 coiled-coil domain containing 152 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 2:52,507,987...52,532,880 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 Annotator: match by term: RASA1-related condition ClinVar PMID:8275088 PMID:9219684 PMID:15574420 PMID:18363760 PMID:18446851 More... NCBI chr 2:17,570,449...17,591,078 JBrowse link
G Chchd7 coiled-coil-helix-coiled-coil-helix domain containing 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 5:16,957,127...16,961,682 JBrowse link
G Chd3 chromodomain helicase DNA binding protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr10:54,562,437...54,588,842 JBrowse link
G Chga chromogranin A ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 6:121,696,051...121,707,399 JBrowse link
G Clptm1l CLPTM1-like ISO CTD Direct Evidence: marker/mechanism CTD PMID:19151717 NCBI chr 1:29,667,545...29,683,530 JBrowse link
G Coa3 cytochrome C oxidase assembly factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr10:86,720,454...86,721,435 JBrowse link
G Coa7 cytochrome c oxidase assembly factor 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 5:123,069,356...123,080,942 JBrowse link
G Creb5 cAMP responsive element binding protein 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 4:83,723,587...84,124,786 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 JBrowse link
G Cspg4 chondroitin sulfate proteoglycan 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 8:57,264,962...57,300,010 JBrowse link
G Ctcf CCCTC-binding factor ISO DNA:mutations:multiple (human) RGD PMID:27974201 RGD:151356739 NCBI chr19:50,431,478...50,481,013 JBrowse link
G Ctla4 cytotoxic T-lymphocyte-associated protein 4 susceptibility ISO DNA:SNP: :rs3087243(human) RGD PMID:19622768 RGD:7411686 NCBI chr 9:69,812,859...69,819,959 JBrowse link
G Dclre1a DNA cross-link repair 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 1:255,569,911...255,589,815 JBrowse link
G Dcp1b decapping mRNA 1B ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 4:152,358,267...152,395,747 JBrowse link
G Dhx15 DEAH-box helicase 15 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr14:58,787,147...58,825,083 JBrowse link
G Dio2 iodothyronine deiodinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 6:115,396,308...115,410,594 JBrowse link
G Dsc2 desmocollin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr18:11,725,466...11,757,591 JBrowse link
G Dusp10 dual specificity phosphatase 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr13:98,145,317...98,183,304 JBrowse link
G Edn1 endothelin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr17:22,660,799...22,666,687 JBrowse link
G Elk3 ETS transcription factor ELK3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 7:29,655,676...29,718,163 JBrowse link
G Erbb2 erb-b2 receptor tyrosine kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26950094 NCBI chr10:83,907,491...83,931,365 JBrowse link
G Fam234a family with sequence similarity 234, member A ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr10:15,232,267...15,263,529 JBrowse link
G Farp1 FERM, ARH/RhoGEF and pleckstrin domain protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr15:98,124,304...98,363,299 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 JBrowse link
G Fmo2 flavin containing dimethylaniline monoxygenase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr13:75,221,149...75,244,377 JBrowse link
G Fnbp1l formin binding protein 1-like ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 2:210,647,241...210,748,203 JBrowse link
G Fscn1 fascin actin-bundling protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr12:16,710,601...16,723,734 JBrowse link
G Galnt15 polypeptide N-acetylgalactosaminyltransferase 15 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr16:7,227,232...7,267,002 JBrowse link
G Gjb6 gap junction protein, beta 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr15:31,284,561...31,294,552 JBrowse link
G Gli2 GLI family zinc finger 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10700170 PMID:36428691 NCBI chr13:29,946,882...30,163,589 JBrowse link
G Gpx8 glutathione peroxidase 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 2:44,676,448...44,680,042 JBrowse link
G Grm5 glutamate metabotropic receptor 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 1:141,310,069...141,884,980 JBrowse link
G Gtf2i general transcription factor II I ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr12:28,037,344...28,112,677 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 JBrowse link
G Ift88 intraflagellar transport 88 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr15:31,573,325...31,666,068 JBrowse link
G Igf2bp1 insulin-like growth factor 2 mRNA binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr10:80,908,300...80,951,097 JBrowse link
G Igf2bp2 insulin-like growth factor 2 mRNA binding protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr11:92,378,908...92,478,893 JBrowse link
G Il6 interleukin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22108589 NCBI chr 4:5,889,999...5,894,575 JBrowse link
G Inpp4a inositol polyphosphate-4-phosphatase type I A ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 9:39,528,245...39,650,574 JBrowse link
G Irs4 insulin receptor substrate 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr  X:105,344,020...105,360,004 JBrowse link
G Irx1 iroquois homeobox 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 1:31,294,615...31,300,444 JBrowse link
G Jun Jun proto-oncogene, AP-1 transcription factor subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 5:115,009,900...115,012,993 JBrowse link
G Krt17 keratin 17 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20871598 PMID:36428691 NCBI chr10:85,679,068...85,683,792 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 JBrowse link
G Lats1 large tumor suppressor kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26950094 NCBI chr 1:3,980,801...4,014,029 JBrowse link
G Lef1 lymphoid enhancer binding factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 2:222,340,541...222,453,931 JBrowse link
G Lgr5 leucine rich repeat containing G protein coupled receptor 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 7:52,973,151...53,107,964 JBrowse link
G Litaf lipopolysaccharide-induced TNF factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr10:4,656,308...4,692,981 JBrowse link
G Lman1 lectin, mannose-binding, 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr18:59,508,996...59,530,873 JBrowse link
G Lpl lipoprotein lipase ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr16:25,596,205...25,621,928 JBrowse link
G Lrig3 leucine-rich repeats and immunoglobulin-like domains 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 7:61,816,313...61,866,275 JBrowse link
G Lrrcc1 leucine rich repeat and coiled-coil centrosomal protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 2:88,746,904...88,781,532 JBrowse link
G Ltbp1 latent transforming growth factor beta binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 6:25,781,625...26,177,346 JBrowse link
G Marcksl1 MARCKS-like 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 5:147,135,827...147,138,150 JBrowse link
G Mc1r melanocortin 1 receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539553 NCBI chr19:68,360,950...68,363,877 JBrowse link
G Mex3a mex-3 RNA binding family member A ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 2:173,990,098...173,999,567 JBrowse link
G Mgat5 alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr13:38,675,776...38,959,697 JBrowse link
G Mmp11 matrix metallopeptidase 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr20:12,730,846...12,739,629 JBrowse link
G Mpped1 metallophosphoesterase domain containing 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 7:114,932,221...115,011,797 JBrowse link
G Mycn MYCN proto-oncogene, bHLH transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:26950094 NCBI chr 6:41,446,683...41,452,584 JBrowse link
G Myh9 myosin, heavy chain 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 7:111,224,291...111,304,963 JBrowse link
G Nnmt nicotinamide N-methyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 8:48,928,663...48,947,734 JBrowse link
G Nudcd1 NudC domain containing 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 7:75,550,650...75,595,976 JBrowse link
G Nxn nucleoredoxin ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr10:61,109,322...61,247,578 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 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 4:148,030,237...148,037,599 JBrowse link
G Oscp1 organic solute carrier partner 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 5:138,334,552...138,365,220 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 JBrowse link
G Palm paralemmin ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 7:9,886,634...9,912,389 JBrowse link
G Peli2 pellino E3 ubiquitin protein ligase family member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr15:21,393,262...21,537,737 JBrowse link
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:26950094 NCBI chr 2:117,103,643...117,177,411 JBrowse link
G Plag1 PLAG1 zinc finger ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 5:16,902,057...16,956,727 JBrowse link
G Pnma1 PNMA family member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 6:103,782,244...103,784,029 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 JBrowse link
G Procr protein C receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 3:144,254,596...144,258,863 JBrowse link
G Ptch1 patched 1 disease_progression ISO
ISS
mRNA:increased expression:skin of body
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
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
MouseDO
OMIM
RGD
PMID:8782823 PMID:8840969 PMID:9581815 PMID:9620294 PMID:11231326 More... RGD:12801453 NCBI chr17:1,548,449...1,613,461 JBrowse link
G Ptch2 patched 2 ISO 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 | ClinVar Annotator: match by term: PTCH2-related condition
OMIM
CTD
ClinVar
PMID:9536098 PMID:9931336 PMID:17576681 PMID:25741868 PMID:28492532 More... NCBI chr 5:130,571,956...130,592,506 JBrowse link
G Ptpn14 protein tyrosine phosphatase, non-receptor type 14 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26950094 NCBI chr13:103,799,473...103,951,708 JBrowse link
G Pycr2 pyrroline-5-carboxylate reductase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr13:92,626,462...92,630,256 JBrowse link
G Rab28 RAB28, member RAS oncogene family ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr14:69,245,846...69,322,968 JBrowse link
G Rac3 Rac family small GTPase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr10:106,002,808...106,005,243 JBrowse link
G Rasa1 RAS p21 protein activator 1 ISO DNA:missense mutations:cds: (human)
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 Annotator: match by term: RASA1-related condition
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
RGD
PMID:8275088 PMID:9219684 PMID:15574420 PMID:18363760 PMID:18446851 More... RGD:737716 NCBI chr 2:15,857,704...15,940,757 JBrowse link
G Rb1 RB transcriptional corepressor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26950094 NCBI chr15:54,780,858...54,911,989 JBrowse link
G Rbp1 retinol binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 8:99,025,218...99,046,740 JBrowse link
G Rgcc regulator of cell cycle ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr15:54,662,483...54,675,320 JBrowse link
G Rock1 Rho-associated coiled-coil containing protein kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr18:1,387,360...1,509,218 JBrowse link
G Rpe65 retinoid isomerohydrolase RPE65 ISO mRNA:increased expression:skin (human) RGD PMID:16181461 RGD:9495923 NCBI chr 2:251,425,228...251,457,209 JBrowse link
G Runx1t1 RUNX1 partner transcriptional co-repressor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 5:27,187,674...27,338,070 JBrowse link
G Scamp5 secretory carrier membrane protein 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 8:57,845,831...57,884,516 JBrowse link
G Setbp1 SET binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr18:74,465,616...74,827,455 JBrowse link
G Sh3bp4 SH3-domain binding protein 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 9:89,660,156...89,739,163 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 JBrowse link
G Shox2 SHOX homeobox 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 2:153,524,324...153,537,571 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 JBrowse link
G Slc7a2 solute carrier family 7 member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr16:51,417,478...51,470,784 JBrowse link
G Slco2a1 solute carrier organic anion transporter family, member 2a1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 8:103,588,916...103,672,546 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: BCC1 | ClinVar Annotator: match by term: Basal cell carcinoma, somatic
mRNA:increased expression:skin of body
CTD Direct Evidence: marker/mechanism
ClinVar
OMIM
CTD
RGD
PMID:9422511 PMID:9581815 PMID:25741868 PMID:26950094 PMID:28492532 More... RGD:704355, RGD:12801453 NCBI chr 4:59,311,084...59,341,280 JBrowse link
G Snora75 small nucleolar RNA, H/ACA box 75 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 9:87,000,248...87,000,384 JBrowse link
G Sobp sine oculis binding protein homolog ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr20:48,064,445...48,243,607 JBrowse link
G Sox18 SRY-box transcription factor 18 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 3:168,785,488...168,787,290 JBrowse link
G Sox4 SRY-box transcription factor 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr17:35,876,298...35,881,004 JBrowse link
G Spon2 spondin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr14:77,505,695...77,518,001 JBrowse link
G Srgap1 SLIT-ROBO Rho GTPase activating protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 7:59,215,007...59,479,600 JBrowse link
G Ssr3 signal sequence receptor subunit 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 2:149,605,005...149,625,069 JBrowse link
G Stmn1 stathmin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 5:151,964,308...151,970,843 JBrowse link
G Sufu SUFU negative regulator of hedgehog signaling ISO CTD Direct Evidence: marker/mechanism CTD PMID:26950094 NCBI chr 1:255,199,108...255,296,983 JBrowse link
G Synj1 synaptojanin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr11:30,192,629...30,269,447 JBrowse link
G Tbx1 T-box transcription factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr11:82,409,275...82,419,058 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 JBrowse link
G Tgfb2 transforming growth factor, beta 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr13:98,160,075...98,261,771 JBrowse link
G Tgs1 trimethylguanosine synthase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 5:16,524,864...16,558,399 JBrowse link
G Tm4sf1 transmembrane 4 L six family member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 2:141,456,950...141,466,146 JBrowse link
G Tmco3 transmembrane and coiled-coil domains 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr16:76,217,146...76,254,309 JBrowse link
G Tmem104 transmembrane protein 104 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr10:100,427,244...100,485,890 JBrowse link
G Tmem170a transmembrane protein 170A ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr19:56,743,221...56,756,085 JBrowse link
G Tmem176b transmembrane protein 176B ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 4:77,766,928...77,774,740 JBrowse link
G Tmem19 transmembrane protein 19 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 7:50,958,884...50,985,601 JBrowse link
G Tmem217 transmembrane protein 217 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr20:7,584,177...7,619,023 JBrowse link
G Tp53 tumor protein p53 ISO DNA:mutations:cds:
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 chr10:54,798,871...54,810,300 JBrowse link
G Tril TLR4 interactor with leucine-rich repeats ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 4:82,922,327...82,927,172 JBrowse link
G Tuba1a tubulin, alpha 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 7:131,992,151...131,996,850 JBrowse link
G Tyr tyrosinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:18488027 NCBI chr 1:150,527,687...150,622,857 JBrowse link
G Ubac2 UBA domain containing 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr15:98,960,139...99,107,795 JBrowse link
G Ust uronyl-2-sulfotransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 1:4,487,316...4,782,579 JBrowse link
G Vash2 vasohibin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr13:102,529,718...102,561,204 JBrowse link
G Vcan versican ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 2:20,761,718...20,860,637 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 7:130,864,764...130,916,757 JBrowse link
G Vps37d VPS37D subunit of ESCRT-I ISO CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr12:21,609,210...21,614,669 JBrowse link
G Whr1 winged helix repair factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26950094 NCBI chr20:4,000,216...4,009,743 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 JBrowse link
G Xrcc3 X-ray repair cross complementing 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16501254 NCBI chr 6:136,684,558...136,694,822 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 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 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 chr17:1,548,449...1,613,461 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 chr12:16,776,664...16,779,634 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 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 5:114,722,815...114,849,535 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 8:13,253,697...13,273,672 JBrowse link
G Birc3 baculoviral IAP repeat-containing 3 ISO mRNA:increased expression:perianal skin (human) RGD PMID:20346172 RGD:152998971 NCBI chr 8:13,285,702...13,313,329 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 chr19:34,487,491...34,547,311 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 chr13:91,475,839...91,758,060 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 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 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 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 2:117,103,643...117,177,411 JBrowse link
dermatopathia pigmentosa reticularis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Krt14 keratin 14 ISO ClinVar Annotator: match by term: Dermatopathia pigmentosa reticularis
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:1303619 PMID:1717157 PMID:10730767 PMID:10733662 PMID:11710919 More... NCBI chr10:85,137,786...85,142,054 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 JBrowse link
G Mre11 MRE11 homolog, double strand break repair nuclease ISO ClinVar Annotator: match by term: Eccrine porocarcinoma ClinVar NCBI chr 8:19,900,211...19,961,906 JBrowse link
G Tbx3 T-box transcription factor 3 ISO ClinVar Annotator: match by term: Eccrine porocarcinoma ClinVar NCBI chr12:42,540,378...42,555,490 JBrowse link
epidermal appendage tumor term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tmem207 transmembrane protein 207 ISS MouseDO NCBI chr11:74,251,042...74,270,180 JBrowse link
epidermodysplasia verruciformis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tmc6 transmembrane channel like 6 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Epidermodysplasia verruciformis
CTD
ClinVar
PMID:9536098 PMID:12426567 PMID:15042430 PMID:16199547 PMID:17139267 More... NCBI chr10:102,982,059...102,999,509 JBrowse link
G Tmc8 transmembrane channel-like 8 ISO ClinVar Annotator: match by term: Epidermodysplasia verruciformis ClinVar PMID:9536098 PMID:10084299 PMID:12426567 PMID:16045695 PMID:16199547 More... NCBI chr10:103,000,038...103,010,601 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 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 susceptibility ISO ClinVar Annotator: match by term: Epidermodysplasia verruciformis, susceptibility to, 1 | ClinVar Annotator: match by term: TMC6-related condition ClinVar
OMIM
PMID:9536098 PMID:12426567 PMID:15042430 PMID:16199547 PMID:17139267 More... NCBI chr10:102,982,059...102,999,509 JBrowse link
G Tmc8 transmembrane channel-like 8 ISO ClinVar Annotator: match by term: Epidermodysplasia verruciformis, susceptibility to, 1 ClinVar PMID:9536098 PMID:12426567 PMID:17576681 PMID:22158547 PMID:25741868 More... NCBI chr10:103,000,038...103,010,601 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 Annotator: match by term: TMC8-related condition ClinVar PMID:9536098 PMID:17576681 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr10:102,982,059...102,999,509 JBrowse link
G Tmc8 transmembrane channel-like 8 susceptibility ISO ClinVar Annotator: match by term: Epidermodysplasia verruciformis, susceptibility to, 2 | ClinVar Annotator: match by term: TMC8-related condition OMIM
ClinVar
PMID:9536098 PMID:10084299 PMID:12426567 PMID:16199547 PMID:17576681 More... NCBI chr10:103,000,038...103,010,601 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 susceptibility ISO ClinVar Annotator: match by term: CIB1-related condition | ClinVar Annotator: match by term: Epidermodysplasia verruciformis, susceptibility to, 3 OMIM
ClinVar
PMID:228581 PMID:19702156 PMID:20982046 PMID:21196704 PMID:25741868 More... NCBI chr 1:143,587,591...143,593,153 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 ISO ClinVar Annotator: match by term: Epidermodysplasia verruciformis, susceptibility to, 4 | ClinVar Annotator: match by term: RHOH-related condition OMIM
ClinVar
PMID:22850876 PMID:25741868 PMID:28492532 PMID:38775840 NCBI chr14:42,694,860...42,725,690 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 ISO ClinVar Annotator: match by term: Epidermodysplasia verruciformis, susceptibility to, 5 | ClinVar Annotator: match by term: IL7-related condition OMIM
ClinVar
PMID:25741868 PMID:25981006 PMID:28492532 PMID:31900472 PMID:39352394 NCBI chr 2:96,142,523...96,186,282 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 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 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 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 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 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 JBrowse link
G Bap1 BRCA1 associated deubiquitinase 1 ISO ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:21874000 PMID:23684012 PMID:25741868 PMID:28492532 NCBI chr16:6,453,126...6,461,952 JBrowse link
G Braf B-Raf proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 1
ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 1 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10
ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 1 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10
ClinVar
OMIM
PMID:2500657 PMID:16439621 PMID:16474404 PMID:17366577 PMID:17551924 More... NCBI chr 4:69,329,772...69,476,931 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 AND RENAL CELL CARCINOMA, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 1 | 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 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, 3
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
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: 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: 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: 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
PMID:5377176 PMID:7652577 PMID:8528263 PMID:8968104 PMID:9228064 More... NCBI chr 7:64,771,453...64,774,891 JBrowse link
G Cdkn2a cyclin-dependent kinase inhibitor 2A ISO ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: MELANOMA AND RENAL CELL CARCINOMA, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 1 | 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 6 | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Hereditary cutaneous melanoma | 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, 2 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3
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, 1 | 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: Cutaneous malignant melanoma 9 | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Hereditary cutaneous melanoma | ClinVar Annotator: match by term: MELANOMA AND RENAL CELL CARCINOMA, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 1 | 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, 9
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: Familial melanoma | ClinVar Annotator: match by term: Hereditary cutaneous melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 1 | 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: 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
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
PMID:539244 PMID:649266 PMID:865368 PMID:1038976 PMID:2319082 More... NCBI chr 5:109,100,763...109,114,448 JBrowse link
G Cdkn2b cyclin-dependent kinase inhibitor 2B ISO ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:9622062 PMID:28492532 NCBI chr 5:109,123,308...109,134,906 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 7:64,756,626...64,761,570 JBrowse link
G Dctn2 dynactin subunit 2 ISO ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:28492532 NCBI chr 7:64,977,338...64,992,875 JBrowse link
G Ddit3 DNA-damage inducible transcript 3 ISO ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:28492532 NCBI chr 7:65,001,695...65,006,517 JBrowse link
G Dnah1 dynein, axonemal, heavy chain 1 ISO ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:21874000 PMID:23684012 PMID:25741868 PMID:28492532 NCBI chr16:6,455,514...6,517,103 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 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 JBrowse link
G Fanca FA complementation group A ISO ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 ClinVar PMID:28492532 NCBI chr19:68,210,562...68,271,080 JBrowse link
G Gli1 GLI family zinc finger 1 ISO ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:28492532 NCBI chr 7:65,042,237...65,054,888 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 JBrowse link
G Inhbe inhibin subunit beta E ISO ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:28492532 NCBI chr 7:65,061,531...65,064,519 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 JBrowse link
G Klc1 kinesin light chain 1 ISO ClinVar Annotator: match by term: Cutaneous malignant melanoma 6 ClinVar PMID:11059748 PMID:28492532 NCBI chr 6:130,823,416...130,866,729 JBrowse link
G Lrp1 LDL receptor related protein 1 ISO ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:28492532 NCBI chr 7:65,265,639...65,346,196 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 JBrowse link
G Mars1 methionyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:28492532 NCBI chr 7:65,006,456...65,023,880 JBrowse link
G Mbd6 methyl-CpG binding domain protein 6 ISO ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:28492532 NCBI chr 7:64,992,877...65,001,274 JBrowse link
G Mc1r melanocortin 1 receptor ISO 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: Melanoma, cutaneous malignant, susceptibility to, 5 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 8
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
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
OMIM
ClinVar
PMID:7581459 PMID:8605020 PMID:8894704 PMID:8944016 PMID:8990005 More... NCBI chr19:68,360,950...68,363,877 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 JBrowse link
G Mitf melanocyte inducing transcription factor ISO ClinVar Annotator: match by term: MELANOMA AND RENAL CELL CARCINOMA, SUSCEPTIBILITY TO
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
ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: MELANOMA AND RENAL CELL CARCINOMA, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 8
ClinVar
OMIM
PMID:2440678 PMID:8589691 PMID:8659547 PMID:9536098 PMID:10587587 More... NCBI chr 4:131,965,676...132,177,790 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 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 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 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 7:64,905,322...64,920,380 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: Cutaneous malignant melanoma 9 | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 1 | 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: Hereditary cutaneous melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 1 | 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: Melanoma, cutaneous malignant, susceptibility to, 9
ClinVar Annotator: match by term: Cutaneous malignant melanoma 9 | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: MELANOMA AND RENAL CELL CARCINOMA, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 1 | 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: Cutaneous malignant melanoma 5 | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 1 | 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, 8
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, 1 | 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: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 1 | 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, 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, 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, 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
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, 5
ClinVar
OMIM
PMID:9536098 PMID:16199547 PMID:17576681 PMID:19461895 PMID:19763152 More... NCBI chr 4:54,205,330...54,263,137 JBrowse link
G Pten phosphatase and tensin homolog ISO ClinVar Annotator: match by term: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 1 ClinVar PMID:24033266 PMID:24055113 PMID:25741868 PMID:25980754 PMID:28492532 More... NCBI chr 1:240,043,707...240,110,330 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 JBrowse link
G Shmt2 serine hydroxymethyltransferase 2 ISO ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 ClinVar PMID:28492532 NCBI chr 7:63,358,961...63,364,293 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 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 JBrowse link
G Stk11 serine/threonine kinase 11 ISO ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 1 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10
ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 1 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3
ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 1 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3
ClinVar
OMIM
PMID:9536098 PMID:9887330 PMID:10201537 PMID:10208439 PMID:10676634 More... NCBI chr 7:10,225,204...10,241,965 JBrowse link
G Tcf25 TCF25 ribosome quality control complex subunit ISO ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 ClinVar PMID:28492532 NCBI chr19:51,415,341...51,449,725 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, 1 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 9
ClinVar Annotator: match by term: Cutaneous malignant melanoma 9 | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 9 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 1 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 9
OMIM
ClinVar
PMID:15814878 PMID:19561322 PMID:20301779 PMID:20871597 PMID:21436073 More... NCBI chr 1:29,637,213...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 chr10:54,798,871...54,810,300 JBrowse link
G Tsfm Ts translation elongation factor, mitochondrial ISO ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:28492532 NCBI chr 7:64,714,330...64,750,106 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: 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 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 1:150,527,687...150,622,857 JBrowse link
G Xrcc3 X-ray repair cross complementing 3 ISO ClinVar Annotator: match by term: Cutaneous malignant melanoma 6 ClinVar
OMIM
PMID:11059748 PMID:28492532 NCBI chr 6:136,684,558...136,694,822 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 JBrowse link
G Slx4 SLX4 structure-specific endonuclease subunit ISS OMIM:227850 MouseDO NCBI chr10:11,526,623...11,549,313 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 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:2511639 PMID:2647812 PMID:5173258 PMID:8499949 PMID:16596670 More... NCBI chr 5:66,449,348...66,506,371 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 chr13:42,630,383...42,634,288 JBrowse link
G Dll4 delta like canonical Notch ligand 4 ISO mRNA,protein:increased expression:temporal lobe : RGD PMID:27388534 RGD:155641257 NCBI chr 3:126,770,945...126,780,769 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 JBrowse link
G Hif1a hypoxia inducible factor 1 subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:15341671 NCBI chr 6:98,357,788...98,405,068 JBrowse link
G Ndrg1 N-myc downstream regulated 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15341671 NCBI chr 7:100,573,526...100,614,902 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 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 chr13:90,141,880...90,152,097 JBrowse link
G Chrm3 cholinergic receptor, muscarinic 3 ISO ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer ClinVar PMID:29909963 NCBI chr17:64,696,549...65,158,622 JBrowse link
G Exo1 exonuclease 1 ISO ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer ClinVar PMID:29909963 NCBI chr13:90,341,947...90,366,861 JBrowse link
G Fh fumarate hydratase ISO DNA:mutations:multiple (human)
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: FH-related condition | 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 chr13:90,056,565...90,082,450 JBrowse link
G Fmn2 formin 2 ISO ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer ClinVar PMID:29909963 NCBI chr13:86,454,256...86,771,437 JBrowse link
G Grem2 gremlin 2, DAN family BMP antagonist ISO ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer ClinVar PMID:29909963 NCBI chr13:86,778,543...86,871,509 JBrowse link
G Kmo kynurenine 3-monooxygenase ISO ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer ClinVar PMID:29909963 NCBI chr13:90,089,340...90,121,108 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 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 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 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 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 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 JBrowse link
IMMUNODEFICIENCY 123 WITH HPV-RELATED VERRUCOSIS term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cd28 Cd28 molecule ISO ClinVar Annotator: match by term: Immunodeficiency 123 with HPV-related verrucosis OMIM
ClinVar
NCBI chr 9:69,660,316...69,689,192 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 JBrowse link
G Ccnh cyclin H ISO ClinVar Annotator: match by term: Capillary infantile hemangioma ClinVar PMID:25741868 NCBI chr 2:17,570,449...17,591,078 JBrowse link
G Fat4 FAT atypical cadherin 4 ISO ClinVar Annotator: match by term: Capillary infantile hemangioma | ClinVar Annotator: match by term: HEMANGIOMA, HEREDITARY CAPILLARY ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:121,927,266...122,056,700 JBrowse link
G Flt4 Fms related receptor tyrosine kinase 4 ISO ClinVar Annotator: match by term: Capillary infantile hemangioma | ClinVar Annotator: match by term: HEMANGIOMA, HEREDITARY CAPILLARY
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:11807987 PMID:25741868 PMID:28492532 NCBI chr10:34,414,834...34,455,878 JBrowse link
G Kdr kinase insert domain receptor ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Capillary infantile hemangioma | ClinVar Annotator: match by term: KDR-related condition
CTD
ClinVar
OMIM
PMID:11807987 PMID:18931684 PMID:24033266 PMID:24728327 PMID:25741868 More... NCBI chr14:32,572,031...32,615,204 JBrowse link
G Myh9 myosin, heavy chain 9 ISO ClinVar Annotator: match by term: Capillary infantile hemangioma ClinVar PMID:28492532 NCBI chr 7:111,224,291...111,304,963 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 JBrowse link
G Slc2a1 solute carrier family 2 member 1 ISO RGD PMID:17554865 RGD:12879502 NCBI chr 5:138,002,522...138,030,742 JBrowse link
G Vegfa vascular endothelial growth factor A disease_progression ISO RGD PMID:26957058 RGD:155663370 NCBI chr 9:22,452,854...22,468,194 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 3:29,676,040...29,721,613 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 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:27283355 PMID:28151489 More... NCBI chr 2:117,103,643...117,177,411 JBrowse link
large congenital melanocytic nevus term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hras HRas proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Congenital giant melanocytic nevus | ClinVar Annotator: match by term: Large congenital melanocytic nevus
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:11150980 PMID:16155195 PMID:16170316 PMID:16329078 PMID:16372351 More... NCBI chr 1:205,712,625...205,729,406 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 Annotator: match by term: MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC ClinVar PMID:11150980 PMID:16155195 PMID:16170316 PMID:16329078 PMID:16372351 More... NCBI chr 1:196,299,843...196,315,170 JBrowse link
G Nras NRAS proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Congenital giant melanocytic nevus | ClinVar Annotator: match by term: Large congenital melanocytic nevus
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:1654209 PMID:3102434 PMID:6587382 PMID:10821536 PMID:12727991 More... NCBI chr 2:193,271,399...193,282,023 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 chr13:90,056,565...90,082,450 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 chr19:34,882,238...34,910,944 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 chr10:54,880,562...54,882,441 JBrowse link
G Fgfr3 fibroblast growth factor receptor 3 ISO mRNA:decreased expression:skin (human) RGD PMID:28359267 RGD:38500206 NCBI chr14:81,211,800...81,227,215 JBrowse link
G Myc MYC proto-oncogene, bHLH transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:25277525 NCBI chr 7:95,483,105...95,488,031 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 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 chr15:16,365,401...17,872,901 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:2414824 PMID:4063166 PMID:7705822 PMID:8198129 PMID:8566964 More... NCBI chr 8:120,074,871...120,112,109 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 6:12,567,368...12,626,534 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 2:17,570,449...17,591,078 JBrowse link
G Ptch1 patched 1 ISO ClinVar Annotator: match by term: Basal cell carcinoma, multiple ClinVar PMID:22703879 PMID:24728327 PMID:25637381 PMID:25741868 PMID:26467025 More... NCBI chr17:1,548,449...1,613,461 JBrowse link
G Ptch2 patched 2 ISO ClinVar Annotator: match by term: Basal cell carcinoma, multiple ClinVar PMID:25741868 PMID:28492532 PMID:31945512 NCBI chr 5:130,571,956...130,592,506 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 JBrowse link
G Smo smoothened, frizzled class receptor ISO ClinVar Annotator: match by term: Basal cell carcinoma, multiple ClinVar PMID:25741868 PMID:28492532 NCBI chr 4:59,311,084...59,341,280 JBrowse link
Multiple Self-healing Palmoplantar Carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nlrp1a NLR family, pyrin domain containing 1A ISO ClinVar Annotator: match by term: Palmoplantar carcinoma, multiple self-healing ClinVar
OMIM
PMID:16199547 PMID:17377159 PMID:23349227 PMID:24033266 PMID:25050600 More... NCBI chr10:55,778,560...55,833,639 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 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 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 JBrowse link
G Arih2 ariadne RBR E3 ubiquitin protein ligase 2 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 8:118,175,267...118,234,425 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 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:24033266 NCBI chr 4:69,329,772...69,476,931 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 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 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 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 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 JBrowse link
G Clspn claspin ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 5:144,134,619...144,169,531 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 JBrowse link
G Coro2a coronin 2A ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 5:60,825,630...60,881,917 JBrowse link
G Dapk1 death associated protein kinase 1 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr17:3,935,826...4,096,858 JBrowse link
G Dchs1 dachsous cadherin-related 1 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar PMID:28492532 PMID:32381727 NCBI chr 1:160,104,931...160,138,958 JBrowse link
G Dyrk1b dual specificity tyrosine phosphorylation regulated kinase 1B ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 1:92,606,743...92,624,089 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 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 JBrowse link
G Ephb6 Eph receptor B6 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 4:71,458,632...71,473,889 JBrowse link
G Eppk1 epiplakin 1 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 7:107,816,919...107,842,946 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 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 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 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 JBrowse link
G Ftcd formimidoyltransferase cyclodeaminase ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar PMID:25741868 PMID:28492532 NCBI chr20:12,055,203...12,068,717 JBrowse link
G Gabrb3 gamma-aminobutyric acid type A receptor subunit beta 3 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 1:117,602,772...117,838,230 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 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 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 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 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 JBrowse link
G Ift140 intraflagellar transport 140 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr10:14,537,134...14,624,926 JBrowse link
G Igf2r insulin-like growth factor 2 receptor ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 1:50,526,878...50,615,265 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 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 JBrowse link
G Itgal integrin subunit alpha L ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 1:191,348,424...191,386,228 JBrowse link
G Itgb4 integrin subunit beta 4 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar PMID:25741868 NCBI chr10:101,705,592...101,741,933 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 JBrowse link
G Larp4b La ribonucleoprotein 4B ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr17:61,138,663...61,217,423 JBrowse link
G Lats1 large tumor suppressor kinase 1 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 1:3,980,801...4,014,029 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 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 JBrowse link
G Lrp10 LDL receptor related protein 10 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr15:31,891,358...31,897,530 JBrowse link
G Lrrfip1 LRR binding FLII interacting protein 1 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 9:99,039,590...99,167,805 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 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 JBrowse link
G Mlxipl MLX interacting protein-like ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr12:27,178,158...27,213,675 JBrowse link
G Mrrf mitochondrial ribosome recycling factor ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 3:39,884,530...39,941,317 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 JBrowse link
G Nr3c2 nuclear receptor subfamily 3, group C, member 2 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr19:47,619,853...47,964,089 JBrowse link
G Numa1 nuclear mitotic apparatus protein 1 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 1:165,709,893...165,784,848 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 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 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 JBrowse link
G Plagl1 PLAG1 like zinc finger 1 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 1:9,297,066...9,337,394 JBrowse link
G Pole DNA polymerase epsilon, catalytic subunit ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr12:52,005,155...52,053,761 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 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 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 JBrowse link
G Rabep2 rabaptin, RAB GTPase binding effector protein 2 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 1:190,433,501...190,457,241 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 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 JBrowse link
G Rbm4 RNA binding motif protein 4 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 1:211,507,845...211,516,907 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 JBrowse link
G Rpl36 ribosomal protein L36 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 9:1,529,117...1,534,534 JBrowse link
G Sacs sacsin molecular chaperone ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr15:35,285,783...35,370,335 JBrowse link
G Scnn1g sodium channel epithelial 1 subunit gamma ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 1:185,736,225...185,770,099 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 JBrowse link
G Slc27a5 solute carrier family 27 member 5 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 1:82,688,742...82,699,335 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 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 JBrowse link
G Specc1 sperm antigen with calponin homology and coiled-coil domains 1 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr10:47,138,351...47,412,311 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 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 JBrowse link
G Ston1 stonin 1 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 6:5,843,186...5,892,557 JBrowse link
G Syt7 synaptotagmin 7 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 1:207,031,359...207,093,787 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 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 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 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 JBrowse link
G Tgfbr1 transforming growth factor, beta receptor 1 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 5:66,449,348...66,506,371 JBrowse link
G Tln2 talin 2 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 8:76,712,112...77,133,361 JBrowse link
G Tmcc3 transmembrane and coiled-coil domain family 3 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 7:30,781,452...31,058,888 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 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 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 JBrowse link
G Trpv4 transient receptor potential cation channel, subfamily V, member 4 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr12:47,599,161...47,638,143 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 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 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 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 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 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 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 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 chr17:1,817,001...2,133,008 JBrowse link
G Arl3 ARF like GTPase 3 ISO ClinVar Annotator: match by term: Gorlin syndrome ClinVar PMID:12068298 PMID:22508808 PMID:25403219 PMID:28492532 PMID:31639285 NCBI chr 1:255,342,078...255,388,087 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 JBrowse link
G Fancc FA complementation group C ISO ClinVar Annotator: match by term: Gorlin syndrome ClinVar PMID:16301862 PMID:16419085 PMID:17703323 PMID:17924555 PMID:22382802 More... NCBI chr17:1,686,374...1,818,672 JBrowse link
G Gli1 GLI family zinc finger 1 ISO RGD PMID:15308259 RGD:12801443 NCBI chr 7:65,042,237...65,054,888 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 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: Gorlin syndrome | ClinVar Annotator: match by term: MULTIPLE BASAL CELL NEVI, ODONTOGENIC KERATOCYSTS, AND SKELETAL ANOMALIES
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 chr17:1,548,449...1,613,461 JBrowse link
G Ptch2 patched 2 ISO ClinVar Annotator: match by term: Basal cell nevus syndrome | 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 JBrowse link
G Pth parathyroid hormone ISO CTD Direct Evidence: marker/mechanism CTD PMID:24803734 NCBI chr 1:176,942,901...176,946,034 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 JBrowse link
G Shh sonic hedgehog signaling molecule ISO
ISS
MouseDO
RGD
PMID:9115210 RGD:12802345 NCBI chr 4:6,954,017...6,963,170 JBrowse link
G Smo smoothened, frizzled class receptor ISO RGD PMID:15308259 RGD:12801443 NCBI chr 4:59,311,084...59,341,280 JBrowse link
G Sufu SUFU negative regulator of hedgehog signaling ISS
ISO
OMIM:109400
ClinVar Annotator: match by term: Basal cell nevus syndrome | ClinVar Annotator: match by term: Gorlin syndrome
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 1:255,199,108...255,296,983 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 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 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 DNA:mutations:multiple
ClinVar Annotator: match by term: Basal cell nevus syndrome 1
ClinVar
OMIM
RGD
PMID:8658145 PMID:8681379 PMID:12900905 PMID:16199547 PMID:16301862 More... RGD:407424595 NCBI chr17:1,548,449...1,613,461 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 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 1:255,199,108...255,296,983 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 | ClinVar Annotator: match by term: RSPO1-related condition
OMIM
CTD
ClinVar
PMID:16158431 PMID:17041600 PMID:25741868 PMID:28492532 NCBI chr 5:137,251,629...137,273,273 JBrowse link
pilomatrixoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ctnnb1 catenin beta 1 ISO ClinVar Annotator: match by term: Calcifying epithelioma of Malherbe | ClinVar Annotator: match by term: Pilomatrixoma
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:9065402 PMID:9294210 PMID:9927029 PMID:10192393 PMID:10391090 More... NCBI chr 8:129,517,576...129,544,661 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:186631 PMID:2914711 PMID:11801590 PMID:11818965 PMID:12606733 More... NCBI chr 5:130,274,034...130,286,149 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 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 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 9:68,685,942...68,801,353 JBrowse link
G Eif2ak4 eukaryotic translation initiation factor 2 alpha kinase 4 ISO ClinVar Annotator: match by term: EIF2AK4-related condition | ClinVar Annotator: match by term: Familial pulmonary capillary hemangiomatosis OMIM
ClinVar
PMID:12215525 PMID:24033266 PMID:24135949 PMID:24292273 PMID:24310610 More... NCBI chr 3:125,810,207...125,895,574 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 JBrowse link
Sclerotylosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Smarcad1 SNF2 related chromatin remodeling ATPase with DExD 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 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 chr20:7,150,820...7,161,373 JBrowse link
G Lef1 lymphoid enhancer binding factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16565724 NCBI chr 2:222,340,541...222,453,931 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 1:227,287,713...227,306,739 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:8640234 PMID:8858131 More... NCBI chr14:81,211,800...81,227,215 JBrowse link
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha ISO ClinVar Annotator: match by term: Keratosis Seborrheica | ClinVar Annotator: match by term: Seborrheic keratosis
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:15016963 PMID:15520168 PMID:15608678 PMID:15930273 PMID:17376864 More... NCBI chr 2:117,103,643...117,177,411 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