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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:Skin Neoplasms
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Accession:DOID:9004464 term browser browse the term
Definition:Tumors or cancer of the SKIN.
Synonyms:exact_synonym: neoplasm of skin;   neoplasm of skin by site;   skin neoplasm;   tumor of the skin
 primary_id: MESH:D012878
 xref: EFO:0004198


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Skin Neoplasms term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G a nonagouti ISO CTD Direct Evidence: marker/mechanism CTD PMID:18488027 NCBI chr 2:154,792,519...154,892,932
Ensembl chr 2:154,633,322...154,892,932 		JBrowse link
G Ager advanced glycosylation end product-specific receptor IMP RGD PMID:18208974 RGD:8695988 NCBI chr17:34,816,545...34,819,911
Ensembl chr17:34,816,836...34,819,910 		JBrowse link
G Aire autoimmune regulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:26168014 NCBI chr10:77,865,856...77,879,444
Ensembl chr10:77,865,856...77,879,444 		JBrowse link
G Akt1 thymoma viral proto-oncogene 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21351258 NCBI chr12:112,620,260...112,641,266
Ensembl chr12:112,620,255...112,641,318 		JBrowse link
G Anxa1 annexin A1 IEP RGD PMID:22782996 RGD:7421558 NCBI chr19:20,350,798...20,368,035
Ensembl chr19:20,350,792...20,368,308 		JBrowse link
G Aqp3 aquaporin 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21401805 NCBI chr 4:41,092,724...41,098,183
Ensembl chr 4:41,092,722...41,098,183 		JBrowse link
G Casp8 caspase 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18563783 NCBI chr 1:58,834,553...58,886,663
Ensembl chr 1:58,834,533...58,886,662 		JBrowse link
G Cat catalase disease_progression
treatment		 IEP RGD PMID:1747937 PMID:21517247 RGD:9479155, RGD:9479189 NCBI chr 2:103,284,249...103,315,498
Ensembl chr 2:103,284,194...103,315,505 		JBrowse link
G Cdkn1a cyclin dependent kinase inhibitor 1A IMP RGD PMID:9264409 RGD:8662813 NCBI chr17:29,309,953...29,319,696
Ensembl chr17:29,309,950...29,319,701 		JBrowse link
G Cebpa CCAAT/enhancer binding protein alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:21346772 NCBI chr 7:34,818,718...34,821,353
Ensembl chr 7:34,818,718...34,821,353 		JBrowse link
G Csf3 colony stimulating factor 3 (granulocyte) ISO CTD Direct Evidence: therapeutic CTD PMID:9774950 NCBI chr11:98,591,287...98,594,457
Ensembl chr11:98,592,089...98,594,455 		JBrowse link
G Csnk2a1 casein kinase 2, alpha 1 polypeptide ISO CTD Direct Evidence: marker/mechanism CTD PMID:18572023 NCBI chr 2:152,068,468...152,123,772
Ensembl chr 2:152,068,759...152,123,772 		JBrowse link
G Csnk2a2 casein kinase 2, alpha prime polypeptide ISO CTD Direct Evidence: marker/mechanism CTD PMID:18572023 NCBI chr 8:96,172,724...96,215,505
Ensembl chr 8:96,172,724...96,216,667 		JBrowse link
G Csnk2b casein kinase 2, beta polypeptide ISO CTD Direct Evidence: marker/mechanism CTD PMID:18572023 NCBI chr17:35,335,171...35,341,029
Ensembl chr17:35,335,172...35,341,029 		JBrowse link
G Ctnnb1 catenin beta 1 IEP protein:increased expression:cytosol: RGD PMID:11517342 RGD:10395257 NCBI chr 9:120,762,466...120,789,573
Ensembl chr 9:120,758,282...120,789,573 		JBrowse link
G Cyld CYLD lysine 63 deubiquitinase susceptibility ISO familial cylindromatosis, OMIM:132700;DNA:nonsense mutations RGD PMID:10835629 RGD:1601033 NCBI chr 8:89,423,506...89,478,574
Ensembl chr 8:89,423,675...89,478,573 		JBrowse link
G Ephx1 epoxide hydrolase 1, microsomal ISO CTD Direct Evidence: marker/mechanism CTD PMID:26295053 NCBI chr 1:180,817,121...180,845,134
Ensembl chr 1:180,803,775...180,848,469 		JBrowse link
G Erbb4 erb-b2 receptor tyrosine kinase 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19718025 NCBI chr 1:68,071,063...69,147,756
Ensembl chr 1:68,071,345...69,147,218 		JBrowse link
G Ercc2 excision repair cross-complementing rodent repair deficiency, complementation group 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17050553 NCBI chr 7:19,115,942...19,129,619
Ensembl chr 7:19,115,935...19,129,619 		JBrowse link
G Flt1 FMS-like tyrosine kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19718025 NCBI chr 5:147,498,414...147,663,419
Ensembl chr 5:147,498,414...147,662,821 		JBrowse link
G Gja1 gap junction protein, alpha 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:7586191 NCBI chr10:56,253,297...56,266,519
Ensembl chr10:56,253,426...56,278,609 		JBrowse link
G Gjb2 gap junction protein, beta 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:7586191 NCBI chr14:57,336,059...57,342,159
Ensembl chr14:57,336,057...57,342,159 		JBrowse link
G Gjb5 gap junction protein, beta 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:7586191 NCBI chr 4:127,248,600...127,251,957
Ensembl chr 4:127,248,602...127,251,974 		JBrowse link
G Gli2 GLI-Kruppel family member GLI2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10700170 NCBI chr 1:118,761,791...118,987,578
Ensembl chr 1:118,761,862...118,981,349 		JBrowse link
G Gstt1 glutathione S-transferase, theta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26295053 NCBI chr10:75,619,647...75,634,418
Ensembl chr10:75,619,647...75,634,418 		JBrowse link
G Gypa glycophorin A ISO CTD Direct Evidence: marker/mechanism CTD PMID:17029826 NCBI chr 8:81,220,674...81,237,414
Ensembl chr 8:81,220,410...81,237,171 		JBrowse link
G Hcar2 hydroxycarboxylic acid receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21655214 NCBI chr 5:124,001,633...124,003,579
Ensembl chr 5:124,001,633...124,003,562 		JBrowse link
G Hgf hepatocyte growth factor susceptibility IDA RGD PMID:10919643 RGD:8548621 NCBI chr 5:16,758,493...16,827,448
Ensembl chr 5:16,758,493...16,825,150 		JBrowse link
G Hif1a hypoxia inducible factor 1, alpha subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:19276359 NCBI chr12:73,948,186...73,994,304
Ensembl chr12:73,948,149...73,994,304 		JBrowse link
G Hras Harvey rat sarcoma virus oncogene ISO CTD Direct Evidence: marker/mechanism CTD PMID:8330346 PMID:8508502 PMID:9766437 PMID:15958052 PMID:18758463 More... NCBI chr 7:140,770,839...140,773,938
Ensembl chr 7:140,769,018...140,773,918 		JBrowse link
G Igf1 insulin-like growth factor 1 ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:24353828 PMID:9135074 RGD:8549453 NCBI chr10:87,694,127...87,772,909
Ensembl chr10:87,694,127...87,772,904 		JBrowse link
G Igf1r insulin-like growth factor I receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:10365914 NCBI chr 7:67,601,486...67,883,416
Ensembl chr 7:67,602,575...67,883,416 		JBrowse link
G Il1a interleukin 1 alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:8435107 NCBI chr 2:129,141,530...129,151,892
Ensembl chr 2:129,141,530...129,151,892 		JBrowse link
G Ivl involucrin ISO CTD Direct Evidence: marker/mechanism CTD PMID:18572023 NCBI chr 3:92,478,206...92,481,097
Ensembl chr 3:92,478,209...92,481,042 		JBrowse link
G Krt1 keratin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18572023 NCBI chr15:101,753,861...101,759,221
Ensembl chr15:101,753,861...101,759,229 		JBrowse link
G Krt10 keratin 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18572023 NCBI chr11:99,276,080...99,288,631
Ensembl chr11:99,276,080...99,280,190 		JBrowse link
G Krt17 keratin 17 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26168014 NCBI chr11:100,147,041...100,151,855
Ensembl chr11:100,147,043...100,151,855 		JBrowse link
G Loricrin loricrin cornified envelope precursor protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:18572023 NCBI chr 3:91,987,578...91,990,447
Ensembl chr 3:91,987,578...91,990,449 		JBrowse link
G Map2k4 mitogen-activated protein kinase kinase 4 treatment IDA RGD PMID:21378167 RGD:7495826 NCBI chr11:65,579,070...65,679,185
Ensembl chr11:65,579,069...65,679,123 		JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18572023 NCBI chr 2:164,782,246...164,797,770
Ensembl chr 2:164,782,700...164,797,770 		JBrowse link
G Nfe2l2 nuclear factor, erythroid derived 2, like 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18572023 NCBI chr 2:75,505,860...75,535,007
Ensembl chr 2:75,505,857...75,534,985 		JBrowse link
G Nme2 NME/NM23 nucleoside diphosphate kinase 2 IEP protein:increased expression:tumor (mouse) RGD PMID:14623877 RGD:5132889 NCBI chr11:93,840,640...93,847,082
Ensembl chr11:93,840,640...93,847,085 		JBrowse link
G Notch1 notch 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27923803 NCBI chr 2:26,347,914...26,393,834
Ensembl chr 2:26,347,915...26,406,675 		JBrowse link
G Notch2 notch 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27923803 NCBI chr 3:97,920,854...98,057,683
Ensembl chr 3:97,920,843...98,057,677 		JBrowse link
G Notch3 notch 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27923803 NCBI chr17:32,339,794...32,385,869
Ensembl chr17:32,339,794...32,385,826 		JBrowse link
G Notch4 notch 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27923803 NCBI chr17:34,783,257...34,807,517
Ensembl chr17:34,783,242...34,807,477 		JBrowse link
G Nppa natriuretic peptide type A ISO CTD Direct Evidence: therapeutic CTD PMID:18004088 NCBI chr 4:148,085,179...148,086,531
Ensembl chr 4:148,085,179...148,086,536 		JBrowse link
G Nppc natriuretic peptide type C ISO CTD Direct Evidence: therapeutic CTD PMID:37352108 NCBI chr 1:86,594,015...86,598,295
Ensembl chr 1:86,594,013...86,598,293 		JBrowse link
G Nsd1 nuclear receptor-binding SET-domain protein 1 IMP RGD PMID:22832494 RGD:9590156 NCBI chr13:55,357,595...55,466,138
Ensembl chr13:55,357,595...55,466,138 		JBrowse link
G Odc1 ornithine decarboxylase, structural 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:2591024 PMID:7653998 NCBI chr12:17,594,906...17,601,503
Ensembl chr12:17,594,795...17,601,506 		JBrowse link
G Plcd1 phospholipase C, delta 1 IMP RGD PMID:12805213 RGD:1302551 NCBI chr 9:118,900,595...118,922,570
Ensembl chr 9:118,900,595...118,922,570 		JBrowse link
G Pot1a protection of telomeres 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:24686849 NCBI chr 6:25,743,939...25,809,280
Ensembl chr 6:25,743,736...25,809,245 		JBrowse link
G Ppard peroxisome proliferator activator receptor delta ISO CTD Direct Evidence: marker/mechanism|therapeutic CTD PMID:19748995 PMID:21159610 NCBI chr17:28,451,715...28,520,446
Ensembl chr17:28,451,674...28,520,448 		JBrowse link
G Ptch1 patched 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9581815 NCBI chr13:63,656,142...63,721,274
Ensembl chr13:63,656,142...63,721,412 		JBrowse link
G Pten phosphatase and tensin homolog IMP RGD PMID:21771908 RGD:127285609 NCBI chr19:32,734,977...32,803,560
Ensembl chr19:32,734,897...32,803,560 		JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17499752 PMID:19748995 PMID:21159610 NCBI chr 1:149,975,851...149,983,978
Ensembl chr 1:149,975,782...149,983,978 		JBrowse link
G Ptk2b PTK2 protein tyrosine kinase 2 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:19718025 NCBI chr14:66,390,706...66,518,549
Ensembl chr14:66,390,706...66,518,501 		JBrowse link
G Rela v-rel reticuloendotheliosis viral oncogene homolog A (avian) ISO CTD Direct Evidence: marker/mechanism CTD PMID:23069812 NCBI chr19:5,686,993...5,698,162
Ensembl chr19:5,687,511...5,698,158 		JBrowse link
G Smo smoothened, frizzled class receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:9581815 NCBI chr 6:29,735,480...29,761,359
Ensembl chr 6:29,735,502...29,761,364 		JBrowse link
G Sod2 superoxide dismutase 2, mitochondrial disease_progression IMP
ISO
IEP		 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 chr17:13,226,726...13,237,006
Ensembl chr17:13,225,733...13,258,950 		JBrowse link
G Sp1 trans-acting transcription factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22009531 NCBI chr15:102,314,751...102,344,839
Ensembl chr15:102,314,578...102,344,839 		JBrowse link
G Stat3 signal transducer and activator of transcription 3 IMP RGD PMID:19137019 PMID:18453544 RGD:8694289, RGD:8694294 NCBI chr11:100,777,632...100,830,447
Ensembl chr11:100,775,924...100,830,366 		JBrowse link
G Tgfb1 transforming growth factor, beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:8148055 NCBI chr 7:25,386,406...25,404,503
Ensembl chr 7:25,386,427...25,404,502 		JBrowse link
G Tgfbr1 transforming growth factor, beta receptor I ISO CTD Direct Evidence: marker/mechanism CTD PMID:21358634 NCBI chr 4:47,353,258...47,414,926
Ensembl chr 4:47,353,222...47,414,931 		JBrowse link
G Trp53 transformation related protein 53 ISO
EXP		 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 chr11:69,471,174...69,482,699
Ensembl chr11:69,471,185...69,482,699 		JBrowse link
G Tyr tyrosinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:18488027 NCBI chr 7:87,073,979...87,142,637
Ensembl chr 7:87,073,979...87,142,720 		JBrowse link
G Vegfa vascular endothelial growth factor A IMP RGD PMID:15150105 RGD:7421589 NCBI chr17:46,327,919...46,343,303
Ensembl chr17:46,327,919...46,343,295 		JBrowse link
G Xpa xeroderma pigmentosum, complementation group A ISO CTD Direct Evidence: marker/mechanism CTD PMID:10755388 PMID:16962818 NCBI chr 4:46,175,222...46,196,317
Ensembl chr 4:46,155,347...46,196,311 		JBrowse link
G Xrcc3 X-ray repair complementing defective repair in Chinese hamster cells 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11059748 PMID:16501254 NCBI chr12:111,769,626...111,780,326
Ensembl chr12:111,769,626...111,780,307 		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:133,488,912...133,501,707
Ensembl chr  X:133,488,898...133,501,874 		JBrowse link
G Naga N-acetyl galactosaminidase, alpha ISO Kanzaki Disease, OMIM:609242, DNA:point mutation:exon:R329W RGD PMID:8040340 RGD:1600558 NCBI chr15:82,213,746...82,222,983
Ensembl chr15:82,213,733...82,223,126 		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 1:83,094,487...83,096,888
Ensembl chr 1:83,094,487...83,096,888 		JBrowse link
G Cd8a CD8 subunit alpha ISO mRNA:decreased expression:zone of skin (human) RGD PMID:25774455 RGD:36174028 NCBI chr 6:71,350,411...71,356,155
Ensembl chr 6:71,350,411...71,356,157 		JBrowse link
G Ctla4 cytotoxic T-lymphocyte-associated protein 4 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr 1:60,948,184...60,954,991
Ensembl chr 1:60,926,159...60,954,991 		JBrowse link
G Foxp3 forkhead box P3 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr  X:7,445,915...7,461,482
Ensembl chr  X:7,439,883...7,461,484 		JBrowse link
G Ifna16 interferon alpha 16 treatment ISO RGD PMID:25774455 RGD:36174028 NCBI chr 4:88,594,524...88,595,093
Ensembl chr 4:88,594,152...88,595,161 		JBrowse link
G Il10 interleukin 10 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr 1:130,947,459...130,952,707
Ensembl chr 1:130,947,582...130,952,711 		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 chr11:44,290,890...44,305,504
Ensembl chr11:44,290,890...44,304,860 		JBrowse link
G Il2 interleukin 2 ISO protein:decreased expression:peripheral blood mononuclear cells (human) RGD PMID:23754510 RGD:40400714 NCBI chr 3:37,174,862...37,180,103
Ensembl chr 3:37,174,672...37,180,108 		JBrowse link
G Il21 interleukin 21 ISO protein:decreased expression:blood serum (human) RGD PMID:31414711 RGD:127285371 NCBI chr 3:37,276,908...37,286,785
Ensembl chr 3:37,276,908...37,286,785 		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 chr11:53,503,287...53,509,492
Ensembl chr11:53,493,809...53,509,496 		JBrowse link
G Il6 interleukin 6 ISO protein:decreased expression:peripheral blood mononuclear cells (human) RGD PMID:23754510 RGD:40400714 NCBI chr 5:30,218,112...30,224,973
Ensembl chr 5:30,218,112...30,224,979 		JBrowse link
G Klrk1 killer cell lectin-like receptor subfamily K, member 1 ISO mRNA,protein:decreased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr 6:129,587,286...129,600,863
Ensembl chr 6:129,587,286...129,600,827 		JBrowse link
G Mapk8 mitogen-activated protein kinase 8 treatment ISO mRNA:increased expression:zone of skin (human) RGD PMID:25774455 RGD:36174028 NCBI chr14:33,099,855...33,169,213
Ensembl chr14:33,099,855...33,169,115 		JBrowse link
G Myd88 myeloid differentiation primary response gene 88 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr 9:119,165,000...119,169,084
Ensembl chr 9:119,165,000...119,170,477 		JBrowse link
G Ncr1 natural cytotoxicity triggering receptor 1 ISO mRNA,protein:decreased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr 7:4,340,714...4,348,183
Ensembl chr 7:4,340,723...4,348,163 		JBrowse link
G Pdcd1 programmed cell death 1 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr 1:93,966,027...93,980,278
Ensembl chr 1:93,966,027...93,980,278 		JBrowse link
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 ISO protein:increased expression:foreskin RGD PMID:18543080 RGD:39128248 NCBI chr 5:121,268,596...121,329,460
Ensembl chr 5:121,268,596...121,329,460 		JBrowse link
G Ptpn6 protein tyrosine phosphatase, non-receptor type 6 ISO protein:increased expression:foreskin RGD PMID:18543080 RGD:39128248 NCBI chr 6:124,697,670...124,715,672
Ensembl chr 6:124,697,670...124,715,677 		JBrowse link
G Serpinf1 serine (or cysteine) peptidase inhibitor, clade F, member 1 disease_progression ISO mRNA, protein:decreased expression:skin of body (human) RGD PMID:23569025 RGD:27226706 NCBI chr11:75,300,855...75,313,449
Ensembl chr11:75,300,595...75,313,527 		JBrowse link
G Tgfb1 transforming growth factor, beta 1 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr 7:25,386,406...25,404,503
Ensembl chr 7:25,386,427...25,404,502 		JBrowse link
G Tlr2 toll-like receptor 2 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr 3:83,743,579...83,749,045
Ensembl chr 3:83,743,579...83,749,074 		JBrowse link
G Tlr3 toll-like receptor 3 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr 8:45,848,702...45,864,112
Ensembl chr 8:45,848,702...45,864,117 		JBrowse link
G Tlr4 toll-like receptor 4 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr 4:66,745,788...66,765,338
Ensembl chr 4:66,745,821...66,848,521 		JBrowse link
G Tlr7 toll-like receptor 7 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr  X:166,086,376...166,113,570
Ensembl chr  X:166,087,925...166,113,554 		JBrowse link
G Tlr8 toll-like receptor 8 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr  X:166,024,119...166,047,325
Ensembl chr  X:166,025,692...166,047,325 		JBrowse link
G Tlr9 toll-like receptor 9 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr 9:106,099,797...106,104,075
Ensembl chr 9:106,099,797...106,104,082 		JBrowse link
G Tnf tumor necrosis factor ISO protein:increased expression:peripheral blood mononuclear cells (human) RGD PMID:23754510 RGD:40400714 NCBI chr17:35,418,343...35,420,983
Ensembl chr17:35,418,357...35,420,983 		JBrowse link
G Tnfrsf18 tumor necrosis factor receptor superfamily, member 18 ISO mRNA,protein:increased expression:multiple (human) RGD PMID:23754510 RGD:40400714 NCBI chr 4:156,110,779...156,113,351
Ensembl chr 4:156,110,621...156,113,352 		JBrowse link
basal cell carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G a nonagouti ISO CTD Direct Evidence: marker/mechanism CTD PMID:18488027 NCBI chr 2:154,792,519...154,892,932
Ensembl chr 2:154,633,322...154,892,932 		JBrowse link
G Bap1 Brca1 associated protein 1 ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:26719535 PMID:25080371 RGD:9586038 NCBI chr14:30,973,358...30,981,887
Ensembl chr14:30,973,407...30,981,901 		JBrowse link
G Ccnh cyclin H ISO ClinVar Annotator: match by term: BCC1 | ClinVar Annotator: match by term: Basal cell carcinoma, somatic | ClinVar Annotator: match by term: Basal cell carcinoma, susceptibility to, 1 ClinVar PMID:8275088 PMID:18446851 PMID:24038909 PMID:24274751 PMID:25741868 More... NCBI chr13:85,337,504...85,361,850
Ensembl chr13:85,337,527...85,371,588 		JBrowse link
G Clptm1l CLPTM1-like ISO CTD Direct Evidence: marker/mechanism CTD PMID:19151717 NCBI chr13:73,752,121...73,768,758
Ensembl chr13:73,752,125...73,768,724 		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 2:145,759,402...145,776,620
Ensembl chr 2:145,759,399...145,776,934 		JBrowse link
G Ctcf CCCTC-binding factor ISO DNA:mutations:multiple (human) RGD PMID:27974201 RGD:151356739 NCBI chr 8:106,351,135...106,409,554
Ensembl chr 8:106,363,200...106,409,554 		JBrowse link
G Ctla4 cytotoxic T-lymphocyte-associated protein 4 susceptibility ISO DNA:SNP: :rs3087243(human) RGD PMID:19622768 RGD:7411686 NCBI chr 1:60,948,184...60,954,991
Ensembl chr 1:60,926,159...60,954,991 		JBrowse link
G Erbb2 erb-b2 receptor tyrosine kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26950094 NCBI chr11:98,303,310...98,328,542
Ensembl chr11:98,303,296...98,328,542 		JBrowse link
G Fbxw7 F-box and WD-40 domain protein 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26950094 NCBI chr 3:84,721,901...84,886,505
Ensembl chr 3:84,722,575...84,886,505 		JBrowse link
G Gli2 GLI-Kruppel family member GLI2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10700170 NCBI chr 1:118,761,791...118,987,578
Ensembl chr 1:118,761,862...118,981,349 		JBrowse link
G Hhip Hedgehog-interacting protein treatment IEP
IDA		 mRNA:increased expression:skin: RGD PMID:15024045 PMID:15024045 RGD:11552592, RGD:11552592 NCBI chr 8:80,692,480...80,784,637
Ensembl chr 8:80,692,480...80,784,635 		JBrowse link
G Il6 interleukin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22108589 NCBI chr 5:30,218,112...30,224,973
Ensembl chr 5:30,218,112...30,224,979 		JBrowse link
G Krt17 keratin 17 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20871598 NCBI chr11:100,147,041...100,151,855
Ensembl chr11:100,147,043...100,151,855 		JBrowse link
G Krt5 keratin 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19578363 PMID:20871598 NCBI chr15:101,615,504...101,621,340
Ensembl chr15:101,615,505...101,621,333 		JBrowse link
G Lats1 large tumor suppressor ISO CTD Direct Evidence: marker/mechanism CTD PMID:26950094 NCBI chr10:7,556,964...7,592,225
Ensembl chr10:7,556,978...7,592,224 		JBrowse link
G Mc1r melanocortin 1 receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539553 NCBI chr 8:124,133,839...124,137,483
Ensembl chr 8:124,133,846...124,137,483 		JBrowse link
G Mycn v-myc avian myelocytomatosis viral related oncogene, neuroblastoma derived ISO CTD Direct Evidence: marker/mechanism CTD PMID:26950094 NCBI chr12:12,986,094...12,991,837
Ensembl chr12:12,986,094...12,991,915 		JBrowse link
G Oca2 oculocutaneous albinism II 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 7:55,889,341...56,186,266
Ensembl chr 7:55,889,508...56,186,266 		JBrowse link
G Ogg1 8-oxoguanine DNA-glycosylase 1 no_association ISO DNA:missense mutation: :p.S326C (rs1052133)(human) RGD PMID:22436579 PMID:15466987 RGD:8657137, RGD:8657158 NCBI chr 6:113,303,959...113,311,149
Ensembl chr 6:113,303,933...113,312,029 		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 7:121,706,485...121,732,203
Ensembl chr 7:121,706,485...121,732,208 		JBrowse link
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:26950094 NCBI chr 3:32,451,203...32,520,256
Ensembl chr 3:32,451,820...32,522,635 		JBrowse link
G Ppp6c protein phosphatase 6, catalytic subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:26950094 NCBI chr 2:39,084,381...39,116,361
Ensembl chr 2:39,084,366...39,116,463 		JBrowse link
G Ptch1 patched 1 disease_progression IMP
ISO
IAGP		 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
OMIM:605462 | OMIM:613058 | OMIM:613059 | OMIM:613061 | OMIM:613062 | OMIM:613063 | OMIM:614740
mRNA:increased expression:skin of body
CTD Direct Evidence: marker/mechanism		 ClinVar
OMIM
MouseDO
CTD
RGD		 PMID:8782823 PMID:8840969 PMID:9581815 PMID:9620294 PMID:11231326 More... RGD:704355, RGD:12801453 NCBI chr13:63,656,142...63,721,274
Ensembl chr13:63,656,142...63,721,412 		JBrowse link
G Ptch2 patched 2 ISO ClinVar Annotator: match by term: Basal cell carcinoma, somatic | ClinVar Annotator: match by term: Basal cell carcinoma, susceptibility to, 1 | ClinVar Annotator: match by term: PTCH2-related condition
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:9931336 PMID:17576681 PMID:25741868 PMID:28492532 More... NCBI chr 4:116,953,253...116,973,298
Ensembl chr 4:116,953,272...116,973,298 		JBrowse link
G Ptpn14 protein tyrosine phosphatase, non-receptor type 14 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26950094 NCBI chr 1:189,460,417...189,608,892
Ensembl chr 1:189,460,465...189,608,892 		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
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM
RGD		 PMID:8275088 PMID:18446851 PMID:22200646 PMID:23801933 PMID:24038909 More... RGD:737716 NCBI chr13:85,362,893...85,437,487
Ensembl chr13:85,362,899...85,437,249 		JBrowse link
G Rb1 RB transcriptional corepressor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26950094 NCBI chr14:73,430,298...73,563,446
Ensembl chr14:73,421,113...73,563,262 		JBrowse link
G Rpe65 retinal pigment epithelium 65 ISO mRNA:increased expression:skin (human) RGD PMID:16181461 RGD:9495923 NCBI chr 3:159,304,712...159,330,944
Ensembl chr 3:159,304,812...159,330,958 		JBrowse link
G Shh sonic hedgehog ISO DNA, protein:hypermethylation, decreased expression:skin of body RGD PMID:23284750 RGD:12801452 NCBI chr 5:28,661,838...28,672,099
Ensembl chr 5:28,661,813...28,672,254 		JBrowse link
G Slc45a2 solute carrier family 45, member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19578363 NCBI chr15:11,000,807...11,029,319
Ensembl chr15:11,000,807...11,029,319 		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 | ClinVar Annotator: match by term: Basal cell carcinoma, somatic
mRNA:increased expression:skin of body
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD
RGD		 PMID:9422511 PMID:9581815 PMID:19726788 PMID:22679179 PMID:25741868 More... RGD:704355, RGD:12801453 NCBI chr 6:29,735,480...29,761,359
Ensembl chr 6:29,735,502...29,761,364 		JBrowse link
G Stk19 serine/threonine kinase 19 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26950094 NCBI chr17:35,042,969...35,055,879
Ensembl chr17:35,042,969...35,055,921 		JBrowse link
G Sufu SUFU negative regulator of hedgehog signaling ISO CTD Direct Evidence: marker/mechanism CTD PMID:26950094 NCBI chr19:46,385,335...46,477,243
Ensembl chr19:46,385,335...46,477,243 		JBrowse link
G Tert telomerase reverse transcriptase ISO CTD Direct Evidence: marker/mechanism CTD PMID:19151717 NCBI chr13:73,775,030...73,797,962
Ensembl chr13:73,775,030...73,797,962 		JBrowse link
G Trp53 transformation related protein 53 ISO DNA:mutations:cds:
ClinVar Annotator: match by term: Basal cell carcinoma, susceptibility to, 7
ClinVar Annotator: match by term: Basal cell carcinoma, susceptibility to, 1 | ClinVar Annotator: match by term: Basal cell carcinoma, susceptibility to, 7
CTD Direct Evidence: marker/mechanism		 ClinVar
OMIM
CTD
RGD		 PMID:1565143 PMID:1565144 PMID:1591732 PMID:1631137 PMID:1683921 More... RGD:8547844, RGD:8547848 NCBI chr11:69,471,174...69,482,699
Ensembl chr11:69,471,185...69,482,699 		JBrowse link
G Tyr tyrosinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:18488027 NCBI chr 7:87,073,979...87,142,637
Ensembl chr 7:87,073,979...87,142,720 		JBrowse link
G Vdr vitamin D (1,25-dihydroxyvitamin D3) receptor ISO DNA:SNPs, haplotype: :rs731236, rs7975232 (human)
mRNA:increased expression:skin		 RGD PMID:22213323 PMID:15077124 RGD:8158063, RGD:8158076 NCBI chr15:97,752,308...97,806,177
Ensembl chr15:97,752,306...97,808,511 		JBrowse link
G Xpa xeroderma pigmentosum, complementation group A ISO CTD Direct Evidence: marker/mechanism CTD PMID:17687452 NCBI chr 4:46,175,222...46,196,317
Ensembl chr 4:46,155,347...46,196,311 		JBrowse link
G Xrcc3 X-ray repair complementing defective repair in Chinese hamster cells 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16501254 NCBI chr12:111,769,626...111,780,326
Ensembl chr12:111,769,626...111,780,307 		JBrowse link
G Xrcc5 X-ray repair complementing defective repair in Chinese hamster cells 5 ISO protein:increased expression:epidermal cell, basal cell of epidermis (human) RGD PMID:16497868 RGD:8698657 NCBI chr 1:72,346,576...72,434,112
Ensembl chr 1:72,346,586...72,434,111 		JBrowse link
G Xrcc6 X-ray repair complementing defective repair in Chinese hamster cells 6 ISO protein:increased expression:epidermal cell, basal cell of epidermis (human) RGD PMID:16497868 RGD:8698657 NCBI chr15:81,868,805...81,924,286
Ensembl chr15:81,872,036...81,924,286 		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 chr13:63,656,142...63,721,274
Ensembl chr13:63,656,142...63,721,412 		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 chr 5:142,888,870...142,892,509
Ensembl chr 5:142,888,870...142,892,509 		JBrowse link
Blue Rubber Bleb Nevus Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Glmn glomulin, FKBP associated protein ISO ClinVar Annotator: match by term: Blue rubber bleb nevus ClinVar NCBI chr 5:107,696,828...107,745,754
Ensembl chr 5:107,696,833...107,745,754 		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 4:94,627,322...94,763,213
Ensembl chr 4:94,627,526...94,763,213 		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 9:7,818,227...7,837,123
Ensembl chr 9:7,818,228...7,837,065 		JBrowse link
G Birc3 baculoviral IAP repeat-containing 3 ISO mRNA:increased expression:perianal skin (human) RGD PMID:20346172 RGD:152998971 NCBI chr 9:7,848,698...7,873,199
Ensembl chr 9:7,848,700...7,873,187 		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 chr 8:89,423,506...89,478,574
Ensembl chr 8:89,423,675...89,478,573 		JBrowse link
capillary hemangioma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Akt3 thymoma viral proto-oncogene 3 ISO ClinVar Annotator: match by term: Capillary hemangioma ClinVar PMID:22729224 PMID:23745724 PMID:24705253 PMID:25741868 PMID:28492532 More... NCBI chr 1:176,847,642...177,091,688
Ensembl chr 1:176,847,639...177,085,769 		JBrowse link
G Ccn1 cellular communication network factor 1 disease_progression ISO mRNA:increased expression:skin (human) RGD PMID:33587560 RGD:329845523 NCBI chr 3:145,352,726...145,355,740
Ensembl chr 3:145,352,731...145,355,736 		JBrowse link
G Npc1 NPC intracellular cholesterol transporter 1 ISO ClinVar Annotator: match by term: Capillary hemangioma ClinVar PMID:25741868 NCBI chr18:12,322,751...12,369,851
Ensembl chr18:12,322,749...12,369,457 		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 6:113,600,955...113,608,595
Ensembl chr 6:113,600,920...113,608,594 		JBrowse link
cutaneous Paget's disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha severity ISO DNA:mutations:multiple: RGD PMID:22522847 RGD:14402410 NCBI chr 3:32,451,203...32,520,256
Ensembl chr 3:32,451,820...32,522,635 		JBrowse link
dermatopathia pigmentosa reticularis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Krt14 keratin 14 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Dermatopathia pigmentosa reticularis		 OMIM
CTD
ClinVar		 PMID:1303619 PMID:1717157 PMID:10730767 PMID:11710919 PMID:16098032 More... NCBI chr11:100,093,988...100,098,336
Ensembl chr11:100,093,988...100,098,374 		JBrowse link
eccrine porocarcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kmt2d lysine (K)-specific methyltransferase 2D ISO ClinVar Annotator: match by term: Eccrine porocarcinoma ClinVar PMID:28492532 NCBI chr15:98,729,550...98,771,958
Ensembl chr15:98,729,550...98,769,085 		JBrowse link
G Mre11a MRE11A homolog A, double strand break repair nuclease ISO ClinVar Annotator: match by term: Eccrine porocarcinoma ClinVar NCBI chr 9:14,695,971...14,748,421
Ensembl chr 9:14,695,950...14,748,419 		JBrowse link
G Tbx3 T-box 3 ISO ClinVar Annotator: match by term: Eccrine porocarcinoma ClinVar NCBI chr 5:119,808,600...119,822,789
Ensembl chr 5:119,808,734...119,822,789 		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 gene family 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 chr11:117,656,811...117,673,019
Ensembl chr11:117,656,814...117,673,024 		JBrowse link
G Tmc8 transmembrane channel-like gene family 8 ISO ClinVar Annotator: match by term: Epidermodysplasia verruciformis ClinVar PMID:9536098 PMID:10084299 PMID:12426567 PMID:16045695 PMID:16199547 More... NCBI chr11:117,672,396...117,683,963
Ensembl chr11:117,672,902...117,683,936 		JBrowse link
G Tnrc6c trinucleotide repeat containing 6C ISO ClinVar Annotator: match by term: Epidermodysplasia verruciformis ClinVar PMID:28492532 NCBI chr11:117,544,529...117,654,265
Ensembl chr11:117,545,115...117,654,265 		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 gene family 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 chr11:117,656,811...117,673,019
Ensembl chr11:117,656,814...117,673,024 		JBrowse link
G Tmc8 transmembrane channel-like gene family 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 chr11:117,672,396...117,683,963
Ensembl chr11:117,672,902...117,683,936 		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 gene family 6 ISO ClinVar Annotator: match by term: Epidermodysplasia verruciformis, susceptibility to, 2 ClinVar PMID:9536098 PMID:17576681 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr11:117,656,811...117,673,019
Ensembl chr11:117,656,814...117,673,024 		JBrowse link
G Tmc8 transmembrane channel-like gene family 8 susceptibility ISO ClinVar Annotator: match by term: Epidermodysplasia verruciformis 2 | ClinVar Annotator: match by term: Epidermodysplasia verruciformis, susceptibility to, 2 ClinVar
OMIM		 PMID:9536098 PMID:10084299 PMID:12426567 PMID:17576681 PMID:22158547 More... NCBI chr11:117,672,396...117,683,963
Ensembl chr11:117,672,902...117,683,936 		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: Epidermodysplasia verruciformis, susceptibility to, 3 ClinVar
OMIM		 PMID:228581 PMID:19702156 PMID:20982046 PMID:21196704 PMID:28492532 More... NCBI chr 7:79,876,904...79,882,367
Ensembl chr 7:79,876,895...79,882,561 		JBrowse link
Epidermodysplasia Verruciformis 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rhoh ras homolog family member H susceptibility ISO ClinVar Annotator: match by term: Epidermodysplasia verruciformis, susceptibility to, 4 OMIM
ClinVar		 PMID:22850876 PMID:25741868 PMID:28492532 NCBI chr 5:66,018,092...66,054,043
Ensembl chr 5:66,018,556...66,054,043 		JBrowse link
Epidermodysplasia Verruciformis 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il7 interleukin 7 susceptibility ISO ClinVar Annotator: match by term: Epidermodysplasia verruciformis, susceptibility to, 5 OMIM
ClinVar		 PMID:25981006 NCBI chr 3:7,637,088...7,678,820
Ensembl chr 3:7,635,054...7,678,820 		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 chr11:99,276,080...99,288,631
Ensembl chr11:99,276,080...99,280,190 		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 chr10:120,759,316...120,815,491
Ensembl chr10:120,759,318...120,815,237 		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 chr10:126,911,154...126,929,039
Ensembl chr10:126,911,153...126,929,038 		JBrowse link
G Arhgap9 Rho GTPase activating protein 9 ISO ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:28492532 NCBI chr10:127,157,829...127,165,816
Ensembl chr10:127,157,833...127,165,812 		JBrowse link
G Arhgef25 Rho guanine nucleotide exchange factor 25 ISO ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:28492532 NCBI chr10:127,018,390...127,025,952
Ensembl chr10:127,018,394...127,025,952 		JBrowse link
G B4galnt1 beta-1,4-N-acetyl-galactosaminyl transferase 1 ISO ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:28492532 NCBI chr10:127,001,025...127,008,209
Ensembl chr10:127,001,094...127,008,199 		JBrowse link
G Bap1 Brca1 associated protein 1 ISO ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:21874000 PMID:23684012 PMID:25741868 PMID:28492532 NCBI chr14:30,973,358...30,981,887
Ensembl chr14:30,973,407...30,981,901 		JBrowse link
G Braf Braf transforming gene ISO ClinVar Annotator: match by term: MELANOMA AND RENAL CELL CARCINOMA, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 1 ClinVar
OMIM		 PMID:2500657 PMID:16439621 PMID:16474404 PMID:17366577 PMID:17551924 More... NCBI chr 6:39,580,171...39,702,592
Ensembl chr 6:39,580,171...39,702,397 		JBrowse link
G Cdk4 cyclin dependent kinase 4 ISO ClinVar Annotator: match by term: Cutaneous Malignant Melanoma, Dominant | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5
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: 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		 OMIM
ClinVar		 PMID:5377176 PMID:7652577 PMID:8528263 PMID:8968104 PMID:9228064 More... NCBI chr10:126,899,404...126,903,157
Ensembl chr10:126,899,403...126,903,789 		JBrowse link
G Cdkn2a cyclin dependent kinase inhibitor 2A ISO ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Hereditary cutaneous melanoma | ClinVar Annotator: match by term: MELANOMA 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: 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, 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: Familial melanoma | ClinVar Annotator: match by term: Hereditary cutaneous melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 2 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5
ClinVar Annotator: match by term: Cutaneous Malignant Melanoma, Dominant | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Hereditary cutaneous melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 2
ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Hereditary cutaneous melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 2 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5
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 4:89,192,710...89,212,856
Ensembl chr 4:89,192,708...89,212,890 		JBrowse link
G Cdkn2b cyclin dependent kinase inhibitor 2B ISO ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:9622062 PMID:28492532 NCBI chr 4:89,224,526...89,229,269
Ensembl chr 4:89,224,536...89,229,276 		JBrowse link
G Cyp27b1 cytochrome P450, family 27, subfamily b, polypeptide 1 ISO ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:28492532 NCBI chr10:126,884,115...126,891,897
Ensembl chr10:126,884,119...126,888,875 		JBrowse link
G Dctn2 dynactin 2 ISO ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:28492532 NCBI chr10:127,102,131...127,117,828
Ensembl chr10:127,102,237...127,117,819 		JBrowse link
G Ddit3 DNA-damage inducible transcript 3 ISO ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:28492532 NCBI chr10:127,126,662...127,132,160
Ensembl chr10:127,126,643...127,132,157
Ensembl chr10:127,126,643...127,132,157 		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 chr14:30,982,332...31,045,926
Ensembl chr14:30,982,332...31,045,853 		JBrowse link
G Dtx3 deltex 3, E3 ubiquitin ligase ISO ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:28492532 NCBI chr10:127,026,242...127,032,367
Ensembl chr10:127,026,247...127,031,597 		JBrowse link
G Eef1akmt3 EEF1A lysine methyltransferase 3 ISO ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:28492532 NCBI chr10:126,868,654...126,877,883
Ensembl chr10:126,866,873...126,877,382 		JBrowse link
G Fanca Fanconi anemia, complementation group A ISO ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 ClinVar PMID:28492532 NCBI chr 8:123,993,033...124,045,390
Ensembl chr 8:123,995,039...124,045,315 		JBrowse link
G Gli1 GLI-Kruppel family member GLI1 ISO ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:28492532 NCBI chr10:127,165,751...127,177,448
Ensembl chr10:127,165,751...127,177,843 		JBrowse link
G Inhbc inhibin beta-C ISO ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:28492532 NCBI chr10:127,192,191...127,206,417
Ensembl chr10:127,192,191...127,206,300 		JBrowse link
G Inhbe inhibin beta-E ISO ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:28492532 NCBI chr10:127,185,271...127,187,717
Ensembl chr10:127,184,726...127,190,280 		JBrowse link
G Kif5a kinesin family member 5A ISO ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:28492532 NCBI chr10:127,061,564...127,102,217
Ensembl chr10:127,061,565...127,099,217 		JBrowse link
G Klc1 kinesin light chain 1 ISO ClinVar Annotator: match by term: Cutaneous malignant melanoma 6 ClinVar PMID:11059748 PMID:25741868 PMID:28492532 NCBI chr12:111,724,869...111,774,278
Ensembl chr12:111,725,283...111,774,278 		JBrowse link
G LOC110806267 Tert 5' regulatory region ISO 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 PMID:20871597 PMID:22037553 PMID:23066086 PMID:23348503 PMID:23535731 More... NCBI chr13:73,770,663...73,775,510 JBrowse link
G Lrp1 low density lipoprotein receptor-related protein 1 ISO ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:28492532 NCBI chr10:127,374,026...127,457,158
Ensembl chr10:127,374,030...127,457,017 		JBrowse link
G Marchf9 membrane associated ring-CH-type finger 9 ISO ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:28492532 NCBI chr10:126,891,919...126,896,053
Ensembl chr10:126,890,880...126,896,053 		JBrowse link
G Mars1 methionine-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:28492532 NCBI chr10:127,132,090...127,147,655
Ensembl chr10:127,132,090...127,147,655 		JBrowse link
G Mbd6 methyl-CpG binding domain protein 6 ISO ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:28492532 NCBI chr10:127,117,825...127,126,738
Ensembl chr10:127,117,825...127,124,887 		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, 5
ClinVar Annotator: match by term: Cutaneous malignant melanoma 5 | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 2 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5		 OMIM
ClinVar		 PMID:7581459 PMID:8605020 PMID:8894704 PMID:8944016 PMID:8990005 More... NCBI chr 8:124,133,839...124,137,483
Ensembl chr 8:124,133,846...124,137,483 		JBrowse link
G Mettl1 methyltransferase 1, tRNA methylguanosine ISO ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:28492532 NCBI chr10:126,877,287...126,882,234
Ensembl chr10:126,877,283...126,882,234 		JBrowse link
G Mitf melanogenesis associated transcription factor susceptibility 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, 8
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
OMIM		 PMID:2440678 PMID:8589691 PMID:8659547 PMID:9536098 PMID:10587587 More... NCBI chr 6:97,783,966...97,998,321
Ensembl chr 6:97,784,013...97,998,310 		JBrowse link
G Ndufa4l2 Ndufa4, mitochondrial complex associated like 2 ISO ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:28492532 NCBI chr10:127,345,143...127,353,023
Ensembl chr10:127,350,836...127,353,023 		JBrowse link
G Nxph4 neurexophilin 4 ISO ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:28492532 NCBI chr10:127,361,342...127,370,428
Ensembl chr10:127,361,342...127,370,428 		JBrowse link
G Os9 amplified in osteosarcoma ISO ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:28492532 NCBI chr10:126,928,880...126,957,029
Ensembl chr10:126,931,519...126,957,000 		JBrowse link
G Pip4k2c phosphatidylinositol-5-phosphate 4-kinase, type II, gamma ISO ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:28492532 NCBI chr10:127,032,936...127,047,508
Ensembl chr10:127,032,936...127,047,454 		JBrowse link
G Pot1a protection of telomeres 1A ISO ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5
ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: MELANOMA 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, 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
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 2 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 6
ClinVar Annotator: match by term: Cutaneous malignant melanoma 5 | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5		 ClinVar
OMIM
CTD		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:19461895 PMID:19763152 More... NCBI chr 6:25,743,939...25,809,280
Ensembl chr 6:25,743,736...25,809,245 		JBrowse link
G R3hdm2 R3H domain containing 2 ISO ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:28492532 NCBI chr10:127,216,201...127,335,253
Ensembl chr10:127,216,196...127,335,253 		JBrowse link
G Shmt2 serine hydroxymethyltransferase 2 (mitochondrial) ISO ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:28492532 NCBI chr10:127,352,992...127,358,313
Ensembl chr10:127,352,992...127,358,313 		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 chr 8:124,059,452...124,096,257
Ensembl chr 8:124,059,452...124,096,254 		JBrowse link
G Stac3 SH3 and cysteine rich domain 3 ISO ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:28492532 NCBI chr10:127,337,505...127,344,692
Ensembl chr10:127,337,555...127,344,692 		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
OMIM		 PMID:9536098 PMID:9887330 PMID:10201537 PMID:10208439 PMID:10676634 More... NCBI chr10:79,951,602...79,966,513
Ensembl chr10:79,951,637...79,966,516 		JBrowse link
G Tcf25 transcription factor 25 (basic helix-loop-helix) ISO ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 ClinVar PMID:28492532 NCBI chr 8:124,097,511...124,130,913
Ensembl chr 8:124,100,492...124,130,574 		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: 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:20871597 PMID:21436073 PMID:22037553 PMID:23066086 PMID:23348503 More... NCBI chr13:73,775,030...73,797,962
Ensembl chr13:73,775,030...73,797,962 		JBrowse link
G Trp53 transformation related protein 53 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 chr11:69,471,174...69,482,699
Ensembl chr11:69,471,185...69,482,699 		JBrowse link
G Tsfm Ts translation elongation factor, mitochondrial ISO ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:28492532 NCBI chr10:126,858,201...126,866,683
Ensembl chr10:126,847,441...126,866,709 		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 chr10:126,903,156...126,906,977
Ensembl chr10:126,903,149...126,906,133 		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 7:87,073,979...87,142,637
Ensembl chr 7:87,073,979...87,142,720 		JBrowse link
G Xrcc3 X-ray repair complementing defective repair in Chinese hamster cells 3 ISO ClinVar Annotator: match by term: Cutaneous malignant melanoma 6 ClinVar
OMIM		 PMID:11059748 PMID:25741868 PMID:28492532 NCBI chr12:111,769,626...111,780,326
Ensembl chr12:111,769,626...111,780,307 		JBrowse link
Fanconi-like syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slx1b SLX1 structure-specific endonuclease subunit homolog B (S. cerevisiae) IAGP OMIM:227850 MouseDO NCBI chr 7:126,288,099...126,294,955
Ensembl chr 7:126,288,640...126,294,956 		JBrowse link
G Slx4 SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae) IAGP OMIM:227850 MouseDO NCBI chr16:3,796,969...3,821,708
Ensembl chr16:3,796,969...3,821,634 		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 I 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 4:47,353,258...47,414,926
Ensembl chr 4:47,353,222...47,414,931 		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 chr 1:128,515,936...128,520,036
Ensembl chr 1:128,515,936...128,520,030 		JBrowse link
G Dll4 delta like canonical Notch ligand 4 ISO mRNA,protein:increased expression:temporal lobe : RGD PMID:27388534 RGD:155641257 NCBI chr 2:119,156,286...119,166,145
Ensembl chr 2:119,156,265...119,166,443 		JBrowse link
G Hey1 hairy/enhancer-of-split related with YRPW motif 1 ISO mRNA,protein:increased expression:temporal lobe : RGD PMID:27388534 RGD:155641257 NCBI chr 3:8,728,419...8,732,098
Ensembl chr 3:8,728,419...8,732,316 		JBrowse link
G Hif1a hypoxia inducible factor 1, alpha subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:15341671 NCBI chr12:73,948,186...73,994,304
Ensembl chr12:73,948,149...73,994,304 		JBrowse link
G Ndrg1 N-myc downstream regulated gene 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15341671 NCBI chr15:66,801,167...66,841,490
Ensembl chr15:66,801,167...66,841,489 		JBrowse link
G Notch4 notch 4 ISO mRNA,protein:increased expression:temporal lobe : RGD PMID:27388534 RGD:155641257 NCBI chr17:34,783,257...34,807,517
Ensembl chr17:34,783,242...34,807,477 		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 choroideremia-like ISO ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer ClinVar PMID:29909963 NCBI chr 1:175,509,803...175,520,198
Ensembl chr 1:175,509,803...175,520,467 		JBrowse link
G Chrm3 cholinergic receptor, muscarinic 3, cardiac ISO ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer ClinVar PMID:29909963 NCBI chr13:9,925,522...10,411,131
Ensembl chr13:9,925,522...10,410,883 		JBrowse link
G Exo1 exonuclease 1 ISO ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer ClinVar PMID:29909963 NCBI chr 1:175,708,334...175,738,962
Ensembl chr 1:175,708,147...175,741,055 		JBrowse link
G Fh1 fumarate hydratase 1 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		 OMIM
CTD
ClinVar
RGD		 PMID:2314594 PMID:8200987 PMID:9300800 PMID:9536098 PMID:9635293 More... RGD:1598939 NCBI chr 1:175,428,944...175,453,201
Ensembl chr 1:175,427,940...175,453,201 		JBrowse link
G Fmn2 formin 2 ISO ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer ClinVar PMID:29909963 NCBI chr 1:174,324,079...174,650,295
Ensembl chr 1:174,329,391...174,650,295 		JBrowse link
G Grem2 gremlin 2, DAN family BMP antagonist ISO ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer ClinVar PMID:29909963 NCBI chr 1:174,661,352...174,749,386
Ensembl chr 1:174,661,351...174,749,385 		JBrowse link
G Kmo kynurenine 3-monooxygenase ISO ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer ClinVar PMID:29909963 NCBI chr 1:175,459,759...175,488,419
Ensembl chr 1:175,447,947...175,489,682 		JBrowse link
G Opn3 opsin 3 ISO ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer ClinVar PMID:29909963 NCBI chr 1:175,489,993...175,520,198
Ensembl chr 1:175,489,987...175,520,342 		JBrowse link
G Pld5 phospholipase D family member 5 ISO ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer ClinVar PMID:29909963 NCBI chr 1:175,789,867...176,109,078
Ensembl chr 1:175,789,872...176,102,878 		JBrowse link
G Rgs7 regulator of G protein signaling 7 ISO ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer ClinVar PMID:29909963 NCBI chr 1:174,886,642...175,320,287
Ensembl chr 1:174,886,653...175,320,066 		JBrowse link
G Ryr2 ryanodine receptor 2, cardiac ISO ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer ClinVar PMID:29909963 NCBI chr13:11,567,985...12,121,831
Ensembl chr13:11,567,988...12,121,831 		JBrowse link
G Wdr64 WD repeat domain 64 ISO ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer ClinVar PMID:29909963 NCBI chr 1:175,526,135...175,643,300
Ensembl chr 1:175,526,159...175,643,300 		JBrowse link
Infantile Capillary Hemangioma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Antxr1 anthrax toxin receptor 1 susceptibility 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 6:87,110,835...87,312,757
Ensembl chr 6:87,110,835...87,312,803 		JBrowse link
G Ccnh cyclin H ISO ClinVar Annotator: match by term: Capillary infantile hemangioma ClinVar PMID:25741868 NCBI chr13:85,337,504...85,361,850
Ensembl chr13:85,337,527...85,371,588 		JBrowse link
G Fat4 FAT atypical cadherin 4 ISO ClinVar Annotator: match by term: Capillary infantile hemangioma ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:38,939,867...39,066,134
Ensembl chr 3:38,941,089...39,066,134 		JBrowse link
G Flt4 FMS-like tyrosine kinase 4 ISO ClinVar Annotator: match by term: Capillary infantile hemangioma
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:11807987 PMID:25741868 PMID:28492532 NCBI chr11:49,500,506...49,543,566
Ensembl chr11:49,500,090...49,543,566 		JBrowse link
G Kdr kinase insert domain protein receptor susceptibility ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Capillary infantile hemangioma		 CTD
ClinVar
OMIM		 PMID:11807987 PMID:18931684 PMID:24033266 PMID:24728327 PMID:25741868 NCBI chr 5:76,093,487...76,139,880
Ensembl chr 5:76,093,487...76,139,118 		JBrowse link
G Myh9 myosin, heavy polypeptide 9, non-muscle ISO ClinVar Annotator: match by term: Capillary infantile hemangioma ClinVar PMID:28492532 NCBI chr15:77,644,788...77,726,315
Ensembl chr15:77,644,787...77,726,375 		JBrowse link
G Rasa1 RAS p21 protein activator 1 ISO ClinVar Annotator: match by term: Capillary infantile hemangioma ClinVar PMID:25741868 NCBI chr13:85,362,893...85,437,487
Ensembl chr13:85,362,899...85,437,249 		JBrowse link
G Slc2a1 solute carrier family 2 (facilitated glucose transporter), member 1 ISO RGD PMID:17554865 RGD:12879502 NCBI chr 4:118,966,001...118,994,527
Ensembl chr 4:118,965,908...118,995,180 		JBrowse link
G Vegfa vascular endothelial growth factor A disease_progression ISO RGD PMID:26957058 RGD:155663370 NCBI chr17:46,327,919...46,343,303
Ensembl chr17:46,327,919...46,343,295 		JBrowse link
keratoacanthoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Notch1 notch 1 ISO ClinVar Annotator: match by term: Keratoacanthoma ClinVar PMID:27283355 NCBI chr 2:26,347,914...26,393,834
Ensembl chr 2:26,347,915...26,406,675 		JBrowse link
G Notch2 notch 2 ISO ClinVar Annotator: match by term: Keratoacanthoma ClinVar PMID:27283355 NCBI chr 3:97,920,854...98,057,683
Ensembl chr 3:97,920,843...98,057,677 		JBrowse link
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha ISO ClinVar Annotator: match by term: Keratoacanthoma ClinVar PMID:22949682 PMID:23246288 PMID:25741868 PMID:26619011 PMID:27283355 More... NCBI chr 3:32,451,203...32,520,256
Ensembl chr 3:32,451,820...32,522,635 		JBrowse link
large congenital melanocytic nevus term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hras Harvey rat sarcoma virus oncogene 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:16170316 PMID:16329078 PMID:16372351 PMID:16443854 PMID:16835863 More... NCBI chr 7:140,770,839...140,773,938
Ensembl chr 7:140,769,018...140,773,918 		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:16170316 PMID:16329078 PMID:16372351 PMID:16443854 PMID:16835863 More... NCBI chr 7:140,774,024...140,789,968
Ensembl chr 7:140,774,070...140,789,968 		JBrowse link
G Nras neuroblastoma ras oncogene ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Congenital giant melanocytic nevus | ClinVar Annotator: match by term: MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC		 OMIM
CTD
ClinVar		 PMID:1654209 PMID:2278970 PMID:2674680 PMID:3102434 PMID:3122217 More... NCBI chr 3:102,965,643...102,975,230
Ensembl chr 3:102,965,601...102,975,230 		JBrowse link
leiomyoma cutis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fh1 fumarate hydratase 1 ISO ClinVar Annotator: match by term: Multiple cutaneous leiomyomas ClinVar PMID:11865300 PMID:12761039 PMID:12772087 PMID:16237213 PMID:16575891 More... NCBI chr 1:175,428,944...175,453,201
Ensembl chr 1:175,427,940...175,453,201 		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 chr 8:89,056,522...89,089,249
Ensembl chr 8:89,057,667...89,088,822 		JBrowse link
Merkel cell carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cd68 CD68 antigen ISO protein:increased expression:tumor (human) RGD PMID:22050913 RGD:40925916 NCBI chr11:69,555,039...69,556,996
Ensembl chr11:69,555,039...69,556,979 		JBrowse link
G Fgfr3 fibroblast growth factor receptor 3 ISO mRNA:decreased expression:skin (human) RGD PMID:28359267 RGD:38500206 NCBI chr 5:33,879,068...33,894,412
Ensembl chr 5:33,879,018...33,894,412 		JBrowse link
G Myc myelocytomatosis oncogene ISO CTD Direct Evidence: marker/mechanism CTD PMID:25277525 NCBI chr15:61,857,190...61,862,210
Ensembl chr15:61,857,240...61,862,223 		JBrowse link
G Spa17 sperm autoantigenic protein 17 ISO mRNA,protein:increased expression:nucleus RGD PMID:31218705 RGD:27226803 NCBI chr 9:37,514,590...37,525,018
Ensembl chr 9:37,514,586...37,525,018 		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 gene IAGP OMIM:158320 MouseDO NCBI chr14:11,307,718...12,919,681
Ensembl chr14:11,307,738...12,919,681 		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:8571956 More... NCBI chr 9:111,057,296...111,100,854
Ensembl chr 9:111,057,296...111,100,859 		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 chr17:87,979,960...88,031,141
Ensembl chr17:87,979,758...88,031,141 		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 chr13:85,337,504...85,361,850
Ensembl chr13:85,337,527...85,371,588 		JBrowse link
G Ptch1 patched 1 ISO ClinVar Annotator: match by term: Basal cell carcinoma, multiple ClinVar PMID:22703879 PMID:24728327 PMID:25741868 PMID:26467025 PMID:28492532 More... NCBI chr13:63,656,142...63,721,274
Ensembl chr13:63,656,142...63,721,412 		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 chr13:85,362,893...85,437,487
Ensembl chr13:85,362,899...85,437,249 		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 6:29,735,480...29,761,359
Ensembl chr 6:29,735,502...29,761,364 		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 susceptibility ISO ClinVar Annotator: match by term: Palmoplantar carcinoma, multiple self-healing
CTD Direct Evidence: marker/mechanism		 ClinVar
OMIM
CTD		 PMID:17377159 PMID:23349227 PMID:24033266 PMID:25050600 PMID:25741868 More... NCBI chr11:70,982,023...71,035,780
Ensembl chr11:70,983,062...71,035,530 		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 7:110,367,291...110,411,612
Ensembl chr 7:110,367,413...110,411,612 		JBrowse link
G Arhgef2 Rho/Rac guanine nucleotide exchange factor 2 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 3:88,500,427...88,556,839
Ensembl chr 3:88,513,273...88,555,359 		JBrowse link
G Arhgef40 Rho guanine nucleotide exchange factor 40 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr14:52,222,158...52,243,704
Ensembl chr14:52,222,176...52,243,708 		JBrowse link
G Arih2 ariadne RBR E3 ubiquitin protein ligase 2 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 9:108,480,141...108,531,917
Ensembl chr 9:108,480,141...108,526,585 		JBrowse link
G Braf Braf transforming gene ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar PMID:15016963 PMID:15753399 PMID:19404918 PMID:21750866 PMID:24033266 More... NCBI chr 6:39,580,171...39,702,592
Ensembl chr 6:39,580,171...39,702,397 		JBrowse link
G Ccdc28a coiled-coil domain containing 28A ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr10:18,089,424...18,110,940
Ensembl chr10:18,089,424...18,110,746 		JBrowse link
G Cdca2 cell division cycle associated 2 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr14:67,910,629...67,953,290
Ensembl chr14:67,913,780...67,953,290 		JBrowse link
G Cdcp1 CUB domain containing protein 1 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 9:122,999,870...123,045,175
Ensembl chr 9:122,999,889...123,045,103 		JBrowse link
G Celf4 CUGBP, Elav-like family member 4 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr18:25,610,677...25,887,577
Ensembl chr18:25,610,689...25,887,214 		JBrowse link
G Clic6 chloride intracellular channel 6 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr16:92,295,035...92,338,129
Ensembl chr16:92,282,624...92,338,131 		JBrowse link
G Clspn claspin ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 4:126,450,738...126,488,326
Ensembl chr 4:126,450,728...126,487,696 		JBrowse link
G Col4a2 collagen, type IV, alpha 2 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 8:11,362,878...11,499,287
Ensembl chr 8:11,362,805...11,499,287 		JBrowse link
G Coro2a coronin, actin binding protein 2A ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 4:46,536,937...46,601,929
Ensembl chr 4:46,536,937...46,602,202 		JBrowse link
G Dapk1 death associated protein kinase 1 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr13:60,749,506...60,911,005
Ensembl chr13:60,749,761...60,911,005 		JBrowse link
G Dchs1 dachsous cadherin related 1 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar PMID:28492532 PMID:32381727 NCBI chr 7:105,402,196...105,437,562
Ensembl chr 7:105,402,197...105,436,861 		JBrowse link
G Dyrk1b dual-specificity tyrosine phosphorylation regulated kinase 1b ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 7:27,878,880...27,896,896
Ensembl chr 7:27,878,894...27,886,719 		JBrowse link
G Ehbp1 EH domain binding protein 1 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr11:21,955,825...22,237,086
Ensembl chr11:21,955,828...22,292,292 		JBrowse link
G Elovl5 ELOVL fatty acid elongase 5 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 9:77,824,647...77,891,801
Ensembl chr 9:77,824,646...77,891,801 		JBrowse link
G Ephb6 Eph receptor B6 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 6:41,581,940...41,597,445
Ensembl chr 6:41,582,416...41,597,443 		JBrowse link
G Eppk1 epiplakin 1 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr15:75,973,337...76,004,395
Ensembl chr15:75,973,330...76,004,395 		JBrowse link
G Etv5 ets variant 5 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr16:22,200,063...22,258,320
Ensembl chr16:22,200,059...22,258,469 		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 chr10:22,978,861...23,226,785
Ensembl chr10:22,978,862...23,226,684 		JBrowse link
G Fam168b family with sequence similarity 168, member B ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 1:34,852,307...34,882,094
Ensembl chr 1:34,852,300...34,882,146 		JBrowse link
G Fras1 Fraser extracellular matrix complex subunit 1 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 5:96,518,622...96,932,592
Ensembl chr 5:96,521,814...96,932,587 		JBrowse link
G Ftcd formiminotransferase cyclodeaminase ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar PMID:28492532 NCBI chr10:76,411,482...76,426,172
Ensembl chr10:76,411,482...76,426,172 		JBrowse link
G Gabrb3 GABRB3, gamma-aminobutyric acid type A receptor subunit beta 3 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 7:57,240,266...57,478,550
Ensembl chr 7:57,069,440...57,478,550 		JBrowse link
G Gm21992 predicted gene 21992 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr19:4,792,941...4,861,662
Ensembl chr19:4,792,941...4,861,640 		JBrowse link
G Grin3a glutamate receptor ionotropic, NMDA3A ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 4:49,661,611...49,846,023
Ensembl chr 4:49,661,611...49,845,744 		JBrowse link
G Gtdc1 glycosyltransferase-like domain containing 1 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 2:44,454,420...44,817,761
Ensembl chr 2:44,454,424...44,817,669 		JBrowse link
G Has1 hyaluronan synthase 1 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr17:18,063,588...18,075,450
Ensembl chr17:18,063,585...18,075,467 		JBrowse link
G Hivep1 human immunodeficiency virus type I enhancer binding protein 1 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr13:42,205,304...42,338,504
Ensembl chr13:42,205,497...42,346,013 		JBrowse link
G Hrh2 histamine receptor H2 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr13:54,345,990...54,390,201
Ensembl chr13:54,346,148...54,390,199 		JBrowse link
G Ift140 intraflagellar transport 140 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr17:25,235,056...25,318,461
Ensembl chr17:25,235,059...25,318,469 		JBrowse link
G Igf2r insulin-like growth factor 2 receptor ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr17:12,901,293...12,988,593
Ensembl chr17:12,901,293...12,988,551 		JBrowse link
G Igsf3 immunoglobulin superfamily, member 3 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 3:101,284,306...101,370,375
Ensembl chr 3:101,284,399...101,370,375 		JBrowse link
G Ints3 integrator complex subunit 3 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 3:90,298,691...90,340,800
Ensembl chr 3:90,298,695...90,340,929 		JBrowse link
G Itgal integrin alpha L ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 7:126,895,404...126,934,309
Ensembl chr 7:126,895,432...126,934,310 		JBrowse link
G Itgb4 integrin beta 4 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr11:115,865,556...115,899,238
Ensembl chr11:115,865,535...115,899,238 		JBrowse link
G Kcnj10 potassium inwardly-rectifying channel, subfamily J, member 10 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 1:172,168,777...172,201,652
Ensembl chr 1:172,168,777...172,201,652 		JBrowse link
G Krtap10-22 keratin associated protein 10-22 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr10:77,606,467...77,607,159
Ensembl chr10:77,606,467...77,607,159 		JBrowse link
G Larp4b La ribonucleoprotein 4B ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr13:9,143,643...9,224,487
Ensembl chr13:9,143,917...9,224,487 		JBrowse link
G Lats1 large tumor suppressor ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr10:7,556,964...7,592,225
Ensembl chr10:7,556,978...7,592,224 		JBrowse link
G Leng9 leukocyte receptor cluster (LRC) member 9 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 7:4,151,182...4,152,871
Ensembl chr 7:4,150,914...4,153,373 		JBrowse link
G Lingo3 leucine rich repeat and Ig domain containing 3 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr10:80,668,635...80,679,873
Ensembl chr10:80,668,635...80,679,873 		JBrowse link
G Lrp10 low-density lipoprotein receptor-related protein 10 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr14:54,701,260...54,707,749
Ensembl chr14:54,701,594...54,708,954 		JBrowse link
G Lrrfip1 leucine rich repeat (in FLII) interacting protein 1 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 1:90,924,652...91,056,666
Ensembl chr 1:90,926,459...91,056,666 		JBrowse link
G Man2b1 mannosidase 2, alpha B1 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 8:85,809,941...85,824,215
Ensembl chr 8:85,809,899...85,824,911 		JBrowse link
G Mfhas1 malignant fibrous histiocytoma amplified sequence 1 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 8:36,054,922...36,146,603
Ensembl chr 8:36,054,952...36,146,603 		JBrowse link
G Mlxipl MLX interacting protein-like ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 5:135,118,744...135,168,622
Ensembl chr 5:135,118,744...135,167,236 		JBrowse link
G Mrrf mitochondrial ribosome recycling factor ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 2:36,025,672...36,080,296
Ensembl chr 2:36,026,401...36,080,659 		JBrowse link
G Napsa napsin A aspartic peptidase ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 7:44,221,869...44,236,270
Ensembl chr 7:44,221,804...44,236,286 		JBrowse link
G Nr3c2 nuclear receptor subfamily 3, group C, member 2 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 8:77,626,422...77,971,641
Ensembl chr 8:77,626,070...77,971,641 		JBrowse link
G Numa1 nuclear mitotic apparatus protein 1 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 7:101,583,169...101,664,166
Ensembl chr 7:101,583,318...101,664,171 		JBrowse link
G Oxa1l oxidase assembly 1-like ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr14:54,598,298...54,607,130
Ensembl chr14:54,598,291...54,607,130 		JBrowse link
G Pacsin2 protein kinase C and casein kinase substrate in neurons 2 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr15:83,259,812...83,348,800
Ensembl chr15:83,259,808...83,348,807 		JBrowse link
G Pars2 prolyl-tRNA synthetase (mitochondrial)(putative) ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 4:106,508,266...106,512,479
Ensembl chr 4:106,508,266...106,512,479 		JBrowse link
G Plagl1 pleiomorphic adenoma gene-like 1 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr10:12,966,576...13,007,438
Ensembl chr10:12,936,248...13,007,438 		JBrowse link
G Pole polymerase (DNA directed), epsilon ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 5:110,434,185...110,485,319
Ensembl chr 5:110,434,172...110,485,340 		JBrowse link
G Ptgfr prostaglandin F receptor ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 3:151,504,247...151,543,165
Ensembl chr 3:151,502,139...151,543,267 		JBrowse link
G Ptpn21 protein tyrosine phosphatase, non-receptor type 21 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr12:98,643,000...98,703,664
Ensembl chr12:98,643,000...98,703,664 		JBrowse link
G Rabep2 rabaptin, RAB GTPase binding effector protein 2 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 7:126,027,596...126,045,079
Ensembl chr 7:126,027,931...126,048,417 		JBrowse link
G Rad50 RAD50 double strand break repair protein ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar PMID:28492532 NCBI chr11:53,540,346...53,598,146
Ensembl chr11:53,540,346...53,598,146 		JBrowse link
G Rbm12b1 RNA binding motif protein 12 B1 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 4:12,138,957...12,148,922
Ensembl chr 4:12,140,264...12,146,731 		JBrowse link
G Rbm4 RNA binding motif protein 4 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr19:4,834,321...4,844,037
Ensembl chr19:4,834,321...4,843,929 		JBrowse link
G Recql5 RecQ protein-like 5 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr11:115,783,421...115,824,339
Ensembl chr11:115,783,421...115,824,303 		JBrowse link
G Rpl36 ribosomal protein L36 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr17:56,917,094...56,921,246
Ensembl chr17:56,920,416...56,921,243 		JBrowse link
G Sacs sacsin ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr14:61,375,870...61,478,142
Ensembl chr14:61,375,906...61,478,144 		JBrowse link
G Scnn1g sodium channel, nonvoltage-gated 1 gamma ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 7:121,333,643...121,367,705
Ensembl chr 7:121,333,702...121,367,698 		JBrowse link
G Senp3 SUMO/sentrin specific peptidase 3 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr11:69,563,936...69,572,910
Ensembl chr11:69,563,941...69,572,910 		JBrowse link
G Slc27a5 solute carrier family 27 (fatty acid transporter), member 5 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 7:12,722,273...12,732,119
Ensembl chr 7:12,722,273...12,732,119 		JBrowse link
G Slc7a2 solute carrier family 7 (cationic amino acid transporter, y+ system), member 2 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 8:41,315,404...41,375,107
Ensembl chr 8:41,315,433...41,375,345 		JBrowse link
G Smc1b structural maintenance of chromosomes 1B ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr15:84,948,890...85,016,158
Ensembl chr15:84,948,890...85,016,165 		JBrowse link
G Specc1 sperm antigen with calponin homology and coiled-coil domains 1 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr11:61,847,589...62,113,839
Ensembl chr11:61,847,589...62,113,839 		JBrowse link
G Spen spen family transcription repressor ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 4:141,195,199...141,265,955
Ensembl chr 4:141,195,201...141,265,908 		JBrowse link
G Stil Scl/Tal1 interrupting locus ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 4:114,857,287...114,900,404
Ensembl chr 4:114,857,356...114,900,393 		JBrowse link
G Ston1 stonin 1 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr17:88,905,043...88,955,293
Ensembl chr17:88,905,112...88,970,014 		JBrowse link
G Syt7 synaptotagmin VII ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr19:10,366,142...10,430,545
Ensembl chr19:10,366,454...10,430,544 		JBrowse link
G Tango6 transport and golgi organization 6 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 8:107,409,697...107,581,175
Ensembl chr 8:107,409,700...107,578,071 		JBrowse link
G Tdp1 tyrosyl-DNA phosphodiesterase 1 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr12:99,850,767...99,921,482
Ensembl chr12:99,850,776...99,921,478 		JBrowse link
G Tenm3 teneurin transmembrane protein 3 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 8:48,678,700...51,370,255
Ensembl chr 8:48,680,717...49,296,986 		JBrowse link
G Tex15 testis expressed gene 15 meiosis and synapsis associated ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 8:34,006,712...34,082,531
Ensembl chr 8:34,006,766...34,075,610 		JBrowse link
G Tgfbr1 transforming growth factor, beta receptor I ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 4:47,353,258...47,414,926
Ensembl chr 4:47,353,222...47,414,931 		JBrowse link
G Tln2 talin 2 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 9:67,124,371...67,541,357
Ensembl chr 9:67,124,369...67,466,985 		JBrowse link
G Tmcc3 transmembrane and coiled coil domains 3 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr10:94,147,544...94,426,816
Ensembl chr10:94,147,811...94,426,818 		JBrowse link
G Tmem121 transmembrane protein 121 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr12:113,149,523...113,153,143
Ensembl chr12:113,149,550...113,153,143 		JBrowse link
G Tnks1bp1 tankyrase 1 binding protein 1 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 2:84,878,356...84,903,392
Ensembl chr 2:84,878,366...84,903,392 		JBrowse link
G Trpm4 transient receptor potential cation channel, subfamily M, member 4 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 7:44,952,579...44,983,495
Ensembl chr 7:44,952,056...44,983,204 		JBrowse link
G Trpv4 transient receptor potential cation channel, subfamily V, member 4 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 5:114,760,213...114,796,497
Ensembl chr 5:114,760,213...114,796,482 		JBrowse link
G Try10 trypsin 10 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar PMID:2539344 PMID:6023921 PMID:9322498 PMID:9557894 PMID:9633818 More... NCBI chr 6:41,331,039...41,334,878
Ensembl chr 6:41,331,039...41,334,848 		JBrowse link
G Tsks testis-specific serine kinase substrate ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 7:44,579,044...44,607,465
Ensembl chr 7:44,592,628...44,607,459 		JBrowse link
G Tspear thrombospondin type laminin G domain and EAR repeats ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr10:77,521,942...77,722,844
Ensembl chr10:77,522,403...77,722,855 		JBrowse link
G Vac14 Vac14 homolog (S. cerevisiae) ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 8:111,345,161...111,447,030
Ensembl chr 8:111,345,217...111,447,030 		JBrowse link
G Vipr2 vasoactive intestinal peptide receptor 2 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr12:116,041,040...116,117,842
Ensembl chr12:116,041,346...116,109,881 		JBrowse link
G Ylpm1 YLP motif containing 1 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr12:85,042,977...85,130,501
Ensembl chr12:85,043,095...85,117,289 		JBrowse link
G Zfp668 zinc finger protein 668 ISO ClinVar Annotator: match by term: Myoepithelial tumor ClinVar NCBI chr 7:127,460,197...127,476,008
Ensembl chr 7:127,462,219...127,476,000 		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 1:63,239,517...63,353,735
Ensembl chr 1:63,312,424...63,353,735 		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 chr13:63,112,707...63,473,910
Ensembl chr13:63,112,707...63,473,910 		JBrowse link
G Arl3 ADP-ribosylation factor-like 3 ISO ClinVar Annotator: match by term: Gorlin syndrome ClinVar PMID:12068298 PMID:22508808 PMID:25403219 PMID:28492532 PMID:31639285 NCBI chr19:46,519,548...46,561,621
Ensembl chr19:46,519,535...46,561,637 		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 chr19:46,655,604...46,661,439
Ensembl chr19:46,655,604...46,661,611 		JBrowse link
G Fancc Fanconi anemia, complementation group C ISO ClinVar Annotator: match by term: Gorlin syndrome ClinVar PMID:17703323 PMID:17924555 PMID:22382802 PMID:28492532 NCBI chr13:63,452,519...63,645,126
Ensembl chr13:63,432,857...63,645,092 		JBrowse link
G Gli1 GLI-Kruppel family member GLI1 ISO RGD PMID:15308259 RGD:12801443 NCBI chr10:127,165,751...127,177,448
Ensembl chr10:127,165,751...127,177,843 		JBrowse link
G Gli2 GLI-Kruppel family member GLI2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16936257 NCBI chr 1:118,761,791...118,987,578
Ensembl chr 1:118,761,862...118,981,349 		JBrowse link
G Ptch1 patched 1 ISO
IAGP
IMP		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Basal cell nevus syndrome | ClinVar Annotator: match by term: Fifth Phacomatosis | ClinVar Annotator: match by term: Gorlin syndrome | ClinVar Annotator: match by term: Gorlin-Goltz Syndrome
OMIM:109400
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 chr13:63,656,142...63,721,274
Ensembl chr13:63,656,142...63,721,412 		JBrowse link
G Ptch2 patched 2 ISO ClinVar Annotator: match by term: Fifth Phacomatosis | ClinVar Annotator: match by term: Gorlin syndrome ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:18285427 PMID:23951062 More... NCBI chr 4:116,953,253...116,973,298
Ensembl chr 4:116,953,272...116,973,298 		JBrowse link
G Pth parathyroid hormone ISO CTD Direct Evidence: marker/mechanism CTD PMID:24803734 NCBI chr 7:112,984,783...112,987,879
Ensembl chr 7:112,984,787...112,987,777 		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 chr19:46,561,798...46,585,340
Ensembl chr19:46,561,804...46,586,505 		JBrowse link
G Shh sonic hedgehog IMP RGD PMID:9115210 RGD:12802345 NCBI chr 5:28,661,838...28,672,099
Ensembl chr 5:28,661,813...28,672,254 		JBrowse link
G Smo smoothened, frizzled class receptor ISO RGD PMID:15308259 RGD:12801443 NCBI chr 6:29,735,480...29,761,359
Ensembl chr 6:29,735,502...29,761,364 		JBrowse link
G Sufu SUFU negative regulator of hedgehog signaling IAGP
ISO		 OMIM:109400
ClinVar Annotator: match by term: Basal cell nevus 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 chr19:46,385,335...46,477,243
Ensembl chr19:46,385,335...46,477,243 		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 chr19:46,490,087...46,504,894
Ensembl chr19:46,490,141...46,505,287 		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 chr19:46,587,545...46,645,828
Ensembl chr19:46,587,523...46,645,828 		JBrowse link
nevoid basal cell carcinoma syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ptch1 patched 1 ISO ClinVar Annotator: match by term: Basal cell nevus syndrome 1 OMIM
ClinVar		 PMID:20301330 PMID:25741868 NCBI chr13:63,656,142...63,721,274
Ensembl chr13:63,656,142...63,721,412 		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 chr19:46,385,335...46,477,243
Ensembl chr19:46,385,335...46,477,243 		JBrowse link
Palmoplantar Hyperkeratosis with Squamous Cell Carcinoma of Skin and Sex Reversal term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rspo1 R-spondin 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and 46,XX sex reversal		 OMIM
CTD
ClinVar		 PMID:16158431 PMID:17041600 PMID:25741868 PMID:28492532 NCBI chr 4:124,880,197...124,902,895
Ensembl chr 4:124,880,223...124,902,892 		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:9065403 PMID:9294210 PMID:9927029 PMID:10027390 More... NCBI chr 9:120,762,466...120,789,573
Ensembl chr 9:120,758,282...120,789,573 		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:11801590 PMID:11818965 PMID:12606733 PMID:12917422 More... NCBI chr 4:116,664,846...116,676,641
Ensembl chr 4:116,664,920...116,676,637 		JBrowse link
G Ovol1 ovo like zinc finger 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26873447 NCBI chr19:5,599,165...5,610,603
Ensembl chr19:5,599,164...5,610,674 		JBrowse link
G Ovol2 ovo like zinc finger 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26873447 NCBI chr 2:144,147,095...144,174,000
Ensembl chr 2:144,147,095...144,174,066 		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 1:59,802,721...59,917,240
Ensembl chr 1:59,802,559...59,918,173 		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 2:118,219,065...118,305,715
Ensembl chr 2:118,219,099...118,305,715 		JBrowse link
Schopf-Schulz-Passarge syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wnt10a wingless-type MMTV integration site 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 1:74,831,178...74,843,335
Ensembl chr 1:74,830,675...74,843,338 		JBrowse link
Sclerotylosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Smarcad1 SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Keratoderma with scleroatrophy of the extremities		 OMIM
CTD
ClinVar		 PMID:4298032 PMID:8731679 PMID:10631162 PMID:24909267 PMID:25741868 More... NCBI chr 6:65,019,577...65,093,045
Ensembl chr 6:65,019,567...65,093,045 		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 chr17:29,309,953...29,319,696
Ensembl chr17:29,309,950...29,319,701 		JBrowse link
G Lef1 lymphoid enhancer binding factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16565724 NCBI chr 3:130,903,972...131,018,006
Ensembl chr 3:130,904,120...131,018,005 		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 chr19:20,350,798...20,368,035
Ensembl chr19:20,350,792...20,368,308 		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 chr 5:33,879,068...33,894,412
Ensembl chr 5:33,879,018...33,894,412 		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:15254419 PMID:15520168 PMID:15608678 PMID:15647370 More... NCBI chr 3:32,451,203...32,520,256
Ensembl chr 3:32,451,820...32,522,635 		JBrowse link
skin benign neoplasm term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hras Harvey rat sarcoma virus oncogene ISO associated with Nevus, Sebaceous of Jadassohn;DNA:mutation:cds:c.37G>C(p.G13R)(human) RGD PMID:22683711 RGD:11098548 NCBI chr 7:140,770,839...140,773,938
Ensembl chr 7:140,769,018...140,773,918 		JBrowse link
skin cancer term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Anxa7 annexin A7 ISO protein:decreased expression:skin RGD PMID:17708571 RGD:2292654 NCBI chr14:20,505,344...20,530,009
Ensembl chr14:20,505,328...20,530,201 		JBrowse link
G Chuk conserved helix-loop-helix ubiquitous kinase IMP RGD PMID:21755017 RGD:13504775 NCBI chr19:44,061,773...44,095,940
Ensembl chr19:44,061,774...44,095,919 		JBrowse link
G Crkl v-crk avian sarcoma virus CT10 oncogene homolog-like ISO RGD PMID:16391854 RGD:7488899 NCBI chr16:17,269,849...17,305,304
Ensembl chr16:17,269,851...17,305,298 		JBrowse link
G Pml promyelocytic leukemia severity ISO human gene in a mouse model RGD PMID:19058256 RGD:41404688 NCBI chr 9:58,125,359...58,157,077
Ensembl chr 9:58,125,359...58,157,069 		JBrowse link
G Srsf6 serine and arginine-rich splicing factor 6 ISO protein:increased expression:skin (human) RGD PMID:24440982 RGD:11039481 NCBI chr 2:162,773,428...162,779,041
Ensembl chr 2:162,773,448...162,779,041 		JBrowse link
skin hemangioma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gja4 gap junction protein, alpha 4 ISO ClinVar Annotator: match by term: Skin hemangioma ClinVar PMID:33912852 NCBI chr 4:127,205,213...127,207,832
Ensembl chr 4:127,205,214...127,207,832 		JBrowse link
skin melanoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aff4 AF4/FMR2 family, member 4 disease_progression ISO RGD PMID:33417923 RGD:155631266 NCBI chr11:53,240,807...53,312,657
Ensembl chr11:53,241,660...53,312,657 		JBrowse link
G Agt angiotensinogen ISO protein:increased expression:serum RGD PMID:19394758 RGD:8548874 NCBI chr 8:125,283,326...125,296,445
Ensembl chr 8:125,283,273...125,296,445 		JBrowse link
G Akt1 thymoma viral proto-oncogene 1 ISO ClinVar Annotator: match by term: Cutaneous melanoma ClinVar PMID:17611497 PMID:18256540 PMID:18392055 PMID:18504432 PMID:18611285 More... NCBI chr12:112,620,260...112,641,266
Ensembl chr12:112,620,255...112,641,318 		JBrowse link
G Araf Araf proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: Malignant melanoma of skin ClinVar PMID:24569458 PMID:26619011 NCBI chr  X:20,663,946...20,726,760
Ensembl chr  X:20,664,053...20,726,758 		JBrowse link
G Arhgap44 Rho GTPase activating protein 44 severity ISO DNA:SNP:intron: (rs72635537) (human) RGD PMID:28510328 RGD:401901274 NCBI chr11:64,892,865...65,053,779
Ensembl chr11:64,892,865...65,053,787 		JBrowse link
G B2m beta-2 microglobulin ISO ClinVar Annotator: match by term: Cutaneous melanoma ClinVar PMID:26619011 NCBI chr 2:121,978,168...121,983,563
Ensembl chr 2:121,978,167...121,983,564 		JBrowse link
G Bcl2l12 BCL2 like 12 ISO ClinVar Annotator: match by term: Cutaneous melanoma ClinVar PMID:26619011 NCBI chr 7:44,640,646...44,647,011
Ensembl chr 7:44,640,646...44,648,136 		JBrowse link
G Birc2 baculoviral IAP repeat-containing 2 exacerbates ISO mRNA:increased expression:zone of skin (human) RGD PMID:31964418 RGD:153344516 NCBI chr 9:7,818,227...7,837,123
Ensembl chr 9:7,818,228...7,837,065 		JBrowse link
G Braf Braf transforming gene ISO ClinVar Annotator: match by term: Cutaneous melanoma | ClinVar Annotator: match by term: DYSPLASTIC NEVUS SYNDROME, HEREDITARY | ClinVar Annotator: match by term: Malignant melanoma of skin ClinVar PMID:2493360 PMID:2500657 PMID:12068308 PMID:12198537 PMID:12447372 More... NCBI chr 6:39,580,171...39,702,592
Ensembl chr 6:39,580,171...39,702,397 		JBrowse link
G Brca2 breast cancer 2, early onset disease_progression ISO DNA:SNP: :rs206118, rs3752447, rs10492396 (human) RGD PMID:25243787 RGD:11344896 NCBI chr 5:150,445,759...150,493,612
Ensembl chr 5:150,446,095...150,493,794 		JBrowse link
G Ccl2 C-C motif chemokine ligand 2 disease_progression ISO DNA:SNP: :2578A>G (human) RGD PMID:17169533 RGD:9491398 NCBI chr11:81,926,403...81,928,278
Ensembl chr11:81,926,397...81,928,279 		JBrowse link
G Cd40 CD40 antigen disease_progression ISO RGD PMID:8952530 RGD:8547772 NCBI chr 2:164,897,535...164,913,574
Ensembl chr 2:164,897,547...164,914,868 		JBrowse link
G Cdk4 cyclin dependent kinase 4 ISO ClinVar Annotator: match by term: Malignant melanoma of skin ClinVar PMID:5377176 PMID:7652577 PMID:8528263 PMID:8968104 PMID:9228064 More... NCBI chr10:126,899,404...126,903,157
Ensembl chr10:126,899,403...126,903,789 		JBrowse link
G Cdkn2a cyclin dependent kinase inhibitor 2A ISO DNA:frameshift mutations, deletions:cds:multiple (human)
ClinVar Annotator: match by term: Cutaneous melanoma
ClinVar Annotator: match by term: Cutaneous melanoma | ClinVar Annotator: match by term: Malignant melanoma of skin
DNA:missense mutation:exon:p.P48L (human)		 ClinVar
RGD		 PMID:7777060 PMID:7777061 PMID:7780957 PMID:8521414 PMID:8573142 More... RGD:8552276, RGD:8552302 NCBI chr 4:89,192,710...89,212,856
Ensembl chr 4:89,192,708...89,212,890 		JBrowse link
G Chaf1b chromatin assembly factor 1, subunit B severity ISO protein:increased expression:skin: RGD PMID:20178651 RGD:9587476 NCBI chr16:93,680,801...93,703,003
Ensembl chr16:93,680,789...93,703,003 		JBrowse link
G Cnot9 CCR4-NOT transcription complex, subunit 9 ISO ClinVar Annotator: match by term: Malignant melanoma of skin ClinVar PMID:25741868 PMID:26619011 NCBI chr 1:74,545,192...74,570,001
Ensembl chr 1:74,545,217...74,570,001 		JBrowse link
G Crebbp CREB binding protein ISO ClinVar Annotator: match by term: Cutaneous melanoma ClinVar PMID:21390126 PMID:21680795 PMID:21796119 PMID:22832583 PMID:23334668 More... NCBI chr16:3,899,198...4,031,864
Ensembl chr16:3,899,192...4,031,861 		JBrowse link
G Crnkl1 crooked neck pre-mRNA splicing factor 1 ISO ClinVar Annotator: match by term: Cutaneous melanoma ClinVar PMID:26619011 NCBI chr 2:145,759,402...145,776,620
Ensembl chr 2:145,759,399...145,776,934 		JBrowse link
G Ctcf CCCTC-binding factor ISO DNA:mutations:multiple (human) RGD PMID:27974201 RGD:151356739 NCBI chr 8:106,351,135...106,409,554
Ensembl chr 8:106,363,200...106,409,554 		JBrowse link
G Ctnnb1 catenin beta 1 ISO ClinVar Annotator: match by term: Cutaneous melanoma | ClinVar Annotator: match by term: Malignant melanoma of skin ClinVar PMID:9065402 PMID:9065403 PMID:9294210 PMID:9500465 PMID:9927029 More... NCBI chr 9:120,762,466...120,789,573
Ensembl chr 9:120,758,282...120,789,573 		JBrowse link
G Ddr1 discoidin domain receptor family, member 1 severity
treatment		 ISO protein:increased expression:skin lesion (human)
human cells in mouse model; DDR1-IN-1		 RGD PMID:31271515 PMID:31271515 RGD:151347864, RGD:151347864 NCBI chr17:35,992,459...36,015,633
Ensembl chr17:35,992,459...36,015,513 		JBrowse link
G Dnmt3b DNA methyltransferase 3B disease_progression ISO RGD PMID:21081840 RGD:9589074 NCBI chr 2:153,491,332...153,529,650
Ensembl chr 2:153,491,370...153,529,650 		JBrowse link
G Erbb2 erb-b2 receptor tyrosine kinase 2 ISO ClinVar Annotator: match by term: Cutaneous melanoma ClinVar PMID:18413839 PMID:22046346 PMID:23220880 PMID:25157968 PMID:26619011 NCBI chr11:98,303,310...98,328,542
Ensembl chr11:98,303,296...98,328,542 		JBrowse link
G Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit ISO ClinVar Annotator: match by term: Malignant melanoma of skin ClinVar PMID:23023262 PMID:24563539 PMID:26619011 NCBI chr 6:47,507,208...47,613,843
Ensembl chr 6:47,507,073...47,572,275 		JBrowse link
G Fanca Fanconi anemia, complementation group A disease_progression ISO DNA:SNP: :rs62068372 (human) RGD PMID:25243787 RGD:11344896 NCBI chr 8:123,993,033...124,045,390
Ensembl chr 8:123,995,039...124,045,315 		JBrowse link
G Fancd2 Fanconi anemia, complementation group D2 ISO mRNA,protein:increased expression:skin,nucleus: RGD PMID:21697891 RGD:11046262 NCBI chr 6:113,508,622...113,573,981
Ensembl chr 6:113,508,643...113,573,978 		JBrowse link
G Fbxw7 F-box and WD-40 domain protein 7 ISO ClinVar Annotator: match by term: Cutaneous melanoma ClinVar PMID:25741868 PMID:26619011 NCBI chr 3:84,721,901...84,886,505
Ensembl chr 3:84,722,575...84,886,505 		JBrowse link
G Gna11 guanine nucleotide binding protein, alpha 11 ISO ClinVar Annotator: match by term: Malignant melanoma of skin ClinVar PMID:1328859 PMID:2549426 PMID:21083380 PMID:21444680 PMID:22733540 More... NCBI chr10:81,364,558...81,380,996
Ensembl chr10:81,364,558...81,381,024 		JBrowse link
G Gnas GNAS complex locus ISO ClinVar Annotator: match by term: Cutaneous melanoma | ClinVar Annotator: match by term: Malignant melanoma of skin ClinVar PMID:1517386 PMID:1594625 PMID:1944469 PMID:2549426 PMID:3720010 More... NCBI chr 2:174,126,113...174,188,537
Ensembl chr 2:174,126,113...174,188,537 		JBrowse link
G Gpx1 glutathione peroxidase 1 ISO mRNA:increased expression:skin of body (human) RGD PMID:29535818 RGD:152023655 NCBI chr 9:108,216,279...108,217,541
Ensembl chr 9:108,216,102...108,217,542 		JBrowse link
G Gstm1 glutathione S-transferase, mu 1 susceptibility ISO DNA:deletion:: (human) RGD PMID:11352862 RGD:12792221 NCBI chr 3:107,919,566...107,925,289
Ensembl chr 3:107,919,571...107,925,289 		JBrowse link
G Gstt1 glutathione S-transferase, theta 1 susceptibility ISO DNA:deletion:: (human) RGD PMID:11352862 RGD:12792221 NCBI chr10:75,619,647...75,634,418
Ensembl chr10:75,619,647...75,634,418 		JBrowse link
G Hif1a hypoxia inducible factor 1, alpha subunit ISO protein:increased expression:epidermis (human) RGD PMID:19558170 RGD:8695922 NCBI chr12:73,948,186...73,994,304
Ensembl chr12:73,948,149...73,994,304 		JBrowse link
G Hras Harvey rat sarcoma virus oncogene ISO ClinVar Annotator: match by term: Cutaneous melanoma | ClinVar Annotator: match by term: Malignant melanoma of skin ClinVar PMID:1904555 PMID:3510078 PMID:11150980 PMID:12835555 PMID:16155195 More... NCBI chr 7:140,770,839...140,773,938
Ensembl chr 7:140,769,018...140,773,918 		JBrowse link
G Icam1 intercellular adhesion molecule 1 disease_progression ISO DNA:missense mutation:exon:p.R241G (human) RGD PMID:16313300 RGD:8547698 NCBI chr 9:20,927,236...20,940,110
Ensembl chr 9:20,927,281...20,940,113 		JBrowse link
G Idh1 isocitrate dehydrogenase 1 (NADP+), soluble ISO ClinVar Annotator: match by term: Cutaneous melanoma ClinVar PMID:18772396 PMID:19657110 PMID:19798509 PMID:19818334 PMID:20946881 More... NCBI chr 1:65,197,775...65,225,638
Ensembl chr 1:65,197,775...65,225,659 		JBrowse link
G Kit KIT proto-oncogene receptor tyrosine kinase ISO ClinVar Annotator: match by term: Malignant melanoma of skin ClinVar PMID:7530509 PMID:9438854 PMID:11073817 PMID:11276010 PMID:11526490 More... NCBI chr 5:75,735,647...75,817,382
Ensembl chr 5:75,735,576...75,817,382 		JBrowse link
G Knstrn kinetochore-localized astrin/SPAG5 binding ISO ClinVar Annotator: match by term: Cutaneous melanoma ClinVar PMID:26619011 NCBI chr 2:118,644,470...118,667,691
Ensembl chr 2:118,644,484...118,684,438 		JBrowse link
G Kras Kirsten rat sarcoma viral oncogene homolog ISO ClinVar Annotator: match by term: Cutaneous melanoma ClinVar PMID:2278970 PMID:3122217 PMID:12460918 PMID:15696205 PMID:16361624 More... NCBI chr 6:145,162,425...145,197,631
Ensembl chr 6:145,162,425...145,195,965 		JBrowse link
G Lrrc56 leucine rich repeat containing 56 ISO ClinVar Annotator: match by term: Cutaneous melanoma | ClinVar Annotator: match by term: Malignant melanoma of skin
ClinVar Annotator: match by term: Cutaneous melanoma | ClinVar Annotator: match by term: DYSPLASTIC NEVUS SYNDROME, HEREDITARY | ClinVar Annotator: match by term: Malignant melanoma of skin		 ClinVar PMID:1904555 PMID:3510078 PMID:11150980 PMID:12835555 PMID:16155195 More... NCBI chr 7:140,774,024...140,789,968
Ensembl chr 7:140,774,070...140,789,968 		JBrowse link
G Map2k1 mitogen-activated protein kinase kinase 1 ISO ClinVar Annotator: match by term: Cutaneous melanoma | ClinVar Annotator: match by term: Malignant melanoma of skin ClinVar PMID:17366577 PMID:17551924 PMID:19915144 PMID:21107320 PMID:22197931 More... NCBI chr 9:64,093,066...64,160,887
Ensembl chr 9:64,093,052...64,160,913 		JBrowse link
G Map2k2 mitogen-activated protein kinase kinase 2 ISO ClinVar Annotator: match by term: Malignant melanoma of skin ClinVar PMID:18042262 PMID:26619011 NCBI chr10:80,941,749...80,960,531
Ensembl chr10:80,941,749...80,969,809 		JBrowse link
G Mir21a microRNA 21a disease_progression ISO RNA:increased expression:skin (human) RGD PMID:26150475 RGD:11342032 NCBI chr11:86,474,893...86,474,984
Ensembl chr11:86,474,893...86,474,984 		JBrowse link
G Mmp1a matrix metallopeptidase 1a (interstitial collagenase) disease_progression ISO DNA:polymorphisms, haplotypes:promoter:multiple
DNA:SNPs, haplotype:promoter:multiple		 RGD PMID:20655738 PMID:22198560 RGD:8549726, RGD:8549727 NCBI chr 9:7,464,141...7,476,870
Ensembl chr 9:7,464,141...7,476,857 		JBrowse link
G Mmp1b matrix metallopeptidase 1b (interstitial collagenase) disease_progression ISO DNA:SNPs, haplotype:promoter:multiple
DNA:polymorphisms, haplotypes:promoter:multiple		 RGD PMID:20655738 PMID:22198560 RGD:8549726 RGD:8549727 NCBI chr 9:7,367,670...7,388,026
Ensembl chr 9:7,368,239...7,388,047 		JBrowse link
G Mmp2 matrix metallopeptidase 2 severity ISO mRNA:increased expression:skin RGD PMID:20966734 PMID:12404291 PMID:18251742 RGD:8657055, RGD:13204786, RGD:8657075 NCBI chr 8:93,553,920...93,580,049
Ensembl chr 8:93,553,919...93,580,048 		JBrowse link
G Mmp9 matrix metallopeptidase 9 disease progression ISO DNA:SNP, missense mutations:promoter, cds:-1562C>T,p.R279Q, p.P574R (human) RGD PMID:17346338 PMID:12404291 RGD:8547886, RGD:13204786 NCBI chr 2:164,782,246...164,797,770
Ensembl chr 2:164,782,700...164,797,770 		JBrowse link
G Mtor mechanistic target of rapamycin kinase ISO ClinVar Annotator: match by term: Cutaneous melanoma ClinVar PMID:20190810 PMID:24631838 PMID:25741868 PMID:26018084 PMID:26619011 More... NCBI chr 4:148,533,039...148,642,142
Ensembl chr 4:148,533,068...148,642,140 		JBrowse link
G Myc myelocytomatosis oncogene ISO ClinVar Annotator: match by term: Malignant melanoma of skin ClinVar PMID:25157968 PMID:26619011 NCBI chr15:61,857,190...61,862,210
Ensembl chr15:61,857,240...61,862,223 		JBrowse link
G Naip2 NLR family, apoptosis inhibitory protein 2 exacerbates ISO mRNA:increased expression:zone of skin (human) RGD PMID:31964418 RGD:153344516 NCBI chr13:100,280,571...100,338,630
Ensembl chr13:100,280,571...100,338,600 		JBrowse link
G Nras neuroblastoma ras oncogene ISO ClinVar Annotator: match by term: Cutaneous melanoma ClinVar PMID:1654209 PMID:2278970 PMID:2407301 PMID:2674680 PMID:2989702 More... NCBI chr 3:102,965,643...102,975,230
Ensembl chr 3:102,965,601...102,975,230 		JBrowse link
G Oca2 oculocutaneous albinism II susceptibility ISO DNA:snp:cds:p.R419Q (rs1800407) (human)
DNA:missense mutation:cds:p.H615R (rs1800414) (human)
DNA:snps:exon, intron:multiple (human)		 RGD PMID:19710684 PMID:24617981 PMID:15889046 RGD:9491818, RGD:9491831, RGD:9491829 NCBI chr 7:55,889,341...56,186,266
Ensembl chr 7:55,889,508...56,186,266 		JBrowse link
G Pdcd4 programmed cell death 4 disease_progression ISO mRNA:decreased expression:skin (human) RGD PMID:26150475 RGD:11342032 NCBI chr19:53,880,662...53,926,024
Ensembl chr19:53,880,662...53,918,291 		JBrowse link
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha ISO ClinVar Annotator: match by term: Cutaneous melanoma ClinVar PMID:15016963 PMID:15254419 PMID:15520168 PMID:15608678 PMID:15647370 More... NCBI chr 3:32,451,203...32,520,256
Ensembl chr 3:32,451,820...32,522,635 		JBrowse link
G Pik3r1 phosphoinositide-3-kinase regulatory subunit 1 ISO ClinVar Annotator: match by term: Cutaneous melanoma | ClinVar Annotator: match by term: Malignant melanoma of skin ClinVar PMID:19962457 PMID:25157968 PMID:25741868 PMID:26619011 NCBI chr13:101,817,269...101,904,725
Ensembl chr13:101,817,071...101,904,725 		JBrowse link
G Pot1a protection of telomeres 1A ISO ClinVar Annotator: match by term: Malignant melanoma of skin
ClinVar Annotator: match by term: DYSPLASTIC NEVUS SYNDROME, HEREDITARY		 ClinVar PMID:24686846 PMID:25741868 PMID:26467025 PMID:28492532 PMID:30451293 More... NCBI chr 6:25,743,939...25,809,280
Ensembl chr 6:25,743,736...25,809,245 		JBrowse link
G Ppp6c protein phosphatase 6, catalytic subunit ISO ClinVar Annotator: match by term: Malignant melanoma of skin ClinVar PMID:26619011 NCBI chr 2:39,084,381...39,116,361
Ensembl chr 2:39,084,366...39,116,463 		JBrowse link
G Pten phosphatase and tensin homolog ISO ClinVar Annotator: match by term: Cutaneous melanoma ClinVar PMID:1945792 PMID:9467011 PMID:9915974 PMID:10866302 PMID:11051241 More... NCBI chr19:32,734,977...32,803,560
Ensembl chr19:32,734,897...32,803,560 		JBrowse link
G Rac1 Rac family small GTPase 1 ISO ClinVar Annotator: match by term: Cutaneous melanoma ClinVar PMID:25056119 PMID:26619011 NCBI chr 5:143,491,236...143,513,786
Ensembl chr 5:143,489,389...143,513,791 		JBrowse link
G Raf1 v-raf-leukemia viral oncogene 1 ISO ClinVar Annotator: match by term: Cutaneous melanoma ClinVar PMID:1760348 PMID:10064593 PMID:17603482 PMID:17603483 PMID:19568997 More... NCBI chr 6:115,595,530...115,653,596
Ensembl chr 6:115,595,028...115,653,596 		JBrowse link
G Sf3b1 splicing factor 3b, subunit 1 ISO ClinVar Annotator: match by term: Malignant melanoma of skin ClinVar PMID:23634996 PMID:25741868 PMID:26619011 NCBI chr 1:55,024,328...55,066,660
Ensembl chr 1:55,024,328...55,066,640 		JBrowse link
G Sf3b2 splicing factor 3b, subunit 2 ISO ClinVar Annotator: match by term: Malignant melanoma of skin ClinVar PMID:26619011 NCBI chr19:5,323,949...5,345,485
Ensembl chr19:5,323,960...5,345,483 		JBrowse link
G Slc45a2 solute carrier family 45, member 2 ISO ClinVar Annotator: match by term: Malignant melanoma of skin ClinVar PMID:15714523 PMID:17044855 PMID:17999355 PMID:18563784 PMID:18683857 More... NCBI chr15:11,000,807...11,029,319
Ensembl chr15:11,000,807...11,029,319 		JBrowse link
G Stat3 signal transducer and activator of transcription 3 disease_progression ISO RGD PMID:21876460 RGD:8694297 NCBI chr11:100,777,632...100,830,447
Ensembl chr11:100,775,924...100,830,366 		JBrowse link
G Stk11 serine/threonine kinase 11 ISO ClinVar Annotator: match by term: DYSPLASTIC NEVUS SYNDROME, HEREDITARY ClinVar PMID:10201537 PMID:10208439 PMID:23555315 PMID:23993471 PMID:24033266 More... NCBI chr10:79,951,602...79,966,513
Ensembl chr10:79,951,637...79,966,516 		JBrowse link
G Stk19 serine/threonine kinase 19 ISO ClinVar Annotator: match by term: Cutaneous melanoma ClinVar PMID:26619011 NCBI chr17:35,042,969...35,055,879
Ensembl chr17:35,042,969...35,055,921 		JBrowse link
G Trp53 transformation related protein 53 ISO ClinVar Annotator: match by term: Cutaneous melanoma | ClinVar Annotator: match by term: DYSPLASTIC NEVUS SYNDROME, HEREDITARY | ClinVar Annotator: match by term: Malignant melanoma of skin
ClinVar Annotator: match by term: Cutaneous melanoma | ClinVar Annotator: match by term: Malignant melanoma of skin		 ClinVar PMID:253702 PMID:1349175 PMID:1359493 PMID:1565143 PMID:1565144 More... NCBI chr11:69,471,174...69,482,699
Ensembl chr11:69,471,185...69,482,699 		JBrowse link
G Trp73 transformation related protein 73 ISO mRNA:increased expression:skin of body (human) RGD PMID:30420492 RGD:151347580 NCBI chr 4:154,140,706...154,224,332
Ensembl chr 4:154,140,706...154,224,665 		JBrowse link
G Tyr tyrosinase susceptibility ISO DNA:missense mutation:cds:p.R402Q(human) RGD PMID:21906913 RGD:8694390 NCBI chr 7:87,073,979...87,142,637
Ensembl chr 7:87,073,979...87,142,720 		JBrowse link
G Vdr vitamin D (1,25-dihydroxyvitamin D3) receptor susceptibility
no_association		 ISO DNA:missense mutation, silent mutation: :p,M1T, p.I352 (c.1056T>C) (rs2228570, rs731236) (human)
DNA:SNPs: :multiple		 RGD PMID:16990805 PMID:22576141 PMID:19615888 RGD:8157629, RGD:8158075, RGD:8158071 NCBI chr15:97,752,308...97,806,177
Ensembl chr15:97,752,306...97,808,511 		JBrowse link
skin papilloma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccl20 C-C motif chemokine ligand 20 ISO protein:decreased expression:skin RGD PMID:21715145 RGD:7483622 NCBI chr 1:83,094,487...83,096,888
Ensembl chr 1:83,094,487...83,096,888 		JBrowse link
G Clu clusterin IEP RGD PMID:11085517 RGD:8746700 NCBI chr14:66,206,093...66,218,992
Ensembl chr14:66,205,932...66,218,996 		JBrowse link
G Fgf10 fibroblast growth factor 10 IEP protein:increased expression:skin (mouse) RGD PMID:24582960 RGD:126928134 NCBI chr13:118,851,199...118,928,651
Ensembl chr13:118,806,327...118,928,651 		JBrowse link
G Mir21a microRNA 21a ameliorates IMP RGD PMID:21646541 RGD:41404663 NCBI chr11:86,474,893...86,474,984
Ensembl chr11:86,474,893...86,474,984 		JBrowse link
G Nrg1 neuregulin 1 ISO DNA:hypermethylation: RGD PMID:31892232 RGD:39456089 NCBI chr 8:32,299,493...33,381,858
Ensembl chr 8:32,304,579...33,374,825
Ensembl chr 8:32,304,579...33,374,825 		JBrowse link
G Tlr2 toll-like receptor 2 ISO protein:increased expression,altered expression:cytoplasm,membrane, nucleus: RGD PMID:24617037 RGD:8553046 NCBI chr 3:83,743,579...83,749,045
Ensembl chr 3:83,743,579...83,749,074 		JBrowse link
skin squamous cell carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ctcf CCCTC-binding factor ISO DNA:mutations:multiple (human) RGD PMID:27974201 RGD:151356739 NCBI chr 8:106,351,135...106,409,554
Ensembl chr 8:106,363,200...106,409,554 		JBrowse link
G Ddx5 DEAD box helicase 5 ISO protein:increased expression:foreskin (human) RGD PMID:22548649 RGD:9850272 NCBI chr11:106,671,181...106,680,011
Ensembl chr11:106,671,181...106,680,011 		JBrowse link
G Fat1 FAT atypical cadherin 1 disease_progression IMP associated with Neoplasm Metastasis RGD PMID:33328637 RGD:151347447 NCBI chr 8:45,386,137...45,505,294
Ensembl chr 8:45,388,484...45,505,294 		JBrowse link
G Fgf10 fibroblast growth factor 10 IMP
IEP		 Pten conditional KO mouse
protein:increased expression:skin (mouse)		 RGD PMID:24582960 PMID:24582960 RGD:126928134, RGD:126928134 NCBI chr13:118,851,199...118,928,651
Ensembl chr13:118,806,327...118,928,651 		JBrowse link
G Knstrn kinetochore-localized astrin/SPAG5 binding ISO DNA:mutation:cds: p.Ala40Glu (human)
DNA:mutation:cds: p.Ser24Phe(human)		 RGD PMID:30972880 PMID:25194279 RGD:28867225, RGD:28867226 NCBI chr 2:118,644,470...118,667,691
Ensembl chr 2:118,644,484...118,684,438 		JBrowse link
G Pten phosphatase and tensin homolog ameliorates IGI RGD PMID:24582960 RGD:126928134 NCBI chr19:32,734,977...32,803,560
Ensembl chr19:32,734,897...32,803,560 		JBrowse link
Sweat Gland Neoplasms term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Trp63 transformation related protein 63 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20740144 NCBI chr16:25,502,513...25,710,842
Ensembl chr16:25,502,513...25,710,852 		JBrowse link
Trichilemmoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hras Harvey rat sarcoma virus oncogene ISO associated with Nevus sebaceous; DNA:mutation:exon:c.37G>C (p.G13R)(human) RGD PMID:24890286 RGD:12738400 NCBI chr 7:140,770,839...140,773,938
Ensembl chr 7:140,769,018...140,773,918 		JBrowse link
Trichoepithelioma, Multiple Familial, 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cyld CYLD lysine 63 deubiquitinase ISO ClinVar Annotator: match by term: Trichoepithelioma, multiple familial, 2 ClinVar PMID:25741868 NCBI chr 8:89,423,506...89,478,574
Ensembl chr 8:89,423,675...89,478,573 		JBrowse link
Tufted Angioma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gna14 guanine nucleotide binding protein, alpha 14 ISO ClinVar Annotator: match by term: Tufted angioma ClinVar PMID:25741868 NCBI chr19:16,413,031...16,590,706
Ensembl chr19:16,413,126...16,588,184 		JBrowse link
G Kdr kinase insert domain protein receptor ISO ClinVar Annotator: match by term: Tufted angioma ClinVar PMID:25741868 PMID:26422291 PMID:28492532 NCBI chr 5:76,093,487...76,139,880
Ensembl chr 5:76,093,487...76,139,118 		JBrowse link
verrucous keratotic hemangioma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Map3k3 mitogen-activated protein kinase kinase kinase 3 ISO ClinVar Annotator: match by term: Verrucous venous malformation ClinVar PMID:25741868 NCBI chr11:105,975,358...106,047,482
Ensembl chr11:105,975,439...106,046,272 		JBrowse link
von Hippel-Lindau disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Brk1 BRICK1, SCAR/WAVE actin-nucleating complex subunit ISO ClinVar Annotator: match by term: Von Hippel-Lindau syndrome ClinVar PMID:25741868 NCBI chr 6:113,581,733...113,593,912
Ensembl chr 6:113,581,733...113,593,912 		JBrowse link
G Ccnd1 cyclin D1 susceptibility ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: VON HIPPEL-LINDAU SYNDROME, MODIFIER OF		 CTD
ClinVar
OMIM		 PMID:10667569 PMID:11459873 PMID:12097293 PMID:23502783 PMID:24870244 More... NCBI chr 7:144,483,668...144,493,568
Ensembl chr 7:144,483,668...144,493,662 		JBrowse link
G Epas1 endothelial PAS domain protein 1 ISO protein:increased expression:kidney: RGD PMID:22299048 RGD:11041600 NCBI chr17:87,061,292...87,140,838
Ensembl chr17:87,061,128...87,140,838 		JBrowse link
G Irak2 interleukin-1 receptor-associated kinase 2 ISO ClinVar Annotator: match by term: Von Hippel-Lindau syndrome ClinVar PMID:25741868 NCBI chr 6:113,615,428...113,671,987
Ensembl chr 6:113,615,428...113,671,987 		JBrowse link
G Mmp3 matrix metallopeptidase 3 onset ISO RGD PMID:19551141 RGD:7241233 NCBI chr 9:7,445,845...7,455,975
Ensembl chr 9:7,445,822...7,455,975 		JBrowse link
G Sdhb succinate dehydrogenase complex, subunit B, iron sulfur (Ip) ISO ClinVar Annotator: match by term: Von Hippel-Lindau syndrome ClinVar PMID:9509062 PMID:11404820 PMID:12618761 PMID:16314641 PMID:16317055 More... NCBI chr 4:140,688,582...140,706,509
Ensembl chr 4:140,688,514...140,706,504 		JBrowse link
G Slc18a1 solute carrier family 18 (vesicular monoamine), member 1 ISO mRNA:increased expression:tumor (human) RGD PMID:16189177 RGD:5131200 NCBI chr 8:69,490,360...69,547,951
Ensembl chr 8:69,490,363...69,541,887 		JBrowse link
G Vhl von Hippel-Lindau tumor suppressor ISO
IAGP		 ClinVar Annotator: match by term: VHL syndrome | ClinVar Annotator: match by term: Von Hippel-Lindau | ClinVar Annotator: match by term: Von Hippel-Lindau syndrome
OMIM:193300
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:982991 PMID:1056348 PMID:2362675 PMID:2844285 PMID:7553625 More... NCBI chr 6:113,600,955...113,608,595
Ensembl chr 6:113,600,920...113,608,594 		JBrowse link
WHIM syndrome 1 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
IAGP		 ClinVar Annotator: match by term: CXCR4-related condition | ClinVar Annotator: match by term: WHIM syndrome 1 | ClinVar Annotator: match by term: Warts, hypogammaglobulinemia, infections, and myelokathexis
OMIM:193670
CTD Direct Evidence: marker/mechanism
DNA:frame shift, nonsense mutations:cds:1016_1017delCT,p.R334X,E343X(human)		 OMIM
ClinVar
MouseDO
CTD
RGD		 PMID:12692554 PMID:15026312 PMID:15536153 PMID:16275383 PMID:16899028 More... RGD:734860 NCBI chr 1:128,515,936...128,520,036
Ensembl chr 1:128,515,936...128,520,030 		JBrowse link
G Dars1 aspartyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Warts, hypogammaglobulinemia, infections, and myelokathexis ClinVar PMID:28492532 NCBI chr 1:128,291,444...128,345,153
Ensembl chr 1:128,291,444...128,345,105 		JBrowse link
G Lct lactase ISO ClinVar Annotator: match by term: Warts, hypogammaglobulinemia, infections, and myelokathexis ClinVar PMID:28492532 NCBI chr 1:128,212,493...128,256,055
Ensembl chr 1:128,212,493...128,256,055 		JBrowse link
G Mcm6 minichromosome maintenance complex component 6 ISO ClinVar Annotator: match by term: Warts, hypogammaglobulinemia, infections, and myelokathexis ClinVar PMID:28492532 NCBI chr 1:128,259,312...128,287,442
Ensembl chr 1:128,259,327...128,287,401 		JBrowse link
G Mir128-1 microRNA 128-1 ISO ClinVar Annotator: match by term: Warts, hypogammaglobulinemia, infections, and myelokathexis ClinVar PMID:28492532 NCBI chr 1:128,130,098...128,130,167
Ensembl chr 1:128,130,098...128,130,167 		JBrowse link
G R3hdm1 R3H domain containing 1 ISO ClinVar Annotator: match by term: Warts, hypogammaglobulinemia, infections, and myelokathexis ClinVar PMID:28492532 NCBI chr 1:128,031,016...128,165,475
Ensembl chr 1:128,031,038...128,165,473 		JBrowse link
G Rab3gap1 RAB3 GTPase activating protein subunit 1 ISO ClinVar Annotator: match by term: Warts, hypogammaglobulinemia, infections, and myelokathexis ClinVar PMID:28492532 NCBI chr 1:127,796,492...127,871,612
Ensembl chr 1:127,796,510...127,871,605 		JBrowse link
G Ubxn4 UBX domain protein 4 ISO ClinVar Annotator: match by term: Warts, hypogammaglobulinemia, infections, and myelokathexis ClinVar PMID:28492532 NCBI chr 1:128,171,635...128,207,115
Ensembl chr 1:128,171,701...128,207,115 		JBrowse link
G Zranb3 zinc finger, RAN-binding domain containing 3 ISO ClinVar Annotator: match by term: Warts, hypogammaglobulinemia, infections, and myelokathexis ClinVar PMID:28492532 NCBI chr 1:127,881,916...128,030,799
Ensembl chr 1:127,881,921...128,030,784 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18300
    sensory system disease 6744
      skin disease 3824
        Skin Neoplasms 401
          Abdominal Chemodectomas with Cutaneous Angiolipomas 0
          Bazex-Dupre-Christol Syndrome 0
          Becker Nevus Syndrome 1
          Blue Rubber Bleb Nevus Syndrome 2
          Brooke-Spiegler syndrome 1
          Calcifying Epithelial Odontogenic Tumor 0
          Cardiomyopathy Hypogonadism Collagenoma Syndrome 0
          Davenport Donlan Syndrome 0
          Familial Cutaneous Collagenoma 1
          Familial Cutaneous Papillomatosis 0
          Familial Multiple Trichodiscomas 0
          Fanconi-like syndrome 2
          Hamartoma, Precalcaneal Congenital Fibrolipomatous 0
          Hereditary Leiomyomatosis and Renal Cell Cancer 12
          Palmoplantar Hyperkeratosis with Squamous Cell Carcinoma of Skin and Sex Reversal 1
          Phacomatosis Pigmentokeratotica 0
          Progressive Mucinous Histiocytosis 0
          Reactive Angioendotheliomatosis 0
          Rombo Syndrome 0
          Sclerotylosis 1
          Sweat Gland Neoplasms + 99
          Trichoepithelioma, Multiple Familial, 2 1
          Trichoepitheliomas, Multiple Desmoplastic 0
          Trichofolliculoma 0
          Tufted Angioma 2
          acanthoma + 4
          dermatopathia pigmentosa reticularis 1
          large congenital melanocytic nevus 3
          sebaceous gland neoplasm + 5
          skin benign neoplasm + 195
          skin cancer + 159
Path 2
Term Annotations click to browse term
  disease 18300
    Pathological Conditions, Signs and Symptoms 12356
      Signs and Symptoms 10134
        Neurologic Manifestations 9788
          sensory system disease 6744
            skin disease 3824
              Skin Neoplasms 401
                Abdominal Chemodectomas with Cutaneous Angiolipomas 0
                Bazex-Dupre-Christol Syndrome 0
                Becker Nevus Syndrome 1
                Blue Rubber Bleb Nevus Syndrome 2
                Brooke-Spiegler syndrome 1
                Calcifying Epithelial Odontogenic Tumor 0
                Cardiomyopathy Hypogonadism Collagenoma Syndrome 0
                Davenport Donlan Syndrome 0
                Familial Cutaneous Collagenoma 1
                Familial Cutaneous Papillomatosis 0
                Familial Multiple Trichodiscomas 0
                Fanconi-like syndrome 2
                Hamartoma, Precalcaneal Congenital Fibrolipomatous 0
                Hereditary Leiomyomatosis and Renal Cell Cancer 12
                Palmoplantar Hyperkeratosis with Squamous Cell Carcinoma of Skin and Sex Reversal 1
                Phacomatosis Pigmentokeratotica 0
                Progressive Mucinous Histiocytosis 0
                Reactive Angioendotheliomatosis 0
                Rombo Syndrome 0
                Sclerotylosis 1
                Sweat Gland Neoplasms + 99
                Trichoepithelioma, Multiple Familial, 2 1
                Trichoepitheliomas, Multiple Desmoplastic 0
                Trichofolliculoma 0
                Tufted Angioma 2
                acanthoma + 4
                dermatopathia pigmentosa reticularis 1
                large congenital melanocytic nevus 3
                sebaceous gland neoplasm + 5
                skin benign neoplasm + 195
                skin cancer + 159
paths to the root