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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 cancer
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Accession:DOID:4159 term browser browse the term
Definition:An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells. (DO)
Synonyms:exact_synonym: CA - skin cancer;   cancer of skin;   cancer of the skin;   malignant neoplasm of skin;   melanoma and non-melanoma skin cancer;   skin cancers
 xref: EFO:0004198;   GARD:10421;   MONDO:0002898;   NCI:C2920
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
skin cancer term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANXA7 annexin A7 IEP protein:decreased expression:skin RGD PMID:17708571 RGD:2292654 NCBI chr10:73,375,101...73,414,058
Ensembl chr10:73,375,101...73,414,076
JBrowse link
G CHUK component of inhibitor of nuclear factor kappa B kinase complex ISO RGD PMID:21755017 RGD:13504775 NCBI chr10:100,186,319...100,229,596
Ensembl chr10:100,188,300...100,229,596
JBrowse link
G CRKL CRK like proto-oncogene, adaptor protein IEP RGD PMID:16391854 RGD:7488899 NCBI chr22:20,917,407...20,953,747
Ensembl chr22:20,917,407...20,953,747
JBrowse link
G PML PML nuclear body scaffold severity IMP human gene in a mouse model RGD PMID:19058256 RGD:41404688 NCBI chr15:73,994,716...74,047,827
Ensembl chr15:73,994,673...74,047,827
JBrowse link
G SNAI1 snail family transcriptional repressor 1 ISS MouseDO NCBI chr20:49,982,980...49,988,886
Ensembl chr20:49,982,980...49,988,886
JBrowse link
G SRSF6 serine and arginine rich splicing factor 6 IEP protein:increased expression:skin (human) RGD PMID:24440982 RGD:11039481 NCBI chr20:43,457,896...43,464,243
Ensembl chr20:43,457,893...43,466,046
JBrowse link
basal cell carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABI3BP ABI family member 3 binding protein EXP CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 3:100,749,156...100,993,421
Ensembl chr 3:100,749,156...100,993,515
JBrowse link
G ACAA2 acetyl-CoA acyltransferase 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr18:49,782,164...49,813,533
Ensembl chr18:49,782,164...49,813,953
JBrowse link
G ACADL acyl-CoA dehydrogenase long chain EXP CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 2:210,187,923...210,225,447
Ensembl chr 2:210,187,126...210,225,447
JBrowse link
G ADAM23 ADAM metallopeptidase domain 23 EXP CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 2:206,443,532...206,621,127
Ensembl chr 2:206,443,532...206,621,127
JBrowse link
G ALCAM activated leukocyte cell adhesion molecule EXP CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 3:105,366,909...105,576,900
Ensembl chr 3:105,366,909...105,576,900
JBrowse link
G ALYREF Aly/REF export factor EXP CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr17:81,887,835...81,891,587
Ensembl chr17:81,887,835...81,891,586
JBrowse link
G ARID5B AT-rich interaction domain 5B EXP CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr10:61,901,699...62,096,944
Ensembl chr10:61,901,684...62,096,944
JBrowse link
G ARPC1B actin related protein 2/3 complex subunit 1B EXP CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 7:99,374,259...99,394,816
Ensembl chr 7:99,374,249...99,394,816
JBrowse link
G ASIP agouti signaling protein EXP CTD Direct Evidence: marker/mechanism CTD PMID:18488027 NCBI chr20:34,186,493...34,269,344
Ensembl chr20:34,194,569...34,269,344
JBrowse link
G ATF2 activating transcription factor 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 2:175,072,259...175,168,203
Ensembl chr 2:175,072,250...175,168,382
JBrowse link
G ATP5PB ATP synthase peripheral stalk-membrane subunit b EXP CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 1:111,449,464...111,462,773
Ensembl chr 1:111,448,864...111,462,773
JBrowse link
G BAP1 BRCA1 associated deubiquitinase 1 IAGP
EXP
CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:26719535 PMID:25080371 RGD:9586038 NCBI chr 3:52,401,008...52,410,008
Ensembl chr 3:52,401,008...52,410,008
JBrowse link
G BASP1 brain abundant membrane attached signal protein 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 5:17,216,823...17,276,834
Ensembl chr 5:17,065,598...17,276,843
JBrowse link
G BNC2 basonuclin zinc finger protein 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 9:16,409,503...16,870,670
Ensembl chr 9:16,409,503...16,870,843
JBrowse link
G C1QA complement C1q A chain EXP CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 1:22,636,463...22,639,678
Ensembl chr 1:22,635,077...22,639,678
JBrowse link
G C1QTNF1 C1q and TNF related 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr17:79,022,934...79,049,788
Ensembl chr17:79,022,814...79,049,788
JBrowse link
G CAV1 caveolin 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 7:116,525,009...116,561,185
Ensembl chr 7:116,524,994...116,561,179
JBrowse link
G CCDC152 coiled-coil domain containing 152 EXP CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 5:42,756,818...42,802,439
Ensembl chr 5:42,756,818...42,802,439
JBrowse link
G CCNH cyclin H IAGP ClinVar Annotator: match by term: Basal cell carcinoma, susceptibility to, 1
ClinVar Annotator: match by term: RASA1-related condition
ClinVar Annotator: match by term: Basal cell carcinoma, susceptibility to, 1 | ClinVar Annotator: match by term: RASA1-related condition
ClinVar Annotator: match by term: BCC1 | ClinVar Annotator: match by term: RASA1-related condition
ClinVar Annotator: match by term: BCC1 | ClinVar Annotator: match by term: Basal cell carcinoma, susceptibility to, 1
ClinVar Annotator: match by term: Basal cell carcinoma, somatic
ClinVar PMID:8275088 PMID:9219684 PMID:15574420 PMID:18363760 PMID:18446851 More... NCBI chr 5:87,311,471...87,412,930
Ensembl chr 5:87,318,416...87,413,029
JBrowse link
G CHCHD7 coiled-coil-helix-coiled-coil-helix domain containing 7 EXP CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 8:56,211,789...56,218,809
Ensembl chr 8:56,211,686...56,218,809
JBrowse link
G CHD3 chromodomain helicase DNA binding protein 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr17:7,884,796...7,912,755
Ensembl chr17:7,884,796...7,912,760
JBrowse link
G CHGA chromogranin A EXP CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr14:92,922,664...92,935,285
Ensembl chr14:92,923,150...92,935,285
JBrowse link
G CLPTM1L CLPTM1 like EXP CTD Direct Evidence: marker/mechanism CTD PMID:19151717 NCBI chr 5:1,317,752...1,345,099
Ensembl chr 5:1,317,752...1,345,099
JBrowse link
G COA3 cytochrome c oxidase assembly factor 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr17:42,797,625...42,798,704
Ensembl chr17:42,795,147...42,798,704
JBrowse link
G COA7 cytochrome c oxidase assembly factor 7 EXP CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 1:52,684,449...52,698,347
Ensembl chr 1:52,684,449...52,698,347
JBrowse link
G CREB5 cAMP responsive element binding protein 5 EXP CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 7:28,299,321...28,825,894
Ensembl chr 7:28,299,321...28,825,894
JBrowse link
G CRNKL1 crooked neck pre-mRNA splicing factor 1 IAGP DNA:missense mutation:cds:p.S128F (human) RGD PMID:23774526 RGD:9850250 NCBI chr20:20,034,368...20,056,046
Ensembl chr20:20,034,368...20,056,046
JBrowse link
G CSPG4 chondroitin sulfate proteoglycan 4 EXP CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr15:75,674,322...75,713,466
Ensembl chr15:75,674,322...75,712,848
JBrowse link
G CTCF CCCTC-binding factor IAGP DNA:mutations:multiple (human) RGD PMID:27974201 RGD:151356739 NCBI chr16:67,562,526...67,639,185
Ensembl chr16:67,562,467...67,639,177
JBrowse link
G CTLA4 cytotoxic T-lymphocyte associated protein 4 susceptibility IAGP DNA:SNP: :rs3087243(human) RGD PMID:19622768 RGD:7411686 NCBI chr 2:203,867,771...203,873,965
Ensembl chr 2:203,853,888...203,873,965
JBrowse link
G DCLRE1A DNA cross-link repair 1A EXP CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr10:113,834,725...113,854,394
Ensembl chr10:113,834,725...113,854,383
JBrowse link
G DCP1B decapping mRNA 1B EXP CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr12:1,941,591...2,004,457
Ensembl chr12:1,946,053...2,004,535
JBrowse link
G DHX15 DEAH-box helicase 15 EXP CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 4:24,527,475...24,584,554
Ensembl chr 4:24,517,441...24,584,554
JBrowse link
G DIO2 iodothyronine deiodinase 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr14:80,197,526...80,231,057
Ensembl chr14:80,197,526...80,387,757
JBrowse link
G DSC2 desmocollin 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr18:31,058,840...31,102,421
Ensembl chr18:31,058,545...31,102,600
JBrowse link
G DUSP10 dual specificity phosphatase 10 EXP CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 1:221,701,424...221,742,089
Ensembl chr 1:221,701,424...221,742,089
JBrowse link
G EDN1 endothelin 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 6:12,230,516...12,297,194
Ensembl chr 6:12,290,361...12,297,194
JBrowse link
G ELK3 ETS transcription factor ELK3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr12:96,194,375...96,269,824
Ensembl chr12:96,194,375...96,269,824
JBrowse link
G ERBB2 erb-b2 receptor tyrosine kinase 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:26950094 NCBI chr17:39,688,094...39,728,658
Ensembl chr17:39,687,914...39,730,426
JBrowse link
G FAM234A family with sequence similarity 234 member A EXP CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr16:234,821...269,963
Ensembl chr16:234,521...272,183
JBrowse link
G FARP1 FERM, ARH/RhoGEF and pleckstrin domain protein 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr13:98,142,589...98,455,176
Ensembl chr13:98,142,562...98,455,176
JBrowse link
G FBN3 fibrillin 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr19:8,065,402...8,149,592
Ensembl chr19:8,065,402...8,149,592
JBrowse link
G FBXW7 F-box and WD repeat domain containing 7 EXP CTD Direct Evidence: marker/mechanism CTD PMID:26950094 NCBI chr 4:152,320,544...152,536,092
Ensembl chr 4:152,320,544...152,536,092
JBrowse link
G FMO2 flavin containing dimethylaniline monoxygenase 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 1:171,185,208...171,212,686
Ensembl chr 1:171,185,249...171,212,686
JBrowse link
G FNBP1L formin binding protein 1 like EXP CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 1:93,448,118...93,554,661
Ensembl chr 1:93,448,118...93,554,661
JBrowse link
G FSCN1 fascin actin-bundling protein 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 7:5,592,816...5,606,655
Ensembl chr 7:5,592,816...5,606,655
JBrowse link
G GALNT15 polypeptide N-acetylgalactosaminyltransferase 15 EXP CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 3:16,174,680...16,248,224
Ensembl chr 3:16,174,680...16,231,992
JBrowse link
G GJB6 gap junction protein beta 6 EXP CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr13:20,221,962...20,232,319
Ensembl chr13:20,221,962...20,232,365
JBrowse link
G GLI2 GLI family zinc finger 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:10700170 PMID:36428691 NCBI chr 2:120,735,868...120,992,653
Ensembl chr 2:120,735,623...120,992,653
JBrowse link
G GPX8 glutathione peroxidase 8 (putative) EXP CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 5:55,160,171...55,167,297
Ensembl chr 5:55,160,167...55,167,297
JBrowse link
G GRM5 glutamate metabotropic receptor 5 EXP CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr11:88,504,642...89,065,982
Ensembl chr11:88,504,576...89,065,982
JBrowse link
G GTF2I general transcription factor IIi EXP CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 7:74,657,718...74,760,692
Ensembl chr 7:74,650,231...74,760,692
JBrowse link
G HHIP hedgehog interacting protein treatment ISO mRNA:increased expression:skin: RGD PMID:15024045 PMID:15024045 RGD:11552592, RGD:11552592 NCBI chr 4:144,646,156...144,745,271
Ensembl chr 4:144,646,156...144,745,271
JBrowse link
G HMGN1P38 high mobility group nucleosome binding domain 1 pseudogene 38 EXP CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr15:92,711,694...92,712,907
Ensembl chr15:92,711,808...92,712,110
JBrowse link
G IFT88 intraflagellar transport 88 EXP CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr13:20,567,157...20,691,444
Ensembl chr13:20,567,138...20,691,444
JBrowse link
G IGF2BP1 insulin like growth factor 2 mRNA binding protein 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr17:48,996,558...49,056,145
Ensembl chr17:48,997,385...49,056,145
JBrowse link
G IGF2BP2 insulin like growth factor 2 mRNA binding protein 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 3:185,643,130...185,825,042
Ensembl chr 3:185,643,130...185,825,042
JBrowse link
G IL6 interleukin 6 EXP CTD Direct Evidence: marker/mechanism CTD PMID:22108589 NCBI chr 7:22,727,200...22,731,998
Ensembl chr 7:22,725,884...22,732,002
JBrowse link
G INPP4A inositol polyphosphate-4-phosphatase type I A EXP CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 2:98,444,587...98,594,392
Ensembl chr 2:98,444,854...98,594,392
JBrowse link
G IRS4 insulin receptor substrate 4 EXP CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr  X:108,719,946...108,736,563
Ensembl chr  X:108,719,946...108,736,563
JBrowse link
G IRX1 iroquois homeobox 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 5:3,595,832...3,601,403
Ensembl chr 5:3,595,832...3,601,403
JBrowse link
G JUN Jun proto-oncogene, AP-1 transcription factor subunit EXP CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 1:58,780,791...58,784,047
Ensembl chr 1:58,776,845...58,784,048
JBrowse link
G KRT17 keratin 17 EXP CTD Direct Evidence: marker/mechanism CTD PMID:20871598 PMID:36428691 NCBI chr17:41,619,442...41,624,575
Ensembl chr17:41,619,442...41,624,842
JBrowse link
G KRT5 keratin 5 EXP CTD Direct Evidence: marker/mechanism CTD PMID:19578363 PMID:20871598 NCBI chr12:52,514,575...52,520,394
Ensembl chr12:52,514,575...52,520,530
JBrowse link
G LATS1 large tumor suppressor kinase 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:26950094 NCBI chr 6:149,658,153...149,718,101
Ensembl chr 6:149,658,153...149,718,105
JBrowse link
G LEF1 lymphoid enhancer binding factor 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 4:108,047,548...108,168,932
Ensembl chr 4:108,047,545...108,168,956
JBrowse link
G LGR5 leucine rich repeat containing G protein-coupled receptor 5 EXP CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr12:71,439,129...71,586,310
Ensembl chr12:71,439,798...71,586,310
JBrowse link
G LITAF lipopolysaccharide induced TNF factor EXP CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr16:11,547,722...11,640,317
Ensembl chr16:11,546,875...11,636,381
JBrowse link
G LMAN1 lectin, mannose binding 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr18:59,327,823...59,359,265
Ensembl chr18:59,327,823...59,359,265
JBrowse link
G LOC100507346 uncharacterized LOC100507346 IAGP ClinVar Annotator: match by term: Basal cell carcinoma, susceptibility to, 1
ClinVar Annotator: match by term: BCC1 | ClinVar Annotator: match by term: Basal cell carcinoma, susceptibility to, 1
ClinVar PMID:11941477 PMID:16301862 PMID:16419085 PMID:17096318 PMID:22703879 More... NCBI chr 9:95,463,609...95,470,019 JBrowse link
G LOC130002133 ATAC-STARR-seq lymphoblastoid silent region 20071 IAGP ClinVar Annotator: match by term: Basal cell carcinoma, susceptibility to, 1
ClinVar Annotator: match by term: BCC1
ClinVar PMID:24728327 PMID:25741868 PMID:26467025 PMID:28492532 PMID:30093976 NCBI chr 9:95,508,202...95,508,521 JBrowse link
G LPL lipoprotein lipase EXP CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 8:19,939,253...19,967,259
Ensembl chr 8:19,901,717...19,967,259
JBrowse link
G LRIG3 leucine rich repeats and immunoglobulin like domains 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr12:58,872,155...58,920,504
Ensembl chr12:58,872,149...58,920,504
JBrowse link
G LRRCC1 leucine rich repeat and coiled-coil centrosomal protein 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 8:85,107,238...85,146,080
Ensembl chr 8:85,107,215...85,146,080
JBrowse link
G LTBP1 latent transforming growth factor beta binding protein 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 2:32,946,953...33,399,509
Ensembl chr 2:32,946,953...33,399,509
JBrowse link
G MARCKSL1 MARCKS like 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 1:32,333,839...32,336,233
Ensembl chr 1:32,333,839...32,336,233
JBrowse link
G MC1R melanocortin 1 receptor EXP CTD Direct Evidence: marker/mechanism CTD PMID:18539553 NCBI chr16:89,918,862...89,920,972
Ensembl chr16:89,912,119...89,920,973
JBrowse link
G MEX3A mex-3 RNA binding family member A EXP CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 1:156,072,013...156,082,465
Ensembl chr 1:156,072,013...156,082,465
JBrowse link
G MGAT5 alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase EXP CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 2:134,119,935...134,454,621
Ensembl chr 2:134,119,983...134,454,621
JBrowse link
G MMP11 matrix metallopeptidase 11 EXP CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr22:23,772,849...23,784,316
Ensembl chr22:23,768,226...23,784,316
JBrowse link
G MPPED1 metallophosphoesterase domain containing 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr22:43,412,014...43,507,848
Ensembl chr22:43,411,196...43,507,848
JBrowse link
G MT-TS1 mitochondrially encoded tRNA-Ser (UCN) 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr MT:7,446...7,514
Ensembl chr MT:7,446...7,514
JBrowse link
G MYCN MYCN proto-oncogene, bHLH transcription factor EXP CTD Direct Evidence: marker/mechanism CTD PMID:26950094 NCBI chr 2:15,940,550...15,947,004
Ensembl chr 2:15,940,550...15,947,007
JBrowse link
G MYH9 myosin heavy chain 9 EXP CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr22:36,281,280...36,387,967
Ensembl chr22:36,281,280...36,388,010
JBrowse link
G NBAT1 neuroblastoma associated transcript 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 6:22,134,602...22,147,193
Ensembl chr 6:22,133,205...22,222,641
JBrowse link
G NNMT nicotinamide N-methyltransferase EXP CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr11:114,257,806...114,313,536
Ensembl chr11:114,257,787...114,313,536
JBrowse link
G NUDCD1 NudC domain containing 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 8:109,240,919...109,334,087
Ensembl chr 8:109,240,919...109,334,121
JBrowse link
G NXN nucleoredoxin EXP CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr17:799,310...979,776
Ensembl chr17:799,310...979,776
JBrowse link
G OCA2 OCA2 melanosomal transmembrane protein susceptibility IAGP 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 chr15:27,719,008...28,099,315
Ensembl chr15:27,754,875...28,099,315
JBrowse link
G OGG1 8-oxoguanine DNA glycosylase no_association IEP
IAGP
DNA:missense mutation: :p.S326C (rs1052133)(human) RGD PMID:22436579 PMID:15466987 RGD:8657137, RGD:8657158 NCBI chr 3:9,749,952...9,783,108
Ensembl chr 3:9,749,944...9,788,219
JBrowse link
G OSCP1 organic solute carrier partner 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 1:36,417,906...36,450,451
Ensembl chr 1:36,415,827...36,450,451
JBrowse link
G PALB2 partner and localizer of BRCA2 IAGP ClinVar Annotator: match by term: Basal cell carcinoma ClinVar PMID:17200668 PMID:17200671 PMID:17200672 PMID:24136930 PMID:25099575 More... NCBI chr16:23,603,165...23,641,310
Ensembl chr16:23,603,160...23,641,321
JBrowse link
G PALM paralemmin EXP CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr19:708,935...748,329
Ensembl chr19:708,935...748,329
JBrowse link
G PELI2 pellino E3 ubiquitin protein ligase family member 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr14:56,118,411...56,301,524
Ensembl chr14:56,117,814...56,301,524
JBrowse link
G PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha EXP CTD Direct Evidence: marker/mechanism CTD PMID:26950094 NCBI chr 3:179,148,126...179,240,093
Ensembl chr 3:179,148,114...179,240,093
JBrowse link
G PLAG1 PLAG1 zinc finger EXP CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 8:56,160,909...56,211,273
Ensembl chr 8:56,160,909...56,211,324
JBrowse link
G PNMA1 PNMA family member 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr14:73,711,783...73,714,384
Ensembl chr14:73,711,783...73,714,384
JBrowse link
G PPP6C protein phosphatase 6 catalytic subunit EXP CTD Direct Evidence: marker/mechanism CTD PMID:26950094 NCBI chr 9:125,146,573...125,189,803
Ensembl chr 9:125,146,573...125,189,939
JBrowse link
G PROCR protein C receptor EXP CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr20:35,171,096...35,216,259
Ensembl chr20:35,172,072...35,216,240
JBrowse link
G PTCH1 patched 1 disease_progression IEP
IAGP
EXP
ISS
mRNA:increased expression:skin of body
ClinVar Annotator: match by term: BCC1 | ClinVar Annotator: match by term: Basal cell carcinoma, susceptibility to, 1
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Basal cell carcinoma, somatic
ClinVar
CTD
MouseDO
OMIM
RGD
PMID:8782823 PMID:8840969 PMID:9581815 PMID:9620294 PMID:11231326 More... RGD:12801453 NCBI chr 9:95,442,980...95,516,971
Ensembl chr 9:95,442,980...95,517,057
JBrowse link
G PTCH2 patched 2 IAGP
EXP
ClinVar Annotator: match by term: Basal cell carcinoma, somatic
ClinVar Annotator: match by term: PTCH2-related condition
ClinVar Annotator: match by term: BCC1 | ClinVar Annotator: match by term: Basal cell carcinoma, susceptibility to, 1 | ClinVar Annotator: match by term: PTCH2-related condition
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:9536098 PMID:9931336 PMID:17576681 PMID:25741868 PMID:28492532 More... NCBI chr 1:44,819,845...44,843,253
Ensembl chr 1:44,819,154...44,843,253
JBrowse link
G PTPN14 protein tyrosine phosphatase non-receptor type 14 EXP CTD Direct Evidence: marker/mechanism CTD PMID:26950094 NCBI chr 1:214,348,700...214,551,602
Ensembl chr 1:214,348,700...214,552,449
JBrowse link
G PYCR2 pyrroline-5-carboxylate reductase 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 1:225,919,878...225,924,250
Ensembl chr 1:225,919,877...225,924,340
JBrowse link
G RAB28 RAB28, member RAS oncogene family EXP CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 4:13,367,724...13,484,340
Ensembl chr 4:13,361,354...13,484,365
JBrowse link
G RAC3 Rac family small GTPase 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr17:82,031,678...82,034,204
Ensembl chr17:82,031,678...82,034,204
JBrowse link
G RASA1 RAS p21 protein activator 1 IAGP
EXP
DNA:missense mutations:cds: (human)
ClinVar Annotator: match by term: RASA1-related condition
ClinVar Annotator: match by term: Basal cell carcinoma, susceptibility to, 1 | ClinVar Annotator: match by term: RASA1-related condition
ClinVar Annotator: match by term: BCC1 | ClinVar Annotator: match by term: Basal cell carcinoma, susceptibility to, 1 | ClinVar Annotator: match by term: RASA1-related condition
ClinVar Annotator: match by term: Basal cell carcinoma, susceptibility to, 1 | ClinVar Annotator: match by term: PTCH2-related condition
ClinVar Annotator: match by term: Basal cell carcinoma, somatic
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
RGD
PMID:8275088 PMID:9219684 PMID:15574420 PMID:18363760 PMID:18446851 More... RGD:737716 NCBI chr 5:87,267,883...87,391,916
Ensembl chr 5:87,267,883...87,391,931
JBrowse link
G RB1 RB transcriptional corepressor 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:26950094 NCBI chr13:48,303,751...48,481,890
Ensembl chr13:48,303,744...48,599,436
JBrowse link
G RBP1 retinol binding protein 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 3:139,517,438...139,539,742
Ensembl chr 3:139,517,434...139,539,829
JBrowse link
G RGCC regulator of cell cycle EXP CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr13:41,457,550...41,470,871
Ensembl chr13:41,457,550...41,470,871
JBrowse link
G RN7SL776P RNA, 7SL, cytoplasmic 776, pseudogene EXP CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 4:167,400,495...167,400,762
Ensembl chr 4:167,400,495...167,400,762
JBrowse link
G ROCK1 Rho associated coiled-coil containing protein kinase 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr18:20,946,906...21,111,813
Ensembl chr18:20,944,612...21,111,813
JBrowse link
G RPE65 retinoid isomerohydrolase RPE65 IEP mRNA:increased expression:skin (human) RGD PMID:16181461 RGD:9495923 NCBI chr 1:68,428,822...68,449,954
Ensembl chr 1:68,428,822...68,451,103
JBrowse link
G RUNX1T1 RUNX1 partner transcriptional co-repressor 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 8:91,954,967...92,103,385
Ensembl chr 8:91,954,972...92,103,385
JBrowse link
G SCAMP5 secretory carrier membrane protein 5 EXP CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr15:74,995,563...75,021,495
Ensembl chr15:74,957,219...75,021,495
JBrowse link
G SETBP1 SET binding protein 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr18:44,680,073...45,068,510
Ensembl chr18:44,680,173...45,068,510
JBrowse link
G SH3BP4 SH3 domain binding protein 4 EXP CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 2:234,952,017...235,055,714
Ensembl chr 2:234,952,017...235,055,714
JBrowse link
G SHH sonic hedgehog signaling molecule IDA DNA, protein:hypermethylation, decreased expression:skin of body RGD PMID:23284750 RGD:12801452 NCBI chr 7:155,799,980...155,812,463
Ensembl chr 7:155,799,980...155,812,463
JBrowse link
G SHOX2 SHOX homeobox 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 3:158,095,905...158,106,420
Ensembl chr 3:158,095,905...158,106,420
JBrowse link
G SLC45A2 solute carrier family 45 member 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:19578363 NCBI chr 5:33,944,623...33,984,693
Ensembl chr 5:33,944,623...33,984,693
JBrowse link
G SLC7A2 solute carrier family 7 member 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 8:17,494,069...17,570,566
Ensembl chr 8:17,497,088...17,570,573
JBrowse link
G SLCO2A1 solute carrier organic anion transporter family member 2A1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 3:133,932,701...134,029,925
Ensembl chr 3:133,932,701...134,052,184
JBrowse link
G SMO smoothened, frizzled class receptor disease_progression IAGP
EXP
IEP
DNA:missense mutations:cds:p.W535L, p.R562Q (human)
ClinVar Annotator: match by term: Basal cell carcinoma, somatic
ClinVar Annotator: match by term: BCC1
CTD Direct Evidence: marker/mechanism
mRNA:increased expression:skin of body
ClinVar
OMIM
CTD
RGD
PMID:9422511 PMID:9581815 PMID:25741868 PMID:26950094 PMID:28492532 More... RGD:704355, RGD:12801453 NCBI chr 7:129,188,633...129,213,545
Ensembl chr 7:129,188,633...129,213,545
JBrowse link
G SNORA75 small nucleolar RNA, H/ACA box 75 EXP CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 2:231,455,800...231,455,936
Ensembl chr 2:231,455,800...231,455,936
JBrowse link
G SOBP sine oculis binding protein homolog EXP CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 6:107,490,117...107,661,306
Ensembl chr 6:107,490,106...107,661,306
JBrowse link
G SOX18 SRY-box transcription factor 18 EXP CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr20:64,047,582...64,049,639
Ensembl chr20:64,047,582...64,049,639
JBrowse link
G SOX4 SRY-box transcription factor 4 EXP CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 6:21,593,751...21,598,619
Ensembl chr 6:21,593,751...21,598,619
JBrowse link
G SPON2 spondin 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 4:1,166,932...1,208,844
Ensembl chr 4:1,166,932...1,208,962
JBrowse link
G SRGAP1 SLIT-ROBO Rho GTPase activating protein 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr12:63,844,700...64,162,217
Ensembl chr12:63,843,761...64,162,217
JBrowse link
G SSR3 signal sequence receptor subunit 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 3:156,539,553...156,555,117
Ensembl chr 3:156,539,553...156,555,149
JBrowse link
G STMN1 stathmin 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 1:25,884,179...25,906,880
Ensembl chr 1:25,884,181...25,906,991
JBrowse link
G SUFU SUFU negative regulator of hedgehog signaling EXP CTD Direct Evidence: marker/mechanism CTD PMID:26950094 NCBI chr10:102,502,819...102,633,535
Ensembl chr10:102,503,972...102,633,535
JBrowse link
G SYNJ1 synaptojanin 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr21:32,628,759...32,728,394
Ensembl chr21:32,628,759...32,728,040
JBrowse link
G TBX1 T-box transcription factor 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr22:19,756,703...19,783,593
Ensembl chr22:19,756,703...19,783,593
JBrowse link
G TERT telomerase reverse transcriptase EXP CTD Direct Evidence: marker/mechanism CTD PMID:19151717 NCBI chr 5:1,253,167...1,295,068
Ensembl chr 5:1,253,147...1,295,068
JBrowse link
G TGFB2 transforming growth factor beta 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 1:218,345,336...218,444,619
Ensembl chr 1:218,345,336...218,444,619
JBrowse link
G TGS1 trimethylguanosine synthase 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 8:55,773,446...55,826,445
Ensembl chr 8:55,773,446...55,826,445
JBrowse link
G TM4SF1 transmembrane 4 L six family member 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 3:149,369,022...149,377,649
Ensembl chr 3:149,369,022...149,377,692
JBrowse link
G TMCO3 transmembrane and coiled-coil domains 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr13:113,491,021...113,550,229
Ensembl chr13:113,491,021...113,554,590
JBrowse link
G TMEM104 transmembrane protein 104 EXP CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr17:74,776,499...74,839,753
Ensembl chr17:74,776,499...74,839,753
JBrowse link
G TMEM170A transmembrane protein 170A EXP CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr16:75,443,054...75,464,737
Ensembl chr16:75,443,054...75,465,497
JBrowse link
G TMEM176B transmembrane protein 176B EXP CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 7:150,791,301...150,801,360
Ensembl chr 7:150,791,285...150,801,360
JBrowse link
G TMEM19 transmembrane protein 19 EXP CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr12:71,686,082...71,705,047
Ensembl chr12:71,686,082...71,705,047
JBrowse link
G TMEM217 transmembrane protein 217 EXP CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 6:37,212,181...37,258,144
Ensembl chr 6:37,212,180...37,258,155
JBrowse link
G TP53 tumor protein p53 IAGP
EXP
IEP
DNA:mutations:cds:
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 chr17:7,668,421...7,687,490
Ensembl chr17:7,661,779...7,687,546
JBrowse link
G TRIL TLR4 interactor with leucine rich repeats EXP CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 7:28,953,358...28,958,330
Ensembl chr 7:28,953,358...28,958,330
JBrowse link
G TUBA1A tubulin alpha 1a EXP CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr12:49,184,795...49,189,080
Ensembl chr12:49,184,686...49,189,324
JBrowse link
G TYR tyrosinase EXP CTD Direct Evidence: marker/mechanism CTD PMID:18488027 NCBI chr11:89,177,875...89,295,759
Ensembl chr11:89,177,875...89,295,759
JBrowse link
G UBAC2 UBA domain containing 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr13:99,200,854...99,386,504
Ensembl chr13:99,200,774...99,386,504
JBrowse link
G UST uronyl 2-sulfotransferase EXP CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 6:148,747,030...149,076,990
Ensembl chr 6:148,747,030...149,076,990
JBrowse link
G VASH2 vasohibin 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 1:212,950,541...212,991,585
Ensembl chr 1:212,950,520...212,992,037
JBrowse link
G VCAN versican EXP CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 5:83,471,744...83,582,302
Ensembl chr 5:83,471,618...83,582,303
JBrowse link
G VDR vitamin D receptor IAGP
IEP
DNA:SNPs, haplotype: :rs731236, rs7975232 (human)
mRNA:increased expression:skin
RGD PMID:22213323 PMID:15077124 RGD:8158063, RGD:8158076 NCBI chr12:47,841,537...47,904,994
Ensembl chr12:47,841,537...47,943,048
JBrowse link
G VPS37D VPS37D subunit of ESCRT-I EXP CTD Direct Evidence: marker/mechanism CTD PMID:36428691 NCBI chr 7:73,665,347...73,672,110
Ensembl chr 7:73,667,831...73,672,112
JBrowse link
G WHR1 winged helix repair factor 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:26950094 NCBI chr 6:31,971,175...31,981,446
Ensembl chr 6:31,971,091...31,982,821
JBrowse link
G XPA XPA, DNA damage recognition and repair factor EXP CTD Direct Evidence: marker/mechanism CTD PMID:17687452 NCBI chr 9:97,654,398...97,697,340
Ensembl chr 9:97,674,909...97,697,340
JBrowse link
G XRCC3 X-ray repair cross complementing 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:16501254 NCBI chr14:103,697,617...103,715,451
Ensembl chr14:103,697,609...103,715,504
JBrowse link
G XRCC5 X-ray repair cross complementing 5 IEP protein:increased expression:epidermal cell, basal cell of epidermis (human) RGD PMID:16497868 RGD:8698657 NCBI chr 2:216,109,348...216,206,293
Ensembl chr 2:216,107,464...216,206,303
JBrowse link
G XRCC6 X-ray repair cross complementing 6 IEP protein:increased expression:epidermal cell, basal cell of epidermis (human) RGD PMID:16497868 RGD:8698657 NCBI chr22:41,621,295...41,664,041
Ensembl chr22:41,621,163...41,664,048
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 IAGP DNA:missense mutations, nonsense mutations RGD PMID:25395299 RGD:150523793 NCBI chr 9:95,442,980...95,516,971
Ensembl chr 9:95,442,980...95,517,057
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 IAGP DNA:mutations:multiple: RGD PMID:22522847 RGD:14402410 NCBI chr 3:179,148,126...179,240,093
Ensembl chr 3:179,148,114...179,240,093
JBrowse link
eccrine porocarcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KMT2D lysine methyltransferase 2D IAGP ClinVar Annotator: match by term: Eccrine porocarcinoma ClinVar PMID:28492532 NCBI chr12:49,018,978...49,060,794
Ensembl chr12:49,018,975...49,060,794
JBrowse link
G MRE11 MRE11 homolog, double strand break repair nuclease IAGP ClinVar Annotator: match by term: Eccrine porocarcinoma ClinVar NCBI chr11:94,415,570...94,512,412
Ensembl chr11:94,415,570...94,493,885
JBrowse link
G TBX3 T-box transcription factor 3 IAGP ClinVar Annotator: match by term: Eccrine porocarcinoma ClinVar NCBI chr12:114,670,255...114,684,175
Ensembl chr12:114,670,255...114,684,175
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 IAGP ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:28492532 NCBI chr12:57,723,761...57,742,161
Ensembl chr12:57,723,761...57,742,157
JBrowse link
G ARHGAP9 Rho GTPase activating protein 9 IAGP ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:28492532 NCBI chr12:57,472,269...57,488,824
Ensembl chr12:57,472,264...57,488,814
JBrowse link
G ARHGEF25 Rho guanine nucleotide exchange factor 25 IAGP ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:28492532 NCBI chr12:57,610,116...57,617,245
Ensembl chr12:57,610,180...57,617,245
JBrowse link
G B4GALNT1 beta-1,4-N-acetyl-galactosaminyltransferase 1 IAGP ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:28492532 NCBI chr12:57,623,409...57,633,201
Ensembl chr12:57,623,409...57,633,239
JBrowse link
G BAP1 BRCA1 associated deubiquitinase 1 IAGP ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:21874000 PMID:23684012 PMID:25741868 PMID:28492532 NCBI chr 3:52,401,008...52,410,008
Ensembl chr 3:52,401,008...52,410,008
JBrowse link
G BRAF B-Raf proto-oncogene, serine/threonine kinase IAGP ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 1
ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10
ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 1 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10
ClinVar
OMIM
PMID:16439621 PMID:16474404 PMID:17366577 PMID:17551924 PMID:17703371 More... NCBI chr 7:140,713,328...140,924,929
Ensembl chr 7:140,719,327...140,924,929
JBrowse link
G CDK4 cyclin dependent kinase 4 IAGP 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, 1 | 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: Melanoma, cutaneous malignant, susceptibility to, 3
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: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3
ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 1 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 2 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5
ClinVar Annotator: match by term: Cutaneous Malignant Melanoma, Dominant | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3
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: Familial melanoma | ClinVar Annotator: match by term: MELANOMA AND RENAL CELL CARCINOMA, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3
ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 1 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5
ClinVar
OMIM
PMID:5377176 PMID:7652577 PMID:8528263 PMID:8968104 PMID:9228064 More... NCBI chr12:57,747,727...57,752,310
Ensembl chr12:57,747,727...57,756,013
JBrowse link
G CDKN2A cyclin dependent kinase inhibitor 2A IAGP ClinVar Annotator: match by term: Familial melanoma
ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 1 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 2
ClinVar Annotator: match by term: 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: Cutaneous malignant melanoma 6 | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: MELANOMA AND RENAL CELL CARCINOMA, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3
ClinVar Annotator: match by term: 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, 2
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, 9
ClinVar Annotator: match by term: Cutaneous malignant melanoma 9 | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: MELANOMA AND RENAL CELL CARCINOMA, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 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: 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, 5
ClinVar Annotator: match by term: Hereditary cutaneous melanoma
ClinVar
OMIM
PMID:539244 PMID:649266 PMID:865368 PMID:1038976 PMID:2319082 More... NCBI chr 9:21,967,752...21,995,324
Ensembl chr 9:21,967,752...21,995,301
JBrowse link
G CDKN2A-AS1 CDKN2A antisense RNA 1 IAGP ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:28492532 NCBI chr 9:21,967,139...21,967,754
Ensembl chr 9:21,959,833...21,967,755
JBrowse link
G CDKN2B cyclin dependent kinase inhibitor 2B IAGP ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:9622062 PMID:28492532 NCBI chr 9:22,002,903...22,009,313
Ensembl chr 9:22,002,903...22,009,305
JBrowse link
G CDKN2B-AS1 CDKN2B antisense RNA 1 IAGP ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:9622062 PMID:28492532 NCBI chr 9:21,994,791...22,128,142
Ensembl chr 9:21,994,139...22,212,895
JBrowse link
G CYP27B1 cytochrome P450 family 27 subfamily B member 1 IAGP ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:28492532 NCBI chr12:57,762,334...57,767,078
Ensembl chr12:57,762,334...57,768,986
JBrowse link
G DCTN2 dynactin subunit 2 IAGP ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:28492532 NCBI chr12:57,530,051...57,547,192
Ensembl chr12:57,529,633...57,547,224
JBrowse link
G DDIT3 DNA damage inducible transcript 3 IAGP ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:28492532 NCBI chr12:57,516,588...57,520,517
Ensembl chr12:57,516,588...57,521,737
JBrowse link
G DNAH1 dynein axonemal heavy chain 1 IAGP ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:21874000 PMID:23684012 PMID:25741868 PMID:28492532 NCBI chr 3:52,310,920...52,400,492
Ensembl chr 3:52,316,319...52,400,492
JBrowse link
G DTX3 deltex E3 ubiquitin ligase 3 IAGP ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:28492532 NCBI chr12:57,604,824...57,609,802
Ensembl chr12:57,604,622...57,609,804
JBrowse link
G EEF1AKMT3 EEF1A lysine methyltransferase 3 IAGP ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:28492532 NCBI chr12:57,772,614...57,782,541
Ensembl chr12:57,771,492...57,782,541
JBrowse link
G FANCA FA complementation group A IAGP ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 ClinVar PMID:28492532 NCBI chr16:89,737,549...89,816,647
Ensembl chr16:89,726,683...89,816,977
JBrowse link
G GLI1 GLI family zinc finger 1 IAGP ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:28492532 NCBI chr12:57,459,785...57,472,268
Ensembl chr12:57,459,785...57,472,268
JBrowse link
G INHBC inhibin subunit beta C IAGP ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:28492532 NCBI chr12:57,434,784...57,452,062
Ensembl chr12:57,434,784...57,452,062
JBrowse link
G INHBE inhibin subunit beta E IAGP ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:28492532 NCBI chr12:57,455,307...57,458,025
Ensembl chr12:57,452,323...57,459,280
JBrowse link
G KIF5A kinesin family member 5A IAGP ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:28492532 NCBI chr12:57,550,044...57,586,633
Ensembl chr12:57,546,026...57,586,633
JBrowse link
G KLC1 kinesin light chain 1 IAGP ClinVar Annotator: match by term: Cutaneous malignant melanoma 6 ClinVar PMID:11059748 PMID:28492532 NCBI chr14:103,629,211...103,701,544
Ensembl chr14:103,561,896...103,714,249
JBrowse link
G LOC107988030 MITF-M promoter region IAGP ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 8 ClinVar PMID:25741868 NCBI chr 3:69,934,398...69,936,727 JBrowse link
G LOC110806263 TERT 5' regulatory region IAGP 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: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 9
ClinVar PMID:20871597 PMID:22037553 PMID:23066086 PMID:23348503 PMID:23535731 More... NCBI chr 5:1,294,628...1,298,988 JBrowse link
G LOC130001603 ATAC-STARR-seq lymphoblastoid silent region 19811 IAGP ClinVar Annotator: match by term: Familial melanoma
ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 2
ClinVar PMID:7881419 PMID:8570179 PMID:8653684 PMID:8727306 PMID:9425228 More... NCBI chr 9:21,974,815...21,974,864 JBrowse link
G LOC130001604 ATAC-STARR-seq lymphoblastoid silent region 19812 IAGP ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:9622062 PMID:15146471 PMID:28492532 NCBI chr 9:21,975,085...21,975,184 JBrowse link
G LOC130001605 ATAC-STARR-seq lymphoblastoid active region 28244 IAGP ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:9622062 PMID:15146471 PMID:28492532 NCBI chr 9:21,975,365...21,975,414 JBrowse link
G LOC130008148 ATAC-STARR-seq lymphoblastoid silent region 4588 IAGP ClinVar Annotator: match by term: Familial melanoma
ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3
ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3
ClinVar PMID:9311594 PMID:9536098 PMID:10398427 PMID:11828258 PMID:14621993 More... NCBI chr12:57,751,460...57,751,599 JBrowse link
G LOC130062899 ATAC-STARR-seq lymphoblastoid active region 13597 IAGP ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 1
ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 1 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5
ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:25778705 PMID:26467025 More... NCBI chr19:1,223,046...1,223,255 JBrowse link
G LRP1 LDL receptor related protein 1 IAGP ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:28492532 NCBI chr12:57,128,483...57,213,361
Ensembl chr12:57,128,483...57,213,361
JBrowse link
G MARCHF9 membrane associated ring-CH-type finger 9 IAGP ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:28492532 NCBI chr12:57,755,103...57,760,411
Ensembl chr12:57,755,103...57,760,411
JBrowse link
G MARS1 methionyl-tRNA synthetase 1 IAGP ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:28492532 NCBI chr12:57,488,068...57,516,652
Ensembl chr12:57,475,445...57,517,569
JBrowse link
G MBD6 methyl-CpG binding domain protein 6 IAGP ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:28492532 NCBI chr12:57,520,715...57,531,545
Ensembl chr12:57,520,710...57,530,148
JBrowse link
G MC1R melanocortin 1 receptor IAGP ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5
ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5
ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5
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, 1 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5
ClinVar
OMIM
PMID:7581459 PMID:8605020 PMID:8894704 PMID:8944016 PMID:8990005 More... NCBI chr16:89,918,862...89,920,972
Ensembl chr16:89,912,119...89,920,973
JBrowse link
G METTL1 methyltransferase 1, tRNA methylguanosine IAGP ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:28492532 NCBI chr12:57,768,471...57,772,105
Ensembl chr12:57,768,471...57,772,119
JBrowse link
G MIR616 microRNA 616 IAGP ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:28492532 NCBI chr12:57,519,163...57,519,259
Ensembl chr12:57,519,163...57,519,259
JBrowse link
G MIR6759 microRNA 6759 IAGP ClinVar Annotator: match by term: Familial melanoma
ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3
ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3
ClinVar PMID:9536098 PMID:17576681 PMID:28492532 NCBI chr12:57,748,618...57,748,682
Ensembl chr12:57,748,618...57,748,682
JBrowse link
G MITF melanocyte inducing transcription factor susceptibility IAGP 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: Familial melanoma | ClinVar Annotator: match by term: MELANOMA AND RENAL CELL CARCINOMA, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 8
ClinVar Annotator: match by term: MELANOMA AND RENAL CELL CARCINOMA, SUSCEPTIBILITY TO | 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, 8
ClinVar Annotator: match by term: Familial melanoma | 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 3:69,739,464...69,968,332
Ensembl chr 3:69,739,456...69,968,336
JBrowse link
G NDUFA4L2 NDUFA4 mitochondrial complex associated like 2 IAGP ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:28492532 NCBI chr12:57,234,903...57,240,762
Ensembl chr12:57,234,903...57,240,715
JBrowse link
G NXPH4 neurexophilin 4 IAGP ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 ClinVar PMID:28492532 NCBI chr12:57,216,794...57,226,449
Ensembl chr12:57,216,794...57,226,449
JBrowse link
G OS9 OS9 endoplasmic reticulum lectin IAGP ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:28492532 NCBI chr12:57,694,132...57,721,557
Ensembl chr12:57,693,841...57,728,342
JBrowse link
G PIP4K2C phosphatidylinositol-5-phosphate 4-kinase type 2 gamma IAGP ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 ClinVar PMID:28492532 NCBI chr12:57,591,192...57,603,418
Ensembl chr12:57,591,174...57,603,418
JBrowse link
G POT1 protection of telomeres 1 IAGP ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10
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, 9 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 1 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 8
ClinVar Annotator: match by term: 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, 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, 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, 3 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 8 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 9
ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 1 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 2 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 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, 1 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5
ClinVar
OMIM
PMID:9536098 PMID:16199547 PMID:17576681 PMID:19461895 PMID:19763152 More... NCBI chr 7:124,822,386...124,929,825
Ensembl chr 7:124,822,386...124,929,983
JBrowse link
G PTEN phosphatase and tensin homolog IAGP ClinVar Annotator: match by term: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 1 ClinVar PMID:24033266 PMID:24055113 PMID:25741868 PMID:25980754 PMID:28492532 More... NCBI chr10:87,863,625...87,971,930
Ensembl chr10:87,862,638...87,971,930
JBrowse link
G R3HDM2 R3H domain containing 2 IAGP ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:28492532 NCBI chr12:57,253,764...57,431,141
Ensembl chr12:57,253,762...57,431,043
JBrowse link
G SHMT2 serine hydroxymethyltransferase 2 IAGP ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:28492532 NCBI chr12:57,229,711...57,234,935
Ensembl chr12:57,229,573...57,234,935
JBrowse link
G SPIRE2 spire type actin nucleation factor 2 IAGP ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 ClinVar PMID:28492532 NCBI chr16:89,828,475...89,871,319
Ensembl chr16:89,818,179...89,871,319
JBrowse link
G STAC3 SH3 and cysteine rich domain 3 IAGP ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:28492532 NCBI chr12:57,243,458...57,251,187
Ensembl chr12:57,243,453...57,251,188
JBrowse link
G STK11 serine/threonine kinase 11 IAGP ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 1
ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10
ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 1 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10
ClinVar
OMIM
PMID:9536098 PMID:9887330 PMID:10201537 PMID:10208439 PMID:10676634 More... NCBI chr19:1,205,778...1,228,431
Ensembl chr19:1,177,558...1,228,431
JBrowse link
G TCF25 TCF25 ribosome quality control complex subunit IAGP ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 ClinVar PMID:28492532 NCBI chr16:89,873,592...89,911,379
Ensembl chr16:89,873,570...89,913,627
JBrowse link
G TERT telomerase reverse transcriptase IAGP 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: 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
OMIM
ClinVar
PMID:15814878 PMID:19561322 PMID:20301779 PMID:20871597 PMID:21436073 More... NCBI chr 5:1,253,167...1,295,068
Ensembl chr 5:1,253,147...1,295,068
JBrowse link
G TP53 tumor protein p53 IAGP ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:12826609 PMID:25741868 PMID:28492532 PMID:29979965 PMID:30224644 NCBI chr17:7,668,421...7,687,490
Ensembl chr17:7,661,779...7,687,546
JBrowse link
G TSFM Ts translation elongation factor, mitochondrial IAGP ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:28492532 NCBI chr12:57,782,787...57,802,856
Ensembl chr12:57,782,761...57,808,071
JBrowse link
G TSPAN31 tetraspanin 31 IAGP ClinVar Annotator: match by term: Familial melanoma
ClinVar Annotator: match by term: Cutaneous Malignant Melanoma, Dominant | ClinVar Annotator: match by term: MELANOMA AND RENAL CELL CARCINOMA, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3
ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3
ClinVar Annotator: match by term: Cutaneous Malignant Melanoma, Dominant | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3
ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3
ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 1 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3
ClinVar Annotator: match by term: Cutaneous malignant melanoma 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, 9 | 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 PMID:9536098 PMID:17576681 PMID:20668451 PMID:21520333 PMID:23718828 More... NCBI chr12:57,745,039...57,750,219
Ensembl chr12:57,738,013...57,750,219
JBrowse link
G TYR tyrosinase IAGP 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 chr11:89,177,875...89,295,759
Ensembl chr11:89,177,875...89,295,759
JBrowse link
G XRCC3 X-ray repair cross complementing 3 IAGP ClinVar Annotator: match by term: Cutaneous malignant melanoma 6 ClinVar
OMIM
PMID:11059748 PMID:28492532 NCBI chr14:103,697,617...103,715,451
Ensembl chr14:103,697,609...103,715,504
JBrowse link
Ferguson-Smith tumor term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC130002223 ATAC-STARR-seq lymphoblastoid silent region 20124 IAGP ClinVar Annotator: match by term: Ferguson-Smith type epithelioma ClinVar PMID:25741868 NCBI chr 9:99,104,641...99,105,240 JBrowse link
G TGFBR1 transforming growth factor beta receptor 1 EXP
IAGP
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Multiple self-healing squamous epithelioma
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 9:99,103,647...99,154,192
Ensembl chr 9:99,104,038...99,154,192
JBrowse link
keratoacanthoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NOTCH1 notch receptor 1 IAGP ClinVar Annotator: match by term: Keratoacanthoma ClinVar PMID:27283355 NCBI chr 9:136,494,433...136,546,048
Ensembl chr 9:136,494,433...136,546,048
JBrowse link
G NOTCH2 notch receptor 2 IAGP ClinVar Annotator: match by term: Keratoacanthoma ClinVar PMID:27283355 NCBI chr 1:119,911,553...120,069,662
Ensembl chr 1:119,911,553...120,100,779
JBrowse link
G PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha IAGP ClinVar Annotator: match by term: Keratoacanthoma ClinVar PMID:22949682 PMID:23246288 PMID:25741868 PMID:27283355 PMID:28151489 More... NCBI chr 3:179,148,126...179,240,093
Ensembl chr 3:179,148,114...179,240,093
JBrowse link
Merkel cell carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CD68 CD68 molecule IEP protein:increased expression:tumor (human) RGD PMID:22050913 RGD:40925916 NCBI chr17:7,579,638...7,582,111
Ensembl chr17:7,579,491...7,582,111
JBrowse link
G FGFR3 fibroblast growth factor receptor 3 IEP mRNA:decreased expression:skin (human) RGD PMID:28359267 RGD:38500206 NCBI chr 4:1,793,293...1,808,867
Ensembl chr 4:1,793,293...1,808,872
JBrowse link
G MYC MYC proto-oncogene, bHLH transcription factor EXP CTD Direct Evidence: marker/mechanism CTD PMID:25277525 NCBI chr 8:127,735,434...127,742,951
Ensembl chr 8:127,735,434...127,742,951
JBrowse link
G SPA17 sperm autoantigenic protein 17 IEP mRNA,protein:increased expression:nucleus RGD PMID:31218705 RGD:27226803 NCBI chr11:124,673,904...124,697,518
Ensembl chr11:124,673,844...124,697,518
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 IAGP ClinVar Annotator: match by term: Basal cell carcinoma, multiple ClinVar PMID:24038909 PMID:25741868 PMID:28492532 NCBI chr 5:87,311,471...87,412,930
Ensembl chr 5:87,318,416...87,413,029
JBrowse link
G LOC100507346 uncharacterized LOC100507346 IAGP ClinVar Annotator: match by term: Basal cell carcinoma, multiple ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 9:95,463,609...95,470,019 JBrowse link
G LOC130002133 ATAC-STARR-seq lymphoblastoid silent region 20071 IAGP ClinVar Annotator: match by term: Basal cell carcinoma, multiple ClinVar PMID:25741868 PMID:26467025 PMID:28492532 PMID:30093976 NCBI chr 9:95,508,202...95,508,521 JBrowse link
G PTCH1 patched 1 IAGP ClinVar Annotator: match by term: Basal cell carcinoma, multiple ClinVar PMID:22703879 PMID:24728327 PMID:25637381 PMID:25741868 PMID:26467025 More... NCBI chr 9:95,442,980...95,516,971
Ensembl chr 9:95,442,980...95,517,057
JBrowse link
G PTCH2 patched 2 IAGP ClinVar Annotator: match by term: Basal cell carcinoma, multiple ClinVar PMID:25741868 PMID:28492532 PMID:31945512 NCBI chr 1:44,819,845...44,843,253
Ensembl chr 1:44,819,154...44,843,253
JBrowse link
G RASA1 RAS p21 protein activator 1 IAGP ClinVar Annotator: match by term: Basal cell carcinoma, multiple ClinVar PMID:22200646 PMID:23801933 PMID:24038909 PMID:25741868 PMID:28492532 NCBI chr 5:87,267,883...87,391,916
Ensembl chr 5:87,267,883...87,391,931
JBrowse link
G SMO smoothened, frizzled class receptor IAGP ClinVar Annotator: match by term: Basal cell carcinoma, multiple ClinVar PMID:25741868 PMID:28492532 NCBI chr 7:129,188,633...129,213,545
Ensembl chr 7:129,188,633...129,213,545
JBrowse link
Multiple Self-healing Palmoplantar Carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NLRP1 NLR family pyrin domain containing 1 IAGP ClinVar Annotator: match by term: Palmoplantar carcinoma, multiple self-healing ClinVar
OMIM
PMID:16199547 PMID:17377159 PMID:23349227 PMID:24033266 PMID:25050600 More... NCBI chr17:5,501,396...5,584,509
Ensembl chr17:5,499,415...5,619,424
JBrowse link
nevoid basal cell carcinoma syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AOPEP aminopeptidase O (putative) IAGP ClinVar Annotator: match by term: Gorlin syndrome ClinVar PMID:17703323 PMID:17924555 PMID:22382802 PMID:28492532 NCBI chr 9:94,726,699...95,150,224
Ensembl chr 9:94,726,604...95,151,793
JBrowse link
G ARL3 ARF like GTPase 3 IAGP ClinVar Annotator: match by term: Gorlin syndrome ClinVar PMID:12068298 PMID:22508808 PMID:25403219 PMID:28492532 PMID:31639285 NCBI chr10:102,673,731...102,714,397
Ensembl chr10:102,673,731...102,714,397
JBrowse link
G CYP17A1 cytochrome P450 family 17 subfamily A member 1 IAGP ClinVar Annotator: match by term: Gorlin syndrome ClinVar PMID:12068298 PMID:22508808 PMID:25403219 PMID:28492532 PMID:31639285 NCBI chr10:102,830,531...102,837,413
Ensembl chr10:102,830,531...102,837,472
JBrowse link
G FANCC FA complementation group C IAGP ClinVar Annotator: match by term: Gorlin syndrome ClinVar PMID:16301862 PMID:16419085 PMID:17703323 PMID:17924555 PMID:22382802 More... NCBI chr 9:95,099,054...95,317,709
Ensembl chr 9:95,099,054...95,426,796
JBrowse link
G GLI1 GLI family zinc finger 1 IEP RGD PMID:15308259 RGD:12801443 NCBI chr12:57,459,785...57,472,268
Ensembl chr12:57,459,785...57,472,268
JBrowse link
G GLI2 GLI family zinc finger 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:16936257 NCBI chr 2:120,735,868...120,992,653
Ensembl chr 2:120,735,623...120,992,653
JBrowse link
G LOC100507346 uncharacterized LOC100507346 IAGP ClinVar Annotator: match by term: Gorlin syndrome
ClinVar Annotator: match by term: Basal cell nevus syndrome | ClinVar Annotator: match by term: Gorlin syndrome
ClinVar Annotator: match by term: MULTIPLE BASAL CELL NEVI, ODONTOGENIC KERATOCYSTS, AND SKELETAL ANOMALIES
ClinVar PMID:1850296 PMID:8658145 PMID:8681379 PMID:8981943 PMID:9536098 More... NCBI chr 9:95,463,609...95,470,019 JBrowse link
G LOC105376156 uncharacterized LOC105376156 IAGP ClinVar Annotator: match by term: Gorlin syndrome ClinVar PMID:17703323 PMID:17924555 PMID:22382802 PMID:28492532 NCBI chr 9:95,386,495...95,426,830
Ensembl chr 9:95,099,054...95,426,796
JBrowse link
G LOC110121043 VISTA enhancer hs1258 IAGP ClinVar Annotator: match by term: Gorlin syndrome ClinVar PMID:16301862 PMID:16419085 PMID:17703323 PMID:17924555 PMID:19557015 More... NCBI chr 9:95,495,577...95,497,123 JBrowse link
G LOC124310595 Sharpr-MPRA regulatory region 10736 IAGP ClinVar Annotator: match by term: Gorlin syndrome ClinVar PMID:17703323 PMID:17924555 PMID:22382802 PMID:28492532 NCBI chr 9:95,129,927...95,130,221 JBrowse link
G LOC124310596 Sharpr-MPRA regulatory region 8238 IAGP ClinVar Annotator: match by term: Gorlin syndrome ClinVar PMID:17703323 PMID:17924555 PMID:22382802 PMID:28492532 NCBI chr 9:95,131,367...95,131,661 JBrowse link
G LOC124310597 Sharpr-MPRA regulatory region 1665 IAGP ClinVar Annotator: match by term: Gorlin syndrome ClinVar PMID:17703323 PMID:17924555 PMID:22382802 PMID:28492532 NCBI chr 9:95,193,107...95,193,401 JBrowse link
G LOC124310598 Sharpr-MPRA regulatory region 1693 IAGP ClinVar Annotator: match by term: Gorlin syndrome ClinVar PMID:17703323 PMID:17924555 PMID:22382802 PMID:28492532 NCBI chr 9:95,268,727...95,269,021 JBrowse link
G LOC124310599 Sharpr-MPRA regulatory region 1060 IAGP ClinVar Annotator: match by term: Gorlin syndrome ClinVar PMID:17703323 PMID:17924555 PMID:22382802 PMID:28492532 NCBI chr 9:95,366,807...95,367,101 JBrowse link
G LOC124310600 H3K4me1 hESC enhancer GRCh37_chr9:98173918-98174537 IAGP ClinVar Annotator: match by term: Gorlin syndrome ClinVar PMID:17703323 PMID:17924555 PMID:22382802 PMID:28492532 NCBI chr 9:95,411,636...95,412,255 JBrowse link
G LOC124416895 Sharpr-MPRA regulatory region 236 IAGP ClinVar Annotator: match by term: Gorlin syndrome ClinVar PMID:22508808 PMID:25403219 PMID:28492532 NCBI chr10:102,504,572...102,504,866 JBrowse link
G LOC130002126 ATAC-STARR-seq lymphoblastoid silent region 20063 IAGP ClinVar Annotator: match by term: Gorlin syndrome ClinVar PMID:17703323 PMID:17924555 PMID:22382802 PMID:28492532 NCBI chr 9:95,116,447...95,116,526 JBrowse link
G LOC130002127 ATAC-STARR-seq lymphoblastoid active region 28637 IAGP ClinVar Annotator: match by term: Gorlin syndrome ClinVar PMID:17703323 PMID:17924555 PMID:22382802 PMID:28492532 NCBI chr 9:95,313,167...95,313,226 JBrowse link
G LOC130002128 ATAC-STARR-seq lymphoblastoid silent region 20064 IAGP ClinVar Annotator: match by term: Gorlin syndrome ClinVar PMID:17703323 PMID:17924555 PMID:22382802 PMID:28492532 NCBI chr 9:95,317,061...95,317,380 JBrowse link
G LOC130002129 ATAC-STARR-seq lymphoblastoid silent region 20065 IAGP ClinVar Annotator: match by term: Gorlin syndrome ClinVar PMID:17703323 PMID:17924555 PMID:22382802 PMID:28492532 NCBI chr 9:95,426,698...95,427,087 JBrowse link
G LOC130002130 ATAC-STARR-seq lymphoblastoid silent region 20067 IAGP ClinVar Annotator: match by term: Gorlin syndrome ClinVar PMID:16301862 PMID:16419085 PMID:17703323 PMID:17924555 PMID:19557015 More... NCBI chr 9:95,505,892...95,505,951 JBrowse link
G LOC130002131 ATAC-STARR-seq lymphoblastoid silent region 20068 IAGP ClinVar Annotator: match by term: Gorlin syndrome ClinVar PMID:16301862 PMID:16419085 PMID:17703323 PMID:17924555 PMID:19557015 More... NCBI chr 9:95,506,112...95,506,171 JBrowse link
G LOC130002132 ATAC-STARR-seq lymphoblastoid silent region 20069 IAGP ClinVar Annotator: match by term: Gorlin syndrome ClinVar PMID:9536098 PMID:16301862 PMID:16419085 PMID:17576681 PMID:17703323 More... NCBI chr 9:95,506,602...95,506,841 JBrowse link
G LOC130002133 ATAC-STARR-seq lymphoblastoid silent region 20071 IAGP ClinVar Annotator: match by term: Gorlin syndrome
ClinVar Annotator: match by term: Basal cell nevus syndrome | ClinVar Annotator: match by term: Gorlin syndrome
ClinVar PMID:16301862 PMID:16419085 PMID:17703323 PMID:17924555 PMID:19557015 More... NCBI chr 9:95,508,202...95,508,521 JBrowse link
G LOC130004614 ATAC-STARR-seq lymphoblastoid silent region 2764 IAGP ClinVar Annotator: match by term: Gorlin syndrome
ClinVar Annotator: match by term: Basal cell nevus syndrome | ClinVar Annotator: match by term: Gorlin syndrome
ClinVar PMID:19833601 PMID:22508808 PMID:25403219 PMID:25741868 PMID:26467025 More... NCBI chr10:102,503,788...102,504,257 JBrowse link
G LOC130004615 ATAC-STARR-seq lymphoblastoid active region 3939 IAGP ClinVar Annotator: match by term: Gorlin syndrome ClinVar PMID:22508808 PMID:25403219 PMID:28492532 NCBI chr10:102,512,167...102,512,306 JBrowse link
G LOC130004616 ATAC-STARR-seq lymphoblastoid active region 3940 IAGP ClinVar Annotator: match by term: Gorlin syndrome ClinVar PMID:22508808 PMID:25403219 PMID:28492532 NCBI chr10:102,537,177...102,537,336 JBrowse link
G LOC132089731 Neanderthal introgressed variant-containing enhancer experimental_110513 IAGP ClinVar Annotator: match by term: Gorlin syndrome ClinVar PMID:17703323 PMID:17924555 PMID:22382802 PMID:28492532 NCBI chr 9:95,178,246...95,178,415 JBrowse link
G LOC132089732 Neanderthal introgressed variant-containing enhancer experimental_110548 IAGP ClinVar Annotator: match by term: Gorlin syndrome ClinVar PMID:17703323 PMID:17924555 PMID:22382802 PMID:28492532 NCBI chr 9:95,241,261...95,241,430 JBrowse link
G LOC132089733 Neanderthal introgressed variant-containing enhancer experimental_110630 IAGP ClinVar Annotator: match by term: Gorlin syndrome ClinVar PMID:17703323 PMID:17924555 PMID:22382802 PMID:28492532 NCBI chr 9:95,410,157...95,410,326 JBrowse link
G PTCH1 patched 1 IAGP
ISS
EXP
ISO
IEP
DNA:mutations:exon, intron:multiple
ClinVar Annotator: match by term: Gorlin syndrome
ClinVar Annotator: match by term: Basal cell nevus syndrome | ClinVar Annotator: match by term: Gorlin syndrome
ClinVar Annotator: match by term: MULTIPLE BASAL CELL NEVI, ODONTOGENIC KERATOCYSTS, AND SKELETAL ANOMALIES
CTD Direct Evidence: marker/mechanism
DNA: splice-site mutation :exon
DNA: nonsense mutation:exon:p.W399* (human)
DNA:missense mutation:exon:p.E237EK (897G>A) (human)
ClinVar
MouseDO
CTD
RGD
PMID:1347096 PMID:1850296 PMID:8302318 PMID:8658145 PMID:8681379 More... RGD:12798568, RGD:13207424, RGD:13207421, RGD:12801443, RGD:12801422 NCBI chr 9:95,442,980...95,516,971
Ensembl chr 9:95,442,980...95,517,057
JBrowse link
G PTCH2 patched 2 IAGP ClinVar Annotator: match by term: Gorlin syndrome
ClinVar Annotator: match by term: Basal cell nevus syndrome | ClinVar Annotator: match by term: Gorlin syndrome
ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:18285427 PMID:23951062 More... NCBI chr 1:44,819,845...44,843,253
Ensembl chr 1:44,819,154...44,843,253
JBrowse link
G PTH parathyroid hormone EXP CTD Direct Evidence: marker/mechanism CTD PMID:24803734 NCBI chr11:13,492,054...13,496,181
Ensembl chr11:13,492,054...13,496,181
JBrowse link
G SFXN2 sideroflexin 2 IAGP ClinVar Annotator: match by term: Gorlin syndrome ClinVar PMID:12068298 PMID:22508808 PMID:25403219 PMID:28492532 PMID:31639285 NCBI chr10:102,714,636...102,743,492
Ensembl chr10:102,714,538...102,743,492
JBrowse link
G SHH sonic hedgehog signaling molecule ISO
ISS
MouseDO
RGD
PMID:9115210 RGD:12802345 NCBI chr 7:155,799,980...155,812,463
Ensembl chr 7:155,799,980...155,812,463
JBrowse link
G SMO smoothened, frizzled class receptor IEP RGD PMID:15308259 RGD:12801443 NCBI chr 7:129,188,633...129,213,545
Ensembl chr 7:129,188,633...129,213,545
JBrowse link
G SUFU SUFU negative regulator of hedgehog signaling IAGP
ISS
ClinVar Annotator: match by term: Gorlin syndrome
ClinVar Annotator: match by term: Basal cell nevus syndrome | ClinVar Annotator: match by term: Gorlin syndrome
OMIM:109400
ClinVar
MouseDO
PMID:9536098 PMID:12068298 PMID:16199547 PMID:17102621 PMID:17576681 More... NCBI chr10:102,502,819...102,633,535
Ensembl chr10:102,503,972...102,633,535
JBrowse link
G TRIM8 tripartite motif containing 8 IAGP ClinVar Annotator: match by term: Gorlin syndrome ClinVar PMID:12068298 PMID:22508808 PMID:25403219 PMID:28492532 PMID:31639285 NCBI chr10:102,644,479...102,658,319
Ensembl chr10:102,642,503...102,662,789
JBrowse link
G WBP1L WW domain binding protein 1 like IAGP ClinVar Annotator: match by term: Gorlin syndrome ClinVar PMID:12068298 PMID:22508808 PMID:25403219 PMID:28492532 PMID:31639285 NCBI chr10:102,743,948...102,816,262
Ensembl chr10:102,743,948...102,834,516
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 LOC100507346 uncharacterized LOC100507346 IAGP ClinVar Annotator: match by term: Basal cell nevus syndrome 1 ClinVar PMID:8658145 PMID:8681379 PMID:16301862 PMID:16419085 PMID:24814739 More... NCBI chr 9:95,463,609...95,470,019 JBrowse link
G LOC130002133 ATAC-STARR-seq lymphoblastoid silent region 20071 IAGP ClinVar Annotator: match by term: Basal cell nevus syndrome 1 ClinVar PMID:28492532 NCBI chr 9:95,508,202...95,508,521 JBrowse link
G PTCH1 patched 1 IAGP DNA:mutations:multiple
ClinVar Annotator: match by term: Basal cell nevus syndrome 1
ClinVar
OMIM
RGD
PMID:8658145 PMID:8681379 PMID:12900905 PMID:16199547 PMID:16301862 More... RGD:407424595 NCBI chr 9:95,442,980...95,516,971
Ensembl chr 9:95,442,980...95,517,057
JBrowse link
G PTCH2 patched 2 IAGP ClinVar Annotator: match by term: Basal cell nevus syndrome 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:44,819,845...44,843,253
Ensembl chr 1:44,819,154...44,843,253
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 LOC130004614 ATAC-STARR-seq lymphoblastoid silent region 2764 IAGP ClinVar Annotator: match by term: Basal cell nevus syndrome 2 ClinVar PMID:19833601 PMID:22508808 PMID:25403219 PMID:28492532 PMID:29186568 More... NCBI chr10:102,503,788...102,504,257 JBrowse link
G SUFU SUFU negative regulator of hedgehog signaling IAGP ClinVar Annotator: match by term: NEVOID BASAL CELL CARCINOMA SYNDROME 2
ClinVar Annotator: match by term: Basal cell nevus syndrome 2
ClinVar
OMIM
PMID:12068298 PMID:19533801 PMID:19833601 PMID:21188540 PMID:22508808 More... NCBI chr10:102,502,819...102,633,535
Ensembl chr10:102,503,972...102,633,535
JBrowse link
skin melanoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AFF4 ALF transcription elongation factor 4 disease_progression IEP RGD PMID:33417923 RGD:155631266 NCBI chr 5:132,875,395...132,963,634
Ensembl chr 5:132,875,395...132,963,634
JBrowse link
G AGT angiotensinogen IEP protein:increased expression:serum RGD PMID:19394758 RGD:8548874 NCBI chr 1:230,702,523...230,745,583
Ensembl chr 1:230,690,776...230,745,576
JBrowse link
G ARHGAP44 Rho GTPase activating protein 44 severity IAGP DNA:SNP:intron: (rs72635537) (human) RGD PMID:28510328 RGD:401901274 NCBI chr17:12,789,498...12,991,643
Ensembl chr17:12,789,498...12,991,643
JBrowse link
G BAP1 BRCA1 associated deubiquitinase 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:25231345 PMID:26719535 NCBI chr 3:52,401,008...52,410,008
Ensembl chr 3:52,401,008...52,410,008
JBrowse link
G BIRC2 baculoviral IAP repeat containing 2 exacerbates HEP mRNA:increased expression:zone of skin (human) RGD PMID:31964418 RGD:153344516 NCBI chr11:102,347,214...102,378,670
Ensembl chr11:102,347,211...102,378,670
JBrowse link
G BRAF B-Raf proto-oncogene, serine/threonine kinase IAGP
EXP
ClinVar Annotator: match by term: Malignant melanoma of skin
ClinVar Annotator: match by term: DYSPLASTIC NEVUS SYNDROME, HEREDITARY
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:2500657 PMID:16439621 PMID:16474404 PMID:17366577 PMID:17551924 More... NCBI chr 7:140,713,328...140,924,929
Ensembl chr 7:140,719,327...140,924,929
JBrowse link
G BRCA2 BRCA2 DNA repair associated disease_progression IAGP DNA:SNP: :rs206118, rs3752447, rs10492396 (human) RGD PMID:25243787 RGD:11344896 NCBI chr13:32,315,077...32,400,268
Ensembl chr13:32,315,086...32,400,268
JBrowse link
G CCL2 C-C motif chemokine ligand 2 disease_progression IAGP DNA:SNP: :2578A>G (human) RGD PMID:17169533 RGD:9491398 NCBI chr17:34,255,285...34,257,203
Ensembl chr17:34,255,274...34,257,208
JBrowse link
G CD40 CD40 molecule disease_progression IEP RGD PMID:8952530 RGD:8547772 NCBI chr20:46,118,314...46,129,858
Ensembl chr20:46,118,271...46,129,863
JBrowse link
G CDK4 cyclin dependent kinase 4 IAGP
EXP
ClinVar Annotator: match by term: Cutaneous melanoma
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:5377176 PMID:7652577 PMID:8528263 PMID:8968104 PMID:9228064 More... NCBI chr12:57,747,727...57,752,310
Ensembl chr12:57,747,727...57,756,013
JBrowse link
G CDKN2A cyclin dependent kinase inhibitor 2A IAGP
EXP
DNA:frameshift mutations, deletions:cds:multiple (human)
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cutaneous melanoma
DNA:missense mutation:exon:p.P48L (human)
CTD
ClinVar
RGD
PMID:22080950 PMID:26619011 PMID:20653773 PMID:10338331 RGD:8552276, RGD:8552302 NCBI chr 9:21,967,752...21,995,324
Ensembl chr 9:21,967,752...21,995,301
JBrowse link
G CHAF1B chromatin assembly factor 1 subunit B severity IEP protein:increased expression:skin: RGD PMID:20178651 RGD:9587476 NCBI chr21:36,385,392...36,419,015
Ensembl chr21:36,385,392...36,419,015
JBrowse link
G CNR1 cannabinoid receptor 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:28131817 NCBI chr 6:88,139,864...88,167,349
Ensembl chr 6:88,139,864...88,166,347
JBrowse link
G CREB1 cAMP responsive element binding protein 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:29179997 NCBI chr 2:207,529,962...207,605,988
Ensembl chr 2:207,529,737...207,605,988
JBrowse link
G CTCF CCCTC-binding factor IAGP DNA:mutations:multiple (human) RGD PMID:27974201 RGD:151356739 NCBI chr16:67,562,526...67,639,185
Ensembl chr16:67,562,467...67,639,177
JBrowse link
G CTNNB1 catenin beta 1 IAGP ClinVar Annotator: match by term: Cutaneous melanoma ClinVar PMID:10192393 PMID:25741868 PMID:26619011 NCBI chr 3:41,199,505...41,240,443
Ensembl chr 3:41,194,741...41,260,096
JBrowse link
G DDR1 discoidin domain receptor tyrosine kinase 1 severity
treatment
IEP
IMP
protein:increased expression:skin lesion (human)
human cells in mouse model; DDR1-IN-1
RGD PMID:31271515 PMID:31271515 RGD:151347864, RGD:151347864 NCBI chr 6:30,880,970...30,900,156
Ensembl chr 6:30,876,421...30,900,156
JBrowse link
G DNMT3B DNA methyltransferase 3 beta disease_progression IEP RGD PMID:21081840 RGD:9589074 NCBI chr20:32,762,385...32,809,356
Ensembl chr20:32,762,385...32,809,359
JBrowse link
G EML1 EMAP like 1 disease_progression IAGP DNA:SNP: :rs10151787 (A>G) RGD PMID:34249459 RGD:597538489 NCBI chr14:99,737,722...99,942,060
Ensembl chr14:99,737,693...99,942,060
JBrowse link
G FANCA FA complementation group A disease_progression IAGP DNA:SNP: :rs62068372 (human) RGD PMID:25243787 RGD:11344896 NCBI chr16:89,737,549...89,816,647
Ensembl chr16:89,726,683...89,816,977
JBrowse link
G FANCD2 FA complementation group D2 IEP mRNA,protein:increased expression:skin,nucleus: RGD PMID:21697891 RGD:11046262 NCBI chr 3:10,026,437...10,101,932
Ensembl chr 3:10,026,370...10,101,932
JBrowse link
G FBXW7 F-box and WD repeat domain containing 7 IAGP ClinVar Annotator: match by term: Cutaneous melanoma | ClinVar Annotator: match by term: Malignant melanoma of skin ClinVar PMID:26619011 NCBI chr 4:152,320,544...152,536,092
Ensembl chr 4:152,320,544...152,536,092
JBrowse link
G GPX1 glutathione peroxidase 1 HEP mRNA:increased expression:skin of body (human) RGD PMID:29535818 RGD:152023655 NCBI chr 3:49,357,176...49,358,353
Ensembl chr 3:49,357,174...49,358,605
JBrowse link
G GRM1 glutamate metabotropic receptor 1 ISS OMIM:608035 | OMIM:612263 MouseDO NCBI chr 6:146,027,707...146,437,601
Ensembl chr 6:146,027,646...146,437,601
JBrowse link
G GSTM1 glutathione S-transferase mu 1 susceptibility IAGP DNA:deletion:: (human) RGD PMID:11352862 RGD:12792221 NCBI chr 1:109,687,817...109,693,745
Ensembl chr 1:109,687,814...109,709,039
JBrowse link
G GSTT1 glutathione S-transferase theta 1 susceptibility IAGP DNA:deletion:: (human) RGD PMID:11352862 RGD:12792221
G HIF1A hypoxia inducible factor 1 subunit alpha IEP protein:increased expression:epidermis (human) RGD PMID:19558170 RGD:8695922 NCBI chr14:61,695,513...61,748,258
Ensembl chr14:61,695,513...61,748,259
JBrowse link
G ICAM1 intercellular adhesion molecule 1 disease_progression IAGP DNA:missense mutation:exon:p.R241G (human) RGD PMID:16313300 RGD:8547698 NCBI chr19:10,271,120...10,286,615
Ensembl chr19:10,271,093...10,286,615
JBrowse link
G IDH1 isocitrate dehydrogenase (NADP(+)) 1 IAGP ClinVar Annotator: match by term: Malignant melanoma of skin ClinVar PMID:22160010 PMID:22397365 PMID:22417203 PMID:22898539 PMID:26619011 NCBI chr 2:208,236,227...208,255,071
Ensembl chr 2:208,236,229...208,266,074
JBrowse link
G JMJD6 jumonji domain containing 6, arginine demethylase and lysine hydroxylase EXP CTD Direct Evidence: marker/mechanism CTD PMID:30619488 NCBI chr17:76,712,836...76,726,606
Ensembl chr17:76,712,832...76,726,799
JBrowse link
G LOC126806658 BRD4-independent group 4 enhancer GRCh37_chr3:41265899-41267098 IAGP ClinVar Annotator: match by term: Malignant melanoma of skin
ClinVar Annotator: match by term: Cutaneous melanoma
ClinVar PMID:10192393 PMID:25741868 PMID:26619011 NCBI chr 3:41,224,408...41,225,607 JBrowse link
G LOC130062899 ATAC-STARR-seq lymphoblastoid active region 13597 IAGP ClinVar Annotator: match by term: DYSPLASTIC NEVUS SYNDROME, HEREDITARY ClinVar PMID:25741868 PMID:28492532 NCBI chr19:1,223,046...1,223,255 JBrowse link
G MC1R melanocortin 1 receptor EXP CTD Direct Evidence: marker/mechanism CTD NCBI chr16:89,918,862...89,920,972
Ensembl chr16:89,912,119...89,920,973
JBrowse link
G MIR21 microRNA 21 disease_progression IEP RNA:increased expression:skin (human) RGD PMID:26150475 RGD:11342032 NCBI chr17:59,841,266...59,841,337
Ensembl chr17:59,841,266...59,841,337
JBrowse link
G MITF melanocyte inducing transcription factor EXP CTD Direct Evidence: marker/mechanism CTD PMID:22012259 PMID:22080950 NCBI chr 3:69,739,464...69,968,332
Ensembl chr 3:69,739,456...69,968,336
JBrowse link
G MMP1 matrix metallopeptidase 1 disease_progression IAGP DNA:polymorphisms, haplotypes:promoter:multiple
DNA:SNPs, haplotype:promoter:multiple
RGD PMID:20655738 PMID:22198560 RGD:8549726, RGD:8549727 NCBI chr11:102,789,919...102,798,160
Ensembl chr11:102,789,401...102,798,160
JBrowse link
G MMP2 matrix metallopeptidase 2 severity IEP mRNA:increased expression:skin RGD PMID:20966734 PMID:12404291 PMID:18251742 RGD:8657055, RGD:13204786, RGD:8657075 NCBI chr16:55,478,830...55,506,691
Ensembl chr16:55,389,700...55,506,691
JBrowse link
G MMP9 matrix metallopeptidase 9 disease progression IAGP
IEP
DNA:SNP, missense mutations:promoter, cds:-1562C>T,p.R279Q, p.P574R (human) RGD PMID:17346338 PMID:12404291 RGD:8547886, RGD:13204786 NCBI chr20:46,008,908...46,016,561
Ensembl chr20:46,008,908...46,016,561
JBrowse link
G NAIP NLR family apoptosis inhibitory protein exacerbates HEP mRNA:increased expression:zone of skin (human) RGD PMID:31964418 RGD:153344516 NCBI chr 5:70,968,166...71,025,339
Ensembl chr 5:70,968,166...71,025,339
JBrowse link
G OCA2 OCA2 melanosomal transmembrane protein susceptibility IAGP 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 chr15:27,719,008...28,099,315
Ensembl chr15:27,754,875...28,099,315
JBrowse link
G PDCD4 programmed cell death 4 disease_progression IEP mRNA:decreased expression:skin (human) RGD PMID:26150475 RGD:11342032 NCBI chr10:110,871,928...110,900,006
Ensembl chr10:110,871,795...110,900,006
JBrowse link
G PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha IAGP 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: Malignant melanoma of skin
ClinVar PMID:15016963 PMID:15254419 PMID:15520168 PMID:15647370 PMID:15805248 More... NCBI chr 3:179,148,126...179,240,093
Ensembl chr 3:179,148,114...179,240,093
JBrowse link
G POT1 protection of telomeres 1 IAGP ClinVar Annotator: match by term: DYSPLASTIC NEVUS SYNDROME, HEREDITARY ClinVar PMID:24686846 PMID:25741868 PMID:26467025 PMID:28492532 PMID:30451293 More... NCBI chr 7:124,822,386...124,929,825
Ensembl chr 7:124,822,386...124,929,983
JBrowse link
G PTEN phosphatase and tensin homolog IAGP ClinVar Annotator: match by term: DYSPLASTIC NEVUS SYNDROME, HEREDITARY ClinVar PMID:24033266 PMID:24055113 PMID:25741868 PMID:25980754 PMID:28492532 More... NCBI chr10:87,863,625...87,971,930
Ensembl chr10:87,862,638...87,971,930
JBrowse link
G SLC45A2 solute carrier family 45 member 2 IAGP ClinVar Annotator: match by term: Malignant melanoma of skin ClinVar PMID:15714523 PMID:17044855 PMID:17999355 PMID:18563784 PMID:18683857 More... NCBI chr 5:33,944,623...33,984,693
Ensembl chr 5:33,944,623...33,984,693
JBrowse link
G STAT3 signal transducer and activator of transcription 3 disease_progression IEP RGD PMID:21876460 RGD:8694297 NCBI chr17:42,313,324...42,388,442
Ensembl chr17:42,313,324...42,388,568
JBrowse link
G STK11 serine/threonine kinase 11 IAGP
EXP
ClinVar Annotator: match by term: DYSPLASTIC NEVUS SYNDROME, HEREDITARY
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:25741868 PMID:26467025 PMID:26580448 PMID:28492532 PMID:29368341 More... NCBI chr19:1,205,778...1,228,431
Ensembl chr19:1,177,558...1,228,431
JBrowse link
G TERT telomerase reverse transcriptase EXP CTD Direct Evidence: marker/mechanism CTD NCBI chr 5:1,253,167...1,295,068
Ensembl chr 5:1,253,147...1,295,068
JBrowse link
G TP53 tumor protein p53 IAGP ClinVar Annotator: match by term: Malignant melanoma of skin
ClinVar Annotator: match by term: Cutaneous melanoma
ClinVar PMID:1565143 PMID:1565144 PMID:7651740 PMID:7707106 PMID:7885831 More... NCBI chr17:7,668,421...7,687,490
Ensembl chr17:7,661,779...7,687,546
JBrowse link
G TP73 tumor protein p73 HEP mRNA:increased expression:skin of body (human) RGD PMID:30420492 RGD:151347580 NCBI chr 1:3,652,516...3,736,201
Ensembl chr 1:3,652,516...3,736,201
JBrowse link
G TYR tyrosinase susceptibility IAGP DNA:missense mutation:cds:p.R402Q(human) RGD PMID:21906913 RGD:8694390 NCBI chr11:89,177,875...89,295,759
Ensembl chr11:89,177,875...89,295,759
JBrowse link
G VDR vitamin D receptor susceptibility
no_association
IAGP DNA:missense mutation, silent mutation: :p,M1T, p.I352 (c.1056T>C) (rs2228570, rs731236) (human)
DNA:SNPs: :multiple
RGD PMID:16990805 PMID:19615888 PMID:22576141 RGD:8157629, RGD:8158071, RGD:8158075 NCBI chr12:47,841,537...47,904,994
Ensembl chr12:47,841,537...47,943,048
JBrowse link
G XRCC3 X-ray repair cross complementing 3 EXP CTD Direct Evidence: marker/mechanism CTD NCBI chr14:103,697,617...103,715,451
Ensembl chr14:103,697,609...103,715,504
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 IAGP DNA:mutations:multiple (human) RGD PMID:27974201 RGD:151356739 NCBI chr16:67,562,526...67,639,185
Ensembl chr16:67,562,467...67,639,177
JBrowse link
G DDX5 DEAD-box helicase 5 IEP protein:increased expression:foreskin (human) RGD PMID:22548649 RGD:9850272 NCBI chr17:64,498,254...64,506,866
Ensembl chr17:64,498,254...64,508,199
JBrowse link
G FAT1 FAT atypical cadherin 1 disease_progression ISO associated with Neoplasm Metastasis RGD PMID:33328637 RGD:151347447 NCBI chr 4:186,587,794...186,726,696
Ensembl chr 4:186,587,794...186,726,722
JBrowse link
G FGF10 fibroblast growth factor 10 ISO Pten conditional KO mouse RGD PMID:24582960 RGD:126928134 NCBI chr 5:44,300,247...44,389,420
Ensembl chr 5:44,300,247...44,389,706
JBrowse link
G FYN FYN proto-oncogene, Src family tyrosine kinase ISS MouseDO NCBI chr 6:111,660,332...111,873,452
Ensembl chr 6:111,660,332...111,873,452
JBrowse link
G KNSTRN kinetochore localized astrin (SPAG5) binding protein IAGP DNA:mutation:cds: p.Ala40Glu (human)
DNA:mutation:cds: p.Ser24Phe(human)
RGD PMID:30972880 PMID:25194279 RGD:28867225, RGD:28867226 NCBI chr15:40,382,721...40,394,288
Ensembl chr15:40,382,721...40,394,288
JBrowse link
G PTEN phosphatase and tensin homolog ameliorates ISO RGD PMID:24582960 RGD:126928134 NCBI chr10:87,863,625...87,971,930
Ensembl chr10:87,862,638...87,971,930
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 121159
    disease of anatomical entity 111930
      integumentary system disease 12818
        integumentary system cancer 1903
          skin cancer 1903
            granular cell tumor of the sellar region 0
            labia minora cancer + 0
            labium majus cancer + 0
            malignant dermis tumor + 0
            malignant granular cell myoblastoma 0
            mediastinal granular cell myoblastoma 0
            prepuce cancer 0
            sebaceous carcinoma + 0
            skin carcinoma + 1256
            skin glomus tumor 0
            skin melanoma + 476
            skin meningioma 0
            skin sarcoma + 0
            sweat gland cancer + 3
Path 2
Term Annotations click to browse term
  disease 121159
    Pathological Conditions, Signs and Symptoms 68269
      Signs and Symptoms 45548
        Neurologic Manifestations 35771
          sensory system disease 24590
            skin disease 12818
              Skin Neoplasms 2216
                skin cancer 1903
                  granular cell tumor of the sellar region 0
                  labia minora cancer + 0
                  labium majus cancer + 0
                  malignant dermis tumor + 0
                  malignant granular cell myoblastoma 0
                  mediastinal granular cell myoblastoma 0
                  prepuce cancer 0
                  sebaceous carcinoma + 0
                  skin carcinoma + 1256
                  skin glomus tumor 0
                  skin melanoma + 476
                  skin meningioma 0
                  skin sarcoma + 0
                  sweat gland cancer + 3
paths to the root