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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:Skin Neoplasms
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Accession:DOID:9004464 term browser browse the term
Definition:Tumors or cancer of the SKIN.
Synonyms:exact_synonym: skin neoplasm
 primary_id: MESH:D012878
 alt_id: RDO:0000321
For additional species annotation, visit the Alliance of Genome Resources.


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Skin Neoplasms term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G a nonagouti ISO CTD Direct Evidence: marker/mechanism CTD PMID:18488027 NCBI chr 2:154,950,599...155,051,012
Ensembl chr 2:154,791,402...155,051,012
Ensembl chr 2:154,791,402...155,051,012
JBrowse link
G Ager advanced glycosylation end product-specific receptor IMP RGD PMID:18208974 RGD:8695988 NCBI chr17:34,597,460...34,600,937
Ensembl chr17:34,597,862...34,600,936
JBrowse link
G Aire autoimmune regulator (autoimmune polyendocrinopathy candidiasis ectodermal dystrophy) ISO CTD Direct Evidence: marker/mechanism CTD PMID:26168014 NCBI chr10:78,030,022...78,043,610
Ensembl chr10:78,030,022...78,043,610
JBrowse link
G Akt1 thymoma viral proto-oncogene 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21351258 NCBI chr12:112,653,821...112,674,884
Ensembl chr12:112,653,821...112,674,884
JBrowse link
G Anxa1 annexin A1 IEP RGD PMID:22782996 RGD:7421558 NCBI chr19:20,373,434...20,390,671
Ensembl chr19:20,373,428...20,390,944
JBrowse link
G Aqp3 aquaporin 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21401805 NCBI chr 4:41,092,724...41,098,183
Ensembl chr 4:41,092,722...41,098,183
JBrowse link
G Casp8 caspase 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18563783 NCBI chr 1:58,795,233...58,847,503
Ensembl chr 1:58,795,374...58,847,503
JBrowse link
G Cat catalase disease_progression
treatment
IEP RGD PMID:1747937, PMID:21517247 RGD:9479155, RGD:9479189 NCBI chr 2:103,453,904...103,485,153
Ensembl chr 2:103,453,849...103,485,160
JBrowse link
G Cdkn1a cyclin-dependent kinase inhibitor 1A (P21) IMP RGD PMID:9264409 RGD:8662813 NCBI chr17:29,090,979...29,100,722
Ensembl chr17:29,090,976...29,100,727
JBrowse link
G Cebpa CCAAT/enhancer binding protein (C/EBP), alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:21346772 NCBI chr 7:35,119,293...35,121,928
Ensembl chr 7:35,119,293...35,121,928
JBrowse link
G Csf3 colony stimulating factor 3 (granulocyte) ISO CTD Direct Evidence: therapeutic CTD PMID:9774950 NCBI chr11:98,700,183...98,703,631
Ensembl chr11:98,701,263...98,703,629
JBrowse link
G Csnk2a1 casein kinase 2, alpha 1 polypeptide ISO CTD Direct Evidence: marker/mechanism CTD PMID:18572023 NCBI chr 2:152,226,535...152,281,856
Ensembl chr 2:152,226,839...152,281,852
JBrowse link
G Csnk2a2 casein kinase 2, alpha prime polypeptide ISO CTD Direct Evidence: marker/mechanism CTD PMID:18572023 NCBI chr 8:95,446,096...95,488,868
Ensembl chr 8:95,446,096...95,490,039
JBrowse link
G Csnk2b casein kinase 2, beta polypeptide ISO CTD Direct Evidence: marker/mechanism CTD PMID:18572023 NCBI chr17:35,116,195...35,122,053
Ensembl chr17:35,116,196...35,122,053
JBrowse link
G Ctnnb1 catenin (cadherin associated protein), beta 1 IEP protein:increased expression:cytosol: RGD PMID:11517342 RGD:10395257 NCBI chr 9:120,933,400...120,960,507
Ensembl chr 9:120,929,216...120,960,507
JBrowse link
G Cyld CYLD lysine 63 deubiquitinase susceptibility ISO familial cylindromatosis, OMIM:132700;DNA:nonsense mutations RGD PMID:10835629 RGD:1601033 NCBI chr 8:88,696,878...88,751,946
Ensembl chr 8:88,697,028...88,751,945
JBrowse link
G Ephx1 epoxide hydrolase 1, microsomal ISO CTD Direct Evidence: marker/mechanism CTD PMID:26295053 NCBI chr 1:180,989,556...181,017,569
Ensembl chr 1:180,976,210...181,020,904
JBrowse link
G Erbb4 erb-b2 receptor tyrosine kinase 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19718025 NCBI chr 1:68,031,884...69,108,576
Ensembl chr 1:68,032,186...69,108,059
JBrowse link
G Ercc2 excision repair cross-complementing rodent repair deficiency, complementation group 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17050553 NCBI chr 7:19,382,017...19,395,694
Ensembl chr 7:19,382,010...19,395,694
JBrowse link
G Flt1 FMS-like tyrosine kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19718025 NCBI chr 5:147,561,604...147,726,438
Ensembl chr 5:147,561,604...147,726,011
JBrowse link
G Gja1 gap junction protein, alpha 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:7586191 NCBI chr10:56,377,300...56,390,419
Ensembl chr10:56,377,330...56,402,513
JBrowse link
G Gjb2 gap junction protein, beta 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:7586191 NCBI chr14:57,098,602...57,104,702
Ensembl chr14:57,098,600...57,104,702
JBrowse link
G Gjb5 gap junction protein, beta 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:7586191 NCBI chr 4:127,354,809...127,358,164
Ensembl chr 4:127,354,809...127,358,181
JBrowse link
G Gli2 GLI-Kruppel family member GLI2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10700170 NCBI chr 1:118,834,061...119,054,405
Ensembl chr 1:118,834,132...119,053,619
JBrowse link
G Gstt1 glutathione S-transferase, theta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26295053 NCBI chr10:75,783,813...75,798,584
Ensembl chr10:75,783,813...75,798,584
JBrowse link
G Gypa glycophorin A ISO CTD Direct Evidence: marker/mechanism CTD PMID:17029826 NCBI chr 8:80,494,045...80,510,785
Ensembl chr 8:80,493,781...80,510,542
JBrowse link
G Hcar2 hydroxycarboxylic acid receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21655214 NCBI chr 5:123,863,570...123,865,516
Ensembl chr 5:123,863,570...123,865,499
JBrowse link
G Hgf hepatocyte growth factor susceptibility IDA RGD PMID:10919643 RGD:8548621 NCBI chr 5:16,553,495...16,619,439
Ensembl chr 5:16,553,495...16,620,152
JBrowse link
G Hif1a hypoxia inducible factor 1, alpha subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:19276359 NCBI chr12:73,901,324...73,947,554
Ensembl chr12:73,901,375...73,947,530
JBrowse link
G Hras Harvey rat sarcoma virus oncogene ISO CTD Direct Evidence: marker/mechanism CTD PMID:8330346, PMID:8508502, PMID:9766437, PMID:15958052, PMID:18758463, PMID:24898257, PMID:26558449 NCBI chr 7:141,189,934...141,194,019
Ensembl chr 7:141,189,105...141,194,005
JBrowse link
G Igf1 insulin-like growth factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24353828, PMID:9135074 RGD:8549453 NCBI chr10:87,858,265...87,937,047
Ensembl chr10:87,858,265...87,937,042
JBrowse link
G Igf1r insulin-like growth factor I receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:10365914 NCBI chr 7:67,952,257...68,233,668
Ensembl chr 7:67,952,827...68,233,668
JBrowse link
G Il1a interleukin 1 alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:8435107 NCBI chr 2:129,299,609...129,310,186
Ensembl chr 2:129,299,610...129,309,972
JBrowse link
G Ivl involucrin ISO CTD Direct Evidence: marker/mechanism CTD PMID:18572023 NCBI chr 3:92,570,899...92,573,790
Ensembl chr 3:92,570,902...92,573,735
JBrowse link
G Krt1 keratin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18572023 NCBI chr15:101,845,426...101,850,786
Ensembl chr15:101,845,426...101,850,794
JBrowse link
G Krt10 keratin 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18572023 NCBI chr11:99,385,254...99,397,449
Ensembl chr11:99,385,254...99,389,364
JBrowse link
G Krt17 keratin 17 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26168014 NCBI chr11:100,256,215...100,261,029
Ensembl chr11:100,256,217...100,261,029
JBrowse link
G Lor loricrin ISO CTD Direct Evidence: marker/mechanism CTD PMID:18572023 NCBI chr 3:92,080,271...92,083,142
Ensembl chr 3:92,080,271...92,083,142
JBrowse link
G Map2k4 mitogen-activated protein kinase kinase 4 treatment IDA RGD PMID:21378167 RGD:7495826 NCBI chr11:65,688,244...65,788,359
Ensembl chr11:65,688,243...65,788,297
JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18572023 NCBI chr 2:164,940,326...164,955,850
Ensembl chr 2:164,940,780...164,955,850
JBrowse link
G Nfe2l2 nuclear factor, erythroid derived 2, like 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18572023 NCBI chr 2:75,675,513...75,704,663
Ensembl chr 2:75,675,513...75,704,641
JBrowse link
G Nme2 NME/NM23 nucleoside diphosphate kinase 2 IEP protein:increased expression:tumor (mouse) RGD PMID:14623877 RGD:5132889 NCBI chr11:93,949,814...93,956,256
Ensembl chr11:93,949,814...93,956,259
JBrowse link
G Notch1 notch 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27923803 NCBI chr 2:26,457,902...26,503,822
Ensembl chr 2:26,457,903...26,516,663
JBrowse link
G Notch2 notch 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27923803 NCBI chr 3:98,013,538...98,150,367
Ensembl chr 3:98,013,527...98,150,361
JBrowse link
G Notch3 notch 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27923803 NCBI chr17:32,120,820...32,166,896
Ensembl chr17:32,120,820...32,166,852
JBrowse link
G Notch4 notch 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27923803 NCBI chr17:34,564,286...34,588,543
Ensembl chr17:34,564,268...34,588,503
JBrowse link
G Nppa natriuretic peptide type A ISO CTD Direct Evidence: therapeutic CTD PMID:18004088 NCBI chr 4:148,000,722...148,002,074
Ensembl chr 4:148,000,722...148,002,079
JBrowse link
G Nsd1 nuclear receptor-binding SET-domain protein 1 IMP RGD PMID:22832494 RGD:9590156 NCBI chr13:55,209,782...55,318,325
Ensembl chr13:55,209,782...55,318,325
JBrowse link
G Odc1 ornithine decarboxylase, structural 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:2591024, PMID:7653998 NCBI chr12:17,544,808...17,551,502
Ensembl chr12:17,544,794...17,551,505
JBrowse link
G Plcd1 phospholipase C, delta 1 IMP RGD PMID:12805213 RGD:1302551 NCBI chr 9:119,071,527...119,093,502
Ensembl chr 9:119,071,527...119,093,502
JBrowse link
G Pot1a protection of telomeres 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:24686849 NCBI chr 6:25,743,940...25,809,277
Ensembl chr 6:25,743,737...25,809,246
JBrowse link
G Ppard peroxisome proliferator activator receptor delta ISO CTD Direct Evidence: marker/mechanism|therapeutic CTD PMID:19748995, PMID:21159610 NCBI chr17:28,232,754...28,301,469
Ensembl chr17:28,232,700...28,301,474
JBrowse link
G Ptch1 patched 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9581815 NCBI chr13:63,508,328...63,573,460
Ensembl chr13:63,508,328...63,573,598
JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17499752, PMID:19748995, PMID:21159610 NCBI chr 1:150,100,031...150,108,234
Ensembl chr 1:150,100,031...150,108,227
JBrowse link
G Ptk2b PTK2 protein tyrosine kinase 2 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:19718025 NCBI chr14:66,153,257...66,281,100
Ensembl chr14:66,153,257...66,281,052
JBrowse link
G Rela v-rel reticuloendotheliosis viral oncogene homolog A (avian) ISO CTD Direct Evidence: marker/mechanism CTD PMID:23069812 NCBI chr19:5,637,442...5,648,134
Ensembl chr19:5,637,483...5,648,130
JBrowse link
G Smo smoothened, frizzled class receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:9581815 NCBI chr 6:29,735,497...29,761,366
Ensembl chr 6:29,735,503...29,761,365
JBrowse link
G Sod2 superoxide dismutase 2, mitochondrial disease_progression IMP
ISO
IEP
CTD Direct Evidence: marker/mechanism|therapeutic CTD PMID:11507057, PMID:20454814, PMID:22009531, PMID:25362851, PMID:12032821, PMID:15130280, PMID:22009531 RGD:8547517, RGD:8547532, RGD:8547525 NCBI chr17:13,007,839...13,018,119
Ensembl chr17:13,006,846...13,040,063
JBrowse link
G Sp1 trans-acting transcription factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22009531 NCBI chr15:102,406,316...102,436,404
Ensembl chr15:102,406,143...102,436,404
JBrowse link
G Stat3 signal transducer and activator of transcription 3 IMP RGD PMID:19137019, PMID:18453544 RGD:8694289, RGD:8694294 NCBI chr11:100,886,806...100,939,594
Ensembl chr11:100,885,098...100,939,540
JBrowse link
G Tgfb1 transforming growth factor, beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:8148055 NCBI chr 7:25,687,002...25,705,077
Ensembl chr 7:25,687,002...25,705,077
JBrowse link
G Tgfbr1 transforming growth factor, beta receptor I ISO CTD Direct Evidence: marker/mechanism CTD PMID:21358634 NCBI chr 4:47,353,222...47,414,926
Ensembl chr 4:47,353,222...47,414,931
JBrowse link
G Trp53 transformation related protein 53 ISO
EXP
DNA:polymorphism,mutations:cds:p.R72P(human)
CTD Direct Evidence: marker/mechanism
CTD PMID:12635827, PMID:22009531, PMID:27923803, PMID:21123835 RGD:8547834 NCBI chr11:69,580,348...69,591,873
Ensembl chr11:69,580,359...69,591,873
JBrowse link
G Tyr tyrosinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:18488027 NCBI chr 7:87,424,771...87,493,512
Ensembl chr 7:87,424,771...87,493,512
JBrowse link
G Vegfa vascular endothelial growth factor A IMP RGD PMID:15150105 RGD:7421589 NCBI chr17:46,016,993...46,032,377
Ensembl chr17:46,016,993...46,032,369
JBrowse link
G Xpa xeroderma pigmentosum, complementation group A ISO CTD Direct Evidence: marker/mechanism CTD PMID:10755388, PMID:16962818 NCBI chr 4:46,175,220...46,196,344
Ensembl chr 4:46,155,347...46,196,311
JBrowse link
G Xrcc3 X-ray repair complementing defective repair in Chinese hamster cells 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11059748, PMID:16501254 NCBI chr12:111,803,192...111,813,893
Ensembl chr12:111,803,192...111,813,873
JBrowse link
angiokeratoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gla galactosidase, alpha ISO CTD Direct Evidence: therapeutic CTD PMID:19925601 NCBI chr  X:134,588,169...134,601,005
Ensembl chr  X:134,588,149...134,601,125
JBrowse link
G Naga N-acetyl galactosaminidase, alpha ISO Kanzaki Disease, OMIM:609242, DNA:point mutation:exon:R329W RGD PMID:8040340 RGD:1600558 NCBI chr15:82,329,532...82,338,884
Ensembl chr15:82,329,532...82,338,925
JBrowse link
anogenital venereal wart term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccl20 chemokine (C-C motif) ligand 20 ISO protein:decreased expression:skin RGD PMID:17545018 RGD:7483603 NCBI chr 1:83,116,766...83,119,167
Ensembl chr 1:83,116,766...83,119,167
JBrowse link
G Ifna16 interferon alpha 16 treatment ISO RGD PMID:25774455 RGD:36174028 NCBI chr 4:88,676,287...88,676,856
Ensembl chr 4:88,675,915...88,676,924
JBrowse link
G Il12b interleukin 12b treatment ISO RGD PMID:16114559 RGD:7829774 NCBI chr11:44,400,063...44,414,677
Ensembl chr11:44,400,063...44,414,033
JBrowse link
G Il4 interleukin 4 treatment ISO RGD PMID:16114559 RGD:7829774 NCBI chr11:53,612,460...53,618,665
Ensembl chr11:53,602,982...53,618,669
JBrowse link
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 ISO protein:increased expression:foreskin RGD PMID:18543080 RGD:39128248 NCBI chr 5:121,130,533...121,191,397
Ensembl chr 5:121,130,533...121,191,397
JBrowse link
G Ptpn6 protein tyrosine phosphatase, non-receptor type 6 ISO protein:increased expression:foreskin RGD PMID:18543080 RGD:39128248 NCBI chr 6:124,720,707...124,738,709
Ensembl chr 6:124,720,707...124,738,714
JBrowse link
G Serpinf1 serine (or cysteine) peptidase inhibitor, clade F, member 1 disease_progression ISO mRNA, protein:decreased expression:skin of body (human) RGD PMID:23569025 RGD:27226706 NCBI chr11:75,410,029...75,422,623
Ensembl chr11:75,409,769...75,422,701
JBrowse link
basal cell carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G a nonagouti ISO CTD Direct Evidence: marker/mechanism CTD PMID:18488027 NCBI chr 2:154,950,599...155,051,012
Ensembl chr 2:154,791,402...155,051,012
Ensembl chr 2:154,791,402...155,051,012
JBrowse link
G Bap1 Brca1 associated protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26719535, PMID:25080371 RGD:9586038 NCBI chr14:31,251,352...31,259,930
Ensembl chr14:31,251,450...31,259,944
JBrowse link
G Ccnh cyclin H ISO ClinVar Annotator: match by term: Basal cell carcinoma, somatic
ClinVar Annotator: match by term: BCC1
ClinVar PMID:8275088, PMID:25741868, PMID:28492532 NCBI chr13:85,189,377...85,213,731
Ensembl chr13:85,189,408...85,223,469
JBrowse link
G Clptm1l CLPTM1-like ISO CTD Direct Evidence: marker/mechanism CTD PMID:19151717 NCBI chr13:73,604,002...73,620,639
Ensembl chr13:73,604,006...73,620,605
JBrowse link
G Crnkl1 crooked neck pre-mRNA splicing factor 1 ISO DNA:missense mutation:cds:p.S128F (human) RGD PMID:23774526 RGD:9850250 NCBI chr 2:145,917,482...145,934,700
Ensembl chr 2:145,917,479...145,935,014
JBrowse link
G Ctla4 cytotoxic T-lymphocyte-associated protein 4 susceptibility ISO DNA:SNP: :rs3087243(human) RGD PMID:19622768 RGD:7411686 NCBI chr 1:60,909,025...60,915,832
Ensembl chr 1:60,887,000...60,915,832
JBrowse link
G Erbb2 erb-b2 receptor tyrosine kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26950094 NCBI chr11:98,412,484...98,437,716
Ensembl chr11:98,412,470...98,437,716
JBrowse link
G Fbxw7 F-box and WD-40 domain protein 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26950094 NCBI chr 3:84,814,990...84,979,198
Ensembl chr 3:84,815,268...84,979,198
JBrowse link
G Gli2 GLI-Kruppel family member GLI2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10700170 NCBI chr 1:118,834,061...119,054,405
Ensembl chr 1:118,834,132...119,053,619
JBrowse link
G Hhip Hedgehog-interacting protein treatment IEP
IDA
mRNA:increased expression:skin: RGD PMID:15024045, PMID:15024045 RGD:11552592, RGD:11552592 NCBI chr 8:79,965,850...80,058,060
Ensembl chr 8:79,965,851...80,058,006
JBrowse link
G Il6 interleukin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22108589 NCBI chr 5:30,013,114...30,019,975
Ensembl chr 5:30,013,114...30,019,981
JBrowse link
G Krt17 keratin 17 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20871598 NCBI chr11:100,256,215...100,261,029
Ensembl chr11:100,256,217...100,261,029
JBrowse link
G Krt5 keratin 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19578363, PMID:20871598 NCBI chr15:101,707,069...101,712,905
Ensembl chr15:101,707,070...101,712,898
JBrowse link
G Lats1 large tumor suppressor ISO CTD Direct Evidence: marker/mechanism CTD PMID:26950094 NCBI chr10:7,681,200...7,716,461
Ensembl chr10:7,681,214...7,716,460
JBrowse link
G Mc1r melanocortin 1 receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539553 NCBI chr 8:123,407,082...123,410,744
Ensembl chr 8:123,407,107...123,410,744
JBrowse link
G Mycn v-myc avian myelocytomatosis viral related oncogene, neuroblastoma derived ISO CTD Direct Evidence: marker/mechanism CTD PMID:26950094 NCBI chr12:12,936,093...12,941,836
Ensembl chr12:12,936,093...12,941,914
JBrowse link
G Oca2 oculocutaneous albinism II susceptibility ISO DNA:snps:intron:IVS1+132A>G (rs7495174), IVS1+8550A>G (rs11855019), IVS1+15605G>A (rs7174027) (human)
DNA:missense mutation:cds:p.R419Q (rs1800407) (human)
RGD PMID:21270109, PMID:19384953 RGD:9491840, RGD:9491841 NCBI chr 7:56,239,593...56,536,518
Ensembl chr 7:56,239,760...56,536,518
JBrowse link
G Ogg1 8-oxoguanine DNA-glycosylase 1 no_association ISO DNA:missense mutation: :p.S326C (rs1052133)(human) RGD PMID:22436579, PMID:15466987 RGD:8657137, RGD:8657158 NCBI chr 6:113,326,972...113,334,877
Ensembl chr 6:113,326,972...113,335,068
JBrowse link
G Palb2 partner and localizer of BRCA2 ISO ClinVar Annotator: match by term: Basal cell carcinoma ClinVar PMID:27878467 NCBI chr 7:122,107,262...122,132,980
Ensembl chr 7:122,107,262...122,132,985
JBrowse link
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:26950094 NCBI chr 3:32,397,065...32,466,112
Ensembl chr 3:32,397,671...32,468,486
JBrowse link
G Pomgnt1 protein O-linked mannose beta 1,2-N-acetylglucosaminyltransferase ISO ClinVar Annotator: match by term: Basal cell epithelioma ClinVar PMID:11709191, PMID:12588800, PMID:15466003, PMID:16427280, PMID:17559086, PMID:17878207, PMID:17881266, PMID:17906881, PMID:19299310, PMID:22323514, PMID:23326386, PMID:25741868, PMID:26013959, PMID:28492532, PMID:30311386 NCBI chr 4:116,150,498...116,159,844
Ensembl chr 4:116,123,840...116,159,849
JBrowse link
G Ppp6c protein phosphatase 6, catalytic subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:26950094 NCBI chr 2:39,194,369...39,226,349
Ensembl chr 2:39,194,354...39,226,451
JBrowse link
G Ptch1 patched 1 susceptibility
disease_progression
IMP
ISO
IEA
ClinVar Annotator: match by term: Basal cell epithelioma
ClinVar Annotator: match by term: Basal cell carcinoma
ClinVar Annotator: match by term: BCC1
OMIM:605462 | OMIM:613058 | OMIM:613059 | OMIM:613061 | OMIM:613062 | OMIM:613063 | OMIM:614740
mRNA:increased expression:skin of body
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Basal cell carcinoma, somatic
ClinVar
OMIM
MouseDO
CTD
PMID:8782823, PMID:9581815, PMID:9620294, PMID:18854826, PMID:24728327, PMID:25741868, PMID:26950094, PMID:28492532, PMID:30311386, PMID:9422511, PMID:10504535 RGD:704355, RGD:12801453 NCBI chr13:63,508,328...63,573,460
Ensembl chr13:63,508,328...63,573,598
JBrowse link
G Ptch2 patched 2 susceptibility ISO ClinVar Annotator: match by term: Basal cell carcinoma, somatic
ClinVar Annotator: match by term: BCC1
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:9931336, PMID:25741868, PMID:28492532 NCBI chr 4:117,096,056...117,116,101
Ensembl chr 4:117,096,075...117,116,101
JBrowse link
G Ptpn14 protein tyrosine phosphatase, non-receptor type 14 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26950094 NCBI chr 1:189,728,216...189,876,695
Ensembl chr 1:189,728,268...189,876,695
JBrowse link
G Rasa1 RAS p21 protein activator 1 susceptibility ISO DNA:missense mutations:cds: (human)
ClinVar Annotator: match by term: BCC1
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Basal cell carcinoma, somatic
ClinVar
CTD
OMIM
PMID:8275088, PMID:25741868, PMID:28492532, PMID:8275088 RGD:737716 NCBI chr13:85,214,699...85,289,486
Ensembl chr13:85,214,780...85,289,130
JBrowse link
G Rb1 RB transcriptional corepressor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26950094 NCBI chr14:73,192,858...73,325,951
Ensembl chr14:73,183,673...73,325,822
JBrowse link
G Rpe65 retinal pigment epithelium 65 ISO mRNA:increased expression:skin (human) RGD PMID:16181461 RGD:9495923 NCBI chr 3:159,599,075...159,625,307
Ensembl chr 3:159,599,175...159,625,321
JBrowse link
G Shh sonic hedgehog ISO DNA, protein:hypermethylation, decreased expression:skin of body RGD PMID:23284750 RGD:12801452 NCBI chr 5:28,456,840...28,467,101
Ensembl chr 5:28,456,815...28,467,256
JBrowse link
G Slc45a2 solute carrier family 45, member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19578363 NCBI chr15:11,000,721...11,029,233
Ensembl chr15:11,000,721...11,029,233
JBrowse link
G Smo smoothened, frizzled class receptor susceptibility
disease_progression
ISO DNA:missense mutations:cds:p.W535L, p.R562Q (human)
ClinVar Annotator: match by term: Carcinoma, Basal Cell
mRNA:increased expression:skin of body
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Basal cell carcinoma, sporadic
OMIM
ClinVar
CTD
PMID:9422511, PMID:9581815, PMID:19726788, PMID:22679179, PMID:25759020, PMID:26950094, PMID:9422511, PMID:10504535 RGD:704355, RGD:12801453 NCBI chr 6:29,735,497...29,761,366
Ensembl chr 6:29,735,503...29,761,365
JBrowse link
G Stk19 serine/threonine kinase 19 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26950094 NCBI chr17:34,823,993...34,836,903
Ensembl chr17:34,823,993...34,836,945
JBrowse link
G Sufu SUFU negative regulator of hedgehog signaling ISO CTD Direct Evidence: marker/mechanism CTD PMID:26950094 NCBI chr19:46,396,896...46,488,804
Ensembl chr19:46,396,896...46,488,804
JBrowse link
G Tert telomerase reverse transcriptase ISO CTD Direct Evidence: marker/mechanism CTD PMID:19151717 NCBI chr13:73,626,911...73,649,843
Ensembl chr13:73,626,911...73,649,843
JBrowse link
G Trp53 transformation related protein 53 ISO DNA:mutations:cds:
ClinVar Annotator: match by term: Basal cell carcinoma, susceptibility to, 7
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:1565143, PMID:1565144, PMID:1683921, PMID:7732013, PMID:7887414, PMID:8164043, PMID:8198984, PMID:8203469, PMID:8423216, PMID:8825920, PMID:9047394, PMID:9242456, PMID:9569050, PMID:9865903, PMID:10411893, PMID:10797439, PMID:10864200, PMID:11040944, PMID:11101847, PMID:11139324, PMID:11391594, PMID:11479205, PMID:11511317, PMID:11782540, PMID:12007217, PMID:12619118, PMID:12672316, PMID:12826609, PMID:15004724, PMID:15173255, PMID:15381368, PMID:15390294, PMID:15580553, PMID:15607980, PMID:15607981, PMID:15951970, PMID:15977174, PMID:16401470, PMID:16489069, PMID:16682957, PMID:16818505, PMID:17224268, PMID:17289876, PMID:17540308, PMID:17606709, PMID:17636407, PMID:17727479, PMID:18391940, PMID:18511570, PMID:19127115, PMID:19367569, PMID:19556618, PMID:19881536, PMID:20113312, PMID:20128691, PMID:20407015, PMID:20516128, PMID:20689556, PMID:20693561, PMID:21187651, PMID:21232794, PMID:21305319, PMID:21343334, PMID:21484931, PMID:21512767, PMID:21519010, PMID:21552135, PMID:21601526, PMID:21761402, PMID:21946351, PMID:22006311, PMID:22110706, PMID:22186996, PMID:22233476, PMID:22652532, PMID:22698404, PMID:22706378, PMID:22710932, PMID:22800615, PMID:22811390, PMID:22899716, PMID:22915647, PMID:23161690, PMID:23246812, PMID:23263379, PMID:23484829, PMID:23515929, PMID:23538418, PMID:23571737, PMID:23742673, PMID:23792586, PMID:23894400, PMID:24033266, PMID:24381225, PMID:24487413, PMID:24501221, PMID:24573247, PMID:24634504, PMID:24641375, PMID:24651012, PMID:24677579, PMID:24728327, PMID:24810334, PMID:24868540, PMID:25157968, PMID:25422255, PMID:25527155, PMID:25584008, PMID:25741868, PMID:25787918, PMID:25907361, PMID:25952993, PMID:26086041, PMID:26230955, PMID:26467025, PMID:26585234, PMID:26619011, PMID:26681312, PMID:26822237, PMID:26823150, PMID:26845104, PMID:26950094, PMID:27147571, PMID:27153395, PMID:27276561, PMID:27374712, PMID:27463065, PMID:27516001, PMID:27680515, PMID:27683180, PMID:27895058, PMID:27959731, PMID:28125078, PMID:28349240, PMID:28369373, PMID:28453743, PMID:28492532, PMID:28772286, PMID:28861920, PMID:29478780, PMID:29489754, PMID:29945567, PMID:30076369, PMID:30224644, PMID:30287823, PMID:30327374, PMID:30374176, PMID:30883245, PMID:31016814, PMID:31159747, PMID:31775759, PMID:9539248, PMID:10677095 RGD:8547844, RGD:8547848 NCBI chr11:69,580,348...69,591,873
Ensembl chr11:69,580,359...69,591,873
JBrowse link
G Tspan1 tetraspanin 1 ISO ClinVar Annotator: match by term: Basal cell epithelioma ClinVar PMID:11709191, PMID:12588800, PMID:15466003, PMID:16427280, PMID:17559086, PMID:17878207, PMID:17881266, PMID:17906881, PMID:19299310, PMID:22323514, PMID:23326386, PMID:25741868, PMID:26013959, PMID:28492532, PMID:30311386 NCBI chr 4:116,161,881...116,167,621
Ensembl chr 4:116,161,869...116,167,601
JBrowse link
G Tyr tyrosinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:18488027 NCBI chr 7:87,424,771...87,493,512
Ensembl chr 7:87,424,771...87,493,512
JBrowse link
G Vdr vitamin D (1,25-dihydroxyvitamin D3) receptor ISO DNA:SNPs, haplotype: :rs731236, rs7975232 (human)
mRNA:increased expression:skin
RGD PMID:22213323, PMID:15077124 RGD:8158063, RGD:8158076 NCBI chr15:97,854,427...97,908,296
Ensembl chr15:97,854,425...97,910,630
JBrowse link
G Xpa xeroderma pigmentosum, complementation group A ISO CTD Direct Evidence: marker/mechanism CTD PMID:17687452 NCBI chr 4:46,175,220...46,196,344
Ensembl chr 4:46,155,347...46,196,311
JBrowse link
G Xrcc3 X-ray repair complementing defective repair in Chinese hamster cells 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16501254 NCBI chr12:111,803,192...111,813,893
Ensembl chr12:111,803,192...111,813,873
JBrowse link
G Xrcc5 X-ray repair complementing defective repair in Chinese hamster cells 5 ISO protein:increased expression:epidermal cell, basal cell of epidermis (human) RGD PMID:16497868 RGD:8698657 NCBI chr 1:72,307,417...72,394,953
Ensembl chr 1:72,307,427...72,394,952
JBrowse link
G Xrcc6 X-ray repair complementing defective repair in Chinese hamster cells 6 ISO protein:increased expression:epidermal cell, basal cell of epidermis (human) RGD PMID:16497868 RGD:8698657 NCBI chr15:81,987,833...82,040,085
Ensembl chr15:81,987,835...82,040,085
JBrowse link
Blue Rubber Bleb Nevus Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Glmn glomulin, FKBP associated protein ISO ClinVar Annotator: match by term: Blue rubber bleb nevus ClinVar NCBI chr 5:107,548,962...107,597,888
Ensembl chr 5:107,548,967...107,597,888
JBrowse link
Brooke-Spiegler syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cyld CYLD lysine 63 deubiquitinase ISO ClinVar Annotator: match by term: Spiegler-Brooke syndrome
ClinVar Annotator: match by OMIM:132700
ClinVar Annotator: match by OMIM:605041
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:601606
OMIM
ClinVar
CTD
PMID:10835629, PMID:12190880, PMID:12950348, PMID:14632188, PMID:15854031, PMID:16307661, PMID:16922728, PMID:18234730, PMID:19807742, PMID:24728327, PMID:28492532 NCBI chr 8:88,696,878...88,751,946
Ensembl chr 8:88,697,028...88,751,945
JBrowse link
capillary hemangioma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col1a1 collagen, type I, alpha 1 ISO ClinVar Annotator: match by term: Capillary hemangioma ClinVar PMID:25741868, PMID:30311386 NCBI chr11:94,936,224...94,953,042
Ensembl chr11:94,936,224...94,953,042
JBrowse link
G Npc1 NPC intracellular cholesterol transporter 1 ISO ClinVar Annotator: match by term: Capillary hemangiomas ClinVar PMID:25741868 NCBI chr18:12,189,694...12,236,506
Ensembl chr18:12,189,692...12,236,400
JBrowse link
Capillary Hemangioma, Infantile term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Antxr1 anthrax toxin receptor 1 ISO ClinVar Annotator: match by term: Hemangioma, capillary infantile, susceptibility to OMIM
ClinVar
PMID:18931684 NCBI chr 6:87,133,853...87,335,809
Ensembl chr 6:87,133,853...87,335,821
JBrowse link
G Flt4 FMS-like tyrosine kinase 4 ISO ClinVar Annotator: match by term: Hemangioma, capillary infantile, susceptibility to OMIM
ClinVar
PMID:11807987, PMID:25741868, PMID:28492532 NCBI chr11:49,609,679...49,652,739
Ensembl chr11:49,609,263...49,652,739
JBrowse link
G Kdr kinase insert domain protein receptor ISO ClinVar Annotator: match by term: Hemangioma, capillary infantile
ClinVar Annotator: match by term: Hemangioma, capillary infantile, susceptibility to
ClinVar Annotator: match by OMIM:602089
OMIM
ClinVar
PMID:11807987, PMID:18931684, PMID:24033266, PMID:24728327 NCBI chr 5:75,932,827...75,979,072
Ensembl chr 5:75,932,827...75,978,458
JBrowse link
G Myh9 myosin, heavy polypeptide 9, non-muscle ISO ClinVar Annotator: match by term: Hemangioma, capillary infantile ClinVar NCBI chr15:77,760,585...77,842,175
Ensembl chr15:77,760,587...77,842,175
JBrowse link
G Slc2a1 solute carrier family 2 (facilitated glucose transporter), member 1 ISO RGD PMID:17554865 RGD:12879502 NCBI chr 4:119,108,745...119,137,330
Ensembl chr 4:119,108,711...119,137,983
JBrowse link
cerebellar angioblastoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Vhl von Hippel-Lindau tumor suppressor ISO ClinVar Annotator: match by term: Cerebellar hemangioblastoma ClinVar PMID:25741868, PMID:28492532 NCBI chr 6:113,623,994...113,631,634
Ensembl chr 6:113,623,959...113,631,633
JBrowse link
Cutaneous Malignant Melanoma, Susceptibility To, 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Stk11 serine/threonine kinase 11 ISO ClinVar Annotator: match by term: B-K MOLE SYNDROME ClinVar PMID:10201537, PMID:10208439, PMID:25157968 NCBI chr10:80,115,767...80,130,679
Ensembl chr10:80,115,803...80,130,682
JBrowse link
cutaneous Paget's disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha severity ISO DNA:mutations:multiple: RGD PMID:22522847 RGD:14402410 NCBI chr 3:32,397,065...32,466,112
Ensembl chr 3:32,397,671...32,468,486
JBrowse link
dermatopathia pigmentosa reticularis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Krt14 keratin 14 ISO ClinVar Annotator: match by OMIM:125595 OMIM
ClinVar
PMID:1303619, PMID:16960809 NCBI chr11:100,203,162...100,207,510
Ensembl chr11:100,203,162...100,207,548
JBrowse link
epidermal appendage tumor term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tmem207 transmembrane protein 207 IEA MouseDO NCBI chr16:26,503,793...26,526,771
Ensembl chr16:26,503,656...26,526,769
JBrowse link
epidermodysplasia verruciformis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tmc6 transmembrane channel-like gene family 6 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Epidermodysplasia verruciformis
CTD
ClinVar
PMID:15042430, PMID:17139267, PMID:25741868, PMID:28492532 NCBI chr11:117,765,985...117,782,193
Ensembl chr11:117,765,988...117,782,198
JBrowse link
G Tmc8 transmembrane channel-like gene family 8 ISO ClinVar Annotator: match by term: Epidermodysplasia verruciformis ClinVar PMID:12426567, PMID:22158547, PMID:25741868, PMID:28492532 NCBI chr11:117,781,584...117,793,137
Ensembl chr11:117,782,076...117,793,110
JBrowse link
Epidermodysplasia Verruciformis 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tmc6 transmembrane channel-like gene family 6 ISO ClinVar Annotator: match by term: EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 1 ClinVar
OMIM
PMID:12426567, PMID:15042430, PMID:17139267, PMID:25741868, PMID:28492532 NCBI chr11:117,765,985...117,782,193
Ensembl chr11:117,765,988...117,782,198
JBrowse link
G Tmc8 transmembrane channel-like gene family 8 ISO ClinVar Annotator: match by term: EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 1 ClinVar PMID:25741868, PMID:28492532 NCBI chr11:117,781,584...117,793,137
Ensembl chr11:117,782,076...117,793,110
JBrowse link
Epidermodysplasia Verruciformis 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tmc8 transmembrane channel-like gene family 8 ISO ClinVar Annotator: match by term: EPIDERMODYSPLASIA VERRUCIFORMIS 2
ClinVar Annotator: match by term: EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 2
ClinVar
OMIM
PMID:10084299, PMID:12426567, PMID:28646613 NCBI chr11:117,781,584...117,793,137
Ensembl chr11:117,782,076...117,793,110
JBrowse link
Epidermodysplasia Verruciformis 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cib1 calcium and integrin binding 1 (calmyrin) ISO ClinVar Annotator: match by term: EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 3 ClinVar
OMIM
PMID:228581, PMID:19702156, PMID:20982046, PMID:21196704, PMID:28646613, PMID:30068544 NCBI chr 7:80,227,156...80,232,805
Ensembl chr 7:80,227,147...80,232,813
JBrowse link
Epidermodysplasia Verruciformis 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rhoh ras homolog family member H susceptibility ISO ClinVar Annotator: match by term: EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 4 ClinVar
OMIM
PMID:22850876 NCBI chr 5:65,860,742...65,896,700
Ensembl chr 5:65,861,213...65,896,700
JBrowse link
Epidermodysplasia Verruciformis 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il7 interleukin 7 susceptibility ISO ClinVar Annotator: match by term: EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 5 OMIM
ClinVar
PMID:25981006 NCBI chr 3:7,572,028...7,613,760
Ensembl chr 3:7,569,994...7,613,760
JBrowse link
Familial Cutaneous Collagenoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lemd3 LEM domain containing 3 ISO DNA:transition mutation:intron: 1522+1G>A(human) RGD PMID:17223882 RGD:11553841 NCBI chr10:120,923,411...120,979,396
Ensembl chr10:120,923,413...120,979,332
JBrowse link
familial melanoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdk4 cyclin-dependent kinase 4 ISO ClinVar Annotator: match by term: Hereditary cutaneous melanoma
ClinVar Annotator: match by term: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 3
ClinVar
OMIM
PMID:5377176, PMID:7652577, PMID:8528263, PMID:8968104, PMID:9228064, PMID:9311594, PMID:9425228, PMID:10398427, PMID:11756559, PMID:11828258, PMID:14621993, PMID:15880589, PMID:16201750, PMID:19139070, PMID:19690981, PMID:19888216, PMID:20668451, PMID:21520333, PMID:21801156, PMID:22804906, PMID:22932448, PMID:23384855, PMID:23546221, PMID:23718828, PMID:24162924, PMID:24256466, PMID:24728327, PMID:24755471, PMID:25157968, PMID:25186627, PMID:25318351, PMID:25416956, PMID:25741868, PMID:25980754, PMID:26252490, PMID:26467025, PMID:26534844, PMID:26580448, PMID:26619011, PMID:26800492, PMID:26976419, PMID:27640074, PMID:27978560, PMID:28060055, PMID:28135145, PMID:28166811, PMID:28380455, PMID:28492532, PMID:28726808, PMID:29774366, PMID:29917049 NCBI chr10:127,063,535...127,067,288
Ensembl chr10:127,063,534...127,067,920
JBrowse link
G Cdkn2a cyclin dependent kinase inhibitor 2A ISO ClinVar Annotator: match by term: Hereditary cutaneous melanoma
ClinVar Annotator: match by term: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2
ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 2
ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10
ClinVar Annotator: match by term: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 3
ClinVar Annotator: match by term: Cutaneous malignant melanoma 5
ClinVar
OMIM
PMID:2319082, PMID:2677576, PMID:7566978, PMID:7569991, PMID:7614482, PMID:7624155, PMID:7632931, PMID:7640518, PMID:7647780, PMID:7666917, PMID:7670475, PMID:7718873, PMID:7777061, PMID:7780957, PMID:7796400, PMID:7881419, PMID:7882348, PMID:7923152, PMID:7970734, PMID:7972006, PMID:7987387, PMID:7987388, PMID:8012957, PMID:8023167, PMID:8060323, PMID:8153634, PMID:8521414, PMID:8552158, PMID:8552400, PMID:8561866, PMID:8570179, PMID:8573142, PMID:8595405, PMID:8595411, PMID:8603820, PMID:8631588, PMID:8653684, PMID:8668202, PMID:8710906, PMID:8723678, PMID:8727306, PMID:8755727, PMID:8841025, PMID:9049826, PMID:9053859, PMID:9132280, PMID:9133447, PMID:9166859, PMID:9185756, PMID:9212218, PMID:9324288, PMID:9328469, PMID:9366518, PMID:9389568, PMID:9416844, PMID:9425228, PMID:9439668, PMID:9473234, PMID:9516223, PMID:9603434, PMID:9622062, PMID:9660926, PMID:9699728, PMID:9751050, PMID:9782052, PMID:9808520, PMID:9823374, PMID:9856796, PMID:9856841, PMID:9916806, PMID:9935245, PMID:10070944, PMID:10229204, PMID:10360174, PMID:10389768, PMID:10390011, PMID:10398427, PMID:10400925, PMID:10491434, PMID:10498896, PMID:10508477, PMID:10627132, PMID:10719365, PMID:10738302, PMID:10854221, PMID:10861313, PMID:10869234, PMID:10871849, PMID:10874641, PMID:10892805, PMID:10922411, PMID:10951521, PMID:10956390, PMID:11008905, PMID:11075991, PMID:11113205, PMID:11136714, PMID:11156381, PMID:11319798, PMID:11360201, PMID:11477665, PMID:11500805, PMID:11506491, PMID:11511321, PMID:11518711, PMID:11556834, PMID:11571653, PMID:11579459, PMID:11595726, PMID:11687599, PMID:11726555, PMID:11807902, PMID:11815963, PMID:12001124, PMID:12019208, PMID:12072543, PMID:12175554, PMID:12352668, PMID:12417040, PMID:12417717, PMID:12454511, PMID:12461329, PMID:12485439, PMID:12532425, PMID:12549483, PMID:12556369, PMID:12606942, PMID:12673200, PMID:12700603, PMID:12853981, PMID:12894891, PMID:14506702, PMID:14508519, PMID:14584079, PMID:14679123, PMID:14722037, PMID:14735200, PMID:14745721, PMID:15009729, PMID:15075790, PMID:15122588, PMID:15140233, PMID:15140239, PMID:15146471, PMID:15150307, PMID:15173226, PMID:15235029, PMID:15298727, PMID:15304098, PMID:15705881, PMID:15761864, PMID:15856016, PMID:15860862, PMID:15937071, PMID:15945100, PMID:16032697, PMID:16169933, PMID:16214921, PMID:16234564, PMID:16307646, PMID:16354195, PMID:16397522, PMID:16614725, PMID:16818274, PMID:16893909, PMID:16896043, PMID:16905682, PMID:17047042, PMID:17055252, PMID:17167857, PMID:17171691, PMID:17218939, PMID:17255954, PMID:17276542, PMID:17370310, PMID:17397031, PMID:17440112, PMID:17492760, PMID:17624602, PMID:17713569, PMID:17909018, PMID:17992122, PMID:18023021, PMID:18025365, PMID:18178632, PMID:18335566, PMID:18337833, PMID:18363633, PMID:18519632, PMID:18573309, PMID:18803811, PMID:18813118, PMID:18843795, PMID:18951449, PMID:18981015, PMID:18983535, PMID:19043591, PMID:19141585, PMID:19158841, PMID:19260062, PMID:19260067, PMID:19320745, PMID:19360740, PMID:19484507, PMID:19500876, PMID:19523171, PMID:19571771, PMID:19690981, PMID:19712690, PMID:19759551, PMID:19799798, PMID:20093296, PMID:20132244, PMID:20340136, PMID:20340316, PMID:20505745, PMID:20522552, PMID:20526219, PMID:20539244, PMID:20653773, PMID:20876876, PMID:21085193, PMID:21150883, PMID:21325014, PMID:21462282, PMID:21503581, PMID:21609436, PMID:21614589, PMID:21619050, PMID:21801156, PMID:21893440, PMID:22292911, PMID:22368299, PMID:22447455, PMID:22561520, PMID:22636603, PMID:22703879, PMID:22804906, PMID:22841127, PMID:22995991, PMID:23190892, PMID:23371019, PMID:23613284, PMID:23757202, PMID:23897584, PMID:24033266, PMID:24185512, PMID:24436120, PMID:24569790, PMID:24659262, PMID:24660985, PMID:24728327, PMID:24733792, PMID:24737347, PMID:24935963, PMID:25064638, PMID:25149524, PMID:25157968, PMID:25186627, PMID:25227142, PMID:25294512, PMID:25318351, PMID:25356972, PMID:25370744, PMID:25372287, PMID:25479140, PMID:25503501, PMID:25741868, PMID:25780468, PMID:25787093, PMID:25803691, PMID:25813228, PMID:25846456, PMID:25877891, PMID:25980754, PMID:26104880, PMID:26206375, PMID:26225579, PMID:26295973, PMID:26381259, PMID:26467025, PMID:26474073, PMID:26483394, PMID:26498684, PMID:26542317, PMID:26581427, PMID:26601054, PMID:26619011, PMID:26650189, PMID:26650572, PMID:26658419, PMID:26670561, PMID:26681309, PMID:26775776, PMID:26800492, PMID:26845104, PMID:26876133, PMID:26892650, PMID:26907448, PMID:26976419, PMID:27045317, PMID:27077911, PMID:27083775, PMID:27181379, PMID:27267843, PMID:27287845, PMID:27473757, PMID:27519597, PMID:27568332, PMID:27626068, PMID:27701467, PMID:27756164, PMID:27804060, PMID:27960642, PMID:27978560, PMID:28060055, PMID:28135145, PMID:28146043, PMID:28188106, PMID:28410231, PMID:28440912, PMID:28492532, PMID:28521409, PMID:28592523, PMID:28599463, PMID:28640387, PMID:28726808, PMID:28765326, PMID:28767289, PMID:28830827, PMID:28866070, PMID:28873162, PMID:28944238, PMID:28979722, PMID:29091774, PMID:29263814, PMID:29464027, PMID:29506128, PMID:29533785, PMID:29541281, PMID:29661971, PMID:29758216, PMID:29774366, PMID:29922827, PMID:29961768, PMID:29983899, PMID:30038052, PMID:30207590, PMID:30274933, PMID:30303537, PMID:30311386, PMID:30339520, PMID:30709382, PMID:31382929, PMID:31775759, PMID:31921681, PMID:109563903 NCBI chr 4:89,274,473...89,294,619
Ensembl chr 4:89,274,471...89,294,653
JBrowse link
G Fanca Fanconi anemia, complementation group A ISO ClinVar Annotator: match by term: Cutaneous malignant melanoma 5 ClinVar PMID:28492532 NCBI chr 8:123,266,294...123,318,651
Ensembl chr 8:123,268,300...123,318,576
JBrowse link
G Klc1 kinesin light chain 1 ISO ClinVar Annotator: match by term: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 6 ClinVar PMID:11059748 NCBI chr12:111,758,435...111,807,844
Ensembl chr12:111,758,849...111,807,844
JBrowse link
G Mc1r melanocortin 1 receptor ISO ClinVar Annotator: match by term: Cutaneous malignant melanoma 5
ClinVar Annotator: match by term: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 5
OMIM
ClinVar
PMID:7581459, PMID:8894704, PMID:8944016, PMID:8990005, PMID:9032047, PMID:9302268, PMID:9571181, PMID:9665397, PMID:10403794, PMID:10631149, PMID:10733465, PMID:10816645, PMID:11030758, PMID:11254446, PMID:11487574, PMID:11511307, PMID:11707265, PMID:11933208, PMID:12687585, PMID:12839583, PMID:12851329, PMID:12876664, PMID:14757863, PMID:14961558, PMID:14975928, PMID:15221796, PMID:15957185, PMID:15979202, PMID:15994880, PMID:15998953, PMID:16172233, PMID:16280005, PMID:16309897, PMID:16463023, PMID:16567973, PMID:16595073, PMID:16601669, PMID:16645598, PMID:16809487, PMID:16982779, PMID:16988943, PMID:17072629, PMID:17279550, PMID:17316231, PMID:17434924, PMID:17496785, PMID:17616515, PMID:17952075, PMID:18067130, PMID:18366057, PMID:18402696, PMID:18795926, PMID:18803811, PMID:18839200, PMID:18983535, PMID:19194882, PMID:19269164, PMID:19320745, PMID:19338054, PMID:19493000, PMID:19585506, PMID:19656326, PMID:19710684, PMID:19799798, PMID:19924138, PMID:20043015, PMID:20158590, PMID:20457063, PMID:20629734, PMID:20876876, PMID:21128237, PMID:21672182, PMID:21749400, PMID:22079958, PMID:22095472, PMID:22095742, PMID:22493355, PMID:22547573, PMID:22854540, PMID:22978401, PMID:23312576, PMID:23360207, PMID:23522749, PMID:23647022, PMID:23711066, PMID:24033266, PMID:24045876, PMID:24238329, PMID:24335900, PMID:24439955, PMID:24617981, PMID:24982914, PMID:25268584, PMID:25284244, PMID:25631192, PMID:25736238, PMID:25741868, PMID:25794181, PMID:26103569, PMID:26197705, PMID:26389967, PMID:26546047, PMID:26800492, PMID:27084066, PMID:27229376, PMID:27473757, PMID:28242083, PMID:28492532, PMID:29340229 NCBI chr 8:123,407,082...123,410,744
Ensembl chr 8:123,407,107...123,410,744
JBrowse link
G Mitf melanogenesis associated transcription factor susceptibility ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: MELANOMA AND RENAL CELL CARCINOMA, SUSCEPTIBILITY TO
CTD
ClinVar
OMIM
PMID:2440678, PMID:22012259, PMID:22080950, PMID:22158021, PMID:23167872, PMID:23774529, PMID:23787126, PMID:23802662, PMID:24033266, PMID:24290354, PMID:24352080, PMID:24406078, PMID:24660985, PMID:24767713, PMID:25407435, PMID:25741868, PMID:25803691, PMID:25975176, PMID:26650189, PMID:26775776, PMID:26800492, PMID:26999813, PMID:27473757, PMID:27680874, PMID:28125078, PMID:28376192, PMID:28492532, PMID:29706638, PMID:30414346 NCBI chr 6:97,807,002...98,021,360
Ensembl chr 6:97,807,052...98,021,349
JBrowse link
G Pot1a protection of telomeres 1A susceptibility ISO ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:23502782, PMID:24686846, PMID:24686849, PMID:25244922, PMID:25482530, PMID:25741868, PMID:25877891, PMID:27239034, PMID:27329137, PMID:27528712, PMID:27869160, PMID:28393830, PMID:28393832, PMID:28492532, PMID:28853721, PMID:29036293, PMID:29523635, PMID:29693246 NCBI chr 6:25,743,940...25,809,277
Ensembl chr 6:25,743,737...25,809,246
JBrowse link
G Spire2 spire type actin nucleation factor 2 ISO ClinVar Annotator: match by term: Cutaneous malignant melanoma 5 ClinVar PMID:28492532 NCBI chr 8:123,332,713...123,369,518
Ensembl chr 8:123,332,713...123,369,515
JBrowse link
G Tcf25 transcription factor 25 (basic helix-loop-helix) ISO ClinVar Annotator: match by term: Cutaneous malignant melanoma 5 ClinVar PMID:28492532 NCBI chr 8:123,370,772...123,404,174
Ensembl chr 8:123,373,753...123,403,835
JBrowse link
G Tert telomerase reverse transcriptase ISO ClinVar Annotator: match by term: Cutaneous malignant melanoma 9 ClinVar
OMIM
PMID:23348503 NCBI chr13:73,626,911...73,649,843
Ensembl chr13:73,626,911...73,649,843
JBrowse link
G Tspan31 tetraspanin 31 ISO ClinVar Annotator: match by term: Cutaneous Malignant Melanoma, Dominant
ClinVar Annotator: match by term: Hereditary cutaneous melanoma
ClinVar PMID:20668451, PMID:21520333, PMID:23718828, PMID:24728327, PMID:24755471, PMID:25318351, PMID:25741868, PMID:25980754, PMID:26252490, PMID:26467025, PMID:28166811, PMID:28492532, PMID:29917049 NCBI chr10:127,067,287...127,070,972
Ensembl chr10:127,067,280...127,070,264
JBrowse link
G Tyr tyrosinase ISO ClinVar Annotator: match by term: MELANOMA AND RENAL CELL CARCINOMA, SUSCEPTIBILITY TO ClinVar PMID:666627, PMID:1429711, PMID:1820207, PMID:7704033, PMID:9158138, PMID:10766867, PMID:17952075, PMID:18326704, PMID:18488027, PMID:18488028, PMID:18925668, PMID:19208379, PMID:19533789, PMID:21541274, PMID:23504663, PMID:25216246, PMID:25741868, PMID:30311386 NCBI chr 7:87,424,771...87,493,512
Ensembl chr 7:87,424,771...87,493,512
JBrowse link
G Xrcc3 X-ray repair complementing defective repair in Chinese hamster cells 3 ISO ClinVar Annotator: match by OMIM:613972 ClinVar
OMIM
PMID:11059748 NCBI chr12:111,803,192...111,813,893
Ensembl chr12:111,803,192...111,813,873
JBrowse link
Fanconi-like syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slx1b SLX1 structure-specific endonuclease subunit homolog B (S. cerevisiae) IEA OMIM:227850 MouseDO NCBI chr 7:126,688,927...126,695,783
Ensembl chr 7:126,689,468...126,695,784
JBrowse link
G Slx4 SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae) IEA OMIM:227850 MouseDO NCBI chr16:3,979,105...4,003,829
Ensembl chr16:3,979,105...4,003,770
JBrowse link
Ferguson-Smith tumor term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tgfbr1 transforming growth factor, beta receptor I susceptibility ISO ClinVar Annotator: match by OMIM:132800
ClinVar Annotator: match by term: Multiple self healing squamous epithelioma
ClinVar Annotator: match by term: MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO
CTD Direct Evidence: marker/mechanism
ClinVar
OMIM
CTD
PMID:2647812, PMID:5173258, PMID:8499949, PMID:16928994, PMID:19542084, PMID:21358634, PMID:23884466, PMID:24033266, PMID:24793577, PMID:25110237, PMID:25741868, PMID:25834947, PMID:26848186, PMID:26877057, PMID:27611364, PMID:28492532 NCBI chr 4:47,353,222...47,414,926
Ensembl chr 4:47,353,222...47,414,931
JBrowse link
hemangioblastoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hif1a hypoxia inducible factor 1, alpha subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:15341671 NCBI chr12:73,901,324...73,947,554
Ensembl chr12:73,901,375...73,947,530
JBrowse link
G Ndrg1 N-myc downstream regulated gene 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15341671 NCBI chr15:66,929,318...66,969,641
Ensembl chr15:66,929,318...66,969,640
JBrowse link
Hereditary Leiomyomatosis and Renal Cell Cancer term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chml choroideremia-like ISO ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer ClinVar PMID:29909963 NCBI chr 1:175,682,237...175,688,353
Ensembl chr 1:175,682,237...175,692,901
JBrowse link
G Chrm3 cholinergic receptor, muscarinic 3, cardiac ISO ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer ClinVar PMID:29909963 NCBI chr13:9,875,486...10,361,062
Ensembl chr13:9,875,486...10,360,847
JBrowse link
G Exo1 exonuclease 1 ISO ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer ClinVar PMID:29909963 NCBI chr 1:175,880,768...175,911,396
Ensembl chr 1:175,880,581...175,913,489
JBrowse link
G Fh1 fumarate hydratase 1 ISO DNA:mutations:multiple (human)
ClinVar Annotator: match by term: Leiomyoma, multiple cutaneous
ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: MULTIPLE CUTANEOUS AND UTERINE LEIOMYOMATA 1, WITH OR WITHOUT RENAL CELL CARCINOMA
ClinVar
CTD
OMIM
PMID:9635293, PMID:11865300, PMID:12761039, PMID:12772087, PMID:14632190, PMID:15663510, PMID:15761418, PMID:15937070, PMID:16029320, PMID:16288654, PMID:16403393, PMID:16575891, PMID:16597677, PMID:16757530, PMID:16881969, PMID:17270241, PMID:17392716, PMID:17908262, PMID:17960613, PMID:18176756, PMID:18313410, PMID:18414213, PMID:19939761, PMID:19967458, PMID:20549362, PMID:20618355, PMID:21051878, PMID:21304509, PMID:21340633, PMID:21398687, PMID:21404119, PMID:21445611, PMID:21520333, PMID:21630274, PMID:21733559, PMID:21929734, PMID:22069215, PMID:22127509, PMID:22243733, PMID:22528940, PMID:22561013, PMID:22565324, PMID:22595425, PMID:22703879, PMID:22764886, PMID:22982371, PMID:23211287, PMID:24419633, PMID:24441663, PMID:24625422, PMID:24684806, PMID:24728327, PMID:25292446, PMID:25477250, PMID:25525159, PMID:25741868, PMID:25750977, PMID:25852058, PMID:25923021, PMID:26023681, PMID:26173633, PMID:26296701, PMID:26323704, PMID:26457356, PMID:26556299, PMID:26900816, PMID:27037871, PMID:28289076, PMID:28492532, PMID:29423582, PMID:29909963, PMID:30013182, PMID:30967997, PMID:31444830, PMID:15937070 RGD:1598939 NCBI chr 1:175,601,378...175,625,635
Ensembl chr 1:175,600,374...175,625,635
JBrowse link
G Fmn2 formin 2 ISO ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer ClinVar PMID:29909963 NCBI chr 1:174,501,752...174,822,729
Ensembl chr 1:174,501,825...174,822,729
JBrowse link
G Grem2 gremlin 2, DAN family BMP antagonist ISO ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer ClinVar PMID:29909963 NCBI chr 1:174,833,785...174,921,911
Ensembl chr 1:174,833,785...174,921,819
JBrowse link
G Ighv1-47 immunoglobulin heavy variable 1-47 ISO ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer ClinVar PMID:29909963 NCBI chr12:114,991,108...114,991,401
Ensembl chr12:114,991,108...114,991,580
JBrowse link
G Kmo kynurenine 3-monooxygenase (kynurenine 3-hydroxylase) ISO ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer ClinVar PMID:29909963 NCBI chr 1:175,632,193...175,660,853
Ensembl chr 1:175,620,381...175,662,116
JBrowse link
G Opn3 opsin 3 ISO ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer ClinVar PMID:29909963 NCBI chr 1:175,662,421...175,692,901
Ensembl chr 1:175,662,421...175,692,776
JBrowse link
G Pld5 phospholipase D family, member 5 ISO ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer ClinVar PMID:29909963 NCBI chr 1:175,962,301...176,281,512
Ensembl chr 1:175,962,306...176,275,312
JBrowse link
G Rgs7 regulator of G protein signaling 7 ISO ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer ClinVar PMID:29909963 NCBI chr 1:175,059,076...175,492,862
Ensembl chr 1:175,059,087...175,492,500
JBrowse link
G Ryr2 ryanodine receptor 2, cardiac ISO ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer ClinVar PMID:29909963 NCBI chr13:11,553,099...12,106,945
Ensembl chr13:11,553,102...12,106,945
JBrowse link
G Wdr64 WD repeat domain 64 ISO ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer ClinVar PMID:29909963 NCBI chr 1:175,698,569...175,815,734
Ensembl chr 1:175,698,593...175,815,734
JBrowse link
large congenital melanocytic nevus term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hras Harvey rat sarcoma virus oncogene ISO ClinVar Annotator: match by term: MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC OMIM
ClinVar
PMID:12210337, PMID:14608654, PMID:16155195, PMID:16170316, PMID:16329078, PMID:16372351, PMID:16443854, PMID:16835863, PMID:17211612, PMID:17250658, PMID:17384584, PMID:17979197, PMID:18039947, PMID:18042262, PMID:18470943, PMID:19213030, PMID:19255327, PMID:19382114, PMID:19773371, PMID:21403836, PMID:21438134, PMID:21495179, PMID:21850009, PMID:22317973, PMID:22499344, PMID:22683711, PMID:22926243, PMID:23093928, PMID:23406027, PMID:23429430, PMID:24033266, PMID:24169525, PMID:24224811, PMID:25157968, PMID:25326635, PMID:25346259, PMID:25741868, PMID:25914166, PMID:26619011, PMID:27195699, PMID:27589201, PMID:28027064, PMID:28390077, PMID:28492532, PMID:29073591, PMID:29493581, PMID:168335863 NCBI chr 7:141,189,934...141,194,019
Ensembl chr 7:141,189,105...141,194,005
JBrowse link
G Lrrc56 leucine rich repeat containing 56 ISO ClinVar Annotator: match by term: MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC ClinVar PMID:12210337, PMID:14608654, PMID:16155195, PMID:16170316, PMID:16329078, PMID:16372351, PMID:16443854, PMID:16835863, PMID:17211612, PMID:17250658, PMID:17384584, PMID:17979197, PMID:18039947, PMID:18042262, PMID:18470943, PMID:19213030, PMID:19255327, PMID:19382114, PMID:19773371, PMID:21403836, PMID:21438134, PMID:21495179, PMID:21850009, PMID:22317973, PMID:22499344, PMID:22683711, PMID:22926243, PMID:23093928, PMID:23406027, PMID:23429430, PMID:24033266, PMID:24169525, PMID:24224811, PMID:25157968, PMID:25326635, PMID:25346259, PMID:25741868, PMID:25914166, PMID:26619011, PMID:27195699, PMID:27589201, PMID:28027064, PMID:28390077, PMID:28492532, PMID:29073591, PMID:29493581, PMID:168335863 NCBI chr 7:141,194,111...141,210,055
Ensembl chr 7:141,194,157...141,210,055
JBrowse link
G Nras neuroblastoma ras oncogene ISO ClinVar Annotator: match by term: Giant pigmented hairy nevus
ClinVar Annotator: match by term: MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC
OMIM
ClinVar
PMID:1654209, PMID:2278970, PMID:2674680, PMID:3102434, PMID:3122217, PMID:6587382, PMID:8120410, PMID:10821536, PMID:12460918, PMID:12727991, PMID:14508525, PMID:15899789, PMID:16273091, PMID:16291983, PMID:16434492, PMID:17699718, PMID:18390968, PMID:18633438, PMID:18668139, PMID:18948947, PMID:19075190, PMID:19657110, PMID:19880792, PMID:20130576, PMID:20179705, PMID:20619739, PMID:20736745, PMID:21107323, PMID:21305640, PMID:21576590, PMID:21729679, PMID:21829508, PMID:22407852, PMID:22499344, PMID:22718121, PMID:22761467, PMID:22773810, PMID:22962325, PMID:23392294, PMID:23400451, PMID:23414587, PMID:23515407, PMID:23538902, PMID:23569304, PMID:23614898, PMID:24006476, PMID:24033266, PMID:24148783, PMID:24671188, PMID:25157968, PMID:25348872, PMID:25695684, PMID:26619011, PMID:26821351, PMID:27050078, PMID:28492532, PMID:28780248 NCBI chr 3:103,058,285...103,067,914
Ensembl chr 3:103,058,285...103,067,914
JBrowse link
leiomyoma cutis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fh1 fumarate hydratase 1 ISO ClinVar Annotator: match by term: Cutaneous leiomyoma
ClinVar Annotator: match by term: Multiple cutaneous leiomyomas
ClinVar PMID:11865300, PMID:12761039, PMID:16575891, PMID:21929734, PMID:22069215, PMID:22595425, PMID:22703879, PMID:24728327, PMID:25741868, PMID:27037871, PMID:28492532, PMID:29909963, PMID:30967997 NCBI chr 1:175,601,378...175,625,635
Ensembl chr 1:175,600,374...175,625,635
JBrowse link
Malignant Granular Cell Tumor term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Brd7 bromodomain containing 7 ISO ClinVar Annotator: match by term: malignant granular cell tumor ClinVar NCBI chr 8:88,329,894...88,362,252
Ensembl chr 8:88,331,039...88,362,194
JBrowse link
Merkel cell carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgfr3 fibroblast growth factor receptor 3 ISO mRNA:decreased expression:skin (human) RGD PMID:28359267 RGD:38500206 NCBI chr 5:33,721,724...33,737,068
Ensembl chr 5:33,721,674...33,737,068
JBrowse link
G Myc myelocytomatosis oncogene ISO CTD Direct Evidence: marker/mechanism CTD PMID:25277525 NCBI chr15:61,985,341...61,990,361
Ensembl chr15:61,985,391...61,990,374
JBrowse link
G Spa17 sperm autoantigenic protein 17 ISO mRNA,protein:increased expression:nucleus RGD PMID:31218705 RGD:27226803 NCBI chr 9:37,603,294...37,613,916
Ensembl chr 9:37,603,290...37,613,722
JBrowse link
Muir-Torre syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fhit fragile histidine triad gene IEA OMIM:158320 MouseDO NCBI chr14:9,550,092...11,162,061
Ensembl chr14:9,550,092...11,162,035
JBrowse link
G Mlh1 mutL homolog 1 ISO ClinVar Annotator: match by term: Cutaneous sebaceous neoplasms and keratoacanthomas multiple with gastrointestinal and other carcinomas
ClinVar Annotator: match by term: Muir-Torré syndrome
OMIM
ClinVar
PMID:16, PMID:1522200, PMID:4063166, PMID:5713769, PMID:7705822, PMID:8198129, PMID:8751876, PMID:8880570, PMID:9377556, PMID:9526167, PMID:9697702, PMID:9777949, PMID:10037723, PMID:10348818, PMID:10422993, PMID:10612827, PMID:10713887, PMID:10861474, PMID:10995807, PMID:11139242, PMID:11208710, PMID:11427529, PMID:11585727, PMID:11726306, PMID:11748856, PMID:11839723, PMID:11920458, PMID:11920650, PMID:12037578, PMID:12095971, PMID:12362047, PMID:12624141, PMID:12658575, PMID:12810663, PMID:12874865, PMID:14635101, PMID:14762794, PMID:15139004, PMID:15173238, PMID:15184898, PMID:15222003, PMID:15254659, PMID:15340264, PMID:15345113, PMID:15475387, PMID:15520370, PMID:15613555, PMID:15713769, PMID:15845562, PMID:15849733, PMID:15864295, PMID:15870828, PMID:15991306, PMID:15996210, PMID:16083711, PMID:16142001, PMID:16181381, PMID:16203774, PMID:16206289, PMID:16216036, PMID:16288214, PMID:16341550, PMID:16395668, PMID:16451135, PMID:16724012, PMID:16995940, PMID:17054581, PMID:17074586, PMID:17117178, PMID:17192056, PMID:17210669, PMID:17250665, PMID:17312306, PMID:17453009, PMID:17473388, PMID:17505997, PMID:17510385, PMID:17594722, PMID:18033691, PMID:18069769, PMID:18094436, PMID:18307539, PMID:18383312, PMID:18389388, PMID:18561205, PMID:18566915, PMID:18726168, PMID:18809606, PMID:19116412, PMID:19224586, PMID:19250818, PMID:19267393, PMID:19419416, PMID:19669161, PMID:19690142, PMID:19697156, PMID:20373145, PMID:20533529, PMID:20858721, PMID:21034533, PMID:21120944, PMID:21404117, PMID:21475916, PMID:21636617, PMID:21642682, PMID:21681552, PMID:22086678, PMID:22136435, PMID:22252508, PMID:22290698, PMID:22703879, PMID:22736432, PMID:22753075, PMID:22776989, PMID:22875147, PMID:22949379, PMID:22949387, PMID:23047549, PMID:23354017, PMID:23403630, PMID:23523604, PMID:23729658, PMID:23760103, PMID:24032978, PMID:24033266, PMID:24090359, PMID:24344984, PMID:24362816, PMID:24440087, PMID:24549055, PMID:24728327, PMID:24933000, PMID:25115387, PMID:25133505, PMID:25142776, PMID:25157968, PMID:25186627, PMID:25430799, PMID:25477341, PMID:25503501, PMID:25525159, PMID:25559809, PMID:25579085, PMID:25741868, PMID:25823662, PMID:25871621, PMID:25980754, PMID:26053027, PMID:26332594, PMID:26333163, PMID:26437257, PMID:26467025, PMID:26485756, PMID:26580448, PMID:26681312, PMID:26817999, PMID:26845104, PMID:26898890, PMID:26976419, PMID:27064304, PMID:27121310, PMID:27152634, PMID:27498913, PMID:27601186, PMID:27629256, PMID:27732944, PMID:27831900, PMID:27978560, PMID:28135145, PMID:28466842, PMID:28492532, PMID:28724667, PMID:28767289, PMID:28822769, PMID:28874130, PMID:29288294, PMID:29360550, PMID:29419868, PMID:29520894, PMID:29596542, PMID:29887214, PMID:30093976, PMID:30720243, PMID:30998989, PMID:31391288, PMID:31784484, PMID:32566746 NCBI chr 9:111,228,228...111,271,786
Ensembl chr 9:111,228,228...111,271,791
JBrowse link
G Msh2 mutS homolog 2 ISO ClinVar Annotator: match by term: Cutaneous sebaceous neoplasms and keratoacanthomas multiple with gastrointestinal and other carcinomas
ClinVar Annotator: match by term: Muir-Torré syndrome
OMIM
ClinVar
PMID:6096739, PMID:7585065, PMID:7713503, PMID:8062247, PMID:8261515, PMID:8566964, PMID:8592341, PMID:8993976, PMID:9002677, PMID:9217825, PMID:9288790, PMID:9718327, PMID:9739019, PMID:10080150, PMID:10323887, PMID:10375096, PMID:10397236, PMID:10480359, PMID:10528862, PMID:10573010, PMID:10793088, PMID:10978353, PMID:11151427, PMID:11291077, PMID:11601928, PMID:11691782, PMID:12112654, PMID:12132870, PMID:12362047, PMID:12454801, PMID:12522549, PMID:12624141, PMID:12658575, PMID:14970868, PMID:14994245, PMID:15235030, PMID:15254659, PMID:15516845, PMID:15520224, PMID:15520370, PMID:15655560, PMID:15713769, PMID:15731775, PMID:15845562, PMID:15849733, PMID:15855432, PMID:15872200, PMID:15929773, PMID:15942939, PMID:15955785, PMID:16034045, PMID:16199548, PMID:16203774, PMID:16216036, PMID:16395668, PMID:16451135, PMID:16574953, PMID:16614121, PMID:16636019, PMID:16736289, PMID:16830052, PMID:16996571, PMID:17101317, PMID:17192056, PMID:17250661, PMID:17312306, PMID:17414604, PMID:17473388, PMID:17569143, PMID:17594722, PMID:17720936, PMID:18033691, PMID:18270343, PMID:18289827, PMID:18325052, PMID:18383312, PMID:18674656, PMID:18772310, PMID:18951462, PMID:19101824, PMID:19267393, PMID:19389263, PMID:19419416, PMID:19459153, PMID:19669161, PMID:19698169, PMID:19723918, PMID:19731080, PMID:19760518, PMID:20007843, PMID:20068152, PMID:20176959, PMID:20223024, PMID:20587412, PMID:20591884, PMID:20850175, PMID:21120944, PMID:21239990, PMID:21419771, PMID:21590452, PMID:21598002, PMID:21642682, PMID:21681552, PMID:21788563, PMID:21926548, PMID:22034109, PMID:22039344, PMID:22102614, PMID:22144684, PMID:22219001, PMID:22290698, PMID:22581703, PMID:22703879, PMID:22949379, PMID:22949387, PMID:23047549, PMID:23990280, PMID:24033266, PMID:24040339, PMID:24278394, PMID:24326041, PMID:24344984, PMID:24362816, PMID:24415873, PMID:24474082, PMID:24506336, PMID:24549055, PMID:24710284, PMID:24728327, PMID:24763289, PMID:24851142, PMID:24933000, PMID:24953332, PMID:25093288, PMID:25110875, PMID:25117503, PMID:25133505, PMID:25194673, PMID:25430799, PMID:25479140, PMID:25503501, PMID:25525159, PMID:25637381, PMID:25741868, PMID:26094658, PMID:26096739, PMID:26250988, PMID:26332594, PMID:26333163, PMID:26344056, PMID:26437257, PMID:26467025, PMID:26517685, PMID:26580448, PMID:26845104, PMID:26878173, PMID:26898890, PMID:26951660, PMID:27016151, PMID:27153395, PMID:27328445, PMID:27600092, PMID:27601186, PMID:27606285, PMID:28125075, PMID:28195393, PMID:28202063, PMID:28449805, PMID:28492532, PMID:28494185, PMID:28640387, PMID:28767289, PMID:28874130, PMID:28944238, PMID:29212164, PMID:29238914, PMID:29368341, PMID:29458332, PMID:29489754, PMID:29684080, PMID:29887214, PMID:29889250, PMID:29945567, PMID:30093976, PMID:30131383, PMID:30238922, PMID:30306255, PMID:30374176, PMID:30376427, PMID:30998989, PMID:31366136, PMID:31422574 NCBI chr17:87,672,532...87,723,713
Ensembl chr17:87,672,330...87,723,713
JBrowse link
Multiple Self-healing Palmoplantar Carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nlrp1a NLR family, pyrin domain containing 1A ISO ClinVar Annotator: match by term: Palmoplantar carcinoma, multiple self-healing
ClinVar Annotator: match by term: Corneal intraepithelial dyskeratosis and ectodermal dysplasia
OMIM
ClinVar
PMID:17377159, PMID:23349227, PMID:25050600, PMID:25741868, PMID:27662089 NCBI chr11:71,091,197...71,144,969
Ensembl chr11:71,092,236...71,144,704
JBrowse link
Nasopalpebral Lipoma Coloboma Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Zdbf2 zinc finger, DBF-type containing 2 ISO ClinVar Annotator: match by term: Nasopalpebral lipoma coloboma syndrome ClinVar PMID:23636874, PMID:27139419 NCBI chr 1:63,200,358...63,314,576
Ensembl chr 1:63,273,265...63,314,576
JBrowse link
neurilemmomatosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lztr1 leucine-zipper-like transcriptional regulator, 1 susceptibility ISO ClinVar Annotator: match by OMIM:615670
ClinVar Annotator: match by term: Schwannomatosis
ClinVar Annotator: match by term: Schwannomatosis 2
CTD Direct Evidence: marker/mechanism
ClinVar
OMIM
CTD
PMID:16356934, PMID:18072270, PMID:19582488, PMID:22105938, PMID:23401320, PMID:24362817, PMID:25335493, PMID:25480913, PMID:25741868, PMID:25795793, PMID:27472264, PMID:27856782, PMID:27921248, PMID:28295212, PMID:28492532, PMID:29384852, PMID:29409008, PMID:30368668, PMID:30442762, PMID:30442766, PMID:30481304, PMID:30859559, PMID:31128261, PMID:31438995, PMID:31825158 NCBI chr16:17,508,260...17,526,333
Ensembl chr16:17,508,688...17,526,333
JBrowse link
G Nf2 neurofibromin 2 ISO ClinVar Annotator: match by term: Schwannomatosis 1
ClinVar Annotator: match by OMIM:162091
OMIM
ClinVar
PMID:7798645, PMID:9399891, PMID:25741868 NCBI chr11:4,757,639...4,849,544
Ensembl chr11:4,765,845...4,849,536
JBrowse link
G Smarcb1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 ISO ClinVar Annotator: match by term: Schwannomatosis 1
ClinVar Annotator: match by OMIM:162091
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: SCHWANNOMATOSIS 1, SOMATIC
OMIM
ClinVar
CTD
PMID:17357086, PMID:18285426, PMID:18414213, PMID:18647326, PMID:19124645, PMID:19582488, PMID:20930055, PMID:22038540, PMID:22434358, PMID:22949514, PMID:24362817, PMID:24728327, PMID:24933152, PMID:25741868, PMID:26073604, PMID:28492532, PMID:29517885 NCBI chr10:75,896,769...75,921,614
Ensembl chr10:75,896,769...75,921,617
JBrowse link
nevoid basal cell carcinoma syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aopep aminopeptidase O ISO ClinVar Annotator: match by term: Gorlin syndrome ClinVar PMID:17703323, PMID:22382802, PMID:28492532 NCBI chr13:62,964,893...63,326,096
Ensembl chr13:62,964,893...63,326,096
JBrowse link
G Fancc Fanconi anemia, complementation group C ISO ClinVar Annotator: match by term: Gorlin syndrome ClinVar PMID:17703323, PMID:22382802, PMID:28492532 NCBI chr13:63,301,334...63,497,292
Ensembl chr13:63,285,043...63,497,278
JBrowse link
G Gli1 GLI-Kruppel family member GLI1 ISO RGD PMID:15308259 RGD:12801443 NCBI chr10:127,329,882...127,341,579
Ensembl chr10:127,329,882...127,341,974
JBrowse link
G Gli2 GLI-Kruppel family member GLI2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16936257 NCBI chr 1:118,834,061...119,054,405
Ensembl chr 1:118,834,132...119,053,619
JBrowse link
G Ptch1 patched 1 ISO
IEA
IMP
ClinVar Annotator: match by term: Gorlin syndrome
ClinVar Annotator: match by term: Fifth Phacomatosis
OMIM:109400
ClinVar Annotator: match by term: Basal cell nevus syndrome
DNA: splice-site mutation :exon
DNA: nonsense mutation:exon:p.W399* (human)
DNA:missense mutation:exon:p.E237EK (897G>A) (human)
DNA:mutations:exon, intron:multiple
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:109400
OMIM
ClinVar
MouseDO
CTD
PMID:1347096, PMID:8302318, PMID:8658145, PMID:8681379, PMID:8840969, PMID:8981943, PMID:9096761, PMID:9231911, PMID:9341860, PMID:9415689, PMID:9463336, PMID:9620294, PMID:10048928, PMID:10200051, PMID:10564585, PMID:11231326, PMID:11457640, PMID:11941477, PMID:12192414, PMID:12204003, PMID:12655573, PMID:12879481, PMID:12900905, PMID:12925203, PMID:15042702, PMID:15459969, PMID:15545745, PMID:15565302, PMID:15712338, PMID:16088933, PMID:16203740, PMID:16231297, PMID:16301862, PMID:16405370, PMID:16419085, PMID:16508594, PMID:16909134, PMID:16929110, PMID:16931872, PMID:16936257, PMID:17001668, PMID:17021131, PMID:17096318, PMID:17703323, PMID:18302678, PMID:18373848, PMID:18477452, PMID:18502968, PMID:18510667, PMID:18539553, PMID:18830227, PMID:19002359, PMID:19287498, PMID:19346217, PMID:19557015, PMID:20068110, PMID:20301330, PMID:20485063, PMID:21188540, PMID:21520333, PMID:21567912, PMID:22313357, PMID:22382802, PMID:22572734, PMID:22675565, PMID:22703879, PMID:22820256, PMID:22829011, PMID:22952776, PMID:22995991, PMID:23061468, PMID:23313819, PMID:23334667, PMID:23761049, PMID:23951062, PMID:24033266, PMID:24055113, PMID:24204797, PMID:24335643, PMID:24368541, PMID:24529220, PMID:24668667, PMID:24728327, PMID:24814739, PMID:24942795, PMID:25117323, PMID:25131638, PMID:25260786, PMID:25326635, PMID:25403219, PMID:25525159, PMID:25559776, PMID:25567908, PMID:25637381, PMID:25741868, PMID:25876211, PMID:26356331, PMID:26489027, PMID:26544948, PMID:26604511, PMID:26802149, PMID:26893459, PMID:26997948, PMID:27028851, PMID:27153395, PMID:27535533, PMID:27561271, PMID:27793025, PMID:27930734, PMID:28342698, PMID:28492532, PMID:28596197, PMID:28690523, PMID:28733979, PMID:28873162, PMID:29212164, PMID:29575684, PMID:29654263, PMID:29983323, PMID:30166346, PMID:30311386, PMID:30411536, PMID:31837199, PMID:23897749, PMID:19557015, PMID:15308259, PMID:21514272, PMID:12925203 RGD:13207424, RGD:13207421, RGD:12801443, RGD:12801422, RGD:12798568 NCBI chr13:63,508,328...63,573,460
Ensembl chr13:63,508,328...63,573,598
JBrowse link
G Ptch2 patched 2 ISO ClinVar Annotator: match by term: Gorlin syndrome
ClinVar Annotator: match by OMIM:109400
OMIM
ClinVar
PMID:18285427, PMID:25741868, PMID:28492532 NCBI chr 4:117,096,056...117,116,101
Ensembl chr 4:117,096,075...117,116,101
JBrowse link
G Pth parathyroid hormone ISO CTD Direct Evidence: marker/mechanism CTD PMID:24803734 NCBI chr 7:113,385,576...113,388,672
Ensembl chr 7:113,385,580...113,388,570
JBrowse link
G Shh sonic hedgehog IMP RGD PMID:9115210 RGD:12802345 NCBI chr 5:28,456,840...28,467,101
Ensembl chr 5:28,456,815...28,467,256
JBrowse link
G Smo smoothened, frizzled class receptor ISO RGD PMID:15308259 RGD:12801443 NCBI chr 6:29,735,497...29,761,366
Ensembl chr 6:29,735,503...29,761,365
JBrowse link
G Sufu SUFU negative regulator of hedgehog signaling ISO
IEA
ClinVar Annotator: match by term: Gorlin syndrome
OMIM:109400
OMIM
ClinVar
MouseDO
PMID:12068298, PMID:19533801, PMID:19833601, PMID:21188540, PMID:22508808, PMID:22810696, PMID:23826113, PMID:24728327, PMID:25403219, PMID:25741868, PMID:26184317, PMID:27363716, PMID:27930734, PMID:28050010, PMID:28492532, PMID:28965847, PMID:29641532, PMID:29654263, PMID:30256826 NCBI chr19:46,396,896...46,488,804
Ensembl chr19:46,396,896...46,488,804
JBrowse link
Palmoplantar Hyperkeratosis with Squamous Cell Carcinoma of Skin and Sex Reversal term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rspo1 R-spondin 1 ISO ClinVar Annotator: match by term: Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and 46,XX sex reversal ClinVar
OMIM
PMID:16158431, PMID:17041600 NCBI chr 4:124,986,401...125,009,102
Ensembl chr 4:124,986,430...125,009,099
JBrowse link
pilomatrixoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ctnnb1 catenin (cadherin associated protein), beta 1 ISO ClinVar Annotator: match by term: Pilomatrixoma
ClinVar Annotator: match by term: EPITHELIOMA CALCIFICANS OF MALHERBE
OMIM
ClinVar
PMID:9065402, PMID:9065403, PMID:9294210, PMID:9927029, PMID:10027390, PMID:10192393, PMID:10391090, PMID:10666372, PMID:11351304, PMID:11930117, PMID:11950921, PMID:12124804, PMID:15133491, PMID:25157968, PMID:26619011, PMID:26822237 NCBI chr 9:120,933,400...120,960,507
Ensembl chr 9:120,929,216...120,960,507
JBrowse link
G Mutyh mutY DNA glycosylase ISO ClinVar Annotator: match by term: MUTYH-associated polyposis
ClinVar Annotator: match by term: EPITHELIOMA CALCIFICANS OF MALHERBE
ClinVar PMID:2084865, PMID:3561487, PMID:11818965, PMID:12393807, PMID:12606733, PMID:12853198, PMID:15188161, PMID:15236166, PMID:15366000, PMID:15635083, PMID:15890374, PMID:15931596, PMID:15987719, PMID:16134147, PMID:16140997, PMID:16207212, PMID:16287072, PMID:16338133, PMID:16455870, PMID:16492921, PMID:16557584, PMID:16616356, PMID:16890597, PMID:16941501, PMID:17081686, PMID:17122612, PMID:17161978, PMID:17219385, PMID:17273161, PMID:17368238, PMID:17369389, PMID:17489848, PMID:17581577, PMID:17674103, PMID:17703316, PMID:17874208, PMID:17931073, PMID:17949294, PMID:17956577, PMID:18091433, PMID:18301448, PMID:18414213, PMID:18422726, PMID:18495334, PMID:18506705, PMID:18515411, PMID:18534194, PMID:18564191, PMID:18787472, PMID:18992148, PMID:19032956, PMID:19245865, PMID:19279422, PMID:19394335, PMID:19506731, PMID:19527492, PMID:19531215, PMID:19725997, PMID:19732775, PMID:19793053, PMID:19806110, PMID:19836313, PMID:19953527, PMID:19998059, PMID:20063264, PMID:20418187, PMID:20618354, PMID:20663686, PMID:20725929, PMID:20848659, PMID:21063410, PMID:21171015, PMID:21178863, PMID:21443744, PMID:21520333, PMID:21815886, PMID:21952991, PMID:22158503, PMID:22266422, PMID:22297469, PMID:22473953, PMID:22538434, PMID:22703879, PMID:22744763, PMID:22773231, PMID:22865608, PMID:22926731, PMID:22976915, PMID:23035301, PMID:23108399, PMID:23322991, PMID:23361220, PMID:23507534, PMID:23561487, PMID:23605219, PMID:23625202, PMID:23729658, PMID:23805267, PMID:24033266, PMID:24082139, PMID:24278394, PMID:24444654, PMID:24470512, PMID:24569162, PMID:24691292, PMID:24728327, PMID:24763289, PMID:24799981, PMID:24953332, PMID:25368107, PMID:25525159, PMID:25590978, PMID:25637381, PMID:25741868, PMID:25820570, PMID:25892863, PMID:25980754, PMID:26446593, PMID:26467025, PMID:26556299, PMID:26673696, PMID:26681312, PMID:26689913, PMID:26694661, PMID:26822237, PMID:26845104, PMID:26902849, PMID:27145315, PMID:27194394, PMID:27705013, PMID:27829682, PMID:27870730, PMID:28135145, PMID:28141798, PMID:28152038, PMID:28251689, PMID:28492532, PMID:28533537, PMID:28634180, PMID:29330641, PMID:29406563, PMID:29478780, PMID:30311386, PMID:30487145 NCBI chr 4:116,807,636...116,819,439
Ensembl chr 4:116,807,723...116,819,440
JBrowse link
G Ovol1 ovo like zinc finger 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26873447 NCBI chr19:5,549,137...5,560,575
Ensembl chr19:5,549,136...5,560,646
JBrowse link
G Ovol2 ovo like zinc finger 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26873447 NCBI chr 2:144,305,175...144,332,080
Ensembl chr 2:144,305,175...144,332,146
JBrowse link
Pulmonary Venoocclusive Disease 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eif2ak4 eukaryotic translation initiation factor 2 alpha kinase 4 ISO ClinVar Annotator: match by term: Pulmonary venoocclusive disease 2, autosomal recessive
ClinVar Annotator: match by term: Familial pulmonary capillary hemangiomatosis
ClinVar Annotator: match by OMIM:234810
OMIM
ClinVar
PMID:24033266, PMID:24135949, PMID:24292273, PMID:25512148, PMID:26387786, PMID:32581362 NCBI chr 2:118,388,583...118,475,234
Ensembl chr 2:118,388,618...118,475,234
JBrowse link
Schopf-Schulz-Passarge syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wnt10a wingless-type MMTV integration site family, member 10A ISO ClinVar Annotator: match by term: Schopf-Schulz-Passarge syndrome
ClinVar Annotator: match by term: KERATOSIS PALMOPLANTARIS WITH CYSTIC EYELIDS, HYPODONTIA, AND HYPOTRICHOSIS
ClinVar Annotator: match by OMIM:224750
OMIM
ClinVar
PMID:17847007, PMID:19559398, PMID:20163410, PMID:21484994, PMID:21834823, PMID:22581971, PMID:23167694, PMID:23401279, PMID:24033266, PMID:24043634, PMID:24311251, PMID:24312213, PMID:24398796, PMID:24449199, PMID:24700731, PMID:24702986, PMID:24902757, PMID:25356970, PMID:25545742, PMID:25629078, PMID:25741868, PMID:28105635, PMID:28492532, PMID:30426266 NCBI chr 1:74,792,019...74,804,176
Ensembl chr 1:74,791,516...74,804,179
JBrowse link
Sclerotylosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Smarcad1 SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1 ISO ClinVar Annotator: match by term: Keratoderma with scleroatrophy of the extremities OMIM
ClinVar
PMID:4298032, PMID:8731679, PMID:10631162, PMID:24909267, PMID:29409814 NCBI chr 6:65,042,591...65,116,061
Ensembl chr 6:65,042,583...65,116,061
JBrowse link
sebaceous gland neoplasm term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdkn1a cyclin-dependent kinase inhibitor 1A (P21) ISO RGD PMID:12354803 RGD:8662839 NCBI chr17:29,090,979...29,100,722
Ensembl chr17:29,090,976...29,100,727
JBrowse link
G Lef1 lymphoid enhancer binding factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16565724 NCBI chr 3:131,110,297...131,224,357
Ensembl chr 3:131,110,471...131,224,356
JBrowse link
seborrheic keratosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Anxa1 annexin A1 ISO RGD PMID:8919037 RGD:7421562 NCBI chr19:20,373,434...20,390,671
Ensembl chr19:20,373,428...20,390,944
JBrowse link
G Fgfr3 fibroblast growth factor receptor 3 ISO ClinVar Annotator: match by term: Keratosis Seborrheica ClinVar PMID:1908846, PMID:7773297, PMID:8589699, PMID:8858131, PMID:9677066, PMID:10073901, PMID:10471491, PMID:10696568, PMID:11038465, PMID:11241532, PMID:11529856, PMID:11879084, PMID:12833394, PMID:15772091, PMID:16841094, PMID:17384684, PMID:18642369, PMID:19381019, PMID:19749790, PMID:25157968, PMID:25606676, PMID:25741868, PMID:26619011, PMID:28492532, PMID:30311386 NCBI chr 5:33,721,724...33,737,068
Ensembl chr 5:33,721,674...33,737,068
JBrowse link
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha ISO ClinVar Annotator: match by term: Seborrheic keratosis
ClinVar Annotator: match by term: Keratosis, seborrheic
OMIM
ClinVar
PMID:15016963, PMID:15254419, PMID:15520168, PMID:15608678, PMID:15647370, PMID:15805248, PMID:16906227, PMID:16930767, PMID:17376864, PMID:17673550, PMID:18676830, PMID:18725974, PMID:19029981, PMID:19223544, PMID:19366826, PMID:19513541, PMID:19903786, PMID:20453058, PMID:20619739, PMID:21430269, PMID:21558396, PMID:21824802, PMID:22162582, PMID:22162589, PMID:22271473, PMID:22658544, PMID:22729222, PMID:22729223, PMID:22729224, PMID:23066039, PMID:23100325, PMID:23888070, PMID:24033266, PMID:24782230, PMID:25157968, PMID:25741868, PMID:26266975, PMID:26266985, PMID:26619011, PMID:26822237, PMID:27626068, PMID:27631024, PMID:28492532, PMID:31775759 NCBI chr 3:32,397,065...32,466,112
Ensembl chr 3:32,397,671...32,468,486
JBrowse link
skin benign neoplasm term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hras Harvey rat sarcoma virus oncogene ISO associated with Nevus, Sebaceous of Jadassohn;DNA:mutation:cds:c.37G>C(p.G13R)(human) RGD PMID:22683711 RGD:11098548 NCBI chr 7:141,189,934...141,194,019
Ensembl chr 7:141,189,105...141,194,005
JBrowse link
G Ptch1 patched 1 ISO ClinVar Annotator: match by term: Tumor of the skin ClinVar PMID:30311386 NCBI chr13:63,508,328...63,573,460
Ensembl chr13:63,508,328...63,573,598
JBrowse link
skin cancer term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Anxa7 annexin A7 ISO protein:decreased expression:skin RGD PMID:17708571 RGD:2292654 NCBI chr14:20,455,261...20,480,133
Ensembl chr14:20,455,260...20,480,133
JBrowse link
G Chuk conserved helix-loop-helix ubiquitous kinase IMP RGD PMID:21755017 RGD:13504775 NCBI chr19:44,073,334...44,107,505
Ensembl chr19:44,073,335...44,107,480
JBrowse link
G Crkl v-crk avian sarcoma virus CT10 oncogene homolog-like ISO RGD PMID:16391854 RGD:7488899 NCBI chr16:17,451,985...17,487,440
Ensembl chr16:17,451,987...17,487,434
JBrowse link
G Ptch1 patched 1 ISO ClinVar Annotator: match by term: Skin cancer ClinVar PMID:30311386 NCBI chr13:63,508,328...63,573,460
Ensembl chr13:63,508,328...63,573,598
JBrowse link
G Snai1 snail family zinc finger 1 IEA MouseDO NCBI chr 2:167,538,195...167,542,814
Ensembl chr 2:167,538,195...167,542,814
JBrowse link
G Srsf6 serine and arginine-rich splicing factor 6 ISO protein:increased expression:skin (human) RGD PMID:24440982 RGD:11039481 NCBI chr 2:162,931,508...162,937,121
Ensembl chr 2:162,931,528...162,937,121
JBrowse link
skin melanoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Agt angiotensinogen (serpin peptidase inhibitor, clade A, member 8) ISO protein:increased expression:serum RGD PMID:19394758 RGD:8548874 NCBI chr 8:124,556,587...124,569,706
Ensembl chr 8:124,556,534...124,569,706
JBrowse link
G Akt1 thymoma viral proto-oncogene 1 ISO ClinVar Annotator: match by term: Cutaneous melanoma
ClinVar Annotator: match by term: Malignant melanoma of skin
ClinVar PMID:17611497, PMID:18256540, PMID:18392055, PMID:18504432, PMID:18611285, PMID:19418217, PMID:19487299, PMID:19853286, PMID:20233444, PMID:20453058, PMID:21464312, PMID:21512767, PMID:21793738, PMID:22538770, PMID:22610119, PMID:22722201, PMID:22722839, PMID:22980975, PMID:23237847, PMID:23348505, PMID:23700467, PMID:23728071, PMID:23934607, PMID:24190505, PMID:24265152, PMID:24657128, PMID:25157968, PMID:26619011, PMID:28492532 NCBI chr12:112,653,821...112,674,884
Ensembl chr12:112,653,821...112,674,884
JBrowse link
G Araf Araf proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: Malignant melanoma of skin ClinVar PMID:24569458, PMID:26619011 NCBI chr  X:20,797,707...20,860,521
Ensembl chr  X:20,797,814...20,860,519
JBrowse link
G B2m beta-2 microglobulin ISO ClinVar Annotator: match by term: Malignant melanoma of skin ClinVar PMID:26619011 NCBI chr 2:122,147,687...122,153,082
Ensembl chr 2:122,147,686...122,153,083
JBrowse link
G Bap1 Brca1 associated protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25231345, PMID:26719535 NCBI chr14:31,251,352...31,259,930
Ensembl chr14:31,251,450...31,259,944
JBrowse link
G Bcl2l12 BCL2-like 12 (proline rich) ISO ClinVar Annotator: match by term: Malignant melanoma of skin ClinVar PMID:26619011 NCBI chr 7:44,991,222...44,997,638
Ensembl chr 7:44,991,222...44,998,712
JBrowse link
G Braf Braf transforming gene ISO ClinVar Annotator: match by term: Cutaneous melanoma
ClinVar Annotator: match by term: Malignant melanoma of skin
ClinVar PMID:2493360, PMID:2872605, PMID:8042262, PMID:12068308, PMID:12198537, PMID:12438234, PMID:12447372, PMID:12460918, PMID:12460919, PMID:12619120, PMID:12644542, PMID:12670889, PMID:12794760, PMID:12960123, PMID:14513361, PMID:14602780, PMID:14612909, PMID:14678966, PMID:14679157, PMID:14688025, PMID:15001635, PMID:15016963, PMID:15035987, PMID:15126572, PMID:15181070, PMID:15342696, PMID:15356022, PMID:15386408, PMID:15687339, PMID:15753399, PMID:15998781, PMID:16015629, PMID:16174717, PMID:16187918, PMID:16439621, PMID:16474404, PMID:16772349, PMID:17096326, PMID:17119447, PMID:17311103, PMID:17374713, PMID:17488796, PMID:17603483, PMID:17704260, PMID:17785355, PMID:18039235, PMID:18042262, PMID:18060073, PMID:18186519, PMID:18368129, PMID:18398503, PMID:18413255, PMID:18794803, PMID:19001320, PMID:19010912, PMID:19018267, PMID:19206169, PMID:19238210, PMID:19376813, PMID:19383316, PMID:19404918, PMID:19537845, PMID:19561230, PMID:19735675, PMID:19913317, PMID:20008640, PMID:20130576, PMID:20141835, PMID:20301365, PMID:20350999, PMID:20413299, PMID:20619739, PMID:20630094, PMID:20735442, PMID:20818844, PMID:20823850, PMID:20857202, PMID:21107320, PMID:21107323, PMID:21129611, PMID:21156289, PMID:21163703, PMID:21426297, PMID:21483012, PMID:21502544, PMID:21639808, PMID:21641636, PMID:21683865, PMID:21750866, PMID:21784453, PMID:21975775, PMID:22038996, PMID:22048237, PMID:22113612, PMID:22180495, PMID:22281684, PMID:22310681, PMID:22351686, PMID:22356324, PMID:22389471, PMID:22448344, PMID:22495831, PMID:22536370, PMID:22586120, PMID:22608338, PMID:22649091, PMID:22663011, PMID:22735384, PMID:22743296, PMID:22773810, PMID:22798288, PMID:22805292, PMID:22892241, PMID:22972589, PMID:22997239, PMID:23020132, PMID:23031422, PMID:23093928, PMID:23248257, PMID:23251002, PMID:23273605, PMID:23302800, PMID:23325582, PMID:23352452, PMID:23470635, PMID:23524406, PMID:23549875, PMID:23614898, PMID:23685455, PMID:23715574, PMID:23812671, PMID:23833300, PMID:23845441, PMID:23907581, PMID:23918947, PMID:24033266, PMID:24107445, PMID:24112392, PMID:24163374, PMID:24388723, PMID:24446311, PMID:24451042, PMID:24508103, PMID:24512911, PMID:24576830, PMID:24583796, PMID:24586605, PMID:24594804, PMID:24670642, PMID:24710085, PMID:24717435, PMID:24918823, PMID:24926260, PMID:25024077, PMID:25037139, PMID:25079330, PMID:25157968, PMID:25265492, PMID:25265494, PMID:25348715, PMID:25370471, PMID:25399551, PMID:25463315, PMID:25741868, PMID:25950823, PMID:25989278, PMID:26582644, PMID:26619011, PMID:26678033, PMID:27404270, PMID:27480103, PMID:28492532, PMID:28854169, PMID:28891408, PMID:29084544, PMID:29493581, PMID:29595366, PMID:29925953, PMID:30138938, PMID:30732632, PMID:31779674, PMID:31891627 NCBI chr 6:39,603,231...39,725,658
Ensembl chr 6:39,603,237...39,725,463
JBrowse link
G Brca2 breast cancer 2, early onset disease_progression ISO DNA:SNP: :rs206118, rs3752447, rs10492396 (human) RGD PMID:25243787 RGD:11344896 NCBI chr 5:150,522,297...150,570,147
Ensembl chr 5:150,522,630...150,570,329
JBrowse link
G Ccl2 chemokine (C-C motif) ligand 2 disease_progression ISO DNA:SNP: :2578A>G (human) RGD PMID:17169533 RGD:9491398 NCBI chr11:82,035,577...82,037,452
Ensembl chr11:82,035,571...82,037,453
JBrowse link
G Cd40 CD40 antigen disease_progression ISO RGD PMID:8952530 RGD:8547772 NCBI chr 2:165,055,614...165,071,654
Ensembl chr 2:165,055,627...165,072,948
JBrowse link
G Cdk4 cyclin-dependent kinase 4 ISO ClinVar Annotator: match by term: Malignant melanoma of skin ClinVar PMID:5377176, PMID:7652577, PMID:8528263, PMID:8968104, PMID:9228064, PMID:9425228, PMID:11756559, PMID:15880589, PMID:21801156, PMID:22804906, PMID:23384855, PMID:23546221, PMID:24256466, PMID:25157968, PMID:25741868, PMID:26619011, PMID:28492532, PMID:29774366 NCBI chr10:127,063,535...127,067,288
Ensembl chr10:127,063,534...127,067,920
JBrowse link
G Cdkn2a cyclin dependent kinase inhibitor 2A ISO DNA:frameshift mutations, deletions:cds:multiple (human)
ClinVar Annotator: match by term: Cutaneous melanoma
ClinVar Annotator: match by term: Malignant melanoma of skin
CTD Direct Evidence: marker/mechanism
DNA:missense mutation:exon:p.P48L (human)
ClinVar
CTD
PMID:7566978, PMID:7647780, PMID:7666917, PMID:7780957, PMID:7987387, PMID:8012957, PMID:8153634, PMID:8521414, PMID:8552158, PMID:8595405, PMID:8668202, PMID:8723678, PMID:8755727, PMID:9324288, PMID:9425228, PMID:9751050, PMID:9823374, PMID:9856841, PMID:10389768, PMID:10491434, PMID:10508477, PMID:10869234, PMID:10956390, PMID:11477665, PMID:11500805, PMID:11579459, PMID:11687599, PMID:11807902, PMID:12072543, PMID:14679123, PMID:15140233, PMID:15146471, PMID:15860862, PMID:15937071, PMID:16234564, PMID:16896043, PMID:16905682, PMID:17397031, PMID:17992122, PMID:18981015, PMID:19260062, PMID:19360740, PMID:20132244, PMID:20340136, PMID:21150883, PMID:21325014, PMID:21462282, PMID:21609436, PMID:21801156, PMID:22080950, PMID:22841127, PMID:24659262, PMID:25157968, PMID:25356972, PMID:25741868, PMID:25780468, PMID:26381259, PMID:26467025, PMID:26619011, PMID:26658419, PMID:26681309, PMID:26775776, PMID:27181379, PMID:28146043, PMID:28492532, PMID:28592523, PMID:28830827, PMID:29983899, PMID:30311386, PMID:31775759, PMID:20653773, PMID:10338331 RGD:8552276, RGD:8552302 NCBI chr 4:89,274,473...89,294,619
Ensembl chr 4:89,274,471...89,294,653
JBrowse link
G Chaf1b chromatin assembly factor 1, subunit B (p60) severity ISO protein:increased expression:skin: RGD PMID:20178651 RGD:9587476 NCBI chr16:93,883,900...93,906,115
Ensembl chr16:93,883,901...93,906,115
JBrowse link
G Cnot9 CCR4-NOT transcription complex, subunit 9 ISO ClinVar Annotator: match by term: Malignant melanoma of skin ClinVar PMID:26619011 NCBI chr 1:74,506,036...74,530,842
Ensembl chr 1:74,506,058...74,530,842
JBrowse link
G Cnr1 cannabinoid receptor 1 (brain) ISO CTD Direct Evidence: marker/mechanism CTD PMID:28131817 NCBI chr 4:33,923,171...33,948,831
Ensembl chr 4:33,924,593...33,948,831
JBrowse link
G Creb1 cAMP responsive element binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29179997 NCBI chr 1:64,532,794...64,604,548
Ensembl chr 1:64,532,645...64,604,548
JBrowse link
G Crebbp CREB binding protein ISO ClinVar Annotator: match by term: Malignant melanoma of skin ClinVar PMID:21390126, PMID:21680795, PMID:21796119, PMID:22832583, PMID:23334668, PMID:23685749, PMID:23778141, PMID:26087898, PMID:26619011, PMID:27257180, PMID:28492532, PMID:29551561 NCBI chr16:4,081,334...4,213,957
Ensembl chr16:4,081,328...4,213,997
JBrowse link
G Crnkl1 crooked neck pre-mRNA splicing factor 1 ISO ClinVar Annotator: match by term: Malignant melanoma of skin ClinVar PMID:26619011 NCBI chr 2:145,917,482...145,934,700
Ensembl chr 2:145,917,479...145,935,014
JBrowse link
G Ctnnb1 catenin (cadherin associated protein), beta 1 ISO ClinVar Annotator: match by term: Cutaneous melanoma
ClinVar Annotator: match by term: Malignant melanoma of skin
ClinVar PMID:9065402, PMID:9065403, PMID:9294210, PMID:9500465, PMID:9927029, PMID:10027390, PMID:10192393, PMID:10398436, PMID:10435629, PMID:10655994, PMID:10666372, PMID:11351304, PMID:11930117, PMID:11950921, PMID:12124804, PMID:15133491, PMID:19234609, PMID:23265383, PMID:24788118, PMID:25157968, PMID:26619011, PMID:26822237 NCBI chr 9:120,933,400...120,960,507
Ensembl chr 9:120,929,216...120,960,507
JBrowse link
G Dnmt3b DNA methyltransferase 3B disease_progression ISO RGD PMID:21081840 RGD:9589074 NCBI chr 2:153,649,411...153,687,730
Ensembl chr 2:153,649,450...153,687,730
JBrowse link
G Erbb2 erb-b2 receptor tyrosine kinase 2 ISO ClinVar Annotator: match by term: Malignant melanoma of skin ClinVar PMID:18413839, PMID:22046346, PMID:23220880, PMID:25157968, PMID:26619011 NCBI chr11:98,412,484...98,437,716
Ensembl chr11:98,412,470...98,437,716
JBrowse link
G Erbb4 erb-b2 receptor tyrosine kinase 4 ISO ClinVar Annotator: match by term: Cutaneous melanoma ClinVar PMID:19718025 NCBI chr 1:68,031,884...69,108,576
Ensembl chr 1:68,032,186...69,108,059
JBrowse link
G Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit ISO ClinVar Annotator: match by term: Malignant melanoma of skin ClinVar PMID:23023262, PMID:24563539, PMID:26619011 NCBI chr 6:47,530,274...47,595,270
Ensembl chr 6:47,530,139...47,595,341
JBrowse link
G Fanca Fanconi anemia, complementation group A disease_progression ISO DNA:SNP: :rs62068372 (human) RGD PMID:25243787 RGD:11344896 NCBI chr 8:123,266,294...123,318,651
Ensembl chr 8:123,268,300...123,318,576
JBrowse link
G Fancd2 Fanconi anemia, complementation group D2 ISO mRNA,protein:increased expression:skin,nucleus: RGD PMID:21697891 RGD:11046262 NCBI chr 6:113,531,640...113,597,020
Ensembl chr 6:113,531,682...113,597,017
JBrowse link
G Fbxw7 F-box and WD-40 domain protein 7 ISO ClinVar Annotator: match by term: Malignant melanoma of skin ClinVar PMID:25741868, PMID:26619011 NCBI chr 3:84,814,990...84,979,198
Ensembl chr 3:84,815,268...84,979,198
JBrowse link
G Gna11 guanine nucleotide binding protein, alpha 11 ISO ClinVar Annotator: match by term: Cutaneous melanoma ClinVar PMID:1328859, PMID:2549426, PMID:21083380, PMID:21444680, PMID:22733540, PMID:22808163, PMID:24141786, PMID:25157968, PMID:26619011 NCBI chr10:81,528,724...81,545,162
Ensembl chr10:81,528,724...81,545,190
JBrowse link
G Gnaq guanine nucleotide binding protein, alpha q polypeptide ISO ClinVar Annotator: match by term: Cutaneous melanoma ClinVar PMID:1328859, PMID:2549426, PMID:18719078, PMID:19078957, PMID:21083380, PMID:22253748, PMID:22653968, PMID:22733540, PMID:22808163, PMID:25157968 NCBI chr19:16,132,684...16,388,520
Ensembl chr19:16,132,831...16,387,463
JBrowse link
G Gnas GNAS (guanine nucleotide binding protein, alpha stimulating) complex locus ISO ClinVar Annotator: match by term: Malignant melanoma of skin ClinVar PMID:1594625, PMID:1944469, PMID:2549426, PMID:3720010, PMID:7739708, PMID:8766942, PMID:9626141, PMID:12727968, PMID:12970318, PMID:15126527, PMID:16507630, PMID:21835143, PMID:23536913, PMID:24855271, PMID:25157968, PMID:26619011 NCBI chr 2:174,284,320...174,346,744
Ensembl chr 2:174,284,320...174,346,744
JBrowse link
G Grm1 glutamate receptor, metabotropic 1 IEA OMIM:155601 | OMIM:608035 | OMIM:609048 | OMIM:612263 | OMIM:613099 | OMIM:613972 | OMIM:614456 | OMIM:615134 | OMIM:615848 MouseDO NCBI chr10:10,686,059...11,082,382
Ensembl chr10:10,686,059...11,082,356
JBrowse link
G Gstm1 glutathione S-transferase, mu 1 susceptibility ISO DNA:deletion:: (human) RGD PMID:11352862 RGD:12792221 NCBI chr 3:108,012,250...108,017,973
Ensembl chr 3:108,012,255...108,017,973
JBrowse link
G Gstt1 glutathione S-transferase, theta 1 susceptibility ISO DNA:deletion:: (human) RGD PMID:11352862 RGD:12792221 NCBI chr10:75,783,813...75,798,584
Ensembl chr10:75,783,813...75,798,584
JBrowse link
G Hif1a hypoxia inducible factor 1, alpha subunit ISO protein:increased expression:epidermis (human) RGD PMID:19558170 RGD:8695922 NCBI chr12:73,901,324...73,947,554
Ensembl chr12:73,901,375...73,947,530
JBrowse link
G Hras Harvey rat sarcoma virus oncogene ISO ClinVar Annotator: match by term: Cutaneous melanoma
ClinVar Annotator: match by term: Malignant melanoma of skin
ClinVar PMID:1904555, PMID:2999610, PMID:3510078, PMID:3537694, PMID:6092966, PMID:6330729, PMID:7177195, PMID:8960317, PMID:11150980, PMID:12210337, PMID:12835555, PMID:14608654, PMID:16155195, PMID:16170316, PMID:16329078, PMID:16372351, PMID:16443854, PMID:16835863, PMID:16881968, PMID:16969868, PMID:17054105, PMID:17211612, PMID:17250658, PMID:17384584, PMID:17412879, PMID:17979197, PMID:18039947, PMID:18042262, PMID:18247425, PMID:18470943, PMID:18978862, PMID:19206176, PMID:19213030, PMID:19255327, PMID:19371735, PMID:19382114, PMID:19669404, PMID:19773371, PMID:20660566, PMID:20859122, PMID:20979192, PMID:21438134, PMID:21495179, PMID:21834037, PMID:21850009, PMID:22087699, PMID:22256804, PMID:22317973, PMID:22499344, PMID:22683711, PMID:22726224, PMID:22926243, PMID:23093928, PMID:23096712, PMID:23406027, PMID:23429430, PMID:23751039, PMID:23884457, PMID:24006476, PMID:24033266, PMID:24129065, PMID:24169525, PMID:24224811, PMID:24390138, PMID:25157968, PMID:25326635, PMID:25695684, PMID:25741868, PMID:25914166, PMID:26619011, PMID:27195699, PMID:27589201, PMID:28027064, PMID:28139825, PMID:28390077, PMID:28492532, PMID:29073591, PMID:29493581, PMID:31775759, PMID:168335863 NCBI chr 7:141,189,934...141,194,019
Ensembl chr 7:141,189,105...141,194,005
JBrowse link
G Icam1 intercellular adhesion molecule 1 disease_progression ISO DNA:missense mutation:exon:p.R241G (human) RGD PMID:16313300 RGD:8547698 NCBI chr 9:21,015,940...21,028,814
Ensembl chr 9:21,015,985...21,028,817
JBrowse link
G Idh1 isocitrate dehydrogenase 1 (NADP+), soluble ISO ClinVar Annotator: match by term: Malignant melanoma of skin ClinVar PMID:18772396, PMID:19657110, PMID:19798509, PMID:19818334, PMID:20946881, PMID:21352804, PMID:21446021, PMID:22160010, PMID:22397365, PMID:22417203, PMID:22898539, PMID:23558169, PMID:24606448, PMID:25043048, PMID:25157968, PMID:25741868, PMID:26619011 NCBI chr 1:65,158,616...65,186,479
Ensembl chr 1:65,158,616...65,186,500
JBrowse link
G Jmjd6 jumonji domain containing 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30619488 NCBI chr11:116,837,432...116,843,767
Ensembl chr11:116,837,432...116,843,449
JBrowse link
G Kit KIT proto-oncogene receptor tyrosine kinase ISO ClinVar Annotator: match by term: Cutaneous melanoma
ClinVar Annotator: match by term: Malignant melanoma of skin
ClinVar PMID:7513208, PMID:7530509, PMID:8589724, PMID:9438854, PMID:9657776, PMID:10224103, PMID:10362788, PMID:10680913, PMID:11073817, PMID:11276010, PMID:11505412, PMID:11526490, PMID:12697809, PMID:12960119, PMID:14977822, PMID:15685537, PMID:15790786, PMID:16046538, PMID:16226710, PMID:16638875, PMID:16731599, PMID:16741525, PMID:16751810, PMID:16908931, PMID:16954519, PMID:17259998, PMID:17363509, PMID:17372901, PMID:17489795, PMID:17699867, PMID:17824795, PMID:18421059, PMID:18448188, PMID:18510589, PMID:18936790, PMID:18955458, PMID:18980976, PMID:19164557, PMID:19671763, PMID:19737976, PMID:19812602, PMID:19865100, PMID:19996579, PMID:20088873, PMID:20147452, PMID:20545949, PMID:20736294, PMID:21131919, PMID:21159146, PMID:21569090, PMID:21642685, PMID:21689725, PMID:21690468, PMID:21969494, PMID:22160160, PMID:22261812, PMID:22355224, PMID:22357254, PMID:22932406, PMID:23106360, PMID:23149070, PMID:23375402, PMID:23582185, PMID:23598963, PMID:23714533, PMID:23775962, PMID:24531699, PMID:24661573, PMID:24755198, PMID:25157968, PMID:26619011, PMID:26822237, PMID:27771813, PMID:28492532 NCBI chr 5:75,574,987...75,656,722
Ensembl chr 5:75,574,916...75,656,722
JBrowse link
G Knstrn kinetochore-localized astrin/SPAG5 binding ISO ClinVar Annotator: match by term: Malignant melanoma of skin ClinVar PMID:26619011 NCBI chr 2:118,813,988...118,837,210
Ensembl chr 2:118,814,003...118,853,957
JBrowse link
G Kras Kirsten rat sarcoma viral oncogene homolog ISO ClinVar Annotator: match by term: Malignant melanoma of skin ClinVar PMID:2278970, PMID:3122217, PMID:12460918, PMID:15696205, PMID:16361624, PMID:16434492, PMID:16618717, PMID:18316791, PMID:18794081, PMID:19075190, PMID:19114683, PMID:19679400, PMID:20921462, PMID:20921465, PMID:21228335, PMID:22407852, PMID:22722830, PMID:23325582, PMID:25157968, PMID:26619011 NCBI chr 6:145,216,699...145,250,420
Ensembl chr 6:145,216,699...145,250,239
JBrowse link
G Lrrc56 leucine rich repeat containing 56 ISO ClinVar Annotator: match by term: Cutaneous melanoma
ClinVar Annotator: match by term: Malignant melanoma of skin
ClinVar PMID:1904555, PMID:2999610, PMID:3510078, PMID:3537694, PMID:6092966, PMID:6330729, PMID:7177195, PMID:8960317, PMID:11150980, PMID:12210337, PMID:12835555, PMID:14608654, PMID:16155195, PMID:16170316, PMID:16329078, PMID:16372351, PMID:16443854, PMID:16835863, PMID:16881968, PMID:16969868, PMID:17054105, PMID:17211612, PMID:17250658, PMID:17384584, PMID:17412879, PMID:17979197, PMID:18039947, PMID:18042262, PMID:18247425, PMID:18470943, PMID:18978862, PMID:19206176, PMID:19213030, PMID:19255327, PMID:19371735, PMID:19382114, PMID:19669404, PMID:19773371, PMID:20660566, PMID:20859122, PMID:20979192, PMID:21438134, PMID:21495179, PMID:21834037, PMID:21850009, PMID:22087699, PMID:22256804, PMID:22317973, PMID:22499344, PMID:22683711, PMID:22726224, PMID:22926243, PMID:23093928, PMID:23096712, PMID:23406027, PMID:23429430, PMID:23751039, PMID:23884457, PMID:24006476, PMID:24033266, PMID:24129065, PMID:24169525, PMID:24224811, PMID:24390138, PMID:25157968, PMID:25326635, PMID:25695684, PMID:25741868, PMID:25914166, PMID:26619011, PMID:27195699, PMID:27589201, PMID:28027064, PMID:28139825, PMID:28390077, PMID:28492532, PMID:29073591, PMID:29493581, PMID:31775759, PMID:168335863 NCBI chr 7:141,194,111...141,210,055
Ensembl chr 7:141,194,157...141,210,055
JBrowse link
G Map2k1 mitogen-activated protein kinase kinase 1 ISO ClinVar Annotator: match by term: Cutaneous melanoma
ClinVar Annotator: match by term: Malignant melanoma of skin
ClinVar PMID:7651428, PMID:17366577, PMID:17551924, PMID:17704260, PMID:18060073, PMID:18632602, PMID:19411838, PMID:19915144, PMID:21107320, PMID:21383288, PMID:22197931, PMID:22327936, PMID:22588879, PMID:22622578, PMID:23444215, PMID:23569304, PMID:23614898, PMID:24033266, PMID:24448821, PMID:24803665, PMID:25049390, PMID:25157968, PMID:25741868, PMID:26619011, PMID:28049852, PMID:28492532, PMID:29643386, PMID:30763456 NCBI chr 9:64,185,769...64,253,605
Ensembl chr 9:64,185,770...64,253,631
JBrowse link
G Map2k2 mitogen-activated protein kinase kinase 2 ISO ClinVar Annotator: match by term: Cutaneous melanoma
ClinVar Annotator: match by term: Malignant melanoma of skin
ClinVar PMID:18042262, PMID:24265153, PMID:24265154, PMID:26619011 NCBI chr10:81,105,913...81,124,697
Ensembl chr10:81,105,915...81,133,975
JBrowse link
G Mitf melanogenesis associated transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:22080950 NCBI chr 6:97,807,002...98,021,360
Ensembl chr 6:97,807,052...98,021,349
JBrowse link
G Mmp1a matrix metallopeptidase 1a (interstitial collagenase) disease_progression ISO DNA:polymorphisms, haplotypes:promoter:multiple
DNA:SNPs, haplotype:promoter:multiple
RGD PMID:20655738, PMID:22198560 RGD:8549726, RGD:8549727 NCBI chr 9:7,464,141...7,476,869
Ensembl chr 9:7,464,141...7,476,869
JBrowse link
G Mmp2 matrix metallopeptidase 2 severity ISO mRNA:increased expression:skin RGD PMID:20966734, PMID:12404291, PMID:18251742 RGD:8657055, RGD:13204786, RGD:8657075 NCBI chr 8:92,827,290...92,853,421
Ensembl chr 8:92,827,291...92,853,420
JBrowse link
G Mmp9 matrix metallopeptidase 9 disease progression ISO DNA:SNP, missense mutations:promoter, cds:-1562C>T,p.R279Q, p.P574R (human) RGD PMID:17346338, PMID:12404291 RGD:8547886, RGD:13204786 NCBI chr 2:164,940,326...164,955,850
Ensembl chr 2:164,940,780...164,955,850
JBrowse link
G Mtor mechanistic target of rapamycin kinase ISO ClinVar Annotator: match by term: Malignant melanoma of skin ClinVar PMID:24631838, PMID:26018084, PMID:26619011, PMID:27159400, PMID:27830187 NCBI chr 4:148,448,582...148,557,685
Ensembl chr 4:148,448,611...148,557,683
JBrowse link
G Myc myelocytomatosis oncogene ISO ClinVar Annotator: match by term: Malignant melanoma of skin ClinVar PMID:25157968, PMID:26619011 NCBI chr15:61,985,341...61,990,361
Ensembl chr15:61,985,391...61,990,374
JBrowse link
G Nras neuroblastoma ras oncogene ISO ClinVar Annotator: match by term: Cutaneous melanoma
ClinVar Annotator: match by term: Malignant melanoma of skin
ClinVar PMID:1654209, PMID:2278970, PMID:2407301, PMID:2674680, PMID:2989702, PMID:3102434, PMID:3122217, PMID:6587382, PMID:8120410, PMID:10598665, PMID:10821536, PMID:12460918, PMID:12727991, PMID:14508525, PMID:14982869, PMID:15046639, PMID:15831708, PMID:15899789, PMID:15951308, PMID:16273091, PMID:16291983, PMID:16434492, PMID:16518851, PMID:17332249, PMID:17384584, PMID:17517660, PMID:17699718, PMID:18375819, PMID:18390968, PMID:18633438, PMID:18668139, PMID:18794081, PMID:18948947, PMID:18952898, PMID:19047918, PMID:19075190, PMID:19657110, PMID:19775298, PMID:19880792, PMID:19966803, PMID:20130576, PMID:20149136, PMID:20179705, PMID:20406486, PMID:20619739, PMID:20736745, PMID:21079152, PMID:21107323, PMID:21263000, PMID:21305640, PMID:21576590, PMID:21729679, PMID:21829508, PMID:22144181, PMID:22407852, PMID:22499344, PMID:22718121, PMID:22761467, PMID:22773810, PMID:22962325, PMID:23076151, PMID:23134356, PMID:23392294, PMID:23400451, PMID:23414587, PMID:23431193, PMID:23515407, PMID:23538902, PMID:23569304, PMID:23614898, PMID:24006476, PMID:24033266, PMID:24148783, PMID:24284627, PMID:24370118, PMID:24671188, PMID:24918823, PMID:25157968, PMID:25348872, PMID:25695684, PMID:26619011, PMID:26821351, PMID:27050078, PMID:28098151, PMID:28492532, PMID:28594414, PMID:28780248 NCBI chr 3:103,058,285...103,067,914
Ensembl chr 3:103,058,285...103,067,914
JBrowse link
G Oca2 oculocutaneous albinism II susceptibility ISO DNA:snp:cds:p.R419Q (rs1800407) (human)
DNA:missense mutation:cds:p.H615R (rs1800414) (human)
DNA:snps:exon, intron:multiple (human)
RGD PMID:19710684, PMID:24617981, PMID:15889046 RGD:9491818, RGD:9491831, RGD:9491829 NCBI chr 7:56,239,593...56,536,518
Ensembl chr 7:56,239,760...56,536,518
JBrowse link
G Pdgfra platelet derived growth factor receptor, alpha polypeptide ISO ClinVar Annotator: match by term: Cutaneous melanoma ClinVar PMID:24132921 NCBI chr 5:75,151,322...75,198,206
Ensembl chr 5:75,152,292...75,198,215
JBrowse link
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha ISO ClinVar Annotator: match by term: Cutaneous melanoma
ClinVar Annotator: match by term: Malignant melanoma of skin
ClinVar PMID:15016963, PMID:15254419, PMID:15520168, PMID:15608678, PMID:15647370, PMID:15805248, PMID:16353168, PMID:16906227, PMID:16930767, PMID:17376864, PMID:17673550, PMID:18371219, PMID:18676830, PMID:18725974, PMID:19029981, PMID:19223544, PMID:19366826, PMID:19513541, PMID:19671852, PMID:19903786, PMID:20177704, PMID:20453058, PMID:20619739, PMID:21430269, PMID:21558396, PMID:21824802, PMID:22162582, PMID:22162589, PMID:22271473, PMID:22658544, PMID:22729222, PMID:22729223, PMID:22729224, PMID:23066039, PMID:23100325, PMID:23408298, PMID:23888070, PMID:24033266, PMID:24265155, PMID:24782230, PMID:25157968, PMID:25741868, PMID:26266975, PMID:26266985, PMID:26619011, PMID:26822237, PMID:27626068, PMID:27631024, PMID:28492532, PMID:29446767, PMID:31568861, PMID:31775759 NCBI chr 3:32,397,065...32,466,112
Ensembl chr 3:32,397,671...32,468,486
JBrowse link
G Pik3r1 phosphoinositide-3-kinase regulatory subunit 1 ISO ClinVar Annotator: match by term: Malignant melanoma of skin ClinVar PMID:19962457, PMID:25157968, PMID:26619011 NCBI chr13:101,680,761...101,768,217
Ensembl chr13:101,680,563...101,768,217
JBrowse link
G Ppp6c protein phosphatase 6, catalytic subunit ISO ClinVar Annotator: match by term: Malignant melanoma of skin ClinVar PMID:26619011 NCBI chr 2:39,194,369...39,226,349
Ensembl chr 2:39,194,354...39,226,451
JBrowse link
G Pten phosphatase and tensin homolog ISO ClinVar Annotator: match by term: Cutaneous melanoma
ClinVar Annotator: match by term: Malignant melanoma of skin
ClinVar PMID:1097835, PMID:9467011, PMID:9915974, PMID:10866302, PMID:10978354, PMID:11476841, PMID:11504908, PMID:11875759, PMID:16007494, PMID:16773562, PMID:17526801, PMID:17942903, PMID:18767981, PMID:19457929, PMID:20085938, PMID:20300775, PMID:21659347, PMID:21822720, PMID:21824802, PMID:21828076, PMID:22266152, PMID:22320991, PMID:22327138, PMID:22595938, PMID:23335809, PMID:23399955, PMID:23470840, PMID:24778394, PMID:25157968, PMID:25527629, PMID:25741868, PMID:26619011, PMID:26798346, PMID:27477328, PMID:27535533, PMID:28475857, PMID:28492532, PMID:29359449, PMID:29706350 NCBI chr19:32,757,577...32,826,160
Ensembl chr19:32,757,497...32,826,160
JBrowse link
G Rac1 Rac family small GTPase 1 ISO ClinVar Annotator: match by term: Cutaneous melanoma
ClinVar Annotator: match by term: Malignant melanoma of skin
ClinVar PMID:25056119, PMID:26619011 NCBI chr 5:143,505,481...143,528,031
Ensembl chr 5:143,503,634...143,528,036
JBrowse link
G Raf1 v-raf-leukemia viral oncogene 1 ISO ClinVar Annotator: match by term: Cutaneous melanoma
ClinVar Annotator: match by term: Malignant melanoma of skin
ClinVar PMID:1760348, PMID:10064593, PMID:12077328, PMID:16523510, PMID:17603482, PMID:17603483, PMID:19437094, PMID:19568997, PMID:19953625, PMID:20052757, PMID:20876176, PMID:21396583, PMID:21440552, PMID:21784453, PMID:22389993, PMID:22826437, PMID:23312806, PMID:23321623, PMID:23613113, PMID:23737487, PMID:23877478, PMID:24033266, PMID:24775816, PMID:24777450, PMID:25706034, PMID:25741868, PMID:26446362, PMID:26619011, PMID:26903553, PMID:28492532, PMID:29084544, PMID:29493581, PMID:30311386 NCBI chr 6:115,618,569...115,676,635
Ensembl chr 6:115,618,067...115,676,635
JBrowse link
G Sf3b1 splicing factor 3b, subunit 1 ISO ClinVar Annotator: match by term: Malignant melanoma of skin ClinVar PMID:23634996, PMID:26619011 NCBI chr 1:54,985,169...55,027,501
Ensembl chr 1:54,985,169...55,027,481
JBrowse link
G Sf3b2 splicing factor 3b, subunit 2 ISO ClinVar Annotator: match by term: Malignant melanoma of skin ClinVar PMID:26619011 NCBI chr19:5,273,921...5,295,457
Ensembl chr19:5,273,932...5,295,455
JBrowse link
G Slc45a2 solute carrier family 45, member 2 ISO ClinVar Annotator: match by term: Malignant melanoma of skin ClinVar PMID:15714523, PMID:17044855, PMID:17999355, PMID:18563784, PMID:18683857, PMID:19578363, PMID:28492532 NCBI chr15:11,000,721...11,029,233
Ensembl chr15:11,000,721...11,029,233
JBrowse link
G Snapc5 small nuclear RNA activating complex, polypeptide 5 ISO ClinVar Annotator: match by term: Cutaneous melanoma ClinVar PMID:22197931 NCBI chr 9:64,179,297...64,182,688
Ensembl chr 9:64,179,274...64,183,132
JBrowse link
G Stat3 signal transducer and activator of transcription 3 disease_progression ISO RGD PMID:21876460 RGD:8694297 NCBI chr11:100,886,806...100,939,594
Ensembl chr11:100,885,098...100,939,540
JBrowse link
G Stk11 serine/threonine kinase 11 ISO ClinVar Annotator: match by term: FAMILIAL ATYPICAL MOLE-MALIGNANT MELANOMA SYNDROME ClinVar PMID:10201537, PMID:10208439, PMID:25157968 NCBI chr10:80,115,767...80,130,679
Ensembl chr10:80,115,803...80,130,682
JBrowse link
G Stk19 serine/threonine kinase 19 ISO ClinVar Annotator: match by term: Malignant melanoma of skin ClinVar PMID:26619011 NCBI chr17:34,823,993...34,836,903
Ensembl chr17:34,823,993...34,836,945
JBrowse link
G Trp53 transformation related protein 53 ISO ClinVar Annotator: match by term: Malignant melanoma of skin
ClinVar Annotator: match by term: Cutaneous melanoma
ClinVar PMID:1349175, PMID:1359493, PMID:1565143, PMID:1565144, PMID:1569604, PMID:1631137, PMID:1631151, PMID:1673792, PMID:1683921, PMID:1686725, PMID:1915267, PMID:1978757, PMID:2046748, PMID:2113594, PMID:2826609, PMID:7651740, PMID:7707106, PMID:7732013, PMID:7881428, PMID:7887414, PMID:8023157, PMID:8062826, PMID:8080050, PMID:8099841, PMID:8118819, PMID:8164043, PMID:8364550, PMID:8401536, PMID:8423216, PMID:8425176, PMID:8479749, PMID:8527048, PMID:8633021, PMID:8688334, PMID:8718514, PMID:8825920, PMID:8829627, PMID:8869100, PMID:9049183, PMID:9242456, PMID:9290701, PMID:9364015, PMID:9407971, PMID:9472631, PMID:9546439, PMID:9569050, PMID:9572492, PMID:9598730, PMID:9632751, PMID:9662334, PMID:9667734, PMID:9825943, PMID:10064694, PMID:10411893, PMID:10432928, PMID:10519380, PMID:10567903, PMID:10589545, PMID:10616528, PMID:10713666, PMID:10797439, PMID:10864200, PMID:10914716, PMID:10922393, PMID:11051239, PMID:11139324, PMID:11180592, PMID:11313981, PMID:11370630, PMID:11429705, PMID:11479205, PMID:11593407, PMID:11782540, PMID:11793474, PMID:11896595, PMID:11920788, PMID:11920959, PMID:12007217, PMID:12124823, PMID:12509279, PMID:12672316, PMID:12702523, PMID:12726864, PMID:12826609, PMID:12909720, PMID:12917626, PMID:14559903, PMID:14584079, PMID:15004724, PMID:15017592, PMID:15037740, PMID:15077194, PMID:15138567, PMID:15161705, PMID:15381368, PMID:15390294, PMID:15541116, PMID:15580553, PMID:15607980, PMID:15607981, PMID:15722483, PMID:15825182, PMID:15850016, PMID:15925506, PMID:15951970, PMID:15977174, PMID:15982667, PMID:15993273, PMID:16209708, PMID:16258005, PMID:16288208, PMID:16312222, PMID:16401470, PMID:16474844, PMID:16489069, PMID:16494995, PMID:16508005, PMID:16633321, PMID:16682957, PMID:16736287, PMID:16778209, PMID:16793544, PMID:16818505, PMID:16827139, PMID:16861262, PMID:17015838, PMID:17311302, PMID:17390010, PMID:17401428, PMID:17417627, PMID:17427234, PMID:17530187, PMID:17540308, PMID:17541742, PMID:17567834, PMID:17572079, PMID:17606709, PMID:17636407, PMID:17724467, PMID:17875924, PMID:18208484, PMID:18307025, PMID:18453682, PMID:18511570, PMID:18555592, PMID:18685109, PMID:18978813, PMID:19012332, PMID:19101993, PMID:19147582, PMID:19171880, PMID:19336573, PMID:19378321, PMID:19462533, PMID:19468865, PMID:19556618, PMID:19834951, PMID:19850740, PMID:19913028, PMID:20013323, PMID:20028212, PMID:20113312, PMID:20127978, PMID:20128691, PMID:20195489, PMID:20234365, PMID:20407015, PMID:20505364, PMID:20506564, PMID:20516128, PMID:20522432, PMID:20593220, PMID:20693561, PMID:20805372, PMID:20972454, PMID:21059199, PMID:21159183, PMID:21187651, PMID:21232794, PMID:21305319, PMID:21343334, PMID:21356188, PMID:21484931, PMID:21519010, PMID:21522129, PMID:21535297, PMID:21552135, PMID:21601526, PMID:21626334, PMID:21674059, PMID:21760960, PMID:21760996, PMID:21761402, PMID:22006311, PMID:22109999, PMID:22110706, PMID:22114072, PMID:22186996, PMID:22198284, PMID:22233476, PMID:22265402, PMID:22427690, PMID:22540896, PMID:22672556, PMID:22713868, PMID:22811390, PMID:22844452, PMID:22887876, PMID:22899716, PMID:22915647, PMID:22919068, PMID:22923379, PMID:22999923, PMID:23031740, PMID:23124483, PMID:23161690, PMID:23172776, PMID:23246812, PMID:23259501, PMID:23263379, PMID:23264849, PMID:23265383, PMID:23315175, PMID:23334668, PMID:23340422, PMID:23355100, PMID:23538418, PMID:23625637, PMID:23630318, PMID:23667202, PMID:23713777, PMID:23792586, PMID:23894400, PMID:23950206, PMID:23967324, PMID:24033266, PMID:24038938, PMID:24076587, PMID:24381225, PMID:24384472, PMID:24395441, PMID:24487413, PMID:24501221, PMID:24573247, PMID:24603336, PMID:24641375, PMID:24651012, PMID:24651015, PMID:24677579, PMID:24702488, PMID:24728327, PMID:24744791, PMID:24766216, PMID:24810334, PMID:25123297, PMID:25157968, PMID:25293557, PMID:25339994, PMID:25428789, PMID:25433984, PMID:25503501, PMID:25525159, PMID:25584008, PMID:25584637, PMID:25587027, PMID:25619955, PMID:25741868, PMID:25757876, PMID:25787918, PMID:25896519, PMID:25925845, PMID:25927356, PMID:25952993, PMID:25980754, PMID:26014290, PMID:26022348, PMID:26024390, PMID:26205489, PMID:26230955, PMID:26270727, PMID:26467025, PMID:26497680, PMID:26556299, PMID:26585234, PMID:26619011, PMID:26681312, PMID:26787237, PMID:26822237, PMID:26845104, PMID:26878390, PMID:26911350, PMID:26976419, PMID:27022024, PMID:27077130, PMID:27149858, PMID:27179933, PMID:27189670, PMID:27276561, PMID:27328919, PMID:27374712, PMID:27458004, PMID:27463065, PMID:27489289, PMID:27493922, PMID:27523101, PMID:27533082, PMID:27616075, PMID:27680515, PMID:27683180, PMID:27724982, PMID:27730344, PMID:27895058, PMID:27959731, PMID:28135145, PMID:28152038, PMID:28279309, PMID:28369373, PMID:28453743, PMID:28472496, PMID:28477316, PMID:28492532, PMID:28724667, PMID:28802053, PMID:28861920, PMID:28975465, PMID:29025599, PMID:29070607, PMID:29126202, PMID:29324801, PMID:29416011, PMID:29478780, PMID:29489754, PMID:29752822, PMID:29753700, PMID:29979965, PMID:30076369, PMID:30087429, PMID:30128536, PMID:30216591, PMID:30224644, PMID:30297838, PMID:30306255, PMID:30311369, PMID:30327374, PMID:30352134, PMID:30450585, PMID:30709381, PMID:30720243, PMID:30840781, PMID:31775759 NCBI chr11:69,580,348...69,591,873
Ensembl chr11:69,580,359...69,591,873
JBrowse link
G Tyr tyrosinase susceptibility ISO DNA:missense mutation:cds:p.R402Q(human) RGD PMID:21906913 RGD:8694390 NCBI chr 7:87,424,771...87,493,512
Ensembl chr 7:87,424,771...87,493,512
JBrowse link
G Vdr vitamin D (1,25-dihydroxyvitamin D3) receptor susceptibility
no_association
ISO DNA:missense mutation, silent mutation: :p,M1T, p.I352 (c.1056T>C) (rs2228570, rs731236) (human)
DNA:SNPs: :multiple
RGD PMID:16990805, PMID:22576141, PMID:19615888 RGD:8157629, RGD:8158075, RGD:8158071 NCBI chr15:97,854,427...97,908,296
Ensembl chr15:97,854,425...97,910,630
JBrowse link
skin papilloma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccl20 chemokine (C-C motif) ligand 20 ISO protein:decreased expression:skin RGD PMID:21715145 RGD:7483622 NCBI chr 1:83,116,766...83,119,167
Ensembl chr 1:83,116,766...83,119,167
JBrowse link
G Clu clusterin IEP RGD PMID:11085517 RGD:8746700 NCBI chr14:65,968,483...65,981,548
Ensembl chr14:65,968,483...65,981,547
JBrowse link
G Nrg1 neuregulin 1 ISO DNA:hypermethylation: RGD PMID:31892232 RGD:39456089 NCBI chr 8:31,807,452...32,891,609
Ensembl chr 8:31,814,551...32,884,797
JBrowse link
G Tlr2 toll-like receptor 2 ISO protein:increased expression,altered expression:cytoplasm,membrane, nucleus: RGD PMID:24617037 RGD:8553046 NCBI chr 3:83,836,272...83,841,824
Ensembl chr 3:83,836,272...83,841,767
JBrowse link
skin squamous cell carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ddx5 DEAD box helicase 5 ISO protein:increased expression:foreskin (human) RGD PMID:22548649 RGD:9850272 NCBI chr11:106,780,355...106,789,185
Ensembl chr11:106,780,355...106,789,185
JBrowse link
G Fyn Fyn proto-oncogene IEA MouseDO NCBI chr10:39,369,743...39,565,381
Ensembl chr10:39,368,855...39,565,381
JBrowse link
G Knstrn kinetochore-localized astrin/SPAG5 binding ISO DNA:mutation:cds: p.Ala40Glu (human)
DNA:mutation:cds: p.Ser24Phe(human)
RGD PMID:30972880, PMID:25194279 RGD:28867225, RGD:28867226 NCBI chr 2:118,813,988...118,837,210
Ensembl chr 2:118,814,003...118,853,957
JBrowse link
Sweat Gland Neoplasms term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Trp63 transformation related protein 63 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20740144 NCBI chr16:25,683,763...25,892,088
Ensembl chr16:25,683,763...25,892,102
JBrowse link
Trichilemmoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hras Harvey rat sarcoma virus oncogene ISO associated with Nevus sebaceous; DNA:mutation:exon:c.37G>C (p.G13R)(human) RGD PMID:24890286 RGD:12738400 NCBI chr 7:141,189,934...141,194,019
Ensembl chr 7:141,189,105...141,194,005
JBrowse link
Trichoepithelioma, Multiple Familial, 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cyld CYLD lysine 63 deubiquitinase ISO ClinVar Annotator: match by term: Trichoepithelioma multiple familial 2 ClinVar NCBI chr 8:88,696,878...88,751,946
Ensembl chr 8:88,697,028...88,751,945
JBrowse link
von Hippel-Lindau disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccnd1 cyclin D1 ISO ClinVar Annotator: match by term: VON HIPPEL-LINDAU SYNDROME, MODIFIER OF OMIM
ClinVar
PMID:10667569, PMID:11459873, PMID:12097293, PMID:23502783, PMID:24870244 NCBI chr 7:144,929,931...144,939,831
Ensembl chr 7:144,929,931...144,939,925
JBrowse link
G Epas1 endothelial PAS domain protein 1 ISO protein:increased expression:kidney: RGD PMID:22299048 RGD:11041600 NCBI chr17:86,753,864...86,833,410
Ensembl chr17:86,753,700...86,833,410
JBrowse link
G Mmp3 matrix metallopeptidase 3 onset ISO RGD PMID:19551141 RGD:7241233 NCBI chr 9:7,445,822...7,455,975
Ensembl chr 9:7,445,822...7,455,975
JBrowse link
G Slc18a1 solute carrier family 18 (vesicular monoamine), member 1 ISO mRNA:increased expression:tumor (human) RGD PMID:16189177 RGD:5131200 NCBI chr 8:69,037,708...69,089,238
Ensembl chr 8:69,037,711...69,089,235
JBrowse link
G Vhl von Hippel-Lindau tumor suppressor ISO
IEA
ClinVar Annotator: match by term: Von Hippel-Lindau syndrome
OMIM:193300
ClinVar Annotator: match by OMIM:193300
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
MouseDO
CTD
PMID:982991, PMID:1056348, PMID:7553625, PMID:7563486, PMID:7660122, PMID:7728151, PMID:7759077, PMID:7784063, PMID:7915601, PMID:7977367, PMID:7987306, PMID:7987327, PMID:8069849, PMID:8187067, PMID:8239848, PMID:8270255, PMID:8493574, PMID:8522307, PMID:8550742, PMID:8592333, PMID:8634692, PMID:8641976, PMID:8707293, PMID:8730290, PMID:8772572, PMID:8825918, PMID:8825919, PMID:8863170, PMID:8956040, PMID:9058738, PMID:9143408, PMID:9156047, PMID:9209471, PMID:9215674, PMID:9329368, PMID:9398721, PMID:9399847, PMID:9435426, PMID:9452032, PMID:9663592, PMID:9671762, PMID:9681856, PMID:9751722, PMID:9770531, PMID:9829911, PMID:9829912, PMID:9880225, PMID:10088816, PMID:10102622, PMID:10205047, PMID:10326868, PMID:10340905, PMID:10364675, PMID:10408776, PMID:10458336, PMID:10533030, PMID:10563480, PMID:10567493, PMID:10570625, PMID:10581162, PMID:10587522, PMID:10612827, PMID:10627136, PMID:10697963, PMID:10761708, PMID:10766184, PMID:10823831, PMID:10878807, PMID:10900011, PMID:11058902, PMID:11106358, PMID:11114638, PMID:11171960, PMID:11257211, PMID:11309459, PMID:11331612, PMID:11331613, PMID:11409863, PMID:11483638, PMID:11505222, PMID:11536052, PMID:11688398, PMID:11709017, PMID:11739384, PMID:11865071, PMID:11921283, PMID:11987242, PMID:12000816, PMID:12004076, PMID:12050673, PMID:12056827, PMID:12081237, PMID:12114475, PMID:12114495, PMID:12202531, PMID:12351569, PMID:12393546, PMID:12414898, PMID:12415268, PMID:12500216, PMID:12510195, PMID:12538644, PMID:12624160, PMID:12702509, PMID:12807974, PMID:12844285, PMID:12853836, PMID:12912922, PMID:13985160, PMID:14500403, PMID:14556007, PMID:14604959, PMID:14722919, PMID:14726398, PMID:14767570, PMID:14973063, PMID:14987375, PMID:15109448, PMID:15177666, PMID:15300849, PMID:15574766, PMID:15611064, PMID:15642664, PMID:15642680, PMID:15881703, PMID:15932632, PMID:16142346, PMID:16210343, PMID:16261165, PMID:16314641, PMID:16452184, PMID:16488999, PMID:16502427, PMID:16505488, PMID:16572651, PMID:16669786, PMID:16775032, PMID:16809612, PMID:16847331, PMID:16868829, PMID:16884327, PMID:16952288, PMID:16969113, PMID:17001110, PMID:17024664, PMID:17060462, PMID:17102069, PMID:17102082, PMID:17102083, PMID:17264095, PMID:17350623, PMID:17406817, PMID:17407064, PMID:17526729, PMID:17640059, PMID:17661816, PMID:17688370, PMID:17906660, PMID:17919893, PMID:17922902, PMID:17967880, PMID:17992257, PMID:17997830, PMID:18205710, PMID:18209888, PMID:18446368, PMID:18544564, PMID:18551016, PMID:18567581, PMID:18580449, PMID:18584357, PMID:18676741, PMID:18685280, PMID:18836774, PMID:19009041, PMID:19029228, PMID:19030229, PMID:19096585, PMID:19215943, PMID:19228690, PMID:19252526, PMID:19258401, PMID:19270817, PMID:19280651, PMID:19293973, PMID:19304954, PMID:19309509, PMID:19336503, PMID:19408298, PMID:19464396, PMID:19494350, PMID:19574279, PMID:19602254, PMID:19620968, PMID:19763184, PMID:19764026, PMID:19808854, PMID:19906784, PMID:19949673, PMID:19958924, PMID:19996202, PMID:20034980, PMID:20054297, PMID:20120764, PMID:20151405, PMID:20233476, PMID:20351605, PMID:20388653, PMID:20447124, PMID:20518900, PMID:20560986, PMID:20567917, PMID:20583150, PMID:20660572, PMID:20846682, PMID:20850701, PMID:20855504, PMID:20952280, PMID:21204227, PMID:21258414, PMID:21362373, PMID:21389259, PMID:21454469, PMID:21463266, PMID:21606165, PMID:21685897, PMID:21713522, PMID:21715564, PMID:21784903, PMID:21876117, PMID:21972040, PMID:21993671, PMID:22071692, PMID:22105611, PMID:22105711, PMID:22156657, PMID:22234250, PMID:22241717, PMID:22357542, PMID:22393103, PMID:22438210, PMID:22462637, PMID:22517557, PMID:22649785, PMID:22683710, PMID:22799452, PMID:22825683, PMID:23015148, PMID:23036577, PMID:23070752, PMID:23102223, PMID:23298237, PMID:23315997, PMID:23318261, PMID:23384228, PMID:23403324, PMID:23434161, PMID:23512077, PMID:23541568, PMID:23606570, PMID:23660872, PMID:23673869, PMID:23772956, PMID:23788753, PMID:23840444, PMID:23842656, PMID:23845641, PMID:23859443, PMID:23990664, PMID:23990666, PMID:24033266, PMID:24055113, PMID:24102379, PMID:24132471, PMID:24134185, PMID:24206762, PMID:24301059, PMID:24339559, PMID:24446253, PMID:24466223, PMID:24555745, PMID:24581539, PMID:24583008, PMID:24678776, PMID:24707167, PMID:24727139, PMID:24728327, PMID:24729484, PMID:24969085, PMID:25078357, PMID:25119015, PMID:25157968, PMID:25282218, PMID:25371412, PMID:25557216, PMID:25562111, PMID:25563310, PMID:25583177, PMID:25586603, PMID:25637381, PMID:25715769, PMID:25720320, PMID:25741868, PMID:25867206, PMID:25952756, PMID:25966224, PMID:25985138, PMID:26206375, PMID:26211615, PMID:26268347, PMID:26332594, PMID:26467025, PMID:26503325, PMID:26580448, PMID:26681312, PMID:26763786, PMID:26822237, PMID:26845104, PMID:26920352, PMID:26973240, PMID:27034144, PMID:27057652, PMID:27146957, PMID:27179072, PMID:27311873, PMID:27439424, PMID:27498913, PMID:27527340, PMID:27530247, PMID:27539324, PMID:27617348, PMID:27651169, PMID:27730413, PMID:27785399, PMID:28052007, PMID:28202063, PMID:28349240, PMID:28379443, PMID:28388566, PMID:28454591, PMID:28469506, PMID:28492532, PMID:28503092, PMID:28643803, PMID:28775317, PMID:28873162, PMID:28944243, PMID:29124493, PMID:29616089, PMID:29748190, PMID:29749453, PMID:29790589, PMID:29871882, PMID:29891534, PMID:29949369, PMID:30042107, PMID:30105105, PMID:30311386, PMID:30338240, PMID:30943211, PMID:31034483, PMID:31149315, PMID:31779674, PMID:32238909 NCBI chr 6:113,623,994...113,631,634
Ensembl chr 6:113,623,959...113,631,633
JBrowse link
WHIM syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cxcr4 chemokine (C-X-C motif) receptor 4 ISO
IEA
ClinVar Annotator: match by term: Warts, hypogammaglobulinemia, infections, and myelokathexis
OMIM:193670
CTD Direct Evidence: marker/mechanism
DNA:frame shift, nonsense mutations:cds:1016_1017delCT,p.R334X,E343X(human)
ClinVar Annotator: match by OMIM:193670
OMIM
ClinVar
MouseDO
CTD
PMID:12692554, PMID:15536153, PMID:16899028, PMID:18436740, PMID:19956569, PMID:23734232, PMID:23794067, PMID:25662009, PMID:25741868, PMID:28492532, PMID:12692554 RGD:734860 NCBI chr 1:128,588,199...128,592,299
Ensembl chr 1:128,588,199...128,592,293
JBrowse link
G Dars aspartyl-tRNA synthetase ISO ClinVar Annotator: match by term: Warts, hypogammaglobulinemia, infections, and myelokathexis ClinVar PMID:28492532 NCBI chr 1:128,363,707...128,417,416
Ensembl chr 1:128,363,707...128,417,368
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 13395
    sensory system disease 5035
      skin disease 2629
        Skin Neoplasms 234
          Abdominal Chemodectomas with Cutaneous Angiolipomas 0
          Bazex-Dupre-Christol Syndrome 0
          Becker Nevus Syndrome 0
          Blue Rubber Bleb Nevus Syndrome 1
          Brooke-Spiegler syndrome 1
          Calcifying Epithelial Odontogenic Tumor 0
          Cardiomyopathy Hypogonadism Collagenoma Syndrome 0
          Davenport Donlan Syndrome 0
          Familial Cutaneous Collagenoma 1
          Familial Cutaneous Papillomatosis 0
          Familial Multiple Trichodiscomas 0
          Fanconi-like syndrome 2
          Hamartoma, Precalcaneal Congenital Fibrolipomatous 0
          Hereditary Leiomyomatosis and Renal Cell Cancer 13
          Palmoplantar Hyperkeratosis with Squamous Cell Carcinoma of Skin and Sex Reversal 1
          Phacomatosis Pigmentokeratotica 0
          Progressive Mucinous Histiocytosis 0
          Reactive Angioendotheliomatosis 0
          Rombo Syndrome 0
          Sclerotylosis 1
          Sweat Gland Neoplasms + 1
          Trichoepithelioma, Multiple Familial, 2 1
          Trichoepitheliomas, Multiple Desmoplastic 0
          Trichofolliculoma 0
          Tufted Angioma 0
          acanthoma + 3
          dermatopathia pigmentosa reticularis 1
          large congenital melanocytic nevus 3
          neurilemmomatosis 3
          sebaceous gland neoplasm + 5
          skin benign neoplasm + 53
          skin cancer + 118
Path 2
Term Annotations click to browse term
  disease 13395
    disease of anatomical entity 12871
      nervous system disease 10430
        sensory system disease 5035
          skin disease 2629
            Skin Neoplasms 234
              Abdominal Chemodectomas with Cutaneous Angiolipomas 0
              Bazex-Dupre-Christol Syndrome 0
              Becker Nevus Syndrome 0
              Blue Rubber Bleb Nevus Syndrome 1
              Brooke-Spiegler syndrome 1
              Calcifying Epithelial Odontogenic Tumor 0
              Cardiomyopathy Hypogonadism Collagenoma Syndrome 0
              Davenport Donlan Syndrome 0
              Familial Cutaneous Collagenoma 1
              Familial Cutaneous Papillomatosis 0
              Familial Multiple Trichodiscomas 0
              Fanconi-like syndrome 2
              Hamartoma, Precalcaneal Congenital Fibrolipomatous 0
              Hereditary Leiomyomatosis and Renal Cell Cancer 13
              Palmoplantar Hyperkeratosis with Squamous Cell Carcinoma of Skin and Sex Reversal 1
              Phacomatosis Pigmentokeratotica 0
              Progressive Mucinous Histiocytosis 0
              Reactive Angioendotheliomatosis 0
              Rombo Syndrome 0
              Sclerotylosis 1
              Sweat Gland Neoplasms + 1
              Trichoepithelioma, Multiple Familial, 2 1
              Trichoepitheliomas, Multiple Desmoplastic 0
              Trichofolliculoma 0
              Tufted Angioma 0
              acanthoma + 3
              dermatopathia pigmentosa reticularis 1
              large congenital melanocytic nevus 3
              neurilemmomatosis 3
              sebaceous gland neoplasm + 5
              skin benign neoplasm + 53
              skin cancer + 118
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.