Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

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
go back to main search page
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.


show annotations for term's descendants           Sort by:
 
Skin Neoplasms term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AGER advanced glycosylation end-product specific receptor ISO RGD PMID:18208974 RGD:8695988 NCBI chr 6:32,180,969...32,184,380
Ensembl chr 6:32,180,968...32,184,322
JBrowse link
G AIRE autoimmune regulator EXP CTD Direct Evidence: marker/mechanism CTD PMID:26168014 NCBI chr21:44,285,876...44,298,648
Ensembl chr21:44,285,838...44,298,648
JBrowse link
G AKT1 AKT serine/threonine kinase 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21351258 NCBI chr14:104,769,349...104,795,748
Ensembl chr14:104,769,349...104,795,751
JBrowse link
G ANXA1 annexin A1 ISO RGD PMID:22782996 RGD:7421558 NCBI chr 9:73,151,865...73,170,393
Ensembl chr 9:73,151,865...73,170,393
JBrowse link
G AQP3 aquaporin 3 (Gill blood group) EXP CTD Direct Evidence: marker/mechanism CTD PMID:21401805 NCBI chr 9:33,441,154...33,447,596
Ensembl chr 9:33,441,156...33,447,596
JBrowse link
G ASIP agouti signaling protein EXP CTD Direct Evidence: marker/mechanism CTD PMID:18488027 NCBI chr20:34,186,493...34,269,344
Ensembl chr20:34,194,569...34,269,344
JBrowse link
G CASP10 caspase 10 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18563783 NCBI chr 2:201,182,885...201,229,406
Ensembl chr 2:201,182,898...201,229,406
Ensembl chr 2:201,182,898...201,229,406
JBrowse link
G CASP8 caspase 8 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18563783 NCBI chr 2:201,233,443...201,287,711
Ensembl chr 2:201,233,443...201,287,711
JBrowse link
G CAT catalase disease_progression
treatment
ISO RGD PMID:1747937, PMID:21517247 RGD:9479155, RGD:9479189 NCBI chr11:34,438,934...34,472,060
Ensembl chr11:34,438,934...34,472,060
JBrowse link
G CDKN1A cyclin dependent kinase inhibitor 1A ISO RGD PMID:9264409 RGD:8662813 NCBI chr 6:36,676,463...36,687,332
Ensembl chr 6:36,676,460...36,687,339
Ensembl chr 6:36,676,460...36,687,339
JBrowse link
G CEBPA CCAAT enhancer binding protein alpha EXP CTD Direct Evidence: marker/mechanism CTD PMID:21346772 NCBI chr19:33,299,934...33,302,564
Ensembl chr19:33,299,934...33,302,534
JBrowse link
G CSF3 colony stimulating factor 3 EXP CTD Direct Evidence: therapeutic CTD PMID:9774950 NCBI chr17:40,015,440...40,017,813
Ensembl chr17:40,015,361...40,017,813
JBrowse link
G CSNK2A1 casein kinase 2 alpha 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18572023 NCBI chr20:472,498...543,790
Ensembl chr20:472,498...543,835
JBrowse link
G CSNK2A2 casein kinase 2 alpha 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18572023 NCBI chr16:58,157,907...58,198,106
Ensembl chr16:58,157,907...58,198,106
JBrowse link
G CSNK2B casein kinase 2 beta EXP CTD Direct Evidence: marker/mechanism CTD PMID:18572023 NCBI chr 6:31,666,080...31,670,067
Ensembl chr 6:31,665,236...31,670,343
Ensembl chr 6:31,665,236...31,670,343
JBrowse link
G CTNNB1 catenin beta 1 ISO protein:increased expression:cytosol: RGD PMID:11517342 RGD:10395257 NCBI chr 3:41,199,422...41,240,445
Ensembl chr 3:41,194,741...41,260,096
JBrowse link
G CYLD CYLD lysine 63 deubiquitinase susceptibility IAGP familial cylindromatosis, OMIM:132700;DNA:nonsense mutations RGD PMID:10835629 RGD:1601033 NCBI chr16:50,742,086...50,801,935
Ensembl chr16:50,742,050...50,801,935
JBrowse link
G EPHX1 epoxide hydrolase 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:26295053 NCBI chr 1:225,810,124...225,845,563
Ensembl chr 1:225,810,092...225,845,563
JBrowse link
G ERBB4 erb-b2 receptor tyrosine kinase 4 EXP CTD Direct Evidence: marker/mechanism CTD PMID:19718025 NCBI chr 2:211,375,717...212,538,802
Ensembl chr 2:211,375,717...212,538,841
JBrowse link
G ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit EXP CTD Direct Evidence: marker/mechanism CTD PMID:17050553 NCBI chr19:45,349,837...45,370,647
Ensembl chr19:45,349,837...45,370,918
JBrowse link
G FLT1 fms related receptor tyrosine kinase 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:19718025 NCBI chr13:28,300,346...28,495,128
Ensembl chr13:28,300,346...28,495,145
JBrowse link
G GJA1 gap junction protein alpha 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:7586191 NCBI chr 6:121,435,646...121,449,727
Ensembl chr 6:121,435,595...121,449,727
JBrowse link
G GJB2 gap junction protein beta 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:7586191 NCBI chr13:20,187,470...20,192,938
Ensembl chr13:20,187,463...20,192,938
JBrowse link
G GJB5 gap junction protein beta 5 EXP CTD Direct Evidence: marker/mechanism CTD PMID:7586191 NCBI chr 1:34,754,777...34,758,513
Ensembl chr 1:34,755,047...34,758,512
JBrowse link
G GLI2 GLI family zinc finger 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:10700170 NCBI chr 2:120,735,868...120,992,653
Ensembl chr 2:120,735,623...120,992,653
JBrowse link
G GSTT1 glutathione S-transferase theta 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:26295053
G GYPA glycophorin A (MNS blood group) EXP CTD Direct Evidence: marker/mechanism CTD PMID:17029826 NCBI chr 4:144,109,303...144,140,854
Ensembl chr 4:144,109,303...144,140,751
JBrowse link
G HCAR2 hydroxycarboxylic acid receptor 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21655214 NCBI chr12:122,701,293...122,703,357
Ensembl chr12:122,701,293...122,703,357
JBrowse link
G HCAR3 hydroxycarboxylic acid receptor 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21655214 NCBI chr12:122,714,756...122,716,811
Ensembl chr12:122,714,756...122,716,811
JBrowse link
G HGF hepatocyte growth factor susceptibility ISO RGD PMID:10919643 RGD:8548621 NCBI chr 7:81,699,006...81,770,438
Ensembl chr 7:81,699,010...81,770,438
JBrowse link
G HIF1A hypoxia inducible factor 1 subunit alpha EXP CTD Direct Evidence: marker/mechanism CTD PMID:19276359 NCBI chr14:61,695,513...61,748,259
Ensembl chr14:61,695,513...61,748,259
JBrowse link
G HRAS HRas proto-oncogene, GTPase EXP CTD Direct Evidence: marker/mechanism CTD PMID:8330346, PMID:8508502, PMID:9766437, PMID:15958052, PMID:18758463, PMID:24898257, PMID:26558449 NCBI chr11:532,242...535,576
Ensembl chr11:532,242...537,287
JBrowse link
G IGF1 insulin like growth factor 1 IMP
EXP
CTD Direct Evidence: marker/mechanism CTD PMID:24353828, PMID:9135074 RGD:8549453 NCBI chr12:102,395,860...102,481,839
Ensembl chr12:102,395,874...102,481,744
JBrowse link
G IGF1R insulin like growth factor 1 receptor EXP CTD Direct Evidence: marker/mechanism CTD PMID:10365914 NCBI chr15:98,648,539...98,964,530
Ensembl chr15:98,648,539...98,964,530
JBrowse link
G IL1A interleukin 1 alpha EXP CTD Direct Evidence: marker/mechanism CTD PMID:8435107 NCBI chr 2:112,773,925...112,784,493
Ensembl chr 2:112,773,925...112,784,493
Ensembl chr 2:112,773,925...112,784,493
JBrowse link
G IVL involucrin EXP CTD Direct Evidence: marker/mechanism CTD PMID:18572023 NCBI chr 1:152,908,545...152,911,886
Ensembl chr 1:152,908,546...152,911,886
JBrowse link
G KRT1 keratin 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18572023 NCBI chr12:52,674,736...52,680,407
Ensembl chr12:52,674,736...52,680,407
JBrowse link
G KRT10 keratin 10 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18572023 NCBI chr17:40,818,117...40,822,614
Ensembl chr17:40,818,117...40,822,614
JBrowse link
G KRT17 keratin 17 EXP CTD Direct Evidence: marker/mechanism CTD PMID:26168014 NCBI chr17:41,619,442...41,624,575
Ensembl chr17:41,619,442...41,624,842
JBrowse link
G LORICRIN loricrin cornified envelope precursor protein EXP CTD Direct Evidence: marker/mechanism CTD PMID:18572023 NCBI chr 1:153,259,635...153,262,125
Ensembl chr 1:153,259,687...153,262,124
JBrowse link
G MAP2K4 mitogen-activated protein kinase kinase 4 treatment ISO RGD PMID:21378167 RGD:7495826 NCBI chr17:12,020,822...12,143,828
Ensembl chr17:12,020,829...12,143,830
JBrowse link
G MMP9 matrix metallopeptidase 9 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18572023 NCBI chr20:46,008,908...46,016,561
Ensembl chr20:46,008,908...46,016,561
JBrowse link
G NFE2L2 nuclear factor, erythroid 2 like 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18572023 NCBI chr 2:177,230,303...177,265,131
Ensembl chr 2:177,227,595...177,392,697
JBrowse link
G NME2 NME/NM23 nucleoside diphosphate kinase 2 ISO protein:increased expression:tumor (mouse) RGD PMID:14623877 RGD:5132889 NCBI chr17:51,165,536...51,171,744
Ensembl chr17:51,165,435...51,171,744
Ensembl chr17:51,165,435...51,171,744
JBrowse link
G NOTCH1 notch receptor 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:27923803 NCBI chr 9:136,494,433...136,546,048
Ensembl chr 9:136,494,433...136,546,048
JBrowse link
G NOTCH2 notch receptor 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:27923803 NCBI chr 1:119,911,553...120,069,662
Ensembl chr 1:119,911,553...120,100,779
JBrowse link
G NOTCH3 notch receptor 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:27923803 NCBI chr19:15,159,038...15,200,995
Ensembl chr19:15,159,038...15,200,995
JBrowse link
G NOTCH4 notch receptor 4 EXP CTD Direct Evidence: marker/mechanism CTD PMID:27923803 NCBI chr 6:32,194,843...32,224,067
Ensembl chr 6:32,194,843...32,224,067
JBrowse link
G NPPA natriuretic peptide A EXP CTD Direct Evidence: therapeutic CTD PMID:18004088 NCBI chr 1:11,845,709...11,847,783
Ensembl chr 1:11,845,709...11,848,345
JBrowse link
G NSD1 nuclear receptor binding SET domain protein 1 ISO RGD PMID:22832494 RGD:9590156 NCBI chr 5:177,131,835...177,300,213
Ensembl chr 5:177,133,025...177,300,213
Ensembl chr 5:177,133,025...177,300,213
JBrowse link
G ODC1 ornithine decarboxylase 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:2591024, PMID:7653998 NCBI chr 2:10,439,968...10,448,327
Ensembl chr 2:10,439,968...10,448,327
JBrowse link
G PLCD1 phospholipase C delta 1 ISO RGD PMID:12805213 RGD:1302551 NCBI chr 3:38,007,496...38,029,642
Ensembl chr 3:38,007,496...38,029,642
Ensembl chr 3:38,007,496...38,029,642
JBrowse link
G POT1 protection of telomeres 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:24686849 NCBI chr 7:124,822,386...124,929,825
Ensembl chr 7:124,822,386...124,929,983
JBrowse link
G PPARD peroxisome proliferator activated receptor delta EXP CTD Direct Evidence: marker/mechanism|therapeutic CTD PMID:19748995, PMID:21159610 NCBI chr 6:35,342,558...35,428,180
Ensembl chr 6:35,342,558...35,428,191
JBrowse link
G PTCH1 patched 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:9581815 NCBI chr 9:95,442,980...95,516,971
Ensembl chr 9:95,442,980...95,517,057
JBrowse link
G PTGS2 prostaglandin-endoperoxide synthase 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:17499752, PMID:19748995, PMID:21159610 NCBI chr 1:186,671,791...186,680,423
Ensembl chr 1:186,671,791...186,680,423
JBrowse link
G PTK2B protein tyrosine kinase 2 beta EXP CTD Direct Evidence: marker/mechanism CTD PMID:19718025 NCBI chr 8:27,311,478...27,459,391
Ensembl chr 8:27,311,482...27,459,391
JBrowse link
G RELA RELA proto-oncogene, NF-kB subunit EXP CTD Direct Evidence: marker/mechanism CTD PMID:23069812 NCBI chr11:65,653,601...65,662,946
Ensembl chr11:65,653,597...65,663,090
JBrowse link
G SMO smoothened, frizzled class receptor EXP CTD Direct Evidence: marker/mechanism CTD PMID:9581815 NCBI chr 7:129,188,633...129,213,548
Ensembl chr 7:129,188,633...129,213,545
JBrowse link
G SOD2 superoxide dismutase 2 disease_progression ISO
EXP
IDA
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 chr 6:159,669,069...159,762,281
Ensembl chr 6:159,669,069...159,762,529
Ensembl chr 6:159,669,069...159,762,529
Ensembl chr 6:159,669,069...159,762,529
JBrowse link
G SP1 Sp1 transcription factor EXP CTD Direct Evidence: marker/mechanism CTD PMID:22009531 NCBI chr12:53,380,176...53,416,446
Ensembl chr12:53,380,176...53,416,446
JBrowse link
G STAT3 signal transducer and activator of transcription 3 ISO RGD PMID:19137019, PMID:18453544 RGD:8694289, RGD:8694294 NCBI chr17:42,313,324...42,388,502
Ensembl chr17:42,313,324...42,388,482
Ensembl chr17:42,313,324...42,388,482
JBrowse link
G TGFB1 transforming growth factor beta 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:8148055 NCBI chr19:41,330,323...41,353,922
Ensembl chr19:41,301,587...41,353,922
JBrowse link
G TGFBR1 transforming growth factor beta receptor 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21358634 NCBI chr 9:99,104,038...99,154,192
Ensembl chr 9:99,104,038...99,154,192
JBrowse link
G TP53 tumor protein p53 IAGP
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 chr17:7,668,402...7,687,550
Ensembl chr17:7,661,779...7,687,538
Ensembl chr17:7,661,779...7,687,538
JBrowse link
G TYR tyrosinase EXP CTD Direct Evidence: marker/mechanism CTD PMID:18488027 NCBI chr11:89,177,565...89,295,759
Ensembl chr11:89,177,875...89,295,759
JBrowse link
G VEGFA vascular endothelial growth factor A ISO RGD PMID:15150105 RGD:7421589 NCBI chr 6:43,770,209...43,786,487
Ensembl chr 6:43,770,184...43,786,487
JBrowse link
G XPA XPA, DNA damage recognition and repair factor EXP CTD Direct Evidence: marker/mechanism CTD PMID:10755388, PMID:16962818 NCBI chr 9:97,654,398...97,697,403
Ensembl chr 9:97,674,909...97,697,357
Ensembl chr 9:97,674,909...97,697,357
JBrowse link
G XRCC3 X-ray repair cross complementing 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:11059748, PMID:16501254 NCBI chr14:103,697,611...103,715,486
Ensembl chr14:103,697,609...103,715,504
JBrowse link
angiokeratoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GLA galactosidase alpha EXP CTD Direct Evidence: therapeutic CTD PMID:19925601 NCBI chr  X:101,397,803...101,407,925
Ensembl chr  X:101,393,273...101,408,012
Ensembl chr  X:101,393,273...101,408,012
JBrowse link
G NAGA alpha-N-acetylgalactosaminidase IAGP Kanzaki Disease, OMIM:609242, DNA:point mutation:exon:R329W RGD PMID:8040340 RGD:1600558 NCBI chr22:42,058,334...42,070,842
Ensembl chr22:42,058,334...42,070,842
JBrowse link
anogenital venereal wart term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CCL20 C-C motif chemokine ligand 20 IEP protein:decreased expression:skin RGD PMID:17545018 RGD:7483603 NCBI chr 2:227,813,842...227,817,556
Ensembl chr 2:227,805,739...227,817,564
JBrowse link
G IFNA6 interferon alpha 6 treatment IEP RGD PMID:25774455 RGD:36174028 NCBI chr 9:21,350,318...21,350,887
Ensembl chr 9:21,349,835...21,351,378
JBrowse link
G IL12B interleukin 12B treatment IEP RGD PMID:16114559 RGD:7829774 NCBI chr 5:159,314,780...159,330,487
Ensembl chr 5:159,314,780...159,330,487
Ensembl chr 5:159,314,780...159,330,487
JBrowse link
G IL4 interleukin 4 treatment IEP RGD PMID:16114559 RGD:7829774 NCBI chr 5:132,673,989...132,682,678
Ensembl chr 5:132,673,986...132,682,678
JBrowse link
G PTPN11 protein tyrosine phosphatase non-receptor type 11 IEP protein:increased expression:foreskin RGD PMID:18543080 RGD:39128248 NCBI chr12:112,418,915...112,509,918
Ensembl chr12:112,418,351...112,509,913
Ensembl chr12:112,418,351...112,509,913
JBrowse link
G PTPN6 protein tyrosine phosphatase non-receptor type 6 IEP protein:increased expression:foreskin RGD PMID:18543080 RGD:39128248 NCBI chr12:6,946,577...6,961,316
Ensembl chr12:6,946,468...6,961,316
JBrowse link
G SERPINF1 serpin family F member 1 disease_progression IEP mRNA, protein:decreased expression:skin of body (human) RGD PMID:23569025 RGD:27226706 NCBI chr17:1,762,060...1,777,565
Ensembl chr17:1,762,029...1,777,565
JBrowse link
basal cell carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ASIP agouti signaling protein EXP CTD Direct Evidence: marker/mechanism CTD PMID:18488027 NCBI chr20:34,186,493...34,269,344
Ensembl chr20:34,194,569...34,269,344
JBrowse link
G BAP1 BRCA1 associated protein 1 IAGP
EXP
CTD Direct Evidence: marker/mechanism CTD PMID:26719535, PMID:25080371 RGD:9586038 NCBI chr 3:52,401,004...52,410,030
Ensembl chr 3:52,401,008...52,410,008
JBrowse link
G CCNH cyclin H IAGP ClinVar Annotator: match by term: Basal cell carcinoma, somatic
ClinVar Annotator: match by term: BCC1
ClinVar PMID:8275088, PMID:25741868, PMID:28492532 NCBI chr 5:87,311,471...87,412,971
Ensembl chr 5:87,318,416...87,412,930
JBrowse link
G CLPTM1L CLPTM1 like EXP CTD Direct Evidence: marker/mechanism CTD PMID:19151717 NCBI chr 5:1,317,752...1,345,099
Ensembl chr 5:1,317,752...1,345,099
JBrowse link
G CRNKL1 crooked neck pre-mRNA splicing factor 1 IAGP DNA:missense mutation:cds:p.S128F (human) RGD PMID:23774526 RGD:9850250 NCBI chr20:20,034,368...20,056,046
Ensembl chr20:20,034,368...20,056,046
JBrowse link
G CTLA4 cytotoxic T-lymphocyte associated protein 4 susceptibility IAGP DNA:SNP: :rs3087243(human) RGD PMID:19622768 RGD:7411686 NCBI chr 2:203,867,771...203,873,965
Ensembl chr 2:203,867,771...203,873,965
JBrowse link
G ERBB2 erb-b2 receptor tyrosine kinase 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:26950094 NCBI chr17:39,688,094...39,728,660
Ensembl chr17:39,687,914...39,730,426
JBrowse link
G FBXW7 F-box and WD repeat domain containing 7 EXP CTD Direct Evidence: marker/mechanism CTD PMID:26950094 NCBI chr 4:152,320,544...152,536,873
Ensembl chr 4:152,320,544...152,536,092
JBrowse link
G GLI2 GLI family zinc finger 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:10700170 NCBI chr 2:120,735,868...120,992,653
Ensembl chr 2:120,735,623...120,992,653
JBrowse link
G HHIP hedgehog interacting protein treatment ISO mRNA:increased expression:skin: RGD PMID:15024045, PMID:15024045 RGD:11552592, RGD:11552592 NCBI chr 4:144,646,154...144,745,271
Ensembl chr 4:144,646,156...144,745,271
JBrowse link
G IL6 interleukin 6 EXP CTD Direct Evidence: marker/mechanism CTD PMID:22108589 NCBI chr 7:22,725,889...22,732,002
Ensembl chr 7:22,725,884...22,732,002
JBrowse link
G KRT17 keratin 17 EXP CTD Direct Evidence: marker/mechanism CTD PMID:20871598 NCBI chr17:41,619,442...41,624,575
Ensembl chr17:41,619,442...41,624,842
JBrowse link
G KRT5 keratin 5 EXP CTD Direct Evidence: marker/mechanism CTD PMID:19578363, PMID:20871598 NCBI chr12:52,514,575...52,520,394
Ensembl chr12:52,514,575...52,520,530
JBrowse link
G LATS1 large tumor suppressor kinase 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:26950094 NCBI chr 6:149,658,153...149,718,101
Ensembl chr 6:149,658,153...149,718,105
JBrowse link
G LOC100507346 uncharacterized LOC100507346 IAGP ClinVar Annotator: match by term: BCC1
ClinVar Annotator: match by term: Basal cell epithelioma
ClinVar PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr 9:95,463,609...95,470,019 JBrowse link
G MC1R melanocortin 1 receptor EXP CTD Direct Evidence: marker/mechanism CTD PMID:18539553 NCBI chr16:89,918,862...89,920,972
Ensembl chr16:89,912,119...89,920,973
Ensembl chr16:89,912,119...89,920,973
JBrowse link
G MYCN MYCN proto-oncogene, bHLH transcription factor EXP CTD Direct Evidence: marker/mechanism CTD PMID:26950094 NCBI chr 2:15,940,550...15,947,004
Ensembl chr 2:15,940,550...15,947,007
JBrowse link
G OCA2 OCA2 melanosomal transmembrane protein susceptibility IAGP DNA:snps:intron:IVS1+132A>G (rs7495174), IVS1+8550A>G (rs11855019), IVS1+15605G>A (rs7174027) (human)
DNA:missense mutation:cds:p.R419Q (rs1800407) (human)
RGD PMID:21270109, PMID:19384953 RGD:9491840, RGD:9491841 NCBI chr15:27,719,008...28,099,342
Ensembl chr15:27,754,875...28,099,315
JBrowse link
G OGG1 8-oxoguanine DNA glycosylase no_association IEP
IAGP
DNA:missense mutation: :p.S326C (rs1052133)(human) RGD PMID:22436579, PMID:15466987 RGD:8657137, RGD:8657158 NCBI chr 3:9,749,952...9,788,246
Ensembl chr 3:9,749,944...9,788,219
JBrowse link
G PALB2 partner and localizer of BRCA2 IAGP ClinVar Annotator: match by term: Basal cell carcinoma ClinVar PMID:27878467 NCBI chr16:23,603,162...23,641,337
Ensembl chr16:23,603,160...23,641,310
JBrowse link
G PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha EXP CTD Direct Evidence: marker/mechanism CTD PMID:26950094 NCBI chr 3:179,148,114...179,240,093
Ensembl chr 3:179,148,114...179,240,093
JBrowse link
G POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) IAGP 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 1:46,188,683...46,220,305
Ensembl chr 1:46,188,682...46,220,305
JBrowse link
G PPP6C protein phosphatase 6 catalytic subunit EXP CTD Direct Evidence: marker/mechanism CTD PMID:26950094 NCBI chr 9:125,146,573...125,189,803
Ensembl chr 9:125,146,573...125,189,939
JBrowse link
G PTCH1 patched 1 susceptibility
disease_progression
ISO
IAGP
EXP
IEP
ClinVar Annotator: match by term: Basal cell epithelioma
ClinVar Annotator: match by term: Basal cell carcinoma
ClinVar Annotator: match by term: BCC1
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Basal cell carcinoma, somatic
mRNA:increased expression:skin of body
ClinVar
OMIM
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 chr 9:95,442,980...95,516,971
Ensembl chr 9:95,442,980...95,517,057
JBrowse link
G PTCH2 patched 2 susceptibility IAGP
EXP
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 1:44,819,845...44,843,253
Ensembl chr 1:44,819,844...44,843,253
JBrowse link
G PTPN14 protein tyrosine phosphatase non-receptor type 14 EXP CTD Direct Evidence: marker/mechanism CTD PMID:26950094 NCBI chr 1:214,348,700...214,551,677
Ensembl chr 1:214,348,700...214,552,449
JBrowse link
G RASA1 RAS p21 protein activator 1 susceptibility IAGP
EXP
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 chr 5:87,267,845...87,391,916
Ensembl chr 5:87,267,883...87,391,931
JBrowse link
G RB1 RB transcriptional corepressor 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:26950094 NCBI chr13:48,303,751...48,481,890
Ensembl chr13:48,303,744...48,599,436
Ensembl chr13:48,303,744...48,599,436
JBrowse link
G RPE65 retinoid isomerohydrolase RPE65 IEP mRNA:increased expression:skin (human) RGD PMID:16181461 RGD:9495923 NCBI chr 1:68,428,822...68,450,322
Ensembl chr 1:68,428,822...68,449,954
JBrowse link
G SHH sonic hedgehog signaling molecule IDA DNA, protein:hypermethylation, decreased expression:skin of body RGD PMID:23284750 RGD:12801452 NCBI chr 7:155,799,980...155,812,463
Ensembl chr 7:155,799,980...155,812,463
JBrowse link
G SLC45A2 solute carrier family 45 member 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:19578363 NCBI chr 5:33,944,623...33,984,693
Ensembl chr 5:33,944,623...33,984,693
JBrowse link
G SMO smoothened, frizzled class receptor susceptibility
disease_progression
IAGP
EXP
IEP
DNA:missense mutations:cds:p.W535L, p.R562Q (human)
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Carcinoma, Basal Cell
ClinVar Annotator: match by term: Basal cell carcinoma, sporadic
mRNA:increased expression:skin of body
OMIM
CTD
ClinVar
PMID:9422511, PMID:9581815, PMID:19726788, PMID:22679179, PMID:25759020, PMID:26950094, PMID:9422511, PMID:10504535 RGD:704355, RGD:12801453 NCBI chr 7:129,188,633...129,213,548
Ensembl chr 7:129,188,633...129,213,545
JBrowse link
G STK19 serine/threonine kinase 19 EXP CTD Direct Evidence: marker/mechanism CTD PMID:26950094 NCBI chr 6:31,971,175...31,981,446
Ensembl chr 6:31,971,091...31,982,821
JBrowse link
G SUFU SUFU negative regulator of hedgehog signaling EXP CTD Direct Evidence: marker/mechanism CTD PMID:26950094 NCBI chr10:102,502,801...102,633,535
Ensembl chr10:102,503,987...102,633,535
Ensembl chr10:102,503,987...102,633,535
JBrowse link
G TERT telomerase reverse transcriptase EXP CTD Direct Evidence: marker/mechanism CTD PMID:19151717 NCBI chr 5:1,253,167...1,295,068
Ensembl chr 5:1,253,147...1,295,068
Ensembl chr 5:1,253,147...1,295,068
JBrowse link
G TP53 tumor protein p53 IAGP
EXP
IEP
DNA:mutations:cds:
ClinVar Annotator: match by term: Basal cell carcinoma, susceptibility to, 7
CTD Direct Evidence: marker/mechanism
ClinVar
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 chr17:7,668,402...7,687,550
Ensembl chr17:7,661,779...7,687,538
Ensembl chr17:7,661,779...7,687,538
JBrowse link
G TSPAN1 tetraspanin 1 IAGP 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 1:46,175,087...46,196,489
Ensembl chr 1:46,175,073...46,185,962
JBrowse link
G TYR tyrosinase EXP CTD Direct Evidence: marker/mechanism CTD PMID:18488027 NCBI chr11:89,177,565...89,295,759
Ensembl chr11:89,177,875...89,295,759
JBrowse link
G VDR vitamin D receptor IAGP
IEP
DNA:SNPs, haplotype: :rs731236, rs7975232 (human)
mRNA:increased expression:skin
RGD PMID:22213323, PMID:15077124 RGD:8158063, RGD:8158076 NCBI chr12:47,841,537...47,905,022
Ensembl chr12:47,841,537...47,943,048
JBrowse link
G XPA XPA, DNA damage recognition and repair factor EXP CTD Direct Evidence: marker/mechanism CTD PMID:17687452 NCBI chr 9:97,654,398...97,697,403
Ensembl chr 9:97,674,909...97,697,357
Ensembl chr 9:97,674,909...97,697,357
JBrowse link
G XRCC3 X-ray repair cross complementing 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:16501254 NCBI chr14:103,697,611...103,715,486
Ensembl chr14:103,697,609...103,715,504
JBrowse link
G XRCC5 X-ray repair cross complementing 5 IEP protein:increased expression:epidermal cell, basal cell of epidermis (human) RGD PMID:16497868 RGD:8698657 NCBI chr 2:216,109,348...216,206,293
Ensembl chr 2:216,107,464...216,206,303
JBrowse link
G XRCC6 X-ray repair cross complementing 6 IEP protein:increased expression:epidermal cell, basal cell of epidermis (human) RGD PMID:16497868 RGD:8698657 NCBI chr22:41,621,295...41,664,041
Ensembl chr22:41,621,163...41,664,048
Ensembl chr22:41,621,163...41,664,048
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 IAGP ClinVar Annotator: match by term: Blue rubber bleb nevus ClinVar NCBI chr 1:92,245,786...92,441,936
Ensembl chr 1:92,246,402...92,298,987
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 IAGP
EXP
ClinVar Annotator: match by term: Spiegler-Brooke syndrome
ClinVar Annotator: match by term: Familial multiple trichoepitheliomata
ClinVar Annotator: match by term: Cylindromatosis, familial
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:10835629, PMID:12190880, PMID:12950348, PMID:14632188, PMID:15854031, PMID:16307661, PMID:16922728, PMID:18234730, PMID:19807742, PMID:24728327, PMID:28492532 NCBI chr16:50,742,086...50,801,935
Ensembl chr16:50,742,050...50,801,935
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 chain IAGP ClinVar Annotator: match by term: Capillary hemangioma ClinVar PMID:25741868, PMID:30311386 NCBI chr17:50,184,096...50,201,649
Ensembl chr17:50,183,289...50,201,632
Ensembl chr17:50,183,289...50,201,632
JBrowse link
G NPC1 NPC intracellular cholesterol transporter 1 IAGP ClinVar Annotator: match by term: Capillary hemangiomas ClinVar PMID:25741868 NCBI chr18:23,506,184...23,586,506
Ensembl chr18:23,506,184...23,586,506
JBrowse link
Capillary Hemangioma, Infantile term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANTXR1 ANTXR cell adhesion molecule 1 IAGP ClinVar Annotator: match by term: Hemangioma, capillary infantile, susceptibility to ClinVar
OMIM
PMID:18931684 NCBI chr 2:69,013,144...69,249,327
Ensembl chr 2:69,013,178...69,249,327
JBrowse link
G FLT4 fms related receptor tyrosine kinase 4 IAGP ClinVar Annotator: match by term: Hemangioma, capillary infantile, susceptibility to OMIM
ClinVar
PMID:11807987, PMID:25741868, PMID:28492532 NCBI chr 5:180,601,506...180,650,298
Ensembl chr 5:180,601,506...180,649,624
JBrowse link
G KDR kinase insert domain receptor IAGP ClinVar Annotator: match by term: Hemangioma, capillary infantile, susceptibility to ClinVar
OMIM
PMID:11807987, PMID:18931684, PMID:24033266, PMID:24728327 NCBI chr 4:55,078,481...55,125,595
Ensembl chr 4:55,078,481...55,125,595
JBrowse link
G MYH9 myosin heavy chain 9 IAGP ClinVar Annotator: match by term: Hemangioma, capillary infantile ClinVar NCBI chr22:36,281,280...36,387,967
Ensembl chr22:36,281,277...36,388,067
Ensembl chr22:36,281,277...36,388,067
JBrowse link
G SLC2A1 solute carrier family 2 member 1 IEP RGD PMID:17554865 RGD:12879502 NCBI chr 1:42,925,353...42,958,868
Ensembl chr 1:42,925,353...42,958,893
Ensembl chr 1:42,925,353...42,958,893
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 IAGP ClinVar Annotator: match by term: Cerebellar hemangioblastoma ClinVar PMID:25741868, PMID:28492532 NCBI chr 3:10,141,778...10,153,667
Ensembl chr 3:10,141,008...10,152,220
Ensembl chr 3:10,141,008...10,152,220
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 IAGP ClinVar Annotator: match by term: FAMILIAL ATYPICAL MOLE-MALIGNANT MELANOMA SYNDROME
ClinVar Annotator: match by term: Malignant melanoma
ClinVar PMID:10201537, PMID:10208439, PMID:25157968 NCBI chr19:1,205,778...1,228,431
Ensembl chr19:1,177,558...1,228,431
Ensembl chr19:1,177,558...1,228,431
JBrowse link
cutaneous Paget's disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha severity IAGP DNA:mutations:multiple: RGD PMID:22522847 RGD:14402410 NCBI chr 3:179,148,114...179,240,093
Ensembl chr 3:179,148,114...179,240,093
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 IAGP ClinVar Annotator: match by term: Dermatopathia pigmentosa reticularis ClinVar
OMIM
PMID:1303619, PMID:16960809 NCBI chr17:41,582,279...41,586,895
Ensembl chr17:41,582,279...41,586,895
JBrowse link
epidermal appendage tumor term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TMEM207 transmembrane protein 207 ISS MouseDO NCBI chr 3:190,428,655...190,449,901
Ensembl chr 3:190,428,655...190,449,876
JBrowse link
epidermodysplasia verruciformis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TMC6 transmembrane channel like 6 EXP
IAGP
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Epidermodysplasia verruciformis
CTD
ClinVar
PMID:15042430, PMID:17139267, PMID:25741868, PMID:28492532 NCBI chr17:78,107,397...78,132,427
Ensembl chr17:78,107,397...78,132,407
Ensembl chr17:78,107,397...78,132,407
Ensembl chr17:78,107,397...78,132,407
JBrowse link
G TMC8 transmembrane channel like 8 IAGP ClinVar Annotator: match by term: Epidermodysplasia verruciformis ClinVar PMID:12426567, PMID:22158547, PMID:25741868, PMID:28492532 NCBI chr17:78,129,298...78,142,968
Ensembl chr17:78,130,770...78,142,968
JBrowse link
Epidermodysplasia Verruciformis 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TMC6 transmembrane channel like 6 IAGP ClinVar Annotator: match by term: EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 1 ClinVar
OMIM
PMID:12426567, PMID:15042430, PMID:17139267, PMID:25741868, PMID:28492532 NCBI chr17:78,107,397...78,132,427
Ensembl chr17:78,107,397...78,132,407
Ensembl chr17:78,107,397...78,132,407
Ensembl chr17:78,107,397...78,132,407
JBrowse link
G TMC8 transmembrane channel like 8 IAGP ClinVar Annotator: match by term: EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 1 ClinVar PMID:25741868, PMID:28492532 NCBI chr17:78,129,298...78,142,968
Ensembl chr17:78,130,770...78,142,968
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 8 IAGP 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 chr17:78,129,298...78,142,968
Ensembl chr17:78,130,770...78,142,968
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 IAGP 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 chr15:90,229,975...90,265,759
Ensembl chr15:90,229,975...90,234,047
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 IAGP ClinVar Annotator: match by term: EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 4 ClinVar
OMIM
PMID:22850876 NCBI chr 4:40,191,080...40,246,967
Ensembl chr 4:40,191,053...40,246,967
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 IAGP ClinVar Annotator: match by term: EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 5 OMIM
ClinVar
PMID:25981006 NCBI chr 8:78,675,870...78,806,830
Ensembl chr 8:78,675,743...78,805,523
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 IAGP DNA:transition mutation:intron: 1522+1G>A(human) RGD PMID:17223882 RGD:11553841 NCBI chr12:65,169,583...65,248,355
Ensembl chr12:65,169,583...65,248,355
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 IAGP ClinVar Annotator: match by term: Hereditary cutaneous melanoma
ClinVar Annotator: match by term: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 3
ClinVar Annotator: match by term: Cutaneous Malignant Melanoma, Dominant
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 chr12:57,747,727...57,752,310
Ensembl chr12:57,747,727...57,756,013
JBrowse link
G CDKN2A cyclin dependent kinase inhibitor 2A IAGP ClinVar Annotator: match by term: 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 9:21,967,752...21,995,324
Ensembl chr 9:21,967,753...21,995,301
JBrowse link
G CDKN2A-DT CDKN2A divergent transcript IAGP ClinVar Annotator: match by term: Hereditary cutaneous melanoma ClinVar PMID:28492532 NCBI chr 9:21,967,139...21,967,754
Ensembl chr 9:21,966,929...21,967,751
JBrowse link
G FANCA FA complementation group A IAGP ClinVar Annotator: match by term: Cutaneous malignant melanoma 5 ClinVar PMID:28492532 NCBI chr16:89,737,549...89,816,647
Ensembl chr16:89,737,549...89,816,657
JBrowse link
G KLC1 kinesin light chain 1 IAGP ClinVar Annotator: match by term: Cutaneous malignant melanoma 6 ClinVar PMID:11059748 NCBI chr14:103,629,211...103,701,544
Ensembl chr14:103,561,896...103,714,249
JBrowse link
G MC1R melanocortin 1 receptor IAGP ClinVar Annotator: match by term: Cutaneous malignant melanoma 5
ClinVar Annotator: match by term: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 5
ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10
ClinVar
OMIM
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 chr16:89,918,862...89,920,972
Ensembl chr16:89,912,119...89,920,973
Ensembl chr16:89,912,119...89,920,973
JBrowse link
G MIR6759 microRNA 6759 IAGP ClinVar Annotator: match by term: Hereditary cutaneous melanoma ClinVar PMID:28492532 NCBI chr12:57,748,618...57,748,682
Ensembl chr12:57,748,618...57,748,682
JBrowse link
G MITF melanocyte inducing transcription factor susceptibility EXP
IAGP
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 3:69,739,464...69,968,332
Ensembl chr 3:69,739,464...69,968,336
Ensembl chr 3:69,739,464...69,968,336
JBrowse link
G POT1 protection of telomeres 1 susceptibility IAGP
EXP
ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10
ClinVar Annotator: match by term: Hereditary cutaneous melanoma
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 7:124,822,386...124,929,825
Ensembl chr 7:124,822,386...124,929,983
JBrowse link
G SPIRE2 spire type actin nucleation factor 2 IAGP ClinVar Annotator: match by term: Cutaneous malignant melanoma 5 ClinVar PMID:28492532 NCBI chr16:89,828,475...89,871,319
Ensembl chr16:89,818,179...89,871,319
JBrowse link
G TCF25 transcription factor 25 IAGP ClinVar Annotator: match by term: Cutaneous malignant melanoma 5 ClinVar PMID:28492532 NCBI chr16:89,873,592...89,911,384
Ensembl chr16:89,873,570...89,913,627
JBrowse link
G TERT telomerase reverse transcriptase IAGP ClinVar Annotator: match by term: Cutaneous malignant melanoma 9 ClinVar
OMIM
PMID:23348503 NCBI chr 5:1,253,167...1,295,068
Ensembl chr 5:1,253,147...1,295,068
Ensembl chr 5:1,253,147...1,295,068
JBrowse link
G TSPAN31 tetraspanin 31 IAGP ClinVar Annotator: match by term: Cutaneous Malignant Melanoma, Dominant
ClinVar Annotator: match by term: Hereditary cutaneous melanoma
ClinVar Annotator: match by term: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 3
ClinVar Annotator: match by term: Cutaneous malignant melanoma 5
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 chr12:57,745,039...57,750,219
Ensembl chr12:57,738,013...57,750,219
JBrowse link
G TYR tyrosinase IAGP ClinVar Annotator: match by term: MELANOMA AND RENAL CELL CARCINOMA, SUSCEPTIBILITY TO ClinVar PMID:666627, PMID:1429711, PMID:1820207, PMID:7704033, PMID:9158138, 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 chr11:89,177,565...89,295,759
Ensembl chr11:89,177,875...89,295,759
JBrowse link
G XRCC3 X-ray repair cross complementing 3 IAGP ClinVar Annotator: match by term: Cutaneous malignant melanoma 6 ClinVar
OMIM
PMID:11059748 NCBI chr14:103,697,611...103,715,486
Ensembl chr14:103,697,609...103,715,504
JBrowse link
Fanconi-like syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SLX1A SLX1 homolog A, structure-specific endonuclease subunit ISS OMIM:227850 MouseDO NCBI chr16:30,193,843...30,197,566
Ensembl chr16:30,193,887...30,197,561
Ensembl chr16:30,193,887...30,197,561
JBrowse link
G SLX4 SLX4 structure-specific endonuclease subunit ISS OMIM:227850 MouseDO NCBI chr16:3,579,653...3,611,639
Ensembl chr16:3,581,181...3,611,606
JBrowse link
Ferguson-Smith tumor term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TGFBR1 transforming growth factor beta receptor 1 susceptibility IAGP
EXP
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 9:99,104,038...99,154,192
Ensembl chr 9:99,104,038...99,154,192
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 subunit alpha EXP CTD Direct Evidence: marker/mechanism CTD PMID:15341671 NCBI chr14:61,695,513...61,748,259
Ensembl chr14:61,695,513...61,748,259
JBrowse link
G NDRG1 N-myc downstream regulated 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:15341671 NCBI chr 8:133,237,175...133,297,252
Ensembl chr 8:133,237,175...133,302,022
Ensembl chr 8:133,237,175...133,302,022
JBrowse link
Hereditary Leiomyomatosis and Renal Cell Cancer term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CHML CHM like Rab escort protein IAGP ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer ClinVar PMID:29909963 NCBI chr 1:241,628,851...241,640,369
Ensembl chr 1:241,628,853...241,640,254
JBrowse link
G CHRM3 cholinergic receptor muscarinic 3 IAGP ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer ClinVar PMID:29909963 NCBI chr 1:239,386,565...239,915,450
Ensembl chr 1:239,386,565...239,915,452
JBrowse link
G EXO1 exonuclease 1 IAGP ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer ClinVar PMID:29909963 NCBI chr 1:241,847,967...241,889,939
Ensembl chr 1:241,847,967...241,895,148
JBrowse link
G FH fumarate hydratase IAGP
EXP
DNA:mutations:multiple (human)
ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer
ClinVar Annotator: match by term: Leiomyoma, multiple cutaneous
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 1:241,497,603...241,519,755
Ensembl chr 1:241,497,603...241,519,761
Ensembl chr 1:241,497,603...241,519,761
JBrowse link
G FMN2 formin 2 IAGP ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer ClinVar PMID:29909963 NCBI chr 1:240,091,883...240,475,187
Ensembl chr 1:240,014,348...240,475,187
JBrowse link
G GREM2 gremlin 2, DAN family BMP antagonist IAGP ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer ClinVar PMID:29909963 NCBI chr 1:240,489,573...240,612,372
Ensembl chr 1:240,489,573...240,612,155
JBrowse link
G KMO kynurenine 3-monooxygenase IAGP ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer ClinVar PMID:29909963 NCBI chr 1:241,531,883...241,595,642
Ensembl chr 1:241,532,134...241,595,642
JBrowse link
G MAP1LC3C microtubule associated protein 1 light chain 3 gamma IAGP ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer ClinVar PMID:29909963 NCBI chr 1:241,995,194...242,001,393
Ensembl chr 1:241,995,490...241,999,098
JBrowse link
G OPN3 opsin 3 IAGP ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer ClinVar PMID:29909963 NCBI chr 1:241,593,124...241,640,369
Ensembl chr 1:241,590,102...241,677,376
JBrowse link
G PLD5 phospholipase D family member 5 IAGP ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer ClinVar PMID:29909963 NCBI chr 1:242,082,986...242,530,546
Ensembl chr 1:242,082,986...242,524,697
Ensembl chr 1:242,082,986...242,524,697
JBrowse link
G RGS7 regulator of G protein signaling 7 IAGP ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer ClinVar PMID:29909963 NCBI chr 1:240,774,742...241,357,230
Ensembl chr 1:240,775,514...241,357,230
Ensembl chr 1:240,775,514...241,357,230
JBrowse link
G RYR2 ryanodine receptor 2 IAGP ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer ClinVar PMID:29909963 NCBI chr 1:237,042,184...237,833,988
Ensembl chr 1:237,042,184...237,833,988
JBrowse link
G WDR64 WD repeat domain 64 IAGP ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer ClinVar PMID:29909963 NCBI chr 1:241,652,278...241,802,777
Ensembl chr 1:241,652,278...241,802,133
JBrowse link
G ZP4 zona pellucida glycoprotein 4 IAGP ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer ClinVar PMID:29909963 NCBI chr 1:237,882,404...237,890,922
Ensembl chr 1:237,877,864...237,890,922
JBrowse link
large congenital melanocytic nevus term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HRAS HRas proto-oncogene, GTPase IAGP 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 chr11:532,242...535,576
Ensembl chr11:532,242...537,287
JBrowse link
G LRRC56 leucine rich repeat containing 56 IAGP 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 chr11:518,967...554,916
Ensembl chr11:537,527...554,912
JBrowse link
G NRAS NRAS proto-oncogene, GTPase IAGP ClinVar Annotator: match by term: MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC
ClinVar Annotator: match by term: Giant pigmented hairy nevus
ClinVar
OMIM
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 1:114,704,469...114,716,771
Ensembl chr 1:114,704,469...114,716,771
JBrowse link
leiomyoma cutis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FH fumarate hydratase IAGP 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 1:241,497,603...241,519,755
Ensembl chr 1:241,497,603...241,519,761
Ensembl chr 1:241,497,603...241,519,761
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 IAGP ClinVar Annotator: match by term: malignant granular cell tumor ClinVar NCBI chr16:50,315,957...50,368,988
Ensembl chr16:50,313,487...50,368,988
Ensembl chr16:50,313,487...50,368,988
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 IEP mRNA:decreased expression:skin (human) RGD PMID:28359267 RGD:38500206 NCBI chr 4:1,793,293...1,808,872
Ensembl chr 4:1,793,293...1,808,872
JBrowse link
G MYC MYC proto-oncogene, bHLH transcription factor EXP CTD Direct Evidence: marker/mechanism CTD PMID:25277525 NCBI chr 8:127,735,434...127,742,951
Ensembl chr 8:127,735,434...127,742,951
JBrowse link
G SPA17 sperm autoantigenic protein 17 IEP mRNA,protein:increased expression:nucleus RGD PMID:31218705 RGD:27226803 NCBI chr11:124,673,904...124,697,518
Ensembl chr11:124,673,844...124,697,518
Ensembl chr11:124,673,844...124,697,518
JBrowse link
Muir-Torre syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FHIT fragile histidine triad diadenosine triphosphatase ISS OMIM:158320 MouseDO NCBI chr 3:59,747,277...61,251,452
Ensembl chr 3:59,747,277...61,251,459
JBrowse link
G MLH1 mutL homolog 1 IAGP ClinVar Annotator: match by term: Muir-Torré syndrome
ClinVar Annotator: match by term: Cutaneous sebaceous neoplasms and keratoacanthomas multiple with gastrointestinal and other carcinomas
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 3:36,993,487...37,050,846
Ensembl chr 3:36,993,350...37,050,846
Ensembl chr 3:36,993,350...37,050,846
JBrowse link
G MSH2 mutS homolog 2 IAGP ClinVar Annotator: match by term: Muir-Torré syndrome
ClinVar Annotator: match by term: Cutaneous sebaceous neoplasms and keratoacanthomas multiple with gastrointestinal and other carcinomas
ClinVar
OMIM
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 chr 2:47,403,067...47,634,501
Ensembl chr 2:47,403,067...47,663,146
Ensembl chr 2:47,403,067...47,663,146
JBrowse link
Multiple Self-healing Palmoplantar Carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NLRP1 NLR family pyrin domain containing 1 IAGP ClinVar Annotator: match by term: Palmoplantar carcinoma, multiple self-healing ClinVar
OMIM
PMID:17377159, PMID:23349227, PMID:25050600, PMID:25741868, PMID:27662089 NCBI chr17:5,501,396...5,584,509
Ensembl chr17:5,499,427...5,619,424
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 IAGP ClinVar Annotator: match by term: Nasopalpebral lipoma coloboma syndrome ClinVar PMID:23636874, PMID:27139419 NCBI chr 2:206,273,572...206,314,427
Ensembl chr 2:206,274,663...206,314,427
JBrowse link
neurilemmomatosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LZTR1 leucine zipper like transcription regulator 1 susceptibility IAGP
EXP
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 chr22:20,982,297...20,999,032
Ensembl chr22:20,982,269...20,999,032
JBrowse link
G NF2 neurofibromin 2 IAGP ClinVar Annotator: match by term: Schwannomatosis, somatic
ClinVar Annotator: match by term: Schwannomatosis 1
ClinVar
OMIM
PMID:7798645, PMID:9399891, PMID:25741868 NCBI chr22:29,603,556...29,698,600
Ensembl chr22:29,603,556...29,698,598
JBrowse link
G SMARCB1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 IAGP
EXP
ClinVar Annotator: match by term: Schwannomatosis 1
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Schwannomatosis 1, somatic
ClinVar
CTD
OMIM
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 chr22:23,786,966...23,838,009
Ensembl chr22:23,786,931...23,838,008
Ensembl chr22:23,786,931...23,838,008
JBrowse link
nevoid basal cell carcinoma syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AOPEP aminopeptidase O (putative) IAGP ClinVar Annotator: match by term: Gorlin syndrome ClinVar PMID:17703323, PMID:22382802, PMID:28492532 NCBI chr 9:94,726,669...95,148,264
Ensembl chr 9:94,726,701...95,087,218
JBrowse link
G FANCC FA complementation group C IAGP ClinVar Annotator: match by term: Gorlin syndrome ClinVar PMID:17703323, PMID:22382802, PMID:28492532 NCBI chr 9:95,099,054...95,317,730
Ensembl chr 9:95,099,054...95,426,796
JBrowse link
G GLI1 GLI family zinc finger 1 IEP RGD PMID:15308259 RGD:12801443 NCBI chr12:57,459,785...57,472,451
Ensembl chr12:57,459,785...57,472,268
JBrowse link
G GLI2 GLI family zinc finger 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:16936257 NCBI chr 2:120,735,868...120,992,653
Ensembl chr 2:120,735,623...120,992,653
JBrowse link
G LOC100507346 uncharacterized LOC100507346 IAGP ClinVar Annotator: match by term: Gorlin syndrome ClinVar PMID:8658145, PMID:8981943, PMID:11941477, PMID:12204003, PMID:16088933, PMID:16301862, PMID:16419085, PMID:17096318, PMID:17703323, PMID:18502968, PMID:20301330, PMID:20485063, PMID:22313357, PMID:22382802, PMID:22703879, PMID:22952776, PMID:22995991, PMID:23951062, PMID:24204797, PMID:24728327, PMID:24814739, PMID:25131638, PMID:25637381, PMID:25741868, PMID:26544948, PMID:27561271, PMID:28342698, PMID:28492532, PMID:28873162, PMID:29575684 NCBI chr 9:95,463,609...95,470,019 JBrowse link
G LOC110121043 VISTA enhancer hs1258 IAGP ClinVar Annotator: match by term: Gorlin syndrome ClinVar PMID:17703323, PMID:22382802, PMID:28492532 NCBI chr 9:95,495,577...95,497,123 JBrowse link
G PTCH1 patched 1 IAGP
EXP
ISO
IEP
DNA:mutations:exon, intron:multiple
ClinVar Annotator: match by term: Gorlin syndrome
ClinVar Annotator: match by term: Fifth Phacomatosis
ClinVar Annotator: match by term: Basal cell nevus syndrome
CTD Direct Evidence: marker/mechanism
DNA: splice-site mutation :exon
DNA: nonsense mutation:exon:p.W399* (human)
DNA:missense mutation:exon:p.E237EK (897G>A) (human)
ClinVar
CTD
OMIM
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:12925203, PMID:23897749, PMID:19557015, PMID:15308259, PMID:21514272 RGD:12798568, RGD:13207424, RGD:13207421, RGD:12801443, RGD:12801422 NCBI chr 9:95,442,980...95,516,971
Ensembl chr 9:95,442,980...95,517,057
JBrowse link
G PTCH2 patched 2 IAGP ClinVar Annotator: match by term: Gorlin syndrome ClinVar
OMIM
PMID:18285427, PMID:25741868, PMID:28492532 NCBI chr 1:44,819,845...44,843,253
Ensembl chr 1:44,819,844...44,843,253
JBrowse link
G PTH parathyroid hormone EXP CTD Direct Evidence: marker/mechanism CTD PMID:24803734 NCBI chr11:13,492,054...13,496,181
Ensembl chr11:13,492,054...13,496,181
JBrowse link
G SHH sonic hedgehog signaling molecule ISO RGD PMID:9115210 RGD:12802345 NCBI chr 7:155,799,980...155,812,463
Ensembl chr 7:155,799,980...155,812,463
JBrowse link
G SMO smoothened, frizzled class receptor IEP RGD PMID:15308259 RGD:12801443 NCBI chr 7:129,188,633...129,213,548
Ensembl chr 7:129,188,633...129,213,545
JBrowse link
G SUFU SUFU negative regulator of hedgehog signaling IAGP ClinVar Annotator: match by term: Gorlin syndrome ClinVar
OMIM
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 chr10:102,502,801...102,633,535
Ensembl chr10:102,503,987...102,633,535
Ensembl chr10:102,503,987...102,633,535
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 IAGP 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 1:37,611,350...37,634,906
Ensembl chr 1:37,611,350...37,634,892
JBrowse link
pilomatrixoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CTNNB1 catenin beta 1 IAGP ClinVar Annotator: match by term: Pilomatrixoma ClinVar
OMIM
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 3:41,199,422...41,240,445
Ensembl chr 3:41,194,741...41,260,096
JBrowse link
G MUTYH mutY DNA glycosylase IAGP 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 1:45,329,242...45,340,447
Ensembl chr 1:45,329,163...45,340,893
JBrowse link
G OVOL1 ovo like transcriptional repressor 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:26873447 NCBI chr11:65,787,063...65,797,219
Ensembl chr11:65,787,063...65,797,214
JBrowse link
G OVOL2 ovo like zinc finger 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:26873447 NCBI chr20:18,024,152...18,059,188
Ensembl chr20:17,956,979...18,059,188
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 IAGP ClinVar Annotator: match by term: Familial pulmonary capillary hemangiomatosis
ClinVar Annotator: match by term: Pulmonary venoocclusive disease 2, autosomal recessive
ClinVar
OMIM
PMID:24033266, PMID:24135949, PMID:24292273, PMID:25512148, PMID:26387786, PMID:32581362 NCBI chr15:39,934,115...40,035,591
Ensembl chr15:39,934,115...40,035,591
JBrowse link
Schopf-Schulz-Passarge syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G WNT10A Wnt family member 10A IAGP ClinVar Annotator: match by term: KERATOSIS PALMOPLANTARIS WITH CYSTIC EYELIDS, HYPODONTIA, AND HYPOTRICHOSIS
ClinVar Annotator: match by term: Schopf-Schulz-Passarge syndrome
ClinVar
OMIM
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 2:218,874,116...218,893,931
Ensembl chr 2:218,880,852...218,899,581
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 IAGP 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 4:94,207,608...94,291,292
Ensembl chr 4:94,207,611...94,291,292
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 IEP RGD PMID:12354803 RGD:8662839 NCBI chr 6:36,676,463...36,687,332
Ensembl chr 6:36,676,460...36,687,339
Ensembl chr 6:36,676,460...36,687,339
JBrowse link
G LEF1 lymphoid enhancer binding factor 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:16565724 NCBI chr 4:108,047,548...108,168,932
Ensembl chr 4:108,047,545...108,168,956
JBrowse link
seborrheic keratosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANXA1 annexin A1 IEP RGD PMID:8919037 RGD:7421562 NCBI chr 9:73,151,865...73,170,393
Ensembl chr 9:73,151,865...73,170,393
JBrowse link
G FGFR3 fibroblast growth factor receptor 3 IAGP 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 4:1,793,293...1,808,872
Ensembl chr 4:1,793,293...1,808,872
JBrowse link
G PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha IAGP ClinVar Annotator: match by term: Keratosis, seborrheic
ClinVar Annotator: match by term: Seborrheic keratosis
ClinVar
OMIM
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 3:179,148,114...179,240,093
Ensembl chr 3:179,148,114...179,240,093
JBrowse link
skin benign neoplasm term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HRAS HRas proto-oncogene, GTPase IAGP associated with Nevus, Sebaceous of Jadassohn;DNA:mutation:cds:c.37G>C(p.G13R)(human) RGD PMID:22683711 RGD:11098548 NCBI chr11:532,242...535,576
Ensembl chr11:532,242...537,287
JBrowse link
G PTCH1 patched 1 IAGP ClinVar Annotator: match by term: Tumor of the skin ClinVar PMID:30311386 NCBI chr 9:95,442,980...95,516,971
Ensembl chr 9:95,442,980...95,517,057
JBrowse link
skin cancer term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANXA7 annexin A7 IEP protein:decreased expression:skin RGD PMID:17708571 RGD:2292654 NCBI chr10:73,375,101...73,414,058
Ensembl chr10:73,375,101...73,414,076
JBrowse link
G CHUK component of inhibitor of nuclear factor kappa B kinase complex ISO RGD PMID:21755017 RGD:13504775 NCBI chr10:100,188,300...100,229,610
Ensembl chr10:100,188,300...100,229,596
JBrowse link
G CRKL CRK like proto-oncogene, adaptor protein IEP RGD PMID:16391854 RGD:7488899 NCBI chr22:20,917,407...20,953,747
Ensembl chr22:20,917,407...20,953,747
JBrowse link
G PTCH1 patched 1 IAGP ClinVar Annotator: match by term: Skin cancer ClinVar PMID:30311386 NCBI chr 9:95,442,980...95,516,971
Ensembl chr 9:95,442,980...95,517,057
JBrowse link
G SNAI1 snail family transcriptional repressor 1 ISS MouseDO NCBI chr20:49,982,980...49,988,886
Ensembl chr20:49,982,980...49,988,886
JBrowse link
G SRSF6 serine and arginine rich splicing factor 6 IEP protein:increased expression:skin (human) RGD PMID:24440982 RGD:11039481 NCBI chr20:43,457,893...43,464,243
Ensembl chr20:43,457,893...43,466,046
JBrowse link
skin melanoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AGT angiotensinogen IEP protein:increased expression:serum RGD PMID:19394758 RGD:8548874 NCBI chr 1:230,702,523...230,745,583
Ensembl chr 1:230,702,523...230,714,122
JBrowse link
G AKT1 AKT serine/threonine kinase 1 IAGP 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 chr14:104,769,349...104,795,748
Ensembl chr14:104,769,349...104,795,751
JBrowse link
G ARAF A-Raf proto-oncogene, serine/threonine kinase IAGP ClinVar Annotator: match by term: Malignant melanoma of skin ClinVar PMID:24569458, PMID:26619011 NCBI chr  X:47,561,205...47,571,908
Ensembl chr  X:47,561,100...47,571,920
JBrowse link
G B2M beta-2-microglobulin IAGP ClinVar Annotator: match by term: Malignant melanoma of skin ClinVar PMID:26619011 NCBI chr15:44,711,492...44,718,145
Ensembl chr15:44,711,487...44,718,877
JBrowse link
G BAP1 BRCA1 associated protein 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:25231345, PMID:26719535 NCBI chr 3:52,401,004...52,410,030
Ensembl chr 3:52,401,008...52,410,008
JBrowse link
G BCL2L12 BCL2 like 12 IAGP ClinVar Annotator: match by term: Malignant melanoma of skin ClinVar PMID:26619011 NCBI chr19:49,664,834...49,673,916
Ensembl chr19:49,665,142...49,673,916
JBrowse link
G BRAF B-Raf proto-oncogene, serine/threonine kinase IAGP 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 7:140,713,328...140,924,929
Ensembl chr 7:140,719,327...140,924,929
Ensembl chr 7:140,719,327...140,924,929
JBrowse link
G BRCA2 BRCA2 DNA repair associated disease_progression IAGP DNA:SNP: :rs206118, rs3752447, rs10492396 (human) RGD PMID:25243787 RGD:11344896 NCBI chr13:32,315,508...32,400,268
Ensembl chr13:32,315,086...32,400,268
Ensembl chr13:32,315,086...32,400,268
JBrowse link
G CCL2 C-C motif chemokine ligand 2 disease_progression IAGP DNA:SNP: :2578A>G (human) RGD PMID:17169533 RGD:9491398 NCBI chr17:34,255,285...34,257,203
Ensembl chr17:34,255,218...34,257,203
JBrowse link
G CD40 CD40 molecule disease_progression IEP RGD PMID:8952530 RGD:8547772 NCBI chr20:46,118,242...46,129,858
Ensembl chr20:46,118,278...46,129,863
JBrowse link
G CDK4 cyclin dependent kinase 4 IAGP 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 chr12:57,747,727...57,752,310
Ensembl chr12:57,747,727...57,756,013
JBrowse link
G CDKN2A cyclin dependent kinase inhibitor 2A IAGP
EXP
DNA:frameshift mutations, deletions:cds:multiple (human)
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 9:21,967,752...21,995,324
Ensembl chr 9:21,967,753...21,995,301
JBrowse link
G CHAF1B chromatin assembly factor 1 subunit B severity IEP protein:increased expression:skin: RGD PMID:20178651 RGD:9587476 NCBI chr21:36,380,145...36,419,015
Ensembl chr21:36,385,392...36,419,015
JBrowse link
G CNOT9 CCR4-NOT transcription complex subunit 9 IAGP ClinVar Annotator: match by term: Malignant melanoma of skin ClinVar PMID:26619011 NCBI chr 2:218,568,578...218,597,080
Ensembl chr 2:218,568,580...218,597,080
JBrowse link
G CNR1 cannabinoid receptor 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:28131817 NCBI chr 6:88,139,864...88,167,349
Ensembl chr 6:88,139,864...88,166,359
JBrowse link
G CREB1 cAMP responsive element binding protein 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:29179997 NCBI chr 2:207,529,943...207,605,988
Ensembl chr 2:207,529,737...207,605,988
JBrowse link
G CREBBP CREB binding protein IAGP 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 chr16:3,725,054...3,880,727
Ensembl chr16:3,725,054...3,880,713
Ensembl chr16:3,725,054...3,880,713
JBrowse link
G CRNKL1 crooked neck pre-mRNA splicing factor 1 IAGP ClinVar Annotator: match by term: Malignant melanoma of skin ClinVar PMID:26619011 NCBI chr20:20,034,368...20,056,046
Ensembl chr20:20,034,368...20,056,046
JBrowse link
G CTNNB1 catenin beta 1 IAGP 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 3:41,199,422...41,240,445
Ensembl chr 3:41,194,741...41,260,096
JBrowse link
G DNMT3B DNA methyltransferase 3 beta disease_progression IEP RGD PMID:21081840 RGD:9589074 NCBI chr20:32,762,385...32,809,356
Ensembl chr20:32,762,385...32,809,356
JBrowse link
G ERBB2 erb-b2 receptor tyrosine kinase 2 IAGP ClinVar Annotator: match by term: Malignant melanoma of skin ClinVar PMID:18413839, PMID:22046346, PMID:23220880, PMID:25157968, PMID:26619011 NCBI chr17:39,688,094...39,728,660
Ensembl chr17:39,687,914...39,730,426
JBrowse link
G ERBB4 erb-b2 receptor tyrosine kinase 4 IAGP ClinVar Annotator: match by term: Cutaneous melanoma ClinVar PMID:19718025 NCBI chr 2:211,375,717...212,538,802
Ensembl chr 2:211,375,717...212,538,841
JBrowse link
G EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit IAGP ClinVar Annotator: match by term: Malignant melanoma of skin ClinVar PMID:23023262, PMID:24563539, PMID:26619011 NCBI chr 7:148,807,374...148,884,344
Ensembl chr 7:148,807,383...148,884,321
JBrowse link
G FANCA FA complementation group A disease_progression IAGP DNA:SNP: :rs62068372 (human) RGD PMID:25243787 RGD:11344896 NCBI chr16:89,737,549...89,816,647
Ensembl chr16:89,737,549...89,816,657
JBrowse link
G FANCD2 FA complementation group D2 IEP mRNA,protein:increased expression:skin,nucleus: RGD PMID:21697891 RGD:11046262 NCBI chr 3:10,026,437...10,101,932
Ensembl chr 3:10,026,414...10,101,932
Ensembl chr 3:10,026,414...10,101,932
JBrowse link
G FBXW7 F-box and WD repeat domain containing 7 IAGP ClinVar Annotator: match by term: Malignant melanoma of skin ClinVar PMID:25741868, PMID:26619011 NCBI chr 4:152,320,544...152,536,873
Ensembl chr 4:152,320,544...152,536,092
JBrowse link
G GNA11 G protein subunit alpha 11 IAGP 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 chr19:3,094,362...3,123,999
Ensembl chr19:3,094,362...3,123,999
JBrowse link
G GNAQ G protein subunit alpha q IAGP 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 chr 9:77,716,097...78,031,811
Ensembl chr 9:77,716,097...78,031,811
JBrowse link
G GNAS GNAS complex locus IAGP 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 chr20:58,839,681...58,911,192
Ensembl chr20:58,839,718...58,911,192
JBrowse link
G GRM1 glutamate metabotropic receptor 1 ISS OMIM:155601 | OMIM:608035 | OMIM:609048 | OMIM:612263 | OMIM:613099 | OMIM:613972 | OMIM:614456 | OMIM:615134 | OMIM:615848 MouseDO NCBI chr 6:146,027,634...146,437,601
Ensembl chr 6:146,027,646...146,437,601
JBrowse link
G GSTM1 glutathione S-transferase mu 1 susceptibility IAGP DNA:deletion:: (human) RGD PMID:11352862 RGD:12792221 NCBI chr 1:109,687,817...109,693,745
Ensembl chr 1:109,687,814...109,709,039
JBrowse link
G GSTT1 glutathione S-transferase theta 1 susceptibility IAGP DNA:deletion:: (human) RGD PMID:11352862 RGD:12792221
G HIF1A hypoxia inducible factor 1 subunit alpha IEP protein:increased expression:epidermis (human) RGD PMID:19558170 RGD:8695922 NCBI chr14:61,695,513...61,748,259
Ensembl chr14:61,695,513...61,748,259
JBrowse link
G HRAS HRas proto-oncogene, GTPase IAGP 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 chr11:532,242...535,576
Ensembl chr11:532,242...537,287
JBrowse link
G ICAM1 intercellular adhesion molecule 1 disease_progression IAGP DNA:missense mutation:exon:p.R241G (human) RGD PMID:16313300 RGD:8547698 NCBI chr19:10,271,120...10,286,615
Ensembl chr19:10,271,093...10,286,615
JBrowse link
G IDH1 isocitrate dehydrogenase (NADP(+)) 1 IAGP ClinVar Annotator: match by term: Malignant melanoma of skin ClinVar PMID: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 2:208,236,227...208,255,071
Ensembl chr 2:208,236,229...208,266,074
Ensembl chr 2:208,236,229...208,266,074
JBrowse link
G JMJD6 jumonji domain containing 6, arginine demethylase and lysine hydroxylase EXP CTD Direct Evidence: marker/mechanism CTD PMID:30619488 NCBI chr17:76,712,830...76,726,783
Ensembl chr17:76,712,832...76,726,799
JBrowse link
G KIT KIT proto-oncogene, receptor tyrosine kinase IAGP 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 4:54,657,957...54,740,715
Ensembl chr 4:54,657,918...54,740,715
JBrowse link
G KNSTRN kinetochore localized astrin (SPAG5) binding protein IAGP ClinVar Annotator: match by term: Malignant melanoma of skin ClinVar PMID:26619011 NCBI chr15:40,382,721...40,394,288
Ensembl chr15:40,382,721...40,394,246
JBrowse link
G KRAS KRAS proto-oncogene, GTPase IAGP 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 chr12:25,205,246...25,250,929
Ensembl chr12:25,205,246...25,250,936
JBrowse link
G LRRC56 leucine rich repeat containing 56 IAGP 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 chr11:518,967...554,916
Ensembl chr11:537,527...554,912
JBrowse link
G MAP2K1 mitogen-activated protein kinase kinase 1 IAGP 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 chr15:66,386,912...66,491,544
Ensembl chr15:66,386,817...66,492,312
Ensembl chr15:66,386,817...66,492,312
JBrowse link
G MAP2K2 mitogen-activated protein kinase kinase 2 IAGP 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 chr19:4,090,321...4,124,184
Ensembl chr19:4,090,321...4,124,129
Ensembl chr19:4,090,321...4,124,129
JBrowse link
G MITF melanocyte inducing transcription factor EXP CTD Direct Evidence: marker/mechanism CTD PMID:22080950 NCBI chr 3:69,739,464...69,968,332
Ensembl chr 3:69,739,464...69,968,336
Ensembl chr 3:69,739,464...69,968,336
JBrowse link
G MMP1 matrix metallopeptidase 1 disease_progression IAGP DNA:polymorphisms, haplotypes:promoter:multiple
DNA:SNPs, haplotype:promoter:multiple
RGD PMID:20655738, PMID:22198560 RGD:8549726, RGD:8549727 NCBI chr11:102,789,919...102,798,160
Ensembl chr11:102,789,919...102,798,160
JBrowse link
G MMP2 matrix metallopeptidase 2 severity IEP mRNA:increased expression:skin RGD PMID:20966734, PMID:12404291, PMID:18251742 RGD:8657055, RGD:13204786, RGD:8657075 NCBI chr16:55,478,830...55,506,691
Ensembl chr16:55,389,700...55,506,691
JBrowse link
G MMP9 matrix metallopeptidase 9 disease progression IAGP
IEP
DNA:SNP, missense mutations:promoter, cds:-1562C>T,p.R279Q, p.P574R (human) RGD PMID:17346338, PMID:12404291 RGD:8547886, RGD:13204786 NCBI chr20:46,008,908...46,016,561
Ensembl chr20:46,008,908...46,016,561
JBrowse link
G MTOR mechanistic target of rapamycin kinase IAGP ClinVar Annotator: match by term: Malignant melanoma of skin ClinVar PMID:24631838, PMID:26018084, PMID:26619011, PMID:27159400, PMID:27830187 NCBI chr 1:11,106,535...11,273,497
Ensembl chr 1:11,106,535...11,262,551
JBrowse link
G MYC MYC proto-oncogene, bHLH transcription factor IAGP ClinVar Annotator: match by term: Malignant melanoma of skin ClinVar PMID:25157968, PMID:26619011 NCBI chr 8:127,735,434...127,742,951
Ensembl chr 8:127,735,434...127,742,951
JBrowse link
G NRAS NRAS proto-oncogene, GTPase IAGP 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 1:114,704,469...114,716,771
Ensembl chr 1:114,704,469...114,716,771
JBrowse link
G OCA2 OCA2 melanosomal transmembrane protein susceptibility IAGP DNA:snp:cds:p.R419Q (rs1800407) (human)
DNA:missense mutation:cds:p.H615R (rs1800414) (human)
DNA:snps:exon, intron:multiple (human)
RGD PMID:19710684, PMID:24617981, PMID:15889046 RGD:9491818, RGD:9491831, RGD:9491829 NCBI chr15:27,719,008...28,099,342
Ensembl chr15:27,754,875...28,099,315
JBrowse link
G PDGFRA platelet derived growth factor receptor alpha IAGP ClinVar Annotator: match by term: Cutaneous melanoma ClinVar PMID:24132921 NCBI chr 4:54,229,127...54,298,245
Ensembl chr 4:54,229,280...54,298,245
JBrowse link
G PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha IAGP ClinVar Annotator: match by term: Cutaneous melanoma
ClinVar Annotator: match by term: Malignant melanoma of skin
ClinVar 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 3:179,148,114...179,240,093
Ensembl chr 3:179,148,114...179,240,093
JBrowse link
G PIK3R1 phosphoinositide-3-kinase regulatory subunit 1 IAGP ClinVar Annotator: match by term: Malignant melanoma of skin ClinVar PMID:19962457, PMID:25157968, PMID:26619011 NCBI chr 5:68,215,737...68,301,821
Ensembl chr 5:68,215,756...68,301,821
JBrowse link
G PPP6C protein phosphatase 6 catalytic subunit IAGP ClinVar Annotator: match by term: Malignant melanoma of skin ClinVar PMID:26619011 NCBI chr 9:125,146,573...125,189,803
Ensembl chr 9:125,146,573...125,189,939
JBrowse link
G PTEN phosphatase and tensin homolog IAGP 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 chr10:87,863,625...87,971,930
Ensembl chr10:87,863,625...87,971,930
JBrowse link
G RAC1 Rac family small GTPase 1 IAGP ClinVar Annotator: match by term: Cutaneous melanoma
ClinVar Annotator: match by term: Malignant melanoma of skin
ClinVar PMID:25056119, PMID:26619011 NCBI chr 7:6,374,527...6,403,967
Ensembl chr 7:6,374,527...6,403,967
JBrowse link
G RAF1 Raf-1 proto-oncogene, serine/threonine kinase IAGP 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 3:12,583,601...12,664,117
Ensembl chr 3:12,583,601...12,664,226
JBrowse link
G SF3B1 splicing factor 3b subunit 1 IAGP ClinVar Annotator: match by term: Malignant melanoma of skin ClinVar PMID:23634996, PMID:26619011 NCBI chr 2:197,389,784...197,435,093
Ensembl chr 2:197,388,515...197,435,091
Ensembl chr 2:197,388,515...197,435,091
JBrowse link
G SF3B2 splicing factor 3b subunit 2 IAGP ClinVar Annotator: match by term: Malignant melanoma of skin ClinVar PMID:26619011 NCBI chr11:66,052,361...66,069,308
Ensembl chr11:66,050,729...66,069,308
JBrowse link
G SLC45A2 solute carrier family 45 member 2 IAGP ClinVar Annotator: match by term: Malignant melanoma of skin ClinVar PMID:15714523, PMID:17044855, PMID:17999355, PMID:18563784, PMID:18683857, PMID:19578363, PMID:28492532 NCBI chr 5:33,944,623...33,984,693
Ensembl chr 5:33,944,623...33,984,693
JBrowse link
G SNAPC5 small nuclear RNA activating complex polypeptide 5 IAGP ClinVar Annotator: match by term: Cutaneous melanoma ClinVar PMID:22197931 NCBI chr15:66,489,748...66,497,762
Ensembl chr15:66,490,135...66,497,780
JBrowse link
G STAT3 signal transducer and activator of transcription 3 disease_progression IEP RGD PMID:21876460 RGD:8694297 NCBI chr17:42,313,324...42,388,502
Ensembl chr17:42,313,324...42,388,482
Ensembl chr17:42,313,324...42,388,482
JBrowse link
G STK11 serine/threonine kinase 11 IAGP ClinVar Annotator: match by term: FAMILIAL ATYPICAL MOLE-MALIGNANT MELANOMA SYNDROME ClinVar PMID:10201537, PMID:10208439, PMID:25157968 NCBI chr19:1,205,778...1,228,431
Ensembl chr19:1,177,558...1,228,431
Ensembl chr19:1,177,558...1,228,431
JBrowse link
G STK19 serine/threonine kinase 19 IAGP ClinVar Annotator: match by term: Malignant melanoma of skin ClinVar PMID:26619011 NCBI chr 6:31,971,175...31,981,446
Ensembl chr 6:31,971,091...31,982,821
JBrowse link
G TP53 tumor protein p53 IAGP ClinVar Annotator: match by term: Malignant melanoma of skin
ClinVar Annotator: match by term: Cutaneous melanoma
ClinVar PMID: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 chr17:7,668,402...7,687,550
Ensembl chr17:7,661,779...7,687,538
Ensembl chr17:7,661,779...7,687,538
JBrowse link
G TYR tyrosinase susceptibility IAGP DNA:missense mutation:cds:p.R402Q(human) RGD PMID:21906913 RGD:8694390 NCBI chr11:89,177,565...89,295,759
Ensembl chr11:89,177,875...89,295,759
JBrowse link
G VDR vitamin D receptor susceptibility
no_association
IAGP DNA:missense mutation, silent mutation: :p,M1T, p.I352 (c.1056T>C) (rs2228570, rs731236) (human)
DNA:SNPs: :multiple
RGD PMID:16990805, PMID:22576141, PMID:19615888 RGD:8157629, RGD:8158075, RGD:8158071 NCBI chr12:47,841,537...47,905,022
Ensembl chr12:47,841,537...47,943,048
JBrowse link
skin papilloma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CCL20 C-C motif chemokine ligand 20 IEP protein:decreased expression:skin RGD PMID:21715145 RGD:7483622 NCBI chr 2:227,813,842...227,817,556
Ensembl chr 2:227,805,739...227,817,564
JBrowse link
G CLU clusterin ISO RGD PMID:11085517 RGD:8746700 NCBI chr 8:27,596,917...27,614,700
Ensembl chr 8:27,596,917...27,614,700
JBrowse link
G NRG1 neuregulin 1 HEP DNA:hypermethylation: RGD PMID:31892232 RGD:39456089 NCBI chr 8:31,639,245...32,774,046
Ensembl chr 8:31,639,222...32,855,666
JBrowse link
G TLR2 toll like receptor 2 IEP protein:increased expression,altered expression:cytoplasm,membrane, nucleus: RGD PMID:24617037 RGD:8553046 NCBI chr 4:153,684,080...153,710,643
Ensembl chr 4:153,684,070...153,706,260
Ensembl chr 4:153,684,070...153,706,260
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 IEP protein:increased expression:foreskin (human) RGD PMID:22548649 RGD:9850272 NCBI chr17:64,498,254...64,506,866
Ensembl chr17:64,498,254...64,508,199
JBrowse link
G FYN FYN proto-oncogene, Src family tyrosine kinase ISS MouseDO NCBI chr 6:111,660,332...111,873,452
Ensembl chr 6:111,660,332...111,873,452
JBrowse link
G KNSTRN kinetochore localized astrin (SPAG5) binding protein IAGP DNA:mutation:cds: p.Ala40Glu (human)
DNA:mutation:cds: p.Ser24Phe(human)
RGD PMID:30972880, PMID:25194279 RGD:28867225, RGD:28867226 NCBI chr15:40,382,721...40,394,288
Ensembl chr15:40,382,721...40,394,246
JBrowse link
Sweat Gland Neoplasms term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TP63 tumor protein p63 EXP CTD Direct Evidence: marker/mechanism CTD PMID:20740144 NCBI chr 3:189,596,746...189,897,276
Ensembl chr 3:189,631,389...189,897,276
JBrowse link
Trichilemmoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HRAS HRas proto-oncogene, GTPase IAGP associated with Nevus sebaceous; DNA:mutation:exon:c.37G>C (p.G13R)(human) RGD PMID:24890286 RGD:12738400 NCBI chr11:532,242...535,576
Ensembl chr11:532,242...537,287
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 IAGP ClinVar Annotator: match by term: Trichoepithelioma multiple familial 2 ClinVar NCBI chr16:50,742,086...50,801,935
Ensembl chr16:50,742,050...50,801,935
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 IAGP ClinVar Annotator: match by term: VON HIPPEL-LINDAU SYNDROME, MODIFIER OF OMIM
ClinVar
PMID:10667569, PMID:11459873, PMID:12097293, PMID:23502783, PMID:24870244 NCBI chr11:69,641,156...69,654,474
Ensembl chr11:69,641,156...69,654,474
Ensembl chr11:69,641,156...69,654,474
JBrowse link
G EPAS1 endothelial PAS domain protein 1 IEP protein:increased expression:kidney: RGD PMID:22299048 RGD:11041600 NCBI chr 2:46,297,407...46,386,697
Ensembl chr 2:46,293,667...46,386,697
JBrowse link
G LOC107303340 3p25 von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase Alu-mediated recombination region IAGP ClinVar Annotator: match by term: Von Hippel-Lindau syndrome ClinVar PMID:982991, PMID:1056348, PMID:7553625, PMID:7563486, PMID:7660122, PMID:7728151, PMID:7784063, PMID:7915601, PMID:7977367, PMID:7987306, PMID:7987327, PMID:8069849, PMID:8187067, 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:9156047, PMID:9398721, PMID:9399847, PMID:9435426, PMID:9452032, PMID:9663592, PMID:9681856, PMID:9770531, PMID:9829911, PMID:9829912, PMID:10088816, PMID:10326868, PMID:10340905, PMID:10364675, PMID:10408776, PMID:10458336, PMID:10563480, PMID:10567493, PMID:10570625, PMID:10581162, PMID:10587522, PMID:10761708, PMID:10766184, PMID:10878807, PMID:10900011, PMID:11058902, PMID:11309459, PMID:11331612, PMID:11331613, PMID:11409863, PMID:11536052, PMID:11865071, PMID:11921283, PMID:11987242, PMID:12000816, PMID:12114495, PMID:12202531, PMID:12393546, PMID:12414898, PMID:12415268, PMID:12510195, PMID:12538644, PMID:12624160, PMID:12702509, PMID:12807974, PMID:12844285, PMID:14500403, PMID:14556007, PMID:14604959, PMID:14722919, PMID:14726398, PMID:14767570, PMID:14973063, PMID:14987375, PMID:15177666, PMID:15300849, PMID:15574766, PMID:15642664, PMID:15642680, PMID:15932632, PMID:16142346, PMID:16210343, PMID:16314641, PMID:16452184, PMID:16488999, PMID:16572651, PMID:16809612, PMID:16969113, PMID:17001110, PMID:17024664, PMID:17060462, PMID:17102069, PMID:17264095, PMID:17350623, PMID:17640059, PMID:17661816, PMID:17967880, PMID:17992257, 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:19270817, PMID:19304954, PMID:19309509, PMID:19336503, PMID:19408298, PMID:19464396, PMID:19494350, PMID:19574279, PMID:19602254, PMID:19763184, PMID:19764026, PMID:19949673, PMID:19958924, PMID:20054297, PMID:20120764, PMID:20151405, PMID:20351605, PMID:20518900, PMID:20560986, PMID:20567917, PMID:20583150, PMID:20660572, PMID:20846682, PMID:20952280, PMID:21362373, PMID:21389259, PMID:21454469, PMID:21606165, PMID:21685897, PMID:21715564, PMID:21876117, PMID:21993671, PMID:22105611, PMID:22105711, PMID:22357542, PMID:22393103, PMID:22517557, PMID:22649785, PMID:22799452, PMID:23015148, PMID:23070752, PMID:23102223, PMID:23298237, PMID:23315997, PMID:23318261, PMID:23403324, PMID:23434161, PMID:23512077, PMID:23606570, PMID:23660872, PMID:23673869, PMID:23772956, PMID:23788753, PMID:23840444, PMID:23842656, PMID:23845641, PMID:23859443, PMID:24033266, PMID:24102379, PMID:24132471, PMID:24206762, PMID:24301059, PMID:24446253, PMID:24466223, PMID:24581539, PMID:24707167, PMID:24728327, PMID:24729484, PMID:24969085, PMID:25078357, PMID:25119015, PMID:25157968, PMID:25371412, PMID:25557216, PMID:25562111, PMID:25563310, PMID:25583177, PMID:25586603, PMID:25637381, PMID:25720320, PMID:25741868, PMID:25867206, PMID:26206375, PMID:26503325, PMID:26580448, PMID:26763786, PMID:26822237, PMID:26845104, PMID:26920352, PMID:27146957, PMID:27439424, PMID:27527340, PMID:27530247, PMID:27539324, PMID:27617348, PMID:28052007, PMID:28202063, PMID:28349240, PMID:28388566, PMID:28469506, PMID:28492532, PMID:28775317, PMID:28944243, PMID:29616089, PMID:29748190, PMID:29749453, PMID:29790589, PMID:29891534, PMID:29949369, PMID:30042107, PMID:30105105, PMID:30338240, PMID:30943211, PMID:31034483, PMID:31149315, PMID:31779674, PMID:32238909 NCBI chr 3:10,142,339...10,160,352 JBrowse link
G MMP3 matrix metallopeptidase 3 onset IAGP RGD PMID:19551141 RGD:7241233 NCBI chr11:102,835,801...102,843,609
Ensembl chr11:102,835,801...102,843,609
JBrowse link
G SLC18A1 solute carrier family 18 member A1 IEP mRNA:increased expression:tumor (human) RGD PMID:16189177 RGD:5131200 NCBI chr 8:20,144,855...20,183,139
Ensembl chr 8:20,144,855...20,183,206
JBrowse link
G VHL von Hippel-Lindau tumor suppressor IAGP
EXP
ClinVar Annotator: match by term: Von Hippel-Lindau syndrome
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
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 3:10,141,778...10,153,667
Ensembl chr 3:10,141,008...10,152,220
Ensembl chr 3:10,141,008...10,152,220
JBrowse link
WHIM syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CXCR4 C-X-C motif chemokine receptor 4 IAGP
EXP
DNA:frame shift, nonsense mutations:cds:1016_1017delCT,p.R334X,E343X(human)
ClinVar Annotator: match by term: Warts, hypogammaglobulinemia, infections, and myelokathexis
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
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 2:136,114,349...136,118,149
Ensembl chr 2:136,114,349...136,118,149
Ensembl chr 2:136,114,349...136,118,149
JBrowse link
G DARS1 aspartyl-tRNA synthetase 1 IAGP ClinVar Annotator: match by term: Warts, hypogammaglobulinemia, infections, and myelokathexis ClinVar PMID:28492532 NCBI chr 2:135,905,881...135,985,684
Ensembl chr 2:135,905,881...135,986,100
JBrowse link
G DARS1-AS1 DARS1 antisense RNA 1 IAGP ClinVar Annotator: match by term: Warts, hypogammaglobulinemia, infections, and myelokathexis ClinVar PMID:28492532 NCBI chr 2:135,985,176...136,007,542
Ensembl chr 2:135,985,176...136,022,593
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18837
    sensory system disease 5717
      skin disease 2900
        Skin Neoplasms 243
          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 14
          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 + 55
          skin cancer + 122
Path 2
Term Annotations click to browse term
  disease 18837
    disease of anatomical entity 17323
      nervous system disease 13417
        sensory system disease 5717
          skin disease 2900
            Skin Neoplasms 243
              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 14
              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 + 55
              skin cancer + 122
paths to the root

NHLBI Logo

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