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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:integumentary system cancer
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Accession:DOID:0060122 term browser browse the term
Definition:An organ system cancer that is located_in the skin, hair and nails. (DO)


show annotations for term's descendants           Sort by:
basal cell carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Asip agouti signaling protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:18488027 NCBI chr 3:143,473,584...143,561,170
Ensembl chr 3:143,555,696...143,561,171 		JBrowse link
G Bap1 Brca1 associated protein 1 ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:26719535 PMID:25080371 RGD:9586038 NCBI chr16:6,446,709...6,455,535
Ensembl chr16:6,446,709...6,455,535 		JBrowse link
G Ccnh cyclin H ISO ClinVar Annotator: match by term: BCC1 | ClinVar Annotator: match by term: Basal cell carcinoma, somatic | ClinVar Annotator: match by term: Basal cell carcinoma, susceptibility to, 1 ClinVar PMID:8275088 PMID:18446851 PMID:24038909 PMID:24274751 PMID:25741868 More... NCBI chr 2:15,835,064...15,855,648
Ensembl chr 2:15,834,833...15,855,819 		JBrowse link
G Clptm1l CLPTM1-like ISO CTD Direct Evidence: marker/mechanism CTD PMID:19151717 NCBI chr 1:29,667,545...29,683,530
Ensembl chr 1:29,667,545...29,683,530 		JBrowse link
G Crnkl1 crooked neck pre-mRNA splicing factor 1 ISO DNA:missense mutation:cds:p.S128F (human) RGD PMID:23774526 RGD:9850250 NCBI chr 3:133,338,593...133,354,329
Ensembl chr 3:133,337,039...133,354,302
Ensembl chr 6:133,337,039...133,354,302 		JBrowse link
G Ctcf CCCTC-binding factor ISO DNA:mutations:multiple (human) RGD PMID:27974201 RGD:151356739 NCBI chr19:33,521,726...33,571,124
Ensembl chr19:33,529,319...33,571,123 		JBrowse link
G Ctla4 cytotoxic T-lymphocyte-associated protein 4 susceptibility ISO DNA:SNP: :rs3087243(human) RGD PMID:19622768 RGD:7411686 NCBI chr 9:62,318,874...62,325,978
Ensembl chr 9:62,319,312...62,324,963 		JBrowse link
G Erbb2 erb-b2 receptor tyrosine kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26950094 NCBI chr10:83,411,197...83,435,078
Ensembl chr10:83,411,313...83,435,078 		JBrowse link
G Fbxw7 F-box and WD repeat domain containing 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26950094 NCBI chr 2:170,149,706...170,311,536
Ensembl chr 2:170,149,694...170,309,941 		JBrowse link
G Gli2 GLI family zinc finger 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10700170 NCBI chr13:29,946,882...30,163,589
Ensembl chr13:29,946,809...30,163,574 		JBrowse link
G Hhip Hedgehog-interacting protein treatment ISO mRNA:increased expression:skin: RGD PMID:15024045 PMID:15024045 RGD:11552592, RGD:11552592 NCBI chr19:27,863,684...27,952,528
Ensembl chr19:27,863,213...27,952,528 		JBrowse link
G Il6 interleukin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22108589 NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178 		JBrowse link
G Krt17 keratin 17 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20871598 NCBI chr10:85,178,673...85,183,392
Ensembl chr10:85,178,675...85,183,392 		JBrowse link
G Krt5 keratin 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19578363 PMID:20871598 NCBI chr 7:132,846,132...132,851,861
Ensembl chr 7:132,846,136...132,851,850 		JBrowse link
G Lats1 large tumor suppressor kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26950094 NCBI chr 1:2,160,411...2,193,640
Ensembl chr 1:2,160,411...2,193,640 		JBrowse link
G Mc1r melanocortin 1 receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:18539553 NCBI chr19:51,452,448...51,455,375
Ensembl chr19:51,453,239...51,454,192 		JBrowse link
G Mycn MYCN proto-oncogene, bHLH transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:26950094 NCBI chr 6:35,717,764...35,723,590
Ensembl chr 6:35,717,764...35,723,590 		JBrowse link
G Oca2 OCA2 melanosomal transmembrane protein susceptibility ISO DNA:snps:intron:IVS1+132A>G (rs7495174), IVS1+8550A>G (rs11855019), IVS1+15605G>A (rs7174027) (human)
DNA:missense mutation:cds:p.R419Q (rs1800407) (human)		 RGD PMID:21270109 PMID:19384953 RGD:9491840, RGD:9491841 NCBI chr 1:107,116,278...107,446,093
Ensembl chr 1:107,116,278...107,446,074 		JBrowse link
G Ogg1 8-oxoguanine DNA glycosylase no_association ISO DNA:missense mutation: :p.S326C (rs1052133)(human) RGD PMID:22436579 PMID:15466987 RGD:8657137, RGD:8657158 NCBI chr 4:146,474,701...146,481,959
Ensembl chr 4:146,474,750...146,484,766 		JBrowse link
G Palb2 partner and localizer of BRCA2 ISO ClinVar Annotator: match by term: Basal cell carcinoma ClinVar PMID:17200668 PMID:17200671 PMID:17200672 PMID:24136930 PMID:25099575 More... NCBI chr 1:176,665,076...176,689,053
Ensembl chr 1:176,665,076...176,688,990 		JBrowse link
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:26950094 NCBI chr 2:115,175,275...115,249,034
Ensembl chr 2:115,174,984...115,249,032 		JBrowse link
G Ppp6c protein phosphatase 6, catalytic subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:26950094 NCBI chr 3:22,929,816...22,962,123
Ensembl chr 3:22,931,577...22,962,113 		JBrowse link
G Ptch1 patched 1 disease_progression ISO
ISS		 ClinVar Annotator: match by term: BCC1 | ClinVar Annotator: match by term: Basal cell carcinoma | ClinVar Annotator: match by term: Basal cell carcinoma, somatic | ClinVar Annotator: match by term: Basal cell carcinoma, susceptibility to, 1 | ClinVar Annotator: match by term: Basal cell carcinoma, susceptibility to, 7 | ClinVar Annotator: match by term: PTCH2-related condition
mRNA:increased expression:skin of body
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
OMIM
CTD
RGD		 PMID:8782823 PMID:8840969 PMID:9581815 PMID:9620294 PMID:11231326 More... RGD:704355, RGD:12801453 NCBI chr17:1,542,705...1,607,730
Ensembl chr17:1,542,877...1,607,333 		JBrowse link
G Ptch2 patched 2 ISO ClinVar Annotator: match by term: Basal cell carcinoma, somatic | ClinVar Annotator: match by term: Basal cell carcinoma, susceptibility to, 1 | ClinVar Annotator: match by term: PTCH2-related condition
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:9931336 PMID:17576681 PMID:25741868 PMID:28492532 More... NCBI chr 5:130,571,956...130,592,506
Ensembl chr 5:130,572,312...130,592,405 		JBrowse link
G Ptpn14 protein tyrosine phosphatase, non-receptor type 14 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26950094 NCBI chr13:101,268,258...101,420,508
Ensembl chr13:101,268,416...101,414,088 		JBrowse link
G Rasa1 RAS p21 protein activator 1 ISO DNA:missense mutations:cds: (human)
ClinVar Annotator: match by term: BCC1 | ClinVar Annotator: match by term: Basal cell carcinoma, somatic | ClinVar Annotator: match by term: Basal cell carcinoma, susceptibility to, 1
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM
RGD		 PMID:8275088 PMID:18446851 PMID:22200646 PMID:23801933 PMID:24038909 More... RGD:737716 NCBI chr 2:15,857,704...15,940,757
Ensembl chr 2:15,857,980...15,940,854 		JBrowse link
G Rb1 RB transcriptional corepressor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26950094 NCBI chr15:48,371,295...48,502,473
Ensembl chr15:48,371,296...48,502,302 		JBrowse link
G Rpe65 retinoid isomerohydrolase RPE65 ISO mRNA:increased expression:skin (human) RGD PMID:16181461 RGD:9495923 NCBI chr 2:248,766,497...248,798,403
Ensembl chr 2:248,766,612...248,798,403 		JBrowse link
G Shh sonic hedgehog signaling molecule ISO DNA, protein:hypermethylation, decreased expression:skin of body RGD PMID:23284750 RGD:12801452 NCBI chr 4:6,954,017...6,963,170
Ensembl chr 4:6,954,017...6,963,170 		JBrowse link
G Slc45a2 solute carrier family 45, member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19578363 NCBI chr 2:59,963,599...59,996,408
Ensembl chr 2:59,963,706...59,996,317 		JBrowse link
G Smo smoothened, frizzled class receptor disease_progression ISO DNA:missense mutations:cds:p.W535L, p.R562Q (human)
ClinVar Annotator: match by term: BCC1 | ClinVar Annotator: match by term: Basal cell carcinoma | ClinVar Annotator: match by term: Basal cell carcinoma, somatic
mRNA:increased expression:skin of body
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD
RGD		 PMID:9422511 PMID:9581815 PMID:19726788 PMID:22679179 PMID:25741868 More... RGD:704355, RGD:12801453 NCBI chr 4:58,343,626...58,373,823
Ensembl chr 4:58,343,529...58,373,829 		JBrowse link
G Stk19 serine/threonine kinase 19 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26950094 NCBI chr20:3,995,590...4,005,117
Ensembl chr20:3,995,587...4,005,116 		JBrowse link
G Sufu SUFU negative regulator of hedgehog signaling ISO CTD Direct Evidence: marker/mechanism CTD PMID:26950094 NCBI chr 1:245,257,725...245,355,576
Ensembl chr 1:245,257,768...245,355,577 		JBrowse link
G Tert telomerase reverse transcriptase ISO CTD Direct Evidence: marker/mechanism CTD PMID:19151717 NCBI chr 1:29,637,213...29,659,561
Ensembl chr 1:29,637,506...29,659,561 		JBrowse link
G Tp53 tumor protein p53 ISO DNA:mutations:cds:
ClinVar Annotator: match by term: Basal cell carcinoma, susceptibility to, 7
ClinVar Annotator: match by term: Basal cell carcinoma, susceptibility to, 1 | ClinVar Annotator: match by term: Basal cell carcinoma, susceptibility to, 7
CTD Direct Evidence: marker/mechanism		 ClinVar
OMIM
CTD
RGD		 PMID:1565143 PMID:1565144 PMID:1591732 PMID:1631137 PMID:1683921 More... RGD:8547844, RGD:8547848 NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524 		JBrowse link
G Tyr tyrosinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:18488027 NCBI chr 1:141,115,036...141,210,207
Ensembl chr 1:141,115,036...141,210,207 		JBrowse link
G Vdr vitamin D receptor ISO DNA:SNPs, haplotype: :rs731236, rs7975232 (human)
mRNA:increased expression:skin		 RGD PMID:22213323 PMID:15077124 RGD:8158063, RGD:8158076 NCBI chr 7:128,987,981...129,037,677
Ensembl chr 7:128,987,981...129,037,677 		JBrowse link
G Xpa XPA, DNA damage recognition and repair factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:17687452 NCBI chr 5:60,431,673...60,475,726
Ensembl chr 5:60,431,673...60,475,726 		JBrowse link
G Xrcc3 X-ray repair cross complementing 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16501254 NCBI chr 6:130,863,405...130,873,765
Ensembl chr 6:130,863,959...130,872,444 		JBrowse link
G Xrcc5 X-ray repair cross complementing 5 ISO protein:increased expression:epidermal cell, basal cell of epidermis (human) RGD PMID:16497868 RGD:8698657 NCBI chr 9:73,955,216...74,044,020
Ensembl chr 9:73,955,216...74,044,018 		JBrowse link
G Xrcc6 X-ray repair cross complementing 6 ISO protein:increased expression:epidermal cell, basal cell of epidermis (human) RGD PMID:16497868 RGD:8698657 NCBI chr 7:113,542,992...113,563,762
Ensembl chr 7:113,543,057...113,563,762 		JBrowse link
basaloid squamous cell carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ptch1 patched 1 ISO DNA:missense mutations, nonsense mutations RGD PMID:25395299 RGD:150523793 NCBI chr17:1,542,705...1,607,730
Ensembl chr17:1,542,877...1,607,333 		JBrowse link
cutaneous Paget's disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha severity ISO DNA:mutations:multiple: RGD PMID:22522847 RGD:14402410 NCBI chr 2:115,175,275...115,249,034
Ensembl chr 2:115,174,984...115,249,032 		JBrowse link
eccrine porocarcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kmt2d lysine methyltransferase 2D ISO ClinVar Annotator: match by term: Eccrine porocarcinoma ClinVar PMID:28492532 NCBI chr 7:129,980,744...130,022,088
Ensembl chr 7:129,962,887...130,020,325 		JBrowse link
G Mre11 MRE11 homolog, double strand break repair nuclease ISO ClinVar Annotator: match by term: Eccrine porocarcinoma ClinVar NCBI chr 8:11,618,876...11,680,451
Ensembl chr 8:11,632,354...11,678,279 		JBrowse link
G Tbx3 T-box transcription factor 3 ISO ClinVar Annotator: match by term: Eccrine porocarcinoma ClinVar NCBI chr12:36,879,924...36,894,849
Ensembl chr12:36,881,445...36,893,708 		JBrowse link
familial melanoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Agap2 ArfGAP with GTPase domain, ankyrin repeat and PH domain 2 ISO ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:28492532 NCBI chr 7:62,897,282...62,914,295
Ensembl chr 7:62,897,282...62,914,295 		JBrowse link
G Arhgap9 Rho GTPase activating protein 9 ISO ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:28492532 NCBI chr 7:63,148,573...63,157,025
Ensembl chr 7:63,148,900...63,157,524 		JBrowse link
G Arhgef25 Rho guanine nucleotide exchange factor 25 ISO ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:28492532 NCBI chr 7:63,005,938...63,013,325
Ensembl chr 7:63,005,940...63,013,719 		JBrowse link
G B4galnt1 beta-1,4-N-acetyl-galactosaminyl transferase 1 ISO ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:28492532 NCBI chr 7:62,988,429...62,996,190
Ensembl chr 7:62,988,930...62,996,190 		JBrowse link
G Bap1 Brca1 associated protein 1 ISO ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 ClinVar PMID:21874000 PMID:23684012 PMID:25741868 PMID:28492532 NCBI chr16:6,446,709...6,455,535
Ensembl chr16:6,446,709...6,455,535 		JBrowse link
G Braf B-Raf proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 1 ClinVar
OMIM		 PMID:2500657 PMID:16439621 PMID:16474404 PMID:17366577 PMID:17551924 More... NCBI chr 4:68,375,484...68,510,652
Ensembl chr 4:68,384,649...68,510,463 		JBrowse link
G Cdk4 cyclin-dependent kinase 4 ISO ClinVar Annotator: match by term: Cutaneous Malignant Melanoma, Dominant | ClinVar Annotator: match by term: Cutaneous malignant melanoma 9 | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: MELANOMA AND RENAL CELL CARCINOMA, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 1 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5
ClinVar Annotator: match by term: Cutaneous Malignant Melanoma, Dominant | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Hereditary cutaneous melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5
ClinVar Annotator: match by term: Cutaneous Malignant Melanoma, Dominant | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 2 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3
ClinVar Annotator: match by term: Cutaneous Malignant Melanoma, Dominant | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3
ClinVar Annotator: match by term: Cutaneous Malignant Melanoma, Dominant | ClinVar Annotator: match by term: Cutaneous malignant melanoma 5 | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5
ClinVar Annotator: match by term: Cutaneous Malignant Melanoma, Dominant | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 2 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5
ClinVar Annotator: match by term: Cutaneous Malignant Melanoma, Dominant | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5		 OMIM
ClinVar		 PMID:5377176 PMID:7652577 PMID:8528263 PMID:8968104 PMID:9228064 More... NCBI chr 7:62,886,124...62,889,562
Ensembl chr 7:62,883,105...62,942,403 		JBrowse link
G Cdkn2a cyclin-dependent kinase inhibitor 2A ISO ClinVar Annotator: match by term: Cutaneous malignant melanoma 5 | ClinVar Annotator: match by term: Cutaneous malignant melanoma 9 | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Hereditary cutaneous melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 1 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 2 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 8
ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Hereditary cutaneous melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 2
ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Hereditary cutaneous melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 1 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 2 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5
ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Hereditary cutaneous melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 2 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5
ClinVar Annotator: match by term: Cutaneous Malignant Melanoma, Dominant | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Hereditary cutaneous melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 2
ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Hereditary cutaneous melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 2 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5
ClinVar Annotator: match by term: Cutaneous malignant melanoma 5 | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Hereditary cutaneous melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 2 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5
ClinVar Annotator: match by term: Cutaneous Malignant Melanoma, Dominant | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Hereditary cutaneous melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 2 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5		 OMIM
ClinVar		 PMID:539244 PMID:649266 PMID:865368 PMID:1038976 PMID:2319082 More... NCBI chr 5:103,984,949...103,992,143
Ensembl chr 5:103,984,949...104,003,149 		JBrowse link
G Cdkn2b cyclin-dependent kinase inhibitor 2B ISO ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:9622062 PMID:28492532 NCBI chr 5:104,009,839...104,019,082
Ensembl chr 5:104,010,680...104,019,050 		JBrowse link
G Cyp27b1 cytochrome P450, family 27, subfamily b, polypeptide 1 ISO ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 ClinVar PMID:28492532 NCBI chr 7:62,869,340...62,876,242
Ensembl chr 7:62,871,297...62,876,241 		JBrowse link
G Dctn2 dynactin subunit 2 ISO ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:28492532 NCBI chr 7:63,092,061...63,107,560
Ensembl chr 7:63,092,057...63,108,543 		JBrowse link
G Ddit3 DNA-damage inducible transcript 3 ISO ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:28492532 NCBI chr 7:63,115,645...63,121,203
Ensembl chr 7:63,116,380...63,121,201 		JBrowse link
G Dnah1 dynein, axonemal, heavy chain 1 ISO ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:21874000 PMID:23684012 PMID:25741868 PMID:28492532 NCBI chr16:6,455,514...6,517,103
Ensembl chr16:6,456,002...6,518,350 		JBrowse link
G Dtx3 deltex E3 ubiquitin ligase 3 ISO ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:28492532 NCBI chr 7:63,013,769...63,018,431
Ensembl chr 7:63,013,371...63,018,522 		JBrowse link
G Eef1akmt3 EEF1A lysine methyltransferase 3 ISO ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:28492532 NCBI chr 7:62,853,304...62,864,558
Ensembl chr 7:62,854,899...62,864,617 		JBrowse link
G Fanca FA complementation group A ISO ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 ClinVar PMID:28492532 NCBI chr19:51,304,126...51,362,586
Ensembl chr19:51,304,021...51,362,527 		JBrowse link
G Gli1 GLI family zinc finger 1 ISO ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:28492532 NCBI chr 7:63,156,926...63,169,579
Ensembl chr 7:63,156,926...63,169,251 		JBrowse link
G Inhbc inhibin subunit beta C ISO ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:28492532 NCBI chr 7:63,184,141...63,197,630
Ensembl chr 7:63,184,142...63,197,630 		JBrowse link
G Inhbe inhibin subunit beta E ISO ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:28492532 NCBI chr 7:63,176,221...63,179,209
Ensembl chr 7:63,176,219...63,179,172 		JBrowse link
G Kif5a kinesin family member 5A ISO ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:28492532 NCBI chr 7:63,051,894...63,089,024
Ensembl chr 7:63,049,424...63,092,858 		JBrowse link
G Klc1 kinesin light chain 1 ISO ClinVar Annotator: match by term: Cutaneous malignant melanoma 6 ClinVar PMID:11059748 PMID:25741868 PMID:28492532 NCBI chr 6:130,823,416...130,866,729
Ensembl chr 6:130,823,419...130,867,031 		JBrowse link
G Lrp1 LDL receptor related protein 1 ISO ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:28492532 NCBI chr 7:63,380,325...63,461,029
Ensembl chr 7:63,380,356...63,460,910 		JBrowse link
G Marchf9 membrane associated ring-CH-type finger 9 ISO ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:28492532 NCBI chr 7:62,879,017...62,882,495
Ensembl chr 7:62,879,018...62,882,495 		JBrowse link
G Mars1 methionyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:28492532 NCBI chr 7:63,121,142...63,138,550
Ensembl chr 7:63,121,142...63,138,495 		JBrowse link
G Mbd6 methyl-CpG binding domain protein 6 ISO ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:28492532 NCBI chr 7:63,107,562...63,115,841
Ensembl chr 7:63,107,562...63,113,274 		JBrowse link
G Mc1r melanocortin 1 receptor ISO ClinVar Annotator: match by term: Cutaneous Malignant Melanoma, Dominant | ClinVar Annotator: match by term: Cutaneous malignant melanoma 5 | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5
ClinVar Annotator: match by term: Cutaneous malignant melanoma 5 | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 2 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5		 OMIM
ClinVar		 PMID:7581459 PMID:8605020 PMID:8894704 PMID:8944016 PMID:8990005 More... NCBI chr19:51,452,448...51,455,375
Ensembl chr19:51,453,239...51,454,192 		JBrowse link
G Mettl1 methyltransferase 1, tRNA methylguanosine ISO ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:28492532 NCBI chr 7:62,864,860...62,869,202
Ensembl chr 7:62,864,853...62,869,202 		JBrowse link
G Mitf melanocyte inducing transcription factor susceptibility ISO ClinVar Annotator: match by term: MELANOMA AND RENAL CELL CARCINOMA, SUSCEPTIBILITY TO
ClinVar Annotator: match by term: MELANOMA AND RENAL CELL CARCINOMA, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 8		 ClinVar
OMIM		 PMID:2440678 PMID:8589691 PMID:8659547 PMID:9536098 PMID:10587587 More... NCBI chr 4:130,409,020...130,621,145
Ensembl chr 4:130,409,217...130,621,145 		JBrowse link
G Ndufa4l2 NDUFA4, mitochondrial complex associated like 2 ISO ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:28492532 NCBI chr 7:63,351,021...63,359,010
Ensembl chr 7:63,356,883...63,359,010 		JBrowse link
G Nxph4 neurexophilin 4 ISO ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:28492532 NCBI chr 7:63,367,758...63,376,579
Ensembl chr 7:63,367,761...63,376,579 		JBrowse link
G Os9 OS9, endoplasmic reticulum lectin ISO ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:28492532 NCBI chr 7:62,915,498...62,957,591
Ensembl chr 7:62,915,515...62,943,745 		JBrowse link
G Pip4k2c phosphatidylinositol-5-phosphate 4-kinase type 2 gamma ISO ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:28492532 NCBI chr 7:63,020,004...63,035,086
Ensembl chr 7:63,020,000...63,035,078 		JBrowse link
G Pot1 protection of telomeres 1 ISO ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5
ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 2 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5
ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 1 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5
ClinVar Annotator: match by term: Cutaneous Malignant Melanoma, Dominant | ClinVar Annotator: match by term: Cutaneous malignant melanoma 5 | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5
ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 2 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 8
ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 2 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 6
ClinVar Annotator: match by term: Cutaneous malignant melanoma 5 | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5		 ClinVar
OMIM
CTD		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:19461895 PMID:19763152 More... NCBI chr 4:54,205,330...54,263,137
Ensembl chr 4:54,205,332...54,263,042 		JBrowse link
G R3hdm2 R3H domain containing 2 ISO ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:28492532 NCBI chr 7:63,212,519...63,340,574
Ensembl chr 7:63,232,346...63,340,540 		JBrowse link
G Shmt2 serine hydroxymethyltransferase 2 ISO ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:28492532 NCBI chr 7:63,358,961...63,364,293
Ensembl chr 7:63,358,961...63,364,236 		JBrowse link
G Spire2 spire-type actin nucleation factor 2 ISO ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 ClinVar PMID:28492532 NCBI chr19:51,373,368...51,411,920
Ensembl chr19:51,373,228...51,411,920 		JBrowse link
G Stac3 SH3 and cysteine rich domain 3 ISO ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:28492532 NCBI chr 7:63,343,078...63,350,590
Ensembl chr 7:63,343,186...63,350,589 		JBrowse link
G Stk11 serine/threonine kinase 11 ISO ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 1 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 ClinVar
OMIM		 PMID:9536098 PMID:9887330 PMID:10201537 PMID:10208439 PMID:10676634 More... NCBI chr 7:9,574,553...9,591,315
Ensembl chr 7:9,575,269...9,591,315 		JBrowse link
G Tcf25 transcription factor 25 ISO ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 ClinVar PMID:28492532 NCBI chr19:51,415,341...51,449,725
Ensembl chr19:51,415,543...51,449,723 		JBrowse link
G Tert telomerase reverse transcriptase ISO ClinVar Annotator: match by term: Cutaneous malignant melanoma 9 | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 9 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 1 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 9
ClinVar Annotator: match by term: Cutaneous malignant melanoma 9 | ClinVar Annotator: match by term: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 9 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 1 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 9
ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 9 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 1 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 9		 OMIM
ClinVar		 PMID:20871597 PMID:21436073 PMID:22037553 PMID:23066086 PMID:23348503 More... NCBI chr 1:29,637,213...29,659,561
Ensembl chr 1:29,637,506...29,659,561 		JBrowse link
G Tp53 tumor protein p53 ISO ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5
ClinVar Annotator: match by term: Familial melanoma		 ClinVar PMID:12826609 PMID:25741868 PMID:28492532 PMID:29979965 PMID:30224644 NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524 		JBrowse link
G Tsfm Ts translation elongation factor, mitochondrial ISO ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:28492532 NCBI chr 7:62,828,997...62,864,784
Ensembl chr 7:62,845,488...62,864,769 		JBrowse link
G Tspan31 tetraspanin 31 ISO ClinVar Annotator: match by term: Cutaneous Malignant Melanoma, Dominant | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5
ClinVar Annotator: match by term: Cutaneous Malignant Melanoma, Dominant | ClinVar Annotator: match by term: Cutaneous malignant melanoma 9 | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 1 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3
ClinVar Annotator: match by term: Cutaneous Malignant Melanoma, Dominant | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3
ClinVar Annotator: match by term: Cutaneous Malignant Melanoma, Dominant | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5		 ClinVar PMID:9536098 PMID:17576681 PMID:20668451 PMID:21520333 PMID:23718828 More... NCBI chr 7:62,889,552...62,892,428
Ensembl chr 7:62,889,552...62,898,388 		JBrowse link
G Tyr tyrosinase ISO ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10
ClinVar Annotator: match by term: MELANOMA AND RENAL CELL CARCINOMA, SUSCEPTIBILITY TO		 ClinVar PMID:666627 PMID:1429711 PMID:1820207 PMID:7704033 PMID:9158138 More... NCBI chr 1:141,115,036...141,210,207
Ensembl chr 1:141,115,036...141,210,207 		JBrowse link
G Xrcc3 X-ray repair cross complementing 3 ISO ClinVar Annotator: match by term: Cutaneous malignant melanoma 6 ClinVar
OMIM		 PMID:11059748 PMID:25741868 PMID:28492532 NCBI chr 6:130,863,405...130,873,765
Ensembl chr 6:130,863,959...130,872,444 		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 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Ferguson-Smith type epithelioma | ClinVar Annotator: match by term: Multiple self-healing squamous epithelioma		 CTD
OMIM
ClinVar		 PMID:2511639 PMID:2647812 PMID:5173258 PMID:8499949 PMID:16596670 More... NCBI chr 5:61,653,773...61,710,777
Ensembl chr 5:61,653,233...61,710,777 		JBrowse link
keratoacanthoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Notch1 notch receptor 1 ISO ClinVar Annotator: match by term: Keratoacanthoma ClinVar PMID:27283355 NCBI chr 3:9,277,955...9,323,531
Ensembl chr 3:9,278,086...9,323,531 		JBrowse link
G Notch2 notch receptor 2 ISO ClinVar Annotator: match by term: Keratoacanthoma ClinVar PMID:27283355 NCBI chr 2:185,610,594...185,744,088
Ensembl chr 2:185,610,589...185,744,088 		JBrowse link
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha ISO ClinVar Annotator: match by term: Keratoacanthoma ClinVar PMID:22949682 PMID:23246288 PMID:25741868 PMID:26619011 PMID:27283355 More... NCBI chr 2:115,175,275...115,249,034
Ensembl chr 2:115,174,984...115,249,032 		JBrowse link
Merkel cell carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cd68 Cd68 molecule ISO protein:increased expression:tumor (human) RGD PMID:22050913 RGD:40925916 NCBI chr10:54,381,814...54,383,693
Ensembl chr10:54,381,815...54,383,697 		JBrowse link
G Fgfr3 fibroblast growth factor receptor 3 ISO mRNA:decreased expression:skin (human) RGD PMID:28359267 RGD:38500206 NCBI chr14:76,987,242...77,002,671
Ensembl chr14:76,987,993...77,003,341 		JBrowse link
G Myc MYC proto-oncogene, bHLH transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:25277525 NCBI chr 7:93,593,705...93,598,633
Ensembl chr 7:93,593,705...93,598,630 		JBrowse link
G Spa17 sperm autoantigenic protein 17 ISO mRNA,protein:increased expression:nucleus RGD PMID:31218705 RGD:27226803 NCBI chr 8:37,307,432...37,318,519
Ensembl chr 8:37,307,557...37,318,639 		JBrowse link
Multiple Basal Cell Carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccnh cyclin H ISO ClinVar Annotator: match by term: Basal cell carcinoma, multiple ClinVar PMID:24038909 PMID:25741868 PMID:28492532 NCBI chr 2:15,835,064...15,855,648
Ensembl chr 2:15,834,833...15,855,819 		JBrowse link
G Ptch1 patched 1 ISO ClinVar Annotator: match by term: Basal cell carcinoma, multiple ClinVar PMID:22703879 PMID:24728327 PMID:25741868 PMID:26467025 PMID:28492532 More... NCBI chr17:1,542,705...1,607,730
Ensembl chr17:1,542,877...1,607,333 		JBrowse link
G Rasa1 RAS p21 protein activator 1 ISO ClinVar Annotator: match by term: Basal cell carcinoma, multiple ClinVar PMID:22200646 PMID:23801933 PMID:24038909 PMID:25741868 PMID:28492532 NCBI chr 2:15,857,704...15,940,757
Ensembl chr 2:15,857,980...15,940,854 		JBrowse link
G Smo smoothened, frizzled class receptor ISO ClinVar Annotator: match by term: Basal cell carcinoma, multiple ClinVar PMID:25741868 PMID:28492532 NCBI chr 4:58,343,626...58,373,823
Ensembl chr 4:58,343,529...58,373,829 		JBrowse link
Multiple Self-healing Palmoplantar Carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nlrp1a NLR family, pyrin domain containing 1A ISO ClinVar Annotator: match by term: Palmoplantar carcinoma, multiple self-healing
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:17377159 PMID:23349227 PMID:24033266 PMID:25050600 PMID:25741868 More... NCBI chr10:55,778,560...55,833,639
Ensembl chr10:55,778,560...55,825,180 		JBrowse link
nevoid basal cell carcinoma syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aopep aminopeptidase O ISO ClinVar Annotator: match by term: Gorlin syndrome ClinVar PMID:17703323 PMID:17924555 PMID:22382802 PMID:28492532 NCBI chr17:1,811,281...2,127,316
Ensembl chr17:1,811,980...2,127,331 		JBrowse link
G Arl3 ADP ribosylation factor like GTPase 3 ISO ClinVar Annotator: match by term: Gorlin syndrome ClinVar PMID:12068298 PMID:22508808 PMID:25403219 PMID:28492532 PMID:31639285 NCBI chr 1:245,400,659...245,446,673
Ensembl chr 1:245,400,550...245,446,820 		JBrowse link
G Cyp17a1 cytochrome P450, family 17, subfamily a, polypeptide 1 ISO ClinVar Annotator: match by term: Gorlin syndrome ClinVar PMID:12068298 PMID:22508808 PMID:25403219 PMID:28492532 PMID:31639285 NCBI chr 1:245,535,462...245,543,148
Ensembl chr 1:245,535,462...245,541,573 		JBrowse link
G Fancc FA complementation group C ISO ClinVar Annotator: match by term: Gorlin syndrome ClinVar PMID:17703323 PMID:17924555 PMID:22382802 PMID:28492532 NCBI chr17:1,680,660...1,822,610
Ensembl chr17:1,681,324...1,829,376 		JBrowse link
G Gli1 GLI family zinc finger 1 ISO RGD PMID:15308259 RGD:12801443 NCBI chr 7:63,156,926...63,169,579
Ensembl chr 7:63,156,926...63,169,251 		JBrowse link
G Gli2 GLI family zinc finger 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16936257 NCBI chr13:29,946,882...30,163,589
Ensembl chr13:29,946,809...30,163,574 		JBrowse link
G Ptch1 patched 1 ISO
ISS		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Basal cell nevus syndrome | ClinVar Annotator: match by term: Fifth Phacomatosis | ClinVar Annotator: match by term: Gorlin syndrome | ClinVar Annotator: match by term: Gorlin-Goltz Syndrome | ClinVar Annotator: match by term: Multiple Basal Cell Nevi, Odontogenic Keratocysts, And Skeletal Anomalies
DNA: splice-site mutation :exon
DNA: nonsense mutation:exon:p.W399* (human)
DNA:missense mutation:exon:p.E237EK (897G>A) (human)
DNA:mutations:exon, intron:multiple		 CTD
ClinVar
MouseDO
RGD		 PMID:1347096 PMID:1850296 PMID:8302318 PMID:8658145 PMID:8681379 More... RGD:13207424, RGD:13207421, RGD:12801443, RGD:12801422, RGD:12798568 NCBI chr17:1,542,705...1,607,730
Ensembl chr17:1,542,877...1,607,333 		JBrowse link
G Ptch2 patched 2 ISO ClinVar Annotator: match by term: Basal cell nevus syndrome | ClinVar Annotator: match by term: Fifth Phacomatosis | ClinVar Annotator: match by term: Gorlin syndrome ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:18285427 PMID:23951062 More... NCBI chr 5:130,571,956...130,592,506
Ensembl chr 5:130,572,312...130,592,405 		JBrowse link
G Pth parathyroid hormone ISO CTD Direct Evidence: marker/mechanism CTD PMID:24803734 NCBI chr 1:167,508,121...167,511,530
Ensembl chr 1:167,508,598...167,511,530 		JBrowse link
G Sfxn2 sideroflexin 2 ISO ClinVar Annotator: match by term: Gorlin syndrome ClinVar PMID:12068298 PMID:22508808 PMID:25403219 PMID:28492532 PMID:31639285 NCBI chr 1:245,447,014...245,459,312
Ensembl chr 1:245,447,015...245,468,411
Ensembl chr 1:245,447,015...245,468,411 		JBrowse link
G Shh sonic hedgehog signaling molecule ISO RGD PMID:9115210 RGD:12802345 NCBI chr 4:6,954,017...6,963,170
Ensembl chr 4:6,954,017...6,963,170 		JBrowse link
G Smo smoothened, frizzled class receptor ISO RGD PMID:15308259 RGD:12801443 NCBI chr 4:58,343,626...58,373,823
Ensembl chr 4:58,343,529...58,373,829 		JBrowse link
G Sufu SUFU negative regulator of hedgehog signaling ISS
ISO		 OMIM:109400
ClinVar Annotator: match by term: Basal cell nevus syndrome | ClinVar Annotator: match by term: Fifth Phacomatosis | ClinVar Annotator: match by term: Gorlin syndrome		 MouseDO
ClinVar		 PMID:9536098 PMID:12068298 PMID:16199547 PMID:17102621 PMID:17576681 More... NCBI chr 1:245,257,725...245,355,576
Ensembl chr 1:245,257,768...245,355,577 		JBrowse link
G Trim8 tripartite motif-containing 8 ISO ClinVar Annotator: match by term: Gorlin syndrome ClinVar PMID:12068298 PMID:22508808 PMID:25403219 PMID:28492532 PMID:31639285 NCBI chr 1:245,369,632...245,384,513
Ensembl chr 1:245,369,632...245,384,513 		JBrowse link
G Wbp1l WW domain binding protein 1-like ISO ClinVar Annotator: match by term: Gorlin syndrome ClinVar PMID:12068298 PMID:22508808 PMID:25403219 PMID:28492532 PMID:31639285 NCBI chr 1:245,472,292...245,528,627
Ensembl chr 1:245,472,296...245,528,627 		JBrowse link
nevoid basal cell carcinoma syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ptch1 patched 1 ISO ClinVar Annotator: match by term: Basal cell nevus syndrome 1 OMIM
ClinVar		 PMID:20301330 PMID:25741868 NCBI chr17:1,542,705...1,607,730
Ensembl chr17:1,542,877...1,607,333 		JBrowse link
nevoid basal cell carcinoma syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sufu SUFU negative regulator of hedgehog signaling ISO ClinVar Annotator: match by term: Basal cell nevus syndrome 2 | ClinVar Annotator: match by term: NEVOID BASAL CELL CARCINOMA SYNDROME 2 ClinVar
OMIM		 PMID:12068298 PMID:19533801 PMID:19833601 PMID:21188540 PMID:22508808 More... NCBI chr 1:245,257,725...245,355,576
Ensembl chr 1:245,257,768...245,355,577 		JBrowse link
skin cancer term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Anxa7 annexin A7 ISO protein:decreased expression:skin RGD PMID:17708571 RGD:2292654 NCBI chr15:3,821,798...3,849,659
Ensembl chr15:3,821,845...3,849,385 		JBrowse link
G Chuk component of inhibitor of nuclear factor kappa B kinase complex ISO RGD PMID:21755017 RGD:13504775 NCBI chr 1:242,959,539...242,995,066
Ensembl chr 1:242,959,760...242,995,065 		JBrowse link
G Crkl CRK like proto-oncogene, adaptor protein ISO RGD PMID:16391854 RGD:7488899 NCBI chr11:83,528,788...83,563,214
Ensembl chr11:83,526,530...83,563,238 		JBrowse link
G Pml PML nuclear body scaffold severity ISO human gene in a mouse model RGD PMID:19058256 RGD:41404688 NCBI chr 8:58,627,347...58,661,927
Ensembl chr 8:58,628,837...58,658,971 		JBrowse link
G Srsf6 serine and arginine rich splicing factor 6 ISO protein:increased expression:skin (human) RGD PMID:24440982 RGD:11039481 NCBI chr 3:151,589,546...151,594,869
Ensembl chr 3:151,589,535...151,594,860 		JBrowse link
skin melanoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aff4 ALF transcription elongation factor 4 disease_progression ISO RGD PMID:33417923 RGD:155631266 NCBI chr10:37,498,825...37,579,751
Ensembl chr10:37,498,825...37,579,751 		JBrowse link
G Agt angiotensinogen ISO protein:increased expression:serum RGD PMID:19394758 RGD:8548874 NCBI chr19:52,529,139...52,549,618
Ensembl chr19:52,529,185...52,540,977 		JBrowse link
G Akt1 AKT serine/threonine kinase 1 ISO ClinVar Annotator: match by term: Cutaneous melanoma ClinVar PMID:17611497 PMID:18256540 PMID:18392055 PMID:18504432 PMID:18611285 More... NCBI chr 6:131,713,716...131,735,319
Ensembl chr 6:131,713,720...131,733,921 		JBrowse link
G Araf A-Raf proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: Malignant melanoma of skin ClinVar PMID:24569458 PMID:26619011 NCBI chr  X:1,227,392...1,292,356
Ensembl chr  X:1,227,392...1,239,073 		JBrowse link
G Arhgap44 Rho GTPase activating protein 44 severity ISO DNA:SNP:intron: (rs72635537) (human) RGD PMID:28510328 RGD:401901274 NCBI chr10:49,655,583...49,822,876
Ensembl chr10:49,655,584...49,824,297 		JBrowse link
G B2m beta-2 microglobulin ISO ClinVar Annotator: match by term: Cutaneous melanoma ClinVar PMID:26619011 NCBI chr 3:109,095,740...109,101,764
Ensembl chr 3:109,095,729...109,101,766 		JBrowse link
G Bcl2l12 Bcl2 like 12 ISO ClinVar Annotator: match by term: Cutaneous melanoma ClinVar PMID:26619011 NCBI chr 1:95,472,272...95,480,991
Ensembl chr 1:95,472,272...95,480,991 		JBrowse link
G Birc2 baculoviral IAP repeat-containing 2 exacerbates ISO mRNA:increased expression:zone of skin (human) RGD PMID:31964418 RGD:153344516 NCBI chr 8:4,968,856...4,989,325
Ensembl chr 8:4,968,842...4,988,732 		JBrowse link
G Braf B-Raf proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: Cutaneous melanoma | ClinVar Annotator: match by term: DYSPLASTIC NEVUS SYNDROME, HEREDITARY | ClinVar Annotator: match by term: Malignant melanoma of skin ClinVar PMID:2493360 PMID:2500657 PMID:12068308 PMID:12198537 PMID:12447372 More... NCBI chr 4:68,375,484...68,510,652
Ensembl chr 4:68,384,649...68,510,463 		JBrowse link
G Brca2 BRCA2, DNA repair associated disease_progression ISO DNA:SNP: :rs206118, rs3752447, rs10492396 (human) RGD PMID:25243787 RGD:11344896 NCBI chr12:59,492...103,789
Ensembl chr12:59,819...100,567 		JBrowse link
G Ccl2 C-C motif chemokine ligand 2 disease_progression ISO DNA:SNP: :2578A>G (human) RGD PMID:17169533 RGD:9491398 NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226 		JBrowse link
G Cd40 CD40 molecule disease_progression ISO RGD PMID:8952530 RGD:8547772 NCBI chr 3:153,790,372...153,805,279
Ensembl chr 3:153,790,449...153,805,534 		JBrowse link
G Cdk4 cyclin-dependent kinase 4 ISO ClinVar Annotator: match by term: Malignant melanoma of skin ClinVar PMID:5377176 PMID:7652577 PMID:8528263 PMID:8968104 PMID:9228064 More... NCBI chr 7:62,886,124...62,889,562
Ensembl chr 7:62,883,105...62,942,403 		JBrowse link
G Cdkn2a cyclin-dependent kinase inhibitor 2A ISO DNA:frameshift mutations, deletions:cds:multiple (human)
DNA:missense mutation:exon:p.P48L (human)
ClinVar Annotator: match by term: Cutaneous melanoma | ClinVar Annotator: match by term: Malignant melanoma of skin		 ClinVar
RGD		 PMID:7777060 PMID:7777061 PMID:7780957 PMID:8521414 PMID:8573142 More... RGD:8552276, RGD:8552302 NCBI chr 5:103,984,949...103,992,143
Ensembl chr 5:103,984,949...104,003,149 		JBrowse link
G Chaf1b chromatin assembly factor 1 subunit B severity ISO protein:increased expression:skin: RGD PMID:20178651 RGD:9587476 NCBI chr11:33,200,894...33,221,076
Ensembl chr11:33,200,981...33,221,070 		JBrowse link
G Cnot9 CCR4-NOT transcription complex subunit 9 ISO ClinVar Annotator: match by term: Malignant melanoma of skin ClinVar PMID:25741868 PMID:26619011 NCBI chr 9:76,084,269...76,109,111
Ensembl chr 9:76,084,334...76,109,100 		JBrowse link
G Crebbp CREB binding protein ISO ClinVar Annotator: match by term: Cutaneous melanoma ClinVar PMID:21390126 PMID:21680795 PMID:21796119 PMID:22832583 PMID:23334668 More... NCBI chr10:11,335,551...11,461,888
Ensembl chr10:11,335,953...11,461,888 		JBrowse link
G Crnkl1 crooked neck pre-mRNA splicing factor 1 ISO ClinVar Annotator: match by term: Cutaneous melanoma ClinVar PMID:26619011 NCBI chr 3:133,338,593...133,354,329
Ensembl chr 3:133,337,039...133,354,302
Ensembl chr 6:133,337,039...133,354,302 		JBrowse link
G Ctcf CCCTC-binding factor ISO DNA:mutations:multiple (human) RGD PMID:27974201 RGD:151356739 NCBI chr19:33,521,726...33,571,124
Ensembl chr19:33,529,319...33,571,123 		JBrowse link
G Ctnnb1 catenin beta 1 ISO ClinVar Annotator: match by term: Cutaneous melanoma | ClinVar Annotator: match by term: Malignant melanoma of skin ClinVar PMID:9065402 PMID:9065403 PMID:9294210 PMID:9500465 PMID:9927029 More... NCBI chr 8:120,640,008...120,667,110
Ensembl chr 8:120,639,995...120,667,111 		JBrowse link
G Ddr1 discoidin domain receptor tyrosine kinase 1 severity
treatment		 ISO protein:increased expression:skin lesion (human)
human cells in mouse model; DDR1-IN-1		 RGD PMID:31271515 PMID:31271515 RGD:151347864, RGD:151347864 NCBI chr20:3,042,494...3,064,442
Ensembl chr20:3,044,320...3,064,468 		JBrowse link
G Dnmt3b DNA methyltransferase 3 beta disease_progression ISO RGD PMID:21081840 RGD:9589074 NCBI chr 3:142,130,588...142,169,128
Ensembl chr 3:142,130,592...142,169,124 		JBrowse link
G Erbb2 erb-b2 receptor tyrosine kinase 2 ISO ClinVar Annotator: match by term: Cutaneous melanoma ClinVar PMID:18413839 PMID:22046346 PMID:23220880 PMID:25157968 PMID:26619011 NCBI chr10:83,411,197...83,435,078
Ensembl chr10:83,411,313...83,435,078 		JBrowse link
G Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit ISO ClinVar Annotator: match by term: Malignant melanoma of skin ClinVar PMID:23023262 PMID:24563539 PMID:26619011 NCBI chr 4:76,624,399...76,687,362
Ensembl chr 4:76,624,399...76,687,362 		JBrowse link
G Fanca FA complementation group A disease_progression ISO DNA:SNP: :rs62068372 (human) RGD PMID:25243787 RGD:11344896 NCBI chr19:51,304,126...51,362,586
Ensembl chr19:51,304,021...51,362,527 		JBrowse link
G Fancd2 FA complementation group D2 ISO mRNA,protein:increased expression:skin,nucleus: RGD PMID:21697891 RGD:11046262 NCBI chr 4:146,679,014...146,743,422
Ensembl chr 4:146,679,179...146,743,412 		JBrowse link
G Fbxw7 F-box and WD repeat domain containing 7 ISO ClinVar Annotator: match by term: Cutaneous melanoma ClinVar PMID:25741868 PMID:26619011 NCBI chr 2:170,149,706...170,311,536
Ensembl chr 2:170,149,694...170,309,941 		JBrowse link
G Gna11 G protein subunit alpha 11 ISO ClinVar Annotator: match by term: Malignant melanoma of skin ClinVar PMID:1328859 PMID:2549426 PMID:21083380 PMID:21444680 PMID:22733540 More... NCBI chr 7:8,163,520...8,177,863
Ensembl chr 7:8,162,750...8,179,812 		JBrowse link
G Gnas GNAS complex locus ISO ClinVar Annotator: match by term: Cutaneous melanoma ClinVar PMID:1517386 PMID:1594625 PMID:1944469 PMID:2549426 PMID:3720010 More... NCBI chr 3:163,071,003...163,136,350
Ensembl chr 3:163,071,417...163,127,262
Ensembl chr 3:163,071,417...163,127,262 		JBrowse link
G Gpx1 glutathione peroxidase 1 ISO mRNA:increased expression:skin of body (human) RGD PMID:29535818 RGD:152023655 NCBI chr 8:109,026,905...109,028,031
Ensembl chr 8:109,026,905...109,028,024 		JBrowse link
G Gstm1 glutathione S-transferase mu 1 susceptibility ISO DNA:deletion:: (human) RGD PMID:11352862 RGD:12792221 NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411 		JBrowse link
G Gstt1 glutathione S-transferase theta 1 susceptibility ISO DNA:deletion:: (human) RGD PMID:11352862 RGD:12792221 NCBI chr20:12,856,613...12,873,586
Ensembl chr20:12,856,669...12,873,585 		JBrowse link
G Hif1a hypoxia inducible factor 1 subunit alpha ISO protein:increased expression:epidermis (human) RGD PMID:19558170 RGD:8695922 NCBI chr 6:92,624,059...92,669,262
Ensembl chr 6:92,624,390...92,669,261 		JBrowse link
G Hras HRas proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Cutaneous melanoma | ClinVar Annotator: match by term: Malignant melanoma of skin ClinVar PMID:1904555 PMID:3510078 PMID:11150980 PMID:12835555 PMID:16155195 More... NCBI chr 1:196,290,127...196,299,823
Ensembl chr 1:196,296,263...196,300,615 		JBrowse link
G Icam1 intercellular adhesion molecule 1 disease_progression ISO DNA:missense mutation:exon:p.R241G (human) RGD PMID:16313300 RGD:8547698 NCBI chr 8:19,553,063...19,565,438
Ensembl chr 8:19,553,645...19,565,438 		JBrowse link
G Idh1 isocitrate dehydrogenase (NADP(+)) 1 ISO ClinVar Annotator: match by term: Cutaneous melanoma ClinVar PMID:18772396 PMID:19657110 PMID:19798509 PMID:19818334 PMID:20946881 More... NCBI chr 9:66,534,146...66,563,703
Ensembl chr 9:66,534,146...66,563,708 		JBrowse link
G Kit KIT proto-oncogene receptor tyrosine kinase ISO ClinVar Annotator: match by term: Malignant melanoma of skin ClinVar PMID:7530509 PMID:9438854 PMID:11073817 PMID:11276010 PMID:11526490 More... NCBI chr14:32,547,459...32,624,694
Ensembl chr14:32,548,877...32,624,652 		JBrowse link
G Knstrn kinetochore-localized astrin/SPAG5 binding protein ISO ClinVar Annotator: match by term: Cutaneous melanoma ClinVar PMID:26619011 NCBI chr 3:105,800,762...105,820,555
Ensembl chr 3:105,800,954...105,820,715 		JBrowse link
G Kras KRAS proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Cutaneous melanoma ClinVar PMID:2278970 PMID:3122217 PMID:12460918 PMID:15696205 PMID:16361624 More... NCBI chr 4:178,185,418...178,218,484 JBrowse link
G Lrrc56 leucine rich repeat containing 56 ISO ClinVar Annotator: match by term: Cutaneous melanoma | ClinVar Annotator: match by term: Malignant melanoma of skin
ClinVar Annotator: match by term: Cutaneous melanoma | ClinVar Annotator: match by term: DYSPLASTIC NEVUS SYNDROME, HEREDITARY | ClinVar Annotator: match by term: Malignant melanoma of skin		 ClinVar PMID:1904555 PMID:3510078 PMID:11150980 PMID:12835555 PMID:16155195 More... NCBI chr 1:196,299,843...196,315,170
Ensembl chr 1:196,299,846...196,315,172 		JBrowse link
G Map2k1 mitogen activated protein kinase kinase 1 ISO ClinVar Annotator: match by term: Cutaneous melanoma | ClinVar Annotator: match by term: Malignant melanoma of skin ClinVar PMID:17366577 PMID:17551924 PMID:19915144 PMID:21107320 PMID:22197931 More... NCBI chr 8:64,683,449...64,754,900
Ensembl chr 8:64,683,449...64,755,147 		JBrowse link
G Map2k2 mitogen activated protein kinase kinase 2 ISO ClinVar Annotator: match by term: Malignant melanoma of skin ClinVar PMID:18042262 PMID:26619011 NCBI chr 7:8,590,729...8,610,279
Ensembl chr 7:8,580,905...8,610,243 		JBrowse link
G Mir21 microRNA 21 disease_progression ISO RNA:increased expression:skin (human) RGD PMID:26150475 RGD:11342032 NCBI chr10:71,405,257...71,405,348
Ensembl chr10:71,405,257...71,405,348 		JBrowse link
G Mmp1 matrix metallopeptidase 1 disease_progression ISO DNA:polymorphisms, haplotypes:promoter:multiple
DNA:SNPs, haplotype:promoter:multiple		 RGD PMID:20655738 PMID:22198560 RGD:8549726, RGD:8549727 NCBI chr 8:4,658,588...4,679,099
Ensembl chr 8:4,658,588...4,679,097 		JBrowse link
G Mmp2 matrix metallopeptidase 2 severity ISO mRNA:increased expression:skin RGD PMID:20966734 PMID:12404291 PMID:18251742 RGD:8657055, RGD:13204786, RGD:8657075 NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870 		JBrowse link
G Mmp9 matrix metallopeptidase 9 disease progression ISO DNA:SNP, missense mutations:promoter, cds:-1562C>T,p.R279Q, p.P574R (human) RGD PMID:17346338 PMID:12404291 RGD:8547886, RGD:13204786 NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120 		JBrowse link
G Mtor mechanistic target of rapamycin kinase ISO ClinVar Annotator: match by term: Cutaneous melanoma ClinVar PMID:20190810 PMID:24631838 PMID:25741868 PMID:26018084 PMID:26619011 More... NCBI chr 5:158,884,856...158,994,311
Ensembl chr 5:158,884,804...158,994,311 		JBrowse link
G Myc MYC proto-oncogene, bHLH transcription factor ISO ClinVar Annotator: match by term: Malignant melanoma of skin ClinVar PMID:25157968 PMID:26619011 NCBI chr 7:93,593,705...93,598,633
Ensembl chr 7:93,593,705...93,598,630 		JBrowse link
G Naip6 NLR family, apoptosis inhibitory protein 6 exacerbates ISO mRNA:increased expression:zone of skin (human) RGD PMID:31964418 RGD:153344516 NCBI chr 2:31,507,423...31,559,098
Ensembl chr 2:31,507,424...31,570,542 		JBrowse link
G Nras NRAS proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Cutaneous melanoma ClinVar PMID:1654209 PMID:2278970 PMID:2407301 PMID:2674680 PMID:2989702 More... NCBI chr 2:190,582,885...190,593,509
Ensembl chr 2:190,582,918...190,591,626 		JBrowse link
G Oca2 OCA2 melanosomal transmembrane protein susceptibility ISO DNA:snp:cds:p.R419Q (rs1800407) (human)
DNA:missense mutation:cds:p.H615R (rs1800414) (human)
DNA:snps:exon, intron:multiple (human)		 RGD PMID:19710684 PMID:24617981 PMID:15889046 RGD:9491818, RGD:9491831, RGD:9491829 NCBI chr 1:107,116,278...107,446,093
Ensembl chr 1:107,116,278...107,446,074 		JBrowse link
G Pdcd4 programmed cell death 4 disease_progression ISO mRNA:decreased expression:skin (human) RGD PMID:26150475 RGD:11342032 NCBI chr 1:252,921,342...252,944,278
Ensembl chr 1:252,921,392...252,944,275 		JBrowse link
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha ISO ClinVar Annotator: match by term: Cutaneous melanoma ClinVar PMID:15016963 PMID:15254419 PMID:15520168 PMID:15608678 PMID:15647370 More... NCBI chr 2:115,175,275...115,249,034
Ensembl chr 2:115,174,984...115,249,032 		JBrowse link
G Pik3r1 phosphoinositide-3-kinase regulatory subunit 1 ISO ClinVar Annotator: match by term: Cutaneous melanoma | ClinVar Annotator: match by term: Malignant melanoma of skin ClinVar PMID:19962457 PMID:25157968 PMID:25741868 PMID:26619011 NCBI chr 2:32,878,942...32,963,668
Ensembl chr 2:32,882,032...32,963,631 		JBrowse link
G Pot1 protection of telomeres 1 ISO ClinVar Annotator: match by term: Malignant melanoma of skin
ClinVar Annotator: match by term: DYSPLASTIC NEVUS SYNDROME, HEREDITARY | ClinVar Annotator: match by term: Malignant melanoma of skin		 ClinVar PMID:24686846 PMID:25741868 PMID:26467025 PMID:28492532 PMID:30451293 More... NCBI chr 4:54,205,330...54,263,137
Ensembl chr 4:54,205,332...54,263,042 		JBrowse link
G Ppp6c protein phosphatase 6, catalytic subunit ISO ClinVar Annotator: match by term: Malignant melanoma of skin ClinVar PMID:26619011 NCBI chr 3:22,929,816...22,962,123
Ensembl chr 3:22,931,577...22,962,113 		JBrowse link
G Pten phosphatase and tensin homolog ISO ClinVar Annotator: match by term: Cutaneous melanoma ClinVar PMID:1945792 PMID:9467011 PMID:9915974 PMID:10866302 PMID:11051241 More... NCBI chr 1:230,630,443...230,697,070
Ensembl chr 1:230,630,338...230,696,838 		JBrowse link
G Rac1 Rac family small GTPase 1 ISO ClinVar Annotator: match by term: Cutaneous melanoma ClinVar PMID:25056119 PMID:26619011 NCBI chr12:11,037,028...11,057,251
Ensembl chr12:11,036,698...11,057,251 		JBrowse link
G Raf1 Raf-1 proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: Cutaneous melanoma ClinVar PMID:1760348 PMID:10064593 PMID:17603482 PMID:17603483 PMID:19568997 More... NCBI chr 4:148,679,534...148,740,265
Ensembl chr 4:148,679,530...148,740,317 		JBrowse link
G Sf3b1 splicing factor 3b, subunit 1 ISO ClinVar Annotator: match by term: Malignant melanoma of skin ClinVar PMID:23634996 PMID:25741868 PMID:26619011 NCBI chr 9:56,492,403...56,532,300
Ensembl chr 9:56,492,403...56,532,300 		JBrowse link
G Sf3b2 splicing factor 3b, subunit 2 ISO ClinVar Annotator: match by term: Malignant melanoma of skin ClinVar PMID:26619011 NCBI chr 1:202,570,423...202,590,774
Ensembl chr 1:202,570,423...202,590,759 		JBrowse link
G Slc45a2 solute carrier family 45, member 2 ISO ClinVar Annotator: match by term: Malignant melanoma of skin ClinVar PMID:15714523 PMID:17044855 PMID:17999355 PMID:18563784 PMID:18683857 More... NCBI chr 2:59,963,599...59,996,408
Ensembl chr 2:59,963,706...59,996,317 		JBrowse link
G Stat3 signal transducer and activator of transcription 3 disease_progression ISO RGD PMID:21876460 RGD:8694297 NCBI chr10:85,811,206...85,863,057
Ensembl chr10:85,811,218...85,863,057 		JBrowse link
G Stk11 serine/threonine kinase 11 ISO ClinVar Annotator: match by term: DYSPLASTIC NEVUS SYNDROME, HEREDITARY ClinVar PMID:10201537 PMID:10208439 PMID:23555315 PMID:23993471 PMID:24033266 More... NCBI chr 7:9,574,553...9,591,315
Ensembl chr 7:9,575,269...9,591,315 		JBrowse link
G Stk19 serine/threonine kinase 19 ISO ClinVar Annotator: match by term: Cutaneous melanoma ClinVar PMID:26619011 NCBI chr20:3,995,590...4,005,117
Ensembl chr20:3,995,587...4,005,116 		JBrowse link
G Tp53 tumor protein p53 ISO ClinVar Annotator: match by term: Cutaneous melanoma | ClinVar Annotator: match by term: DYSPLASTIC NEVUS SYNDROME, HEREDITARY | ClinVar Annotator: match by term: Malignant melanoma of skin ClinVar PMID:253702 PMID:1349175 PMID:1359493 PMID:1565143 PMID:1565144 More... NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524 		JBrowse link
G Tp73 tumor protein p73 ISO mRNA:increased expression:skin of body (human) RGD PMID:30420492 RGD:151347580 NCBI chr 5:164,621,377...164,703,958
Ensembl chr 5:164,621,377...164,681,128 		JBrowse link
G Tyr tyrosinase susceptibility ISO DNA:missense mutation:cds:p.R402Q(human) RGD PMID:21906913 RGD:8694390 NCBI chr 1:141,115,036...141,210,207
Ensembl chr 1:141,115,036...141,210,207 		JBrowse link
G Vdr vitamin D receptor susceptibility
no_association		 ISO DNA:missense mutation, silent mutation: :p,M1T, p.I352 (c.1056T>C) (rs2228570, rs731236) (human)
DNA:SNPs: :multiple		 RGD PMID:16990805 PMID:22576141 PMID:19615888 RGD:8157629, RGD:8158075, RGD:8158071 NCBI chr 7:128,987,981...129,037,677
Ensembl chr 7:128,987,981...129,037,677 		JBrowse link
skin squamous cell carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ctcf CCCTC-binding factor ISO DNA:mutations:multiple (human) RGD PMID:27974201 RGD:151356739 NCBI chr19:33,521,726...33,571,124
Ensembl chr19:33,529,319...33,571,123 		JBrowse link
G Ddx5 DEAD-box helicase 5 ISO protein:increased expression:foreskin (human) RGD PMID:22548649 RGD:9850272 NCBI chr10:91,723,508...91,732,210
Ensembl chr10:91,723,508...91,732,283 		JBrowse link
G Fat1 FAT atypical cadherin 1 disease_progression ISO associated with Neoplasm Metastasis RGD PMID:33328637 RGD:151347447 NCBI chr16:47,177,253...47,296,261
Ensembl chr16:47,177,248...47,296,107 		JBrowse link
G Fgf10 fibroblast growth factor 10 ISO Pten conditional KO mouse RGD PMID:24582960 RGD:126928134 NCBI chr 2:50,801,171...50,878,218
Ensembl chr 2:50,800,992...50,876,866 		JBrowse link
G Knstrn kinetochore-localized astrin/SPAG5 binding protein ISO DNA:mutation:cds: p.Ala40Glu (human)
DNA:mutation:cds: p.Ser24Phe(human)		 RGD PMID:30972880 PMID:25194279 RGD:28867225, RGD:28867226 NCBI chr 3:105,800,762...105,820,555
Ensembl chr 3:105,800,954...105,820,715 		JBrowse link
G Pten phosphatase and tensin homolog ameliorates ISO RGD PMID:24582960 RGD:126928134 NCBI chr 1:230,630,443...230,697,070
Ensembl chr 1:230,630,338...230,696,838 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18211
      integumentary system disease 3960
        integumentary system cancer 157
          skin cancer + 157
Path 2
Term Annotations click to browse term
  disease 21128
    disease of cellular proliferation 7667
      cancer 5483
        organ system cancer 5237
          integumentary system cancer 157
            skin cancer + 157
paths to the root