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RGD DISEASE ONTOLOGY - ANNOTATIONS

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

Term:skin melanoma
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Accession:DOID:8923 term browser browse the term
Definition:A skin cancer that has_material_basis_in melanocytes. (DO)
Synonyms:exact_synonym: cutaneous malignant melanoma;   cutaneous melanoma;   hereditary dysplastic nevus syndrome;   malignant melanoma of skin
 narrow_synonym: malignant ear melanoma;   malignant lip melanoma;   malignant lower limb melanoma;   malignant melanoma of ear and/or external auricular canal;   malignant melanoma of skin of lower limb;   malignant melanoma of skin of trunk except scrotum;   malignant melanoma of skin of upper limb;   malignant neck melanoma;   malignant scalp melanoma;   malignant trunk melanoma;   malignant upper limb melanoma
 xref: EFO:0000389;   ICD10CM:C43.9;   ICD9CM:172.9;   MESH:D000096142;   MONDO:0005012;   NCI:C3510
For additional species annotation, visit the Alliance of Genome Resources.



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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 chr10:37,998,319...38,080,580
Ensembl chr10:37,498,825...37,579,751
JBrowse link
G Agt angiotensinogen ISO protein:increased expression:serum RGD PMID:19394758 RGD:8548874 NCBI chr19:69,426,540...69,447,017
Ensembl chr19:52,529,185...52,540,977
JBrowse link
G Arhgap44 Rho GTPase activating protein 44 severity ISO DNA:SNP:intron: (rs72635537) (human) RGD PMID:28510328 RGD:401901274 NCBI chr10:50,154,724...50,322,027
Ensembl chr10:49,655,584...49,824,297
JBrowse link
G Bap1 BRCA1 associated deubiquitinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25231345 PMID:26719535 NCBI chr16:6,453,126...6,461,952
Ensembl chr16:6,446,709...6,455,535
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 8:13,253,697...13,273,672
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
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:2493360 PMID:2500657 PMID:12068308 PMID:12198537 PMID:12447372 More... NCBI chr 4:69,329,772...69,476,931
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 chr12:4,895,092...4,939,340
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 chr10:67,503,077...67,504,875
Ensembl chr10:67,005,424...67,007,226
JBrowse link
G Cd40 CD40 molecule disease_progression ISO RGD PMID:8952530 RGD:8547772 NCBI chr 3:174,209,113...174,224,592
Ensembl chr 3:153,790,449...153,805,534
JBrowse link
G Cdk4 cyclin-dependent kinase 4 ISO ClinVar Annotator: match by term: Cutaneous melanoma | ClinVar Annotator: match by term: Malignant melanoma of skin
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:5377176 PMID:7652577 PMID:8528263 PMID:8968104 PMID:9228064 More... NCBI chr 7:64,771,453...64,774,891
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
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
RGD
PMID:7777060 PMID:7777061 PMID:7780957 PMID:8521414 PMID:8573142 More... RGD:8552276, RGD:8552302 NCBI chr 5:109,100,763...109,114,448
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 chr11:46,670,560...46,690,739
Ensembl chr11:33,200,981...33,221,070
JBrowse link
G Cnr1 cannabinoid receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28131817 NCBI chr 5:53,204,867...53,230,396
Ensembl chr 5:48,408,574...48,435,099
JBrowse link
G Creb1 cAMP responsive element binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29179997 NCBI chr 9:73,397,333...73,466,339
Ensembl chr 9:65,903,547...65,970,816
JBrowse link
G Ctcf CCCTC-binding factor ISO DNA:mutations:multiple (human) RGD PMID:27974201 RGD:151356739 NCBI chr19:50,431,478...50,481,013
Ensembl chr19:33,529,319...33,571,123
JBrowse link
G Ctnnb1 catenin beta 1 ISO ClinVar Annotator: match by term: Cutaneous melanoma ClinVar PMID:10192393 PMID:25741868 PMID:26619011 NCBI chr 8:129,517,576...129,544,661
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 chr20:3,047,269...3,069,277
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 3:162,590,777...162,629,313
Ensembl chr 3:142,130,592...142,169,124
JBrowse link
G Eml1 EMAP like 1 disease_progression ISO DNA:SNP: :rs10151787 (A>G) RGD PMID:34249459 RGD:597538489 NCBI chr 6:133,048,271...133,221,642
Ensembl chr 6:127,284,029...127,457,246
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 4:148,234,633...148,299,035
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 Annotator: match by term: Malignant melanoma of skin ClinVar PMID:25741868 PMID:26619011 NCBI chr 2:172,447,738...172,609,591
Ensembl chr 2:170,149,694...170,309,941
JBrowse link
G Gpx1 glutathione peroxidase 1 ISO mRNA:increased expression:skin of body (human) RGD PMID:29535818 RGD:152023655 NCBI chr 8:117,905,462...117,906,588
Ensembl chr 8:109,026,905...109,028,024
JBrowse link
G Grm1 glutamate metabotropic receptor 1 ISS OMIM:608035 | OMIM:612263 MouseDO NCBI chr 1:6,878,542...7,273,447
Ensembl chr 1:5,058,292...5,453,170
JBrowse link
G Gstm1 glutathione S-transferase mu 1 susceptibility ISO DNA:deletion:: (human) RGD PMID:11352862 RGD:12792221 NCBI chr 2:198,338,005...198,346,007
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 chr20:12,856,068...12,873,020
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 6:98,357,788...98,405,068
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 1:205,712,625...205,729,406
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 8:27,829,688...27,841,618
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 Annotator: match by term: Malignant melanoma of skin ClinVar PMID:18772396 PMID:19657110 PMID:19798509 PMID:19818334 PMID:20946881 More... NCBI chr 9:74,027,887...74,057,442
Ensembl chr 9:66,534,146...66,563,708
JBrowse link
G Jmjd6 jumonji domain containing 6, arginine demethylase and lysine hydroxylase ISO CTD Direct Evidence: marker/mechanism CTD PMID:30619488 NCBI chr10:102,539,935...102,545,986
Ensembl chr10:102,041,120...102,047,182
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 1:205,729,402...205,744,754
Ensembl chr 1:196,299,846...196,315,172
JBrowse link
G Mc1r melanocortin 1 receptor ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr19:68,360,950...68,363,877
Ensembl chr19:51,453,239...51,454,192
JBrowse link
G Mir21 microRNA 21 disease_progression ISO RNA:increased expression:skin (human) RGD PMID:26150475 RGD:11342032 NCBI chr10:71,902,600...71,902,691
Ensembl chr10:71,405,257...71,405,348
JBrowse link
G Mitf melanocyte inducing transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:22012259 PMID:22080950 NCBI chr 4:131,965,676...132,177,790
Ensembl chr 4:130,409,217...130,621,145
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 8:12,943,453...12,963,966
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:18251742 PMID:12404291 RGD:8657055, RGD:8657075, RGD:13204786 NCBI chr19:30,327,643...30,355,856
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 3:174,103,474...174,111,434
Ensembl chr 3:153,683,858...153,692,120
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 2:33,241,520...33,293,184
Ensembl chr 2:31,507,424...31,570,542
JBrowse link
G Oca2 OCA2 melanosomal transmembrane protein susceptibility ISO DNA:snp:cds:p.R419Q (rs1800407) (human)
DNA:snps:exon, intron:multiple (human)
DNA:missense mutation:cds:p.H615R (rs1800414) (human)
RGD PMID:19710684 PMID:15889046 PMID:24617981 RGD:9491818, RGD:9491829, RGD:9491831 NCBI chr 1:116,252,026...116,581,838
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 1:262,912,659...262,949,581
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 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 More... NCBI chr 2:117,103,643...117,177,411
Ensembl chr 2:115,174,984...115,249,032
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 PMID:24686846 PMID:25741868 PMID:26467025 PMID:28492532 PMID:30451293 More... NCBI chr 4:55,170,821...55,228,588
Ensembl chr 4:54,205,332...54,263,042
JBrowse link
G Pten phosphatase and tensin homolog 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:1945792 PMID:9467011 PMID:9915974 PMID:10866302 PMID:11051241 More... NCBI chr 1:240,043,707...240,110,330
Ensembl chr 1:230,630,338...230,696,838
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 chr10:86,311,528...86,363,513
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
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:10201537 PMID:10208439 PMID:23555315 PMID:23993471 PMID:24033266 More... NCBI chr 7:10,225,204...10,241,965
Ensembl chr 7:9,575,269...9,591,315
JBrowse link
G Tert telomerase reverse transcriptase ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:31,465,766...31,488,650
Ensembl chr 1:29,637,506...29,659,561
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 Annotator: match by term: Cutaneous melanoma | ClinVar Annotator: match by term: Malignant melanoma of skin
ClinVar PMID:253702 PMID:1349175 PMID:1359493 PMID:1565143 PMID:1565144 More... NCBI chr10:54,798,871...54,810,300
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 5:169,903,801...169,988,075
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 1:150,527,687...150,622,857
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:19615888 PMID:22576141 RGD:8157629, RGD:8158071, RGD:8158075 NCBI chr 7:130,864,764...130,916,757
Ensembl chr 7:128,987,981...129,037,677
JBrowse link
G Xrcc3 X-ray repair cross complementing 3 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 6:136,684,558...136,694,822
Ensembl chr 6:130,863,959...130,872,444
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 7:64,891,260...64,898,382
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 7:64,873,909...64,881,512
Ensembl chr 7:62,988,930...62,996,190
JBrowse link
G Bap1 BRCA1 associated deubiquitinase 1 ISO ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:21874000 PMID:23684012 PMID:25741868 PMID:28492532 NCBI chr16:6,453,126...6,461,952
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 Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 1 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5
ClinVar Annotator: match by term: 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:2500657 PMID:16439621 PMID:16474404 PMID:17366577 PMID:17551924 More... NCBI chr 4:69,329,772...69,476,931
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: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5
ClinVar Annotator: match by term: Cutaneous Malignant Melanoma, Dominant | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 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: MELANOMA AND RENAL CELL CARCINOMA, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3
ClinVar Annotator: match by term: Cutaneous Malignant Melanoma, Dominant | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Hereditary cutaneous melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5
ClinVar Annotator: match by term: Cutaneous Malignant Melanoma, Dominant | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 2 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3
ClinVar Annotator: match by term: Cutaneous Malignant Melanoma, Dominant | ClinVar Annotator: match by term: Cutaneous malignant melanoma 5 | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5
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
OMIM
ClinVar
PMID:5377176 PMID:7652577 PMID:8528263 PMID:8968104 PMID:9228064 More... NCBI chr 7:64,771,453...64,774,891
Ensembl chr 7:62,883,105...62,942,403
JBrowse link
G Cdkn2a cyclin-dependent kinase inhibitor 2A ISO ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: MELANOMA AND RENAL CELL CARCINOMA, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 1 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 2 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 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, 1 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 2 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5
ClinVar Annotator: match by term: Cutaneous malignant melanoma 6 | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Hereditary cutaneous melanoma | ClinVar Annotator: match by term: MELANOMA AND RENAL CELL CARCINOMA, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 2 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3
ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: 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: 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 AND RENAL CELL CARCINOMA, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 1 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 2 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 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, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 2 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5
ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Hereditary cutaneous melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 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: 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 5:109,100,763...109,114,448
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 5:109,123,308...109,134,906
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: Familial melanoma ClinVar PMID:28492532 NCBI chr 7:64,756,626...64,761,570
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 7:64,977,338...64,992,875
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 7:65,001,695...65,006,517
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 chr16:6,462,419...6,523,545
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 7:65,042,237...65,054,888
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 7:65,069,450...65,082,919
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 7:65,061,531...65,064,519
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 7:64,937,210...64,974,339
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:28492532 NCBI chr 6:136,644,592...136,690,399
Ensembl chr 6:130,823,419...130,867,031
JBrowse link
G Lrp1 LDL receptor related protein 1 ISO ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 1 ClinVar PMID:28492532 NCBI chr 7:65,265,639...65,346,196
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 7:65,006,456...65,023,880
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 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: 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
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
OMIM
ClinVar
PMID:7581459 PMID:8605020 PMID:8894704 PMID:8944016 PMID:8990005 More... NCBI chr19:68,360,950...68,363,877
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 Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: MELANOMA AND RENAL CELL CARCINOMA, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 8
ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: MELANOMA AND RENAL CELL CARCINOMA, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 8
ClinVar
OMIM
PMID:2440678 PMID:8589691 PMID:8659547 PMID:9536098 PMID:10587587 More... NCBI chr 4:131,965,676...132,177,790
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 7:64,802,517...64,829,185
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: 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: Familial melanoma | ClinVar Annotator: match by term: MELANOMA AND RENAL CELL CARCINOMA, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 9 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 1 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 8
ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, 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: 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, 3 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 8 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 9
ClinVar Annotator: match by term: 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, 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: Cutaneous malignant melanoma 5 | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 1 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 2 | 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, 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: 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
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
PMID:9536098 PMID:16199547 PMID:17576681 PMID:19461895 PMID:19763152 More... NCBI chr 4:55,170,821...55,228,588
Ensembl chr 4:54,205,332...54,263,042
JBrowse link
G Pten phosphatase and tensin homolog ISO ClinVar Annotator: match by term: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 1 ClinVar PMID:24033266 PMID:24055113 PMID:25741868 PMID:25980754 PMID:28492532 More... NCBI chr 1:240,043,707...240,110,330
Ensembl chr 1:230,630,338...230,696,838
JBrowse link
G R3hdm2 R3H domain containing 2 ISO ClinVar Annotator: match by term: Familial melanoma ClinVar PMID:28492532 NCBI chr 7:65,097,685...65,225,863
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 7:65,244,247...65,249,580
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 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: 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
OMIM
PMID:9536098 PMID:9887330 PMID:10201537 PMID:10208439 PMID:10676634 More... NCBI chr 7:10,225,204...10,241,965
Ensembl chr 7:9,575,269...9,591,315
JBrowse link
G Tcf25 TCF25 ribosome quality control complex subunit ISO ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 ClinVar PMID:28492532 NCBI chr19:68,323,789...68,358,226
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, 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
OMIM
ClinVar
PMID:15814878 PMID:19561322 PMID:19674077 PMID:20301779 PMID:20871597 More... NCBI chr 1:31,465,766...31,488,650
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 chr10:54,798,871...54,810,300
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: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 1 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5
ClinVar Annotator: match by term: Cutaneous Malignant Melanoma, Dominant | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: MELANOMA AND RENAL CELL CARCINOMA, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3
ClinVar Annotator: match by term: 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 1:150,527,687...150,622,857
Ensembl chr 1:141,115,036...141,210,207
JBrowse link
G Xrcc3 X-ray repair cross complementing 3 susceptibility ISO ClinVar Annotator: match by term: Cutaneous malignant melanoma 6 ClinVar
OMIM
PMID:11059748 PMID:28492532 NCBI chr 6:136,684,558...136,694,822
Ensembl chr 6:130,863,959...130,872,444
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19142
    disease of cellular proliferation 7892
      cancer 5722
        cell type cancer 3784
          melanoma 368
            skin melanoma 85
              acral lentiginous melanoma 0
              balloon cell malignant melanoma 0
              familial melanoma + 46
              malignant eyelid melanoma 0
              melanoma in congenital melanocytic nevus 0
              nodular malignant melanoma 0
              skin amelanotic melanoma 0
              spitzoid melanoma 0
              vulvar melanoma 0
Path 2
Term Annotations click to browse term
  disease 19142
    Pathological Conditions, Signs and Symptoms 13627
      Signs and Symptoms 11216
        Neurologic Manifestations 10451
          sensory system disease 7373
            skin disease 4318
              Skin Neoplasms 490
                skin cancer 254
                  skin melanoma 85
                    acral lentiginous melanoma 0
                    balloon cell malignant melanoma 0
                    familial melanoma + 46
                    malignant eyelid melanoma 0
                    melanoma in congenital melanocytic nevus 0
                    nodular malignant melanoma 0
                    skin amelanotic melanoma 0
                    spitzoid melanoma 0
                    vulvar melanoma 0
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