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
Accession: DOID:8923
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 ear melanoma; malignant lip melanoma; malignant lower limb melanoma; malignant melanoma of ear and/or external auricular canal; malignant melanoma of skin; malignant neck melanoma; malignant scalp melanoma; malignant trunk melanoma
narrow_synonym: malignant melanoma of skin of lower limb; malignant melanoma of skin of trunk except scrotum; malignant melanoma of skin of upper limb; malignant upper limb melanoma
xref: EFO:0000389 ; ICD10CM:C43.9 ; ICD9CM:172.9 ; NCI:C3510
For additional species annotation, visit the
Alliance of Genome Resources .
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AFF4
ALF transcription elongation factor 4
disease_progression
ISO
RGD
PMID:33417923
RGD:155631266
NCBI chr11:21,157,790...21,218,750
Ensembl chr11:21,163,398...21,218,190
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AGT
angiotensinogen
ISO
protein:increased expression:serum
RGD
PMID:19394758
RGD:8548874
NCBI chr 4:8,681,192...8,694,059
Ensembl chr 4:8,683,798...8,693,880
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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 PMID:18954143 PMID:19418217 PMID:19487299 PMID:19853286 PMID:20233444 PMID:20453058 PMID:21464312 PMID:21512767 PMID:21793738 PMID:22538770 PMID:22610119 PMID:22722201 PMID:22722839 PMID:22980975 PMID:23237847 PMID:23348505 PMID:23700467 PMID:23728071 PMID:23934607 PMID:24190505 PMID:24657128 PMID:25157968 PMID:25741868 PMID:26619011 PMID:28492532 More...
NCBI chr 8:72,317,399...72,335,686
Ensembl chr 8:72,317,869...72,335,193
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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:41,180,082...41,191,579
Ensembl chr X:41,180,250...41,191,310
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ARHGAP44
Rho GTPase activating protein 44
severity
ISO
DNA:SNP:intron: (rs72635537) (human)
RGD
PMID:28510328
RGD:401901274
NCBI chr 5:36,790,059...36,957,932
Ensembl chr 5:36,789,814...36,957,411
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B2M
beta-2-microglobulin
ISO
ClinVar Annotator: match by term: Cutaneous melanoma
ClinVar
PMID:26619011
NCBI chr30:11,331,574...11,337,991
Ensembl chr30:11,331,569...11,337,997
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BCL2L12
BCL2 like 12
ISO
ClinVar Annotator: match by term: Cutaneous melanoma
ClinVar
PMID:26619011
NCBI chr 1:106,865,346...106,873,329
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BIRC2
baculoviral IAP repeat containing 2
exacerbates
ISO
mRNA:increased expression:zone of skin (human)
RGD
PMID:31964418
RGD:153344516
NCBI chr 5:29,294,080...29,314,837
Ensembl chr 5:29,294,692...29,312,771
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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 PMID:12460918 PMID:12460919 PMID:12619120 PMID:12644542 PMID:12670889 PMID:12794760 PMID:12960123 PMID:14513361 PMID:14602780 PMID:14612909 PMID:14679157 PMID:14688025 PMID:15001635 PMID:15035987 PMID:15126572 PMID:15181070 PMID:15342696 PMID:15356022 PMID:15386408 PMID:15687339 PMID:15998781 PMID:16015629 PMID:16174717 PMID:16187918 PMID:16439621 PMID:16474404 PMID:16772349 PMID:17096326 PMID:17119447 PMID:17311103 PMID:17366577 PMID:17374713 PMID:17488796 PMID:17551924 PMID:17603483 PMID:17703371 PMID:17785355 PMID:18039235 PMID:18042262 PMID:18186519 PMID:18368129 PMID:18398503 PMID:18413255 PMID:18456719 PMID:18794803 PMID:18854871 PMID:19001320 PMID:19010912 PMID:19018267 PMID:19206169 PMID:19238210 PMID:19376813 PMID:19383316 PMID:19404918 PMID:19537845 PMID:19561230 PMID:19571295 PMID:19913317 PMID:20008640 PMID:20350999 PMID:20395089 PMID:20413299 PMID:20619739 PMID:20630094 PMID:20818844 PMID:20823850 PMID:20857202 PMID:21062266 PMID:21107320 PMID:21107323 PMID:21129611 PMID:21156289 PMID:21163703 PMID:21426297 PMID:21483012 PMID:21502544 PMID:21639808 PMID:21641636 PMID:21683865 PMID:21784453 PMID:21871821 PMID:21975775 PMID:22038996 PMID:22039425 PMID:22048237 PMID:22113612 PMID:22180495 PMID:22281684 PMID:22301711 PMID:22310681 PMID:22351686 PMID:22356324 PMID:22389471 PMID:22448344 PMID:22495831 PMID:22536370 PMID:22586120 PMID:22608338 PMID:22649091 PMID:22663011 PMID:22735384 PMID:22743296 PMID:22773810 PMID:22798288 PMID:22805292 PMID:22972589 PMID:22997239 PMID:23020132 PMID:23031422 PMID:23251002 PMID:23273605 PMID:23302800 PMID:23312806 PMID:23325582 PMID:23352452 PMID:23470635 PMID:23524406 PMID:23549875 PMID:23564332 PMID:23614898 PMID:23685455 PMID:23715574 PMID:23812671 PMID:23833300 PMID:23845441 PMID:23918947 PMID:23975261 PMID:24033266 PMID:24088041 PMID:24107445 PMID:24112392 PMID:24163374 PMID:24303953 PMID:24388723 PMID:24409384 PMID:24446311 PMID:24451042 PMID:24508103 PMID:24512911 PMID:24524299 PMID:24576830 PMID:24583796 PMID:24586605 PMID:24594804 PMID:24670642 PMID:24717435 PMID:24719372 PMID:24775816 PMID:24920063 PMID:25024077 PMID:25035421 PMID:25037139 PMID:25079330 PMID:25157968 PMID:25265492 PMID:25265494 PMID:25370471 PMID:25399551 PMID:25463315 PMID:25741868 PMID:25741916 PMID:25950823 PMID:25989278 PMID:26242988 PMID:26472072 PMID:26619011 PMID:26633545 PMID:26678033 PMID:27146152 PMID:27236105 PMID:27276561 PMID:27322245 PMID:27404270 PMID:27478040 PMID:27480103 PMID:28404629 PMID:28492532 PMID:28687512 PMID:28832562 PMID:28854169 PMID:28891408 PMID:29453417 PMID:29595366 PMID:29907801 PMID:29925953 PMID:30986545 PMID:31277584 PMID:31336229 PMID:31779674 PMID:31891627 PMID:34476331 More...
NCBI chr16:8,222,909...8,318,179
Ensembl chr16:8,222,907...8,317,906
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BRCA2
BRCA2 DNA repair associated
disease_progression
ISO
DNA:SNP: :rs206118, rs3752447, rs10492396 (human)
RGD
PMID:25243787
RGD:11344896
NCBI chr25:7,734,450...7,797,851
Ensembl chr25:7,734,453...7,797,815
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CCL2
C-C motif chemokine ligand 2
disease_progression
ISO
DNA:SNP: :2578A>G (human)
RGD
PMID:17169533
RGD:9491398
NCBI chr 9:39,008,187...39,009,932
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CD40
CD40 molecule
disease_progression
ISO
RGD
PMID:8952530
RGD:8547772
NCBI chr24:33,352,992...33,383,488
Ensembl chr24:33,372,930...33,383,301
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CDK4
cyclin dependent kinase 4
ISO
ClinVar Annotator: match by term: Malignant melanoma of skin
ClinVar
PMID:5377176 PMID:7652577 PMID:8528263 PMID:8968104 PMID:9228064 PMID:9425228 PMID:11756559 PMID:15880589 PMID:21801156 PMID:22804906 PMID:23384855 PMID:23546221 PMID:24256466 PMID:25157968 PMID:25741868 PMID:26619011 PMID:28492532 PMID:29774366 More...
NCBI chr10:1,812,864...1,815,815
Ensembl chr10:1,812,886...1,815,789
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CDKN2A
cyclin dependent kinase inhibitor 2A
ISO
ClinVar Annotator: match by term: Cutaneous melanoma | ClinVar Annotator: match by term: Malignant melanoma of skin
ClinVar
PMID:7777060 PMID:7777061 PMID:7780957 PMID:8521414 PMID:8573142 PMID:8595405 PMID:8668202 PMID:8723678 PMID:8755727 PMID:8834170 PMID:9053859 PMID:9324288 PMID:9328469 PMID:9536098 PMID:9660926 PMID:9710613 PMID:9751050 PMID:9823374 PMID:9856841 PMID:10491434 PMID:11078762 PMID:11358797 PMID:11477665 PMID:11500805 PMID:11687599 PMID:12072543 PMID:12606942 PMID:14508519 PMID:15140233 PMID:15146471 PMID:16234564 PMID:16896043 PMID:16905682 PMID:17576681 PMID:17992122 PMID:18573309 PMID:20505745 PMID:21462282 PMID:21507037 PMID:24336570 PMID:25157968 PMID:25356972 PMID:25741868 PMID:26619011 PMID:26681309 PMID:26775776 PMID:28146043 PMID:28492532 PMID:28830827 PMID:29464027 PMID:29983899 PMID:30291219 PMID:30742731 PMID:32455486 PMID:35001868 More...
NCBI chr11:41,223,316...41,226,056
Ensembl chr11:41,223,315...41,264,379
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CHAF1B
chromatin assembly factor 1 subunit B
severity
ISO
protein:increased expression:skin:
RGD
PMID:20178651
RGD:9587476
NCBI chr31:31,599,840...31,620,436
Ensembl chr31:31,600,448...31,619,784
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CNOT9
CCR4-NOT transcription complex subunit 9
ISO
ClinVar Annotator: match by term: Malignant melanoma of skin
ClinVar
PMID:25741868 PMID:26619011
NCBI chr37:25,186,928...25,213,255
Ensembl chr37:25,187,066...25,212,642
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CREBBP
CREB binding protein
ISO
ClinVar Annotator: match by term: Cutaneous melanoma
ClinVar
PMID:21390126 PMID:21680795 PMID:21796119 PMID:22832583 PMID:23334668 PMID:23685749 PMID:23778141 PMID:26087898 PMID:26619011 PMID:27257180 PMID:28492532 PMID:28970362 PMID:29551561 PMID:33560380 More...
NCBI chr 6:37,410,201...37,536,688
Ensembl chr 6:37,409,930...37,534,176
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CRNKL1
crooked neck pre-mRNA splicing factor 1
ISO
ClinVar Annotator: match by term: Cutaneous melanoma
ClinVar
PMID:26619011
NCBI chr24:3,294,607...3,310,846
Ensembl chr24:3,294,616...3,310,702
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CTCF
CCCTC-binding factor
ISO
DNA:mutations:multiple (human)
RGD
PMID:27974201
RGD:151356739
NCBI chr 5:81,808,512...81,863,811
Ensembl chr 5:81,809,393...81,858,655
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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 PMID:10027390 PMID:10192393 PMID:10398436 PMID:10435629 PMID:10655994 PMID:10666372 PMID:11351304 PMID:11930117 PMID:11950921 PMID:12124804 PMID:15133491 PMID:19234609 PMID:23265383 PMID:24788118 PMID:25157968 PMID:25741868 PMID:26619011 PMID:26822237 More...
NCBI chr23:10,559,722...10,572,933
Ensembl chr23:10,559,718...10,572,927
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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
RGD:151347864
NCBI chr12:653,800...671,190
Ensembl chr12:653,807...670,543
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DNMT3B
DNA methyltransferase 3 beta
disease_progression
ISO
RGD
PMID:21081840
RGD:9589074
NCBI chr24:22,096,386...22,123,378
Ensembl chr24:22,096,349...22,122,900
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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 chr 9:22,760,373...22,785,367
Ensembl chr 9:22,759,256...22,785,294
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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 chr16:1,926,443...1,991,995
Ensembl chr16:1,925,956...1,991,838
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FANCA
FA complementation group A
disease_progression
ISO
DNA:SNP: :rs62068372 (human)
RGD
PMID:25243787
RGD:11344896
NCBI chr 5:63,778,149...63,838,869
Ensembl chr 5:63,778,212...63,838,823
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FANCD2
FA complementation group D2
ISO
mRNA,protein:increased expression:skin,nucleus:
RGD
PMID:21697891
RGD:11046262
NCBI chr20:8,240,270...8,297,269
Ensembl chr20:8,240,311...8,297,568
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FBXW7
F-box and WD repeat domain containing 7
ISO
ClinVar Annotator: match by term: Cutaneous melanoma
ClinVar
PMID:25741868 PMID:26619011
NCBI chr15:50,187,579...50,417,188
Ensembl chr15:50,189,240...50,417,195
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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 PMID:22808163 PMID:24141786 PMID:25157968 PMID:25741868 PMID:26619011 More...
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GNAS
GNAS complex locus
ISO
ClinVar Annotator: match by term: Cutaneous melanoma | ClinVar Annotator: match by term: Malignant melanoma of skin
ClinVar
PMID:1517386 PMID:1594625 PMID:1944469 PMID:2549426 PMID:3720010 PMID:7739708 PMID:8766942 PMID:9626141 PMID:11093740 PMID:12727968 PMID:12970318 PMID:15126527 PMID:15952988 PMID:16507630 PMID:16543670 PMID:17873334 PMID:20197676 PMID:21835143 PMID:23403822 PMID:23536913 PMID:23843956 PMID:24855271 PMID:25157968 PMID:25719192 PMID:25741868 PMID:26619011 PMID:27398169 PMID:27506760 PMID:28492532 PMID:30702195 More...
NCBI chr24:43,643,409...43,658,641
Ensembl chr24:43,643,405...43,658,657
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GPX1
glutathione peroxidase 1
ISO
mRNA:increased expression:skin of body (human)
RGD
PMID:29535818
RGD:152023655
NCBI chr20:39,889,165...39,890,253
Ensembl chr20:39,889,174...39,890,260
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HIF1A
hypoxia inducible factor 1 subunit alpha
ISO
protein:increased expression:epidermis (human)
RGD
PMID:19558170
RGD:8695922
NCBI chr 8:36,614,045...36,656,692
Ensembl chr 8:36,614,045...36,656,692
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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 PMID:16170316 PMID:16329078 PMID:16372351 PMID:16443854 PMID:16835863 PMID:16881968 PMID:16969868 PMID:17054105 PMID:17211612 PMID:17384584 PMID:17412879 PMID:17601930 PMID:17979197 PMID:18039947 PMID:18042262 PMID:18247425 PMID:18978862 PMID:19206176 PMID:19213030 PMID:19255327 PMID:19371735 PMID:19382114 PMID:19669404 PMID:19773371 PMID:20660566 PMID:20859122 PMID:20937837 PMID:20979192 PMID:21438134 PMID:21495179 PMID:21686750 PMID:21834037 PMID:21850009 PMID:22087699 PMID:22256804 PMID:22317973 PMID:22420426 PMID:22495892 PMID:22499344 PMID:22683711 PMID:22726224 PMID:22926243 PMID:23093928 PMID:23096712 PMID:23406027 PMID:23429430 PMID:23751039 PMID:23884457 PMID:24006476 PMID:24033266 PMID:24129065 PMID:24169525 PMID:24224811 PMID:24390138 PMID:24803665 PMID:25157968 PMID:25326635 PMID:25695684 PMID:25741868 PMID:25815234 PMID:25914166 PMID:26467025 PMID:26619011 PMID:26778095 PMID:27195699 PMID:27283355 PMID:27444071 PMID:27589201 PMID:28027064 PMID:28139825 PMID:28492532 PMID:29493581 PMID:30055033 PMID:30138938 PMID:30191474 PMID:31394527 PMID:31560489 PMID:31564432 PMID:31775759 PMID:32371413 PMID:32732226 PMID:33027564 PMID:33372952 PMID:34008892 PMID:34958143 PMID:168335863 More...
NCBI chr18:25,642,844...25,644,717
Ensembl chr18:25,642,844...25,644,717
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ICAM1
intercellular adhesion molecule 1
disease_progression
ISO
DNA:missense mutation:exon:p.R241G (human)
RGD
PMID:16313300
RGD:8547698
NCBI chr20:50,818,715...50,827,914
Ensembl chr20:50,818,715...50,827,914
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IDH1
isocitrate dehydrogenase (NADP(+)) 1
ISO
ClinVar Annotator: match by term: Cutaneous melanoma
ClinVar
PMID:18772396 PMID:19657110 PMID:19798509 PMID:19818334 PMID:20946881 PMID:21352804 PMID:21446021 PMID:22160010 PMID:22397365 PMID:22417203 PMID:22898539 PMID:23558169 PMID:24606448 PMID:25043048 PMID:25157968 PMID:25741868 PMID:26619011 PMID:27993330 PMID:30231226 PMID:36201590 More...
NCBI chr37:16,512,027...16,531,269
Ensembl chr37:16,512,770...16,531,219
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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 PMID:15790786 PMID:16908931 PMID:17372901 PMID:17824795 PMID:18510589 PMID:18980976 PMID:20545949 PMID:22626674 PMID:23648119 PMID:25157968 PMID:26619011 PMID:28492532 PMID:29098070 More...
NCBI chr13:47,108,442...47,190,935
Ensembl chr13:47,108,504...47,190,029
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KNSTRN
kinetochore localized astrin (SPAG5) binding protein
ISO
ClinVar Annotator: match by term: Cutaneous melanoma
ClinVar
PMID:26619011
NCBI chr30:7,562,738...7,573,514
Ensembl chr30:7,562,807...7,572,950
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KRAS
KRAS proto-oncogene, GTPase
ISO
ClinVar Annotator: match by term: Cutaneous melanoma
ClinVar
PMID:2278970 PMID:3122217 PMID:12460918 PMID:15696205 PMID:16361624 PMID:16434492 PMID:16618717 PMID:18316791 PMID:18794081 PMID:19075190 PMID:19114683 PMID:19679400 PMID:20921462 PMID:20921465 PMID:21228335 PMID:22407852 PMID:22722830 PMID:23325582 PMID:25157968 PMID:26619011 PMID:30891959 More...
NCBI chr27:22,261,753...22,296,704
Ensembl chr27:22,257,941...22,293,369
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LOC488436
serine/threonine-protein kinase 19-like
ISO
ClinVar Annotator: match by term: Cutaneous melanoma
ClinVar
PMID:26619011
NCBI chr36:27,227,496...27,228,457
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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 PMID:16170316 PMID:16329078 PMID:16372351 PMID:16443854 PMID:16835863 PMID:16881968 PMID:16969868 PMID:17054105 PMID:17211612 PMID:17384584 PMID:17412879 PMID:17601930 PMID:17979197 PMID:18039947 PMID:18042262 PMID:18247425 PMID:18978862 PMID:19206176 PMID:19213030 PMID:19255327 PMID:19371735 PMID:19382114 PMID:19669404 PMID:19773371 PMID:20660566 PMID:20859122 PMID:20937837 PMID:20979192 PMID:21438134 PMID:21495179 PMID:21686750 PMID:21834037 PMID:21850009 PMID:22087699 PMID:22256804 PMID:22317973 PMID:22420426 PMID:22495892 PMID:22499344 PMID:22683711 PMID:22726224 PMID:22926243 PMID:23093928 PMID:23096712 PMID:23406027 PMID:23429430 PMID:23751039 PMID:23884457 PMID:24006476 PMID:24033266 PMID:24129065 PMID:24169525 PMID:24224811 PMID:24390138 PMID:24803665 PMID:25157968 PMID:25326635 PMID:25695684 PMID:25741868 PMID:25815234 PMID:25914166 PMID:26467025 PMID:26619011 PMID:26778095 PMID:27195699 PMID:27283355 PMID:27444071 PMID:27589201 PMID:28027064 PMID:28139825 PMID:28492532 PMID:29493581 PMID:30055033 PMID:30138938 PMID:30191474 PMID:31394527 PMID:31560489 PMID:31564432 PMID:31775759 PMID:32371413 PMID:32732226 PMID:33027564 PMID:33372952 PMID:34008892 PMID:34958143 PMID:168335863 More...
NCBI chr18:25,647,024...25,662,646
Ensembl chr18:25,647,882...25,664,220
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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 PMID:22588879 PMID:23444215 PMID:23569304 PMID:24033266 PMID:24803665 PMID:25157968 PMID:25741868 PMID:26343583 PMID:26619011 PMID:27862862 PMID:28049852 PMID:28492532 PMID:32005694 PMID:32978145 More...
NCBI chr30:30,683,192...30,760,479
Ensembl chr30:30,683,107...30,760,479
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MAP2K2
mitogen-activated protein kinase kinase 2
ISO
ClinVar Annotator: match by term: Malignant melanoma of skin
ClinVar
PMID:18042262 PMID:26619011
NCBI chr20:55,465,460...55,487,629
Ensembl chr20:55,465,212...55,487,641
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MIR21
microRNA mir-21
disease_progression
ISO
RNA:increased expression:skin (human)
RGD
PMID:26150475
RGD:11342032
NCBI chr 9:34,340,550...34,340,609
Ensembl chr 9:34,340,533...34,340,624
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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 5:28,978,385...28,986,644
Ensembl chr 5:28,978,473...28,986,648
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MMP2
matrix metallopeptidase 2
severity
ISO
mRNA:increased expression:skin
RGD
PMID:12404291 PMID:18251742 PMID:20966734
RGD:13204786 RGD:8657055 RGD:8657075
NCBI chr 2:60,471,092...60,492,991
Ensembl chr 2:60,471,257...60,494,113
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MMP9
matrix metallopeptidase 9
disease progression
ISO
DNA:SNP, missense mutations:promoter, cds:-1562C>T,p.R279Q, p.P574R (human)
RGD
PMID:12404291 PMID:17346338
RGD:13204786 RGD:8547886
NCBI chr24:33,274,260...33,281,116
Ensembl chr24:33,274,268...33,281,293
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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 PMID:27159400 PMID:27830187 More...
NCBI chr 2:84,818,893...84,939,283
Ensembl chr 2:84,787,708...84,939,114
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MYC
MYC proto-oncogene, bHLH transcription factor
ISO
ClinVar Annotator: match by term: Malignant melanoma of skin
ClinVar
PMID:25157968 PMID:26619011
NCBI chr13:25,200,772...25,205,309
Ensembl chr13:25,200,577...25,205,309
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NRAS
NRAS proto-oncogene, GTPase
ISO
ClinVar Annotator: match by term: Cutaneous melanoma
ClinVar
PMID:1654209 PMID:2278970 PMID:2407301 PMID:2674680 PMID:2989702 PMID:3102434 PMID:3122217 PMID:6587382 PMID:8120410 PMID:10598665 PMID:10821536 PMID:12460918 PMID:12727991 PMID:14508525 PMID:14982869 PMID:15046639 PMID:15831708 PMID:15899789 PMID:15951308 PMID:16273091 PMID:16291983 PMID:16434492 PMID:16518851 PMID:17332249 PMID:17384584 PMID:17517660 PMID:17671181 PMID:17699718 PMID:17823240 PMID:18375819 PMID:18390968 PMID:18633438 PMID:18668139 PMID:18794081 PMID:18948947 PMID:18952898 PMID:19047918 PMID:19075190 PMID:19657110 PMID:19775298 PMID:19880792 PMID:19966803 PMID:20130576 PMID:20149136 PMID:20179705 PMID:20406486 PMID:20619739 PMID:20736745 PMID:21079152 PMID:21107323 PMID:21263000 PMID:21305640 PMID:21576590 PMID:21586752 PMID:21729679 PMID:21829508 PMID:22144181 PMID:22220252 PMID:22407852 PMID:22499344 PMID:22718121 PMID:22761467 PMID:22773810 PMID:22962325 PMID:23076151 PMID:23134356 PMID:23325582 PMID:23334668 PMID:23392294 PMID:23400451 PMID:23414587 PMID:23431193 PMID:23515407 PMID:23538902 PMID:23569304 PMID:23614898 PMID:23708912 PMID:24006476 PMID:24033266 PMID:24148783 PMID:24284627 PMID:24370118 PMID:24671188 PMID:24806883 PMID:25157968 PMID:25348872 PMID:25695684 PMID:25741868 PMID:26619011 PMID:26821351 PMID:26980726 PMID:27050078 PMID:27069254 PMID:27121720 PMID:27276561 PMID:27993330 PMID:28098151 PMID:28492532 PMID:28594414 PMID:28780248 PMID:29692343 PMID:30417923 PMID:32888943 More...
NCBI chr17:52,411,733...52,418,788
Ensembl chr17:52,411,733...52,418,788
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OCA2
OCA2 melanosomal transmembrane protein
susceptibility
ISO
DNA:snps:exon, intron:multiple (human) DNA:missense mutation:cds:p.H615R (rs1800414) (human) DNA:snp:cds:p.R419Q (rs1800407) (human)
RGD
PMID:15889046 PMID:19710684 PMID:24617981
RGD:9491818 RGD:9491829 RGD:9491831
NCBI chr 3:32,361,825...32,713,631
Ensembl chr 3:32,361,517...32,713,572
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PDCD4
programmed cell death 4
disease_progression
ISO
mRNA:decreased expression:skin (human)
RGD
PMID:26150475
RGD:11342032
NCBI chr28:22,198,274...22,227,184
Ensembl chr28:22,198,322...22,226,717
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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 PMID:15805248 PMID:15930273 PMID:16353168 PMID:16906227 PMID:16930767 PMID:17376864 PMID:17673550 PMID:18371219 PMID:18676830 PMID:18725974 PMID:19029981 PMID:19223544 PMID:19366826 PMID:19513541 PMID:19671852 PMID:19903786 PMID:20177704 PMID:20453058 PMID:20593314 PMID:20619739 PMID:21078999 PMID:21430269 PMID:21558396 PMID:21824802 PMID:22162582 PMID:22162589 PMID:22271473 PMID:22370636 PMID:22658544 PMID:22729222 PMID:22729223 PMID:22729224 PMID:23066039 PMID:23100325 PMID:23408298 PMID:23888070 PMID:23946963 PMID:24033266 PMID:24265155 PMID:24782230 PMID:25157968 PMID:25599672 PMID:25741868 PMID:25880439 PMID:26266975 PMID:26266985 PMID:26619011 PMID:26627007 PMID:26637981 PMID:26822237 PMID:27126994 PMID:27626068 PMID:27631024 PMID:28151489 PMID:28425981 PMID:28492532 PMID:29446767 PMID:29661094 PMID:29988677 PMID:30376034 PMID:30543347 PMID:31536475 PMID:31568861 PMID:31775759 PMID:32778138 PMID:34008892 PMID:34496175 PMID:37712948 More...
NCBI chr34:12,600,140...12,681,905
Ensembl chr34:12,600,233...12,675,910
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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 2:53,447,802...53,527,563
Ensembl chr 2:53,448,286...53,524,970
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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 PMID:30586141 PMID:34193977 PMID:36876055 PMID:37140166 More...
NCBI chr14:10,987,385...11,067,473
Ensembl chr14:10,987,494...11,066,956
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PPP6C
protein phosphatase 6 catalytic subunit
ISO
ClinVar Annotator: match by term: Malignant melanoma of skin
ClinVar
PMID:26619011
NCBI chr 9:57,884,035...57,921,080
Ensembl chr 5:43,094,942...43,095,395 Ensembl chr 9:43,094,942...43,095,395
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PTEN
phosphatase and tensin homolog
ISO
ClinVar Annotator: match by term: Cutaneous melanoma
ClinVar
PMID:1945792 PMID:9467011 PMID:9915974 PMID:10866302 PMID:11051241 PMID:11504908 PMID:11875759 PMID:11948419 PMID:16773562 PMID:17526801 PMID:17942903 PMID:18767981 PMID:19457929 PMID:20085938 PMID:20300775 PMID:20301661 PMID:20926450 PMID:21190448 PMID:21194675 PMID:21659347 PMID:21822720 PMID:21824802 PMID:21828076 PMID:22266152 PMID:22320991 PMID:22327138 PMID:22595938 PMID:23335809 PMID:23361946 PMID:23399955 PMID:23470840 PMID:24292679 PMID:24778394 PMID:25157968 PMID:25527629 PMID:25741868 PMID:26619011 PMID:26798346 PMID:27477328 PMID:27535533 PMID:28475857 PMID:28492532 PMID:28677221 PMID:29359449 PMID:29706350 PMID:30311380 PMID:30528446 PMID:31159747 PMID:32350270 PMID:32442409 PMID:33077954 More...
NCBI chr26:37,853,148...37,913,176
Ensembl chr26:37,835,661...37,913,176
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RAC1
Rac family small GTPase 1
ISO
ClinVar Annotator: match by term: Cutaneous melanoma
ClinVar
PMID:25056119 PMID:26619011
NCBI chr 6:11,726,259...11,758,532
Ensembl chr 6:11,655,494...11,757,216
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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 PMID:19953625 PMID:20052757 PMID:20301557 PMID:21440552 PMID:21784453 PMID:22389993 PMID:23312806 PMID:23321623 PMID:23877478 PMID:24033266 PMID:24775816 PMID:24803665 PMID:25706034 PMID:25741868 PMID:26619011 PMID:26918529 PMID:27631234 PMID:28492532 PMID:28777121 PMID:28973083 PMID:28991257 PMID:29084544 PMID:29493581 PMID:29907801 PMID:30055033 PMID:30105547 PMID:30138938 PMID:30384889 PMID:30417923 PMID:30732632 PMID:31324109 PMID:31395954 PMID:31560489 PMID:32410215 PMID:32506814 PMID:32573669 PMID:32668055 PMID:32981126 PMID:33240318 PMID:33318624 PMID:33673806 PMID:34006472 PMID:34136434 PMID:35050212 More...
NCBI chr20:5,892,839...5,972,672
Ensembl chr20:5,892,834...5,972,090
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SF3B1
splicing factor 3b subunit 1
ISO
ClinVar Annotator: match by term: Malignant melanoma of skin
ClinVar
PMID:23634996 PMID:25741868 PMID:26619011
NCBI chr37:6,922,150...6,962,474
Ensembl chr37:6,924,047...6,962,896
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SF3B2
splicing factor 3b subunit 2
ISO
ClinVar Annotator: match by term: Malignant melanoma of skin
ClinVar
PMID:26619011
NCBI chr18:51,197,924...51,212,397
Ensembl chr18:51,197,939...51,212,354
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SLC45A2
solute carrier family 45 member 2
ISO
ClinVar Annotator: match by term: Malignant melanoma of skin
ClinVar
PMID:15714523 PMID:17044855 PMID:17999355 PMID:18563784 PMID:18683857 PMID:19578363 PMID:28492532 More...
NCBI chr 4:73,838,684...73,868,222
Ensembl chr 4:73,815,291...73,867,437
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STAT3
signal transducer and activator of transcription 3
disease_progression
ISO
RGD
PMID:21876460
RGD:8694297
NCBI chr 9:20,539,660...20,614,631
Ensembl chr 9:20,539,697...20,612,672
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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 PMID:24830819 PMID:25142776 PMID:25157968 PMID:25179843 PMID:25186627 PMID:25473901 PMID:25741868 PMID:25980754 PMID:26467025 PMID:26898890 PMID:26928227 PMID:26976419 PMID:27443514 PMID:27621404 PMID:28135145 PMID:28202063 PMID:28492532 PMID:28821472 PMID:28873162 PMID:29458332 More...
NCBI chr20:57,558,966...57,579,163
Ensembl chr20:57,559,424...57,579,118
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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 PMID:1569604 PMID:1631137 PMID:1631151 PMID:1673792 PMID:1683921 PMID:1686725 PMID:1915267 PMID:1978757 PMID:2046748 PMID:3784963 PMID:6736287 PMID:7651740 PMID:7707106 PMID:7732013 PMID:7881428 PMID:7885831 PMID:7887414 PMID:8023157 PMID:8062826 PMID:8080050 PMID:8099841 PMID:8118819 PMID:8164043 PMID:8336941 PMID:8344492 PMID:8364550 PMID:8401536 PMID:8402598 PMID:8423216 PMID:8425176 PMID:8464896 PMID:8479749 PMID:8527048 PMID:8633021 PMID:8688334 PMID:8718514 PMID:8825920 PMID:8829627 PMID:8829653 PMID:8869100 PMID:9049183 PMID:9150393 PMID:9242456 PMID:9290701 PMID:9399658 PMID:9399838 PMID:9407971 PMID:9472631 PMID:9546439 PMID:9569050 PMID:9572492 PMID:9598730 PMID:9632751 PMID:9662334 PMID:9667734 PMID:9704930 PMID:9825943 PMID:10064694 PMID:10089074 PMID:10411893 PMID:10432928 PMID:10519380 PMID:10567903 PMID:10589545 PMID:10616528 PMID:10713666 PMID:10761705 PMID:10797439 PMID:10864200 PMID:10871862 PMID:10914716 PMID:10922393 PMID:11051239 PMID:11139324 PMID:11180592 PMID:11313981 PMID:11370630 PMID:11429705 PMID:11479205 PMID:11593407 PMID:11668501 PMID:11782540 PMID:11793474 PMID:11896595 PMID:11920788 PMID:11920959 PMID:12007217 PMID:12034820 PMID:12124823 PMID:12509279 PMID:12672316 PMID:12702523 PMID:12726864 PMID:12826609 PMID:12909720 PMID:12917626 PMID:14559903 PMID:14584079 PMID:14743206 PMID:15004724 PMID:15017592 PMID:15037740 PMID:15077194 PMID:15138567 PMID:15381368 PMID:15390294 PMID:15541116 PMID:15580553 PMID:15607980 PMID:15607981 PMID:15722483 PMID:15825182 PMID:15850016 PMID:15925506 PMID:15951970 PMID:15958617 PMID:15977174 PMID:15982667 PMID:15993273 PMID:16206219 PMID:16209708 PMID:16258005 PMID:16288208 PMID:16312222 PMID:16322298 PMID:16401470 PMID:16474844 PMID:16489069 PMID:16494995 PMID:16508005 PMID:16633321 PMID:16682957 PMID:16736287 PMID:16741917 PMID:16778209 PMID:16793544 PMID:16818505 PMID:16827139 PMID:16861262 PMID:17015838 PMID:17308077 PMID:17311302 PMID:17390010 PMID:17401428 PMID:17417627 PMID:17427234 PMID:17530187 PMID:17540308 PMID:17541742 PMID:17567834 PMID:17572079 PMID:17606709 PMID:17636407 PMID:17724467 PMID:17875924 PMID:17881637 PMID:18208484 PMID:18307025 PMID:18453682 PMID:18511570 PMID:18555592 PMID:18685109 PMID:18818522 PMID:18937320 PMID:18978813 PMID:19012332 PMID:19101993 PMID:19147582 PMID:19171880 PMID:19336573 PMID:19378321 PMID:19454241 PMID:19462533 PMID:19468865 PMID:19556618 PMID:19681600 PMID:19834951 PMID:19850740 PMID:19913028 PMID:20013323 PMID:20028212 PMID:20113312 PMID:20127978 PMID:20128691 PMID:20182602 PMID:20195489 PMID:20234365 PMID:20407015 PMID:20505364 PMID:20506564 PMID:20516128 PMID:20522432 PMID:20593220 PMID:20693561 PMID:20805372 PMID:20972454 PMID:21059199 PMID:21113594 PMID:21118481 PMID:21159183 PMID:21187651 PMID:21232794 PMID:21305319 PMID:21343334 PMID:21356188 PMID:21445056 PMID:21484931 PMID:21514416 PMID:21519010 PMID:21522129 PMID:21535297 PMID:21552135 PMID:21590121 PMID:21601526 PMID:21626334 PMID:21674059 PMID:21760960 PMID:21760996 PMID:21761402 PMID:22006311 PMID:22110706 PMID:22114072 PMID:22186996 PMID:22198284 PMID:22233476 PMID:22265402 PMID:22427690 PMID:22484423 PMID:22553421 PMID:22672556 PMID:22713868 PMID:22811390 PMID:22822097 PMID:22869713 PMID:22887876 PMID:22899716 PMID:22915647 PMID:22919068 PMID:22923379 PMID:22955915 PMID:22983585 PMID:22999923 PMID:23031740 PMID:23124483 PMID:23161690 PMID:23172776 PMID:23246812 PMID:23259501 PMID:23263379 PMID:23264849 PMID:23265383 PMID:23334668 PMID:23340422 PMID:23484829 PMID:23538418 PMID:23625637 PMID:23630318 PMID:23667202 PMID:23713777 PMID:23792586 PMID:23894400 PMID:23950206 PMID:23967324 PMID:24033266 PMID:24038938 PMID:24065105 PMID:24076587 PMID:24381225 PMID:24384472 PMID:24487413 PMID:24501221 PMID:24573247 PMID:24603336 PMID:24641375 PMID:24651012 PMID:24651015 PMID:24677579 PMID:24702488 PMID:24728327 PMID:24744791 PMID:24810334 PMID:24857548 PMID:25157968 PMID:25186627 PMID:25256166 PMID:25293557 PMID:25339994 PMID:25404506 PMID:25428789 PMID:25433984 PMID:25503501 PMID:25525159 PMID:25584008 PMID:25584637 PMID:25612911 PMID:25619955 PMID:25741868 PMID:25757876 PMID:25787918 PMID:25896519 PMID:25925845 PMID:25927356 PMID:25952993 PMID:25980754 PMID:26014290 PMID:26022348 PMID:26024390 PMID:26230955 PMID:26270727 PMID:26332594 PMID:26425688 PMID:26467025 PMID:26497680 PMID:26556299 PMID:26585234 PMID:26619011 PMID:26681312 PMID:26787237 PMID:26822237 PMID:26845104 PMID:26878390 PMID:26911350 PMID:26976419 PMID:27022024 PMID:27077130 PMID:27149858 PMID:27179933 PMID:27189670 PMID:27276561 PMID:27328919 PMID:27374712 PMID:27458004 PMID:27463065 PMID:27489289 PMID:27493922 PMID:27523101 PMID:27533082 PMID:27616075 PMID:27680515 PMID:27683180 PMID:27714481 PMID:27724982 PMID:27730344 PMID:27895058 PMID:27911860 PMID:27959731 PMID:27993330 PMID:28135145 PMID:28152038 PMID:28176830 PMID:28279309 PMID:28369373 PMID:28453743 PMID:28472496 PMID:28477316 PMID:28492532 PMID:28724667 PMID:28802053 PMID:28861920 PMID:28873162 PMID:28975465 PMID:29025599 PMID:29058119 PMID:29070607 PMID:29076966 PMID:29126202 PMID:29324801 PMID:29470806 PMID:29478780 PMID:29489754 PMID:29581140 PMID:29752822 PMID:29753700 PMID:29979965 PMID:30076369 PMID:30128536 PMID:30152528 PMID:30216591 PMID:30224644 PMID:30287823 PMID:30299350 PMID:30306255 PMID:30311369 PMID:30327374 PMID:30352134 PMID:30450585 PMID:30630526 PMID:30675318 PMID:30709381 PMID:30720243 PMID:30730202 PMID:30816478 PMID:30840781 PMID:31016814 PMID:31081129 PMID:31105275 PMID:31119730 PMID:31127191 PMID:31206626 PMID:31296311 PMID:31748977 PMID:31775759 PMID:31882575 PMID:32000721 PMID:32019277 PMID:32164171 PMID:32187361 PMID:32318955 PMID:32475984 PMID:32658383 PMID:32817165 PMID:32906206 PMID:32980694 PMID:33087929 PMID:33138793 PMID:33208383 PMID:33245408 PMID:33257846 PMID:33300245 PMID:33332384 PMID:33372952 PMID:33407742 PMID:33471991 PMID:33633026 PMID:33758026 PMID:33818021 PMID:34026625 PMID:34240179 PMID:34266904 PMID:34675114 PMID:34793666 PMID:34805717 PMID:35033608 PMID:35127508 PMID:35820297 PMID:35938033 PMID:36988593 More...
NCBI chr 5:32,561,406...32,565,149
Ensembl chr 5:32,560,598...32,574,109
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TP73
tumor protein p73
ISO
mRNA:increased expression:skin of body (human)
RGD
PMID:30420492
RGD:151347580
NCBI chr 5:58,194,385...58,241,159
Ensembl chr 5:58,187,826...58,240,839
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TYR
tyrosinase
susceptibility
ISO
DNA:missense mutation:cds:p.R402Q(human)
RGD
PMID:21906913
RGD:8694390
NCBI chr21:10,799,940...10,894,187
Ensembl chr21:10,799,940...10,894,191
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VDR
vitamin D receptor
no_association susceptibility
ISO
DNA:SNPs: :multiple DNA:missense mutation, silent mutation: :p,M1T, p.I352 (c.1056T>C) (rs2228570, rs731236) (human)
RGD
PMID:16990805 PMID:19615888 PMID:22576141
RGD:8157629 RGD:8158071 RGD:8158075
NCBI chr27:6,852,915...6,909,466
Ensembl chr27:6,852,723...6,909,470
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AGAP2
ArfGAP with GTPase domain, ankyrin repeat and PH domain 2
ISO
ClinVar Annotator: match by term: Familial melanoma
ClinVar
PMID:28492532
NCBI chr10:1,791,273...1,807,710
Ensembl chr10:1,792,733...1,807,610
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ARHGAP9
Rho GTPase activating protein 9
ISO
ClinVar Annotator: match by term: Familial melanoma
ClinVar
PMID:28492532
NCBI chr10:1,576,114...1,583,611
G
ARHGEF25
Rho guanine nucleotide exchange factor 25
ISO
ClinVar Annotator: match by term: Familial melanoma
ClinVar
PMID:28492532
NCBI chr10:1,687,519...1,694,487
Ensembl chr10:1,687,513...1,695,238
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B4GALNT1
beta-1,4-N-acetyl-galactosaminyltransferase 1
ISO
ClinVar Annotator: match by term: Familial melanoma
ClinVar
PMID:28492532
NCBI chr10:1,703,846...1,756,837
Ensembl chr10:1,703,169...1,709,994
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BAP1
BRCA1 associated protein 1
ISO
ClinVar Annotator: match by term: Familial melanoma
ClinVar
PMID:21874000 PMID:23684012 PMID:25741868 PMID:28492532
NCBI chr20:37,355,499...37,364,298
Ensembl chr20:37,355,494...37,511,125
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BRAF
B-Raf proto-oncogene, serine/threonine kinase
ISO
ClinVar Annotator: match by term: MELANOMA AND RENAL CELL CARCINOMA, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 1
ClinVar OMIM
PMID:2500657 PMID:16439621 PMID:16474404 PMID:17366577 PMID:17551924 PMID:17703371 PMID:18039235 PMID:18042262 PMID:18413255 PMID:18456719 PMID:18854871 PMID:19206169 PMID:19376813 PMID:20395089 PMID:21784453 PMID:21871821 PMID:22301711 PMID:22495831 PMID:23312806 PMID:23564332 PMID:23975261 PMID:24033266 PMID:24088041 PMID:24409384 PMID:24524299 PMID:24719372 PMID:24775816 PMID:25035421 PMID:25741868 PMID:26242988 PMID:26472072 PMID:26633545 PMID:27146152 PMID:27322245 PMID:27478040 PMID:28404629 PMID:28492532 PMID:28687512 PMID:30986545 More...
NCBI chr16:8,222,909...8,318,179
Ensembl chr16:8,222,907...8,317,906
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: 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 PMID:9311594 PMID:9425228 PMID:9536098 PMID:10398427 PMID:11756559 PMID:11828258 PMID:14621993 PMID:15880589 PMID:16201750 PMID:17576681 PMID:19139070 PMID:19690981 PMID:19888216 PMID:20668451 PMID:21520333 PMID:21801156 PMID:22804906 PMID:22932448 PMID:23384855 PMID:23546221 PMID:23718828 PMID:23737759 PMID:24162924 PMID:24256466 PMID:24321989 PMID:24728327 PMID:24755471 PMID:25157968 PMID:25186627 PMID:25305755 PMID:25318351 PMID:25344691 PMID:25416956 PMID:25741868 PMID:25980754 PMID:26252490 PMID:26467025 PMID:26534844 PMID:26580448 PMID:26619011 PMID:26800492 PMID:26976419 PMID:27640074 PMID:27978560 PMID:27997549 PMID:28060055 PMID:28135145 PMID:28166811 PMID:28380455 PMID:28492532 PMID:28640387 PMID:28726808 PMID:29625052 PMID:29641532 PMID:29774366 PMID:29917049 PMID:30093976 PMID:30374176 PMID:30426508 PMID:30851086 PMID:31118792 PMID:31159747 PMID:31570899 PMID:31784493 PMID:32645390 PMID:32980694 PMID:34130653 PMID:34285288 PMID:34326862 PMID:35264596 PMID:36095024 PMID:36243179 PMID:36816543 More...
NCBI chr10:1,812,864...1,815,815
Ensembl chr10:1,812,886...1,815,789
G
CDKN2A
cyclin dependent kinase inhibitor 2A
ISO
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: 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 PMID:2677576 PMID:2813514 PMID:5001868 PMID:6307646 PMID:7566978 PMID:7569991 PMID:7614482 PMID:7624155 PMID:7632931 PMID:7640518 PMID:7647780 PMID:7666917 PMID:7670475 PMID:7718873 PMID:7777060 PMID:7777061 PMID:7780957 PMID:7796400 PMID:7881419 PMID:7882348 PMID:7923152 PMID:7970734 PMID:7972006 PMID:7987387 PMID:7987388 PMID:8012957 PMID:8023167 PMID:8060323 PMID:8153634 PMID:8213823 PMID:8521414 PMID:8552158 PMID:8552400 PMID:8561866 PMID:8570179 PMID:8573142 PMID:8595405 PMID:8595411 PMID:8603820 PMID:8631588 PMID:8653684 PMID:8668202 PMID:8710906 PMID:8723678 PMID:8727306 PMID:8755727 PMID:8834170 PMID:8841025 PMID:8880901 PMID:8910511 PMID:9036865 PMID:9049826 PMID:9053859 PMID:9132280 PMID:9133447 PMID:9166859 PMID:9168184 PMID:9185756 PMID:9212218 PMID:9324288 PMID:9328469 PMID:9366518 PMID:9389568 PMID:9416844 PMID:9425228 PMID:9439668 PMID:9473234 PMID:9516223 PMID:9536098 PMID:9603434 PMID:9622062 PMID:9660926 PMID:9699728 PMID:9710613 PMID:9751050 PMID:9782052 PMID:9808520 PMID:9823374 PMID:9856796 PMID:9856841 PMID:9916806 PMID:9935245 PMID:10070944 PMID:10229204 PMID:10338331 PMID:10360174 PMID:10389768 PMID:10390011 PMID:10398427 PMID:10400925 PMID:10491434 PMID:10498896 PMID:10508477 PMID:10620111 PMID:10627132 PMID:10667595 PMID:10719365 PMID:10738302 PMID:10854221 PMID:10861313 PMID:10869234 PMID:10871849 PMID:10874641 PMID:10892805 PMID:10922411 PMID:10951521 PMID:10956390 PMID:11008905 PMID:11058911 PMID:11075991 PMID:11078762 PMID:11113205 PMID:11136714 PMID:11156381 PMID:11319798 PMID:11358797 PMID:11360201 PMID:11433531 PMID:11477665 PMID:11500805 PMID:11506491 PMID:11511321 PMID:11518711 PMID:11556834 PMID:11571653 PMID:11579459 PMID:11595726 PMID:11687599 PMID:11726555 PMID:11807902 PMID:11815963 PMID:12001124 PMID:12019208 PMID:12072543 PMID:12118338 PMID:12175554 PMID:12352668 PMID:12417040 PMID:12417717 PMID:12454511 PMID:12461329 PMID:12485439 PMID:12517341 PMID:12532425 PMID:12538475 PMID:12549483 PMID:12556369 PMID:12606942 PMID:12614625 PMID:12673200 PMID:12700603 PMID:12853981 PMID:12894891 PMID:12920094 PMID:12950144 PMID:14506702 PMID:14508519 PMID:14584079 PMID:14646619 PMID:14646620 PMID:14679123 PMID:14722037 PMID:14735200 PMID:14745721 PMID:15009729 PMID:15075790 PMID:15122588 PMID:15140233 PMID:15140239 PMID:15146471 PMID:15150307 PMID:15173226 PMID:15235029 PMID:15298727 PMID:15304098 PMID:15705881 PMID:15761864 PMID:15856016 PMID:15860862 PMID:15863662 PMID:15937071 PMID:15945100 PMID:16032697 PMID:16169933 PMID:16171945 PMID:16172233 PMID:16199547 PMID:16214921 PMID:16234564 PMID:16307646 PMID:16354195 PMID:16374456 PMID:16397522 PMID:16470311 PMID:16614725 PMID:16818274 PMID:16893909 PMID:16896043 PMID:16905682 PMID:17001621 PMID:17047042 PMID:17055252 PMID:17167857 PMID:17171691 PMID:17218939 PMID:17255954 PMID:17276542 PMID:17370310 PMID:17397031 PMID:17440112 PMID:17492760 PMID:17576681 PMID:17624602 PMID:17625456 PMID:17713569 PMID:17890059 PMID:17909018 PMID:17992122 PMID:18023021 PMID:18024887 PMID:18025365 PMID:18178632 PMID:18205010 PMID:18257688 PMID:18299477 PMID:18335566 PMID:18337833 PMID:18363633 PMID:18445952 PMID:18519632 PMID:18538737 PMID:18573309 PMID:18612309 PMID:18714178 PMID:18803811 PMID:18813118 PMID:18843795 PMID:18951449 PMID:18981015 PMID:18983535 PMID:19043591 PMID:19141585 PMID:19158841 PMID:19260062 PMID:19260067 PMID:19320745 PMID:19331830 PMID:19360740 PMID:19484507 PMID:19500876 PMID:19523171 PMID:19571771 PMID:19690981 PMID:19712690 PMID:19725989 PMID:19741424 PMID:19759551 PMID:19799798 PMID:20093296 PMID:20132244 PMID:20340136 PMID:20340316 PMID:20505745 PMID:20522552 PMID:20526219 PMID:20539244 PMID:20653773 PMID:20876876 PMID:21085193 PMID:21150883 PMID:21325014 PMID:21462282 PMID:21503581 PMID:21507037 PMID:21609436 PMID:21610656 PMID:21614589 PMID:21619050 PMID:21672182 PMID:21801156 PMID:21893440 PMID:22292911 PMID:22364812 PMID:22368299 PMID:22440936 PMID:22447455 PMID:22561520 PMID:22636603 PMID:22703879 PMID:22804906 PMID:22841127 PMID:22911296 PMID:22995991 PMID:23187834 PMID:23190892 PMID:23371019 PMID:23613284 PMID:23687186 PMID:23757202 PMID:23897584 PMID:24012370 PMID:24033266 PMID:24163379 PMID:24185512 PMID:24336570 PMID:24436120 PMID:24569790 PMID:24659262 PMID:24660985 PMID:24728327 PMID:24733792 PMID:24737347 PMID:24935963 PMID:25023876 PMID:25064638 PMID:25078331 PMID:25149524 PMID:25157968 PMID:25186627 PMID:25227142 PMID:25294512 PMID:25318351 PMID:25326637 PMID:25353071 PMID:25356972 PMID:25370744 PMID:25372287 PMID:25479140 PMID:25503501 PMID:25685612 PMID:25741868 PMID:25780468 PMID:25787093 PMID:25803691 PMID:25813228 PMID:25846456 PMID:25877891 PMID:25980754 PMID:26062399 PMID:26104880 PMID:26205736 PMID:26206375 PMID:26223839 PMID:26225579 PMID:26295973 PMID:26333485 PMID:26381259 PMID:26467025 PMID:26474073 PMID:26483394 PMID:26489725 PMID:26498684 PMID:26542317 PMID:26557774 PMID:26581427 PMID:26601054 PMID:26619011 PMID:26650189 PMID:26650572 PMID:26658419 PMID:26670561 PMID:26681309 PMID:26775776 PMID:26800492 PMID:26827760 PMID:26845104 PMID:26876133 PMID:26892650 PMID:26907448 PMID:26976419 PMID:27045317 PMID:27077911 PMID:27083775 PMID:27095739 PMID:27181379 PMID:27267843 PMID:27287845 PMID:27352967 PMID:27443514 PMID:27473757 PMID:27519597 PMID:27568332 PMID:27621404 PMID:27626068 PMID:27701467 PMID:27756164 PMID:27804060 PMID:27960642 PMID:27978560 PMID:27993330 PMID:28060055 PMID:28120917 PMID:28135145 PMID:28146043 PMID:28166811 PMID:28188106 PMID:28218424 PMID:28410231 PMID:28440912 PMID:28454591 PMID:28492532 PMID:28521409 PMID:28528518 PMID:28592523 PMID:28599463 PMID:28640387 PMID:28717660 PMID:28726808 PMID:28765326 PMID:28767289 PMID:28818438 PMID:28830827 PMID:28830923 PMID:28866070 PMID:28873162 PMID:28944238 PMID:28979722 PMID:29036293 PMID:29091774 PMID:29110408 PMID:29263814 PMID:29316957 PMID:29360161 PMID:29464027 PMID:29506128 PMID:29533785 PMID:29541281 PMID:29543703 PMID:29641532 PMID:29642553 PMID:29661971 PMID:29684080 PMID:29700634 PMID:29758216 PMID:29774366 PMID:29915805 PMID:29922827 PMID:29945567 PMID:29961768 PMID:29983899 PMID:30038052 PMID:30039340 PMID:30086788 PMID:30093976 PMID:30113427 PMID:30207590 PMID:30218143 PMID:30274933 PMID:30291219 PMID:30303537 PMID:30339520 PMID:30443844 PMID:30548481 PMID:30709382 PMID:30742731 PMID:30967399 PMID:31001908 PMID:31159747 PMID:31169336 PMID:31382929 PMID:31432501 PMID:31468114 PMID:31517177 PMID:31567591 PMID:31721094 PMID:31775759 PMID:31856090 PMID:31921681 PMID:31980996 PMID:32113160 PMID:32191290 PMID:32221274 PMID:32455486 PMID:32482799 PMID:32655615 PMID:32659967 PMID:32941720 PMID:32957588 PMID:32980694 PMID:33050356 PMID:33134534 PMID:33309985 PMID:33322357 PMID:33436027 PMID:33753322 PMID:33766116 PMID:33823155 PMID:33939675 PMID:33945383 PMID:34028844 PMID:34069252 PMID:34069952 PMID:34099663 PMID:34369425 PMID:34426522 PMID:34573422 PMID:34646395 PMID:34664323 PMID:35001868 PMID:35029067 PMID:35171259 PMID:35264596 PMID:35446184 PMID:35566480 PMID:35777164 PMID:36139606 PMID:36315513 PMID:36969747 PMID:36988593 PMID:109563903 More...
NCBI chr11:41,223,316...41,226,056
Ensembl chr11:41,223,315...41,264,379
G
CDKN2B
cyclin dependent kinase inhibitor 2B
ISO
ClinVar Annotator: match by term: Familial melanoma
ClinVar
PMID:9622062 PMID:28492532
NCBI chr11:41,259,627...41,264,832
G
CYP27B1
cytochrome P450 family 27 subfamily B member 1
ISO
ClinVar Annotator: match by term: Familial melanoma
ClinVar
PMID:28492532
NCBI chr10:1,825,224...1,830,845
Ensembl chr10:1,826,046...1,829,911
G
DCTN2
dynactin subunit 2
ISO
ClinVar Annotator: match by term: Familial melanoma
ClinVar
PMID:28492532
NCBI chr10:1,620,702...1,634,385
Ensembl chr10:1,620,724...1,634,309
G
DDIT3
DNA damage inducible transcript 3
ISO
ClinVar Annotator: match by term: Familial melanoma
ClinVar
PMID:28492532
NCBI chr10:1,606,693...1,612,410
Ensembl chr10:1,606,693...1,611,303
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 chr20:37,364,836...37,441,486
Ensembl chr20:37,364,842...37,465,807
G
DTX3
deltex E3 ubiquitin ligase 3
ISO
ClinVar Annotator: match by term: Familial melanoma
ClinVar
PMID:28492532
NCBI chr10:1,684,394...1,687,244
Ensembl chr10:1,683,410...1,686,814
G
EEF1AKMT3
EEF1A lysine methyltransferase 3
ISO
ClinVar Annotator: match by term: Familial melanoma
ClinVar
PMID:28492532
NCBI chr10:1,833,759...1,842,646
G
FANCA
FA complementation group A
ISO
ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5
ClinVar
PMID:28492532
NCBI chr 5:63,778,149...63,838,869
Ensembl chr 5:63,778,212...63,838,823
G
GLI1
GLI family zinc finger 1
ISO
ClinVar Annotator: match by term: Familial melanoma
ClinVar
PMID:28492532
NCBI chr10:1,565,306...1,575,971
Ensembl chr10:1,565,244...1,575,982
G
INHBC
inhibin subunit beta C
ISO
ClinVar Annotator: match by term: Familial melanoma
ClinVar
PMID:28492532
NCBI chr10:1,546,654...1,558,631
Ensembl chr10:1,547,075...1,558,645
G
INHBE
inhibin subunit beta E
ISO
ClinVar Annotator: match by term: Familial melanoma
ClinVar
PMID:28492532
NCBI chr10:1,558,876...1,563,370
Ensembl chr10:1,559,770...1,562,885
G
KIF5A
kinesin family member 5A
ISO
ClinVar Annotator: match by term: Familial melanoma
ClinVar
PMID:28492532
NCBI chr10:1,637,007...1,666,790
Ensembl chr10:1,636,932...1,664,767
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 8:71,401,795...71,444,056
Ensembl chr 8:71,400,003...71,444,062
G
LOC607393
neurexophilin-4
ISO
ClinVar Annotator: match by term: Familial melanoma
ClinVar
PMID:28492532
NCBI chr10:1,348,634...1,353,930
Ensembl chr10:1,352,470...1,353,321
G
LRP1
LDL receptor related protein 1
ISO
ClinVar Annotator: match by term: Familial melanoma
ClinVar
PMID:28492532
NCBI chr10:1,260,256...1,341,705
Ensembl chr10:1,260,719...1,352,271
G
MARCHF9
membrane associated ring-CH-type finger 9
ISO
ClinVar Annotator: match by term: Familial melanoma
ClinVar
PMID:28492532
NCBI chr10:1,819,133...1,823,314
Ensembl chr10:1,819,258...1,821,995
G
MARS1
methionyl-tRNA synthetase 1
ISO
ClinVar Annotator: match by term: Familial melanoma
ClinVar
PMID:28492532
NCBI chr10:1,588,503...1,606,752
Ensembl chr10:1,588,875...1,606,750
G
MBD6
methyl-CpG binding domain protein 6
ISO
ClinVar Annotator: match by term: Familial melanoma
ClinVar
PMID:28492532
NCBI chr10:1,611,462...1,620,546
Ensembl chr10:1,613,643...1,619,745
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, 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 PMID:9032047 PMID:9302268 PMID:9571181 PMID:9665397 PMID:10403794 PMID:10631149 PMID:10733465 PMID:10816645 PMID:11030758 PMID:11254446 PMID:11487574 PMID:11511307 PMID:11707265 PMID:11933208 PMID:12687585 PMID:12839583 PMID:12851329 PMID:12876664 PMID:14757863 PMID:14961558 PMID:14975928 PMID:15221796 PMID:15957185 PMID:15979202 PMID:15994880 PMID:15998953 PMID:16172233 PMID:16280005 PMID:16309897 PMID:16463023 PMID:16567973 PMID:16595073 PMID:16601669 PMID:16645598 PMID:16809487 PMID:16982779 PMID:16988943 PMID:17072629 PMID:17279550 PMID:17316231 PMID:17434924 PMID:17496785 PMID:17616515 PMID:17952075 PMID:18067130 PMID:18366057 PMID:18402696 PMID:18795926 PMID:18803811 PMID:18839200 PMID:18983535 PMID:19194882 PMID:19269164 PMID:19320745 PMID:19338054 PMID:19493000 PMID:19585506 PMID:19656326 PMID:19710684 PMID:19799798 PMID:19924138 PMID:20043015 PMID:20158590 PMID:20457063 PMID:20629734 PMID:20876876 PMID:21128237 PMID:21430882 PMID:21672182 PMID:21749400 PMID:22079958 PMID:22095472 PMID:22095742 PMID:22493355 PMID:22547573 PMID:22854540 PMID:22978401 PMID:23312576 PMID:23360207 PMID:23384855 PMID:23522749 PMID:23647022 PMID:23711066 PMID:24033266 PMID:24045876 PMID:24238329 PMID:24335900 PMID:24439955 PMID:24617981 PMID:24660985 PMID:24982914 PMID:25268584 PMID:25284244 PMID:25631192 PMID:25736238 PMID:25741868 PMID:25794181 PMID:26103569 PMID:26197705 PMID:26389780 PMID:26389967 PMID:26546047 PMID:26800492 PMID:27084066 PMID:27229376 PMID:27473757 PMID:28166811 PMID:28242083 PMID:28492532 PMID:28869973 PMID:29340229 PMID:31382929 More...
NCBI chr 5:63,694,296...63,695,249
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METTL1
methyltransferase 1, tRNA methylguanosine
ISO
ClinVar Annotator: match by term: Familial melanoma
ClinVar
PMID:28492532
NCBI chr10:1,831,088...1,833,818
Ensembl chr10:1,831,091...1,833,868
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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, 8 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 PMID:17576681 PMID:20127975 PMID:22012259 PMID:22080950 PMID:22158021 PMID:23167872 PMID:23774529 PMID:23787126 PMID:23802662 PMID:24033266 PMID:24290354 PMID:24352080 PMID:24406078 PMID:24638154 PMID:24660985 PMID:24767713 PMID:25407435 PMID:25741868 PMID:25803691 PMID:25943250 PMID:25975176 PMID:26103950 PMID:26467025 PMID:26650189 PMID:26775776 PMID:26800492 PMID:26850479 PMID:26999813 PMID:27153395 PMID:27473757 PMID:27680874 PMID:28125078 PMID:28152038 PMID:28376192 PMID:28492532 PMID:28690485 PMID:28825054 PMID:29115496 PMID:29484430 PMID:29506128 PMID:29625052 PMID:29706638 PMID:30311386 PMID:30414346 PMID:31465090 PMID:32054529 PMID:32728090 PMID:33051548 PMID:33240314 PMID:34142234 PMID:34289891 PMID:34662886 PMID:34997062 PMID:36451132 More...
NCBI chr20:21,772,147...21,873,545
Ensembl chr20:21,612,927...21,870,578
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NDUFA4L2
NDUFA4 mitochondrial complex associated like 2
ISO
ClinVar Annotator: match by term: Familial melanoma
ClinVar
PMID:28492532
NCBI chr10:1,362,479...1,365,203
Ensembl chr10:1,362,577...1,364,515
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OS9
OS9 endoplasmic reticulum lectin
ISO
ClinVar Annotator: match by term: Familial melanoma
ClinVar
PMID:28492532
NCBI chr10:1,757,070...1,787,822
Ensembl chr10:1,757,103...1,787,203
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PIP4K2C
phosphatidylinositol-5-phosphate 4-kinase type 2 gamma
ISO
ClinVar Annotator: match by term: Familial melanoma
ClinVar
PMID:28492532
NCBI chr10:1,670,076...1,680,975
Ensembl chr10:1,672,380...1,680,840
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 AND RENAL CELL CARCINOMA, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 1 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 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 PMID:20307669 PMID:22406018 PMID:23502782 PMID:24686846 PMID:24686849 PMID:25244922 PMID:25482530 PMID:25640679 PMID:25741868 PMID:25877891 PMID:25934589 PMID:26365187 PMID:26403419 PMID:26467025 PMID:27013236 PMID:27239034 PMID:27329137 PMID:27365461 PMID:27528712 PMID:27869160 PMID:28166811 PMID:28389767 PMID:28393830 PMID:28393832 PMID:28492532 PMID:28592523 PMID:28853721 PMID:29036293 PMID:29522175 PMID:29523635 PMID:29625052 PMID:29641532 PMID:29693246 PMID:30414346 PMID:30451293 PMID:30523342 PMID:30556179 PMID:30586141 PMID:30975761 PMID:31919090 PMID:31937561 PMID:32033110 PMID:32155570 PMID:32191290 PMID:32325837 PMID:32449991 PMID:32720348 PMID:32907878 PMID:32987645 PMID:33050356 PMID:33054084 PMID:33119245 PMID:33216348 PMID:33525650 PMID:33782098 PMID:33941849 PMID:34193977 PMID:35727838 PMID:36539277 PMID:36876055 PMID:37140166 More...
NCBI chr14:10,987,385...11,067,473
Ensembl chr14:10,987,494...11,066,956
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R3HDM2
R3H domain containing 2
ISO
ClinVar Annotator: match by term: Familial melanoma
ClinVar
PMID:28492532
NCBI chr10:1,377,664...1,504,008
Ensembl chr10:1,370,350...1,504,017
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SHMT2
serine hydroxymethyltransferase 2
ISO
ClinVar Annotator: match by term: Familial melanoma
ClinVar
PMID:28492532
NCBI chr10:1,357,347...1,362,511
Ensembl chr10:1,356,706...1,362,305
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SPIRE2
spire type actin nucleation factor 2
ISO
ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5
ClinVar
PMID:28492532
NCBI chr 5:63,732,855...63,765,162
Ensembl chr 5:63,732,842...63,753,419
G
STAC3
SH3 and cysteine rich domain 3
ISO
ClinVar Annotator: match by term: Familial melanoma
ClinVar
PMID:28492532
NCBI chr10:1,370,340...1,377,769
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 PMID:11668633 PMID:15188174 PMID:16287113 PMID:16407837 PMID:17576681 PMID:19892943 PMID:23399955 PMID:25157968 PMID:25452441 PMID:25503501 PMID:25741868 PMID:25778705 PMID:25980754 PMID:26467025 PMID:26928227 PMID:26979979 PMID:27467201 PMID:28492532 PMID:28944238 PMID:29045518 PMID:30093976 PMID:30287823 PMID:30885352 PMID:32647375 PMID:33020649 PMID:33471991 PMID:34326862 PMID:34849607 PMID:35264596 More...
NCBI chr20:57,558,966...57,579,163
Ensembl chr20:57,559,424...57,579,118
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TCF25
transcription factor 25
ISO
ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5
ClinVar
PMID:28492532
NCBI chr 5:63,697,627...63,729,780
Ensembl chr 5:63,681,752...63,729,684
G
TERT
telomerase reverse transcriptase
ISO
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 PMID:23535731 PMID:24833766 PMID:25741868 PMID:26136524 PMID:26194807 PMID:26433962 PMID:28492532 PMID:28818973 PMID:29036293 PMID:29483670 PMID:31395865 PMID:35776903 More...
NCBI chr34:11,288,622...11,307,790
Ensembl chr34:11,288,622...11,307,951
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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 chr 5:32,561,406...32,565,149
Ensembl chr 5:32,560,598...32,574,109
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, 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 PMID:24728327 PMID:24755471 PMID:25305755 PMID:25318351 PMID:25344691 PMID:25741868 PMID:25980754 PMID:26252490 PMID:26467025 PMID:26580448 PMID:27640074 PMID:27997549 PMID:28166811 PMID:28492532 PMID:29641532 PMID:29917049 PMID:30093976 PMID:30851086 PMID:31159747 PMID:31784493 PMID:32980694 PMID:34285288 PMID:34326862 PMID:35264596 PMID:36095024 PMID:36243179 More...
NCBI chr10:1,810,047...1,812,702
Ensembl chr10:1,810,159...1,812,692
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 PMID:10766867 PMID:17952075 PMID:18326704 PMID:18488027 PMID:18488028 PMID:18925668 PMID:19208379 PMID:19533789 PMID:20301345 PMID:21541274 PMID:23504663 PMID:25216246 PMID:25741868 PMID:28492532 PMID:30472657 PMID:35803923 More...
NCBI chr21:10,799,940...10,894,187
Ensembl chr21:10,799,940...10,894,191
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 8:71,441,732...71,452,922
Ensembl chr 8:71,442,429...71,449,408
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all