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: melanoma
Accession: DOID:1909
browse the term
Definition: A cell type cancer that has_material_basis_in abnormally proliferating cells derives_from melanocytes which are found in skin, the bowel and the eye. (DO)
Synonyms: exact_synonym: Malignant Melanoma; Malignant Melanoma, Somatic; malignant melanomas; melanomas; naevocarcinoma
narrow_synonym: Non-Cutaneous Melanoma
related_synonym: Albumin Nagano; Albumin Oliphant; Albumin Osaka 2; Albumin Phnom Penh; Albumin Verona B; MALIGNANT MELANOMA SUSCEPTIBILITY; albumin B
primary_id: MESH:D008545
xref: EFO:0000756 ; EFO:1000397 ; NCI:C120298 ; NCI:C21790 ; NCI:C3224 ; NCI:C60451
For additional species annotation, visit the
Alliance of Genome Resources .
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ABCB5
ATP binding cassette subfamily B member 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15899824
NCBI chr 7:21,302,954...21,432,569
Ensembl chr 7:20,620,875...20,746,634
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ACER3
alkaline ceramidase 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22535842
NCBI chr11:71,911,204...72,077,528
Ensembl chr11:75,557,846...75,717,586
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ADAMTS20
ADAM metallopeptidase with thrombospondin type 1 motif 20
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21559390
NCBI chr12:45,178,058...45,369,042
Ensembl chr12:46,046,555...46,236,676
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AGER
advanced glycosylation end-product specific receptor
treatment
ISO
RGD
PMID:15009731
RGD:8695970
NCBI chr 6:31,828,363...31,831,981
Ensembl chr 6:32,708,251...32,711,641
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AKR1B10
aldo-keto reductase family 1 member B10
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21499247
NCBI chr 7:126,486,012...126,499,852
Ensembl chr 7:138,992,835...139,006,003
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ALDH1A1
aldehyde dehydrogenase 1 family member A1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:31580832
NCBI chr 9:51,737,305...51,916,648
Ensembl chr 9:71,680,890...71,814,085
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ALDH1A3
aldehyde dehydrogenase 1 family member A3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:31580832
NCBI chr15:79,603,893...79,640,866
Ensembl chr15:98,891,770...98,928,396
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AMIGO2
adhesion molecule with Ig like domain 2
treatment
ISO
RGD
PMID:26553931
RGD:14392781
NCBI chr12:41,652,954...41,656,393
Ensembl chr12:42,525,858...42,527,426
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APEX1
apurinic/apyrimidinic endodeoxyribonuclease 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16373707
NCBI chr14:1,329,745...1,332,315
Ensembl chr14:19,381,911...19,384,542
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ARL2
ARF like GTPase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22535842
NCBI chr11:60,370,499...60,378,553
Ensembl chr11:63,710,622...63,719,103
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ARL5B
ARF like GTPase 5B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22535842
NCBI chr10:18,978,412...19,000,643
Ensembl chr10:19,311,639...19,325,801
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ARNT
aryl hydrocarbon receptor nuclear translocator
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21983785
NCBI chr 1:126,160,017...126,226,222
Ensembl chr 1:129,809,431...129,875,629
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ARPC2
actin related protein 2/3 complex subunit 2
ISO
protein:increased expression:nevus (human)
RGD
PMID:19332774
RGD:11049176
NCBI chr2B:105,478,035...105,513,665
Ensembl chr2B:224,076,356...224,111,643
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ASF1A
anti-silencing function 1A histone chaperone
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22535842
NCBI chr 6:116,702,314...116,717,445
Ensembl chr 6:120,843,461...120,858,471
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ASIP
agouti signaling protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18488027 PMID:18641652 PMID:21983785
NCBI chr20:30,583,038...30,592,726
Ensembl chr20:31,718,169...31,727,217
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ASS1
argininosuccinate synthase 1
ISO
RGD
PMID:12359751
RGD:4140479
NCBI chr 9:101,569,442...101,625,899
Ensembl chr 9:130,219,993...130,276,036
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ATM
ATM serine/threonine kinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21983787
NCBI chr11:103,109,979...103,256,405
Ensembl chr11:106,584,228...106,727,041
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ATRX
ATRX chromatin remodeler
disease_progression
ISO
protein:decreased expression:skin:
RGD
PMID:24468746
RGD:9586028
NCBI chr X:66,682,968...66,969,421
Ensembl chr X:76,795,574...77,083,486
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AURKA
aurora kinase A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22535842
NCBI chr20:52,707,757...52,730,579
Ensembl chr20:53,994,881...54,017,339
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BATF2
basic leucine zipper ATF-like transcription factor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22535842
NCBI chr11:60,344,306...60,353,448
Ensembl chr11:63,685,121...63,694,280
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BCL2
BCL2 apoptosis regulator
severity
ISO
protein:increased expression:lymph node (human)
RGD
PMID:8783649
RGD:11526106
NCBI chr18:56,481,212...56,679,012
Ensembl chr18:59,802,443...59,992,100
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BCL2L1
BCL2 like 1
disease_progression
ISO
protein:increased expression:skin, subcutaneous tissue (human)
RGD
PMID:17384650
RGD:11353861
NCBI chr20:27,955,688...28,015,950
Ensembl chr20:29,088,055...29,146,585
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BMP4
bone morphogenetic protein 4
susceptibility
ISO
DNA:SNP:cds:6007C>T (rs17563)(human)
RGD
PMID:19557432
RGD:9068447
NCBI chr14:34,542,132...34,549,286
Ensembl chr14:52,821,872...52,828,752
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BRAF
B-Raf proto-oncogene, serine/threonine kinase
treatment onset
ISO
ClinVar Annotator: match by term: MELANOMA, MALIGNANT | ClinVar Annotator: match by term: Melanoma DNA:mutations: :
RGD ClinVar
PMID:12068308 PMID:12198537 PMID:12447372 PMID:12619120 PMID:12644542 PMID:12670889 PMID:12794760 PMID:12960123 PMID:14513361 PMID:14602780 PMID:15001635 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:16804887 PMID:17366577 PMID:17374713 PMID:17488796 PMID:17551924 PMID:17703371 PMID:17785355 PMID:18039235 PMID:18042262 PMID:18398503 PMID:18413255 PMID:18456719 PMID:18854871 PMID:19206169 PMID:19376813 PMID:19571295 PMID:20186801 PMID:20395089 PMID:20818844 PMID:20823850 PMID:20859831 PMID:21063443 PMID:21107320 PMID:21107323 PMID:21784453 PMID:21871821 PMID:22039425 PMID:22113612 PMID:22281684 PMID:22301711 PMID:22319199 PMID:22495831 PMID:23302800 PMID:23312806 PMID:23564332 PMID:23685455 PMID:23975261 PMID:24033266 PMID:24088041 PMID:24409384 PMID:24512911 PMID:24524299 PMID:24670642 PMID:24717435 PMID:24719372 PMID:24775816 PMID:25035421 PMID:25079330 PMID:25623140 PMID:25741868 PMID:25950823 PMID:26242988 PMID:26633545 PMID:27146152 PMID:27322245 PMID:27391121 PMID:27478040 PMID:27940666 PMID:28404629 PMID:28492532 PMID:28687512 PMID:28783719 PMID:28854169 PMID:29095811 PMID:29540830 PMID:29925953 PMID:30986545 PMID:31069529 PMID:31217210 PMID:31891627 PMID:32369273 PMID:33040082 PMID:34411415 PMID:34476331 PMID:34573299 PMID:35524774 PMID:37138575 PMID:37510243 More...
RGD:11567259 RGD:11567267
NCBI chr 7:132,651,908...132,855,422
Ensembl chr 7:145,138,510...145,327,115
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BRCA2
BRCA2 DNA repair associated
susceptibility
ISO
DNA:polymorphism:cds:p.N991D(human) ClinVar Annotator: match by term: Melanoma
RGD ClinVar
PMID:18024013 PMID:25741868 PMID:28492532 PMID:31911673
RGD:9068469
NCBI chr13:13,574,422...13,658,967
Ensembl chr13:32,010,066...32,091,332
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BRD2
bromodomain containing 2
ISO
protein:mRNA:skin:
RGD
PMID:23950209
RGD:9586346
NCBI chr 6:32,538,130...32,550,823
Ensembl chr 6:33,657,648...33,666,031
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BRD4
bromodomain containing 4
ISO
protein:mRNA:skin:
RGD
PMID:23950209
RGD:9586346
NCBI chr19:14,768,239...14,805,770
Ensembl chr19:15,754,930...15,789,600
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BSG
basigin (Ok blood group)
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:36574092
Ensembl chr19:539,815...551,456
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BZW1
basic leucine zipper and W2 domains 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22535842
NCBI chr2B:88,067,041...88,079,647
Ensembl chr2B:206,225,963...206,238,587
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C3
complement C3
treatment
ISO
RGD
PMID:17146472
RGD:7401279
NCBI chr19:5,708,211...5,753,178
Ensembl chr19:6,629,287...6,674,699
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C9H11orf68
chromosome 9 C11orf68 homolog
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22535842
NCBI chr11:61,277,154...61,279,408
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CAPN1
calpain 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22535842
NCBI chr11:60,545,837...60,576,631
Ensembl chr11:63,886,015...63,916,021
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CASP10
caspase 10
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18563783
NCBI chr2B:88,440,199...88,479,277
Ensembl chr2B:206,595,776...206,641,775
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CASP8
caspase 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18563783 PMID:21983787
NCBI chr2B:88,490,611...88,542,132
Ensembl chr2B:206,669,544...206,696,468
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CAT
catalase
ISO
protein:increased activity:melanocyte: protein:increased activity:multiple:
RGD
PMID:9758419 PMID:15224238
RGD:9479151 RGD:9479742
NCBI chr11:34,413,253...34,446,831
Ensembl chr11:34,289,603...34,323,160
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CAV1
caveolin 1
disease_progression
ISO
RGD
PMID:22134245
RGD:8661767
NCBI chr 7:108,497,125...108,533,090
Ensembl chr 7:121,193,424...121,229,655
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CBS
cystathionine beta-synthase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25205294
NCBI chr21:29,361,519...29,385,610
Ensembl chr21:42,670,530...42,690,932
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CCDC63
coiled-coil domain containing 63
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21499247
NCBI chr12:108,417,758...108,477,163
Ensembl chr12:111,816,429...111,870,006
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CD163L1
CD163 molecule like 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22842228
NCBI chr12:7,497,261...7,590,057
Ensembl chr12:7,656,113...7,749,646
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CD274
CD274 molecule
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20143437
NCBI chr 9:5,269,270...5,289,629
Ensembl chr 9:5,454,391...5,474,402
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CD40
CD40 molecule
treatment
ISO
RGD
PMID:17327609 PMID:22421945
RGD:11522740 RGD:11522745
NCBI chr20:42,455,711...42,467,139
Ensembl chr20:43,541,619...43,552,994
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CDK2
cyclin dependent kinase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21559390
NCBI chr12:32,940,225...32,946,236
Ensembl chr12:33,189,934...33,195,945
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CDK4
cyclin dependent kinase 4
ISO
ClinVar Annotator: match by term: Malignant melanoma, somatic
ClinVar
PMID:5377176 PMID:7652577 PMID:8528263 PMID:8968104 PMID:9228064 PMID:9425228 PMID:11756559 PMID:15880589 PMID:21801156 PMID:23384855 PMID:23546221 PMID:24256466 PMID:25157968 PMID:26619011 PMID:28492532 PMID:29774366 More...
NCBI chr12:31,174,446...31,178,597
Ensembl chr12:31,434,594...31,438,876
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CDKN1A
cyclin dependent kinase inhibitor 1A
ISO
protein:increased expression:skin
RGD
PMID:9194578 PMID:22311377
RGD:8662421 RGD:8662817
NCBI chr 6:36,241,405...36,250,032
Ensembl chr 6:37,436,990...37,445,599
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CDKN1C
cyclin dependent kinase inhibitor 1C
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17145863
NCBI chr11:2,908,537...2,911,134
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CDKN2A
cyclin dependent kinase inhibitor 2A
susceptibility
ISO
DNA:point mutation, insertion:exon ClinVar Annotator: match by term: Melanoma
RGD ClinVar
PMID:7566978 PMID:7647780 PMID:7666917 PMID:7718873 PMID:7881419 PMID:7987387 PMID:7987388 PMID:8012957 PMID:8552158 PMID:8570179 PMID:8653684 PMID:8668202 PMID:8727306 PMID:8755727 PMID:9166859 PMID:9168184 PMID:9324288 PMID:9425228 PMID:9916806 PMID:10389768 PMID:10508477 PMID:10738302 PMID:10869234 PMID:11556834 PMID:11579459 PMID:11807902 PMID:12001124 PMID:12072543 PMID:14679123 PMID:15146471 PMID:15860862 PMID:16234564 PMID:16397522 PMID:16818274 PMID:16896043 PMID:17047042 PMID:17397031 PMID:17713569 PMID:18025365 PMID:18337833 PMID:18519632 PMID:19260062 PMID:19360740 PMID:19523171 PMID:20093296 PMID:20340136 PMID:21462282 PMID:21801156 PMID:22841127 PMID:24659262 PMID:25023876 PMID:25741868 PMID:25780468 PMID:26381259 PMID:26467025 PMID:26581427 PMID:26658419 PMID:26681309 PMID:26775776 PMID:27181379 PMID:27756164 PMID:27960642 PMID:28146043 PMID:28492532 PMID:28592523 PMID:28765326 PMID:29263814 PMID:29464027 PMID:29945567 PMID:30274933 PMID:30306255 PMID:31432501 PMID:31517177 PMID:31567591 PMID:32455486 More...
RGD:1600812
NCBI chr 9:21,803,862...21,831,322
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CHEK2
checkpoint kinase 2
ISO
ClinVar Annotator: match by term: Melanoma
ClinVar
PMID:12533788 PMID:15087378 PMID:15095295 PMID:15492928 PMID:15810020 PMID:17085682 PMID:19030985 PMID:20417869 PMID:21876083 PMID:22058216 PMID:23296741 PMID:24713400 PMID:25085752 PMID:25525159 PMID:25583358 PMID:25741868 PMID:25980754 PMID:26084796 PMID:26446916 PMID:26467025 PMID:26681312 PMID:26689913 PMID:26822949 PMID:26845104 PMID:27153395 PMID:27616075 PMID:27751358 PMID:28211887 PMID:28492532 PMID:28727877 PMID:28779002 PMID:28802053 PMID:28873162 PMID:29520813 PMID:29902706 PMID:29958926 PMID:30322717 PMID:30426508 PMID:30676620 PMID:30927251 PMID:31159747 PMID:31263571 PMID:31360903 PMID:31447099 PMID:31843900 PMID:32295079 PMID:32338768 PMID:32546565 PMID:32875559 PMID:32885271 PMID:33030641 PMID:33077847 PMID:33726816 PMID:33804961 PMID:34308366 PMID:34570182 PMID:34992046 More...
NCBI chr22:9,757,038...9,811,171
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CHI3L1
chitinase 3 like 1
severity
ISO
protein:increased secretion:serum (human)
RGD
PMID:16456816
RGD:4892643
NCBI chr 1:178,778,081...178,789,704
Ensembl chr 1:183,075,312...183,083,229
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CLNS1A
chloride nucleotide-sensitive channel 1A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22535842
NCBI chr11:72,680,122...72,701,752
Ensembl chr11:76,321,769...76,343,059
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CLU
clusterin
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:15955107
NCBI chr 8:26,867,973...26,884,838
Ensembl chr 8:24,070,053...24,083,523
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CNNM1
cyclin and CBS domain divalent metal cation transport mediator 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16778180
NCBI chr10:95,942,366...96,009,729
Ensembl chr10:99,436,669...99,500,860
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COL2A1
collagen type II alpha 1 chain
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16778180
NCBI chr12:40,726,137...40,757,690
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CP
ceruloplasmin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23792645
NCBI chr 3:146,180,527...146,239,833
Ensembl chr 3:153,764,830...153,817,544
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CPT1C
carnitine palmitoyltransferase 1C
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16778180
NCBI chr19:46,705,711...46,727,996
Ensembl chr19:55,626,831...55,647,394
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CRYBG1
crystallin beta-gamma domain containing 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22402438
NCBI chr 6:104,175,754...104,385,329
Ensembl chr 6:108,048,568...108,257,222
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CSF2
colony stimulating factor 2
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:11061616
NCBI chr 5:127,496,951...127,499,325
Ensembl chr 5:133,660,775...133,663,146
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CSF3
colony stimulating factor 3
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:16120623 PMID:16260693
NCBI chr17:17,271,074...17,273,493
Ensembl chr17:17,491,276...17,493,729
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CST6
cystatin E/M
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22535842
NCBI chr11:61,375,744...61,377,909
Ensembl chr11:64,703,412...64,704,762
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CTH
cystathionine gamma-lyase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25205294
NCBI chr 1:69,646,608...69,674,301
Ensembl chr 1:71,629,333...71,677,666
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CTLA4
cytotoxic T-lymphocyte associated protein 4
treatment
ISO
CTD Direct Evidence: therapeutic DNA:SNPs: :-11577G>A,rs3087243(human)
CTD RGD
PMID:21802280 PMID:23641913
RGD:7411681
NCBI chr2B:91,054,917...91,106,234
Ensembl chr2B:209,239,417...209,244,498
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CUBN
cubilin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22535842
NCBI chr10:17,141,464...17,446,867
Ensembl chr10:17,415,551...17,719,129
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CUL3
cullin 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22535842
NCBI chr2B:111,714,533...111,827,080
Ensembl chr2B:230,289,195...230,378,991
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CYP1B1
cytochrome P450 family 1 subfamily B member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17145863
NCBI chr2A:38,087,863...38,096,529
Ensembl chr2A:38,851,000...38,859,824
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DCBLD1
discoidin, CUB and LCCL domain containing 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22535842
NCBI chr 6:115,290,931...115,358,249
Ensembl chr 6:119,434,847...119,519,282
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DCC
DCC netrin 1 receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22842228
NCBI chr18:45,717,924...46,913,998
Ensembl chr18:49,268,812...50,255,155
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DDIT4L
DNA damage inducible transcript 4 like
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16778180
NCBI chr 4:92,606,473...92,615,421
Ensembl chr 4:103,268,048...103,272,666
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DDR2
discoidin domain receptor tyrosine kinase 2
ameliorates
ISO
DNA:deletion:exons:
RGD
PMID:24293323
RGD:150429711
NCBI chr 1:138,048,730...138,200,426
Ensembl chr 1:141,932,158...141,990,766
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DLG2
discs large MAGUK scaffold protein 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22535842
NCBI chr11:78,517,601...80,684,319
Ensembl chr11:82,128,746...84,263,241
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DNAJC1
DnaJ heat shock protein family (Hsp40) member C1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22535842
NCBI chr10:21,920,188...22,166,782
Ensembl chr10:22,297,332...22,542,771
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DNAJC15
DnaJ heat shock protein family (Hsp40) member C15
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17145863
NCBI chr13:24,193,185...24,276,813
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DNMT3A
DNA methyltransferase 3 alpha
ISO
ClinVar Annotator: match by term: Melanoma
ClinVar
PMID:24614070 PMID:28475857 PMID:28492532 PMID:29900417
NCBI chr2A:25,229,593...25,344,733
Ensembl chr2A:25,331,095...25,412,605
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DRAP1
DR1 associated protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22535842
NCBI chr11:61,279,681...61,281,881
Ensembl chr11:64,608,245...64,610,031
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DSC1
desmocollin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22197931
NCBI chr18:24,358,116...24,393,604
Ensembl chr18:27,955,717...27,990,818
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E2F1
E2F transcription factor 1
ISO
CTD Direct Evidence: marker/mechanism|therapeutic
CTD
PMID:15574415 PMID:16827129
NCBI chr20:29,963,083...29,973,860
Ensembl chr20:31,103,764...31,110,604
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ECHDC1
ethylmalonyl-CoA decarboxylase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22535842
NCBI chr 6:125,079,246...125,134,053
Ensembl chr 6:129,192,752...129,247,667
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EDA
ectodysplasin A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22535842
NCBI chr X:58,881,660...59,308,451
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EHMT2
euchromatic histone lysine methyltransferase 2
disease_progression
ISO
RGD
PMID:24658378
RGD:9590069
NCBI chr 6:31,542,946...31,560,894
Ensembl chr 6:32,429,271...32,451,844
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EIF1AD
eukaryotic translation initiation factor 1A domain containing
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22535842
NCBI chr11:61,356,142...61,366,589
Ensembl chr11:64,689,797...64,693,534
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ELN
elastin
disease_progression
ISO
associated with Nevus, Pigmented;
RGD
PMID:11979070 PMID:19032378
RGD:9585752 RGD:9585768
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ENG
endoglin
treatment
ISO
RGD
PMID:23076642
RGD:7248785
NCBI chr 9:98,934,080...98,973,862
Ensembl chr 9:127,605,608...127,644,641
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EP300
E1A binding protein p300
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23698071
NCBI chr22:21,986,467...22,076,921
Ensembl chr22:40,079,503...40,168,604
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EPB41
erythrocyte membrane protein band 4.1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17145863
NCBI chr 1:28,158,807...28,390,541
Ensembl chr 1:29,284,923...29,416,474
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EPHX3
epoxide hydrolase 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16778180
NCBI chr19:14,759,671...14,766,596
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EPO
erythropoietin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15743794
NCBI chr 7:92,747,671...92,750,886
Ensembl chr 7:106,148,062...106,150,974
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EPOR
erythropoietin receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21860424
NCBI chr19:10,925,148...10,931,955
Ensembl chr19:11,635,248...11,642,383
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ERBB4
erb-b2 receptor tyrosine kinase 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19718025
NCBI chr2B:98,625,630...99,795,371
Ensembl chr2B:217,069,644...218,272,006
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ERCC1
ERCC excision repair 1, endonuclease non-catalytic subunit
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21722328
NCBI chr19:42,356,039...42,427,754
Ensembl chr19:50,951,674...50,968,430
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ERCC2
ERCC excision repair 2, TFIIH core complex helicase subunit
disease_progression
ISO
DNA:polymorphism:exon:p.K751Q(human)
RGD
PMID:21390047
RGD:12880434
NCBI chr19:42,298,927...42,319,816
Ensembl chr19:50,897,004...50,915,819
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ERCC5
ERCC excision repair 5, endonuclease
disease_progression
ISO
DNA:polymorphism:exon:p.D1104H(human)
RGD
PMID:21390047
RGD:12880434
NCBI chr13:84,005,950...84,036,710
Ensembl chr13:103,096,344...103,174,182
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ESR1
estrogen receptor 1
severity
ISO
RGD
PMID:19153340
RGD:8553064
NCBI chr 6:149,507,599...149,918,523
Ensembl chr 6:154,317,002...154,631,551
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ESR2
estrogen receptor 2
severity
ISO
RGD
PMID:19153340
RGD:8553064
NCBI chr14:44,807,875...44,919,780
Ensembl chr14:63,064,402...63,131,303
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F2RL1
F2R like trypsin receptor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17145863
Ensembl chr 5:39,006,331...39,024,265
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FAS
Fas cell surface death receptor
susceptibility
ISO
DNA:polymorphisms:promoter:-1377A>G,-670A>G(human)
RGD
PMID:16538172
RGD:12903985
NCBI chr10:85,707,457...85,741,539
Ensembl chr10:89,217,949...89,243,612
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FASLG
Fas ligand
susceptibility
ISO
DNA:polymorphisms,haplotype:promoter:-844C>T,IVS2nt-124A>G(human) CTD Direct Evidence: therapeutic
RGD CTD
PMID:16487513 PMID:16538172
RGD:12903985
NCBI chr 1:148,159,826...148,167,785
Ensembl chr 1:151,868,430...151,876,281
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FASN
fatty acid synthase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18770866 PMID:20805790 PMID:21213365
NCBI chr17:76,483,108...76,503,148
Ensembl chr17:82,187,516...82,205,647
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FAT4
FAT atypical cadherin 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22197931
NCBI chr 4:117,494,842...117,674,382
Ensembl chr 4:128,637,516...128,814,407
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FBN1
fibrillin 1
ISO
ClinVar Annotator: match by term: Melanoma
ClinVar
PMID:7611299 PMID:8894692 PMID:9401003 PMID:9536098 PMID:10533071 PMID:10874320 PMID:11700157 PMID:12402346 PMID:12938084 PMID:14695540 PMID:16220557 PMID:16222657 PMID:16835936 PMID:17253931 PMID:17576681 PMID:17657824 PMID:17663468 PMID:19159394 PMID:19293843 PMID:21542060 PMID:24033266 PMID:24161884 PMID:25741868 PMID:26133393 PMID:28492532 PMID:29357934 PMID:31098894 PMID:37684520 More...
NCBI chr15:27,358,780...27,593,539
Ensembl chr15:45,682,450...45,918,111
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FHIP2A
FHF complex subunit HOOK interacting protein 2A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22535842
NCBI chr10:111,414,626...111,457,701
Ensembl chr10:114,858,836...114,927,836
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FLT1
fms related receptor tyrosine kinase 1
ISO
CTD Direct Evidence: marker/mechanism protein:increased expression:serum:
CTD RGD
PMID:19718025 PMID:21730877
RGD:8552360
NCBI chr13:9,584,850...9,779,542
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FTO
FTO alpha-ketoglutarate dependent dioxygenase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23455637
NCBI chr16:33,939,300...34,343,419
Ensembl chr16:53,023,425...53,490,231
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GAB2
GRB2 associated binding protein 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22535842
NCBI chr11:73,275,360...73,478,272
Ensembl chr11:76,896,691...76,967,007
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GDF15
growth differentiation factor 15
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17145863
NCBI chr19:17,864,840...17,867,883
Ensembl chr19:18,835,216...18,838,470
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GGT1
gamma-glutamyltransferase 1
disease_progression
ISO
RGD
PMID:6120756
RGD:14747014
NCBI chr22:5,424,334...5,469,705
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GLO1
glyoxalase I
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20093988
NCBI chr 6:38,247,881...38,275,098
Ensembl chr 6:39,434,746...39,461,971
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GNA11
G protein subunit alpha 11
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23432625
NCBI chr19:2,120,398...2,149,161
Ensembl chr19:3,074,483...3,102,124
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GOPC
golgi associated PDZ and coiled-coil motif containing
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22535842
NCBI chr 6:115,368,682...115,411,140
Ensembl chr 6:119,509,936...119,552,010
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GPAM
glycerol-3-phosphate acyltransferase, mitochondrial
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22535842
NCBI chr10:108,747,370...108,781,270
Ensembl chr10:112,186,744...112,246,549
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GPER1
G protein-coupled estrogen receptor 1
severity
ISO
protein:increased expression:skin (human)
RGD
PMID:28467693
RGD:39939016
NCBI chr 7:1,331,586...1,338,194
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GPHA2
glycoprotein hormone subunit alpha 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22535842
NCBI chr11:60,284,963...60,294,626
Ensembl chr11:63,631,772...63,632,765
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GRIN2A
glutamate ionotropic receptor NMDA type subunit 2A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21499247
NCBI chr16:8,682,169...9,105,581
Ensembl chr16:9,919,143...10,336,167
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GRM3
glutamate metabotropic receptor 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21946352 PMID:22842228
NCBI chr 7:78,621,634...78,842,532
Ensembl chr 7:92,400,728...92,500,553
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GSTP1
glutathione S-transferase pi 1
ISO
DNA:polymorphism:cds:p.I50V(human)
RGD
PMID:23568549
RGD:8547833
NCBI chr11:62,942,756...62,945,701
Ensembl chr11:66,253,421...66,256,472
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HDAC2
histone deacetylase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22535842
NCBI chr 6:111,731,139...111,761,826
Ensembl chr 6:115,802,367...115,833,004
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HDAC3
histone deacetylase 3
ISO
associated with Anaphylaxis;
RGD
PMID:24619412
RGD:9590165
NCBI chr 5:136,981,790...136,997,786
Ensembl chr 5:143,094,406...143,110,322
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HDAC6
histone deacetylase 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22535842
NCBI chr X:41,099,539...41,122,650
Ensembl chr X:48,960,430...48,982,642
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HIKESHI
heat shock protein nuclear import factor hikeshi
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22535842
NCBI chr11:81,353,756...81,397,167
Ensembl chr11:84,961,298...85,004,740
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HOXA9
homeobox A9
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16778180
NCBI chr 7:27,806,942...27,810,304
Ensembl chr 7:27,405,931...27,409,984
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HOXB13
homeobox B13
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17145863
NCBI chr17:8,807,988...8,810,362
Ensembl chr17:8,994,224...8,996,598
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HOXD12
homeobox D12
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16778180
NCBI chr2B:63,379,611...63,382,293
Ensembl chr2B:181,089,181...181,091,055
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HPSE
heparanase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22240343
NCBI chr 4:40,863,491...40,905,693
Ensembl chr 4:46,709,621...46,755,157
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HRAS
HRas proto-oncogene, GTPase
ISO
ClinVar Annotator: match by term: Malignant melanoma, somatic | ClinVar Annotator: match by term: Melanoma
ClinVar
PMID:1904555 PMID:2999610 PMID:3510078 PMID:3537694 PMID:6092966 PMID:6330729 PMID:7177195 PMID:8960317 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:32165824 PMID:32371413 PMID:32732226 PMID:33027564 PMID:33372952 PMID:34008892 PMID:34958143 PMID:168335863 More...
NCBI chr11:537,488...540,810
Ensembl chr11:568,305...571,078
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HS3ST5
heparan sulfate-glucosamine 3-sulfotransferase 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22535842
NCBI chr 6:111,846,143...112,132,706
Ensembl chr 6:115,917,004...116,089,942
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HSPA1A
heat shock protein family A (Hsp70) member 1A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26984758
NCBI chr 6:31,476,710...31,491,411
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ICAM1
intercellular adhesion molecule 1
disease_progression
ISO
RGD
PMID:8599446
RGD:8547584
NCBI chr19:9,821,402...9,837,021
Ensembl chr19:10,484,414...10,500,605
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IER2
immediate early response 2
disease_progression
ISO
mRNA:increased expression:skin (human)
RGD
PMID:34611309
RGD:153323325
NCBI chr19:12,714,804...12,718,213
Ensembl chr19:13,452,239...13,452,910
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IFNB1
interferon beta 1
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:16928243 PMID:21846298
NCBI chr 9:20,884,742...20,886,317
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IFNG
interferon gamma
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:9794839
NCBI chr12:65,663,764...65,668,732
Ensembl chr12:68,448,861...68,453,829
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IL17D
interleukin 17D
severity
ISO
RGD
PMID:31244826
RGD:40903065
NCBI chr13:2,030,234...2,049,965
Ensembl chr13:20,343,537...20,361,535
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IL1RAPL1
interleukin 1 receptor accessory protein like 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22535842
NCBI chr X:21,180,693...22,548,122
Ensembl chr X:28,950,521...30,109,286
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IL1RN
interleukin 1 receptor antagonist
ISO
mouse model treated with human protein
RGD
PMID:8168095
RGD:6909140
NCBI chr2A:88,991,646...89,008,013
Ensembl chr2A:114,061,182...114,078,839
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IL2
interleukin 2
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:12374674 PMID:12439608 PMID:15577323 PMID:15917704 PMID:16131448 PMID:16248763 PMID:16260693 PMID:16432458 PMID:16809738 PMID:16939954 PMID:17023156 PMID:17105418 PMID:17576460 PMID:17709802 PMID:17761969 PMID:18176117 PMID:18281670 PMID:18298334 PMID:18332650 PMID:18999936 PMID:19243244 PMID:20423231 More...
NCBI chr 4:114,637,328...114,642,586
Ensembl chr 4:125,782,563...125,787,984
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IL21
interleukin 21
treatment
ISO
RGD
PMID:22477528
RGD:127285553
NCBI chr 4:114,795,979...114,806,936
Ensembl chr 4:125,943,495...125,951,915
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INCENP
inner centromere protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22535842
NCBI chr11:57,488,790...57,519,552
Ensembl chr11:60,846,199...60,874,540
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IQCH
IQ motif containing H
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22535842
NCBI chr15:46,206,780...46,457,549
Ensembl chr15:64,477,650...64,720,706
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JAKMIP2
janus kinase and microtubule interacting protein 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22842228
NCBI chr 5:143,035,340...143,231,371
Ensembl chr 5:149,047,467...149,241,040
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JMJD6
jumonji domain containing 6, arginine demethylase and lysine hydroxylase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30619488
NCBI chr17:70,789,922...70,803,791
Ensembl chr17:76,356,142...76,370,117
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JUNB
JunB proto-oncogene, AP-1 transcription factor subunit
treatment
ISO
human cell line in a mouse model
RGD
PMID:28976960
RGD:151347671
NCBI chr19:12,353,760...12,355,598
Ensembl chr19:13,097,931...13,098,974
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KDM1A
lysine demethylase 1A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29438700
NCBI chr 1:22,205,624...22,269,571
Ensembl chr 1:23,153,066...23,217,692
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KDM4A
lysine demethylase 4A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29438700
NCBI chr 1:42,949,977...43,005,684
Ensembl chr 1:44,325,624...44,380,163
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KDM4B
lysine demethylase 4B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29438700
NCBI chr19:3,986,296...4,172,359
Ensembl chr19:4,977,413...5,116,113
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KDM4C
lysine demethylase 4C
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29438700
NCBI chr 9:6,568,569...6,978,741
Ensembl chr 9:6,746,265...7,155,298
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KDM7A
lysine demethylase 7A
ISO
human gene in a mouse model
RGD
PMID:22143793
RGD:9587848
NCBI chr 7:132,022,983...132,118,881
Ensembl chr 7:144,510,213...144,561,230
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KDR
kinase insert domain receptor
treatment disease_progression
ISO
protein:increased expression:serum: protein:increased expression, altered expression:skin:
RGD
PMID:12415261 PMID:15714119 PMID:21730877
RGD:126925192 RGD:8551851 RGD:8552360
NCBI chr 4:68,813,894...68,861,018
Ensembl chr 4:75,377,375...75,427,109
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KHDRBS2
KH RNA binding domain containing, signal transduction associated 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21499247
NCBI chr 6:59,161,367...59,954,702
Ensembl chr 6:64,624,694...65,227,850
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KIF18B
kinesin family member 18B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:31617652
NCBI chr17:12,374,072...12,398,006
Ensembl chr17:12,558,976...12,569,899
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KIT
KIT proto-oncogene, receptor tyrosine kinase
disease_progression
ISO
ClinVar Annotator: match by term: Malignant melanoma, somatic | ClinVar Annotator: match by term: Melanoma
RGD ClinVar
PMID:7513208 PMID:7530509 PMID:8589724 PMID:9310959 PMID:9438854 PMID:9657776 PMID:10224103 PMID:10362788 PMID:10485475 PMID:10680913 PMID:11073817 PMID:11276010 PMID:11505412 PMID:11526490 PMID:11984533 PMID:12697809 PMID:12960119 PMID:14977822 PMID:15685537 PMID:15790786 PMID:15897563 PMID:16046538 PMID:16226710 PMID:16327443 PMID:16638875 PMID:16731599 PMID:16741525 PMID:16751810 PMID:16908931 PMID:16954519 PMID:17145623 PMID:17255767 PMID:17259998 PMID:17363509 PMID:17372901 PMID:17489795 PMID:17504295 PMID:17699867 PMID:17824795 PMID:18421059 PMID:18448188 PMID:18510589 PMID:18724244 PMID:18936790 PMID:18955458 PMID:18980976 PMID:19164557 PMID:19671763 PMID:19737976 PMID:19812602 PMID:19847891 PMID:19865100 PMID:19996579 PMID:20088873 PMID:20147452 PMID:20545949 PMID:20736294 PMID:20890793 PMID:21131919 PMID:21159146 PMID:21262832 PMID:21569090 PMID:21642685 PMID:21689725 PMID:21690468 PMID:21969494 PMID:22160160 PMID:22261812 PMID:22355224 PMID:22357254 PMID:22626674 PMID:22932406 PMID:23106360 PMID:23149070 PMID:23375402 PMID:23582185 PMID:23598963 PMID:23648119 PMID:23714533 PMID:23775962 PMID:24531699 PMID:24661573 PMID:24755198 PMID:25157968 PMID:25741868 PMID:25832938 PMID:26619011 PMID:26822237 PMID:27771813 PMID:27981619 PMID:28492532 PMID:28506695 PMID:28710566 PMID:29098070 PMID:29434135 PMID:29923175 PMID:31497890 PMID:33212994 PMID:34338390 PMID:38538628 More...
RGD:12910725
NCBI chr 4:69,199,543...69,282,323
Ensembl chr 4:75,761,946...75,844,473
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KLRB1
killer cell lectin like receptor B1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17295095
NCBI chr12:9,644,078...9,656,303
Ensembl chr12:9,892,986...9,905,255
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KLRK1
killer cell lectin like receptor K1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17295095
NCBI chr12:10,411,932...10,429,256
Ensembl chr12:10,662,424...10,699,078
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LGALS3
galectin 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23994248
NCBI chr14:35,715,850...35,732,263
Ensembl chr14:53,990,023...54,006,412
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LOC100972354
interferon alpha-2
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:11135225 PMID:12374674 PMID:12393984 PMID:12439608 PMID:12829675 PMID:12883367 PMID:15917704 PMID:16034308 PMID:16248763 PMID:16939954 PMID:17023156 PMID:17576461 PMID:17709802 PMID:17761969 PMID:17973783 PMID:18176117 PMID:18281266 PMID:18332650 More...
NCBI chr 9:21,245,017...21,246,210
Ensembl chr 9:21,863,062...21,863,736
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LOC100986730
guanine nucleotide-binding protein G(q) subunit alpha
ISO
ClinVar Annotator: match by term: Melanoma
ClinVar
PMID:1328859 PMID:2549426 PMID:18719078 PMID:19078957 PMID:21083380 PMID:22253748 PMID:22653968 PMID:22733540 PMID:22808163 PMID:23656586 PMID:25157968 PMID:25188413 PMID:25741868 More...
NCBI chr 9:46,816,409...47,129,116
Ensembl chr 9:76,575,815...76,773,849
G
LOC103785028
polycomb protein SUZ12
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25119042
NCBI chr17:24,790,921...24,853,790
G
LRP1B
LDL receptor related protein 1B
ameliorates
ISO
CTD Direct Evidence: marker/mechanism DNA:mutations:multiple: (human)
CTD RGD
PMID:22197931 PMID:31164891
RGD:150429775
NCBI chr2B:17,702,178...19,611,567
Ensembl chr2B:144,382,759...146,221,243
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LRRC56
leucine rich repeat containing 56
ISO
ClinVar Annotator: match by term: MELANOMA, MALIGNANT | ClinVar Annotator: match by term: Malignant melanoma, somatic | ClinVar Annotator: match by term: Melanoma
ClinVar
PMID:1904555 PMID:2999610 PMID:3510078 PMID:3537694 PMID:6092966 PMID:6330729 PMID:7177195 PMID:8960317 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:32165824 PMID:32371413 PMID:32732226 PMID:33027564 PMID:33372952 PMID:34008892 PMID:34958143 PMID:168335863 More...
NCBI chr11:514,227...559,838
Ensembl chr11:575,495...588,750
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LTA
lymphotoxin alpha
disease_progression
ISO
RGD
PMID:9182821
RGD:8548801
NCBI chr 6:31,233,411...31,235,409
Ensembl chr 6:32,123,353...32,125,375
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LXN
latexin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17145863
NCBI chr 3:155,692,283...155,698,605
Ensembl chr 3:163,743,319...163,749,614
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MAGEA1
MAGE family member A1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26640592
NCBI chr X:142,727,982...142,732,563
G
MAGEC1
MAGE family member C1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22842228
NCBI chr X:131,056,635...131,062,120
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MAP2K1
mitogen-activated protein kinase kinase 1
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Malignant melanoma, somatic
CTD ClinVar
PMID:7651428 PMID:18632602 PMID:19915144 PMID:22197931 PMID:23569304 PMID:25157968 PMID:25741868 PMID:29643386 More...
NCBI chr15:45,337,117...45,438,826
Ensembl chr15:63,613,961...63,714,161
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MAP2K2
mitogen-activated protein kinase kinase 2
ISO
ClinVar Annotator: match by term: Melanoma
ClinVar
PMID:24265153 PMID:24265154 PMID:25487361 PMID:28492532
NCBI chr19:3,114,445...3,148,619
Ensembl chr19:4,064,626...4,097,933
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MAP3K5
mitogen-activated protein kinase kinase kinase 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22197930
NCBI chr 6:134,316,841...134,582,843
Ensembl chr 6:138,406,398...138,641,727
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MAP3K9
mitogen-activated protein kinase kinase kinase 9
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22197930
NCBI chr14:51,310,565...51,396,994
Ensembl chr14:70,188,444...70,266,460
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MAPK1
mitogen-activated protein kinase 1
treatment
ISO
RGD
PMID:28976960
RGD:151347671
NCBI chr22:3,883,119...3,990,368
Ensembl chr22:20,365,487...20,450,335
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MAPK14
mitogen-activated protein kinase 14
ameliorates
ISO
mouse cell line in a mouse model
RGD
PMID:29907597
RGD:151665504
NCBI chr 6:35,586,847...35,683,041
Ensembl chr 6:36,788,233...36,871,114
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MC1R
melanocortin 1 receptor
ISO
ClinVar Annotator: match by term: Malignant Melanoma Susceptibility | ClinVar Annotator: match by term: Melanoma
ClinVar
PMID:7581459 PMID:16809487 PMID:16982779 PMID:17616515 PMID:18366057 PMID:19799798 PMID:21128237 PMID:23647022 PMID:24033266 PMID:25741868 PMID:26103569 PMID:26197705 PMID:28492532 More...
NCBI chr16:70,676,447...70,697,636
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MDM2
MDM2 proto-oncogene
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17210701
NCBI chr12:66,322,340...66,357,010
Ensembl chr12:69,102,084...69,133,278
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MELTF
melanotransferrin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16704991
NCBI chr 3:194,345,474...194,373,690
Ensembl chr 3:204,262,182...204,310,710
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MET
MET proto-oncogene, receptor tyrosine kinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29426936
NCBI chr 7:108,646,278...108,772,238
Ensembl chr 7:121,365,438...121,468,159
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MGMT
O-6-methylguanine-DNA methyltransferase
ISO
protein:increased activity:skin tumor (rat)
RGD
PMID:20182810
RGD:2316960
NCBI chr10:126,059,701...126,365,850
Ensembl chr10:130,305,485...130,609,422
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MITF
melanocyte inducing transcription factor
ISO
ClinVar Annotator: match by term: Melanoma
ClinVar
PMID:2440678 PMID:22012259 PMID:22080950 PMID:22158021 PMID:23167872 PMID:23774529 PMID:23787126 PMID:23802662 PMID:24033266 PMID:24290354 PMID:24352080 PMID:24406078 PMID: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:26999813 PMID:27153395 PMID:27473757 PMID:27680874 PMID:28125078 PMID:28152038 PMID:28376192 PMID:28492532 PMID:28825054 PMID:29506128 PMID:29706638 PMID:30414346 PMID:31465090 PMID:32054529 PMID:33051548 PMID:33240314 PMID:34289891 PMID:34662886 More...
NCBI chr 3:69,674,064...69,902,078
Ensembl chr 3:71,037,665...71,265,445
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MLANA
melan-A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26640592
NCBI chr 9:5,711,237...5,729,377
Ensembl chr 9:5,892,923...5,910,956
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MLLT10
MLLT10 histone lysine methyltransferase DOT1L cofactor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22535842
NCBI chr10:21,686,507...21,907,247
Ensembl chr10:21,994,975...22,282,737
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MMP8
matrix metallopeptidase 8
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:19330028
NCBI chr11:97,650,408...97,663,731
Ensembl chr11:101,143,268...101,156,736
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MPST
mercaptopyruvate sulfurtransferase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25205294
NCBI chr22:17,933,995...17,944,196
Ensembl chr22:35,770,209...35,780,250
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MRPL49
mitochondrial ribosomal protein L49
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22535842
NCBI chr11:60,484,645...60,489,718
Ensembl chr11:63,823,018...63,828,127
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MTAP
methylthioadenosine phosphorylase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19578364
NCBI chr 9:21,637,543...21,769,698
Ensembl chr 9:22,266,376...22,382,218
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MTPAP
mitochondrial poly(A) polymerase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22535842
NCBI chr10:30,463,414...30,500,245
Ensembl chr10:30,818,599...30,854,542
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MX2
MX dynamin like GTPase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21983787
NCBI chr21:27,696,457...27,744,105
Ensembl chr21:41,032,681...41,071,653
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MYD88
MYD88 innate immune signal transduction adaptor
treatment
ISO
mouse cell line in a mouse model
RGD
PMID:20823152
RGD:150520170
NCBI chr 3:38,036,565...38,041,014
Ensembl chr 3:38,319,024...38,323,572
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MYO7A
myosin VIIA
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22535842
NCBI chr11:72,187,024...72,265,931
Ensembl chr11:75,834,185...75,907,752
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NAF1
nuclear assembly factor 1 ribonucleoprotein
ISO
DNA:SNP:cds:rs7675988 (human)
RGD
PMID:25231748
RGD:152995261
NCBI chr 4:155,383,245...155,425,479
Ensembl chr 4:167,157,770...167,214,065
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NDRG1
N-myc downstream regulated 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15341671
NCBI chr 8:129,891,918...129,952,489
Ensembl chr 8:132,866,245...132,926,514
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NF1
neurofibromin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25119042 PMID:26214590
NCBI chr17:25,425,081...25,703,689
Ensembl chr17:26,160,855...26,439,295
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NFKB1
nuclear factor kappa B subunit 1
ISO
DNA:insertion(s)
RGD
PMID:17492467
RGD:2298900
NCBI chr 4:94,925,048...95,040,849
Ensembl chr 4:105,589,062...105,704,098
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NFKBIA
NFKB inhibitor alpha
ISO
DNA:insertion(s)
RGD
PMID:17492467
RGD:2298900
NCBI chr14:16,155,331...16,158,588
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NFKBIE
NFKB inhibitor epsilon
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26343386
NCBI chr 6:43,853,921...43,861,686
Ensembl chr 6:45,138,209...45,144,680
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NGFR
nerve growth factor receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30339727
NCBI chr17:8,089,600...8,109,361
Ensembl chr17:8,075,316...8,094,966
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NPAP1
nuclear pore associated protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22842228
NCBI chr15:5,268,210...5,272,017
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NPPA
natriuretic peptide A
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:18004088
NCBI chr 1:10,608,025...10,610,287
Ensembl chr 1:11,825,072...11,827,373
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NRAS
NRAS proto-oncogene, GTPase
ISO
CTD Direct Evidence: marker/mechanism associated with Neoplasm Metastasis; DNA:mutation:multiple (human)
CTD RGD
PMID:22535842 PMID:22842228 PMID:23432625 PMID:25043973 PMID:25393105 PMID:26214590 PMID:29574239 More...
RGD:151660349
NCBI chr 1:87,837,146...87,850,013
Ensembl chr 1:122,890,505...122,903,585
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NT5DC1
5'-nucleotidase domain containing 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22535842
NCBI chr 6:113,903,473...114,051,784
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NUF2
NUF2 component of NDC80 kinetochore complex
disease_progression
ISO
RGD
PMID:27237743
RGD:28867234
NCBI chr 1:138,743,251...138,777,201
Ensembl chr 1:142,538,420...142,572,364
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NUS1
NUS1 dehydrodolichyl diphosphate synthase subunit
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22535842
NCBI chr 6:115,486,422...115,521,317
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PARP1
poly(ADP-ribose) polymerase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28759004
NCBI chr 1:201,820,355...201,867,673
Ensembl chr 1:206,812,981...206,860,356
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PAX4
paired box 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18949370
NCBI chr 7:119,605,924...119,613,579
Ensembl chr 7:132,260,859...132,268,516
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PAX6
paired box 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16778180
NCBI chr11:31,753,190...31,782,225
Ensembl chr11:31,641,813...31,664,474
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PCDHB8
protocadherin beta 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21499247
NCBI chr 5:136,538,882...136,543,805
Ensembl chr 5:142,654,990...142,657,395
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PDCD1
programmed cell death 1
treatment
ISO
CTD Direct Evidence: therapeutic associated with influenza
CTD RGD
PMID:21802280 PMID:27760326
RGD:40818261
NCBI chr12:130,849,353...130,858,776
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PHGDH
phosphoglycerate dehydrogenase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21804546
NCBI chr 1:82,803,155...82,835,465
Ensembl chr 1:117,800,843...117,833,462
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PIK3CA
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha
ISO
ClinVar Annotator: match by term: Malignant melanoma, somatic | ClinVar Annotator: match by term: 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 chr 3:176,182,765...176,272,024
Ensembl chr 3:184,355,785...184,441,977
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PIP4K2A
phosphatidylinositol-5-phosphate 4-kinase type 2 alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22535842
NCBI chr10:22,691,355...22,870,628
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PKMYT1
protein kinase, membrane associated tyrosine/threonine 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22535842
NCBI chr16:1,914,651...1,946,407
Ensembl chr16:3,082,265...3,094,477
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PLCB4
phospholipase C beta 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21499247
NCBI chr20:9,042,127...9,454,207
Ensembl chr20:9,192,061...9,456,443
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PMEL
premelanosome protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26640592
NCBI chr12:32,946,951...32,958,205
Ensembl chr12:33,196,040...33,207,610
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POMC
proopiomelanocortin
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:24412703
NCBI chr2A:25,161,668...25,165,600
Ensembl chr2A:25,258,768...25,262,706
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POT1
protection of telomeres 1
ISO
ClinVar Annotator: match by term: Malignant melanoma, somatic ClinVar Annotator: match by term: MELANOMA, MALIGNANT
ClinVar
PMID:24686846 PMID:25741868 PMID:26467025 PMID:28492532 PMID:30451293 PMID:30586141 PMID:34193977 PMID:36876055 PMID:37140166 More...
NCBI chr 7:116,807,913...116,926,998
Ensembl chr 7:129,487,571...129,605,558
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PPARD
peroxisome proliferator activated receptor delta
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:28962521
NCBI chr 6:34,903,798...34,987,208
Ensembl chr 6:36,003,988...36,081,132
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PPARG
peroxisome proliferator activated receptor gamma
ISO
CTD Direct Evidence: marker/mechanism|therapeutic
CTD
PMID:14512786 PMID:28962521
NCBI chr 3:12,215,322...12,361,669
Ensembl chr 3:12,622,397...12,705,060
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PPARGC1A
PPARG coactivator 1 alpha
severity
ISO
mRNA:increased expression:tumor (human)
RGD
PMID:23416000
RGD:7241823
NCBI chr 4:18,196,431...18,876,889
Ensembl chr 4:23,483,377...23,581,212
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PPP1R14B
protein phosphatase 1 regulatory inhibitor subunit 14B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22535842
NCBI chr11:59,601,594...59,604,050
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PPP6C
protein phosphatase 6 catalytic subunit
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22842228
NCBI chr 9:96,267,918...96,311,159
Ensembl chr 9:124,783,173...124,825,877
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PRDX2
peroxiredoxin 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16778180
NCBI chr19:12,359,084...12,363,552
Ensembl chr19:13,103,422...13,107,369
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PRSS23
serine protease 23
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22535842
NCBI chr11:81,855,594...81,866,321
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PTEN
phosphatase and tensin homolog
ISO
ClinVar Annotator: match by term: MELANOMA, MALIGNANT | ClinVar Annotator: match by term: Melanoma
ClinVar
PMID:1097835 PMID:9467011 PMID:10978354 PMID:11476841 PMID:16007494 PMID:16773562 PMID:21194675 PMID:21659347 PMID:21956414 PMID:22371648 PMID:24033266 PMID:24055113 PMID:24778394 PMID:25741868 PMID:25980754 PMID:28492532 PMID:29706350 PMID:29785012 PMID:30311380 PMID:31653154 PMID:32350270 PMID:32832836 PMID:32885271 PMID:34793697 PMID:38645101 More...
NCBI chr10:84,587,841...84,689,043
Ensembl chr10:88,093,539...88,194,605
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PTER
phosphotriesterase related
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22535842
NCBI chr10:16,754,485...16,830,379
Ensembl chr10:17,029,057...17,105,594
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PTGS2
prostaglandin-endoperoxide synthase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17145863 PMID:17499752 PMID:18454317
NCBI chr 1:162,205,534...162,214,130
Ensembl chr 1:166,355,845...166,364,519
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PTK2B
protein tyrosine kinase 2 beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19718025
NCBI chr 8:26,580,855...26,729,378
Ensembl chr 8:23,869,825...23,932,474
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PTPRK
protein tyrosine phosphatase receptor type K
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22535842 PMID:22842228
NCBI chr 6:125,753,656...126,312,124
Ensembl chr 6:129,864,573...130,421,644
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PTPRO
protein tyrosine phosphatase receptor type O
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21499247
NCBI chr12:15,329,314...15,594,787
Ensembl chr12:15,725,917...15,990,532
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QPCT
glutaminyl-peptide cyclotransferase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17145863
NCBI chr2A:37,371,848...37,400,820
Ensembl chr2A:38,136,532...38,165,254
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RAC1
Rac family small GTPase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22842228
NCBI chr 7:7,039,379...7,068,866
G
RAC2
Rac family small GTPase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17145863
NCBI chr22:18,138,517...18,159,023
Ensembl chr22:35,973,229...35,992,026
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RAI1
retinoic acid induced 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22535842
NCBI chr17:33,484,543...33,614,608
Ensembl chr17:38,431,946...38,461,861
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RAP1GAP
RAP1 GTPase activating protein
ISO
protein:decreased expression:epidermal melanocyte (human) CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:19147557 PMID:22614916
RGD:9835344
NCBI chr 1:20,790,076...20,860,511
Ensembl chr 1:21,754,733...21,824,405
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RASA2
RAS p21 protein activator 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26214590 PMID:26502337
NCBI chr 3:138,520,013...138,648,798
Ensembl chr 3:146,108,019...146,245,637
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RAX
retina and anterior neural fold homeobox
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16778180
NCBI chr18:52,664,243...52,669,177
Ensembl chr18:55,990,984...55,995,469
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REC8
REC8 meiotic recombination protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16778180
NCBI chr14:4,948,100...4,956,492
Ensembl chr14:23,071,724...23,079,948
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RFX6
regulatory factor X6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22535842
NCBI chr 6:114,686,132...114,741,072
Ensembl chr 6:118,828,973...118,883,884
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RHOB
ras homolog family member B
ISO
RGD
PMID:12606940
RGD:704376
NCBI chr2A:20,433,576...20,435,986
Ensembl chr2A:20,549,254...20,549,844
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RIN1
Ras and Rab interactor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22535842
NCBI chr11:61,697,751...61,702,501
Ensembl chr11:65,023,138...65,027,605
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RNASET2
ribonuclease T2
ISO
human cells in mouse model
RGD
PMID:27014725
RGD:153002831
NCBI chr 6:164,895,396...164,923,008
Ensembl chr 6:169,872,780...169,899,599
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ROS1
ROS proto-oncogene 1, receptor tyrosine kinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22535842
NCBI chr 6:115,095,753...115,234,525
Ensembl chr 6:119,238,419...119,376,053
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RPP38
ribonuclease P/MRP subunit p38
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22535842
NCBI chr10:15,413,026...15,420,170
Ensembl chr10:15,700,027...15,703,046
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RPS3
ribosomal protein S3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22535842
NCBI chr11:70,460,702...70,466,909
Ensembl chr11:73,762,794...73,768,982
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RTEL1
regulator of telomere elongation helicase 1
ISO
DNA:SNP:cds:rs75691080 (human)
RGD
PMID:25231748
RGD:152995261
Ensembl chr20:61,581,331...61,618,718
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S100A4
S100 calcium binding protein A4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29179997
NCBI chr 1:128,898,765...128,901,042
Ensembl chr 1:132,527,846...132,530,122
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SAC3D1
SAC3 domain containing 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22535842
NCBI chr11:60,397,122...60,401,157
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SETDB1
SET domain bifurcated histone lysine methyltransferase 1
severity
ISO
CTD Direct Evidence: marker/mechanism protein:increased expression:dermis, subcutis, nucleus (human)
CTD RGD
PMID:21983785 PMID:24673285
RGD:9590162
NCBI chr 1:126,275,719...126,314,043
Ensembl chr 1:129,925,009...129,962,442
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SF1
splicing factor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22535842
NCBI chr11:60,120,126...60,134,279
Ensembl chr11:63,461,318...63,473,355
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SIPA1
signal-induced proliferation-associated 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22535842
NCBI chr11:60,997,292...61,010,155
Ensembl chr11:64,335,136...64,344,955
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SLC15A2
solute carrier family 15 member 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22842228
NCBI chr 3:118,996,023...119,044,423
Ensembl chr 3:125,902,978...125,951,963
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SLC17A5
solute carrier family 17 member 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21499247
NCBI chr 6:71,404,354...71,477,511
Ensembl chr 6:74,702,447...74,760,557
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SLC25A45
solute carrier family 25 member 45
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22535842
NCBI chr11:60,736,975...60,747,380
Ensembl chr11:64,075,675...64,082,750
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SLC35G2
solute carrier family 35 member G2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16778180
NCBI chr 3:133,861,781...133,897,920
Ensembl chr 3:141,354,685...141,355,923
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SLC39A12
solute carrier family 39 member 12
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22535842
NCBI chr10:18,270,652...18,362,558
Ensembl chr10:18,541,859...18,698,851
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SLC45A2
solute carrier family 45 member 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18563784 PMID:21559390
NCBI chr 5:76,357,549...76,398,571
Ensembl chr 5:81,743,254...81,784,565
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SLC5A5
solute carrier family 5 member 5
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:12489024
NCBI chr19:17,352,635...17,377,130
Ensembl chr19:18,327,410...18,344,480
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SLC6A11
solute carrier family 6 member 11
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21499247
NCBI chr 3:10,753,412...10,878,333
Ensembl chr 3:11,101,336...11,222,948
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SOCS1
suppressor of cytokine signaling 1
ameliorates
ISO
RGD
PMID:19469017
RGD:150573701
NCBI chr16:10,196,432...10,198,205
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SOD2
superoxide dismutase 2
ISO
protein:increased expression:serum:
RGD
PMID:8541726
RGD:8547533
NCBI chr 6:157,562,814...157,610,155
Ensembl chr 6:162,576,082...162,589,960
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SOX2
SRY-box transcription factor 2
disease_progression
ISO
RGD
PMID:21410764
RGD:8661664
NCBI chr 3:178,744,881...178,747,392
Ensembl chr 3:186,922,705...186,923,662
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SPP1
secreted phosphoprotein 1
ISO
RGD
PMID:15757900
RGD:1581337
NCBI chr 4:80,263,711...80,271,466
Ensembl chr 4:90,988,200...90,995,935
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STIP1
stress induced phosphoprotein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22535842
NCBI chr11:59,542,760...59,560,758
Ensembl chr11:62,889,052...62,906,902
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STK11
serine/threonine kinase 11
ISO
ClinVar Annotator: match by term: MELANOMA, MALIGNANT | ClinVar Annotator: match by term: Melanoma
ClinVar
PMID:9760200 PMID:10201537 PMID:10208439 PMID:10353780 PMID:15188174 PMID:16287113 PMID:17319781 PMID:20435009 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:26580448 PMID:26898890 PMID:26928227 PMID:26976419 PMID:27443514 PMID:27467201 PMID:27621404 PMID:28135145 PMID:28202063 PMID:28492532 PMID:28821472 PMID:28873162 PMID:29368341 PMID:29458332 PMID:33471991 More...
Ensembl chr19:1,188,537...1,210,677
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STN1
STN1 subunit of CST complex
ISO
DNA:SNP:cds:rs9420907|rs2995264 (human)
RGD
PMID:25231748
RGD:152995261
NCBI chr10:100,456,589...100,518,010
Ensembl chr10:103,942,422...103,977,847
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STX17
syntaxin 17
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18641652
NCBI chr 9:70,989,913...71,058,374
Ensembl chr 9:99,107,243...99,168,801
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SYK
spleen associated tyrosine kinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17145863
NCBI chr 9:61,859,767...61,956,619
Ensembl chr 9:89,959,599...90,056,101
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SYT4
synaptotagmin 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21499247
NCBI chr18:36,540,756...36,550,439
Ensembl chr18:40,089,938...40,099,721
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TAS2R60
taste 2 receptor member 60
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21499247
NCBI chr 7:135,438,216...135,439,172
Ensembl chr 7:147,927,710...147,928,666
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TERT
telomerase reverse transcriptase
ISO
DNA:SNP:cds:rs455433|rs2736100 (human) CTD Direct Evidence: therapeutic mRNA:increased expression:plasma
RGD CTD
PMID:14654933 PMID:20856939 PMID:25231748
RGD:152995261 RGD:2291969
Ensembl chr 5:1,300,960...1,338,872
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TFPI2
tissue factor pathway inhibitor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17372906
NCBI chr 7:85,835,141...85,839,515
Ensembl chr 7:99,426,006...99,431,099
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TLR4
toll like receptor 4
ISO
DNA:polymorphisms:exons:p.D299G (896A>G)(human;) CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:22552381 PMID:22842228
RGD:7777154
NCBI chr 9:88,827,495...88,840,458
Ensembl chr 9:117,180,550...117,190,711
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TMEM132B
transmembrane protein 132B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21499247
NCBI chr12:122,783,140...123,248,488
Ensembl chr12:127,203,188...127,523,208
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TMEM30B
transmembrane protein 30B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16778180
NCBI chr14:41,880,759...41,882,090
Ensembl chr14:60,138,410...60,139,780
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TNC
tenascin C
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22842228
NCBI chr 9:86,125,672...86,222,804
Ensembl chr 9:114,486,778...114,584,299
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TNF
tumor necrosis factor
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:9794839 PMID:9843018 PMID:10379864 PMID:18388930
NCBI chr 6:31,236,650...31,239,423
Ensembl chr 6:32,126,618...32,129,381
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TNFRSF19
TNF receptor superfamily member 19
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17187358
NCBI chr13:4,880,340...4,986,160
Ensembl chr13:23,174,613...23,280,316
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TP53
tumor protein p53
ISO
ClinVar Annotator: match by term: Malignant melanoma, somatic ClinVar Annotator: match by term: Malignant Melanoma Susceptibility | ClinVar Annotator: match by term: Malignant melanoma, somatic | ClinVar Annotator: match by term: Melanoma ClinVar Annotator: match by term: MELANOMA, MALIGNANT | ClinVar Annotator: match by term: Malignant melanoma, somatic ClinVar Annotator: match by term: Malignant melanoma | ClinVar Annotator: match by term: Malignant melanoma, somatic
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:2113594 PMID:2826609 PMID:3784963 PMID:6736287 PMID:7651740 PMID:7707106 PMID:7718482 PMID:7732013 PMID:7881428 PMID:7885831 PMID:7887414 PMID:8023157 PMID:8062826 PMID:8080050 PMID:8099841 PMID:8118819 PMID:8164043 PMID:8308926 PMID:8336941 PMID:8344492 PMID:8364550 PMID:8401536 PMID:8402598 PMID:8423216 PMID:8425176 PMID:8464896 PMID:8479749 PMID:8527048 PMID:8631304 PMID:8633021 PMID:8649776 PMID:8688334 PMID:8718514 PMID:8825920 PMID:8829627 PMID:8829653 PMID:8869100 PMID:9049183 PMID:9049184 PMID:9150393 PMID:9242456 PMID:9290701 PMID:9364015 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:10229196 PMID:10411893 PMID:10432928 PMID:10519380 PMID:10567903 PMID:10589545 PMID:10616528 PMID:10713666 PMID:10732753 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:11867759 PMID:11896595 PMID:11920788 PMID:11920959 PMID:12007217 PMID:12034820 PMID:12124823 PMID:12509279 PMID:12672316 PMID:12702523 PMID:12726864 PMID:12782597 PMID:12826609 PMID:12909720 PMID:12917626 PMID:14559903 PMID:14584079 PMID:14743206 PMID:15004724 PMID:15017592 PMID:15037740 PMID:15077194 PMID:15138567 PMID:15161705 PMID:15381368 PMID:15390294 PMID:15541116 PMID:15580553 PMID:15607980 PMID:15607981 PMID:15722483 PMID:15825182 PMID:15850016 PMID:15925506 PMID:15951970 PMID: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:19367569 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:20586629 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:22540896 PMID:22553421 PMID:22672556 PMID:22713868 PMID:22811390 PMID:22822097 PMID:22844452 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:23315175 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:24395441 PMID:24487413 PMID:24501221 PMID:24573247 PMID:24603336 PMID:24641375 PMID:24651012 PMID:24651015 PMID:24677579 PMID:24702488 PMID:24728327 PMID:24744791 PMID:24766216 PMID:24810334 PMID:24857548 PMID:25123297 PMID:25157968 PMID:25186627 PMID:25256166 PMID:25293557 PMID:25326637 PMID:25339994 PMID:25404506 PMID:25428789 PMID:25433984 PMID:25503501 PMID:25525159 PMID:25584008 PMID:25584637 PMID:25587027 PMID:25612911 PMID:25619955 PMID:25741868 PMID:25757876 PMID:25765855 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:26580448 PMID:26585234 PMID:26619011 PMID:26655088 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:27557517 PMID:27616075 PMID:27680515 PMID:27683180 PMID:27714481 PMID:27724982 PMID:27730344 PMID:27813088 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:28772286 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:29666004 PMID:29752822 PMID:29753700 PMID:29979965 PMID:30076369 PMID:30128536 PMID:30152528 PMID:30216591 PMID:30224644 PMID:30287823 PMID:30297838 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:32371905 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:33840814 PMID:34026625 PMID:34240179 PMID:34266904 PMID:34675114 PMID:34793666 PMID:34805717 PMID:35033608 PMID:35127508 PMID:35820297 PMID:35938033 PMID:36988593 More...
NCBI chr17:7,699,449...7,717,812
Ensembl chr17:7,684,922...7,706,120
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TRRAP
transformation/transcription domain associated protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21499247
NCBI chr 7:90,845,518...90,981,700
Ensembl chr 7:104,351,320...104,486,722
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TSPYL4
TSPY like 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22535842
NCBI chr 6:114,052,540...114,056,709
Ensembl chr 6:118,201,097...118,202,341
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TYR
tyrosinase
disease_progression
ISO
CTD Direct Evidence: marker/mechanism
RGD CTD
PMID:8609659 PMID:18488027 PMID:19578364 PMID:21559390 PMID:22834951 PMID:26640592 More...
RGD:8694384 RGD:8694387
NCBI chr11:84,188,557...84,306,686
Ensembl chr11:87,769,606...87,888,138
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TYRP1
tyrosinase related protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26640592
NCBI chr 9:12,502,610...12,550,203
Ensembl chr 9:12,950,831...12,996,799
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UGT2B10
UDP glucuronosyltransferase family 2 member B10
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21499247
NCBI chr 4:55,268,202...55,283,297
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USP6NL
USP6 N-terminal like
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22535842
NCBI chr10:11,470,413...11,542,608
Ensembl chr10:11,453,137...11,590,863
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VDR
vitamin D receptor
disease_progression severity
ISO
DNA:SNPs:exons: (rs731236, rs2228570) (human) DNA:SNP:promoter:rs4516035 (human)
RGD
PMID:10690530 PMID:19105801
RGD:8158067 RGD:8158068
NCBI chr12:40,828,413...40,891,700
Ensembl chr12:41,702,742...41,766,192
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VEGFA
vascular endothelial growth factor A
disease_progression
ISO
RGD
PMID:12946796
RGD:7421569
NCBI chr 6:43,361,053...43,377,366
Ensembl chr 6:44,650,365...44,666,353
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VEGFC
vascular endothelial growth factor C
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17562445
NCBI chr 4:168,870,941...168,999,160
Ensembl chr 4:181,104,737...181,236,030
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VGLL2
vestigial like family member 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22535842
NCBI chr 6:115,073,919...115,082,212
Ensembl chr 6:119,215,683...119,223,541
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WDR74
WD repeat domain 74
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22535842
NCBI chr11:58,188,230...58,195,538
Ensembl chr11:61,542,300...61,549,426
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WFDC1
WAP four-disulfide core domain 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17145863
NCBI chr16:64,958,920...64,994,314
Ensembl chr16:84,301,168...84,333,432
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XRCC3
X-ray repair cross complementing 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11059748
NCBI chr14:84,323,644...84,341,763
Ensembl chr14:104,131,903...104,149,037
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ZNF438
zinc finger protein 438
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22535842
NCBI chr10:30,976,767...31,163,679
Ensembl chr10:31,329,887...31,339,111
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ZNF831
zinc finger protein 831
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21499247
NCBI chr20:55,498,545...55,611,830
Ensembl chr20:56,859,452...56,971,937
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IFNB1
interferon beta 1
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:15990972
NCBI chr 9:20,884,742...20,886,317
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ACSS1
acyl-CoA synthetase short chain family member 1
treatment
ISO
RGD
PMID:27539851
RGD:13831304
NCBI chr20:24,946,629...25,001,311
Ensembl chr20:25,293,511...25,349,017
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ACSS2
acyl-CoA synthetase short chain family member 2
treatment
ISO
RGD
PMID:27539851
RGD:13831304
NCBI chr20:31,205,104...31,256,263
Ensembl chr20:32,329,721...32,380,526
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ANTXR1
ANTXR cell adhesion molecule 1
treatment
ISO
RGD
PMID:19609240 PMID:19622764
RGD:9684925 RGD:9684939
NCBI chr2A:69,054,253...69,290,554
Ensembl chr2A:70,175,982...70,412,454
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BRAF
B-Raf proto-oncogene, serine/threonine kinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29179997 PMID:29438700
NCBI chr 7:132,651,908...132,855,422
Ensembl chr 7:145,138,510...145,327,115
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CALR
calreticulin
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:16388313
NCBI chr19:12,501,013...12,506,909
Ensembl chr19:13,242,900...13,249,416
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CCL20
C-C motif chemokine ligand 20
treatment
ISO
RGD
PMID:14500387
RGD:7483600
NCBI chr2B:115,052,768...115,056,479
Ensembl chr2B:233,862,505...233,866,225
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CTLA4
cytotoxic T-lymphocyte associated protein 4
treatment
ISO
RGD
PMID:24041689
RGD:7411680
NCBI chr2B:91,054,917...91,106,234
Ensembl chr2B:209,239,417...209,244,498
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EGR1
early growth response 1
ISO
mRNA, protein:increased expression:salivary gland (mouse)
RGD
PMID:19517020
RGD:5131885
NCBI chr 5:133,845,305...133,849,291
Ensembl chr 5:139,975,635...139,979,260
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ESR2
estrogen receptor 2
severity
ISO
RGD
PMID:20354658
RGD:8694122
NCBI chr14:44,807,875...44,919,780
Ensembl chr14:63,064,402...63,131,303
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HGF
hepatocyte growth factor
ISO
RGD
PMID:9823327
RGD:8548620
NCBI chr 7:73,667,618...73,738,960
Ensembl chr 7:87,327,798...87,397,811
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IFNB1
interferon beta 1
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:16417267
NCBI chr 9:20,884,742...20,886,317
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IKBKB
inhibitor of nuclear factor kappa B kinase subunit beta
ISO
RGD
PMID:19276165
RGD:7495758
NCBI chr 8:41,515,613...41,576,229
Ensembl chr 8:38,960,594...39,020,971
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IL18
interleukin 18
treatment
ISO
RGD
PMID:12230493 PMID:17411412
RGD:8655870 RGD:8655901
NCBI chr11:107,024,376...107,045,194
Ensembl chr11:110,867,586...110,888,371
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IL1A
interleukin 1 alpha
treatment
ISO
RGD
PMID:8061895
RGD:7794735
NCBI chr2A:89,273,482...89,284,421
Ensembl chr2A:113,784,854...113,795,801
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IL1B
interleukin 1 beta
ISO
RGD
PMID:1966551
RGD:7401226
NCBI chr2A:89,216,313...89,223,358
Ensembl chr2A:113,846,306...113,853,424
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IL2
interleukin 2
ISO
RGD
PMID:11884028
RGD:8662950
NCBI chr 4:114,637,328...114,642,586
Ensembl chr 4:125,782,563...125,787,984
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KDM1A
lysine demethylase 1A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29438700
NCBI chr 1:22,205,624...22,269,571
Ensembl chr 1:23,153,066...23,217,692
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KDM4C
lysine demethylase 4C
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29438700
NCBI chr 9:6,568,569...6,978,741
Ensembl chr 9:6,746,265...7,155,298
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MC1R
melanocortin 1 receptor
ISO
RGD
PMID:20126537
RGD:5687319
NCBI chr16:70,676,447...70,697,636
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PDCD1
programmed cell death 1
treatment
ISO
RGD
PMID:19208793
RGD:9589070
NCBI chr12:130,849,353...130,858,776
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PTEN
phosphatase and tensin homolog
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29179997
NCBI chr10:84,587,841...84,689,043
Ensembl chr10:88,093,539...88,194,605
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PXN
paxillin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18492274
NCBI chr12:117,785,614...117,840,816
Ensembl chr12:121,160,295...121,176,667
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TERT
telomerase reverse transcriptase
treatment
ISO
RGD
PMID:19903903
RGD:11038656
Ensembl chr 5:1,300,960...1,338,872
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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 chr12:31,187,821...31,201,594
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ARHGAP9
Rho GTPase activating protein 9
ISO
ClinVar Annotator: match by term: Familial melanoma
ClinVar
PMID:28492532
NCBI chr12:31,445,732...31,453,763
Ensembl chr12:31,693,309...31,710,064
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ARHGEF25
Rho guanine nucleotide exchange factor 25
ISO
ClinVar Annotator: match by term: Familial melanoma
ClinVar
PMID:28492532
NCBI chr12:31,309,527...31,316,648
Ensembl chr12:31,569,173...31,575,971
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B4GALNT1
beta-1,4-N-acetyl-galactosaminyltransferase 1
ISO
ClinVar Annotator: match by term: Familial melanoma
ClinVar
PMID:28492532
NCBI chr12:31,293,531...31,303,341
Ensembl chr12:31,553,671...31,562,988
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BAP1
BRCA1 associated deubiquitinase 1
ISO
ClinVar Annotator: match by term: Familial melanoma
ClinVar
PMID:21874000 PMID:23684012 PMID:25741868 PMID:28492532
NCBI chr 3:52,344,067...52,352,187
Ensembl chr 3:53,573,785...53,581,943
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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, 10
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:20186801 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:28783719 PMID:29540830 PMID:30986545 PMID:34411415 More...
NCBI chr 7:132,651,908...132,855,422
Ensembl chr 7:145,138,510...145,327,115
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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, 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: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 ClinVar Annotator: match by term: Cutaneous Malignant Melanoma, Dominant | ClinVar Annotator: match by term: Cutaneous malignant melanoma 5 | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 ClinVar Annotator: match by term: Cutaneous Malignant Melanoma, Dominant | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 2 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 ClinVar Annotator: match by term: Cutaneous Malignant Melanoma, Dominant | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5
OMIM ClinVar
PMID:5377176 PMID:7652577 PMID:8528263 PMID:8968104 PMID:9228064 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 chr12:31,174,446...31,178,597
Ensembl chr12:31,434,594...31,438,876
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CDKN2A
cyclin dependent kinase inhibitor 2A
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, 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 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:27074266 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:31419753 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:33397043 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:36243179 PMID:36315513 PMID:36628896 PMID:36969747 PMID:36988593 PMID:37322831 PMID:37422710 PMID:37557112 PMID:37611275 PMID:37762649 PMID:109563903 More...
NCBI chr 9:21,803,862...21,831,322
G
CDKN2B
cyclin dependent kinase inhibitor 2B
ISO
ClinVar Annotator: match by term: Familial melanoma
ClinVar
PMID:9622062 PMID:28492532
NCBI chr 9:21,838,902...21,845,355
Ensembl chr 9:22,455,662...22,462,156
G
CYP27B1
cytochrome P450 family 27 subfamily B member 1
ISO
ClinVar Annotator: match by term: Familial melanoma
ClinVar
PMID:28492532
NCBI chr12:31,158,814...31,164,462
Ensembl chr12:31,419,773...31,424,822
G
DCTN2
dynactin subunit 2
ISO
ClinVar Annotator: match by term: Familial melanoma
ClinVar
PMID:28492532
NCBI chr12:31,379,531...31,396,570
Ensembl chr12:31,636,884...31,655,458
G
DDIT3
DNA damage inducible transcript 3
ISO
ClinVar Annotator: match by term: Familial melanoma
ClinVar
PMID:28492532
NCBI chr12:31,406,332...31,410,293
Ensembl chr12:31,664,743...31,668,701
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 chr 3:52,233,271...52,342,627
Ensembl chr 3:53,491,822...53,572,393
G
DTX3
deltex E3 ubiquitin ligase 3
ISO
ClinVar Annotator: match by term: Familial melanoma
ClinVar
PMID:28492532
NCBI chr12:31,316,968...31,322,340
Ensembl chr12:31,577,001...31,579,669
G
EEF1AKMT3
EEF1A lysine methyltransferase 3
ISO
ClinVar Annotator: match by term: Familial melanoma
ClinVar
PMID:28492532
Ensembl chr12:31,404,783...31,415,595
G
FANCA
FA complementation group A
ISO
ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5
ClinVar
PMID:28492532
NCBI chr16:70,495,310...70,579,275
Ensembl chr16:90,163,950...90,245,147
G
GLI1
GLI family zinc finger 1
ISO
ClinVar Annotator: match by term: Familial melanoma
ClinVar
PMID:28492532
NCBI chr12:31,453,759...31,466,194
Ensembl chr12:31,710,057...31,722,473
G
INHBC
inhibin subunit beta C
ISO
ClinVar Annotator: match by term: Familial melanoma
ClinVar
PMID:28492532
NCBI chr12:31,473,809...31,494,746
Ensembl chr12:31,732,208...31,747,391
G
INHBE
inhibin subunit beta E
ISO
ClinVar Annotator: match by term: Familial melanoma
ClinVar
PMID:28492532
NCBI chr12:31,467,974...31,470,700
Ensembl chr12:31,724,252...31,726,978
G
KIF5A
kinesin family member 5A
ISO
ClinVar Annotator: match by term: Familial melanoma
ClinVar
PMID:28492532
NCBI chr12:31,340,201...31,376,849
Ensembl chr12:31,599,376...31,635,327
G
KLC1
kinesin light chain 1
ISO
ClinVar Annotator: match by term: Cutaneous malignant melanoma 6
ClinVar
PMID:11059748 PMID:28492532
NCBI chr14:84,255,959...84,326,767
Ensembl chr14:104,065,775...104,135,818
G
LRP1
LDL receptor related protein 1
ISO
ClinVar Annotator: match by term: Familial melanoma
ClinVar
PMID:28492532
NCBI chr12:31,713,938...31,799,287
Ensembl chr12:31,966,149...32,051,979
G
MARCHF9
membrane associated ring-CH-type finger 9
ISO
ClinVar Annotator: match by term: Familial melanoma
ClinVar
PMID:28492532
NCBI chr12:31,167,057...31,174,930
G
MARS1
methionyl-tRNA synthetase 1
ISO
ClinVar Annotator: match by term: Familial melanoma
ClinVar
PMID:28492532
NCBI chr12:31,410,231...31,438,015
Ensembl chr12:31,668,708...31,693,839
G
MBD6
methyl-CpG binding domain protein 6
ISO
ClinVar Annotator: match by term: Familial melanoma
ClinVar
PMID:28492532
NCBI chr12:31,396,733...31,404,126
Ensembl chr12:31,655,461...31,664,638
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
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:26800492 PMID:27084066 PMID:27229376 PMID:27473757 PMID:28242083 PMID:28492532 PMID:28869973 PMID:29340229 PMID:31382929 More...
NCBI chr16:70,676,447...70,697,636
G
METTL1
methyltransferase 1, tRNA methylguanosine
ISO
ClinVar Annotator: match by term: Familial melanoma
ClinVar
PMID:28492532
NCBI chr12:31,154,374...31,158,175
Ensembl chr12:31,414,941...31,418,588
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: 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 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:20478267 PMID:22012259 PMID:22080950 PMID:22158021 PMID:22320238 PMID:23167872 PMID:23774529 PMID:23787126 PMID:23802662 PMID:24033266 PMID:24194866 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:27759048 PMID:27889061 PMID:28125078 PMID:28152038 PMID:28376192 PMID:28492532 PMID:28690485 PMID:28825054 PMID:29115496 PMID:29407415 PMID:29484430 PMID:29506128 PMID:29531335 PMID:29625052 PMID:29706638 PMID:30311386 PMID:30394532 PMID:30414346 PMID:31465090 PMID:32054529 PMID:32728090 PMID:33051548 PMID:33240314 PMID:34142234 PMID:34289891 PMID:34662886 PMID:34997062 PMID:36451132 More...
NCBI chr 3:69,674,064...69,902,078
Ensembl chr 3:71,037,665...71,265,445
G
NDUFA4L2
NDUFA4 mitochondrial complex associated like 2
ISO
ClinVar Annotator: match by term: Familial melanoma
ClinVar
PMID:28492532
NCBI chr12:31,686,325...31,692,483
Ensembl chr12:31,940,681...31,944,813
G
NXPH4
neurexophilin 4
ISO
ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10
ClinVar
PMID:28492532
NCBI chr12:31,700,935...31,710,526
Ensembl chr12:31,953,259...31,962,757
G
OS9
OS9 endoplasmic reticulum lectin
ISO
ClinVar Annotator: match by term: Familial melanoma
ClinVar
PMID:28492532
NCBI chr12:31,205,239...31,232,769
Ensembl chr12:31,463,716...31,493,076
G
PIP4K2C
phosphatidylinositol-5-phosphate 4-kinase type 2 gamma
ISO
ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10
ClinVar
PMID:28492532
NCBI chr12:31,323,346...31,335,626
Ensembl chr12:31,584,534...31,594,808
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, 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 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:33122293 PMID:33216348 PMID:33525650 PMID:33782098 PMID:33941849 PMID:34193977 PMID:34769003 PMID:35456397 PMID:35727838 PMID:36113475 PMID:36539277 PMID:36876055 PMID:37140166 PMID:38688277 More...
NCBI chr 7:116,807,913...116,926,998
Ensembl chr 7:129,487,571...129,605,558
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 PMID:29706350 PMID:29785012 PMID:30311380 PMID:32350270 PMID:32832836 PMID:32885271 PMID:34793697 PMID:38645101 More...
NCBI chr10:84,587,841...84,689,043
Ensembl chr10:88,093,539...88,194,605
G
R3HDM2
R3H domain containing 2
ISO
ClinVar Annotator: match by term: Familial melanoma
ClinVar
PMID:28492532
NCBI chr12:31,494,789...31,672,343
Ensembl chr12:31,868,368...31,923,910
G
SHMT2
serine hydroxymethyltransferase 2
ISO
ClinVar Annotator: match by term: Familial melanoma
ClinVar
PMID:28492532
NCBI chr12:31,692,451...31,697,727
Ensembl chr12:31,944,785...31,950,138
G
SPIRE2
spire type actin nucleation factor 2
ISO
ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5
ClinVar
PMID:28492532
NCBI chr16:70,580,030...70,634,143
Ensembl chr16:90,273,160...90,299,061
G
STAC3
SH3 and cysteine rich domain 3
ISO
ClinVar Annotator: match by term: Familial melanoma
ClinVar
PMID:28492532
NCBI chr12:31,674,537...31,683,917
Ensembl chr12:31,928,955...31,936,251
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: 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 PMID:10780518 PMID:11668633 PMID:15188174 PMID:15800014 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:26580448 PMID:26928227 PMID:26979979 PMID:27467201 PMID:27978560 PMID:28135145 PMID:28492532 PMID:28944238 PMID:29045518 PMID:29368341 PMID:30093976 PMID:30287823 PMID:30885352 PMID:31159747 PMID:31742824 PMID:32647375 PMID:32658311 PMID:33020649 PMID:33471991 PMID:34326862 PMID:34849607 PMID:35264596 More...
Ensembl chr19:1,188,537...1,210,677
G
TCF25
TCF25 ribosome quality control complex subunit
ISO
ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5
ClinVar
PMID:28492532
NCBI chr16:70,636,413...70,675,841
Ensembl chr16:90,298,175...90,340,048
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: 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
OMIM ClinVar
PMID:15814878 PMID:19561322 PMID:20301779 PMID:20871597 PMID:21436073 PMID:22037553 PMID:23066086 PMID:23348503 PMID:23535731 PMID:23901009 PMID:24833766 PMID:25741868 PMID:26136524 PMID:26194807 PMID:26365799 PMID:26433962 PMID:28154186 PMID:28492532 PMID:28813500 PMID:28818973 PMID:29036293 PMID:29483670 PMID:31395865 PMID:35776903 More...
Ensembl chr 5:1,300,960...1,338,872
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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 chr17:7,699,449...7,717,812
Ensembl chr17:7,684,922...7,706,120
G
TSFM
Ts translation elongation factor, mitochondrial
ISO
ClinVar Annotator: match by term: Familial melanoma
ClinVar
PMID:28492532
NCBI chr12:31,123,500...31,154,310
Ensembl chr12:31,404,783...31,415,595 Ensembl chr12:31,404,783...31,415,595
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 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 PMID:24728327 PMID:24755471 PMID:25186627 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 chr12:31,178,439...31,188,737
Ensembl chr12:31,438,856...31,442,267
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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 chr11:84,188,557...84,306,686
Ensembl chr11:87,769,606...87,888,138
G
XRCC3
X-ray repair cross complementing 3
ISO
ClinVar Annotator: match by term: Cutaneous malignant melanoma 6
ClinVar OMIM
PMID:11059748 PMID:28492532
NCBI chr14:84,323,644...84,341,763
Ensembl chr14:104,131,903...104,149,037
G
CDKN2A
cyclin dependent kinase inhibitor 2A
ISO
ClinVar Annotator: match by term: Melanoma and neural system tumor syndrome | ClinVar Annotator: match by term: Melanoma astrocytoma syndrome
OMIM ClinVar
PMID:865368 PMID:2677576 PMID:5001868 PMID:7566978 PMID:7640518 PMID:7647780 PMID:7666917 PMID:7718873 PMID:7780957 PMID:7796400 PMID:7881419 PMID:7987387 PMID:7987388 PMID:8012957 PMID:8213823 PMID:8521414 PMID:8552158 PMID:8552400 PMID:8570179 PMID:8573142 PMID:8595405 PMID:8603820 PMID:8653684 PMID:8668202 PMID:8710906 PMID:8723678 PMID:8727306 PMID:8755727 PMID:8880901 PMID:9036865 PMID:9053859 PMID:9132280 PMID:9166859 PMID:9324288 PMID:9328469 PMID:9389568 PMID:9416844 PMID:9425228 PMID:9516223 PMID:9536098 PMID:9603434 PMID:9699728 PMID:9751050 PMID:9823374 PMID:9856841 PMID:9916806 PMID:10229204 PMID:10389768 PMID:10390011 PMID:10398427 PMID:10491434 PMID:10498896 PMID:10508477 PMID:10627132 PMID:10667595 PMID:10719365 PMID:10738302 PMID:10869234 PMID:10871849 PMID:10874641 PMID:10892805 PMID:10922411 PMID:10951521 PMID:10956390 PMID:11075991 PMID:11136714 PMID:11156381 PMID:11319798 PMID:11477665 PMID:11500805 PMID:11506491 PMID:11518711 PMID:11556834 PMID:11571653 PMID:11579459 PMID:11595726 PMID:11687599 PMID:11726555 PMID:11807902 PMID:11815963 PMID:12001124 PMID:12072543 PMID:12352668 PMID:12454511 PMID:12517341 PMID:12606942 PMID:12700603 PMID:12853981 PMID:14508519 PMID:14646620 PMID:14679123 PMID:14722037 PMID:15009729 PMID:15075790 PMID:15146471 PMID:15150307 PMID:15235029 PMID:15761864 PMID:15856016 PMID:15860862 PMID:15863662 PMID:15945100 PMID:16169933 PMID:16171945 PMID:16234564 PMID:16307646 PMID:16354195 PMID:16397522 PMID:16818274 PMID:16893909 PMID:16896043 PMID:16905682 PMID:17047042 PMID:17055252 PMID:17167857 PMID:17171691 PMID:17218939 PMID:17397031 PMID:17440112 PMID:17492760 PMID:17576681 PMID:17713569 PMID:17909018 PMID:17992122 PMID:18023021 PMID:18024887 PMID:18025365 PMID:18178632 PMID:18335566 PMID:18337833 PMID:18363633 PMID:18519632 PMID:18573309 PMID:18803811 PMID:18813118 PMID:18843795 PMID:18981015 PMID:18983535 PMID:19260062 PMID:19331830 PMID:19360740 PMID:19484507 PMID:19500876 PMID:19523171 PMID:19571771 PMID:19712690 PMID:19799798 PMID:20093296 PMID:20340136 PMID:20526219 PMID:20539244 PMID:20653773 PMID:20876876 PMID:21085193 PMID:21150883 PMID:21325014 PMID:21462282 PMID:21507037 PMID:21614589 PMID:21801156 PMID:21893440 PMID:22368299 PMID:22440936 PMID:22447455 PMID:22561520 PMID:22636603 PMID:22804906 PMID:22841127 PMID:23190892 PMID:23371019 PMID:23897584 PMID:24185512 PMID:24436120 PMID:24659262 PMID:24660985 PMID:24728327 PMID:24733792 PMID:24737347 PMID:24935963 PMID:25023876 PMID:25064638 PMID:25078331 PMID:25149524 PMID:25186627 PMID:25227142 PMID:25356972 PMID:25685612 PMID:25741868 PMID:25780468 PMID:25787093 PMID:25803691 PMID:25813228 PMID:25877891 PMID:25980754 PMID:26104880 PMID:26206375 PMID:26223839 PMID:26225579 PMID:26381259 PMID:26467025 PMID:26542317 PMID:26581427 PMID:26650189 PMID:26650572 PMID:26658419 PMID:26670561 PMID:26681309 PMID:26775776 PMID:26845104 PMID:26918361 PMID:27077911 PMID:27181379 PMID:27267843 PMID:27287845 PMID:27756164 PMID:27804060 PMID:27960642 PMID:27993330 PMID:28060055 PMID:28135145 PMID:28146043 PMID:28188106 PMID:28440912 PMID:28454591 PMID:28492532 PMID:28592523 PMID:28640387 PMID:28717660 PMID:28726808 PMID:28765326 PMID:28830827 PMID:28873162 PMID:28944238 PMID:28979722 PMID:29091774 PMID:29263814 PMID:29316957 PMID:29464027 PMID:29506128 PMID:29541281 PMID:29543703 PMID:29641532 PMID:29661971 PMID:29684080 PMID:29700634 PMID:29774366 PMID:29922827 PMID:29945567 PMID:29983899 PMID:30038052 PMID:30039340 PMID:30113427 PMID:30207590 PMID:30274933 PMID:30291219 PMID:30303537 PMID:30339520 PMID:30548481 PMID:30709382 PMID:30967399 PMID:31382929 PMID:31432501 PMID:31517177 PMID:31567591 PMID:31721094 PMID:31856090 PMID:31921681 PMID:32113160 PMID:32191290 PMID:32455486 PMID:32482799 PMID:32659967 PMID:32957588 PMID:33050356 PMID:33322357 PMID:33436027 PMID:33753322 PMID:33766116 PMID:33823155 PMID:33945383 PMID:34028844 PMID:34069252 PMID:34069952 PMID:34369425 PMID:35001868 PMID:35029067 PMID:35171259 PMID:35264596 PMID:35566480 PMID:35777164 PMID:37422710 PMID:37762649 PMID:109563903 More...
NCBI chr 9:21,803,862...21,831,322
G
CDKN2A
cyclin dependent kinase inhibitor 2A
ISO
ClinVar Annotator: match by term: Melanoma-pancreatic cancer syndrome
OMIM ClinVar
PMID:2319082 PMID:2813514 PMID:5001868 PMID:7566978 PMID:7632931 PMID:7640518 PMID:7647780 PMID:7666917 PMID:7670475 PMID:7718873 PMID:7777061 PMID:7780957 PMID:7881419 PMID:7882348 PMID:7923152 PMID:7970734 PMID:7972006 PMID:7987387 PMID:7987388 PMID:8012957 PMID:8521414 PMID:8552158 PMID:8552400 PMID:8561866 PMID:8570179 PMID:8573142 PMID:8595405 PMID:8595411 PMID:8603820 PMID:8653684 PMID:8668202 PMID:8710906 PMID:8723678 PMID:8727306 PMID:8755727 PMID:8841025 PMID:9036865 PMID:9049826 PMID:9053859 PMID:9133447 PMID:9166859 PMID:9185756 PMID:9212218 PMID:9324288 PMID:9389568 PMID:9416844 PMID:9425228 PMID:9473234 PMID:9516223 PMID:9660926 PMID:9699728 PMID:9751050 PMID:9782052 PMID:9808520 PMID:9823374 PMID:9856796 PMID:9856841 PMID:9916806 PMID:9935245 PMID:10229204 PMID:10389768 PMID:10390011 PMID:10398427 PMID:10400925 PMID:10491434 PMID:10498896 PMID:10508477 PMID:10627132 PMID:10667595 PMID:10719365 PMID:10738302 PMID:10854221 PMID:10869234 PMID:10874641 PMID:10892805 PMID:10951521 PMID:10956390 PMID:11058911 PMID:11075991 PMID:11156381 PMID:11360201 PMID:11433531 PMID:11477665 PMID:11500805 PMID:11506491 PMID:11518711 PMID:11556834 PMID:11579459 PMID:11595726 PMID:11687599 PMID:11807902 PMID:11815963 PMID:12001124 PMID:12072543 PMID:12352668 PMID:12417040 PMID:12461329 PMID:12485439 PMID:12517341 PMID:12532425 PMID:12538475 PMID:12549483 PMID:12606942 PMID:12700603 PMID:12853981 PMID:12894891 PMID:12920094 PMID:14508519 PMID:14646620 PMID:14679123 PMID:14735200 PMID:15075790 PMID:15122588 PMID:15146471 PMID:15173226 PMID:15235029 PMID:15705881 PMID:15761864 PMID:15860862 PMID:15863662 PMID:15945100 PMID:16169933 PMID:16234564 PMID:16354195 PMID:16397522 PMID:16614725 PMID:16818274 PMID:16896043 PMID:16905682 PMID:17047042 PMID:17055252 PMID:17167857 PMID:17218939 PMID:17255954 PMID:17370310 PMID:17397031 PMID:17625456 PMID:17713569 PMID:17909018 PMID:18023021 PMID:18025365 PMID:18178632 PMID:18335566 PMID:18337833 PMID:18363633 PMID:18519632 PMID:18538737 PMID:18573309 PMID:18714178 PMID:18803811 PMID:18813118 PMID:18843795 PMID:18981015 PMID:18983535 PMID:19141585 PMID:19260062 PMID:19320745 PMID:19331830 PMID:19360740 PMID:19500876 PMID:19523171 PMID:19571771 PMID:19690981 PMID:19712690 PMID:19725989 PMID:19799798 PMID:20093296 PMID:20340136 PMID:20340316 PMID:20505745 PMID:20539244 PMID:20653773 PMID:20876876 PMID:21085193 PMID:21150883 PMID:21325014 PMID:21462282 PMID:21614589 PMID:21801156 PMID:21893440 PMID:22292911 PMID:22368299 PMID:22440936 PMID:22636603 PMID:22703879 PMID:22804906 PMID:22841127 PMID:22995991 PMID:23190892 PMID:23371019 PMID:23613284 PMID:23897584 PMID:24033266 PMID:24185512 PMID:24659262 PMID:24660985 PMID:24728327 PMID:24733792 PMID:24737347 PMID:25023876 PMID:25064638 PMID:25078331 PMID:25186627 PMID:25227142 PMID:25318351 PMID:25356972 PMID:25372287 PMID:25479140 PMID:25685612 PMID:25741868 PMID:25780468 PMID:25787093 PMID:25803691 PMID:25846456 PMID:25980754 PMID:26104880 PMID:26205736 PMID:26206375 PMID:26225579 PMID:26295973 PMID:26381259 PMID:26467025 PMID:26474073 PMID:26483394 PMID:26498684 PMID:26581427 PMID:26601054 PMID:26650189 PMID:26650572 PMID:26658419 PMID:26670561 PMID:26681309 PMID:26775776 PMID:26845104 PMID:26876133 PMID:26976419 PMID:27181379 PMID:27267843 PMID:27473757 PMID:27621404 PMID:27626068 PMID:27701467 PMID:27756164 PMID:27804060 PMID:27960642 PMID:27978560 PMID:27993330 PMID:28060055 PMID:28135145 PMID:28146043 PMID:28410231 PMID:28454591 PMID:28492532 PMID:28521409 PMID:28528518 PMID:28592523 PMID:28599463 PMID:28640387 PMID:28717660 PMID:28726808 PMID:28765326 PMID:28767289 PMID:28830827 PMID:28866070 PMID:28873162 PMID:28944238 PMID:28979722 PMID:29091774 PMID:29263814 PMID:29360161 PMID:29464027 PMID:29506128 PMID:29533785 PMID:29541281 PMID:29543703 PMID:29641532 PMID:29642553 PMID:29661971 PMID:29684080 PMID:29758216 PMID:29774366 PMID:29922827 PMID:29945567 PMID:29983899 PMID:30038052 PMID:30039340 PMID:30093976 PMID:30113427 PMID:30207590 PMID:30274933 PMID:30291219 PMID:30339520 PMID:30548481 PMID:30967399 PMID:31169336 PMID:31432501 PMID:31517177 PMID:31567591 PMID:31921681 PMID:31980996 PMID:32113160 PMID:32191290 PMID:32455486 PMID:32482799 PMID:32957588 PMID:32980694 PMID:33050356 PMID:33134534 PMID:33322357 PMID:33397043 PMID:33823155 PMID:33939675 PMID:33945383 PMID:34028844 PMID:34069252 PMID:34069952 PMID:34099663 PMID:34369425 PMID:34426522 PMID:34646395 PMID:35001868 PMID:35171259 PMID:35264596 PMID:35566480 PMID:36243179 PMID:36315513 PMID:36969747 PMID:37422710 PMID:109563903 More...
NCBI chr 9:21,803,862...21,831,322
G
BAP1
BRCA1 associated deubiquitinase 1
ISO
ClinVar Annotator: match by term: Intraocular melanoma
ClinVar
PMID:25741868
NCBI chr 3:52,344,067...52,352,187
Ensembl chr 3:53,573,785...53,581,943
G
TMEM127
transmembrane protein 127
ISO
ClinVar Annotator: match by term: Intraocular melanoma
ClinVar
PMID:25741868 PMID:28492532
NCBI chr2A:103,049,655...103,065,116
Ensembl chr2A:97,174,322...97,189,171
G
AFF4
ALF transcription elongation factor 4
disease_progression
ISO
RGD
PMID:33417923
RGD:155631266
NCBI chr 5:128,292,700...128,374,511
Ensembl chr 5:134,457,398...134,532,625
G
AGT
angiotensinogen
ISO
protein:increased expression:serum
RGD
PMID:19394758
RGD:8548874
NCBI chr 1:206,252,141...206,263,830
Ensembl chr 1:211,279,015...211,291,044
G
ARHGAP44
Rho GTPase activating protein 44
severity
ISO
DNA:SNP:intron: (rs72635537) (human)
RGD
PMID:28510328
RGD:401901274
NCBI chr17:38,657,824...38,859,591
Ensembl chr17:43,357,438...43,453,457
G
BAP1
BRCA1 associated deubiquitinase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25231345 PMID:26719535
NCBI chr 3:52,344,067...52,352,187
Ensembl chr 3:53,573,785...53,581,943
G
BIRC2
baculoviral IAP repeat containing 2
exacerbates
ISO
mRNA:increased expression:zone of skin (human)
RGD
PMID:31964418
RGD:153344516
NCBI chr11:97,298,736...97,324,966
Ensembl chr11:100,793,036...100,822,421
G
BRAF
B-Raf proto-oncogene, serine/threonine kinase
ISO
ClinVar Annotator: match by term: Cutaneous melanoma | ClinVar Annotator: match by term: DYSPLASTIC NEVUS SYNDROME, HEREDITARY | ClinVar Annotator: match by term: Malignant melanoma of skin
ClinVar
PMID:2493360 PMID:2500657 PMID:12068308 PMID:12198537 PMID:12447372 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:20186801 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: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:28783719 PMID:28832562 PMID:28854169 PMID:28891408 PMID:29540830 PMID:29595366 PMID:29907801 PMID:29925953 PMID:30986545 PMID:31277584 PMID:31336229 PMID:31779674 PMID:31891627 PMID:34411415 PMID:34476331 More...
NCBI chr 7:132,651,908...132,855,422
Ensembl chr 7:145,138,510...145,327,115
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BRCA2
BRCA2 DNA repair associated
disease_progression
ISO
DNA:SNP: :rs206118, rs3752447, rs10492396 (human)
RGD
PMID:25243787
RGD:11344896
NCBI chr13:13,574,422...13,658,967
Ensembl chr13:32,010,066...32,091,332
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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 chr17:22,528,154...22,530,091
Ensembl chr17:22,820,890...22,823,384
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CD40
CD40 molecule
disease_progression
ISO
RGD
PMID:8952530
RGD:8547772
NCBI chr20:42,455,711...42,467,139
Ensembl chr20:43,541,619...43,552,994
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CDK4
cyclin dependent kinase 4
ISO
ClinVar Annotator: match by term: Cutaneous melanoma | 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 chr12:31,174,446...31,178,597
Ensembl chr12:31,434,594...31,438,876
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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 chr 9:21,803,862...21,831,322
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CHAF1B
chromatin assembly factor 1 subunit B
severity
ISO
protein:increased expression:skin:
RGD
PMID:20178651
RGD:9587476
NCBI chr21:22,755,721...22,786,958
Ensembl chr21:36,113,971...36,143,575
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CNR1
cannabinoid receptor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28131817
NCBI chr 6:86,017,141...86,044,889
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CREB1
cAMP responsive element binding protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29179997
NCBI chr2B:94,762,796...94,836,304
Ensembl chr2B:212,891,261...212,958,130
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CTCF
CCCTC-binding factor
ISO
DNA:mutations:multiple (human)
RGD
PMID:27974201
RGD:151356739
NCBI chr16:47,906,503...47,983,271
Ensembl chr16:67,302,952...67,372,041
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CTNNB1
catenin beta 1
ISO
ClinVar Annotator: match by term: Cutaneous melanoma
ClinVar
PMID:10192393 PMID:25741868 PMID:26619011
NCBI chr 3:41,104,940...41,145,934
Ensembl chr 3:41,373,726...41,414,030
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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 chr 6:30,625,871...30,645,066
Ensembl chr 6:31,496,047...31,513,455
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DNMT3B
DNA methyltransferase 3 beta
disease_progression
ISO
RGD
PMID:21081840
RGD:9589074
NCBI chr20:29,049,993...29,096,957
Ensembl chr20:30,186,069...30,215,487
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EML1
EMAP like 1
disease_progression
ISO
DNA:SNP: :rs10151787 (A>G)
RGD
PMID:34249459
RGD:597538489
NCBI chr14:80,362,837...80,566,996
Ensembl chr14:99,793,812...99,885,359
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FANCA
FA complementation group A
disease_progression
ISO
DNA:SNP: :rs62068372 (human)
RGD
PMID:25243787
RGD:11344896
NCBI chr16:70,495,310...70,579,275
Ensembl chr16:90,163,950...90,245,147
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FANCD2
FA complementation group D2
ISO
mRNA,protein:increased expression:skin,nucleus:
RGD
PMID:21697891
RGD:11046262
NCBI chr 3:9,932,292...10,037,332
Ensembl chr 3:10,312,476...10,389,190
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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 4:144,660,676...144,874,404
Ensembl chr 4:156,312,274...156,402,351
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GPX1
glutathione peroxidase 1
ISO
mRNA:increased expression:skin of body (human)
RGD
PMID:29535818
RGD:152023655
NCBI chr 3:49,280,038...49,281,455
Ensembl chr 3:50,360,947...50,361,826
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GRM1
glutamate metabotropic receptor 1
ISO
OMIM:608035 | OMIM:612263
MouseDO
NCBI chr 6:143,819,364...144,231,304
Ensembl chr 6:148,537,036...148,947,047
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GSTM1
glutathione S-transferase mu 1
susceptibility
ISO
DNA:deletion:: (human)
RGD
PMID:11352862
RGD:12792221
Ensembl chr 1:127,979,238...128,010,411
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HIF1A
hypoxia inducible factor 1 subunit alpha
ISO
protein:increased expression:epidermis (human)
RGD
PMID:19558170
RGD:8695922
NCBI chr14:42,295,691...42,348,478
Ensembl chr14:60,552,374...60,604,885
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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 chr11:537,488...540,810
Ensembl chr11:568,305...571,078
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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 chr19:9,821,402...9,837,021
Ensembl chr19:10,484,414...10,500,605
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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 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 chr2B:95,475,320...95,494,286
Ensembl chr2B:213,599,036...213,617,175
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JMJD6
jumonji domain containing 6, arginine demethylase and lysine hydroxylase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30619488
NCBI chr17:70,789,922...70,803,791
Ensembl chr17:76,356,142...76,370,117
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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 chr11:514,227...559,838
Ensembl chr11:575,495...588,750
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MC1R
melanocortin 1 receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr16:70,676,447...70,697,636
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MITF
melanocyte inducing transcription factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22012259 PMID:22080950
NCBI chr 3:69,674,064...69,902,078
Ensembl chr 3:71,037,665...71,265,445
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MMP1
matrix metallopeptidase 1
disease_progression
ISO
DNA:SNPs, haplotype:promoter:multiple DNA:polymorphisms, haplotypes:promoter:multiple
RGD
PMID:20655738 PMID:22198560
RGD:8549726 RGD:8549727
NCBI chr11:97,730,545...97,739,190
Ensembl chr11:101,221,393...101,230,104
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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 chr16:35,711,866...35,738,881
Ensembl chr16:54,812,694...54,844,279
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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 chr20:42,346,305...42,354,018
Ensembl chr20:43,432,389...43,440,129
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NAIP
NLR family apoptosis inhibitory protein
exacerbates
ISO
mRNA:increased expression:zone of skin (human)
RGD
PMID:31964418
RGD:153344516
NCBI chr 5:44,345,623...44,401,358
Ensembl chr 5:45,920,125...45,973,937
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OCA2
OCA2 melanosomal transmembrane protein
susceptibility
ISO
DNA:snp:cds:p.R419Q (rs1800407) (human) DNA:missense mutation:cds:p.H615R (rs1800414) (human) DNA:snps:exon, intron:multiple (human)
RGD
PMID:15889046 PMID:19710684 PMID:24617981
RGD:9491818 RGD:9491829 RGD:9491831
NCBI chr15:1,811,728...2,192,018
Ensembl chr15:25,181,386...25,523,774
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PDCD4
programmed cell death 4
disease_progression
ISO
mRNA:decreased expression:skin (human)
RGD
PMID:26150475
RGD:11342032
NCBI chr10:107,465,084...107,493,285
Ensembl chr10:110,914,222...110,942,394
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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 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:25681199 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:34568242 PMID:34606700 PMID:37667289 PMID:37712948 More...
NCBI chr 3:176,182,765...176,272,024
Ensembl chr 3:184,355,785...184,441,977
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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 chr 7:116,807,913...116,926,998
Ensembl chr 7:129,487,571...129,605,558
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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 PMID:11504908 PMID:11875759 PMID:11948419 PMID:16773562 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:24033266 PMID:24055113 PMID:24292679 PMID:24778394 PMID:25157968 PMID:25527629 PMID:25741868 PMID:25980754 PMID:26418532 PMID:26619011 PMID:26798346 PMID:27477328 PMID:27535533 PMID:28475857 PMID:28492532 PMID:28677221 PMID:29359449 PMID:29706350 PMID:29785012 PMID:30311380 PMID:30528446 PMID:31159747 PMID:31636093 PMID:32350270 PMID:32442409 PMID:32832836 PMID:32885271 PMID:33077954 PMID:34793697 PMID:38645101 More...
NCBI chr10:84,587,841...84,689,043
Ensembl chr10:88,093,539...88,194,605
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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 5:76,357,549...76,398,571
Ensembl chr 5:81,743,254...81,784,565
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STAT3
signal transducer and activator of transcription 3
disease_progression
ISO
RGD
PMID:21876460
RGD:8694297
NCBI chr17:14,928,689...15,003,644
Ensembl chr17:15,152,358...15,227,067
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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:26580448 PMID:26898890 PMID:26928227 PMID:26976419 PMID:27443514 PMID:27621404 PMID:28135145 PMID:28202063 PMID:28492532 PMID:28821472 PMID:28873162 PMID:29368341 PMID:29458332 PMID:33471991 More...
Ensembl chr19:1,188,537...1,210,677
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TERT
telomerase reverse transcriptase
ISO
CTD Direct Evidence: marker/mechanism
CTD
Ensembl chr 5:1,300,960...1,338,872
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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:7718482 PMID:7732013 PMID:7881428 PMID:7885831 PMID:7887414 PMID:8023157 PMID:8062826 PMID:8080050 PMID:8099841 PMID:8118819 PMID:8164043 PMID:8308926 PMID:8336941 PMID:8344492 PMID:8364550 PMID:8401536 PMID:8402598 PMID:8423216 PMID:8425176 PMID:8464896 PMID:8479749 PMID:8527048 PMID:8631304 PMID:8633021 PMID:8649776 PMID:8688334 PMID:8718514 PMID:8825920 PMID:8829627 PMID:8829653 PMID:8869100 PMID:9049183 PMID:9049184 PMID:9150393 PMID:9242456 PMID:9290701 PMID:9364015 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:10229196 PMID:10411893 PMID:10432928 PMID:10519380 PMID:10567903 PMID:10589545 PMID:10616528 PMID:10713666 PMID:10732753 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:11867759 PMID:11896595 PMID:11920788 PMID:11920959 PMID:12007217 PMID:12034820 PMID:12124823 PMID:12509279 PMID:12672316 PMID:12702523 PMID:12726864 PMID:12782597 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:19367569 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:20586629 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:25765855 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:26580448 PMID:26585234 PMID:26619011 PMID:26655088 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:27557517 PMID:27616075 PMID:27680515 PMID:27683180 PMID:27714481 PMID:27724982 PMID:27730344 PMID:27813088 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:28772286 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:29666004 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:32371905 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:33840814 PMID:34026625 PMID:34240179 PMID:34266904 PMID:34675114 PMID:34793666 PMID:34805717 PMID:35033608 PMID:35127508 PMID:35820297 PMID:35938033 PMID:36988593 More...
NCBI chr17:7,699,449...7,717,812
Ensembl chr17:7,684,922...7,706,120
G
TP73
tumor protein p73
ISO
mRNA:increased expression:skin of body (human)
RGD
PMID:30420492
RGD:151347580
NCBI chr 1:2,323,399...2,405,295
Ensembl chr 1:3,476,064...3,529,206
G
TYR
tyrosinase
susceptibility
ISO
DNA:missense mutation:cds:p.R402Q(human)
RGD
PMID:21906913
RGD:8694390
NCBI chr11:84,188,557...84,306,686
Ensembl chr11:87,769,606...87,888,138
G
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 chr12:40,828,413...40,891,700
Ensembl chr12:41,702,742...41,766,192
G
XRCC3
X-ray repair cross complementing 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr14:84,323,644...84,341,763
Ensembl chr14:104,131,903...104,149,037
G
TYR
tyrosinase
susceptibility
ISO
ClinVar Annotator: match by term: SKIN/HAIR/EYE PIGMENTATION 3, FRECKLING | ClinVar Annotator: match by term: SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN | ClinVar Annotator: match by term: Skin/hair/eye pigmentation, variation in, 3
ClinVar OMIM
PMID:666627 PMID:1429711 PMID:1642278 PMID:1676041 PMID:1711223 PMID:1820207 PMID:1832718 PMID:1899321 PMID:1900307 PMID:1900309 PMID:1903591 PMID:1905879 PMID:1943686 PMID:1970634 PMID:2113511 PMID:2120217 PMID:2342539 PMID:2511845 PMID:2567165 PMID:5516239 PMID:7704033 PMID:7849740 PMID:7902671 PMID:7955413 PMID:8026428 PMID:8128955 PMID:8430701 PMID:8434585 PMID:9158138 PMID:9163730 PMID:9242509 PMID:9259202 PMID:9536098 PMID:10571953 PMID:10766867 PMID:10823941 PMID:10987646 PMID:11284711 PMID:11295837 PMID:11829136 PMID:11858948 PMID:12753405 PMID:13680365 PMID:15146472 PMID:15381243 PMID:15635296 PMID:15937636 PMID:16056219 PMID:16098056 PMID:16170149 PMID:16199547 PMID:16417222 PMID:16570240 PMID:16767664 PMID:16907708 PMID:17576681 PMID:17952075 PMID:17999355 PMID:18326704 PMID:18463683 PMID:18488027 PMID:18488028 PMID:18701257 PMID:18821858 PMID:18925668 PMID:19060277 PMID:19208379 PMID:19320745 PMID:19533789 PMID:19626598 PMID:19865097 PMID:20301345 PMID:20806075 PMID:20861488 PMID:20861851 PMID:21541274 PMID:21906913 PMID:21985232 PMID:22042571 PMID:22097729 PMID:22294196 PMID:22734612 PMID:22981120 PMID:23010199 PMID:23085273 PMID:23242301 PMID:23324268 PMID:23504663 PMID:23882993 PMID:24033266 PMID:24123366 PMID:24721949 PMID:24934919 PMID:25216246 PMID:25326635 PMID:25333069 PMID:25703744 PMID:25741868 PMID:25919014 PMID:26165494 PMID:26167114 PMID:26818737 PMID:27537549 PMID:27666373 PMID:27734839 PMID:27775880 PMID:27829221 PMID:27887888 PMID:27959697 PMID:28041643 PMID:28112372 PMID:28266639 PMID:28378818 PMID:28451379 PMID:28492532 PMID:28629449 PMID:28667292 PMID:28771251 PMID:28976636 PMID:29345414 PMID:30311386 PMID:30341532 PMID:30472657 PMID:30791930 PMID:30868578 PMID:30996339 PMID:31077556 PMID:31199599 PMID:31719542 PMID:32115698 PMID:32411182 PMID:32552135 PMID:32581362 PMID:32619251 PMID:32849781 PMID:33124154 PMID:33177702 PMID:33223529 PMID:33800529 PMID:34008892 PMID:34838614 PMID:35803923 PMID:35923705 PMID:36413997 More...
NCBI chr11:84,188,557...84,306,686
Ensembl chr11:87,769,606...87,888,138
G
BAP1
BRCA1 associated deubiquitinase 1
disease_progression susceptibility
ISO
mRNA,protein:decreased expression: : ClinVar Annotator: match by term: Melanoma, uveal, susceptibility to, 2 | ClinVar Annotator: match by term: Uveal melanoma
RGD OMIM ClinVar
PMID:16341802 PMID:19197335 PMID:21874000 PMID:23032617 PMID:23684012 PMID:24243779 PMID:24728327 PMID:25147369 PMID:25231345 PMID:25687217 PMID:25741868 PMID:25974357 PMID:26467025 PMID:26556299 PMID:26683624 PMID:26719535 PMID:28062663 PMID:28492532 PMID:28551647 PMID:28793149 PMID:29625052 PMID:30477459 PMID:30883995 PMID:31034483 PMID:31186267 PMID:32002398 PMID:33240524 More...
RGD:9586037
NCBI chr 3:52,344,067...52,352,187
Ensembl chr 3:53,573,785...53,581,943
G
BIRC7
baculoviral IAP repeat containing 7
exacerbates
ISO
mRNA:increased expression:uvea (human)
RGD
PMID:31964418
RGD:153344516
NCBI chr20:59,618,530...59,623,612
Ensembl chr20:61,157,302...61,161,932
G
BRCA2
BRCA2 DNA repair associated
susceptibility
ISO
DNA:mutations: :
RGD
PMID:22187320
RGD:9068467
NCBI chr13:13,574,422...13,658,967
Ensembl chr13:32,010,066...32,091,332
G
CRP
C-reactive protein
disease_progression
ISO
RGD
PMID:23057648
RGD:9491834
NCBI chr 1:135,062,102...135,064,402
G
GRM1
glutamate metabotropic receptor 1
ISO
OMIM:155720 | OMIM:606660 | OMIM:606661
MouseDO
NCBI chr 6:143,819,364...144,231,304
Ensembl chr 6:148,537,036...148,947,047
G
IGF1
insulin like growth factor 1
disease_progression
ISO
RGD
PMID:23197685
RGD:8548834
NCBI chr12:99,986,887...100,066,773
Ensembl chr12:103,385,911...103,462,177
G
KDM5B
lysine demethylase 5B
severity
ISO
protein:increased expression:uvea (human)
RGD
PMID:22669717
RGD:9587775
NCBI chr 1:178,323,073...178,406,608
Ensembl chr 1:182,622,425...182,702,994
G
KDR
kinase insert domain receptor
disease_progression
ISO
RGD
PMID:21984395
RGD:8549718
NCBI chr 4:68,813,894...68,861,018
Ensembl chr 4:75,377,375...75,427,109
G
LOC100982859
class I histocompatibility antigen, Gogo-B*0101 alpha chain
severity
ISO
protein:increased expression:tumor of uvea (human)
RGD
PMID:9286277
RGD:7364941
NCBI chr 6:31,106,562...31,109,933
Ensembl chr 6:31,997,381...32,000,067
G
MBD4
methyl-CpG binding domain 4, DNA glycosylase
susceptibility
ISO
ClinVar Annotator: match by term: MBD4-related condition | ClinVar Annotator: match by term: Melanoma, uveal, susceptibility to, 1
ClinVar OMIM
PMID:25741868 PMID:28492532 PMID:29760383 PMID:30049810 PMID:30714079 PMID:32239153 PMID:35460607 More...
NCBI chr 3:126,489,125...126,498,034
Ensembl chr 3:133,839,643...133,851,450
G
MCAM
melanoma cell adhesion molecule
disease_progression
ISO
RGD
PMID:19958117
RGD:7364775
NCBI chr11:114,149,583...114,158,234
Ensembl chr11:118,078,179...118,083,893
G
PLCB4
phospholipase C beta 4
ISO
ClinVar Annotator: match by term: Uveal melanoma
ClinVar
PMID:31186267
NCBI chr20:9,042,127...9,454,207
Ensembl chr20:9,192,061...9,456,443
G
SERPINE1
serpin family E member 1
treatment
ISO
human gene in mouse model
RGD
PMID:9326241
RGD:8547806
NCBI chr 7:93,267,517...93,279,728
Ensembl chr 7:106,510,130...106,518,450
G
SERPINF1
serpin family F member 1
severity
ISO
RGD
PMID:23793989
RGD:8554893
NCBI chr17:1,745,597...1,761,399
Ensembl chr17:1,638,556...1,653,568
G
TMEM127
transmembrane protein 127
ISO
ClinVar Annotator: match by term: Uveal melanoma
ClinVar
PMID:25741868 PMID:28492532
NCBI chr2A:103,049,655...103,065,116
Ensembl chr2A:97,174,322...97,189,171
G
VEGFA
vascular endothelial growth factor A
ISO
protein:increased expression:iris, ciliary body, vitreous body;
RGD
PMID:11914216
RGD:7483591
NCBI chr 6:43,361,053...43,377,366
Ensembl chr 6:44,650,365...44,666,353
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all