RGD DISEASE ONTOLOGY - ANNOTATIONS
RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term: skin cancer
Accession: DOID:4159
browse the term
Definition: An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells. (DO)
Synonyms: exact_synonym: CA - skin cancer; cancer of skin; cancer of the skin; malignant neoplasm of skin; melanoma and non-melanoma skin cancer; skin cancers
xref: GARD:10421 ; NCI:C2920
For additional species annotation, visit the
Alliance of Genome Resources .
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Anxa7
annexin A7
ISO
protein:decreased expression:skin
RGD
PMID:17708571
RGD:2292654
NCBI chr15:3,821,798...3,849,659
Ensembl chr15:3,821,845...3,849,385
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Chuk
component of inhibitor of nuclear factor kappa B kinase complex
ISO
RGD
PMID:21755017
RGD:13504775
NCBI chr 1:242,959,539...242,995,066
Ensembl chr 1:242,959,760...242,995,065
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Crkl
CRK like proto-oncogene, adaptor protein
ISO
RGD
PMID:16391854
RGD:7488899
NCBI chr11:83,528,788...83,563,214
Ensembl chr11:83,526,530...83,563,238
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Pml
PML nuclear body scaffold
severity
ISO
human gene in a mouse model
RGD
PMID:19058256
RGD:41404688
NCBI chr 8:58,627,347...58,661,927
Ensembl chr 8:58,628,837...58,658,971
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Snai1
snail family transcriptional repressor 1
ISS
MouseDO
NCBI chr 3:156,248,479...156,252,969
Ensembl chr 3:156,248,485...156,252,969
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Srsf6
serine and arginine rich splicing factor 6
ISO
protein:increased expression:skin (human)
RGD
PMID:24440982
RGD:11039481
NCBI chr 3:151,589,546...151,594,869
Ensembl chr 3:151,589,535...151,594,860
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Asip
agouti signaling protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18488027
NCBI chr 3:143,473,584...143,561,170
Ensembl chr 3:143,555,696...143,561,171
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Bap1
Brca1 associated protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:26719535 PMID:25080371
RGD:9586038
NCBI chr16:6,446,709...6,455,535
Ensembl chr16:6,446,709...6,455,535
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Ccnh
cyclin H
ISO
ClinVar Annotator: match by term: Basal cell carcinoma, somatic | ClinVar Annotator: match by term: Basal cell carcinoma, susceptibility to, 1
ClinVar
PMID:8275088 PMID:24038909 PMID:25741868 PMID:28492532
NCBI chr 2:15,834,833...15,855,643
Ensembl chr 2:15,834,833...15,855,819
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Clptm1l
CLPTM1-like
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19151717
NCBI chr 1:29,667,545...29,683,530
Ensembl chr 1:29,667,545...29,683,530
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Crnkl1
crooked neck pre-mRNA splicing factor 1
ISO
DNA:missense mutation:cds:p.S128F (human)
RGD
PMID:23774526
RGD:9850250
NCBI chr 3:133,338,593...133,354,329
Ensembl chr 3:133,337,039...133,354,302
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Ctcf
CCCTC-binding factor
ISO
DNA:mutations:multiple (human)
RGD
PMID:27974201
RGD:151356739
NCBI chr19:33,521,726...33,571,124
Ensembl chr19:33,529,319...33,571,123
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Ctla4
cytotoxic T-lymphocyte-associated protein 4
susceptibility
ISO
DNA:SNP: :rs3087243(human)
RGD
PMID:19622768
RGD:7411686
NCBI chr 9:62,318,874...62,325,978
Ensembl chr 9:62,319,312...62,324,963
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Erbb2
erb-b2 receptor tyrosine kinase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26950094
NCBI chr10:83,411,197...83,435,078
Ensembl chr10:83,411,313...83,435,078
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Fbxw7
F-box and WD repeat domain containing 7
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26950094
NCBI chr 2:170,150,552...170,310,698
Ensembl chr 2:170,149,694...170,309,941
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Gli2
GLI family zinc finger 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:10700170
NCBI chr13:29,946,809...30,163,901
Ensembl chr13:29,946,809...30,163,574
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Hhip
Hedgehog-interacting protein
treatment
ISO
mRNA:increased expression:skin:
RGD
PMID:15024045 PMID:15024045
RGD:11552592 , RGD:11552592
NCBI chr19:27,863,684...27,952,528
Ensembl chr19:27,863,213...27,952,528
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Il6
interleukin 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22108589
NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
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Krt17
keratin 17
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20871598
NCBI chr10:85,178,673...85,183,392
Ensembl chr10:85,178,675...85,183,392
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Krt5
keratin 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19578363 PMID:20871598
NCBI chr 7:132,846,355...132,851,986
Ensembl chr 7:132,846,136...132,851,850
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Lats1
large tumor suppressor kinase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26950094
NCBI chr 1:2,160,411...2,193,640
Ensembl chr 1:2,160,411...2,193,640
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Mc1r
melanocortin 1 receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18539553
NCBI chr19:51,452,448...51,455,375
Ensembl chr19:51,453,239...51,454,192
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Mycn
MYCN proto-oncogene, bHLH transcription factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26950094
NCBI chr 6:35,717,764...35,723,590
Ensembl chr 6:35,717,764...35,723,590
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Oca2
OCA2 melanosomal transmembrane protein
susceptibility
ISO
DNA:snps:intron:IVS1+132A>G (rs7495174), IVS1+8550A>G (rs11855019), IVS1+15605G>A (rs7174027) (human) DNA:missense mutation:cds:p.R419Q (rs1800407) (human)
RGD
PMID:21270109 PMID:19384953
RGD:9491840 , RGD:9491841
NCBI chr 1:107,116,278...107,446,093
Ensembl chr 1:107,116,278...107,446,074
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Ogg1
8-oxoguanine DNA glycosylase
no_association
ISO
DNA:missense mutation: :p.S326C (rs1052133)(human)
RGD
PMID:22436579 PMID:15466987
RGD:8657137 , RGD:8657158
NCBI chr 4:146,474,701...146,481,959
Ensembl chr 4:146,474,750...146,484,766
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Palb2
partner and localizer of BRCA2
ISO
ClinVar Annotator: match by term: Basal cell carcinoma
ClinVar
PMID:17200668 PMID:17200671 PMID:17200672 PMID:24136930 PMID:25099575 PMID:25741868 PMID:27878467 PMID:28135048 PMID:28423363 PMID:28492532 PMID:28779002 More...
NCBI chr 1:176,665,076...176,689,053
Ensembl chr 1:176,665,076...176,688,990
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Pik3ca
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26950094
NCBI chr 2:115,175,275...115,249,034
Ensembl chr 2:115,174,984...115,249,032
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Ppp6c
protein phosphatase 6, catalytic subunit
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26950094
NCBI chr 3:22,929,816...22,962,123
Ensembl chr 3:22,931,577...22,962,113
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Ptch1
patched 1
susceptibility disease_progression
ISO
ClinVar Annotator: match by term: Basal cell carcinoma | ClinVar Annotator: match by term: Basal cell carcinoma, somatic | ClinVar Annotator: match by term: Basal cell carcinoma, susceptibility to, 1 mRNA:increased expression:skin of body CTD Direct Evidence: marker/mechanism
ClinVar OMIM CTD RGD
PMID:8782823 PMID:9581815 PMID:9620294 PMID:16301862 PMID:16419085 PMID:18854826 PMID:24728327 PMID:25741868 PMID:26467025 PMID:26950094 PMID:28492532 PMID:9422511 PMID:10504535 More...
RGD:704355 , RGD:12801453
NCBI chr17:1,542,705...1,607,730
Ensembl chr17:1,542,877...1,607,333
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Ptch2
patched 2
susceptibility
ISO
ClinVar Annotator: match by term: Basal cell carcinoma, somatic | ClinVar Annotator: match by term: Basal cell carcinoma, susceptibility to, 1 CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:9931336 PMID:25741868 PMID:28492532
NCBI chr 5:130,571,956...130,592,506
Ensembl chr 5:130,572,312...130,592,405
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Ptpn14
protein tyrosine phosphatase, non-receptor type 14
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26950094
NCBI chr13:101,268,258...101,420,508
Ensembl chr13:101,268,416...101,414,088
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Rasa1
RAS p21 protein activator 1
susceptibility
ISO
DNA:missense mutations:cds: (human) ClinVar Annotator: match by term: Basal cell carcinoma, somatic | ClinVar Annotator: match by term: Basal cell carcinoma, susceptibility to, 1 CTD Direct Evidence: marker/mechanism
ClinVar CTD OMIM RGD
PMID:8275088 PMID:24038909 PMID:25741868 PMID:28492532 PMID:8275088
RGD:737716
NCBI chr 2:15,857,704...15,940,757
Ensembl chr 2:15,857,980...15,940,854
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Rb1
RB transcriptional corepressor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26950094
NCBI chr15:48,371,295...48,502,473
Ensembl chr15:48,371,296...48,502,302
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Rpe65
retinoid isomerohydrolase RPE65
ISO
mRNA:increased expression:skin (human)
RGD
PMID:16181461
RGD:9495923
NCBI chr 2:248,766,497...248,798,403
Ensembl chr 2:248,766,612...248,798,403
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Shh
sonic hedgehog signaling molecule
ISO
DNA, protein:hypermethylation, decreased expression:skin of body
RGD
PMID:23284750
RGD:12801452
NCBI chr 4:6,954,017...6,963,170
Ensembl chr 4:6,954,017...6,963,170
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Slc45a2
solute carrier family 45, member 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19578363
NCBI chr 2:59,963,599...59,996,408
Ensembl chr 2:59,963,706...59,996,317
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Smo
smoothened, frizzled class receptor
susceptibility disease_progression
ISO
DNA:missense mutations:cds:p.W535L, p.R562Q (human) ClinVar Annotator: match by term: Basal cell carcinoma | ClinVar Annotator: match by term: Basal cell carcinoma, somatic mRNA:increased expression:skin of body CTD Direct Evidence: marker/mechanism
ClinVar OMIM CTD RGD
PMID:9422511 PMID:9581815 PMID:19726788 PMID:22679179 PMID:25759020 PMID:26950094 PMID:9422511 PMID:10504535 More...
RGD:704355 , RGD:12801453
NCBI chr 4:58,344,101...58,372,828
Ensembl chr 4:58,343,529...58,373,829
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Stk19
serine/threonine kinase 19
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26950094
NCBI chr20:3,995,590...4,005,117
Ensembl chr20:3,995,587...4,005,116
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Sufu
SUFU negative regulator of hedgehog signaling
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26950094
NCBI chr 1:245,257,725...245,355,576
Ensembl chr 1:245,257,768...245,355,577
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Tert
telomerase reverse transcriptase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19151717
NCBI chr 1:29,637,213...29,659,509
Ensembl chr 1:29,637,506...29,659,561
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Tp53
tumor protein p53
ISO
DNA:mutations:cds: ClinVar Annotator: match by term: Basal cell carcinoma, susceptibility to, 7 CTD Direct Evidence: marker/mechanism
ClinVar CTD OMIM RGD
PMID:1565143 PMID:1565144 PMID:1683921 PMID:7732013 PMID:7887414 PMID:8062826 PMID:8164043 PMID:8423216 PMID:8825920 PMID:9047394 PMID:9242456 PMID:9546439 PMID:9569050 PMID:10411893 PMID:10797439 PMID:10864200 PMID:11101847 PMID:11139324 PMID:11479205 PMID:11511317 PMID:11782540 PMID:12007217 PMID:12619118 PMID:12672316 PMID:12826609 PMID:15004724 PMID:15381368 PMID:15390294 PMID:15607980 PMID:15607981 PMID:15722483 PMID:15951970 PMID:15977174 PMID:16401470 PMID:16489069 PMID:16682957 PMID:16818505 PMID:17540308 PMID:17606709 PMID:17636407 PMID:18391940 PMID:18511570 PMID:19127115 PMID:19556618 PMID:19881536 PMID:20113312 PMID:20128691 PMID:20407015 PMID:20516128 PMID:20689556 PMID:20693561 PMID:21187651 PMID:21305319 PMID:21343334 PMID:21484931 PMID:21519010 PMID:21552135 PMID:21601526 PMID:21761402 PMID:21946351 PMID:22006311 PMID:22110706 PMID:22114072 PMID:22186996 PMID:22233476 PMID:22698404 PMID:22706378 PMID:22800615 PMID:22811390 PMID:22899716 PMID:22915647 PMID:23161690 PMID:23246812 PMID:23263379 PMID:23515929 PMID:23538418 PMID:23571737 PMID:23742673 PMID:23792586 PMID:24033266 PMID:24381225 PMID:24487413 PMID:24501221 PMID:24573247 PMID:24634504 PMID:24641375 PMID:24651012 PMID:24677579 PMID:24810334 PMID:25157968 PMID:25422255 PMID:25584008 PMID:25741868 PMID:25787918 PMID:25907361 PMID:25952993 PMID:26230955 PMID:26467025 PMID:26585234 PMID:26619011 PMID:26681312 PMID:26822237 PMID:26823150 PMID:26845104 PMID:26950094 PMID:27147571 PMID:27153395 PMID:27276561 PMID:27374712 PMID:27463065 PMID:27516001 PMID:27680515 PMID:27683180 PMID:27895058 PMID:27959731 PMID:28349240 PMID:28369373 PMID:28453743 PMID:28492532 PMID:28873162 PMID:29478780 PMID:29489754 PMID:29979965 PMID:30076369 PMID:30224644 PMID:30327374 PMID:30816478 PMID:31775759 PMID:32000721 PMID:9539248 PMID:10677095 More...
RGD:8547844 , RGD:8547848
NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
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Tyr
tyrosinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18488027
NCBI chr 1:141,115,036...141,210,207
Ensembl chr 1:141,115,036...141,210,207
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Vdr
vitamin D receptor
ISO
DNA:SNPs, haplotype: :rs731236, rs7975232 (human) mRNA:increased expression:skin
RGD
PMID:22213323 PMID:15077124
RGD:8158063 , RGD:8158076
NCBI chr 7:128,987,981...129,037,677
Ensembl chr 7:128,987,981...129,037,677
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Xpa
XPA, DNA damage recognition and repair factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17687452
NCBI chr 5:60,431,673...60,476,438
Ensembl chr 5:60,431,673...60,475,726
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Xrcc3
X-ray repair cross complementing 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16501254
NCBI chr 6:130,863,405...130,873,765
Ensembl chr 6:130,863,959...130,872,444
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Xrcc5
X-ray repair cross complementing 5
ISO
protein:increased expression:epidermal cell, basal cell of epidermis (human)
RGD
PMID:16497868
RGD:8698657
NCBI chr 9:73,955,220...74,044,020
Ensembl chr 9:73,955,216...74,044,018
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Xrcc6
X-ray repair cross complementing 6
ISO
protein:increased expression:epidermal cell, basal cell of epidermis (human)
RGD
PMID:16497868
RGD:8698657
NCBI chr 7:113,542,992...113,563,762
Ensembl chr 7:113,543,057...113,563,762
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Ptch1
patched 1
ISO
DNA:missense mutations, nonsense mutations
RGD
PMID:25395299
RGD:150523793
NCBI chr17:1,542,705...1,607,730
Ensembl chr17:1,542,877...1,607,333
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Braf
B-Raf proto-oncogene, serine/threonine kinase
ISO
OMIM
NCBI chr 4:68,375,484...68,510,652
Ensembl chr 4:68,384,649...68,510,463
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Mc1r
melanocortin 1 receptor
ISO
ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 1
ClinVar
PMID:15998953 PMID:16809487 PMID:16982779 PMID:17279550 PMID:17316231 PMID:18067130 PMID:18803811 PMID:19585506 PMID:20876876 PMID:28492532 More...
NCBI chr19:51,452,448...51,455,375
Ensembl chr19:51,453,239...51,454,192
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Pot1
protection of telomeres 1
ISO
ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 1
ClinVar
PMID:24686846 PMID:25741868 PMID:28492532 PMID:30586141
NCBI chr 4:54,205,330...54,263,137
Ensembl chr 4:54,205,332...54,263,042
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Stk11
serine/threonine kinase 11
ISO
ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 1
OMIM ClinVar
PMID:10201537 PMID:10208439 PMID:23555315 PMID:23993471 PMID:24033266 PMID:24830819 PMID:25142776 PMID:25157968 PMID:25179843 PMID:25186627 PMID:25473901 PMID:25741868 PMID:25980754 PMID:26467025 PMID:26898890 PMID:26928227 PMID:26976419 PMID:27443514 PMID:27621404 PMID:28135145 PMID:28202063 PMID:28492532 PMID:28821472 PMID:28873162 PMID:29458332 More...
NCBI chr 7:9,574,553...9,591,315
Ensembl chr 7:9,575,269...9,591,315
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Tert
telomerase reverse transcriptase
ISO
ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 1
ClinVar
NCBI chr 1:29,637,213...29,659,509
Ensembl chr 1:29,637,506...29,659,561
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Pik3ca
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
severity
ISO
DNA:mutations:multiple:
RGD
PMID:22522847
RGD:14402410
NCBI chr 2:115,175,275...115,249,034
Ensembl chr 2:115,174,984...115,249,032
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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, 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:24162924 PMID:24256466 PMID:24321989 PMID:24728327 PMID:24755471 PMID:25157968 PMID:25186627 PMID:25318351 PMID:25416956 PMID:25741868 PMID:25980754 PMID:26252490 PMID:26467025 PMID:26534844 PMID:26580448 PMID:26619011 PMID:26800492 PMID:26976419 PMID:27640074 PMID:27978560 PMID:27997549 PMID:28060055 PMID:28135145 PMID:28166811 PMID:28380455 PMID:28492532 PMID:28726808 PMID:29641532 PMID:29774366 PMID:29917049 PMID:30093976 PMID:31159747 PMID:31570899 PMID:32645390 More...
NCBI chr 7:62,885,647...62,889,562
Ensembl chr 7:62,883,105...62,942,403
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Cdkn2a
cyclin-dependent kinase inhibitor 2A
ISO
ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Hereditary cutaneous melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 2 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Hereditary cutaneous melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 2 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5
OMIM ClinVar
PMID:865368 PMID:2319082 PMID:2677576 PMID:7566978 PMID:7569991 PMID:7614482 PMID:7624155 PMID:7632931 PMID:7640518 PMID:7647780 PMID:7666917 PMID:7670475 PMID:7718873 PMID:7777061 PMID:7780957 PMID:7796400 PMID:7881419 PMID:7882348 PMID:7923152 PMID:7970734 PMID:7972006 PMID:7987387 PMID:7987388 PMID:8012957 PMID:8023167 PMID:8060323 PMID:8153634 PMID: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:8910511 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: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: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:14679123 PMID:14722037 PMID:14735200 PMID:14745721 PMID:15009729 PMID:15075790 PMID:15122588 PMID:15140233 PMID:15140239 PMID:15146471 PMID:15150307 PMID:15173226 PMID:15235029 PMID:15298727 PMID:15304098 PMID:15705881 PMID:15761864 PMID:15856016 PMID:15860862 PMID:15937071 PMID:15945100 PMID:16032697 PMID:16169933 PMID:16199547 PMID:16214921 PMID:16234564 PMID:16307646 PMID:16354195 PMID:16374456 PMID:16397522 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:18025365 PMID:18178632 PMID:18335566 PMID:18337833 PMID:18363633 PMID:18519632 PMID:18573309 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: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:21614589 PMID:21619050 PMID:21801156 PMID:21893440 PMID:22292911 PMID:22368299 PMID:22440936 PMID:22447455 PMID:22561520 PMID:22636603 PMID:22703879 PMID:22804906 PMID:22841127 PMID:22911296 PMID:22995991 PMID:23190892 PMID:23371019 PMID:23613284 PMID:23757202 PMID:23897584 PMID:24033266 PMID:24185512 PMID:24336570 PMID:24436120 PMID:24569790 PMID:24659262 PMID:24660985 PMID:24728327 PMID:24733792 PMID:24737347 PMID:24935963 PMID:25064638 PMID:25078331 PMID:25149524 PMID:25157968 PMID:25186627 PMID:25227142 PMID:25294512 PMID:25318351 PMID:25356972 PMID:25370744 PMID:25372287 PMID:25479140 PMID:25503501 PMID:25741868 PMID:25780468 PMID:25787093 PMID:25803691 PMID:25813228 PMID:25846456 PMID:25877891 PMID:25980754 PMID:26104880 PMID:26206375 PMID:26225579 PMID:26295973 PMID:26381259 PMID:26467025 PMID:26474073 PMID:26483394 PMID:26498684 PMID:26542317 PMID:26581427 PMID:26601054 PMID:26619011 PMID:26650189 PMID:26650572 PMID:26658419 PMID:26670561 PMID:26681309 PMID:26775776 PMID:26800492 PMID:26845104 PMID:26876133 PMID:26892650 PMID:26907448 PMID:26976419 PMID:27045317 PMID:27077911 PMID:27083775 PMID:27181379 PMID:27267843 PMID:27287845 PMID:27443514 PMID:27473757 PMID:27519597 PMID:27568332 PMID:27621404 PMID:27626068 PMID:27701467 PMID:27756164 PMID:27804060 PMID:27960642 PMID:27978560 PMID:28060055 PMID:28120917 PMID:28135145 PMID:28146043 PMID:28166811 PMID:28188106 PMID:28410231 PMID:28440912 PMID:28454591 PMID:28492532 PMID:28521409 PMID:28592523 PMID:28599463 PMID:28640387 PMID:28717660 PMID:28726808 PMID:28765326 PMID:28767289 PMID:28830827 PMID:28830923 PMID:28866070 PMID:28873162 PMID:28944238 PMID:28979722 PMID:29036293 PMID:29091774 PMID:29263814 PMID:29360161 PMID:29464027 PMID:29506128 PMID:29533785 PMID:29541281 PMID:29543703 PMID:29641532 PMID:29661971 PMID:29758216 PMID:29774366 PMID:29922827 PMID:29983899 PMID:30038052 PMID:30086788 PMID:30093976 PMID:30207590 PMID:30274933 PMID:30291219 PMID:30303537 PMID:30339520 PMID:30709382 PMID:30742731 PMID:30967399 PMID:31001908 PMID:31382929 PMID:31775759 PMID:31921681 PMID:32113160 PMID:32191290 PMID:33322357 PMID:33823155 PMID:109563903 More...
NCBI chr 5:103,984,949...103,992,143
Ensembl chr 5:103,984,949...104,003,149
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Cdkn2b
cyclin-dependent kinase inhibitor 2B
ISO
ClinVar Annotator: match by term: Familial melanoma
ClinVar
PMID:9622062 PMID:28492532
NCBI chr 5:104,009,839...104,019,082
Ensembl chr 5:104,010,680...104,019,050
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Fanca
FA complementation group A
ISO
ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5
ClinVar
PMID:28492532
NCBI chr19:51,304,021...51,362,586
Ensembl chr19:51,304,021...51,362,527
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Klc1
kinesin light chain 1
ISO
ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 6
ClinVar
PMID:11059748
NCBI chr 6:130,823,416...130,866,729
Ensembl chr 6:130,823,419...130,867,031
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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: 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 5 | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5
OMIM ClinVar
PMID:7581459 PMID: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:24982914 PMID:25268584 PMID:25284244 PMID:25631192 PMID:25736238 PMID:25741868 PMID:25794181 PMID:26103569 PMID:26197705 PMID:26389967 PMID:26546047 PMID:26800492 PMID:27084066 PMID:27229376 PMID:27473757 PMID:28166811 PMID:28242083 PMID:28492532 PMID:28869973 PMID:29340229 PMID:31382929 More...
NCBI chr19:51,452,448...51,455,375
Ensembl chr19:51,453,239...51,454,192
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Mitf
melanocyte inducing transcription factor
susceptibility
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 8 ClinVar Annotator: match by term: MELANOMA AND RENAL CELL CARCINOMA, SUSCEPTIBILITY TO
CTD ClinVar OMIM
PMID:2440678 PMID:22012259 PMID:22080950 PMID:22158021 PMID:23167872 PMID:23774529 PMID:23787126 PMID:23802662 PMID:24033266 PMID:24290354 PMID:24352080 PMID:24406078 PMID:24660985 PMID:24767713 PMID:25407435 PMID:25741868 PMID:25803691 PMID:25975176 PMID:26650189 PMID:26775776 PMID:26800492 PMID:26999813 PMID: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:33240314 More...
NCBI chr 4:130,409,020...130,621,145
Ensembl chr 4:130,409,217...130,621,145
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Pot1
protection of telomeres 1
susceptibility
ISO
ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: MELANOMA AND RENAL CELL CARCINOMA, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 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, 3 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:9536098 PMID:16199547 PMID:17576681 PMID:19461895 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:27239034 PMID:27329137 PMID:27528712 PMID:27869160 PMID:28166811 PMID:28393830 PMID:28393832 PMID:28492532 PMID:28853721 PMID:29036293 PMID:29522175 PMID:29523635 PMID:29625052 PMID:29693246 PMID:30451293 PMID:30523342 PMID:30586141 PMID:30975761 PMID:31919090 PMID:32155570 PMID:32325837 PMID:32907878 PMID:33119245 PMID:33216348 More...
NCBI chr 4:54,205,330...54,263,137
Ensembl chr 4:54,205,332...54,263,042
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Spire2
spire-type actin nucleation factor 2
ISO
ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5
ClinVar
PMID:28492532
NCBI chr19:51,373,368...51,411,920
Ensembl chr19:51,373,228...51,411,920
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Tcf25
transcription factor 25
ISO
ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5
ClinVar
PMID:28492532
NCBI chr19:51,415,341...51,449,725
Ensembl chr19:51,415,543...51,449,723
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Tert
telomerase reverse transcriptase
ISO
ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 9
OMIM ClinVar
PMID:20871597 PMID:22037553 PMID:23066086 PMID:23348503 PMID:23535731 PMID:25741868 PMID:26194807 PMID:26433962 PMID:28492532 PMID:31395865 More...
NCBI chr 1:29,637,213...29,659,509
Ensembl chr 1:29,637,506...29,659,561
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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
NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
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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
PMID:9536098 PMID:17576681 PMID:20668451 PMID:21520333 PMID:23718828 PMID:24728327 PMID:24755471 PMID:25318351 PMID:25741868 PMID:25980754 PMID:26252490 PMID:26467025 PMID:27997549 PMID:28166811 PMID:28492532 PMID:29917049 PMID:30093976 PMID:31159747 More...
NCBI chr 7:62,889,552...62,892,428
Ensembl chr 7:62,889,552...62,898,388
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Tyr
tyrosinase
ISO
ClinVar Annotator: match by term: MELANOMA AND RENAL CELL CARCINOMA, SUSCEPTIBILITY TO
ClinVar
PMID:666627 PMID:1429711 PMID:1820207 PMID:7704033 PMID:9158138 PMID:10766867 PMID:17952075 PMID:18326704 PMID:18488027 PMID:18488028 PMID:18925668 PMID:19208379 PMID:19533789 PMID:21541274 PMID:23504663 PMID:25216246 PMID:25741868 PMID:28492532 More...
NCBI chr 1:141,115,036...141,210,207
Ensembl chr 1:141,115,036...141,210,207
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Xrcc3
X-ray repair cross complementing 3
ISO
ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 6
ClinVar OMIM
PMID:11059748
NCBI chr 6:130,863,405...130,873,765
Ensembl chr 6:130,863,959...130,872,444
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Tgfbr1
transforming growth factor, beta receptor 1
susceptibility
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Ferguson-Smith type epithelioma | ClinVar Annotator: match by term: Multiple self-healing squamous epithelioma
CTD ClinVar OMIM
PMID:2647812 PMID:5173258 PMID:8499949 PMID:16928994 PMID:19542084 PMID:21358634 PMID:23884466 PMID:24033266 PMID:24793577 PMID:25110237 PMID:25741868 PMID:25834947 PMID:26848186 PMID:26877057 PMID:27611364 PMID:28492532 More...
NCBI chr 5:61,653,773...61,710,777
Ensembl chr 5:61,653,233...61,710,777
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Notch1
notch receptor 1
ISO
ClinVar Annotator: match by term: Keratoacanthoma
ClinVar
PMID:27283355
NCBI chr 3:9,277,955...9,323,531
Ensembl chr 3:9,278,086...9,323,531
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Notch2
notch receptor 2
ISO
ClinVar Annotator: match by term: Keratoacanthoma
ClinVar
PMID:27283355
NCBI chr 2:185,610,594...185,744,088
Ensembl chr 2:185,610,589...185,744,088
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Pik3ca
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
ISO
ClinVar Annotator: match by term: Keratoacanthoma
ClinVar
PMID:23246288 PMID:26619011 PMID:27283355
NCBI chr 2:115,175,275...115,249,034
Ensembl chr 2:115,174,984...115,249,032
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Cd68
Cd68 molecule
ISO
protein:increased expression:tumor (human)
RGD
PMID:22050913
RGD:40925916
NCBI chr10:54,381,814...54,383,693
Ensembl chr10:54,381,815...54,383,697
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Fgfr3
fibroblast growth factor receptor 3
ISO
mRNA:decreased expression:skin (human)
RGD
PMID:28359267
RGD:38500206
NCBI chr14:76,987,242...77,002,671
Ensembl chr14:76,987,993...77,003,341
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Myc
MYC proto-oncogene, bHLH transcription factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25277525
NCBI chr 7:93,593,705...93,598,633
Ensembl chr 7:93,593,705...93,598,630
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Spa17
sperm autoantigenic protein 17
ISO
mRNA,protein:increased expression:nucleus
RGD
PMID:31218705
RGD:27226803
NCBI chr 8:37,307,432...37,318,645
Ensembl chr 8:37,307,557...37,318,639
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Nlrp1a
NLR family, pyrin domain containing 1A
ISO
ClinVar Annotator: match by term: Palmoplantar carcinoma, multiple self-healing
OMIM ClinVar
PMID:17377159 PMID:23349227 PMID:24033266 PMID:25050600 PMID:25741868 PMID:27662089 PMID:28492532 More...
NCBI chr10:55,778,560...55,833,639
Ensembl chr10:55,778,560...55,825,180
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Aopep
aminopeptidase O
ISO
ClinVar Annotator: match by term: Gorlin syndrome
ClinVar
PMID:17703323 PMID:17924555 PMID:22382802 PMID:28492532
NCBI chr17:1,811,922...2,127,316
Ensembl chr17:1,811,980...2,127,331
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Arl3
ADP ribosylation factor like GTPase 3
ISO
ClinVar Annotator: match by term: Gorlin syndrome
ClinVar
PMID:12068298 PMID:22508808 PMID:25403219 PMID:28492532 PMID:31639285
NCBI chr 1:245,400,659...245,446,673
Ensembl chr 1:245,400,550...245,446,820
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Cyp17a1
cytochrome P450, family 17, subfamily a, polypeptide 1
ISO
ClinVar Annotator: match by term: Gorlin syndrome
ClinVar
PMID:12068298 PMID:22508808 PMID:25403219 PMID:28492532 PMID:31639285
NCBI chr 1:245,535,462...245,543,148
Ensembl chr 1:245,535,462...245,541,573
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Fancc
FA complementation group C
ISO
ClinVar Annotator: match by term: Gorlin syndrome
ClinVar
PMID:16301862 PMID:16419085 PMID:17703323 PMID:17924555 PMID:22382802 PMID:28492532 More...
NCBI chr17:1,680,660...1,822,610
Ensembl chr17:1,681,324...1,829,376
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Gli1
GLI family zinc finger 1
ISO
RGD
PMID:15308259
RGD:12801443
NCBI chr 7:63,156,926...63,169,579
Ensembl chr 7:63,156,926...63,169,251
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Gli2
GLI family zinc finger 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16936257
NCBI chr13:29,946,809...30,163,901
Ensembl chr13:29,946,809...30,163,574
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Ptch1
patched 1
ISO
ClinVar Annotator: match by term: Basal cell nevus syndrome | ClinVar Annotator: match by term: Fifth Phacomatosis | ClinVar Annotator: match by term: Gorlin syndrome DNA: splice-site mutation :exon DNA: nonsense mutation:exon:p.W399* (human) DNA:missense mutation:exon:p.E237EK (897G>A) (human) DNA:mutations:exon, intron:multiple CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD RGD
PMID:1347096 PMID:8302318 PMID:8658145 PMID:8681379 PMID:8840969 PMID:8981943 PMID:9096761 PMID:9231911 PMID:9415689 PMID:9463336 PMID:9536098 PMID:9620294 PMID:10048928 PMID:10200051 PMID:10564585 PMID:11941477 PMID:12204003 PMID:12655573 PMID:12879481 PMID:12900905 PMID:12925203 PMID:15042702 PMID:15459969 PMID:15545745 PMID:15565302 PMID:15712338 PMID:16088933 PMID:16199547 PMID:16203740 PMID:16231297 PMID:16301862 PMID:16405370 PMID:16419085 PMID:16508594 PMID:16909134 PMID:16929110 PMID:16931872 PMID:16936257 PMID:17001668 PMID:17021131 PMID:17096318 PMID:17576681 PMID:17703323 PMID:17924555 PMID:18302678 PMID:18373848 PMID:18477452 PMID:18502968 PMID:18510667 PMID:18539553 PMID:18830227 PMID:19002359 PMID:19287498 PMID:19346217 PMID:19557015 PMID:20068110 PMID:20301330 PMID:20485063 PMID:21188540 PMID:21514272 PMID:21520333 PMID:21567912 PMID:22313357 PMID:22382802 PMID:22434048 PMID:22572734 PMID:22675565 PMID:22703879 PMID:22820256 PMID:22952776 PMID:22995991 PMID:23061468 PMID:23313819 PMID:23334667 PMID:23761049 PMID:23951062 PMID:24033266 PMID:24055113 PMID:24204797 PMID:24335643 PMID:24368541 PMID:24529220 PMID:24668667 PMID:24728327 PMID:24942795 PMID:25131638 PMID:25260786 PMID:25326635 PMID:25326637 PMID:25403219 PMID:25525159 PMID:25559776 PMID:25567908 PMID:25637381 PMID:25640679 PMID:25741868 PMID:25876211 PMID:26356331 PMID:26467025 PMID:26489027 PMID:26544948 PMID:26559152 PMID:26604511 PMID:26802149 PMID:26893459 PMID:27028851 PMID:27153395 PMID:27535533 PMID:27561271 PMID:27793025 PMID:27930734 PMID:28342698 PMID:28492532 PMID:28596197 PMID:28690523 PMID:28873162 PMID:29212164 PMID:29277811 PMID:29498494 PMID:29575684 PMID:29983323 PMID:30166346 PMID:30368514 PMID:30584090 PMID:30666157 PMID:30754660 PMID:30936464 PMID:30997576 PMID:31437519 PMID:31655866 PMID:31837199 PMID:32074614 PMID:32238911 PMID:32251017 PMID:32321774 PMID:32409749 PMID:33270637 PMID:33418956 PMID:33729574 PMID:34008892 PMID:23897749 PMID:19557015 PMID:15308259 PMID:21514272 PMID:12925203 More...
RGD:13207424 , RGD:13207421 , RGD:12801443 , RGD:12801422 , RGD:12798568
NCBI chr17:1,542,705...1,607,730
Ensembl chr17:1,542,877...1,607,333
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Ptch2
patched 2
ISO
ClinVar Annotator: match by term: Fifth Phacomatosis | ClinVar Annotator: match by term: Gorlin syndrome
OMIM ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:18285427 PMID:23951062 PMID:25741868 PMID:28166811 PMID:28492532 PMID:28915250 PMID:32864857 More...
NCBI chr 5:130,571,956...130,592,506
Ensembl chr 5:130,572,312...130,592,405
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Pth
parathyroid hormone
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24803734
NCBI chr 1:167,508,121...167,511,530
Ensembl chr 1:167,508,598...167,511,530
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Sfxn2
sideroflexin 2
ISO
ClinVar Annotator: match by term: Gorlin syndrome
ClinVar
PMID:12068298 PMID:22508808 PMID:25403219 PMID:28492532 PMID:31639285
NCBI chr 1:245,447,014...245,459,312
Ensembl chr 1:245,447,015...245,468,411 Ensembl chr 1:245,447,015...245,468,411
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Shh
sonic hedgehog signaling molecule
ISO
RGD
PMID:9115210
RGD:12802345
NCBI chr 4:6,954,017...6,963,170
Ensembl chr 4:6,954,017...6,963,170
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Smo
smoothened, frizzled class receptor
ISO
RGD
PMID:15308259
RGD:12801443
NCBI chr 4:58,344,101...58,372,828
Ensembl chr 4:58,343,529...58,373,829
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Sufu
SUFU negative regulator of hedgehog signaling
ISO
ClinVar Annotator: match by term: Fifth Phacomatosis | ClinVar Annotator: match by term: Gorlin syndrome
OMIM ClinVar
PMID:9536098 PMID:12068298 PMID:16199547 PMID:17102621 PMID:17576681 PMID:19533801 PMID:19833601 PMID:21188540 PMID:22508808 PMID:23826113 PMID:24728327 PMID:25403219 PMID:25640679 PMID:25741868 PMID:26184317 PMID:26467025 PMID:26580448 PMID:27363716 PMID:27930734 PMID:28050010 PMID:28166811 PMID:28492532 PMID:28717660 PMID:28873162 PMID:28965847 PMID:29186568 PMID:29356994 PMID:29641532 PMID:29654263 PMID:29753700 PMID:30256826 PMID:31639285 PMID:32278351 More...
NCBI chr 1:245,257,725...245,355,576
Ensembl chr 1:245,257,768...245,355,577
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Trim8
tripartite motif-containing 8
ISO
ClinVar Annotator: match by term: Gorlin syndrome
ClinVar
PMID:12068298 PMID:22508808 PMID:25403219 PMID:28492532 PMID:31639285
NCBI chr 1:245,369,632...245,384,513
Ensembl chr 1:245,369,632...245,384,513
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Wbp1l
WW domain binding protein 1-like
ISO
ClinVar Annotator: match by term: Gorlin syndrome
ClinVar
PMID:12068298 PMID:22508808 PMID:25403219 PMID:28492532 PMID:31639285
NCBI chr 1:245,472,292...245,528,627
Ensembl chr 1:245,472,296...245,528,627
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Agt
angiotensinogen
ISO
protein:increased expression:serum
RGD
PMID:19394758
RGD:8548874
NCBI chr19:52,529,139...52,549,618
Ensembl chr19:52,529,185...52,540,977
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Akt1
AKT serine/threonine kinase 1
ISO
ClinVar Annotator: match by term: Cutaneous melanoma
ClinVar
PMID:17611497 PMID:18256540 PMID:18392055 PMID:18504432 PMID:18611285 PMID:19418217 PMID:19487299 PMID:19853286 PMID:20233444 PMID:20453058 PMID:21464312 PMID:21512767 PMID:21793738 PMID:22538770 PMID:22610119 PMID:22722201 PMID:22722839 PMID:22980975 PMID:23237847 PMID:23348505 PMID:23700467 PMID:23728071 PMID:23934607 PMID:24190505 PMID:24657128 PMID:25157968 PMID:26619011 PMID:28492532 More...
NCBI chr 6:131,713,716...131,735,319
Ensembl chr 6:131,713,720...131,733,921
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Araf
A-Raf proto-oncogene, serine/threonine kinase
ISO
ClinVar Annotator: match by term: Malignant melanoma of skin
ClinVar
PMID:24569458 PMID:26619011
NCBI chr X:1,227,392...1,292,356
Ensembl chr X:1,227,392...1,239,073
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B2m
beta-2 microglobulin
ISO
ClinVar Annotator: match by term: Cutaneous melanoma
ClinVar
PMID:26619011
NCBI chr 3:109,095,740...109,101,764
Ensembl chr 3:109,095,729...109,101,766
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Bap1
Brca1 associated protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25231345 PMID:26719535
NCBI chr16:6,446,709...6,455,535
Ensembl chr16:6,446,709...6,455,535
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Bcl2l12
Bcl2-like 12
ISO
ClinVar Annotator: match by term: Cutaneous melanoma
ClinVar
PMID:26619011
NCBI chr 1:95,472,272...95,480,991
Ensembl chr 1:95,472,272...95,480,991
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Braf
B-Raf proto-oncogene, serine/threonine kinase
ISO
ClinVar Annotator: match by term: Cutaneous melanoma | ClinVar Annotator: match by term: Malignant melanoma of skin
ClinVar
PMID:2493360 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:16474404 PMID:16772349 PMID:17096326 PMID:17119447 PMID:17311103 PMID:17374713 PMID:17488796 PMID:17603483 PMID:17785355 PMID:18042262 PMID:18186519 PMID:18368129 PMID:18398503 PMID:18794803 PMID:19001320 PMID:19010912 PMID:19018267 PMID:19206169 PMID:19238210 PMID:19383316 PMID:19404918 PMID:19537845 PMID:19561230 PMID:19571295 PMID:19913317 PMID:20008640 PMID:20350999 PMID:20413299 PMID:20619739 PMID:20630094 PMID:20818844 PMID:20823850 PMID:20857202 PMID:21107320 PMID:21107323 PMID:21129611 PMID:21156289 PMID:21163703 PMID:21426297 PMID:21483012 PMID:21502544 PMID:21639808 PMID:21641636 PMID:21683865 PMID:21784453 PMID:21975775 PMID:22038996 PMID:22039425 PMID:22048237 PMID:22113612 PMID:22180495 PMID:22281684 PMID:22310681 PMID:22351686 PMID:22356324 PMID:22389471 PMID:22448344 PMID:22495831 PMID:22536370 PMID:22586120 PMID:22608338 PMID:22649091 PMID:22663011 PMID:22735384 PMID:22743296 PMID:22773810 PMID:22798288 PMID:22805292 PMID:22972589 PMID:22997239 PMID:23020132 PMID:23031422 PMID:23251002 PMID:23273605 PMID:23302800 PMID:23325582 PMID:23352452 PMID:23470635 PMID:23524406 PMID:23549875 PMID:23614898 PMID:23685455 PMID:23715574 PMID:23812671 PMID:23833300 PMID:23845441 PMID:23918947 PMID:24033266 PMID:24107445 PMID:24112392 PMID:24163374 PMID:24303953 PMID:24388723 PMID:24446311 PMID:24451042 PMID:24508103 PMID:24512911 PMID:24576830 PMID:24583796 PMID:24586605 PMID:24594804 PMID:24670642 PMID:24717435 PMID:24920063 PMID:25024077 PMID:25037139 PMID:25079330 PMID:25157968 PMID:25265492 PMID:25265494 PMID:25370471 PMID:25399551 PMID:25463315 PMID:25741868 PMID:25950823 PMID:25989278 PMID:26619011 PMID:26678033 PMID:27236105 PMID:27276561 PMID:27404270 PMID:27480103 PMID:28492532 PMID:28854169 PMID:28891408 PMID:29595366 PMID:29907801 PMID:29925953 PMID:31277584 PMID:31779674 PMID:31891627 PMID:34476331 More...
NCBI chr 4:68,375,484...68,510,652
Ensembl chr 4:68,384,649...68,510,463
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Brca2
BRCA2, DNA repair associated
disease_progression
ISO
DNA:SNP: :rs206118, rs3752447, rs10492396 (human)
RGD
PMID:25243787
RGD:11344896
NCBI chr12:59,492...103,789
Ensembl chr12:59,819...100,567
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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 chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226
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Cd40
CD40 molecule
disease_progression
ISO
RGD
PMID:8952530
RGD:8547772
NCBI chr 3:153,790,372...153,805,279
Ensembl chr 3:153,790,449...153,805,534
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Cdk4
cyclin-dependent kinase 4
ISO
ClinVar Annotator: match by term: Malignant melanoma of skin
ClinVar
PMID:5377176 PMID:7652577 PMID:8528263 PMID:8968104 PMID:9228064 PMID:9425228 PMID:11756559 PMID:15880589 PMID:21801156 PMID:22804906 PMID:23384855 PMID:23546221 PMID:24256466 PMID:25157968 PMID:25741868 PMID:26619011 PMID:28492532 PMID:29774366 More...
NCBI chr 7:62,885,647...62,889,562
Ensembl chr 7:62,883,105...62,942,403
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Cdkn2a
cyclin-dependent kinase inhibitor 2A
ISO
DNA:frameshift mutations, deletions:cds:multiple (human) DNA:missense mutation:exon:p.P48L (human) CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Cutaneous melanoma
CTD ClinVar RGD
PMID:7777061 PMID:7780957 PMID:8521414 PMID:8573142 PMID:8595405 PMID:8668202 PMID:8723678 PMID:8755727 PMID:8834170 PMID:9324288 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:15140233 PMID:15146471 PMID:16234564 PMID:16896043 PMID:16905682 PMID:17576681 PMID:17992122 PMID:18573309 PMID:20505745 PMID:21462282 PMID:21507037 PMID:22080950 PMID:24336570 PMID:25157968 PMID:25356972 PMID:25741868 PMID:26619011 PMID:26681309 PMID:26775776 PMID:28146043 PMID:28492532 PMID:28830827 PMID:29983899 PMID:30291219 PMID:30742731 PMID:20653773 PMID:10338331 More...
RGD:8552276 , RGD:8552302
NCBI chr 5:103,984,949...103,992,143
Ensembl chr 5:103,984,949...104,003,149
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Chaf1b
chromatin assembly factor 1 subunit B
severity
ISO
protein:increased expression:skin:
RGD
PMID:20178651
RGD:9587476
NCBI chr11:33,200,894...33,221,076
Ensembl chr11:33,200,981...33,221,070
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Cnot9
CCR4-NOT transcription complex subunit 9
ISO
ClinVar Annotator: match by term: Malignant melanoma of skin
ClinVar
PMID:26619011
NCBI chr 9:76,084,269...76,109,111
Ensembl chr 9:76,084,334...76,109,100
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Cnr1
cannabinoid receptor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28131817
NCBI chr 5:48,408,543...48,436,099
Ensembl chr 5:48,408,574...48,435,099
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Creb1
cAMP responsive element binding protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29179997
NCBI chr 9:65,903,511...65,972,562
Ensembl chr 9:65,903,547...65,970,816
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Crebbp
CREB binding protein
ISO
ClinVar Annotator: match by term: Cutaneous melanoma
ClinVar
PMID:21390126 PMID:21680795 PMID:21796119 PMID:22832583 PMID:23334668 PMID:23685749 PMID:23778141 PMID:26087898 PMID:26619011 PMID:27257180 PMID:28492532 PMID:28970362 PMID:29551561 PMID:33560380 More...
NCBI chr10:11,335,551...11,461,888
Ensembl chr10:11,335,953...11,461,888
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Crnkl1
crooked neck pre-mRNA splicing factor 1
ISO
ClinVar Annotator: match by term: Cutaneous melanoma
ClinVar
PMID:26619011
NCBI chr 3:133,338,593...133,354,329
Ensembl chr 3:133,337,039...133,354,302
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Ctcf
CCCTC-binding factor
ISO
DNA:mutations:multiple (human)
RGD
PMID:27974201
RGD:151356739
NCBI chr19:33,521,726...33,571,124
Ensembl chr19:33,529,319...33,571,123
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Ctnnb1
catenin beta 1
ISO
ClinVar Annotator: match by term: Cutaneous melanoma | ClinVar Annotator: match by term: Malignant melanoma of skin
ClinVar
PMID:9065402 PMID:9065403 PMID:9294210 PMID:9500465 PMID:9927029 PMID:10027390 PMID:10192393 PMID:10398436 PMID:10435629 PMID:10655994 PMID:10666372 PMID:11351304 PMID:11930117 PMID:11950921 PMID:12124804 PMID:15133491 PMID:19234609 PMID:23265383 PMID:24788118 PMID:25157968 PMID:25741868 PMID:26619011 PMID:26822237 More...
NCBI chr 8:120,640,008...120,667,110
Ensembl chr 8:120,639,995...120,667,111
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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 PMID:31271515
RGD:151347864 , RGD:151347864
NCBI chr20:3,042,494...3,064,442
Ensembl chr20:3,044,320...3,064,468
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Dnmt3b
DNA methyltransferase 3 beta
disease_progression
ISO
RGD
PMID:21081840
RGD:9589074
NCBI chr 3:142,130,592...142,169,124
Ensembl chr 3:142,130,592...142,169,124
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Erbb2
erb-b2 receptor tyrosine kinase 2
ISO
ClinVar Annotator: match by term: Cutaneous melanoma
ClinVar
PMID:18413839 PMID:22046346 PMID:23220880 PMID:25157968 PMID:26619011
NCBI chr10:83,411,197...83,435,078
Ensembl chr10:83,411,313...83,435,078
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Ezh2
enhancer of zeste 2 polycomb repressive complex 2 subunit
ISO
ClinVar Annotator: match by term: Malignant melanoma of skin
ClinVar
PMID:23023262 PMID:24563539 PMID:26619011
NCBI chr 4:76,624,399...76,687,362
Ensembl chr 4:76,624,399...76,687,362
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Fanca
FA complementation group A
disease_progression
ISO
DNA:SNP: :rs62068372 (human)
RGD
PMID:25243787
RGD:11344896
NCBI chr19:51,304,021...51,362,586
Ensembl chr19:51,304,021...51,362,527
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Fancd2
FA complementation group D2
ISO
mRNA,protein:increased expression:skin,nucleus:
RGD
PMID:21697891
RGD:11046262
NCBI chr 4:146,679,014...146,743,422
Ensembl chr 4:146,679,179...146,743,412
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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 2:170,150,552...170,310,698
Ensembl chr 2:170,149,694...170,309,941
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Gna11
G protein subunit alpha 11
ISO
ClinVar Annotator: match by term: Malignant melanoma of skin
ClinVar
PMID:1328859 PMID:2549426 PMID:21083380 PMID:21444680 PMID:22733540 PMID:22808163 PMID:24141786 PMID:25157968 PMID:26619011 More...
NCBI chr 7:8,163,752...8,177,636
Ensembl chr 7:8,162,750...8,179,812
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Gnas
GNAS complex locus
ISO
ClinVar Annotator: match by term: Cutaneous melanoma
ClinVar
PMID:1517386 PMID:1594625 PMID:1944469 PMID:2549426 PMID:3720010 PMID:7739708 PMID:8766942 PMID:9626141 PMID:11093740 PMID:12727968 PMID:12970318 PMID:15126527 PMID:15952988 PMID:16507630 PMID:21835143 PMID:23403822 PMID:23536913 PMID:23843956 PMID:24855271 PMID:25157968 PMID:25719192 PMID:25741868 PMID:26619011 PMID:27398169 PMID:30702195 More...
NCBI chr 3:163,071,003...163,136,350
Ensembl chr 3:163,071,417...163,127,262 Ensembl chr 3:163,071,417...163,127,262
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Gpx1
glutathione peroxidase 1
ISO
mRNA:increased expression:skin of body (human)
RGD
PMID:29535818
RGD:152023655
NCBI chr 8:109,026,905...109,028,031
Ensembl chr 8:109,026,905...109,028,024
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Grm1
glutamate metabotropic receptor 1
ISS
OMIM:155601 | OMIM:608035 | OMIM:609048 | OMIM:612263 | OMIM:613099 | OMIM:613972 | OMIM:614456 | OMIM:615134 | OMIM:615848
MouseDO
NCBI chr 1:5,058,285...5,453,170
Ensembl chr 1:5,058,292...5,453,170
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Gstm1
glutathione S-transferase mu 1
susceptibility
ISO
DNA:deletion:: (human)
RGD
PMID:11352862
RGD:12792221
NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411
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Gstt1
glutathione S-transferase theta 1
susceptibility
ISO
DNA:deletion:: (human)
RGD
PMID:11352862
RGD:12792221
NCBI chr20:12,856,613...12,873,586
Ensembl chr20:12,856,669...12,873,585
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Hif1a
hypoxia inducible factor 1 subunit alpha
ISO
protein:increased expression:epidermis (human)
RGD
PMID:19558170
RGD:8695922
NCBI chr 6:92,624,059...92,669,262
Ensembl chr 6:92,624,390...92,669,261
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Hras
HRas proto-oncogene, GTPase
ISO
ClinVar Annotator: match by term: Cutaneous melanoma
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:17979197 PMID:18039947 PMID:18247425 PMID:18978862 PMID:19206176 PMID:19213030 PMID:19255327 PMID:19371735 PMID:19382114 PMID:19669404 PMID:19773371 PMID:20660566 PMID:20859122 PMID:21438134 PMID:21495179 PMID:21686750 PMID:21850009 PMID:22087699 PMID:22256804 PMID:22317973 PMID:22495892 PMID:22499344 PMID:22683711 PMID:22726224 PMID:22926243 PMID:23093928 PMID:23096712 PMID:23406027 PMID:23429430 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:25914166 PMID:26619011 PMID:27195699 PMID:27283355 PMID:27444071 PMID:27589201 PMID:28139825 PMID:28492532 PMID:29493581 PMID:31394527 PMID:31775759 PMID:34008892 PMID:168335863 More...
NCBI chr 1:196,290,127...196,299,823
Ensembl chr 1:196,296,263...196,300,615
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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 chr 8:19,553,063...19,565,438
Ensembl chr 8:19,553,645...19,565,438
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Idh1
isocitrate dehydrogenase (NADP(+)) 1
ISO
ClinVar Annotator: match by term: Cutaneous melanoma
ClinVar
PMID:18772396 PMID:19657110 PMID:19798509 PMID:19818334 PMID:20946881 PMID:21352804 PMID:21446021 PMID:22160010 PMID:22397365 PMID:22417203 PMID:22898539 PMID:23558169 PMID:24606448 PMID:25043048 PMID:25157968 PMID:25741868 PMID:26619011 PMID:27993330 PMID:30231226 More...
NCBI chr 9:66,534,146...66,563,703
Ensembl chr 9:66,534,146...66,563,708
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Jmjd6
jumonji domain containing 6, arginine demethylase and lysine hydroxylase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30619488
NCBI chr10:102,041,131...102,047,182
Ensembl chr10:102,041,120...102,047,182
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Kit
KIT proto-oncogene receptor tyrosine kinase
ISO
ClinVar Annotator: match by term: Malignant melanoma of skin
ClinVar
PMID:7530509 PMID:9438854 PMID:11073817 PMID:11276010 PMID:11526490 PMID:15790786 PMID:16908931 PMID:17372901 PMID:17824795 PMID:18510589 PMID:18980976 PMID:20545949 PMID:25157968 PMID:26619011 PMID:28492532 More...
NCBI chr14:32,547,459...32,624,694
Ensembl chr14:32,548,877...32,624,652
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Knstrn
kinetochore-localized astrin/SPAG5 binding protein
ISO
ClinVar Annotator: match by term: Cutaneous melanoma
ClinVar
PMID:26619011
NCBI chr 3:105,800,762...105,820,555
Ensembl chr 3:105,800,954...105,820,715
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Kras
KRAS proto-oncogene, GTPase
ISO
ClinVar Annotator: match by term: Cutaneous melanoma
ClinVar
PMID:2278970 PMID:3122217 PMID:12460918 PMID:15696205 PMID:16361624 PMID:16434492 PMID:16618717 PMID:18316791 PMID:18794081 PMID:19075190 PMID:19114683 PMID:19679400 PMID:20921462 PMID:20921465 PMID:21228335 PMID:22407852 PMID:22722830 PMID:23325582 PMID:25157968 PMID:26619011 PMID:30891959 More...
NCBI chr 4:178,185,418...178,218,484
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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
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: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:20979192 PMID:21438134 PMID:21495179 PMID:21686750 PMID:21834037 PMID:21850009 PMID:22087699 PMID:22256804 PMID:22317973 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:25914166 PMID:26619011 PMID:27195699 PMID:27283355 PMID:27444071 PMID:27589201 PMID:28027064 PMID:28139825 PMID:28492532 PMID:29493581 PMID:31394527 PMID:31775759 PMID:34008892 PMID:168335863 More...
NCBI chr 1:196,299,843...196,315,170
Ensembl chr 1:196,299,846...196,315,172
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Map2k1
mitogen activated protein kinase kinase 1
ISO
ClinVar Annotator: match by term: Cutaneous melanoma | ClinVar Annotator: match by term: Malignant melanoma of skin
ClinVar
PMID:17366577 PMID:17551924 PMID:19915144 PMID:21107320 PMID:22197931 PMID:22588879 PMID:23444215 PMID:23569304 PMID:24033266 PMID:24803665 PMID:25157968 PMID:25741868 PMID:26619011 PMID:28049852 More...
NCBI chr 8:64,683,449...64,754,900
Ensembl chr 8:64,683,449...64,755,147
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Map2k2
mitogen activated protein kinase kinase 2
ISO
ClinVar Annotator: match by term: Malignant melanoma of skin
ClinVar
PMID:18042262 PMID:26619011
NCBI chr 7:8,590,729...8,610,279
Ensembl chr 7:8,580,905...8,610,243
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Mitf
melanocyte inducing transcription factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22080950
NCBI chr 4:130,409,020...130,621,145
Ensembl chr 4:130,409,217...130,621,145
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Mmp1
matrix metallopeptidase 1
disease_progression
ISO
DNA:polymorphisms, haplotypes:promoter:multiple DNA:SNPs, haplotype:promoter:multiple
RGD
PMID:20655738 PMID:22198560
RGD:8549726 , RGD:8549727
NCBI chr 8:4,658,588...4,679,099
Ensembl chr 8:4,658,588...4,679,097
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Mmp2
matrix metallopeptidase 2
severity
ISO
mRNA:increased expression:skin
RGD
PMID:20966734 PMID:12404291 PMID:18251742
RGD:8657055 , RGD:13204786 , RGD:8657075
NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870
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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:17346338 PMID:12404291
RGD:8547886 , RGD:13204786
NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
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Mtor
mechanistic target of rapamycin kinase
ISO
ClinVar Annotator: match by term: Cutaneous melanoma
ClinVar
PMID:20190810 PMID:24631838 PMID:26018084 PMID:26619011 PMID:27159400 PMID:27830187 More...
NCBI chr 5:158,884,856...158,994,311
Ensembl chr 5:158,884,804...158,994,311
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Myc
MYC proto-oncogene, bHLH transcription factor
ISO
ClinVar Annotator: match by term: Malignant melanoma of skin
ClinVar
PMID:25157968 PMID:26619011
NCBI chr 7:93,593,705...93,598,633
Ensembl chr 7:93,593,705...93,598,630
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Nras
NRAS proto-oncogene, GTPase
ISO
ClinVar Annotator: match by term: Cutaneous melanoma | ClinVar Annotator: match by term: Malignant melanoma of skin
ClinVar
PMID:1654209 PMID:2278970 PMID:2407301 PMID:2674680 PMID:2989702 PMID:3102434 PMID:3122217 PMID:6587382 PMID:8120410 PMID:10598665 PMID:10821536 PMID:12460918 PMID:12727991 PMID:14508525 PMID:14982869 PMID:15046639 PMID:15831708 PMID:15899789 PMID:15951308 PMID:16273091 PMID:16291983 PMID:16434492 PMID:16518851 PMID:17332249 PMID:17384584 PMID:17517660 PMID:17699718 PMID:18375819 PMID:18390968 PMID:18633438 PMID:18668139 PMID:18794081 PMID:18948947 PMID:18952898 PMID:19047918 PMID:19075190 PMID:19657110 PMID:19775298 PMID:19880792 PMID:19966803 PMID:20130576 PMID:20149136 PMID:20179705 PMID:20406486 PMID:20619739 PMID:20736745 PMID:21079152 PMID:21107323 PMID:21305640 PMID:21576590 PMID:21729679 PMID:21829508 PMID:22144181 PMID:22407852 PMID:22499344 PMID:22718121 PMID:22761467 PMID:22773810 PMID:22962325 PMID:23076151 PMID:23134356 PMID:23334668 PMID:23392294 PMID:23400451 PMID:23414587 PMID:23431193 PMID:23515407 PMID:23538902 PMID:23569304 PMID:23614898 PMID:24006476 PMID:24033266 PMID:24148783 PMID:24284627 PMID:24370118 PMID:24671188 PMID:25157968 PMID:25348872 PMID:25695684 PMID:25741868 PMID:26619011 PMID:26821351 PMID:27050078 PMID:27993330 PMID:28492532 PMID:28594414 PMID:28780248 PMID:30417923 PMID:32888943 More...
NCBI chr 2:190,582,885...190,593,509
Ensembl chr 2:190,582,918...190,591,626
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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:19710684 PMID:24617981 PMID:15889046
RGD:9491818 , RGD:9491831 , RGD:9491829
NCBI chr 1:107,116,278...107,446,093
Ensembl chr 1:107,116,278...107,446,074
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Pik3ca
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
ISO
ClinVar Annotator: match by term: Cutaneous melanoma
ClinVar
PMID:15016963 PMID:15254419 PMID:15520168 PMID:15608678 PMID:15647370 PMID:15805248 PMID:15930273 PMID:16353168 PMID:16906227 PMID:16930767 PMID:17673550 PMID:18371219 PMID:18676830 PMID:18725974 PMID:19029981 PMID:19223544 PMID:19366826 PMID:19513541 PMID:19671852 PMID:19903786 PMID:20177704 PMID:20453058 PMID:20619739 PMID: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: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:27626068 PMID:27631024 PMID:28151489 PMID:28425981 PMID:28492532 PMID:29661094 PMID:29988677 PMID:30376034 PMID:30543347 PMID:31536475 PMID:31568861 PMID:31775759 PMID:32778138 PMID:34008892 PMID:34496175 More...
NCBI chr 2:115,175,275...115,249,034
Ensembl chr 2:115,174,984...115,249,032
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Pik3r1
phosphoinositide-3-kinase regulatory subunit 1
ISO
ClinVar Annotator: match by term: Cutaneous melanoma | ClinVar Annotator: match by term: Malignant melanoma of skin
ClinVar
PMID:19962457 PMID:25157968 PMID:26619011
NCBI chr 2:32,878,942...32,963,611
Ensembl chr 2:32,882,032...32,963,631
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Ppp6c
protein phosphatase 6, catalytic subunit
ISO
ClinVar Annotator: match by term: Malignant melanoma of skin
ClinVar
PMID:26619011
NCBI chr 3:22,929,816...22,962,123
Ensembl chr 3:22,931,577...22,962,113
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Pten
phosphatase and tensin homolog
ISO
ClinVar Annotator: match by term: Cutaneous melanoma
ClinVar
PMID:1945792 PMID:9467011 PMID:9915974 PMID:10866302 PMID:11504908 PMID:11875759 PMID:11948419 PMID:16773562 PMID:17526801 PMID:17942903 PMID:18767981 PMID:19457929 PMID:20085938 PMID:20300775 PMID:21194675 PMID:21659347 PMID:21822720 PMID:21824802 PMID:21828076 PMID:22266152 PMID:22320991 PMID:22327138 PMID:22595938 PMID:23335809 PMID:23361946 PMID:23399955 PMID:23470840 PMID:24292679 PMID:24778394 PMID:25157968 PMID:25527629 PMID:25741868 PMID:26619011 PMID:26798346 PMID:27477328 PMID:27535533 PMID:28475857 PMID:28492532 PMID:29359449 PMID:29706350 PMID:30528446 PMID:31159747 PMID:32350270 PMID:33077954 More...
NCBI chr 1:230,631,303...230,696,754
Ensembl chr 1:230,630,338...230,696,838
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Rac1
Rac family small GTPase 1
ISO
ClinVar Annotator: match by term: Cutaneous melanoma
ClinVar
PMID:25056119 PMID:26619011
NCBI chr12:11,037,028...11,057,251
Ensembl chr12:11,036,698...11,057,251
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Raf1
Raf-1 proto-oncogene, serine/threonine kinase
ISO
ClinVar Annotator: match by term: Cutaneous melanoma
ClinVar
PMID:1760348 PMID:8601312 PMID:10064593 PMID:12077328 PMID:17603482 PMID:17603483 PMID:19568997 PMID:19953625 PMID:20052757 PMID:21440552 PMID:21784453 PMID:22389993 PMID:23312806 PMID:23321623 PMID:23877478 PMID:24033266 PMID:24775816 PMID:25706034 PMID:25741868 PMID:26619011 PMID:28492532 PMID:29084544 PMID:29493581 More...
NCBI chr 4:148,679,534...148,740,265
Ensembl chr 4:148,679,530...148,740,317
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Sf3b1
splicing factor 3b, subunit 1
ISO
ClinVar Annotator: match by term: Malignant melanoma of skin
ClinVar
PMID:23634996 PMID:25741868 PMID:26619011
NCBI chr 9:56,492,403...56,532,300
Ensembl chr 9:56,492,403...56,532,300
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Sf3b2
splicing factor 3b, subunit 2
ISO
ClinVar Annotator: match by term: Malignant melanoma of skin
ClinVar
PMID:26619011
NCBI chr 1:202,570,423...202,590,774
Ensembl chr 1:202,570,423...202,590,759
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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 2:59,963,599...59,996,408
Ensembl chr 2:59,963,706...59,996,317
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Stat3
signal transducer and activator of transcription 3
disease_progression
ISO
RGD
PMID:21876460
RGD:8694297
NCBI chr10:85,811,206...85,863,057
Ensembl chr10:85,811,218...85,863,057
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Stk11
serine/threonine kinase 11
ISO
ClinVar Annotator: match by term: DYSPLASTIC NEVUS SYNDROME, HEREDITARY
ClinVar
PMID:10201537 PMID:10208439 PMID:23555315 PMID:23993471 PMID:24033266 PMID:24830819 PMID:25142776 PMID:25157968 PMID:25179843 PMID:25186627 PMID:25473901 PMID:25741868 PMID:25980754 PMID:26467025 PMID:26898890 PMID:26928227 PMID:26976419 PMID:27443514 PMID:27621404 PMID:28135145 PMID:28202063 PMID:28492532 PMID:28821472 PMID:28873162 PMID:29458332 More...
NCBI chr 7:9,574,553...9,591,315
Ensembl chr 7:9,575,269...9,591,315
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Stk19
serine/threonine kinase 19
ISO
ClinVar Annotator: match by term: Cutaneous melanoma
ClinVar
PMID:26619011
NCBI chr20:3,995,590...4,005,117
Ensembl chr20:3,995,587...4,005,116
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Tp53
tumor protein p53
ISO
ClinVar Annotator: match by term: Cutaneous melanoma | ClinVar Annotator: match by term: Malignant melanoma of skin
ClinVar
PMID:1349175 PMID:1359493 PMID:1565143 PMID:1565144 PMID:1569604 PMID:1631137 PMID:1631151 PMID:1673792 PMID:1683921 PMID:1686725 PMID:1915267 PMID:1978757 PMID:2046748 PMID:7707106 PMID:7732013 PMID:7881428 PMID:7887414 PMID:8023157 PMID:8062826 PMID:8080050 PMID:8099841 PMID:8118819 PMID:8164043 PMID:8364550 PMID:8401536 PMID:8423216 PMID:8425176 PMID:8479749 PMID:8527048 PMID:8633021 PMID:8688334 PMID:8718514 PMID:8825920 PMID:8829627 PMID:8869100 PMID:9242456 PMID:9290701 PMID:9364015 PMID:9407971 PMID:9472631 PMID:9546439 PMID:9569050 PMID:9572492 PMID:9598730 PMID:9632751 PMID:9662334 PMID:9667734 PMID:9825943 PMID:10411893 PMID:10432928 PMID:10519380 PMID:10567903 PMID:10589545 PMID:10713666 PMID:10797439 PMID:10864200 PMID:10914716 PMID:10922393 PMID:11051239 PMID:11139324 PMID:11180592 PMID:11370630 PMID:11429705 PMID:11479205 PMID:11593407 PMID:11782540 PMID:11793474 PMID:11896595 PMID:11920788 PMID:11920959 PMID:12124823 PMID:12509279 PMID:12672316 PMID:12702523 PMID:12726864 PMID:12826609 PMID:12909720 PMID:12917626 PMID:15004724 PMID:15017592 PMID:15037740 PMID:15077194 PMID:15138567 PMID:15161705 PMID:15381368 PMID:15390294 PMID:15541116 PMID:15580553 PMID:15722483 PMID:15825182 PMID:15850016 PMID:15925506 PMID:15951970 PMID:15977174 PMID:15982667 PMID:15993273 PMID:16258005 PMID:16288208 PMID:16312222 PMID:16401470 PMID:16474844 PMID:16489069 PMID:16494995 PMID:16508005 PMID:16633321 PMID:16682957 PMID:16736287 PMID:16778209 PMID:16793544 PMID:16818505 PMID:16827139 PMID:16861262 PMID:17015838 PMID:17311302 PMID:17417627 PMID:17427234 PMID:17530187 PMID:17540308 PMID:17541742 PMID:17567834 PMID:17572079 PMID:17606709 PMID:17636407 PMID:17724467 PMID:17875924 PMID:18208484 PMID:18307025 PMID:18453682 PMID:18511570 PMID:18555592 PMID:18685109 PMID:18978813 PMID:19012332 PMID:19101993 PMID:19147582 PMID:19171880 PMID:19336573 PMID:19378321 PMID:19468865 PMID:19556618 PMID:19834951 PMID:19913028 PMID:20013323 PMID:20028212 PMID:20113312 PMID:20127978 PMID:20128691 PMID:20195489 PMID:20407015 PMID:20505364 PMID:20506564 PMID:20516128 PMID:20522432 PMID:20593220 PMID:20693561 PMID:20805372 PMID:20972454 PMID:21059199 PMID:21113594 PMID:21159183 PMID:21187651 PMID:21232794 PMID:21305319 PMID:21343334 PMID:21356188 PMID:21484931 PMID:21519010 PMID:21522129 PMID:21535297 PMID:21552135 PMID:21601526 PMID:21626334 PMID:21674059 PMID:21760960 PMID:21760996 PMID:21761402 PMID:22006311 PMID:22110706 PMID:22186996 PMID:22198284 PMID:22233476 PMID:22265402 PMID:22427690 PMID:22484423 PMID:22672556 PMID:22713868 PMID:22811390 PMID:22887876 PMID:22899716 PMID:22915647 PMID:22919068 PMID:22923379 PMID:22999923 PMID:23031740 PMID:23124483 PMID:23161690 PMID:23172776 PMID:23246812 PMID:23259501 PMID:23263379 PMID:23264849 PMID:23265383 PMID:23315175 PMID:23334668 PMID:23340422 PMID:23538418 PMID:23625637 PMID:23630318 PMID:23667202 PMID:23792586 PMID:23950206 PMID:23967324 PMID:24033266 PMID:24038938 PMID:24076587 PMID:24381225 PMID:24384472 PMID:24395441 PMID:24487413 PMID:24501221 PMID:24573247 PMID:24603336 PMID:24641375 PMID:24651012 PMID:24651015 PMID:24677579 PMID:24702488 PMID:24728327 PMID:24744791 PMID:24810334 PMID:25123297 PMID:25157968 PMID:25293557 PMID:25339994 PMID:25428789 PMID:25433984 PMID:25503501 PMID:25525159 PMID:25584008 PMID:25584637 PMID:25619955 PMID:25741868 PMID:25757876 PMID:25787918 PMID:25896519 PMID:25925845 PMID:25927356 PMID:25952993 PMID:25980754 PMID:26014290 PMID:26022348 PMID:26024390 PMID:26230955 PMID:26270727 PMID:26467025 PMID:26497680 PMID:26556299 PMID:26585234 PMID:26619011 PMID:26681312 PMID:26787237 PMID:26822237 PMID:26845104 PMID:26878390 PMID:26911350 PMID:26976419 PMID:27022024 PMID:27077130 PMID:27149858 PMID:27179933 PMID:27189670 PMID:27276561 PMID:27328919 PMID:27374712 PMID:27458004 PMID:27463065 PMID:27489289 PMID:27523101 PMID:27616075 PMID:27680515 PMID:27683180 PMID:27724982 PMID:27730344 PMID:27895058 PMID:27959731 PMID:28135145 PMID:28152038 PMID:28279309 PMID:28369373 PMID:28453743 PMID:28472496 PMID:28477316 PMID:28492532 PMID:28724667 PMID:28802053 PMID:28861920 PMID:28873162 PMID:28975465 PMID:29025599 PMID:29126202 PMID:29324801 PMID:29478780 PMID:29489754 PMID:29581140 PMID:29752822 PMID:29979965 PMID:30076369 PMID:30128536 PMID:30216591 PMID:30224644 PMID:30299350 PMID:30306255 PMID:30311369 PMID:30327374 PMID:30352134 PMID:30450585 PMID:30630526 PMID:30675318 PMID:30709381 PMID:30720243 PMID:30816478 PMID:30840781 PMID:31016814 PMID:31206626 PMID:31775759 PMID:32000721 More...
NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
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Tp73
tumor protein p73
ISO
mRNA:increased expression:skin of body (human)
RGD
PMID:30420492
RGD:151347580
NCBI chr 5:164,621,377...164,703,958
Ensembl chr 5:164,621,377...164,681,128
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Tyr
tyrosinase
susceptibility
ISO
DNA:missense mutation:cds:p.R402Q(human)
RGD
PMID:21906913
RGD:8694390
NCBI chr 1:141,115,036...141,210,207
Ensembl chr 1:141,115,036...141,210,207
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Vdr
vitamin D receptor
susceptibility no_association
ISO
DNA:missense mutation, silent mutation: :p,M1T, p.I352 (c.1056T>C) (rs2228570, rs731236) (human) DNA:SNPs: :multiple
RGD
PMID:16990805 PMID:19615888 PMID:22576141
RGD:8157629 , RGD:8158071 , RGD:8158075
NCBI chr 7:128,987,981...129,037,677
Ensembl chr 7:128,987,981...129,037,677
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Ctcf
CCCTC-binding factor
ISO
DNA:mutations:multiple (human)
RGD
PMID:27974201
RGD:151356739
NCBI chr19:33,521,726...33,571,124
Ensembl chr19:33,529,319...33,571,123
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Ddx5
DEAD-box helicase 5
ISO
protein:increased expression:foreskin (human)
RGD
PMID:22548649
RGD:9850272
NCBI chr10:91,723,508...91,732,210
Ensembl chr10:91,723,508...91,732,283
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Fat1
FAT atypical cadherin 1
disease_progression
ISO
associated with Neoplasm Metastasis
RGD
PMID:33328637
RGD:151347447
NCBI chr16:47,177,253...47,296,261
Ensembl chr16:47,177,248...47,296,107
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Fgf10
fibroblast growth factor 10
ISO
Pten conditional KO mouse
RGD
PMID:24582960
RGD:126928134
NCBI chr 2:50,801,897...50,875,428
Ensembl chr 2:50,800,992...50,876,866
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Fyn
FYN proto-oncogene, Src family tyrosine kinase
ISS
MouseDO
NCBI chr20:42,767,733...42,960,903
Ensembl chr20:42,766,369...42,959,911
G
Knstrn
kinetochore-localized astrin/SPAG5 binding protein
ISO
DNA:mutation:cds: p.Ala40Glu (human) DNA:mutation:cds: p.Ser24Phe(human)
RGD
PMID:30972880 PMID:25194279
RGD:28867225 , RGD:28867226
NCBI chr 3:105,800,762...105,820,555
Ensembl chr 3:105,800,954...105,820,715
G
Pten
phosphatase and tensin homolog
ameliorates
ISO
RGD
PMID:24582960
RGD:126928134
NCBI chr 1:230,631,303...230,696,754
Ensembl chr 1:230,630,338...230,696,838
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all