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: EFO:0004198 ; GARD:10421 ; MONDO:0002898 ; NCI:C2920
For additional species annotation, visit the
Alliance of Genome Resources .
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ANXA7
annexin A7
IEP
protein:decreased expression:skin
RGD
PMID:17708571
RGD:2292654
NCBI chr10:73,375,101...73,414,058
Ensembl chr10:73,375,101...73,414,076
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CHUK
component of inhibitor of nuclear factor kappa B kinase complex
ISO
RGD
PMID:21755017
RGD:13504775
NCBI chr10:100,186,319...100,229,596
Ensembl chr10:100,188,300...100,229,596
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CRKL
CRK like proto-oncogene, adaptor protein
IEP
RGD
PMID:16391854
RGD:7488899
NCBI chr22:20,917,407...20,953,747
Ensembl chr22:20,917,407...20,953,747
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PML
PML nuclear body scaffold
severity
IMP
human gene in a mouse model
RGD
PMID:19058256
RGD:41404688
NCBI chr15:73,994,716...74,047,827
Ensembl chr15:73,994,673...74,047,827
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SNAI1
snail family transcriptional repressor 1
ISS
MouseDO
NCBI chr20:49,982,980...49,988,886
Ensembl chr20:49,982,980...49,988,886
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SRSF6
serine and arginine rich splicing factor 6
IEP
protein:increased expression:skin (human)
RGD
PMID:24440982
RGD:11039481
NCBI chr20:43,457,896...43,464,243
Ensembl chr20:43,457,893...43,466,046
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ABI3BP
ABI family member 3 binding protein
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:36428691
NCBI chr 3:100,749,156...100,993,421
Ensembl chr 3:100,749,156...100,993,515
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ACAA2
acetyl-CoA acyltransferase 2
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:36428691
NCBI chr18:49,782,164...49,813,533
Ensembl chr18:49,782,164...49,813,953
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ACADL
acyl-CoA dehydrogenase long chain
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:36428691
NCBI chr 2:210,187,923...210,225,447
Ensembl chr 2:210,187,126...210,225,447
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ADAM23
ADAM metallopeptidase domain 23
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:36428691
NCBI chr 2:206,443,532...206,621,127
Ensembl chr 2:206,443,532...206,621,127
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ALCAM
activated leukocyte cell adhesion molecule
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:36428691
NCBI chr 3:105,366,909...105,576,900
Ensembl chr 3:105,366,909...105,576,900
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ALYREF
Aly/REF export factor
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:36428691
NCBI chr17:81,887,835...81,891,587
Ensembl chr17:81,887,835...81,891,586
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ARID5B
AT-rich interaction domain 5B
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:36428691
NCBI chr10:61,901,699...62,096,944
Ensembl chr10:61,901,684...62,096,944
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ARPC1B
actin related protein 2/3 complex subunit 1B
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:36428691
NCBI chr 7:99,374,259...99,394,816
Ensembl chr 7:99,374,249...99,394,816
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ASIP
agouti signaling protein
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:18488027
NCBI chr20:34,186,493...34,269,344
Ensembl chr20:34,194,569...34,269,344
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ATF2
activating transcription factor 2
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:36428691
NCBI chr 2:175,072,259...175,168,203
Ensembl chr 2:175,072,250...175,168,382
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ATP5PB
ATP synthase peripheral stalk-membrane subunit b
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:36428691
NCBI chr 1:111,449,464...111,462,773
Ensembl chr 1:111,448,864...111,462,773
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BAP1
BRCA1 associated deubiquitinase 1
IAGP EXP
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:26719535 PMID:25080371
RGD:9586038
NCBI chr 3:52,401,008...52,410,008
Ensembl chr 3:52,401,008...52,410,008
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BASP1
brain abundant membrane attached signal protein 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:36428691
NCBI chr 5:17,216,823...17,276,834
Ensembl chr 5:17,065,598...17,276,843
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BNC2
basonuclin zinc finger protein 2
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:36428691
NCBI chr 9:16,409,503...16,870,670
Ensembl chr 9:16,409,503...16,870,843
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C1QA
complement C1q A chain
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:36428691
NCBI chr 1:22,636,463...22,639,678
Ensembl chr 1:22,635,077...22,639,678
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C1QTNF1
C1q and TNF related 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:36428691
NCBI chr17:79,022,934...79,049,788
Ensembl chr17:79,022,814...79,049,788
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CAV1
caveolin 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:36428691
NCBI chr 7:116,525,009...116,561,185
Ensembl chr 7:116,524,994...116,561,179
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CCDC152
coiled-coil domain containing 152
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:36428691
NCBI chr 5:42,756,818...42,802,439
Ensembl chr 5:42,756,818...42,802,439
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CCNH
cyclin H
IAGP
ClinVar Annotator: match by term: Basal cell carcinoma, susceptibility to, 1 ClinVar Annotator: match by term: RASA1-related condition ClinVar Annotator: match by term: Basal cell carcinoma, susceptibility to, 1 | ClinVar Annotator: match by term: RASA1-related condition ClinVar Annotator: match by term: BCC1 | ClinVar Annotator: match by term: RASA1-related condition ClinVar Annotator: match by term: BCC1 | ClinVar Annotator: match by term: Basal cell carcinoma, susceptibility to, 1 ClinVar Annotator: match by term: Basal cell carcinoma, somatic
ClinVar
PMID:8275088 PMID:9219684 PMID:15574420 PMID:18363760 PMID:18446851 PMID:24038909 PMID:24274751 PMID:25040287 PMID:25741868 PMID:27081547 PMID:28295764 PMID:28492532 PMID:28655553 PMID:29891884 PMID:33248299 PMID:36980822 More...
NCBI chr 5:87,311,471...87,412,930
Ensembl chr 5:87,318,416...87,413,029
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CHCHD7
coiled-coil-helix-coiled-coil-helix domain containing 7
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:36428691
NCBI chr 8:56,211,789...56,218,809
Ensembl chr 8:56,211,686...56,218,809
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CHD3
chromodomain helicase DNA binding protein 3
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:36428691
NCBI chr17:7,884,796...7,912,755
Ensembl chr17:7,884,796...7,912,760
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CHGA
chromogranin A
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:36428691
NCBI chr14:92,922,664...92,935,285
Ensembl chr14:92,923,150...92,935,285
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CLPTM1L
CLPTM1 like
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:19151717
NCBI chr 5:1,317,752...1,345,099
Ensembl chr 5:1,317,752...1,345,099
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COA3
cytochrome c oxidase assembly factor 3
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:36428691
NCBI chr17:42,797,625...42,798,704
Ensembl chr17:42,795,147...42,798,704
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COA7
cytochrome c oxidase assembly factor 7
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:36428691
NCBI chr 1:52,684,449...52,698,347
Ensembl chr 1:52,684,449...52,698,347
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CREB5
cAMP responsive element binding protein 5
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:36428691
NCBI chr 7:28,299,321...28,825,894
Ensembl chr 7:28,299,321...28,825,894
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CRNKL1
crooked neck pre-mRNA splicing factor 1
IAGP
DNA:missense mutation:cds:p.S128F (human)
RGD
PMID:23774526
RGD:9850250
NCBI chr20:20,034,368...20,056,046
Ensembl chr20:20,034,368...20,056,046
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CSPG4
chondroitin sulfate proteoglycan 4
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:36428691
NCBI chr15:75,674,322...75,713,466
Ensembl chr15:75,674,322...75,712,848
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CTCF
CCCTC-binding factor
IAGP
DNA:mutations:multiple (human)
RGD
PMID:27974201
RGD:151356739
NCBI chr16:67,562,526...67,639,185
Ensembl chr16:67,562,467...67,639,177
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CTLA4
cytotoxic T-lymphocyte associated protein 4
susceptibility
IAGP
DNA:SNP: :rs3087243(human)
RGD
PMID:19622768
RGD:7411686
NCBI chr 2:203,867,771...203,873,965
Ensembl chr 2:203,853,888...203,873,965
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DCLRE1A
DNA cross-link repair 1A
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:36428691
NCBI chr10:113,834,725...113,854,394
Ensembl chr10:113,834,725...113,854,383
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DCP1B
decapping mRNA 1B
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:36428691
NCBI chr12:1,941,591...2,004,457
Ensembl chr12:1,946,053...2,004,535
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DHX15
DEAH-box helicase 15
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:36428691
NCBI chr 4:24,527,475...24,584,554
Ensembl chr 4:24,517,441...24,584,554
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DIO2
iodothyronine deiodinase 2
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:36428691
NCBI chr14:80,197,526...80,231,057
Ensembl chr14:80,197,526...80,387,757
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DSC2
desmocollin 2
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:36428691
NCBI chr18:31,058,840...31,102,421
Ensembl chr18:31,058,545...31,102,600
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DUSP10
dual specificity phosphatase 10
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:36428691
NCBI chr 1:221,701,424...221,742,089
Ensembl chr 1:221,701,424...221,742,089
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EDN1
endothelin 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:36428691
NCBI chr 6:12,230,516...12,297,194
Ensembl chr 6:12,290,361...12,297,194
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ELK3
ETS transcription factor ELK3
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:36428691
NCBI chr12:96,194,375...96,269,824
Ensembl chr12:96,194,375...96,269,824
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ERBB2
erb-b2 receptor tyrosine kinase 2
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:26950094
NCBI chr17:39,688,094...39,728,658
Ensembl chr17:39,687,914...39,730,426
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FAM234A
family with sequence similarity 234 member A
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:36428691
NCBI chr16:234,821...269,963
Ensembl chr16:234,521...272,183
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FARP1
FERM, ARH/RhoGEF and pleckstrin domain protein 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:36428691
NCBI chr13:98,142,589...98,455,176
Ensembl chr13:98,142,562...98,455,176
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FBN3
fibrillin 3
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:36428691
NCBI chr19:8,065,402...8,149,592
Ensembl chr19:8,065,402...8,149,592
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FBXW7
F-box and WD repeat domain containing 7
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:26950094
NCBI chr 4:152,320,544...152,536,092
Ensembl chr 4:152,320,544...152,536,092
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FMO2
flavin containing dimethylaniline monoxygenase 2
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:36428691
NCBI chr 1:171,185,208...171,212,686
Ensembl chr 1:171,185,249...171,212,686
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FNBP1L
formin binding protein 1 like
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:36428691
NCBI chr 1:93,448,118...93,554,661
Ensembl chr 1:93,448,118...93,554,661
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FSCN1
fascin actin-bundling protein 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:36428691
NCBI chr 7:5,592,816...5,606,655
Ensembl chr 7:5,592,816...5,606,655
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GALNT15
polypeptide N-acetylgalactosaminyltransferase 15
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:36428691
NCBI chr 3:16,174,680...16,248,224
Ensembl chr 3:16,174,680...16,231,992
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GJB6
gap junction protein beta 6
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:36428691
NCBI chr13:20,221,962...20,232,319
Ensembl chr13:20,221,962...20,232,365
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GLI2
GLI family zinc finger 2
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:10700170 PMID:36428691
NCBI chr 2:120,735,868...120,992,653
Ensembl chr 2:120,735,623...120,992,653
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GPX8
glutathione peroxidase 8 (putative)
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:36428691
NCBI chr 5:55,160,171...55,167,297
Ensembl chr 5:55,160,167...55,167,297
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GRM5
glutamate metabotropic receptor 5
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:36428691
NCBI chr11:88,504,642...89,065,982
Ensembl chr11:88,504,576...89,065,982
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GTF2I
general transcription factor IIi
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:36428691
NCBI chr 7:74,657,718...74,760,692
Ensembl chr 7:74,650,231...74,760,692
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HHIP
hedgehog interacting protein
treatment
ISO
mRNA:increased expression:skin:
RGD
PMID:15024045 PMID:15024045
RGD:11552592 , RGD:11552592
NCBI chr 4:144,646,156...144,745,271
Ensembl chr 4:144,646,156...144,745,271
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HMGN1P38
high mobility group nucleosome binding domain 1 pseudogene 38
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:36428691
NCBI chr15:92,711,694...92,712,907
Ensembl chr15:92,711,808...92,712,110
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IFT88
intraflagellar transport 88
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:36428691
NCBI chr13:20,567,157...20,691,444
Ensembl chr13:20,567,138...20,691,444
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IGF2BP1
insulin like growth factor 2 mRNA binding protein 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:36428691
NCBI chr17:48,996,558...49,056,145
Ensembl chr17:48,997,385...49,056,145
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IGF2BP2
insulin like growth factor 2 mRNA binding protein 2
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:36428691
NCBI chr 3:185,643,130...185,825,042
Ensembl chr 3:185,643,130...185,825,042
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IL6
interleukin 6
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:22108589
NCBI chr 7:22,727,200...22,731,998
Ensembl chr 7:22,725,884...22,732,002
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INPP4A
inositol polyphosphate-4-phosphatase type I A
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:36428691
NCBI chr 2:98,444,587...98,594,392
Ensembl chr 2:98,444,854...98,594,392
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IRS4
insulin receptor substrate 4
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:36428691
NCBI chr X:108,719,946...108,736,563
Ensembl chr X:108,719,946...108,736,563
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IRX1
iroquois homeobox 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:36428691
NCBI chr 5:3,595,832...3,601,403
Ensembl chr 5:3,595,832...3,601,403
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JUN
Jun proto-oncogene, AP-1 transcription factor subunit
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:36428691
NCBI chr 1:58,780,791...58,784,047
Ensembl chr 1:58,776,845...58,784,048
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KRT17
keratin 17
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:20871598 PMID:36428691
NCBI chr17:41,619,442...41,624,575
Ensembl chr17:41,619,442...41,624,842
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KRT5
keratin 5
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:19578363 PMID:20871598
NCBI chr12:52,514,575...52,520,394
Ensembl chr12:52,514,575...52,520,530
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LATS1
large tumor suppressor kinase 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:26950094
NCBI chr 6:149,658,153...149,718,101
Ensembl chr 6:149,658,153...149,718,105
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LEF1
lymphoid enhancer binding factor 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:36428691
NCBI chr 4:108,047,548...108,168,932
Ensembl chr 4:108,047,545...108,168,956
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LGR5
leucine rich repeat containing G protein-coupled receptor 5
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:36428691
NCBI chr12:71,439,129...71,586,310
Ensembl chr12:71,439,798...71,586,310
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LITAF
lipopolysaccharide induced TNF factor
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:36428691
NCBI chr16:11,547,722...11,640,317
Ensembl chr16:11,546,875...11,636,381
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LMAN1
lectin, mannose binding 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:36428691
NCBI chr18:59,327,823...59,359,265
Ensembl chr18:59,327,823...59,359,265
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LOC100507346
uncharacterized LOC100507346
IAGP
ClinVar Annotator: match by term: Basal cell carcinoma, susceptibility to, 1 ClinVar Annotator: match by term: BCC1 | ClinVar Annotator: match by term: Basal cell carcinoma, susceptibility to, 1
ClinVar
PMID:11941477 PMID:16301862 PMID:16419085 PMID:17096318 PMID:22703879 PMID:24728327 PMID:24807215 PMID:25741868 PMID:26467025 PMID:26580448 PMID:28492532 PMID:29575684 PMID:31613886 More...
NCBI chr 9:95,463,609...95,470,019
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LOC130002133
ATAC-STARR-seq lymphoblastoid silent region 20071
IAGP
ClinVar Annotator: match by term: Basal cell carcinoma, susceptibility to, 1 ClinVar Annotator: match by term: BCC1
ClinVar
PMID:24728327 PMID:25741868 PMID:26467025 PMID:28492532 PMID:30093976
NCBI chr 9:95,508,202...95,508,521
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LPL
lipoprotein lipase
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:36428691
NCBI chr 8:19,939,253...19,967,259
Ensembl chr 8:19,901,717...19,967,259
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LRIG3
leucine rich repeats and immunoglobulin like domains 3
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:36428691
NCBI chr12:58,872,155...58,920,504
Ensembl chr12:58,872,149...58,920,504
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LRRCC1
leucine rich repeat and coiled-coil centrosomal protein 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:36428691
NCBI chr 8:85,107,238...85,146,080
Ensembl chr 8:85,107,215...85,146,080
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LTBP1
latent transforming growth factor beta binding protein 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:36428691
NCBI chr 2:32,946,953...33,399,509
Ensembl chr 2:32,946,953...33,399,509
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MARCKSL1
MARCKS like 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:36428691
NCBI chr 1:32,333,839...32,336,233
Ensembl chr 1:32,333,839...32,336,233
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MC1R
melanocortin 1 receptor
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:18539553
NCBI chr16:89,918,862...89,920,972
Ensembl chr16:89,912,119...89,920,973
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MEX3A
mex-3 RNA binding family member A
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:36428691
NCBI chr 1:156,072,013...156,082,465
Ensembl chr 1:156,072,013...156,082,465
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MGAT5
alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:36428691
NCBI chr 2:134,119,935...134,454,621
Ensembl chr 2:134,119,983...134,454,621
G
MMP11
matrix metallopeptidase 11
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:36428691
NCBI chr22:23,772,849...23,784,316
Ensembl chr22:23,768,226...23,784,316
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MPPED1
metallophosphoesterase domain containing 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:36428691
NCBI chr22:43,412,014...43,507,848
Ensembl chr22:43,411,196...43,507,848
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MT-TS1
mitochondrially encoded tRNA-Ser (UCN) 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:36428691
NCBI chr MT:7,446...7,514
Ensembl chr MT:7,446...7,514
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MYCN
MYCN proto-oncogene, bHLH transcription factor
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:26950094
NCBI chr 2:15,940,550...15,947,004
Ensembl chr 2:15,940,550...15,947,007
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MYH9
myosin heavy chain 9
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:36428691
NCBI chr22:36,281,280...36,387,967
Ensembl chr22:36,281,280...36,388,010
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NBAT1
neuroblastoma associated transcript 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:36428691
NCBI chr 6:22,134,602...22,147,193
Ensembl chr 6:22,133,205...22,222,641
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NNMT
nicotinamide N-methyltransferase
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:36428691
NCBI chr11:114,257,806...114,313,536
Ensembl chr11:114,257,787...114,313,536
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NUDCD1
NudC domain containing 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:36428691
NCBI chr 8:109,240,919...109,334,087
Ensembl chr 8:109,240,919...109,334,121
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NXN
nucleoredoxin
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:36428691
NCBI chr17:799,310...979,776
Ensembl chr17:799,310...979,776
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OCA2
OCA2 melanosomal transmembrane protein
susceptibility
IAGP
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 chr15:27,719,008...28,099,315
Ensembl chr15:27,754,875...28,099,315
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OGG1
8-oxoguanine DNA glycosylase
no_association
IEP IAGP
DNA:missense mutation: :p.S326C (rs1052133)(human)
RGD
PMID:22436579 PMID:15466987
RGD:8657137 , RGD:8657158
NCBI chr 3:9,749,952...9,783,108
Ensembl chr 3:9,749,944...9,788,219
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OSCP1
organic solute carrier partner 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:36428691
NCBI chr 1:36,417,906...36,450,451
Ensembl chr 1:36,415,827...36,450,451
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PALB2
partner and localizer of BRCA2
IAGP
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 PMID:32339256 PMID:32566746 PMID:33471991 More...
NCBI chr16:23,603,165...23,641,310
Ensembl chr16:23,603,160...23,641,321
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PALM
paralemmin
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:36428691
NCBI chr19:708,935...748,329
Ensembl chr19:708,935...748,329
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PELI2
pellino E3 ubiquitin protein ligase family member 2
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:36428691
NCBI chr14:56,118,411...56,301,524
Ensembl chr14:56,117,814...56,301,524
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PIK3CA
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:26950094
NCBI chr 3:179,148,126...179,240,093
Ensembl chr 3:179,148,114...179,240,093
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PLAG1
PLAG1 zinc finger
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:36428691
NCBI chr 8:56,160,909...56,211,273
Ensembl chr 8:56,160,909...56,211,324
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PNMA1
PNMA family member 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:36428691
NCBI chr14:73,711,783...73,714,384
Ensembl chr14:73,711,783...73,714,384
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PPP6C
protein phosphatase 6 catalytic subunit
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:26950094
NCBI chr 9:125,146,573...125,189,803
Ensembl chr 9:125,146,573...125,189,939
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PROCR
protein C receptor
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:36428691
NCBI chr20:35,171,096...35,216,259
Ensembl chr20:35,172,072...35,216,240
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PTCH1
patched 1
disease_progression
IEP IAGP EXP ISS
mRNA:increased expression:skin of body ClinVar Annotator: match by term: BCC1 | ClinVar Annotator: match by term: Basal cell carcinoma, susceptibility to, 1 CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Basal cell carcinoma, somatic
ClinVar CTD MouseDO OMIM RGD
PMID:8782823 PMID:8840969 PMID:9581815 PMID:9620294 PMID:11231326 PMID:11941477 PMID:12925203 PMID:15712338 PMID:16301862 PMID:16419085 PMID:16508594 PMID:17096318 PMID:18510667 PMID:18854826 PMID:22703879 PMID:23951062 PMID:24728327 PMID:24807215 PMID:25637381 PMID:25741868 PMID:26467025 PMID:26580448 PMID:26950094 PMID:27153395 PMID:28492532 PMID:28495808 PMID:29205322 PMID:29212164 PMID:29575684 PMID:29654263 PMID:30093976 PMID:30102335 PMID:30411536 PMID:31613886 PMID:31645765 PMID:32409749 PMID:33270637 PMID:33332384 PMID:33674644 PMID:36428691 PMID:10504535 More...
RGD:12801453
NCBI chr 9:95,442,980...95,516,971
Ensembl chr 9:95,442,980...95,517,057
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PTCH2
patched 2
IAGP EXP
ClinVar Annotator: match by term: Basal cell carcinoma, somatic ClinVar Annotator: match by term: PTCH2-related condition ClinVar Annotator: match by term: BCC1 | ClinVar Annotator: match by term: Basal cell carcinoma, susceptibility to, 1 | ClinVar Annotator: match by term: PTCH2-related condition CTD Direct Evidence: marker/mechanism
ClinVar CTD OMIM
PMID:9536098 PMID:9931336 PMID:17576681 PMID:25741868 PMID:28492532 PMID:31945512 PMID:36428691 More...
NCBI chr 1:44,819,845...44,843,253
Ensembl chr 1:44,819,154...44,843,253
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PTPN14
protein tyrosine phosphatase non-receptor type 14
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:26950094
NCBI chr 1:214,348,700...214,551,602
Ensembl chr 1:214,348,700...214,552,449
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PYCR2
pyrroline-5-carboxylate reductase 2
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:36428691
NCBI chr 1:225,919,878...225,924,250
Ensembl chr 1:225,919,877...225,924,340
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RAB28
RAB28, member RAS oncogene family
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:36428691
NCBI chr 4:13,367,724...13,484,340
Ensembl chr 4:13,361,354...13,484,365
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RAC3
Rac family small GTPase 3
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:36428691
NCBI chr17:82,031,678...82,034,204
Ensembl chr17:82,031,678...82,034,204
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RASA1
RAS p21 protein activator 1
IAGP EXP
DNA:missense mutations:cds: (human) ClinVar Annotator: match by term: RASA1-related condition ClinVar Annotator: match by term: Basal cell carcinoma, susceptibility to, 1 | ClinVar Annotator: match by term: RASA1-related condition ClinVar Annotator: match by term: BCC1 | ClinVar Annotator: match by term: Basal cell carcinoma, susceptibility to, 1 | ClinVar Annotator: match by term: RASA1-related condition ClinVar Annotator: match by term: Basal cell carcinoma, susceptibility to, 1 | ClinVar Annotator: match by term: PTCH2-related condition ClinVar Annotator: match by term: Basal cell carcinoma, somatic CTD Direct Evidence: marker/mechanism
ClinVar CTD OMIM RGD
PMID:8275088 PMID:9219684 PMID:15574420 PMID:18363760 PMID:18446851 PMID:22200646 PMID:23801933 PMID:24038909 PMID:24274751 PMID:25040287 PMID:25741868 PMID:27081547 PMID:28295764 PMID:28492532 PMID:28655553 PMID:29891884 PMID:33248299 PMID:36980822 PMID:8275088 More...
RGD:737716
NCBI chr 5:87,267,883...87,391,916
Ensembl chr 5:87,267,883...87,391,931
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RB1
RB transcriptional corepressor 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:26950094
NCBI chr13:48,303,751...48,481,890
Ensembl chr13:48,303,744...48,599,436
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RBP1
retinol binding protein 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:36428691
NCBI chr 3:139,517,438...139,539,742
Ensembl chr 3:139,517,434...139,539,829
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RGCC
regulator of cell cycle
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:36428691
NCBI chr13:41,457,550...41,470,871
Ensembl chr13:41,457,550...41,470,871
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RN7SL776P
RNA, 7SL, cytoplasmic 776, pseudogene
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:36428691
NCBI chr 4:167,400,495...167,400,762
Ensembl chr 4:167,400,495...167,400,762
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ROCK1
Rho associated coiled-coil containing protein kinase 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:36428691
NCBI chr18:20,946,906...21,111,813
Ensembl chr18:20,944,612...21,111,813
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RPE65
retinoid isomerohydrolase RPE65
IEP
mRNA:increased expression:skin (human)
RGD
PMID:16181461
RGD:9495923
NCBI chr 1:68,428,822...68,449,954
Ensembl chr 1:68,428,822...68,451,103
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RUNX1T1
RUNX1 partner transcriptional co-repressor 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:36428691
NCBI chr 8:91,954,967...92,103,385
Ensembl chr 8:91,954,972...92,103,385
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SCAMP5
secretory carrier membrane protein 5
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:36428691
NCBI chr15:74,995,563...75,021,495
Ensembl chr15:74,957,219...75,021,495
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SETBP1
SET binding protein 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:36428691
NCBI chr18:44,680,073...45,068,510
Ensembl chr18:44,680,173...45,068,510
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SH3BP4
SH3 domain binding protein 4
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:36428691
NCBI chr 2:234,952,017...235,055,714
Ensembl chr 2:234,952,017...235,055,714
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SHH
sonic hedgehog signaling molecule
IDA
DNA, protein:hypermethylation, decreased expression:skin of body
RGD
PMID:23284750
RGD:12801452
NCBI chr 7:155,799,980...155,812,463
Ensembl chr 7:155,799,980...155,812,463
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SHOX2
SHOX homeobox 2
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:36428691
NCBI chr 3:158,095,905...158,106,420
Ensembl chr 3:158,095,905...158,106,420
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SLC45A2
solute carrier family 45 member 2
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:19578363
NCBI chr 5:33,944,623...33,984,693
Ensembl chr 5:33,944,623...33,984,693
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SLC7A2
solute carrier family 7 member 2
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:36428691
NCBI chr 8:17,494,069...17,570,566
Ensembl chr 8:17,497,088...17,570,573
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SLCO2A1
solute carrier organic anion transporter family member 2A1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:36428691
NCBI chr 3:133,932,701...134,029,925
Ensembl chr 3:133,932,701...134,052,184
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SMO
smoothened, frizzled class receptor
disease_progression
IAGP EXP IEP
DNA:missense mutations:cds:p.W535L, p.R562Q (human) ClinVar Annotator: match by term: Basal cell carcinoma, somatic ClinVar Annotator: match by term: BCC1 CTD Direct Evidence: marker/mechanism mRNA:increased expression:skin of body
ClinVar OMIM CTD RGD
PMID:9422511 PMID:9581815 PMID:25741868 PMID:26950094 PMID:28492532 PMID:9422511 PMID:10504535 More...
RGD:704355 , RGD:12801453
NCBI chr 7:129,188,633...129,213,545
Ensembl chr 7:129,188,633...129,213,545
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SNORA75
small nucleolar RNA, H/ACA box 75
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:36428691
NCBI chr 2:231,455,800...231,455,936
Ensembl chr 2:231,455,800...231,455,936
G
SOBP
sine oculis binding protein homolog
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:36428691
NCBI chr 6:107,490,117...107,661,306
Ensembl chr 6:107,490,106...107,661,306
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SOX18
SRY-box transcription factor 18
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:36428691
NCBI chr20:64,047,582...64,049,639
Ensembl chr20:64,047,582...64,049,639
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SOX4
SRY-box transcription factor 4
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:36428691
NCBI chr 6:21,593,751...21,598,619
Ensembl chr 6:21,593,751...21,598,619
G
SPON2
spondin 2
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:36428691
NCBI chr 4:1,166,932...1,208,844
Ensembl chr 4:1,166,932...1,208,962
G
SRGAP1
SLIT-ROBO Rho GTPase activating protein 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:36428691
NCBI chr12:63,844,700...64,162,217
Ensembl chr12:63,843,761...64,162,217
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SSR3
signal sequence receptor subunit 3
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:36428691
NCBI chr 3:156,539,553...156,555,117
Ensembl chr 3:156,539,553...156,555,149
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STMN1
stathmin 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:36428691
NCBI chr 1:25,884,179...25,906,880
Ensembl chr 1:25,884,181...25,906,991
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SUFU
SUFU negative regulator of hedgehog signaling
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:26950094
NCBI chr10:102,502,819...102,633,535
Ensembl chr10:102,503,972...102,633,535
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SYNJ1
synaptojanin 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:36428691
NCBI chr21:32,628,759...32,728,394
Ensembl chr21:32,628,759...32,728,040
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TBX1
T-box transcription factor 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:36428691
NCBI chr22:19,756,703...19,783,593
Ensembl chr22:19,756,703...19,783,593
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TERT
telomerase reverse transcriptase
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:19151717
NCBI chr 5:1,253,167...1,295,068
Ensembl chr 5:1,253,147...1,295,068
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TGFB2
transforming growth factor beta 2
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:36428691
NCBI chr 1:218,345,336...218,444,619
Ensembl chr 1:218,345,336...218,444,619
G
TGS1
trimethylguanosine synthase 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:36428691
NCBI chr 8:55,773,446...55,826,445
Ensembl chr 8:55,773,446...55,826,445
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TM4SF1
transmembrane 4 L six family member 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:36428691
NCBI chr 3:149,369,022...149,377,649
Ensembl chr 3:149,369,022...149,377,692
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TMCO3
transmembrane and coiled-coil domains 3
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:36428691
NCBI chr13:113,491,021...113,550,229
Ensembl chr13:113,491,021...113,554,590
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TMEM104
transmembrane protein 104
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:36428691
NCBI chr17:74,776,499...74,839,753
Ensembl chr17:74,776,499...74,839,753
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TMEM170A
transmembrane protein 170A
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:36428691
NCBI chr16:75,443,054...75,464,737
Ensembl chr16:75,443,054...75,465,497
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TMEM176B
transmembrane protein 176B
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:36428691
NCBI chr 7:150,791,301...150,801,360
Ensembl chr 7:150,791,285...150,801,360
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TMEM19
transmembrane protein 19
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:36428691
NCBI chr12:71,686,082...71,705,047
Ensembl chr12:71,686,082...71,705,047
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TMEM217
transmembrane protein 217
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:36428691
NCBI chr 6:37,212,181...37,258,144
Ensembl chr 6:37,212,180...37,258,155
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TP53
tumor protein p53
IAGP EXP IEP
DNA:mutations:cds: ClinVar Annotator: match by term: Basal cell carcinoma, susceptibility to, 7 CTD Direct Evidence: marker/mechanism
ClinVar OMIM CTD RGD
PMID:1565143 PMID:1565144 PMID:1591732 PMID:1631137 PMID:1683921 PMID:1975675 PMID:1978757 PMID:1999338 PMID:2046748 PMID:2932480 PMID:4122735 PMID:7565304 PMID:7732013 PMID:7783166 PMID:7887414 PMID:8023157 PMID:8062826 PMID:8118819 PMID:8164043 PMID:8242752 PMID:8423216 PMID:8425176 PMID:8479749 PMID:8550239 PMID:8718514 PMID:8825920 PMID:9047394 PMID:9218725 PMID:9242456 PMID:9364015 PMID:9399838 PMID:9546439 PMID:9569050 PMID:9582268 PMID:9607760 PMID:9627118 PMID:9662334 PMID:9667734 PMID:9704930 PMID:9704931 PMID:9891044 PMID:10229196 PMID:10411893 PMID:10432928 PMID:10486318 PMID:10519380 PMID:10589545 PMID:10797439 PMID:10802655 PMID:10864200 PMID:10922393 PMID:11139324 PMID:11180592 PMID:11370630 PMID:11403041 PMID:11479205 PMID:11481490 PMID:11511317 PMID:11521785 PMID:11600572 PMID:11753428 PMID:11782540 PMID:12007217 PMID:12019170 PMID:12567188 PMID:12619118 PMID:12672316 PMID:12826609 PMID:12885464 PMID:12917626 PMID:14743206 PMID:15037740 PMID:15121773 PMID:15355915 PMID:15381368 PMID:15390294 PMID:15607980 PMID:15607981 PMID:15722483 PMID:15741269 PMID:15781620 PMID:15925506 PMID:15951970 PMID:15977174 PMID:16033918 PMID:16199549 PMID:16258005 PMID:16401470 PMID:16489069 PMID:16494995 PMID:16551709 PMID:16682957 PMID:16750598 PMID:16818505 PMID:16861262 PMID:16933305 PMID:16964264 PMID:16969106 PMID:17015838 PMID:17308077 PMID:17311302 PMID:17535973 PMID:17540308 PMID:17567834 PMID:17599946 PMID:17606709 PMID:17636407 PMID:17638920 PMID:17940213 PMID:18248785 PMID:18270399 PMID:18307025 PMID:18373486 PMID:18511570 PMID:18685109 PMID:18940924 PMID:19046423 PMID:19101993 PMID:19127115 PMID:19367569 PMID:19454241 PMID:19521721 PMID:19556618 PMID:19711436 PMID:19714490 PMID:19717094 PMID:19877175 PMID:19881536 PMID:20028212 PMID:20113312 PMID:20127978 PMID:20128691 PMID:20301488 PMID:20407015 PMID:20436704 PMID:20455025 PMID:20516128 PMID:20520810 PMID:20522432 PMID:20593220 PMID:20689556 PMID:20693561 PMID:20805372 PMID:21118481 PMID:21187651 PMID:21192060 PMID:21305319 PMID:21343334 PMID:21356188 PMID:21440489 PMID:21445056 PMID:21445348 PMID:21464421 PMID:21468523 PMID:21484931 PMID:21519010 PMID:21535297 PMID:21552135 PMID:21601526 PMID:21619694 PMID:21630152 PMID:21665182 PMID:21665242 PMID:21672450 PMID:21761402 PMID:21946351 PMID:22004116 PMID:22006311 PMID:22110706 PMID:22186996 PMID:22233476 PMID:22455664 PMID:22619358 PMID:22703879 PMID:22706378 PMID:22729912 PMID:22744426 PMID:22800615 PMID:22811390 PMID:22822097 PMID:22869713 PMID:22915647 PMID:22923379 PMID:23056559 PMID:23161690 PMID:23172776 PMID:23175693 PMID:23246812 PMID:23263379 PMID:23469205 PMID:23484829 PMID:23515929 PMID:23538418 PMID:23570263 PMID:23571737 PMID:23624782 PMID:23630318 PMID:23639312 PMID:23733769 PMID:23742673 PMID:23792586 PMID:23794094 PMID:23887774 PMID:23894400 PMID:24033266 PMID:24065105 PMID:24076587 PMID:24122735 PMID:24381225 PMID:24382691 PMID:24487413 PMID:24501221 PMID:24573247 PMID:24590827 PMID:24634504 PMID:24641375 PMID:24651012 PMID:24677579 PMID:24702488 PMID:24728327 PMID:24764719 PMID:24810334 PMID:24835218 PMID:24884479 PMID:24936644 PMID:25059482 PMID:25157968 PMID:25256166 PMID:25326637 PMID:25404506 PMID:25422255 PMID:25584008 PMID:25612911 PMID:25736369 PMID:25741868 PMID:25765855 PMID:25773284 PMID:25787918 PMID:25896519 PMID:25907361 PMID:25945745 PMID:25952993 PMID:26014290 PMID:26205489 PMID:26225655 PMID:26230955 PMID:26332594 PMID:26425688 PMID:26452166 PMID:26467025 PMID:26572807 PMID:26580448 PMID:26585234 PMID:26619011 PMID:26681051 PMID:26681312 PMID:26681682 PMID:26718964 PMID:26786923 PMID:26822237 PMID:26823150 PMID:26845104 PMID:26911350 PMID:26950094 PMID:27022024 PMID:27081505 PMID:27101110 PMID:27146902 PMID:27147571 PMID:27153395 PMID:27223487 PMID:27276561 PMID:27328919 PMID:27374712 PMID:27463065 PMID:27501770 PMID:27516001 PMID:27601191 PMID:27621308 PMID:27663983 PMID:27680515 PMID:27683180 PMID:27714481 PMID:27895058 PMID:27959731 PMID:27993330 PMID:28152038 PMID:28154273 PMID:28349240 PMID:28369373 PMID:28387921 PMID:28453743 PMID:28453760 PMID:28472496 PMID:28492532 PMID:28573494 PMID:28664506 PMID:28724667 PMID:28756477 PMID:28861920 PMID:28864397 PMID:28873162 PMID:28968711 PMID:28984303 PMID:29070607 PMID:29300620 PMID:29324801 PMID:29392648 PMID:29478780 PMID:29489754 PMID:29522266 PMID:29922827 PMID:29956451 PMID:29979965 PMID:30042151 PMID:30076369 PMID:30092803 PMID:30107858 PMID:30147334 PMID:30224644 PMID:30287823 PMID:30327374 PMID:30352134 PMID:30588330 PMID:30596752 PMID:30816478 PMID:30840781 PMID:30982232 PMID:31081129 PMID:31105275 PMID:31321604 PMID:31494577 PMID:31567591 PMID:31742824 PMID:31744167 PMID:31748977 PMID:31775759 PMID:31882575 PMID:31978118 PMID:31983162 PMID:32000721 PMID:32039725 PMID:32156018 PMID:32292755 PMID:32427313 PMID:32592449 PMID:32658383 PMID:32671623 PMID:32817165 PMID:32832836 PMID:32888145 PMID:32906206 PMID:32986223 PMID:33163847 PMID:33245408 PMID:33257846 PMID:33258288 PMID:33300245 PMID:33372952 PMID:33471991 PMID:33603772 PMID:33637564 PMID:33840814 PMID:34088725 PMID:34240179 PMID:34299313 PMID:34503094 PMID:34529667 PMID:34540492 PMID:34670578 PMID:34709361 PMID:34885220 PMID:35043155 PMID:35367578 PMID:35802772 PMID:35974385 PMID:36003761 PMID:36008825 PMID:36309086 PMID:36329109 PMID:36988593 PMID:9539248 PMID:10677095 More...
RGD:8547844 , RGD:8547848
NCBI chr17:7,668,421...7,687,490
Ensembl chr17:7,661,779...7,687,546
G
TRIL
TLR4 interactor with leucine rich repeats
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:36428691
NCBI chr 7:28,953,358...28,958,330
Ensembl chr 7:28,953,358...28,958,330
G
TUBA1A
tubulin alpha 1a
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:36428691
NCBI chr12:49,184,795...49,189,080
Ensembl chr12:49,184,686...49,189,324
G
TYR
tyrosinase
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:18488027
NCBI chr11:89,177,875...89,295,759
Ensembl chr11:89,177,875...89,295,759
G
UBAC2
UBA domain containing 2
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:36428691
NCBI chr13:99,200,854...99,386,504
Ensembl chr13:99,200,774...99,386,504
G
UST
uronyl 2-sulfotransferase
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:36428691
NCBI chr 6:148,747,030...149,076,990
Ensembl chr 6:148,747,030...149,076,990
G
VASH2
vasohibin 2
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:36428691
NCBI chr 1:212,950,541...212,991,585
Ensembl chr 1:212,950,520...212,992,037
G
VCAN
versican
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:36428691
NCBI chr 5:83,471,744...83,582,302
Ensembl chr 5:83,471,618...83,582,303
G
VDR
vitamin D receptor
IAGP IEP
DNA:SNPs, haplotype: :rs731236, rs7975232 (human) mRNA:increased expression:skin
RGD
PMID:22213323 PMID:15077124
RGD:8158063 , RGD:8158076
NCBI chr12:47,841,537...47,904,994
Ensembl chr12:47,841,537...47,943,048
G
VPS37D
VPS37D subunit of ESCRT-I
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:36428691
NCBI chr 7:73,665,347...73,672,110
Ensembl chr 7:73,667,831...73,672,112
G
WHR1
winged helix repair factor 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:26950094
NCBI chr 6:31,971,175...31,981,446
Ensembl chr 6:31,971,091...31,982,821
G
XPA
XPA, DNA damage recognition and repair factor
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:17687452
NCBI chr 9:97,654,398...97,697,340
Ensembl chr 9:97,674,909...97,697,340
G
XRCC3
X-ray repair cross complementing 3
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:16501254
NCBI chr14:103,697,617...103,715,451
Ensembl chr14:103,697,609...103,715,504
G
XRCC5
X-ray repair cross complementing 5
IEP
protein:increased expression:epidermal cell, basal cell of epidermis (human)
RGD
PMID:16497868
RGD:8698657
NCBI chr 2:216,109,348...216,206,293
Ensembl chr 2:216,107,464...216,206,303
G
XRCC6
X-ray repair cross complementing 6
IEP
protein:increased expression:epidermal cell, basal cell of epidermis (human)
RGD
PMID:16497868
RGD:8698657
NCBI chr22:41,621,295...41,664,041
Ensembl chr22:41,621,163...41,664,048
G
PTCH1
patched 1
IAGP
DNA:missense mutations, nonsense mutations
RGD
PMID:25395299
RGD:150523793
NCBI chr 9:95,442,980...95,516,971
Ensembl chr 9:95,442,980...95,517,057
G
PIK3CA
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha
severity
IAGP
DNA:mutations:multiple:
RGD
PMID:22522847
RGD:14402410
NCBI chr 3:179,148,126...179,240,093
Ensembl chr 3:179,148,114...179,240,093
G
KMT2D
lysine methyltransferase 2D
IAGP
ClinVar Annotator: match by term: Eccrine porocarcinoma
ClinVar
PMID:28492532
NCBI chr12:49,018,978...49,060,794
Ensembl chr12:49,018,975...49,060,794
G
MRE11
MRE11 homolog, double strand break repair nuclease
IAGP
ClinVar Annotator: match by term: Eccrine porocarcinoma
ClinVar
NCBI chr11:94,415,570...94,512,412
Ensembl chr11:94,415,570...94,493,885
G
TBX3
T-box transcription factor 3
IAGP
ClinVar Annotator: match by term: Eccrine porocarcinoma
ClinVar
NCBI chr12:114,670,255...114,684,175
Ensembl chr12:114,670,255...114,684,175
G
AGAP2
ArfGAP with GTPase domain, ankyrin repeat and PH domain 2
IAGP
ClinVar Annotator: match by term: Familial melanoma
ClinVar
PMID:28492532
NCBI chr12:57,723,761...57,742,161
Ensembl chr12:57,723,761...57,742,157
G
ARHGAP9
Rho GTPase activating protein 9
IAGP
ClinVar Annotator: match by term: Familial melanoma
ClinVar
PMID:28492532
NCBI chr12:57,472,269...57,488,824
Ensembl chr12:57,472,264...57,488,814
G
ARHGEF25
Rho guanine nucleotide exchange factor 25
IAGP
ClinVar Annotator: match by term: Familial melanoma
ClinVar
PMID:28492532
NCBI chr12:57,610,116...57,617,245
Ensembl chr12:57,610,180...57,617,245
G
B4GALNT1
beta-1,4-N-acetyl-galactosaminyltransferase 1
IAGP
ClinVar Annotator: match by term: Familial melanoma
ClinVar
PMID:28492532
NCBI chr12:57,623,409...57,633,201
Ensembl chr12:57,623,409...57,633,239
G
BAP1
BRCA1 associated deubiquitinase 1
IAGP
ClinVar Annotator: match by term: Familial melanoma
ClinVar
PMID:21874000 PMID:23684012 PMID:25741868 PMID:28492532
NCBI chr 3:52,401,008...52,410,008
Ensembl chr 3:52,401,008...52,410,008
G
BRAF
B-Raf proto-oncogene, serine/threonine kinase
IAGP
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 OMIM
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:26633545 PMID:27146152 PMID:27322245 PMID:27478040 PMID:28404629 PMID:28492532 PMID:28687512 PMID:28783719 PMID:29540830 PMID:30986545 PMID:34411415 More...
NCBI chr 7:140,713,328...140,924,929
Ensembl chr 7:140,719,327...140,924,929
G
CDK4
cyclin dependent kinase 4
IAGP
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, 1 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 ClinVar Annotator: match by term: Cutaneous Malignant Melanoma, Dominant | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 1 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 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, 3 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: 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: 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 OMIM
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: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 chr12:57,747,727...57,752,310
Ensembl chr12:57,747,727...57,756,013
G
CDKN2A
cyclin dependent kinase inhibitor 2A
IAGP
ClinVar Annotator: match by term: Familial melanoma 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: 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: Cutaneous malignant melanoma 6 | 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: 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, 2 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, 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, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 2 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: 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, 5 ClinVar Annotator: match by term: Hereditary cutaneous melanoma
ClinVar OMIM
PMID:539244 PMID:649266 PMID:865368 PMID:1038976 PMID:2319082 PMID:2677576 PMID:2813514 PMID:5001868 PMID:6307646 PMID:7566978 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: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: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:12700603 PMID:12853981 PMID:12894891 PMID:12920094 PMID:12950144 PMID:14506702 PMID:14508519 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:21610656 PMID:21614589 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: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: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: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: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: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 9:21,967,752...21,995,324
Ensembl chr 9:21,967,752...21,995,301
G
CDKN2A-AS1
CDKN2A antisense RNA 1
IAGP
ClinVar Annotator: match by term: Familial melanoma
ClinVar
PMID:28492532
NCBI chr 9:21,967,139...21,967,754
Ensembl chr 9:21,959,833...21,967,755
G
CDKN2B
cyclin dependent kinase inhibitor 2B
IAGP
ClinVar Annotator: match by term: Familial melanoma
ClinVar
PMID:9622062 PMID:28492532
NCBI chr 9:22,002,903...22,009,313
Ensembl chr 9:22,002,903...22,009,305
G
CDKN2B-AS1
CDKN2B antisense RNA 1
IAGP
ClinVar Annotator: match by term: Familial melanoma
ClinVar
PMID:9622062 PMID:28492532
NCBI chr 9:21,994,791...22,128,142
Ensembl chr 9:21,994,139...22,212,895
G
CYP27B1
cytochrome P450 family 27 subfamily B member 1
IAGP
ClinVar Annotator: match by term: Familial melanoma
ClinVar
PMID:28492532
NCBI chr12:57,762,334...57,767,078
Ensembl chr12:57,762,334...57,768,986
G
DCTN2
dynactin subunit 2
IAGP
ClinVar Annotator: match by term: Familial melanoma
ClinVar
PMID:28492532
NCBI chr12:57,530,051...57,547,192
Ensembl chr12:57,529,633...57,547,224
G
DDIT3
DNA damage inducible transcript 3
IAGP
ClinVar Annotator: match by term: Familial melanoma
ClinVar
PMID:28492532
NCBI chr12:57,516,588...57,520,517
Ensembl chr12:57,516,588...57,521,737
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DNAH1
dynein axonemal heavy chain 1
IAGP
ClinVar Annotator: match by term: Familial melanoma
ClinVar
PMID:21874000 PMID:23684012 PMID:25741868 PMID:28492532
NCBI chr 3:52,310,920...52,400,492
Ensembl chr 3:52,316,319...52,400,492
G
DTX3
deltex E3 ubiquitin ligase 3
IAGP
ClinVar Annotator: match by term: Familial melanoma
ClinVar
PMID:28492532
NCBI chr12:57,604,824...57,609,802
Ensembl chr12:57,604,622...57,609,804
G
EEF1AKMT3
EEF1A lysine methyltransferase 3
IAGP
ClinVar Annotator: match by term: Familial melanoma
ClinVar
PMID:28492532
NCBI chr12:57,772,614...57,782,541
Ensembl chr12:57,771,492...57,782,541
G
FANCA
FA complementation group A
IAGP
ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5
ClinVar
PMID:28492532
NCBI chr16:89,737,549...89,816,647
Ensembl chr16:89,726,683...89,816,977
G
GLI1
GLI family zinc finger 1
IAGP
ClinVar Annotator: match by term: Familial melanoma
ClinVar
PMID:28492532
NCBI chr12:57,459,785...57,472,268
Ensembl chr12:57,459,785...57,472,268
G
INHBC
inhibin subunit beta C
IAGP
ClinVar Annotator: match by term: Familial melanoma
ClinVar
PMID:28492532
NCBI chr12:57,434,784...57,452,062
Ensembl chr12:57,434,784...57,452,062
G
INHBE
inhibin subunit beta E
IAGP
ClinVar Annotator: match by term: Familial melanoma
ClinVar
PMID:28492532
NCBI chr12:57,455,307...57,458,025
Ensembl chr12:57,452,323...57,459,280
G
KIF5A
kinesin family member 5A
IAGP
ClinVar Annotator: match by term: Familial melanoma
ClinVar
PMID:28492532
NCBI chr12:57,550,044...57,586,633
Ensembl chr12:57,546,026...57,586,633
G
KLC1
kinesin light chain 1
IAGP
ClinVar Annotator: match by term: Cutaneous malignant melanoma 6
ClinVar
PMID:11059748 PMID:28492532
NCBI chr14:103,629,211...103,701,544
Ensembl chr14:103,561,896...103,714,249
G
LOC107988030
MITF-M promoter region
IAGP
ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 8
ClinVar
PMID:25741868
NCBI chr 3:69,934,398...69,936,727
G
LOC110806263
TERT 5' regulatory region
IAGP
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: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 9
ClinVar
PMID:20871597 PMID:22037553 PMID:23066086 PMID:23348503 PMID:23535731 PMID:25741868 PMID:26194807 PMID:26433962 PMID:28492532 PMID:31395865 More...
NCBI chr 5:1,294,628...1,298,988
G
LOC130001603
ATAC-STARR-seq lymphoblastoid silent region 19811
IAGP
ClinVar Annotator: match by term: Familial melanoma ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 2
ClinVar
PMID:7881419 PMID:8570179 PMID:8653684 PMID:8727306 PMID:9425228 PMID:9622062 PMID:9916806 PMID:10738302 PMID:11156381 PMID:14735200 PMID:15146471 PMID:16397522 PMID:16896043 PMID:17218939 PMID:17713569 PMID:18025365 PMID:18178632 PMID:18335566 PMID:18337833 PMID:18983535 PMID:19523171 PMID:20093296 PMID:21150883 PMID:21462282 PMID:21801156 PMID:22804906 PMID:24033266 PMID:25023876 PMID:25186627 PMID:25318351 PMID:25356972 PMID:25741868 PMID:25780468 PMID:25980754 PMID:26467025 PMID:26498684 PMID:26581427 PMID:26681309 PMID:26775776 PMID:27978560 PMID:28492532 PMID:28528518 PMID:28830827 PMID:29263814 PMID:31567591 PMID:36243179 PMID:36988593 More...
NCBI chr 9:21,974,815...21,974,864
G
LOC130001604
ATAC-STARR-seq lymphoblastoid silent region 19812
IAGP
ClinVar Annotator: match by term: Familial melanoma
ClinVar
PMID:9622062 PMID:15146471 PMID:28492532
NCBI chr 9:21,975,085...21,975,184
G
LOC130001605
ATAC-STARR-seq lymphoblastoid active region 28244
IAGP
ClinVar Annotator: match by term: Familial melanoma
ClinVar
PMID:9622062 PMID:15146471 PMID:28492532
NCBI chr 9:21,975,365...21,975,414
G
LOC130008148
ATAC-STARR-seq lymphoblastoid silent region 4588
IAGP
ClinVar Annotator: match by term: Familial melanoma ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3
ClinVar
PMID:9311594 PMID:9536098 PMID:10398427 PMID:11828258 PMID:14621993 PMID:16201750 PMID:17576681 PMID:19139070 PMID:19690981 PMID:19888216 PMID:22932448 PMID:24162924 PMID:25186627 PMID:25416956 PMID:25741868 PMID:25980754 PMID:26252490 PMID:26467025 PMID:26580448 PMID:26976419 PMID:28135145 PMID:28492532 PMID:29625052 PMID:29641532 PMID:31118792 PMID:31570899 PMID:34326862 More...
NCBI chr12:57,751,460...57,751,599
G
LOC130062899
ATAC-STARR-seq lymphoblastoid active region 13597
IAGP
ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 1 ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 1 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5
ClinVar
PMID:9536098 PMID:17576681 PMID:25741868 PMID:25778705 PMID:26467025 PMID:28492532 PMID:29045518 PMID:30287823 PMID:31742824 PMID:33471991 More...
NCBI chr19:1,223,046...1,223,255
G
LRP1
LDL receptor related protein 1
IAGP
ClinVar Annotator: match by term: Familial melanoma
ClinVar
PMID:28492532
NCBI chr12:57,128,483...57,213,361
Ensembl chr12:57,128,483...57,213,361
G
MARCHF9
membrane associated ring-CH-type finger 9
IAGP
ClinVar Annotator: match by term: Familial melanoma
ClinVar
PMID:28492532
NCBI chr12:57,755,103...57,760,411
Ensembl chr12:57,755,103...57,760,411
G
MARS1
methionyl-tRNA synthetase 1
IAGP
ClinVar Annotator: match by term: Familial melanoma
ClinVar
PMID:28492532
NCBI chr12:57,488,068...57,516,652
Ensembl chr12:57,475,445...57,517,569
G
MBD6
methyl-CpG binding domain protein 6
IAGP
ClinVar Annotator: match by term: Familial melanoma
ClinVar
PMID:28492532
NCBI chr12:57,520,715...57,531,545
Ensembl chr12:57,520,710...57,530,148
G
MC1R
melanocortin 1 receptor
IAGP
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 ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 ClinVar Annotator: match by term: Cutaneous malignant melanoma 5 ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 1 | 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: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 chr16:89,918,862...89,920,972
Ensembl chr16:89,912,119...89,920,973
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METTL1
methyltransferase 1, tRNA methylguanosine
IAGP
ClinVar Annotator: match by term: Familial melanoma
ClinVar
PMID:28492532
NCBI chr12:57,768,471...57,772,105
Ensembl chr12:57,768,471...57,772,119
G
MIR616
microRNA 616
IAGP
ClinVar Annotator: match by term: Familial melanoma
ClinVar
PMID:28492532
NCBI chr12:57,519,163...57,519,259
Ensembl chr12:57,519,163...57,519,259
G
MIR6759
microRNA 6759
IAGP
ClinVar Annotator: match by term: Familial melanoma ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3
ClinVar
PMID:9536098 PMID:17576681 PMID:28492532
NCBI chr12:57,748,618...57,748,682
Ensembl chr12:57,748,618...57,748,682
G
MITF
melanocyte inducing transcription factor
susceptibility
IAGP
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: 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, 5 ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: MELANOMA AND RENAL CELL CARCINOMA, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 8 ClinVar Annotator: match by term: Familial melanoma | 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 3:69,739,464...69,968,332
Ensembl chr 3:69,739,456...69,968,336
G
NDUFA4L2
NDUFA4 mitochondrial complex associated like 2
IAGP
ClinVar Annotator: match by term: Familial melanoma
ClinVar
PMID:28492532
NCBI chr12:57,234,903...57,240,762
Ensembl chr12:57,234,903...57,240,715
G
NXPH4
neurexophilin 4
IAGP
ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10
ClinVar
PMID:28492532
NCBI chr12:57,216,794...57,226,449
Ensembl chr12:57,216,794...57,226,449
G
OS9
OS9 endoplasmic reticulum lectin
IAGP
ClinVar Annotator: match by term: Familial melanoma
ClinVar
PMID:28492532
NCBI chr12:57,694,132...57,721,557
Ensembl chr12:57,693,841...57,728,342
G
PIP4K2C
phosphatidylinositol-5-phosphate 4-kinase type 2 gamma
IAGP
ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10
ClinVar
PMID:28492532
NCBI chr12:57,591,192...57,603,418
Ensembl chr12:57,591,174...57,603,418
G
POT1
protection of telomeres 1
IAGP
ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 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 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: 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, 3 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: MELANOMA AND RENAL CELL CARCINOMA, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 1 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 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: 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: 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 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: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: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 7:124,822,386...124,929,825
Ensembl chr 7:124,822,386...124,929,983
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PTEN
phosphatase and tensin homolog
IAGP
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 chr10:87,863,625...87,971,930
Ensembl chr10:87,862,638...87,971,930
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R3HDM2
R3H domain containing 2
IAGP
ClinVar Annotator: match by term: Familial melanoma
ClinVar
PMID:28492532
NCBI chr12:57,253,764...57,431,141
Ensembl chr12:57,253,762...57,431,043
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SHMT2
serine hydroxymethyltransferase 2
IAGP
ClinVar Annotator: match by term: Familial melanoma
ClinVar
PMID:28492532
NCBI chr12:57,229,711...57,234,935
Ensembl chr12:57,229,573...57,234,935
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SPIRE2
spire type actin nucleation factor 2
IAGP
ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5
ClinVar
PMID:28492532
NCBI chr16:89,828,475...89,871,319
Ensembl chr16:89,818,179...89,871,319
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STAC3
SH3 and cysteine rich domain 3
IAGP
ClinVar Annotator: match by term: Familial melanoma
ClinVar
PMID:28492532
NCBI chr12:57,243,458...57,251,187
Ensembl chr12:57,243,453...57,251,188
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STK11
serine/threonine kinase 11
IAGP
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 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: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...
NCBI chr19:1,205,778...1,228,431
Ensembl chr19:1,177,558...1,228,431
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TCF25
TCF25 ribosome quality control complex subunit
IAGP
ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5
ClinVar
PMID:28492532
NCBI chr16:89,873,592...89,911,379
Ensembl chr16:89,873,570...89,913,627
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TERT
telomerase reverse transcriptase
IAGP
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: 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
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:29036293 PMID:29483670 PMID:31395865 PMID:35776903 More...
NCBI chr 5:1,253,167...1,295,068
Ensembl chr 5:1,253,147...1,295,068
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TP53
tumor protein p53
IAGP
ClinVar Annotator: match by term: Familial melanoma
ClinVar
PMID:12826609 PMID:25741868 PMID:28492532 PMID:29979965 PMID:30224644
NCBI chr17:7,668,421...7,687,490
Ensembl chr17:7,661,779...7,687,546
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TSFM
Ts translation elongation factor, mitochondrial
IAGP
ClinVar Annotator: match by term: Familial melanoma
ClinVar
PMID:28492532
NCBI chr12:57,782,787...57,802,856
Ensembl chr12:57,782,761...57,808,071
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TSPAN31
tetraspanin 31
IAGP
ClinVar Annotator: match by term: Familial melanoma ClinVar Annotator: match by term: Cutaneous Malignant Melanoma, Dominant | ClinVar Annotator: match by term: MELANOMA AND RENAL CELL CARCINOMA, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 ClinVar Annotator: match by term: Cutaneous Malignant Melanoma, Dominant | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 1 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 ClinVar Annotator: match by term: Cutaneous malignant melanoma 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, 10 | 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 chr12:57,745,039...57,750,219
Ensembl chr12:57,738,013...57,750,219
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TYR
tyrosinase
IAGP
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 chr11:89,177,875...89,295,759
Ensembl chr11:89,177,875...89,295,759
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XRCC3
X-ray repair cross complementing 3
IAGP
ClinVar Annotator: match by term: Cutaneous malignant melanoma 6
ClinVar OMIM
PMID:11059748 PMID:28492532
NCBI chr14:103,697,617...103,715,451
Ensembl chr14:103,697,609...103,715,504
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LOC130002223
ATAC-STARR-seq lymphoblastoid silent region 20124
IAGP
ClinVar Annotator: match by term: Ferguson-Smith type epithelioma
ClinVar
PMID:25741868
NCBI chr 9:99,104,641...99,105,240
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TGFBR1
transforming growth factor beta receptor 1
EXP IAGP
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Multiple self-healing squamous epithelioma ClinVar Annotator: match by term: Ferguson-Smith type epithelioma | ClinVar Annotator: match by term: Multiple self-healing squamous epithelioma
CTD OMIM ClinVar
PMID:2511639 PMID:2647812 PMID:5173258 PMID:8499949 PMID:16596670 PMID:16791849 PMID:16928994 PMID:18781618 PMID:19542084 PMID:21267002 PMID:21358634 PMID:22414221 PMID:23358096 PMID:23884466 PMID:24033266 PMID:24055113 PMID:24793577 PMID:25110237 PMID:25116393 PMID:25504618 PMID:25521989 PMID:25637381 PMID:25715477 PMID:25741868 PMID:25834947 PMID:25907466 PMID:25944730 PMID:25985138 PMID:26848186 PMID:26877057 PMID:27146836 PMID:27153395 PMID:27611364 PMID:27647783 PMID:27879313 PMID:28209770 PMID:28492532 PMID:28550590 PMID:28655553 PMID:28659821 PMID:29706644 PMID:29907982 PMID:31915033 PMID:33256177 PMID:33824467 PMID:36937954 More...
NCBI chr 9:99,103,647...99,154,192
Ensembl chr 9:99,104,038...99,154,192
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NOTCH1
notch receptor 1
IAGP
ClinVar Annotator: match by term: Keratoacanthoma
ClinVar
PMID:27283355
NCBI chr 9:136,494,433...136,546,048
Ensembl chr 9:136,494,433...136,546,048
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NOTCH2
notch receptor 2
IAGP
ClinVar Annotator: match by term: Keratoacanthoma
ClinVar
PMID:27283355
NCBI chr 1:119,911,553...120,069,662
Ensembl chr 1:119,911,553...120,100,779
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PIK3CA
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha
IAGP
ClinVar Annotator: match by term: Keratoacanthoma
ClinVar
PMID:22949682 PMID:23246288 PMID:25741868 PMID:27283355 PMID:28151489 PMID:28492532 More...
NCBI chr 3:179,148,126...179,240,093
Ensembl chr 3:179,148,114...179,240,093
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CD68
CD68 molecule
IEP
protein:increased expression:tumor (human)
RGD
PMID:22050913
RGD:40925916
NCBI chr17:7,579,638...7,582,111
Ensembl chr17:7,579,491...7,582,111
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FGFR3
fibroblast growth factor receptor 3
IEP
mRNA:decreased expression:skin (human)
RGD
PMID:28359267
RGD:38500206
NCBI chr 4:1,793,293...1,808,867
Ensembl chr 4:1,793,293...1,808,872
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MYC
MYC proto-oncogene, bHLH transcription factor
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:25277525
NCBI chr 8:127,735,434...127,742,951
Ensembl chr 8:127,735,434...127,742,951
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SPA17
sperm autoantigenic protein 17
IEP
mRNA,protein:increased expression:nucleus
RGD
PMID:31218705
RGD:27226803
NCBI chr11:124,673,904...124,697,518
Ensembl chr11:124,673,844...124,697,518
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CCNH
cyclin H
IAGP
ClinVar Annotator: match by term: Basal cell carcinoma, multiple
ClinVar
PMID:24038909 PMID:25741868 PMID:28492532
NCBI chr 5:87,311,471...87,412,930
Ensembl chr 5:87,318,416...87,413,029
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LOC100507346
uncharacterized LOC100507346
IAGP
ClinVar Annotator: match by term: Basal cell carcinoma, multiple
ClinVar
PMID:25741868 PMID:26467025 PMID:28492532
NCBI chr 9:95,463,609...95,470,019
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LOC130002133
ATAC-STARR-seq lymphoblastoid silent region 20071
IAGP
ClinVar Annotator: match by term: Basal cell carcinoma, multiple
ClinVar
PMID:25741868 PMID:26467025 PMID:28492532 PMID:30093976
NCBI chr 9:95,508,202...95,508,521
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PTCH1
patched 1
IAGP
ClinVar Annotator: match by term: Basal cell carcinoma, multiple
ClinVar
PMID:22703879 PMID:24728327 PMID:25637381 PMID:25741868 PMID:26467025 PMID:28492532 PMID:28495808 PMID:30093976 More...
NCBI chr 9:95,442,980...95,516,971
Ensembl chr 9:95,442,980...95,517,057
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PTCH2
patched 2
IAGP
ClinVar Annotator: match by term: Basal cell carcinoma, multiple
ClinVar
PMID:25741868 PMID:28492532 PMID:31945512
NCBI chr 1:44,819,845...44,843,253
Ensembl chr 1:44,819,154...44,843,253
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RASA1
RAS p21 protein activator 1
IAGP
ClinVar Annotator: match by term: Basal cell carcinoma, multiple
ClinVar
PMID:22200646 PMID:23801933 PMID:24038909 PMID:25741868 PMID:28492532
NCBI chr 5:87,267,883...87,391,916
Ensembl chr 5:87,267,883...87,391,931
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SMO
smoothened, frizzled class receptor
IAGP
ClinVar Annotator: match by term: Basal cell carcinoma, multiple
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 7:129,188,633...129,213,545
Ensembl chr 7:129,188,633...129,213,545
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NLRP1
NLR family pyrin domain containing 1
IAGP
ClinVar Annotator: match by term: Palmoplantar carcinoma, multiple self-healing
ClinVar OMIM
PMID:16199547 PMID:17377159 PMID:23349227 PMID:24033266 PMID:25050600 PMID:25741868 PMID:27662089 PMID:28492532 More...
NCBI chr17:5,501,396...5,584,509
Ensembl chr17:5,499,415...5,619,424
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AOPEP
aminopeptidase O (putative)
IAGP
ClinVar Annotator: match by term: Gorlin syndrome
ClinVar
PMID:17703323 PMID:17924555 PMID:22382802 PMID:28492532
NCBI chr 9:94,726,699...95,150,224
Ensembl chr 9:94,726,604...95,151,793
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ARL3
ARF like GTPase 3
IAGP
ClinVar Annotator: match by term: Gorlin syndrome
ClinVar
PMID:12068298 PMID:22508808 PMID:25403219 PMID:28492532 PMID:31639285
NCBI chr10:102,673,731...102,714,397
Ensembl chr10:102,673,731...102,714,397
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CYP17A1
cytochrome P450 family 17 subfamily A member 1
IAGP
ClinVar Annotator: match by term: Gorlin syndrome
ClinVar
PMID:12068298 PMID:22508808 PMID:25403219 PMID:28492532 PMID:31639285
NCBI chr10:102,830,531...102,837,413
Ensembl chr10:102,830,531...102,837,472
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FANCC
FA complementation group C
IAGP
ClinVar Annotator: match by term: Gorlin syndrome
ClinVar
PMID:16301862 PMID:16419085 PMID:17703323 PMID:17924555 PMID:22382802 PMID:28492532 More...
NCBI chr 9:95,099,054...95,317,709
Ensembl chr 9:95,099,054...95,426,796
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GLI1
GLI family zinc finger 1
IEP
RGD
PMID:15308259
RGD:12801443
NCBI chr12:57,459,785...57,472,268
Ensembl chr12:57,459,785...57,472,268
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GLI2
GLI family zinc finger 2
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:16936257
NCBI chr 2:120,735,868...120,992,653
Ensembl chr 2:120,735,623...120,992,653
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LOC100507346
uncharacterized LOC100507346
IAGP
ClinVar Annotator: match by term: Gorlin syndrome ClinVar Annotator: match by term: Basal cell nevus syndrome | ClinVar Annotator: match by term: Gorlin syndrome ClinVar Annotator: match by term: MULTIPLE BASAL CELL NEVI, ODONTOGENIC KERATOCYSTS, AND SKELETAL ANOMALIES
ClinVar
PMID:1850296 PMID:8658145 PMID:8681379 PMID:8981943 PMID:9536098 PMID:10200051 PMID:11941477 PMID:12204003 PMID:12925203 PMID:15565302 PMID:16088933 PMID:16199547 PMID:16301862 PMID:16419085 PMID:16906569 PMID:16909134 PMID:17096318 PMID:17349603 PMID:17576681 PMID:17703323 PMID:17924555 PMID:18302678 PMID:18502968 PMID:19557015 PMID:19618880 PMID:20301330 PMID:20485063 PMID:20690502 PMID:21188540 PMID:22313357 PMID:22382802 PMID:22703879 PMID:22952776 PMID:22995991 PMID:23951062 PMID:24204797 PMID:24368541 PMID:24728327 PMID:24807215 PMID:24814739 PMID:25131638 PMID:25637381 PMID:25741868 PMID:25938944 PMID:26467025 PMID:26544948 PMID:26580448 PMID:27153395 PMID:27561271 PMID:28342698 PMID:28492532 PMID:28627087 PMID:28733979 PMID:28873162 PMID:29212164 PMID:29277811 PMID:29575684 PMID:29992659 PMID:30032850 PMID:30093976 PMID:31180159 PMID:31613886 PMID:32251017 PMID:32321774 PMID:32906206 PMID:33209614 PMID:33441926 More...
NCBI chr 9:95,463,609...95,470,019
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LOC105376156
uncharacterized LOC105376156
IAGP
ClinVar Annotator: match by term: Gorlin syndrome
ClinVar
PMID:17703323 PMID:17924555 PMID:22382802 PMID:28492532
NCBI chr 9:95,386,495...95,426,830
Ensembl chr 9:95,099,054...95,426,796
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LOC110121043
VISTA enhancer hs1258
IAGP
ClinVar Annotator: match by term: Gorlin syndrome
ClinVar
PMID:16301862 PMID:16419085 PMID:17703323 PMID:17924555 PMID:19557015 PMID:22382802 PMID:28492532 PMID:29575684 More...
NCBI chr 9:95,495,577...95,497,123
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LOC124310595
Sharpr-MPRA regulatory region 10736
IAGP
ClinVar Annotator: match by term: Gorlin syndrome
ClinVar
PMID:17703323 PMID:17924555 PMID:22382802 PMID:28492532
NCBI chr 9:95,129,927...95,130,221
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LOC124310596
Sharpr-MPRA regulatory region 8238
IAGP
ClinVar Annotator: match by term: Gorlin syndrome
ClinVar
PMID:17703323 PMID:17924555 PMID:22382802 PMID:28492532
NCBI chr 9:95,131,367...95,131,661
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LOC124310597
Sharpr-MPRA regulatory region 1665
IAGP
ClinVar Annotator: match by term: Gorlin syndrome
ClinVar
PMID:17703323 PMID:17924555 PMID:22382802 PMID:28492532
NCBI chr 9:95,193,107...95,193,401
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LOC124310598
Sharpr-MPRA regulatory region 1693
IAGP
ClinVar Annotator: match by term: Gorlin syndrome
ClinVar
PMID:17703323 PMID:17924555 PMID:22382802 PMID:28492532
NCBI chr 9:95,268,727...95,269,021
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LOC124310599
Sharpr-MPRA regulatory region 1060
IAGP
ClinVar Annotator: match by term: Gorlin syndrome
ClinVar
PMID:17703323 PMID:17924555 PMID:22382802 PMID:28492532
NCBI chr 9:95,366,807...95,367,101
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LOC124310600
H3K4me1 hESC enhancer GRCh37_chr9:98173918-98174537
IAGP
ClinVar Annotator: match by term: Gorlin syndrome
ClinVar
PMID:17703323 PMID:17924555 PMID:22382802 PMID:28492532
NCBI chr 9:95,411,636...95,412,255
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LOC124416895
Sharpr-MPRA regulatory region 236
IAGP
ClinVar Annotator: match by term: Gorlin syndrome
ClinVar
PMID:22508808 PMID:25403219 PMID:28492532
NCBI chr10:102,504,572...102,504,866
G
LOC130002126
ATAC-STARR-seq lymphoblastoid silent region 20063
IAGP
ClinVar Annotator: match by term: Gorlin syndrome
ClinVar
PMID:17703323 PMID:17924555 PMID:22382802 PMID:28492532
NCBI chr 9:95,116,447...95,116,526
G
LOC130002127
ATAC-STARR-seq lymphoblastoid active region 28637
IAGP
ClinVar Annotator: match by term: Gorlin syndrome
ClinVar
PMID:17703323 PMID:17924555 PMID:22382802 PMID:28492532
NCBI chr 9:95,313,167...95,313,226
G
LOC130002128
ATAC-STARR-seq lymphoblastoid silent region 20064
IAGP
ClinVar Annotator: match by term: Gorlin syndrome
ClinVar
PMID:17703323 PMID:17924555 PMID:22382802 PMID:28492532
NCBI chr 9:95,317,061...95,317,380
G
LOC130002129
ATAC-STARR-seq lymphoblastoid silent region 20065
IAGP
ClinVar Annotator: match by term: Gorlin syndrome
ClinVar
PMID:17703323 PMID:17924555 PMID:22382802 PMID:28492532
NCBI chr 9:95,426,698...95,427,087
G
LOC130002130
ATAC-STARR-seq lymphoblastoid silent region 20067
IAGP
ClinVar Annotator: match by term: Gorlin syndrome
ClinVar
PMID:16301862 PMID:16419085 PMID:17703323 PMID:17924555 PMID:19557015 PMID:22382802 PMID:28492532 PMID:29575684 More...
NCBI chr 9:95,505,892...95,505,951
G
LOC130002131
ATAC-STARR-seq lymphoblastoid silent region 20068
IAGP
ClinVar Annotator: match by term: Gorlin syndrome
ClinVar
PMID:16301862 PMID:16419085 PMID:17703323 PMID:17924555 PMID:19557015 PMID:22382802 PMID:28492532 PMID:29575684 More...
NCBI chr 9:95,506,112...95,506,171
G
LOC130002132
ATAC-STARR-seq lymphoblastoid silent region 20069
IAGP
ClinVar Annotator: match by term: Gorlin syndrome
ClinVar
PMID:9536098 PMID:16301862 PMID:16419085 PMID:17576681 PMID:17703323 PMID:17924555 PMID:19557015 PMID:22382802 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29575684 More...
NCBI chr 9:95,506,602...95,506,841
G
LOC130002133
ATAC-STARR-seq lymphoblastoid silent region 20071
IAGP
ClinVar Annotator: match by term: Gorlin syndrome ClinVar Annotator: match by term: Basal cell nevus syndrome | ClinVar Annotator: match by term: Gorlin syndrome
ClinVar
PMID:16301862 PMID:16419085 PMID:17703323 PMID:17924555 PMID:19557015 PMID:22382802 PMID:24728327 PMID:25637381 PMID:25741868 PMID:26467025 PMID:27993330 PMID:28492532 PMID:29230040 PMID:29575684 PMID:30093976 PMID:33466296 PMID:34831015 More...
NCBI chr 9:95,508,202...95,508,521
G
LOC130004614
ATAC-STARR-seq lymphoblastoid silent region 2764
IAGP
ClinVar Annotator: match by term: Gorlin syndrome ClinVar Annotator: match by term: Basal cell nevus syndrome | ClinVar Annotator: match by term: Gorlin syndrome
ClinVar
PMID:19833601 PMID:22508808 PMID:25403219 PMID:25741868 PMID:26467025 PMID:28492532 PMID:28873162 PMID:29186568 PMID:29489754 PMID:29641532 PMID:29753700 PMID:33024317 PMID:34675124 PMID:35768194 PMID:36825822 More...
NCBI chr10:102,503,788...102,504,257
G
LOC130004615
ATAC-STARR-seq lymphoblastoid active region 3939
IAGP
ClinVar Annotator: match by term: Gorlin syndrome
ClinVar
PMID:22508808 PMID:25403219 PMID:28492532
NCBI chr10:102,512,167...102,512,306
G
LOC130004616
ATAC-STARR-seq lymphoblastoid active region 3940
IAGP
ClinVar Annotator: match by term: Gorlin syndrome
ClinVar
PMID:22508808 PMID:25403219 PMID:28492532
NCBI chr10:102,537,177...102,537,336
G
LOC132089731
Neanderthal introgressed variant-containing enhancer experimental_110513
IAGP
ClinVar Annotator: match by term: Gorlin syndrome
ClinVar
PMID:17703323 PMID:17924555 PMID:22382802 PMID:28492532
NCBI chr 9:95,178,246...95,178,415
G
LOC132089732
Neanderthal introgressed variant-containing enhancer experimental_110548
IAGP
ClinVar Annotator: match by term: Gorlin syndrome
ClinVar
PMID:17703323 PMID:17924555 PMID:22382802 PMID:28492532
NCBI chr 9:95,241,261...95,241,430
G
LOC132089733
Neanderthal introgressed variant-containing enhancer experimental_110630
IAGP
ClinVar Annotator: match by term: Gorlin syndrome
ClinVar
PMID:17703323 PMID:17924555 PMID:22382802 PMID:28492532
NCBI chr 9:95,410,157...95,410,326
G
PTCH1
patched 1
IAGP ISS EXP ISO IEP
DNA:mutations:exon, intron:multiple ClinVar Annotator: match by term: Gorlin syndrome ClinVar Annotator: match by term: Basal cell nevus syndrome | ClinVar Annotator: match by term: Gorlin syndrome ClinVar Annotator: match by term: MULTIPLE BASAL CELL NEVI, ODONTOGENIC KERATOCYSTS, AND SKELETAL ANOMALIES CTD Direct Evidence: marker/mechanism DNA: splice-site mutation :exon DNA: nonsense mutation:exon:p.W399* (human) DNA:missense mutation:exon:p.E237EK (897G>A) (human)
ClinVar MouseDO CTD RGD
PMID:1347096 PMID:1850296 PMID:8302318 PMID:8658145 PMID:8681379 PMID:8840969 PMID:8981943 PMID:9096761 PMID:9231911 PMID:9341860 PMID:9415689 PMID:9463336 PMID:9536098 PMID:9620294 PMID:10048928 PMID:10200051 PMID:10564585 PMID:10890722 PMID:11231326 PMID:11387302 PMID:11457640 PMID:11941477 PMID:12192414 PMID:12204003 PMID:12655573 PMID:12879481 PMID:12900905 PMID:12925203 PMID:15042702 PMID:15290653 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:16906569 PMID:16909134 PMID:16929110 PMID:16931872 PMID:16936257 PMID:17001668 PMID:17021131 PMID:17096318 PMID:17328283 PMID:17349603 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:19362041 PMID:19521425 PMID:19557015 PMID:19618880 PMID:20068110 PMID:20301330 PMID:20485063 PMID:20690502 PMID:21188540 PMID:21368767 PMID:21490102 PMID:21514272 PMID:21520333 PMID:21567912 PMID:22193408 PMID:22221699 PMID:22313357 PMID:22382802 PMID:22434048 PMID:22572734 PMID:22675565 PMID:22703879 PMID:22820256 PMID:22829011 PMID:22844361 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:24369017 PMID:24529220 PMID:24651015 PMID:24668667 PMID:24728327 PMID:24807215 PMID:24814739 PMID:24816767 PMID:24942795 PMID:25117323 PMID:25131638 PMID:25326635 PMID:25403219 PMID:25525159 PMID:25559776 PMID:25567908 PMID:25637381 PMID:25640679 PMID:25727044 PMID:25741868 PMID:25876211 PMID:25938944 PMID:26356331 PMID:26467025 PMID:26489027 PMID:26544948 PMID:26559152 PMID:26580448 PMID:26604511 PMID:26802149 PMID:26893459 PMID:26997948 PMID:27028851 PMID:27153395 PMID:27535533 PMID:27561271 PMID:27793025 PMID:27930734 PMID:27993330 PMID:28252636 PMID:28342698 PMID:28492532 PMID:28495808 PMID:28596197 PMID:28627087 PMID:28690523 PMID:28733979 PMID:28873162 PMID:29146900 PMID:29205322 PMID:29212164 PMID:29230040 PMID:29277811 PMID:29381605 PMID:29498494 PMID:29575684 PMID:29641532 PMID:29654263 PMID:29753700 PMID:29983323 PMID:29992659 PMID:30032850 PMID:30093976 PMID:30102335 PMID:30166346 PMID:30256826 PMID:30262796 PMID:30368514 PMID:30411536 PMID:30584090 PMID:30666157 PMID:30754660 PMID:30762128 PMID:30936464 PMID:30997576 PMID:31127104 PMID:31180159 PMID:31437519 PMID:31548691 PMID:31613886 PMID:31639285 PMID:31644632 PMID:31645765 PMID:31655866 PMID:31837199 PMID:31911633 PMID:32074614 PMID:32238911 PMID:32251017 PMID:32311334 PMID:32321774 PMID:32409749 PMID:32741058 PMID:32906206 PMID:33077954 PMID:33179747 PMID:33209614 PMID:33270637 PMID:33332384 PMID:33418956 PMID:33441926 PMID:33466296 PMID:33609447 PMID:33674644 PMID:33729574 PMID:33807452 PMID:34008892 PMID:34194672 PMID:34426522 PMID:34831015 PMID:35170016 PMID:35181726 PMID:35437209 PMID:36693175 PMID:12925203 PMID:23897749 PMID:19557015 PMID:15308259 PMID:21514272 More...
RGD:12798568 , RGD:13207424 , RGD:13207421 , RGD:12801443 , RGD:12801422
NCBI chr 9:95,442,980...95,516,971
Ensembl chr 9:95,442,980...95,517,057
G
PTCH2
patched 2
IAGP
ClinVar Annotator: match by term: Gorlin syndrome ClinVar Annotator: match by term: Basal cell nevus syndrome | ClinVar Annotator: match by term: Gorlin syndrome
ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:18285427 PMID:23951062 PMID:25260786 PMID:25741868 PMID:28492532 PMID:28915250 PMID:31945512 PMID:32864857 PMID:33077954 More...
NCBI chr 1:44,819,845...44,843,253
Ensembl chr 1:44,819,154...44,843,253
G
PTH
parathyroid hormone
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:24803734
NCBI chr11:13,492,054...13,496,181
Ensembl chr11:13,492,054...13,496,181
G
SFXN2
sideroflexin 2
IAGP
ClinVar Annotator: match by term: Gorlin syndrome
ClinVar
PMID:12068298 PMID:22508808 PMID:25403219 PMID:28492532 PMID:31639285
NCBI chr10:102,714,636...102,743,492
Ensembl chr10:102,714,538...102,743,492
G
SHH
sonic hedgehog signaling molecule
ISO ISS
MouseDO RGD
PMID:9115210
RGD:12802345
NCBI chr 7:155,799,980...155,812,463
Ensembl chr 7:155,799,980...155,812,463
G
SMO
smoothened, frizzled class receptor
IEP
RGD
PMID:15308259
RGD:12801443
NCBI chr 7:129,188,633...129,213,545
Ensembl chr 7:129,188,633...129,213,545
G
SUFU
SUFU negative regulator of hedgehog signaling
IAGP ISS
ClinVar Annotator: match by term: Gorlin syndrome ClinVar Annotator: match by term: Basal cell nevus syndrome | ClinVar Annotator: match by term: Gorlin syndrome OMIM:109400
ClinVar MouseDO
PMID:9536098 PMID:12068298 PMID:16199547 PMID:17102621 PMID:17576681 PMID:19533801 PMID:19833601 PMID:21188540 PMID:22508808 PMID:23265383 PMID:23826113 PMID:24651015 PMID:24728327 PMID:25287320 PMID:25403219 PMID:25640679 PMID:25741868 PMID:26467025 PMID:26580448 PMID:26677030 PMID:27363716 PMID:27793025 PMID:27930734 PMID:28050010 PMID:28492532 PMID:28717660 PMID:28873162 PMID:28965847 PMID:29186568 PMID:29356994 PMID:29489754 PMID:29641532 PMID:29654263 PMID:29753700 PMID:30256826 PMID:31639285 PMID:31781912 PMID:32295625 PMID:33024317 PMID:34056767 PMID:34589056 PMID:34675124 PMID:35768194 PMID:36825822 More...
NCBI chr10:102,502,819...102,633,535
Ensembl chr10:102,503,972...102,633,535
G
TRIM8
tripartite motif containing 8
IAGP
ClinVar Annotator: match by term: Gorlin syndrome
ClinVar
PMID:12068298 PMID:22508808 PMID:25403219 PMID:28492532 PMID:31639285
NCBI chr10:102,644,479...102,658,319
Ensembl chr10:102,642,503...102,662,789
G
WBP1L
WW domain binding protein 1 like
IAGP
ClinVar Annotator: match by term: Gorlin syndrome
ClinVar
PMID:12068298 PMID:22508808 PMID:25403219 PMID:28492532 PMID:31639285
NCBI chr10:102,743,948...102,816,262
Ensembl chr10:102,743,948...102,834,516
G
LOC100507346
uncharacterized LOC100507346
IAGP
ClinVar Annotator: match by term: Basal cell nevus syndrome 1
ClinVar
PMID:8658145 PMID:8681379 PMID:16301862 PMID:16419085 PMID:24814739 PMID:25741868 PMID:28492532 More...
NCBI chr 9:95,463,609...95,470,019
G
LOC130002133
ATAC-STARR-seq lymphoblastoid silent region 20071
IAGP
ClinVar Annotator: match by term: Basal cell nevus syndrome 1
ClinVar
PMID:28492532
NCBI chr 9:95,508,202...95,508,521
G
PTCH1
patched 1
IAGP
DNA:mutations:multiple ClinVar Annotator: match by term: Basal cell nevus syndrome 1
ClinVar OMIM RGD
PMID:8658145 PMID:8681379 PMID:12900905 PMID:16199547 PMID:16301862 PMID:16419085 PMID:18477452 PMID:18502968 PMID:18830227 PMID:19213655 PMID:20301330 PMID:22572734 PMID:24204797 PMID:24814739 PMID:25741868 PMID:27153395 PMID:28492532 PMID:29575684 PMID:30411536 PMID:8681379 More...
RGD:407424595
NCBI chr 9:95,442,980...95,516,971
Ensembl chr 9:95,442,980...95,517,057
G
PTCH2
patched 2
IAGP
ClinVar Annotator: match by term: Basal cell nevus syndrome 1
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 1:44,819,845...44,843,253
Ensembl chr 1:44,819,154...44,843,253
G
LOC130004614
ATAC-STARR-seq lymphoblastoid silent region 2764
IAGP
ClinVar Annotator: match by term: Basal cell nevus syndrome 2
ClinVar
PMID:19833601 PMID:22508808 PMID:25403219 PMID:28492532 PMID:29186568 PMID:29753700 PMID:33024317 PMID:34675124 PMID:35768194 PMID:36825822 More...
NCBI chr10:102,503,788...102,504,257
G
SUFU
SUFU negative regulator of hedgehog signaling
IAGP
ClinVar Annotator: match by term: NEVOID BASAL CELL CARCINOMA SYNDROME 2 ClinVar Annotator: match by term: Basal cell nevus syndrome 2
ClinVar OMIM
PMID:12068298 PMID:19533801 PMID:19833601 PMID:21188540 PMID:22508808 PMID:25403219 PMID:25741868 PMID:28492532 PMID:29186568 PMID:29753700 PMID:33024317 PMID:34675124 PMID:35768194 PMID:36825822 More...
NCBI chr10:102,502,819...102,633,535
Ensembl chr10:102,503,972...102,633,535
G
AFF4
ALF transcription elongation factor 4
disease_progression
IEP
RGD
PMID:33417923
RGD:155631266
NCBI chr 5:132,875,395...132,963,634
Ensembl chr 5:132,875,395...132,963,634
G
AGT
angiotensinogen
IEP
protein:increased expression:serum
RGD
PMID:19394758
RGD:8548874
NCBI chr 1:230,702,523...230,745,583
Ensembl chr 1:230,690,776...230,745,576
G
ARHGAP44
Rho GTPase activating protein 44
severity
IAGP
DNA:SNP:intron: (rs72635537) (human)
RGD
PMID:28510328
RGD:401901274
NCBI chr17:12,789,498...12,991,643
Ensembl chr17:12,789,498...12,991,643
G
BAP1
BRCA1 associated deubiquitinase 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:25231345 PMID:26719535
NCBI chr 3:52,401,008...52,410,008
Ensembl chr 3:52,401,008...52,410,008
G
BIRC2
baculoviral IAP repeat containing 2
exacerbates
HEP
mRNA:increased expression:zone of skin (human)
RGD
PMID:31964418
RGD:153344516
NCBI chr11:102,347,214...102,378,670
Ensembl chr11:102,347,211...102,378,670
G
BRAF
B-Raf proto-oncogene, serine/threonine kinase
IAGP EXP
ClinVar Annotator: match by term: Malignant melanoma of skin ClinVar Annotator: match by term: DYSPLASTIC NEVUS SYNDROME, HEREDITARY CTD Direct Evidence: marker/mechanism
ClinVar CTD
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:24446311 PMID:24524299 PMID:24719372 PMID:24775816 PMID:25035421 PMID:25157968 PMID:25741868 PMID:26242988 PMID:26472072 PMID:26619011 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 7:140,713,328...140,924,929
Ensembl chr 7:140,719,327...140,924,929
G
BRCA2
BRCA2 DNA repair associated
disease_progression
IAGP
DNA:SNP: :rs206118, rs3752447, rs10492396 (human)
RGD
PMID:25243787
RGD:11344896
NCBI chr13:32,315,077...32,400,268
Ensembl chr13:32,315,086...32,400,268
G
CCL2
C-C motif chemokine ligand 2
disease_progression
IAGP
DNA:SNP: :2578A>G (human)
RGD
PMID:17169533
RGD:9491398
NCBI chr17:34,255,285...34,257,203
Ensembl chr17:34,255,274...34,257,208
G
CD40
CD40 molecule
disease_progression
IEP
RGD
PMID:8952530
RGD:8547772
NCBI chr20:46,118,314...46,129,858
Ensembl chr20:46,118,271...46,129,863
G
CDK4
cyclin dependent kinase 4
IAGP EXP
ClinVar Annotator: match by term: Cutaneous melanoma CTD Direct Evidence: marker/mechanism
ClinVar CTD
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 chr12:57,747,727...57,752,310
Ensembl chr12:57,747,727...57,756,013
G
CDKN2A
cyclin dependent kinase inhibitor 2A
IAGP EXP
DNA:frameshift mutations, deletions:cds:multiple (human) CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Cutaneous melanoma DNA:missense mutation:exon:p.P48L (human)
CTD ClinVar RGD
PMID:22080950 PMID:26619011 PMID:20653773 PMID:10338331
RGD:8552276 , RGD:8552302
NCBI chr 9:21,967,752...21,995,324
Ensembl chr 9:21,967,752...21,995,301
G
CHAF1B
chromatin assembly factor 1 subunit B
severity
IEP
protein:increased expression:skin:
RGD
PMID:20178651
RGD:9587476
NCBI chr21:36,385,392...36,419,015
Ensembl chr21:36,385,392...36,419,015
G
CNR1
cannabinoid receptor 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28131817
NCBI chr 6:88,139,864...88,167,349
Ensembl chr 6:88,139,864...88,166,347
G
CREB1
cAMP responsive element binding protein 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:29179997
NCBI chr 2:207,529,962...207,605,988
Ensembl chr 2:207,529,737...207,605,988
G
CTCF
CCCTC-binding factor
IAGP
DNA:mutations:multiple (human)
RGD
PMID:27974201
RGD:151356739
NCBI chr16:67,562,526...67,639,185
Ensembl chr16:67,562,467...67,639,177
G
CTNNB1
catenin beta 1
IAGP
ClinVar Annotator: match by term: Cutaneous melanoma
ClinVar
PMID:10192393 PMID:25741868 PMID:26619011
NCBI chr 3:41,199,505...41,240,443
Ensembl chr 3:41,194,741...41,260,096
G
DDR1
discoidin domain receptor tyrosine kinase 1
severity treatment
IEP IMP
protein:increased expression:skin lesion (human) human cells in mouse model; DDR1-IN-1
RGD
PMID:31271515 PMID:31271515
RGD:151347864 , RGD:151347864
NCBI chr 6:30,880,970...30,900,156
Ensembl chr 6:30,876,421...30,900,156
G
DNMT3B
DNA methyltransferase 3 beta
disease_progression
IEP
RGD
PMID:21081840
RGD:9589074
NCBI chr20:32,762,385...32,809,356
Ensembl chr20:32,762,385...32,809,359
G
EML1
EMAP like 1
disease_progression
IAGP
DNA:SNP: :rs10151787 (A>G)
RGD
PMID:34249459
RGD:597538489
NCBI chr14:99,737,722...99,942,060
Ensembl chr14:99,737,693...99,942,060
G
FANCA
FA complementation group A
disease_progression
IAGP
DNA:SNP: :rs62068372 (human)
RGD
PMID:25243787
RGD:11344896
NCBI chr16:89,737,549...89,816,647
Ensembl chr16:89,726,683...89,816,977
G
FANCD2
FA complementation group D2
IEP
mRNA,protein:increased expression:skin,nucleus:
RGD
PMID:21697891
RGD:11046262
NCBI chr 3:10,026,437...10,101,932
Ensembl chr 3:10,026,370...10,101,932
G
FBXW7
F-box and WD repeat domain containing 7
IAGP
ClinVar Annotator: match by term: Cutaneous melanoma | ClinVar Annotator: match by term: Malignant melanoma of skin
ClinVar
PMID:26619011
NCBI chr 4:152,320,544...152,536,092
Ensembl chr 4:152,320,544...152,536,092
G
GPX1
glutathione peroxidase 1
HEP
mRNA:increased expression:skin of body (human)
RGD
PMID:29535818
RGD:152023655
NCBI chr 3:49,357,176...49,358,353
Ensembl chr 3:49,357,174...49,358,605
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GRM1
glutamate metabotropic receptor 1
ISS
OMIM:608035 | OMIM:612263
MouseDO
NCBI chr 6:146,027,707...146,437,601
Ensembl chr 6:146,027,646...146,437,601
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GSTM1
glutathione S-transferase mu 1
susceptibility
IAGP
DNA:deletion:: (human)
RGD
PMID:11352862
RGD:12792221
NCBI chr 1:109,687,817...109,693,745
Ensembl chr 1:109,687,814...109,709,039
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GSTT1
glutathione S-transferase theta 1
susceptibility
IAGP
DNA:deletion:: (human)
RGD
PMID:11352862
RGD:12792221
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HIF1A
hypoxia inducible factor 1 subunit alpha
IEP
protein:increased expression:epidermis (human)
RGD
PMID:19558170
RGD:8695922
NCBI chr14:61,695,513...61,748,258
Ensembl chr14:61,695,513...61,748,259
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ICAM1
intercellular adhesion molecule 1
disease_progression
IAGP
DNA:missense mutation:exon:p.R241G (human)
RGD
PMID:16313300
RGD:8547698
NCBI chr19:10,271,120...10,286,615
Ensembl chr19:10,271,093...10,286,615
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IDH1
isocitrate dehydrogenase (NADP(+)) 1
IAGP
ClinVar Annotator: match by term: Malignant melanoma of skin
ClinVar
PMID:22160010 PMID:22397365 PMID:22417203 PMID:22898539 PMID:26619011
NCBI chr 2:208,236,227...208,255,071
Ensembl chr 2:208,236,229...208,266,074
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JMJD6
jumonji domain containing 6, arginine demethylase and lysine hydroxylase
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:30619488
NCBI chr17:76,712,836...76,726,606
Ensembl chr17:76,712,832...76,726,799
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LOC126806658
BRD4-independent group 4 enhancer GRCh37_chr3:41265899-41267098
IAGP
ClinVar Annotator: match by term: Malignant melanoma of skin ClinVar Annotator: match by term: Cutaneous melanoma
ClinVar
PMID:10192393 PMID:25741868 PMID:26619011
NCBI chr 3:41,224,408...41,225,607
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LOC130062899
ATAC-STARR-seq lymphoblastoid active region 13597
IAGP
ClinVar Annotator: match by term: DYSPLASTIC NEVUS SYNDROME, HEREDITARY
ClinVar
PMID:25741868 PMID:28492532
NCBI chr19:1,223,046...1,223,255
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MC1R
melanocortin 1 receptor
EXP
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr16:89,918,862...89,920,972
Ensembl chr16:89,912,119...89,920,973
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MIR21
microRNA 21
disease_progression
IEP
RNA:increased expression:skin (human)
RGD
PMID:26150475
RGD:11342032
NCBI chr17:59,841,266...59,841,337
Ensembl chr17:59,841,266...59,841,337
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MITF
melanocyte inducing transcription factor
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:22012259 PMID:22080950
NCBI chr 3:69,739,464...69,968,332
Ensembl chr 3:69,739,456...69,968,336
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MMP1
matrix metallopeptidase 1
disease_progression
IAGP
DNA:polymorphisms, haplotypes:promoter:multiple DNA:SNPs, haplotype:promoter:multiple
RGD
PMID:20655738 PMID:22198560
RGD:8549726 , RGD:8549727
NCBI chr11:102,789,919...102,798,160
Ensembl chr11:102,789,401...102,798,160
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MMP2
matrix metallopeptidase 2
severity
IEP
mRNA:increased expression:skin
RGD
PMID:20966734 PMID:12404291 PMID:18251742
RGD:8657055 , RGD:13204786 , RGD:8657075
NCBI chr16:55,478,830...55,506,691
Ensembl chr16:55,389,700...55,506,691
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MMP9
matrix metallopeptidase 9
disease progression
IAGP IEP
DNA:SNP, missense mutations:promoter, cds:-1562C>T,p.R279Q, p.P574R (human)
RGD
PMID:17346338 PMID:12404291
RGD:8547886 , RGD:13204786
NCBI chr20:46,008,908...46,016,561
Ensembl chr20:46,008,908...46,016,561
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NAIP
NLR family apoptosis inhibitory protein
exacerbates
HEP
mRNA:increased expression:zone of skin (human)
RGD
PMID:31964418
RGD:153344516
NCBI chr 5:70,968,166...71,025,339
Ensembl chr 5:70,968,166...71,025,339
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OCA2
OCA2 melanosomal transmembrane protein
susceptibility
IAGP
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 chr15:27,719,008...28,099,315
Ensembl chr15:27,754,875...28,099,315
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PDCD4
programmed cell death 4
disease_progression
IEP
mRNA:decreased expression:skin (human)
RGD
PMID:26150475
RGD:11342032
NCBI chr10:110,871,928...110,900,006
Ensembl chr10:110,871,795...110,900,006
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PIK3CA
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha
IAGP
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: Malignant melanoma of skin
ClinVar
PMID:15016963 PMID:15254419 PMID:15520168 PMID:15647370 PMID:15805248 PMID:16906227 PMID:16930767 PMID:18676830 PMID:18725974 PMID:19029981 PMID:19366826 PMID:19513541 PMID:19903786 PMID:20453058 PMID:20619739 PMID:21430269 PMID:22162582 PMID:22162589 PMID:22271473 PMID:22729222 PMID:23946963 PMID:25157968 PMID:25741868 PMID:26619011 PMID:29446767 PMID:34496175 More...
NCBI chr 3:179,148,126...179,240,093
Ensembl chr 3:179,148,114...179,240,093
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POT1
protection of telomeres 1
IAGP
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 7:124,822,386...124,929,825
Ensembl chr 7:124,822,386...124,929,983
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PTEN
phosphatase and tensin homolog
IAGP
ClinVar Annotator: match by term: DYSPLASTIC NEVUS SYNDROME, HEREDITARY
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 chr10:87,863,625...87,971,930
Ensembl chr10:87,862,638...87,971,930
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SLC45A2
solute carrier family 45 member 2
IAGP
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 5:33,944,623...33,984,693
Ensembl chr 5:33,944,623...33,984,693
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STAT3
signal transducer and activator of transcription 3
disease_progression
IEP
RGD
PMID:21876460
RGD:8694297
NCBI chr17:42,313,324...42,388,442
Ensembl chr17:42,313,324...42,388,568
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STK11
serine/threonine kinase 11
IAGP EXP
ClinVar Annotator: match by term: DYSPLASTIC NEVUS SYNDROME, HEREDITARY CTD Direct Evidence: marker/mechanism
ClinVar CTD
PMID:25741868 PMID:26467025 PMID:26580448 PMID:28492532 PMID:29368341 PMID:33471991 More...
NCBI chr19:1,205,778...1,228,431
Ensembl chr19:1,177,558...1,228,431
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TERT
telomerase reverse transcriptase
EXP
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr 5:1,253,167...1,295,068
Ensembl chr 5:1,253,147...1,295,068
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TP53
tumor protein p53
IAGP
ClinVar Annotator: match by term: Malignant melanoma of skin ClinVar Annotator: match by term: Cutaneous melanoma
ClinVar
PMID:1565143 PMID:1565144 PMID:7651740 PMID:7707106 PMID:7885831 PMID:8023157 PMID:8080050 PMID:8118819 PMID:9407971 PMID:9572492 PMID:10432928 PMID:10864200 PMID:10871862 PMID:11370630 PMID:11782540 PMID:12826609 PMID:15037740 PMID:15925506 PMID:15977174 PMID:16474844 PMID:16494995 PMID:16508005 PMID:16736287 PMID:16818505 PMID:16861262 PMID:17401428 PMID:17541742 PMID:17572079 PMID:17606709 PMID:18208484 PMID:18307025 PMID:18511570 PMID:19101993 PMID:19468865 PMID:19556618 PMID:20127978 PMID:20407015 PMID:20522432 PMID:21305319 PMID:21343334 PMID:21519010 PMID:21626334 PMID:21761402 PMID:22186996 PMID:22672556 PMID:22915647 PMID:23246812 PMID:23259501 PMID:23894400 PMID:23967324 PMID:24033266 PMID:24384472 PMID:24728327 PMID:25293557 PMID:25503501 PMID:25584008 PMID:25741868 PMID:25952993 PMID:26014290 PMID:26230955 PMID:26270727 PMID:26467025 PMID:26585234 PMID:26619011 PMID:26845104 PMID:27276561 PMID:27328919 PMID:27463065 PMID:27533082 PMID:27616075 PMID:27680515 PMID:27895058 PMID:27959731 PMID:28369373 PMID:28492532 PMID:28861920 PMID:29070607 PMID:29076966 PMID:29489754 PMID:29752822 PMID:29753700 PMID:29979965 PMID:30224644 PMID:30299350 PMID:30327374 PMID:30709381 PMID:30720243 PMID:30840781 PMID:31119730 PMID:31775759 PMID:32019277 PMID:33332384 More...
NCBI chr17:7,668,421...7,687,490
Ensembl chr17:7,661,779...7,687,546
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TP73
tumor protein p73
HEP
mRNA:increased expression:skin of body (human)
RGD
PMID:30420492
RGD:151347580
NCBI chr 1:3,652,516...3,736,201
Ensembl chr 1:3,652,516...3,736,201
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TYR
tyrosinase
susceptibility
IAGP
DNA:missense mutation:cds:p.R402Q(human)
RGD
PMID:21906913
RGD:8694390
NCBI chr11:89,177,875...89,295,759
Ensembl chr11:89,177,875...89,295,759
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VDR
vitamin D receptor
susceptibility no_association
IAGP
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 chr12:47,841,537...47,904,994
Ensembl chr12:47,841,537...47,943,048
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XRCC3
X-ray repair cross complementing 3
EXP
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr14:103,697,617...103,715,451
Ensembl chr14:103,697,609...103,715,504
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CTCF
CCCTC-binding factor
IAGP
DNA:mutations:multiple (human)
RGD
PMID:27974201
RGD:151356739
NCBI chr16:67,562,526...67,639,185
Ensembl chr16:67,562,467...67,639,177
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DDX5
DEAD-box helicase 5
IEP
protein:increased expression:foreskin (human)
RGD
PMID:22548649
RGD:9850272
NCBI chr17:64,498,254...64,506,866
Ensembl chr17:64,498,254...64,508,199
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FAT1
FAT atypical cadherin 1
disease_progression
ISO
associated with Neoplasm Metastasis
RGD
PMID:33328637
RGD:151347447
NCBI chr 4:186,587,794...186,726,696
Ensembl chr 4:186,587,794...186,726,722
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FGF10
fibroblast growth factor 10
ISO
Pten conditional KO mouse
RGD
PMID:24582960
RGD:126928134
NCBI chr 5:44,300,247...44,389,420
Ensembl chr 5:44,300,247...44,389,706
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FYN
FYN proto-oncogene, Src family tyrosine kinase
ISS
MouseDO
NCBI chr 6:111,660,332...111,873,452
Ensembl chr 6:111,660,332...111,873,452
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KNSTRN
kinetochore localized astrin (SPAG5) binding protein
IAGP
DNA:mutation:cds: p.Ala40Glu (human) DNA:mutation:cds: p.Ser24Phe(human)
RGD
PMID:30972880 PMID:25194279
RGD:28867225 , RGD:28867226
NCBI chr15:40,382,721...40,394,288
Ensembl chr15:40,382,721...40,394,288
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PTEN
phosphatase and tensin homolog
ameliorates
ISO
RGD
PMID:24582960
RGD:126928134
NCBI chr10:87,863,625...87,971,930
Ensembl chr10:87,862,638...87,971,930
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