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: squamous cell neoplasm
Accession: DOID:3168
browse the term
Definition: A cell type benign neoplasm composed_of epithelial cells located_in the ectodermal or endodermal cells linking body cavities. (DO)
Synonyms: exact_synonym: epidermoid cell tumor; squamous cell neoplasms; squamous cell tumor
primary_id: MESH:D018307
xref: NCI:C3792
For additional species annotation, visit the
Alliance of Genome Resources .
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BRCA2
BRCA2 DNA repair associated
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:24880342
NCBI chr13:32,315,077...32,400,268
Ensembl chr13:32,315,086...32,400,268
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CHEK2
checkpoint kinase 2
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:24880342
NCBI chr22:28,687,743...28,741,834
Ensembl chr22:28,687,743...28,742,422
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STRAP
serine/threonine kinase receptor associated protein
IDA
RGD
PMID:16778189
RGD:1581429
NCBI chr12:15,882,387...15,903,478
Ensembl chr12:15,882,387...15,903,478
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TP63
tumor protein p63
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:23271742
NCBI chr 3:189,596,746...189,897,276
Ensembl chr 3:189,631,389...189,897,276
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HNF1A
HNF1 homeobox A
ISO
RGD
PMID:10489374
RGD:150540314
NCBI chr12:120,978,543...121,002,512
Ensembl chr12:120,978,543...121,002,512
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DDR2
discoidin domain receptor tyrosine kinase 2
disease_progression
IDA
RGD
PMID:29043607
RGD:150429712
NCBI chr 1:162,630,863...162,787,405
Ensembl chr 1:162,631,373...162,787,405
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IFITM1
interferon induced transmembrane protein 1
disease_progression
IDA
RGD
PMID:29043607
RGD:150429712
NCBI chr11:314,040...315,272
Ensembl chr11:310,041...315,272
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TTR
transthyretin
HEP
protein:increased expression:lung (human)
RGD
PMID:26943652
RGD:151665207
NCBI chr18:31,591,877...31,598,821
Ensembl chr18:31,557,009...31,598,833
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ADH1B
alcohol dehydrogenase 1B (class I), beta polypeptide
IAGP
ClinVar Annotator: match by term: Aerodigestive tract cancer, squamous cell, alcohol-related, protection against
ClinVar
PMID:2398055 PMID:2547609 PMID:6374651 PMID:10697413 PMID:12050823
NCBI chr 4:99,304,971...99,321,401
Ensembl chr 4:99,304,971...99,321,401
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LOC126807122
P300/CBP strongly-dependent group 1 enhancer GRCh37_chr4:100238861-100240060
IAGP
ClinVar Annotator: match by term: Aerodigestive tract cancer, squamous cell, alcohol-related, protection against
ClinVar
PMID:2398055 PMID:2547609 PMID:6374651 PMID:10697413 PMID:12050823
NCBI chr 4:99,317,704...99,318,903
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CCL20
C-C motif chemokine ligand 20
IEP
protein:decreased expression:skin
RGD
PMID:17545018
RGD:7483603
NCBI chr 2:227,813,842...227,817,556
Ensembl chr 2:227,805,739...227,817,564
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CD8A
CD8 subunit alpha
HEP
mRNA:decreased expression:zone of skin (human)
RGD
PMID:25774455
RGD:36174028
NCBI chr 2:86,784,605...86,808,396
Ensembl chr 2:86,784,610...86,808,396
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CTLA4
cytotoxic T-lymphocyte associated protein 4
IEP
mRNA,protein:increased expression:multiple (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr 2:203,867,771...203,873,965
Ensembl chr 2:203,853,888...203,873,965
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FOXP3
forkhead box P3
IEP
mRNA,protein:increased expression:multiple (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr X:49,250,438...49,264,710
Ensembl chr X:49,250,438...49,264,800
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IFNA6
interferon alpha 6
treatment
IEP
RGD
PMID:25774455
RGD:36174028
NCBI chr 9:21,350,318...21,350,887
Ensembl chr 9:21,350,253...21,350,956
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IL10
interleukin 10
IEP
mRNA,protein:increased expression:multiple (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr 1:206,767,602...206,772,494
Ensembl chr 1:206,767,602...206,774,541
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IL12B
interleukin 12B
treatment
IEP
protein:decreased expression:peripheral blood mononuclear cells (human)
RGD
PMID:16114559 PMID:23754510
RGD:7829774 , RGD:40400714
NCBI chr 5:159,314,780...159,330,487
Ensembl chr 5:159,314,780...159,330,863
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IL2
interleukin 2
IEP
protein:decreased expression:peripheral blood mononuclear cells (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr 4:122,451,470...122,456,725
Ensembl chr 4:122,451,470...122,456,725
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IL21
interleukin 21
IEP
protein:decreased expression:blood serum (human)
RGD
PMID:31414711
RGD:127285371
NCBI chr 4:122,610,108...122,621,066
Ensembl chr 4:122,610,108...122,621,066
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IL4
interleukin 4
treatment
IEP
protein:increased expression:peripheral blood mononuclear cells (human)
RGD
PMID:16114559 PMID:23754510
RGD:7829774 , RGD:40400714
NCBI chr 5:132,673,989...132,682,678
Ensembl chr 5:132,673,986...132,682,678
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IL6
interleukin 6
IEP
protein:decreased expression:peripheral blood mononuclear cells (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr 7:22,727,200...22,731,998
Ensembl chr 7:22,725,884...22,732,002
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KLRK1
killer cell lectin like receptor K1
IEP
mRNA,protein:decreased expression:multiple (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr12:10,372,353...10,390,041
Ensembl chr12:10,372,353...10,391,874
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MAPK8
mitogen-activated protein kinase 8
treatment
HEP
mRNA:increased expression:zone of skin (human)
RGD
PMID:25774455
RGD:36174028
NCBI chr10:48,306,677...48,439,360
Ensembl chr10:48,306,639...48,439,360
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MYD88
MYD88 innate immune signal transduction adaptor
IEP
mRNA,protein:increased expression:multiple (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr 3:38,138,661...38,143,022
Ensembl chr 3:38,138,552...38,143,024
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NCR1
natural cytotoxicity triggering receptor 1
IEP
mRNA,protein:decreased expression:multiple (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr19:54,898,198...54,938,208
Ensembl chr19:54,906,148...54,916,140
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PDCD1
programmed cell death 1
IEP
mRNA,protein:increased expression:multiple (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr 2:241,849,884...241,858,894
Ensembl chr 2:241,849,884...241,858,894
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PTPN11
protein tyrosine phosphatase non-receptor type 11
IEP
protein:increased expression:foreskin
RGD
PMID:18543080
RGD:39128248
NCBI chr12:112,418,947...112,509,918
Ensembl chr12:112,418,351...112,509,918
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PTPN6
protein tyrosine phosphatase non-receptor type 6
IEP
protein:increased expression:foreskin
RGD
PMID:18543080
RGD:39128248
NCBI chr12:6,946,577...6,961,316
Ensembl chr12:6,946,468...6,961,316
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SERPINF1
serpin family F member 1
disease_progression
IEP
mRNA, protein:decreased expression:skin of body (human)
RGD
PMID:23569025
RGD:27226706
NCBI chr17:1,762,060...1,777,565
Ensembl chr17:1,762,029...1,777,565
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TGFB1
transforming growth factor beta 1
IEP
mRNA,protein:increased expression:multiple (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr19:41,330,323...41,353,922
Ensembl chr19:41,301,587...41,353,922
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TLR2
toll like receptor 2
IEP
mRNA,protein:increased expression:multiple (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr 4:153,684,280...153,710,637
Ensembl chr 4:153,684,050...153,706,260
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TLR3
toll like receptor 3
IEP
mRNA,protein:increased expression:multiple (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr 4:186,069,156...186,088,073
Ensembl chr 4:186,068,911...186,088,073
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TLR4
toll like receptor 4
IEP
mRNA,protein:increased expression:multiple (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr 9:117,704,403...117,724,735
Ensembl chr 9:117,704,175...117,724,735
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TLR7
toll like receptor 7
IEP
mRNA,protein:increased expression:multiple (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr X:12,867,072...12,890,361
Ensembl chr X:12,867,072...12,890,361
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TLR8
toll like receptor 8
IEP
mRNA,protein:increased expression:multiple (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr X:12,906,620...12,923,169
Ensembl chr X:12,906,620...12,923,169
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TLR9
toll like receptor 9
IEP
mRNA,protein:increased expression:multiple (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr 3:52,221,080...52,225,645
Ensembl chr 3:52,221,080...52,225,645
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TNF
tumor necrosis factor
IEP
protein:increased expression:peripheral blood mononuclear cells (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336
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TNFRSF18
TNF receptor superfamily member 18
IEP
mRNA,protein:increased expression:multiple (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr 1:1,203,508...1,206,592
Ensembl chr 1:1,203,508...1,206,592
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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
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PTEN
phosphatase and tensin homolog
disease_progression
IEP
associated with schistosomiasis;protein:decreased expression:urothelium (human)
RGD
PMID:26916953
RGD:127285612
NCBI chr10:87,863,625...87,971,930
Ensembl chr10:87,862,638...87,971,930
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CCND1
cyclin D1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:29103775
NCBI chr11:69,641,156...69,654,474
Ensembl chr11:69,641,156...69,654,474
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CCNE1
cyclin E1
IEP
associated with Vulvar Neoplasms;mRNA:increased expression:vulva
RGD
PMID:17471573
RGD:2289255
NCBI chr19:29,811,991...29,824,312
Ensembl chr19:29,811,991...29,824,312
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CDKN1A
cyclin dependent kinase inhibitor 1A
IEP
protein:increased expression:skin:
RGD
PMID:10583111
RGD:8662826
NCBI chr 6:36,676,463...36,687,332
Ensembl chr 6:36,676,460...36,687,397
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NRF1
nuclear respiratory factor 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:21514422
NCBI chr 7:129,611,720...129,757,076
Ensembl chr 7:129,611,720...129,757,082
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PPARGC1A
PPARG coactivator 1 alpha
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:21514422
NCBI chr 4:23,792,021...24,472,905
Ensembl chr 4:23,755,041...23,904,089
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TFAM
transcription factor A, mitochondrial
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:21514422
NCBI chr10:58,385,410...58,399,220
Ensembl chr10:58,385,345...58,399,220
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BIRC2
baculoviral IAP repeat containing 2
IEP
mRNA:increased expression:perianal skin (human)
RGD
PMID:20346172
RGD:152998971
NCBI chr11:102,347,214...102,378,670
Ensembl chr11:102,347,211...102,378,670
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BIRC3
baculoviral IAP repeat containing 3
IEP
mRNA:increased expression:perianal skin (human)
RGD
PMID:20346172
RGD:152998971
NCBI chr11:102,317,484...102,339,403
Ensembl chr11:102,317,484...102,339,403
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SASH1
SAM and SH3 domain containing 1
IAGP
ClinVar Annotator: match by term: SASH1-related condition ClinVar Annotator: match by term: Cancer, alopecia, pigment dyscrasia, onychodystrophy, and keratoderma
OMIM ClinVar
PMID:25315659 PMID:25741868 PMID:28492532
NCBI chr 6:148,193,468...148,552,044
Ensembl chr 6:148,272,304...148,552,044
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ADAR
adenosine deaminase RNA specific
disease_progression
IEP
protein:increased expression:cervix squamous epithelium (human)
RGD
PMID:28109322
RGD:125097518
NCBI chr 1:154,582,057...154,627,997
Ensembl chr 1:154,581,695...154,628,013
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BAX
BCL2 associated X, apoptosis regulator
IEP
protein:increased expression:uterine cervix
RGD
PMID:17694953
RGD:1643352
NCBI chr19:48,954,875...48,961,798
Ensembl chr19:48,954,815...48,961,798
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BIRC2
baculoviral IAP repeat containing 2
disease_progression
IEP
DNA, protein:amplification, increased expression:uterine cervix, nucleus
RGD
PMID:12208731
RGD:1643529
NCBI chr11:102,347,214...102,378,670
Ensembl chr11:102,347,211...102,378,670
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BRIP1
BRCA1 interacting DNA helicase 1
severity
IEP
mRNA, protein:increased expression:uterine cervix, nucleus (human)
RGD
PMID:24708616
RGD:11252104
NCBI chr17:61,679,139...61,863,528
Ensembl chr17:61,679,139...61,863,559
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CCL22
C-C motif chemokine ligand 22
severity
IEP
RGD
PMID:28086903
RGD:38455996
NCBI chr16:57,357,909...57,366,189
Ensembl chr16:57,358,783...57,366,189
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CCR4
C-C motif chemokine receptor 4
severity
IEP
RGD
PMID:28086903
RGD:38455996
NCBI chr 3:32,951,644...32,956,349
Ensembl chr 3:32,951,644...32,957,120
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CD82
CD82 molecule
IEP
protein:decreased expression:uterine cervix
RGD
PMID:15642213
RGD:2289399
NCBI chr11:44,564,409...44,620,358
Ensembl chr11:44,564,427...44,620,363
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CSF1R
colony stimulating factor 1 receptor
IEP
protein:increased expression:uterine cervix
RGD
PMID:18565574
RGD:2299119
NCBI chr 5:150,053,295...150,113,365
Ensembl chr 5:150,053,291...150,113,372
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FGF7
fibroblast growth factor 7
IEP
cervical squamous cell carcinoma; mRNA:increased expression:cervical squamous cells
RGD
PMID:17306351
RGD:2289084
NCBI chr15:49,423,242...49,488,775
Ensembl chr15:49,423,237...49,488,775
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FGFR3
fibroblast growth factor receptor 3
no_association
IAGP
DNA:missense mutation:cds: p.S249G (human)
RGD
PMID:11605053
RGD:38500202
NCBI chr 4:1,793,293...1,808,867
Ensembl chr 4:1,793,293...1,808,872
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FOS
Fos proto-oncogene, AP-1 transcription factor subunit
disease_progression
IEP
protein:increased expression:uterine cervix
RGD
PMID:15514944
RGD:2293757
NCBI chr14:75,278,828...75,282,230
Ensembl chr14:75,278,826...75,283,190
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FOSL1
FOS like 1, AP-1 transcription factor subunit
IEP
protein:decreased expression:uterine cervix
RGD
PMID:15514944
RGD:2293757
NCBI chr11:65,892,049...65,900,545
Ensembl chr11:65,892,049...65,900,573
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FOXP3
forkhead box P3
severity
IEP
RGD
PMID:28086903
RGD:38455996
NCBI chr X:49,250,438...49,264,710
Ensembl chr X:49,250,438...49,264,800
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MIR21
microRNA 21
IEP
RNA:increased expression:cervical cell
RGD
PMID:26010154
RGD:41404529
NCBI chr17:59,841,266...59,841,337
Ensembl chr17:59,841,266...59,841,337
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MIR31
microRNA 31
IEP
RNA:increased expression:blood serum (human)
RGD
PMID:21658006
RGD:152998938
NCBI chr 9:21,512,115...21,512,185
Ensembl chr 9:21,512,115...21,512,185
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PDPN
podoplanin
disease_progression
IEP
RGD
PMID:16528371
RGD:2292237
NCBI chr 1:13,583,757...13,617,957
Ensembl chr 1:13,583,465...13,617,957
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SMAD3
SMAD family member 3
severity
IEP
RGD
PMID:28086903
RGD:38455996
NCBI chr15:67,065,602...67,195,169
Ensembl chr15:67,063,763...67,195,173
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TIMP2
TIMP metallopeptidase inhibitor 2
IEP
protein:decreased expression:uterine cervix
RGD
PMID:16619570
RGD:2290402
NCBI chr17:78,852,977...78,925,387
Ensembl chr17:78,852,977...78,925,387
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TMBIM6
transmembrane BAX inhibitor motif containing 6
disease_progression
IEP
mRNA:increased expression:uterine cervix
RGD
PMID:15337562
RGD:2291959
NCBI chr12:49,741,557...49,764,934
Ensembl chr12:49,707,725...49,764,934
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TNFRSF4
TNF receptor superfamily member 4
severity
IEP
RGD
PMID:28086903
RGD:38455996
NCBI chr 1:1,211,340...1,214,153
Ensembl chr 1:1,211,326...1,214,153
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TNFSF4
TNF superfamily member 4
severity
IEP
RGD
PMID:28086903
RGD:38455996
NCBI chr 1:173,172,870...173,450,733
Ensembl chr 1:173,162,645...173,477,583
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TP53
tumor protein p53
disease_progression
IEP
RGD
PMID:17969407
RGD:2298526
NCBI chr17:7,668,421...7,687,490
Ensembl chr17:7,661,779...7,687,546
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TYMP
thymidine phosphorylase
disease_progression
IEP
RGD
PMID:16803522
RGD:2293719
NCBI chr22:50,525,752...50,530,085
Ensembl chr22:50,525,752...50,530,032
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TP53
tumor protein p53
IAGP EXP
ClinVar Annotator: match by term: Choroid plexus papilloma ClinVar Annotator: match by term: Papilloma of choroid plexus ClinVar Annotator: match by term: PAPILLOMA OF CHOROID PLEXUS CTD Direct Evidence: marker/mechanism
ClinVar OMIM CTD
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:7651740 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:9572492 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:11521785 PMID:11600572 PMID:11753428 PMID:11782540 PMID:12007217 PMID:12019170 PMID:12085209 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:18989156 PMID:19046423 PMID:19101993 PMID:19127115 PMID:19367569 PMID:19454241 PMID:19521721 PMID:19556618 PMID:19711436 PMID:19714490 PMID:19717094 PMID:19850740 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:22004116 PMID:22006311 PMID:22110706 PMID:22170717 PMID:22186996 PMID:22233476 PMID:22455664 PMID:22619358 PMID:22653678 PMID:22703879 PMID:22729912 PMID:22744426 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:23538418 PMID:23570263 PMID:23624782 PMID:23630318 PMID:23639312 PMID:23713777 PMID:23733769 PMID:23792586 PMID:23794094 PMID:23887774 PMID:23894400 PMID:24033266 PMID:24065105 PMID:24076587 PMID:24122735 PMID:24382691 PMID:24501221 PMID:24573247 PMID:24590827 PMID:24651012 PMID:24677579 PMID:24702488 PMID:24728327 PMID:24764719 PMID:24810334 PMID:24835218 PMID:24884479 PMID:24936644 PMID:25059482 PMID:25256166 PMID:25326637 PMID:25404506 PMID:25584008 PMID:25612911 PMID:25736369 PMID:25741868 PMID:25765855 PMID:25773284 PMID:25787918 PMID:25896519 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:26681051 PMID:26681312 PMID:26681682 PMID:26718964 PMID:26786923 PMID:26822237 PMID:26845104 PMID:26911350 PMID:27022024 PMID:27081505 PMID:27101110 PMID:27146902 PMID:27153395 PMID:27223487 PMID:27276561 PMID:27311873 PMID:27328919 PMID:27374712 PMID:27463065 PMID:27501770 PMID:27516001 PMID:27601191 PMID:27621308 PMID:27622479 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:28780976 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:29575851 PMID:29753700 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:30630526 PMID:30709381 PMID:30816478 PMID:30840781 PMID:30851333 PMID:30982232 PMID:31081129 PMID:31089155 PMID:31105275 PMID:31321604 PMID:31472337 PMID:31494577 PMID:31567591 PMID:31742824 PMID:31744167 PMID:31748977 PMID:31775759 PMID:31845386 PMID:31882575 PMID:31978118 PMID:31983162 PMID:32000721 PMID:32039725 PMID:32156018 PMID:32292755 PMID:32322420 PMID:32427313 PMID:32592449 PMID:32658383 PMID:32671623 PMID:32817165 PMID:32832836 PMID:32888145 PMID:32906206 PMID:32980694 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:34166060 PMID:34240179 PMID:34249098 PMID:34299313 PMID:34503094 PMID:34529667 PMID:34540492 PMID:34670578 PMID:34709361 PMID:34754157 PMID:34885220 PMID:35043155 PMID:35367578 PMID:35802772 PMID:35974385 PMID:36003761 PMID:36008825 PMID:36309086 PMID:36329109 PMID:36988593 PMID:37653074 PMID:39060302 More...
NCBI chr17:7,668,421...7,687,490
Ensembl chr17:7,661,779...7,687,546
G
ADAM3A
ADAM metallopeptidase domain 3A (pseudogene)
IAGP
DNA, mRNA:amplification, increase expression
RGD
PMID:25491297
RGD:13831354
NCBI chr 8:39,451,045...39,522,989
Ensembl chr 8:39,451,045...39,522,852 Ensembl chr 8:39,451,045...39,522,852
G
LOC130061783
ATAC-STARR-seq lymphoblastoid active region 12855
IAGP
ClinVar Annotator: match by term: Epidermodysplasia verruciformis
ClinVar
PMID:28492532
NCBI chr17:78,121,180...78,121,239
G
LOC130061785
ATAC-STARR-seq lymphoblastoid active region 12857
IAGP
ClinVar Annotator: match by term: Epidermodysplasia verruciformis
ClinVar
PMID:25741868 PMID:28492532
NCBI chr17:78,122,490...78,122,639
G
LOC130061786
ATAC-STARR-seq lymphoblastoid silent region 9039
IAGP
ClinVar Annotator: match by term: Epidermodysplasia verruciformis
ClinVar
PMID:25741868 PMID:28492532
NCBI chr17:78,124,789...78,125,038
G
LOC130061792
ATAC-STARR-seq lymphoblastoid silent region 9043
IAGP
ClinVar Annotator: match by term: Epidermodysplasia verruciformis
ClinVar
PMID:9536098 PMID:12426567 PMID:17576681 PMID:22158547 PMID:25741868 PMID:28492532 More...
NCBI chr17:78,131,459...78,131,978
G
LOC130061793
ATAC-STARR-seq lymphoblastoid silent region 9044
IAGP
ClinVar Annotator: match by term: Epidermodysplasia verruciformis
ClinVar
PMID:12426567 PMID:22158547 PMID:28492532
NCBI chr17:78,132,089...78,132,478
G
LOC130061795
ATAC-STARR-seq lymphoblastoid active region 12864
IAGP
ClinVar Annotator: match by term: Epidermodysplasia verruciformis
ClinVar
PMID:9536098 PMID:12426567 PMID:16199547 PMID:17576681 PMID:22158547 PMID:25741868 PMID:28492532 More...
NCBI chr17:78,138,134...78,138,303
G
TMC6
transmembrane channel like 6
EXP IAGP
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Epidermodysplasia verruciformis
CTD ClinVar
PMID:9536098 PMID:12426567 PMID:15042430 PMID:16199547 PMID:17139267 PMID:17576681 PMID:22158547 PMID:24033266 PMID:25741868 PMID:28492532 PMID:36268689 More...
NCBI chr17:78,107,397...78,132,427
Ensembl chr17:78,107,397...78,132,407
G
TMC8
transmembrane channel like 8
IAGP
ClinVar Annotator: match by term: Epidermodysplasia verruciformis
ClinVar
PMID:9536098 PMID:10084299 PMID:12426567 PMID:16045695 PMID:16199547 PMID:17368633 PMID:17576681 PMID:22158547 PMID:24033266 PMID:25741868 PMID:28492532 More...
NCBI chr17:78,130,771...78,142,968
Ensembl chr17:78,130,770...78,142,968
G
TNRC6C
trinucleotide repeat containing adaptor 6C
IAGP
ClinVar Annotator: match by term: Epidermodysplasia verruciformis
ClinVar
PMID:28492532
NCBI chr17:77,957,557...78,108,835
Ensembl chr17:77,958,703...78,108,822
G
LOC130061785
ATAC-STARR-seq lymphoblastoid active region 12857
IAGP
ClinVar Annotator: match by term: Epidermodysplasia verruciformis, susceptibility to, 1
ClinVar
PMID:25741868 PMID:28492532
NCBI chr17:78,122,490...78,122,639
G
LOC130061786
ATAC-STARR-seq lymphoblastoid silent region 9039
IAGP
ClinVar Annotator: match by term: TMC6-related condition
ClinVar
PMID:25741868 PMID:28492532
NCBI chr17:78,124,789...78,125,038
G
LOC130061792
ATAC-STARR-seq lymphoblastoid silent region 9043
IAGP
ClinVar Annotator: match by term: Epidermodysplasia verruciformis, susceptibility to, 1
ClinVar
PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532
NCBI chr17:78,131,459...78,131,978
G
LOC130061795
ATAC-STARR-seq lymphoblastoid active region 12864
IAGP
ClinVar Annotator: match by term: Epidermodysplasia verruciformis, susceptibility to, 1
ClinVar
PMID:25741868
NCBI chr17:78,138,134...78,138,303
G
TMC6
transmembrane channel like 6
susceptibility
IAGP
ClinVar Annotator: match by term: Epidermodysplasia verruciformis, susceptibility to, 1 ClinVar Annotator: match by term: Epidermodysplasia verruciformis, susceptibility to, 1 | ClinVar Annotator: match by term: TMC6-related condition
ClinVar OMIM
PMID:9536098 PMID:12426567 PMID:15042430 PMID:16199547 PMID:17139267 PMID:17576681 PMID:25741868 PMID:28492532 PMID:36268689 More...
NCBI chr17:78,107,397...78,132,427
Ensembl chr17:78,107,397...78,132,407
G
TMC8
transmembrane channel like 8
IAGP
ClinVar Annotator: match by term: Epidermodysplasia verruciformis, susceptibility to, 1
ClinVar
PMID:9536098 PMID:12426567 PMID:17576681 PMID:22158547 PMID:25741868 PMID:28492532 More...
NCBI chr17:78,130,771...78,142,968
Ensembl chr17:78,130,770...78,142,968
G
LOC130061792
ATAC-STARR-seq lymphoblastoid silent region 9043
IAGP
ClinVar Annotator: match by term: Epidermodysplasia verruciformis, susceptibility to, 2
ClinVar
PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532
NCBI chr17:78,131,459...78,131,978
G
LOC130061793
ATAC-STARR-seq lymphoblastoid silent region 9044
IAGP
ClinVar Annotator: match by term: TMC8-related condition
ClinVar
PMID:28492532
NCBI chr17:78,132,089...78,132,478
G
LOC130061795
ATAC-STARR-seq lymphoblastoid active region 12864
IAGP
ClinVar Annotator: match by term: Epidermodysplasia verruciformis, susceptibility to, 2
ClinVar
PMID:25741868
NCBI chr17:78,138,134...78,138,303
G
TMC6
transmembrane channel like 6
IAGP
ClinVar Annotator: match by term: Epidermodysplasia verruciformis, susceptibility to, 2 ClinVar Annotator: match by term: TMC8-related condition
ClinVar
PMID:9536098 PMID:17576681 PMID:24033266 PMID:25741868 PMID:28492532
NCBI chr17:78,107,397...78,132,427
Ensembl chr17:78,107,397...78,132,407
G
TMC8
transmembrane channel like 8
susceptibility
IAGP
ClinVar Annotator: match by term: Epidermodysplasia verruciformis, susceptibility to, 2 ClinVar Annotator: match by term: Epidermodysplasia verruciformis, susceptibility to, 2 | ClinVar Annotator: match by term: TMC8-related condition
ClinVar OMIM
PMID:9536098 PMID:10084299 PMID:12426567 PMID:16199547 PMID:17576681 PMID:22158547 PMID:24033266 PMID:25741868 PMID:28492532 PMID:28646613 More...
NCBI chr17:78,130,771...78,142,968
Ensembl chr17:78,130,770...78,142,968
G
CIB1
calcium and integrin binding 1
susceptibility
IAGP
ClinVar Annotator: match by term: Epidermodysplasia verruciformis, susceptibility to, 3 ClinVar Annotator: match by term: CIB1-related condition
ClinVar OMIM
PMID:228581 PMID:19702156 PMID:20982046 PMID:21196704 PMID:25741868 PMID:28492532 PMID:28646613 PMID:30068544 More...
NCBI chr15:90,229,975...90,265,759
Ensembl chr15:90,229,975...90,234,047
G
LOC130057907
ATAC-STARR-seq lymphoblastoid silent region 6817
IAGP
ClinVar Annotator: match by term: Epidermodysplasia verruciformis, susceptibility to, 3
ClinVar
PMID:30068544
NCBI chr15:90,233,434...90,233,883
G
KRT10
keratin 10
IAGP
ClinVar Annotator: match by term: Epidermolytic acanthoma
ClinVar
PMID:1381287 PMID:7508181 PMID:7509230 PMID:7512983 PMID:21271994 PMID:22930352 PMID:25741868 PMID:26176760 PMID:28492532 PMID:28532675 PMID:32045015 More...
NCBI chr17:40,818,117...40,822,614
Ensembl chr17:40,818,117...40,822,614
G
KRT10-AS1
KRT10 antisense RNA 1
IAGP
ClinVar Annotator: match by term: Epidermolytic acanthoma
ClinVar
PMID:1381287 PMID:7508181 PMID:7509230 PMID:7512983 PMID:21271994 PMID:22930352 PMID:25741868 PMID:26176760 PMID:28492532 PMID:28532675 PMID:32045015 More...
NCBI chr17:40,819,145...40,836,274
Ensembl chr17:40,819,071...40,836,273
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ABCC2
ATP binding cassette subfamily C member 2
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:21206495
NCBI chr10:99,782,640...99,852,594
Ensembl chr10:99,782,640...99,852,594
G
ADCYAP1
adenylate cyclase activating polypeptide 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:21517111
NCBI chr18:904,411...912,172
Ensembl chr18:904,871...912,172
G
ADH1B
alcohol dehydrogenase 1B (class I), beta polypeptide
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:22960999
NCBI chr 4:99,304,971...99,321,401
Ensembl chr 4:99,304,971...99,321,401
G
AJUBA
ajuba LIM protein
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:25151357
NCBI chr14:22,971,177...22,982,551
Ensembl chr14:22,971,177...22,982,551
G
AKT1
AKT serine/threonine kinase 1
disease_progression
IEP
protein:increased expression:esophagus (human)
RGD
PMID:32642408
RGD:152995512
NCBI chr14:104,769,349...104,795,748
Ensembl chr14:104,769,349...104,795,759
G
ALDH2
aldehyde dehydrogenase 2 family member
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:16639733 PMID:22960999
NCBI chr12:111,766,933...111,817,532
Ensembl chr12:111,766,887...111,817,532
G
ANXA1
annexin A1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:21517111
NCBI chr 9:73,151,865...73,170,393
Ensembl chr 9:73,151,865...73,170,629
G
ATM
ATM serine/threonine kinase
disease_progression
IEP
Smoke Inhalation Injury; mRNA:increased expression:esophagus (human)
RGD
PMID:17019709
RGD:150340713
NCBI chr11:108,223,067...108,369,102
Ensembl chr11:108,222,804...108,369,102
G
ATP1B2
ATPase Na+/K+ transporting subunit beta 2
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:25129146
NCBI chr17:7,646,627...7,657,770
Ensembl chr17:7,646,627...7,657,770
G
AXIN1
axin 1
disease_progression
IEP
protein:decreased expression:esophagus (human)
RGD
PMID:12771989
RGD:150530473
NCBI chr16:287,440...352,723
Ensembl chr16:287,440...352,723
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AZGP1
alpha-2-glycoprotein 1, zinc-binding
disease_progression
IEP
RGD
PMID:28053542
RGD:153350138
NCBI chr 7:99,966,730...99,976,031
Ensembl chr 7:99,966,720...99,976,042
G
AZIN1
antizyme inhibitor 1
IMP
RGD
PMID:24302582
RGD:14700707
NCBI chr 8:102,826,302...102,864,200
Ensembl chr 8:102,826,111...102,893,864
G
B2M
beta-2-microglobulin
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:21517111
NCBI chr15:44,711,517...44,718,145
Ensembl chr15:44,711,358...44,718,851
G
BLVRB
biliverdin reductase B
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:21517111
NCBI chr19:40,447,768...40,465,745
Ensembl chr19:40,447,765...40,465,764
G
BMI1
BMI1 proto-oncogene, polycomb ring finger
IEP
RGD
PMID:21165554
RGD:126781701
NCBI chr10:22,321,099...22,331,706
Ensembl chr10:22,321,099...22,331,484
G
BMP6
bone morphogenetic protein 6
IEP
protein:increased expression:esophagus
RGD
PMID:22364398
RGD:7242413
NCBI chr 6:7,726,099...7,881,728
Ensembl chr 6:7,726,099...7,881,728
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BRCA1
BRCA1 DNA repair associated
IAGP
DNA:SNP: :rs799917 (human)
RGD
PMID:23749772
RGD:126925960
NCBI chr17:43,044,295...43,170,327
Ensembl chr17:43,044,295...43,170,245
G
BRCA2
BRCA2 DNA repair associated
IAGP
DNA:nonsense mutation: :p.K3326X (human)
RGD
PMID:21279724
RGD:11344913
NCBI chr13:32,315,077...32,400,268
Ensembl chr13:32,315,086...32,400,268
G
BST2
bone marrow stromal cell antigen 2
disease_progression
IEP
RGD
PMID:26832883
RGD:14398496
NCBI chr19:17,402,939...17,405,630
Ensembl chr19:17,402,939...17,405,630
G
BUB1B
BUB1 mitotic checkpoint serine/threonine kinase B
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:18691855
NCBI chr15:40,161,069...40,221,123
Ensembl chr15:40,161,023...40,221,123
G
CA1
carbonic anhydrase 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:21517111
NCBI chr 8:85,327,608...85,378,113
Ensembl chr 8:85,327,608...85,379,014
G
CA12
carbonic anhydrase 12
severity
IEP
RGD
PMID:26316888
RGD:155226859
NCBI chr15:63,321,378...63,381,846
Ensembl chr15:63,321,378...63,381,846
G
CA2
carbonic anhydrase 2
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:21517111
NCBI chr 8:85,464,007...85,481,493
Ensembl chr 8:85,463,968...85,481,493
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CALR
calreticulin
ameliorates
EXP IMP
CTD Direct Evidence: marker/mechanism human cells in a mouse model
CTD RGD
PMID:21517111 PMID:19684620 PMID:23814025
RGD:150521703 , RGD:150521679
NCBI chr19:12,938,609...12,944,489
Ensembl chr19:12,938,578...12,944,489
G
CAPZA1
capping actin protein of muscle Z-line subunit alpha 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:21517111
NCBI chr 1:112,619,832...112,671,616
Ensembl chr 1:112,619,805...112,671,616
G
CASP8
caspase 8
exacerbates
IEP
mRNA,protein:decreased expression:esophagus squamous epithelium (human)
RGD
PMID:31885720
RGD:153300949
NCBI chr 2:201,233,463...201,287,711
Ensembl chr 2:201,233,443...201,361,836
G
CBX8
chromobox 8
severity
IEP
mRNA:increased expression:esophagus:
RGD
PMID:25197352
RGD:9587436
NCBI chr17:79,792,132...79,797,077
Ensembl chr17:79,792,132...79,801,683
G
CCHCR1
coiled-coil alpha-helical rod protein 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:29379198
NCBI chr 6:31,142,439...31,158,197
Ensembl chr 6:31,142,439...31,158,238
G
CCND1
cyclin D1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:25151357
NCBI chr11:69,641,156...69,654,474
Ensembl chr11:69,641,156...69,654,474
G
CDKN1A
cyclin dependent kinase inhibitor 1A
EXP
CTD Direct Evidence: therapeutic
CTD
PMID:15375580
NCBI chr 6:36,676,463...36,687,332
Ensembl chr 6:36,676,460...36,687,397
G
CDKN2A
cyclin dependent kinase inhibitor 2A
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:25151357
NCBI chr 9:21,967,752...21,995,324
Ensembl chr 9:21,967,752...21,995,301
G
CDKN2B
cyclin dependent kinase inhibitor 2B
IAGP
DNA:SNPs: :rs615552, rs573687 (human)
RGD
PMID:23361049
RGD:7248756
NCBI chr 9:22,002,903...22,009,313
Ensembl chr 9:22,002,903...22,009,305
G
CFL1
cofilin 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:21517111
NCBI chr11:65,854,673...65,858,180
Ensembl chr11:65,823,022...65,862,026
G
CHRNA5
cholinergic receptor nicotinic alpha 5 subunit
susceptibility
IAGP IEP
DNA:SNP: :rs667282(human) mRNA:increased expression:esophagus (human)
RGD
PMID:23844051 PMID:27610024
RGD:150524358 , RGD:151361143
NCBI chr15:78,565,520...78,595,269
Ensembl chr15:78,565,520...78,595,269
G
CHRNA7
cholinergic receptor nicotinic alpha 7 subunit
exacerbates disease_progression
IEP IDA
mRNA:increased expression:esophagus (human)
RGD
PMID:27610024 PMID:33603170 PMID:33603170
RGD:151361143 , RGD:151667905 , RGD:151667905
NCBI chr15:32,030,483...32,173,018
Ensembl chr15:31,923,438...32,173,018
G
CHRNB4
cholinergic receptor nicotinic beta 4 subunit
IEP
mRNA:increased expression:esophagus (human)
RGD
PMID:27610024
RGD:151361143
NCBI chr15:78,624,111...78,661,641
Ensembl chr15:78,624,111...78,727,754
G
CLIC1
chloride intracellular channel 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:21517111
NCBI chr 6:31,730,581...31,737,318
Ensembl chr 6:31,730,581...31,739,763
G
CLPTM1L
CLPTM1 like
susceptibility no_association
IAGP IEP
DNA:SNP: :rs451360(human) DNA:SNP: :rs401681(human) mRNA:increased expression:esophagus
RGD
PMID:26716642 PMID:24386361 PMID:25480402 PMID:25007268
RGD:11572962 , RGD:150537098 , RGD:150530497 , RGD:150530488
NCBI chr 5:1,317,752...1,345,099
Ensembl chr 5:1,317,752...1,345,099
G
COL14A1
collagen type XIV alpha 1 chain
disease_progression
IDA
DNA:hypermethylation
RGD
PMID:25050929
RGD:151665741
NCBI chr 8:120,124,454...120,373,573
Ensembl chr 8:120,059,780...120,373,573
G
CRABP1
cellular retinoic acid binding protein 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:17438526
NCBI chr15:78,340,353...78,348,225
Ensembl chr15:78,340,353...78,348,225
G
CREBBP
CREB binding protein
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:25151357
NCBI chr16:3,725,054...3,880,713
Ensembl chr16:3,725,054...3,880,713
G
CSF1R
colony stimulating factor 1 receptor
HEP
mRNA:decreased expression:esophagus squamous epithelium (human)
RGD
PMID:32038997
RGD:150524298
NCBI chr 5:150,053,295...150,113,365
Ensembl chr 5:150,053,291...150,113,372
G
CSTB
cystatin B
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:21517111
NCBI chr21:43,773,950...43,776,308
Ensembl chr21:43,772,511...43,776,330
G
CXCL8
C-X-C motif chemokine ligand 8
severity
IEP
mRNA:increased expression:esophagus (human)
RGD
PMID:31423201
RGD:150520019
NCBI chr 4:73,740,569...73,743,716
Ensembl chr 4:73,740,519...73,743,716
G
CXCR4
C-X-C motif chemokine receptor 4
disease_progression
IEP
protein:increased expression:esophagus squamous epithelium (human)
RGD
PMID:17171785
RGD:152023646
NCBI chr 2:136,114,349...136,118,149
Ensembl chr 2:136,114,349...136,119,177
G
CYP1A1
cytochrome P450 family 1 subfamily A member 1
IAGP
RGD
PMID:11860825
RGD:14700943
NCBI chr15:74,719,542...74,725,528
Ensembl chr15:74,719,542...74,725,536
G
CYP1B1
cytochrome P450 family 1 subfamily B member 1
ISO
protein:increased expression:esophagus (rat)
RGD
PMID:18618592
RGD:7829715
NCBI chr 2:38,067,509...38,076,151
Ensembl chr 2:38,066,973...38,109,902
G
CYP24A1
cytochrome P450 family 24 subfamily A member 1
susceptibility
IAGP
DNA:SNP:CDS: (rs2296241) (human)
RGD
PMID:28362172
RGD:151665500
NCBI chr20:54,143,538...54,173,986
Ensembl chr20:54,153,446...54,173,986
G
CYP26B1
cytochrome P450 family 26 subfamily B member 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:29379198
NCBI chr 2:72,129,238...72,147,862
Ensembl chr 2:72,129,238...72,147,862
G
CYP2A6
cytochrome P450 family 2 subfamily A member 6
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:11241319
NCBI chr19:40,843,541...40,850,447
Ensembl chr19:40,843,541...40,850,447
G
DAB2IP
DAB2 interacting protein
severity
IEP
protein:decreased expression:esophagus (human)
RGD
PMID:30464518
RGD:151665168
NCBI chr 9:121,567,074...121,785,530
Ensembl chr 9:121,567,057...121,785,530
G
DCC
DCC netrin 1 receptor
IAGP
DNA:deletions:multiple (human)
OMIM RGD
PMID:8187090
RGD:734879
NCBI chr18:52,340,197...53,535,899
Ensembl chr18:52,340,197...53,535,899
G
DIDO1
death inducer-obliterator 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:30431698
NCBI chr20:62,877,743...62,937,904
Ensembl chr20:62,877,738...62,937,952
G
DNMT3B
DNA methyltransferase 3 beta
disease_progression
IEP
protein:increased expression:nucleus:
RGD
PMID:22213175
RGD:9589085
NCBI chr20:32,762,385...32,809,356
Ensembl chr20:32,762,385...32,809,359
G
DPP4
dipeptidyl peptidase 4
IEP
protein:increased expression: esophagus
RGD
PMID:24789592
RGD:152600903
NCBI chr 2:161,992,245...162,074,215
Ensembl chr 2:161,992,245...162,074,394
G
EFNB2
ephrin B2
severity exacerbates ameliorates
IEP IMP
mRNA:increased expression:esophagus squamous epithelium (human) mRNA,protein:increased expression:esophagus squamous epithelium (human) human cells in mouse model
RGD
PMID:17611172 PMID:31885720 PMID:29190834
RGD:153300947 , RGD:153300949 , RGD:153300948
NCBI chr13:106,489,745...106,535,662
Ensembl chr13:106,489,745...106,535,662
G
EGFR
epidermal growth factor receptor
severity
IEP EXP
protein:increased expression:esophagus (human) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:21947696 PMID:10385363
RGD:5131486
NCBI chr 7:55,019,017...55,211,628
Ensembl chr 7:55,019,017...55,211,628
G
EHMT1
euchromatic histone lysine methyltransferase 1
disease_progression
IEP
protein:increased expression:esophagus: protein:increased expression:esophagus mucosa:
RGD
PMID:24649311 PMID:24805087
RGD:9589143 , RGD:9590071
NCBI chr 9:137,619,005...137,836,127
Ensembl chr 9:137,618,992...137,870,016
G
EHMT2
euchromatic histone lysine methyltransferase 2
disease_progression
IEP
protein:increased expression:esophagus mucosa:
RGD
PMID:24805087
RGD:9590071
NCBI chr 6:31,879,759...31,897,698
Ensembl chr 6:31,879,759...31,897,698
G
EP300
E1A binding protein p300
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:17965222 PMID:25151357
NCBI chr22:41,092,592...41,180,077
Ensembl chr22:41,092,510...41,180,077
G
EPB41L3
erythrocyte membrane protein band 4.1 like 3
disease_progression
IDA
DNA:hypermethylation
RGD
PMID:25050929
RGD:151665741
NCBI chr18:5,392,386...5,630,663
Ensembl chr18:5,392,381...5,630,700
G
EPHB4
EPH receptor B4
exacerbates
IEP
mRNA,protein:increased expression:esophagus squamous epithelium (human)
RGD
PMID:31885720
RGD:153300949
NCBI chr 7:100,802,565...100,827,523
Ensembl chr 7:100,802,565...100,827,523
G
ERBB4
erb-b2 receptor tyrosine kinase 4
susceptibility disease_progression
IAGP IEP
DNA:SNPs, haplotypes: :rs1595066 and rs16845990 (human) protein:altered localization:nucleus
RGD
PMID:24916311 PMID:18000820
RGD:126781764 , RGD:126781765
NCBI chr 2:211,375,717...212,538,802
Ensembl chr 2:211,375,717...212,538,841
G
ERCC1
ERCC excision repair 1, endonuclease non-catalytic subunit
treatment
IEP
RGD
PMID:23263828
RGD:11252162
NCBI chr19:45,407,334...45,451,547
Ensembl chr19:45,407,334...45,478,828
G
EZH2
enhancer of zeste 2 polycomb repressive complex 2 subunit
disease_progression
IEP
RGD
PMID:25613619 PMID:21165554
RGD:126781697 , RGD:126781701
NCBI chr 7:148,807,383...148,884,291
Ensembl chr 7:148,807,257...148,884,321
G
FANCA
FA complementation group A
IAGP
DNA:missense mutation: :p.S858R (human)
RGD
PMID:21279724
RGD:11344913
NCBI chr16:89,737,549...89,816,647
Ensembl chr16:89,726,683...89,816,977
G
FAP
fibroblast activation protein alpha
IEP
protein:increased expression: esophagus
RGD
PMID:24789592
RGD:152600903
NCBI chr 2:162,170,684...162,243,445
Ensembl chr 2:162,170,684...162,245,151
G
FASN
fatty acid synthase
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:29379198
NCBI chr17:82,078,338...82,098,236
Ensembl chr17:82,078,338...82,098,294
G
FAT1
FAT atypical cadherin 1
EXP IEP IMP HEP
CTD Direct Evidence: marker/mechanism protein:decreased expression:esophagus squamous epithelium (human) protein:decreased expression:esophagus squamous epithelium (human)
CTD RGD
PMID:25151357 PMID:29365412 PMID:24590895 PMID:24590895
RGD:151347646 , RGD:151347630 , RGD:151347630
NCBI chr 4:186,587,794...186,726,696
Ensembl chr 4:186,587,794...186,726,722
G
FAT2
FAT atypical cadherin 2
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:25151357
NCBI chr 5:151,504,092...151,594,819
Ensembl chr 5:151,504,092...151,591,331
G
FAT3
FAT atypical cadherin 3
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:25151357
NCBI chr11:92,224,818...92,896,473
Ensembl chr11:92,224,818...92,896,473
G
FAT4
FAT atypical cadherin 4
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:25151357
NCBI chr 4:125,314,955...125,492,932
Ensembl chr 4:125,314,918...125,492,932
G
FBXW7
F-box and WD repeat domain containing 7
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:25151357
NCBI chr 4:152,320,544...152,536,092
Ensembl chr 4:152,320,544...152,536,092
G
FES
FES proto-oncogene, tyrosine kinase
exacerbates
IDA
DNA:hypermethylation: (human)
RGD
PMID:24936140
RGD:153323298
NCBI chr15:90,884,504...90,895,776
Ensembl chr15:90,883,695...90,895,776
G
FGFR4
fibroblast growth factor receptor 4
treatment
IAGP
RGD
PMID:25989802
RGD:150520041
NCBI chr 5:177,086,915...177,098,144
Ensembl chr 5:177,086,905...177,098,144
G
FKBP1A
FKBP prolyl isomerase 1A
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:21517111
NCBI chr20:1,368,978...1,393,054
Ensembl chr20:1,368,977...1,393,164
G
FOXA1
forkhead box A1
onset
IAGP IEP
DNA:SNPs: :rs12894364 C>T, rs2145146 C>A (human)
RGD
PMID:27050876 PMID:29788741
RGD:151665743 , RGD:151665759
NCBI chr14:37,589,552...37,595,249
Ensembl chr14:37,589,552...37,596,059
G
FUBP1
far upstream element binding protein 1
exacerbates
IEP
protein:increased expression:esophagus (human) mRNA:increased expression:esophagus (human)
RGD
PMID:26490982 PMID:32481602
RGD:151361192 , RGD:151361197
NCBI chr 1:77,944,055...77,979,501
Ensembl chr 1:77,944,055...77,979,110
G
GDI2
GDP dissociation inhibitor 2
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:21517111
NCBI chr10:5,765,223...5,813,434
Ensembl chr10:5,765,222...5,842,132
G
GLO1
glyoxalase I
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:21517111
NCBI chr 6:38,675,925...38,703,145
Ensembl chr 6:38,675,925...38,703,145
G
GPX3
glutathione peroxidase 3
disease_progression
IDA HDA
DNA:hypermethylation
RGD
PMID:30018730 PMID:25050929 PMID:20725785
RGD:151665494 , RGD:151665741 , RGD:151665495
NCBI chr 5:151,020,591...151,028,988
Ensembl chr 5:151,020,591...151,028,988
G
GRB7
growth factor receptor bound protein 7
exacerbates
IEP HEP
protein:increased expression:esophagus (human) mRNA:increased expression:esophagus mucosa (human)
RGD
PMID:10797316 PMID:26465158
RGD:151347654 , RGD:151347661
NCBI chr17:39,737,938...39,747,285
Ensembl chr17:39,737,927...39,747,291
G
GSTM1
glutathione S-transferase mu 1
no_association
IAGP
RGD
PMID:11860825 PMID:17916905 PMID:25432134
RGD:14700943 , RGD:14700982 , RGD:14700948
NCBI chr 1:109,687,817...109,693,745
Ensembl chr 1:109,687,814...109,709,039
G
GSTO1
glutathione S-transferase omega 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:21517111
NCBI chr10:104,254,173...104,267,455
Ensembl chr10:104,235,356...104,267,459
G
GSTP1
glutathione S-transferase pi 1
IAGP
DNA:polymorphism: :p.I105V (human)
RGD
PMID:17916905
RGD:14700982
NCBI chr11:67,583,812...67,586,653
Ensembl chr11:67,583,742...67,586,656
G
GSTT1
glutathione S-transferase theta 1
IAGP EXP
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:17173682 PMID:25432134 PMID:17916905
RGD:14700948 , RGD:14700982
G
H19
H19 imprinted maternally expressed transcript
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:32739445
NCBI chr11:1,995,176...2,001,266
Ensembl chr11:1,995,165...2,004,552
G
H2BC14
H2B clustered histone 14
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:21517111
NCBI chr 6:27,815,022...27,815,489
Ensembl chr 6:27,815,022...27,815,489
G
HEIH
hepatocellular carcinoma up-regulated EZH2-associated long non-coding RNA
exacerbates
IEP
mRNA:increased expression:esophagus squamous epithelium (human)
RGD
PMID:32449803
RGD:153345544
NCBI chr 5:180,829,954...180,831,618
Ensembl chr 5:180,824,604...180,861,858
G
HIF1A
hypoxia inducible factor 1 subunit alpha
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:17201171
NCBI chr14:61,695,513...61,748,258
Ensembl chr14:61,695,513...61,748,259
G
HMGB1
high mobility group box 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:21517111
NCBI chr13:30,456,704...30,617,597
Ensembl chr13:30,456,704...30,617,597
G
HMGN5
high mobility group nucleosome binding domain 5
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28914995
NCBI chr X:81,113,699...81,201,913
Ensembl chr X:81,113,699...81,201,913
G
HOXB7
homeobox B7
severity
IEP
protein:increased expression:esophageal mucosa (human)
RGD
PMID:26076456
RGD:10402177
NCBI chr17:48,607,232...48,611,017
Ensembl chr17:48,607,232...48,633,572
G
HSPA5
heat shock protein family A (Hsp70) member 5
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:21517111
NCBI chr 9:125,234,853...125,241,343
Ensembl chr 9:125,234,853...125,241,382
G
HTRA1
HtrA serine peptidase 1
exacerbates ameliorates
IEP IMP
mRNA,protein:decreased expression:epithelium of esophagus (human) human gene and cells in mouse model
RGD
PMID:23079781 PMID:23079781
RGD:152975633 , RGD:152975633
NCBI chr10:122,461,553...122,514,907
Ensembl chr10:122,458,551...122,514,907
G
IDH2
isocitrate dehydrogenase (NADP(+)) 2
severity
IMP
human cells in mouse model
RGD
PMID:32367071
RGD:149735568
NCBI chr15:90,083,045...90,102,468
Ensembl chr15:90,083,045...90,102,477
G
JAK2
Janus kinase 2
severity
IEP
protein:increased phosphorylation:esophagus squamous epithelium (human)
RGD
PMID:32158193
RGD:127285669
NCBI chr 9:4,984,390...5,129,948
Ensembl chr 9:4,984,390...5,129,948
G
JUNB
JunB proto-oncogene, AP-1 transcription factor subunit
exacerbates
IEP
protein:increased expression:esophagus (human)
RGD
PMID:30227324 PMID:19758438
RGD:151347669 , RGD:151347672
NCBI chr19:12,791,486...12,793,315
Ensembl chr19:12,791,486...12,793,315
G
KAT2B
lysine acetyltransferase 2B
IEP
mRNA:decreased expression:esophagus (human)
RGD
PMID:19525977
RGD:9590307
NCBI chr 3:20,040,446...20,154,404
Ensembl chr 3:20,040,446...20,154,404
G
KDM4C
lysine demethylase 4C
severity susceptibility
IEP IAGP
protein:increased expression:esophageal epithelium, nucleus (human) DNA:snp:intron:IVS8-3292G>A (rs1340513) (human)
RGD
PMID:24224128 PMID:15805246
RGD:9587746 , RGD:9587752
NCBI chr 9:6,720,863...7,175,648
Ensembl chr 9:6,720,863...7,175,648
G
KDM5B
lysine demethylase 5B
severity
IEP
protein:increased expression:esophageal mucosa, cytoplasm (human)
RGD
PMID:22534467
RGD:9587776
NCBI chr 1:202,724,495...202,808,421
Ensembl chr 1:202,724,495...202,808,487
G
KDM6A
lysine demethylase 6A
ameliorates
IAGP IEP EXP
DNA:mutations:multiple (human) mRNA:increased expression:esophagus (human) protein:increased expression:esophagus (human) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:25151357 PMID:25151357 PMID:31804468 PMID:29351209
RGD:9588233 , RGD:150429742 , RGD:150429739
NCBI chr X:44,873,188...45,112,779
Ensembl chr X:44,873,188...45,112,779
G
KMT2C
lysine methyltransferase 2C
IAGP EXP
DNA:mutations:multiple (human) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:25151357 PMID:25151357
RGD:9588233
NCBI chr 7:152,134,925...152,436,003
Ensembl chr 7:152,134,922...152,436,644
G
KMT2D
lysine methyltransferase 2D
IAGP IEP EXP
DNA:mutations:multiple (human) mRNA:increased expression:esophagus CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:25151357 PMID:25151357 PMID:29532228
RGD:9588233 , RGD:150521712
NCBI chr12:49,018,978...49,060,794
Ensembl chr12:49,018,975...49,060,794
G
KRT13
keratin 13
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:21517111
NCBI chr17:41,500,981...41,505,612
Ensembl chr17:41,500,981...41,505,705
G
KRT14
keratin 14
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:16543248
NCBI chr17:41,582,279...41,586,895
Ensembl chr17:41,582,279...41,586,895
G
KRT16
keratin 16
ISO
RGD
PMID:8950218
RGD:633113
NCBI chr17:41,609,778...41,612,767
Ensembl chr17:41,609,778...41,615,899
G
KRT17
keratin 17
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:21517111
NCBI chr17:41,619,442...41,624,575
Ensembl chr17:41,619,442...41,624,842
G
KRT19
keratin 19
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:21517111
NCBI chr17:41,523,617...41,528,308
Ensembl chr17:41,523,617...41,528,308
G
KRT7
keratin 7
disease_progression
IEP
RGD
PMID:29788741
RGD:151665759
NCBI chr12:52,233,243...52,255,853
Ensembl chr12:52,232,520...52,252,186
G
LOXL2
lysyl oxidase like 2
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:24716982
NCBI chr 8:23,296,897...23,404,120
Ensembl chr 8:23,296,897...23,425,328
G
LTA
lymphotoxin alpha
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:29379198
NCBI chr 6:31,560,610...31,574,324
Ensembl chr 6:31,572,054...31,574,324
G
LZTS1
leucine zipper tumor suppressor 1
IAGP
ClinVar Annotator: match by term: LZTS1-related condition ClinVar Annotator: match by term: Esophageal squamous cell carcinoma, somatic
OMIM ClinVar
PMID:10097140 PMID:25741868 PMID:26504261 PMID:28492532
NCBI chr 8:20,246,165...20,303,963
Ensembl chr 8:20,246,165...20,303,963
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MAD2L1
mitotic arrest deficient 2 like 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:18691855
NCBI chr 4:120,055,623...120,066,848
Ensembl chr 4:120,055,623...120,066,858
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MALAT1
metastasis associated lung adenocarcinoma transcript 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:25538231
NCBI chr11:65,497,738...65,506,516
Ensembl chr11:65,497,606...65,508,073
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MAP3K1
mitogen-activated protein kinase kinase kinase 1
sexual_dimorphism
IAGP
DNA:missense mutation, SNP:CDS, exon 14, 3'-UTR: (rs702689,rs702688) (human)
RGD
PMID:32753933
RGD:150573717
NCBI chr 5:56,815,549...56,896,152
Ensembl chr 5:56,815,549...56,896,152
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MBD4
methyl-CpG binding domain 4, DNA glycosylase
susceptibility
IAGP
DNA:snp:cds:p.E346K (rs140693) (human) DNA:snp:intron:IVS5-140A>G (rs3138355) (human)
RGD
PMID:15205355 PMID:25162968
RGD:9588976 , RGD:9588980
NCBI chr 3:129,430,947...129,439,948
Ensembl chr 3:129,430,947...129,440,179
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MGMT
O-6-methylguanine-DNA methyltransferase
disease_progression
EXP IDA
CTD Direct Evidence: marker/mechanism DNA, protein:hypermethylation, decreased expression:promoter, esophagus
CTD RGD
PMID:25520135 PMID:21674174
RGD:126790574
NCBI chr10:129,467,241...129,770,983
Ensembl chr10:129,467,190...129,770,983
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MIR10A
microRNA 10a
IEP
miRNA:increased expression:esophagus squamous epithelium (human)
RGD
PMID:32997362
RGD:153323343
NCBI chr17:48,579,838...48,579,947
Ensembl chr17:48,579,838...48,579,947
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MIR127
microRNA 127
IEP
RNA:decreased expression:esophagus (human)
RGD
PMID:27645894
RGD:152995354
NCBI chr14:100,882,979...100,883,075
Ensembl chr14:100,882,979...100,883,075
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MIR193A
microRNA 193a
exacerbates
IEP
miRNA:decreased expression:esophagus (human)
RGD
PMID:27203740
RGD:153323341
NCBI chr17:31,559,996...31,560,083
Ensembl chr17:31,559,996...31,560,083
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MIR217
microRNA 217
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:25538231
NCBI chr 2:55,982,967...55,983,076
Ensembl chr 2:55,982,967...55,983,076
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MIR31
microRNA 31
ameliorates
ISO IEP
RGD
PMID:32123074 PMID:21658006
RGD:127285381 , RGD:152998938
NCBI chr 9:21,512,115...21,512,185
Ensembl chr 9:21,512,115...21,512,185
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MIR31HG
MIR31 host gene
disease_progression
IEP
RNA:increased expression:blood plasma, esophagus squamous epithelium (human)
RGD
PMID:29605445
RGD:153297774
NCBI chr 9:21,454,268...21,559,798
Ensembl chr 9:21,364,605...21,591,906
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MIR423
microRNA 423
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:24205249
NCBI chr17:30,117,079...30,117,172
Ensembl chr17:30,117,079...30,117,172
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MIR432
microRNA 432
IEP
mRNA:increased expression:esophagus (human)
RGD
PMID:28760781
RGD:153002560
NCBI chr14:100,884,483...100,884,576
Ensembl chr14:100,884,483...100,884,576
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MIR4458
microRNA 4458
IEP
RNA:decreased expression:esophagus squamous epithelium (human)
RGD
PMID:32449803
RGD:153345544
NCBI chr 5:8,460,925...8,460,999
Ensembl chr 5:8,460,925...8,460,999
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MIR494
microRNA 494
IEP
mRNA:decreased expression:esophagus
RGD
PMID:25480402
RGD:150530497
NCBI chr14:101,029,634...101,029,714
Ensembl chr14:101,029,634...101,029,714
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MLH1
mutL homolog 1
disease_progression
IDA
DNA, protein:hypermethylation, decreased expression:promoter, esophagus
RGD
PMID:21674174
RGD:126790574
NCBI chr 3:36,993,466...37,050,846
Ensembl chr 3:36,993,226...37,050,896
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MMP14
matrix metallopeptidase 14
IEP
protein:increased expression: esophagus
RGD
PMID:24789592
RGD:152600903
NCBI chr14:22,836,585...22,847,758
Ensembl chr14:22,836,560...22,849,041
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MMP2
matrix metallopeptidase 2
IEP
protein:increased activity: esophagus
RGD
PMID:24789592
RGD:152600903
NCBI chr16:55,478,830...55,506,691
Ensembl chr16:55,389,700...55,506,691
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MMP9
matrix metallopeptidase 9
IEP
protein:increased activity: esophagus
RGD
PMID:24789592
RGD:152600903
NCBI chr20:46,008,908...46,016,561
Ensembl chr20:46,008,908...46,016,561
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MSH2
mutS homolog 2
disease_progression
IDA
DNA, protein:hypermethylation, decreased expression:promoter, esophagus DNA, protein:hypermethylation, decreased expression:esophagus
RGD
PMID:22265839 PMID:21674174 PMID:24366688
RGD:126790560 , RGD:126790574 , RGD:126790573
NCBI chr 2:47,403,067...47,709,830
Ensembl chr 2:47,403,067...47,663,146
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MT1X
metallothionein 1X
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16543248
NCBI chr16:56,682,470...56,684,196
Ensembl chr16:56,682,470...56,684,196
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NFE2L2
NFE2 like bZIP transcription factor 2
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:25151357
NCBI chr 2:177,230,303...177,264,727
Ensembl chr 2:177,218,667...177,392,756
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NOTCH1
notch receptor 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:25151357
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
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:25151357
NCBI chr 1:119,911,553...120,069,662
Ensembl chr 1:119,911,553...120,100,779
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NOTCH3
notch receptor 3
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:25151357
NCBI chr19:15,159,038...15,200,995
Ensembl chr19:15,159,038...15,200,995
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OGG1
8-oxoguanine DNA glycosylase
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:38467300
NCBI chr 3:9,749,952...9,783,108
Ensembl chr 3:9,749,944...9,788,219
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PAGR1
PAXIP1 associated glutamate rich protein 1
IEP
mRNA, protein:decreased expression:esophagus (human)
RGD
PMID:33833989
RGD:153344568
NCBI chr16:29,816,152...29,822,489
Ensembl chr16:29,816,152...29,822,489
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PBX3
PBX homeobox 3
IEP
RNA:increased expression:esophagus squamous epithelium (human)
RGD
PMID:32449803
RGD:153345544
NCBI chr 9:125,747,373...125,967,377
Ensembl chr 9:125,747,345...125,967,377
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PFN1
profilin 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:21517111
NCBI chr17:4,945,652...4,948,530
Ensembl chr17:4,945,652...4,949,061
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PLCE1
phospholipase C epsilon 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:20729852 PMID:20729853
NCBI chr10:93,993,931...94,332,823
Ensembl chr10:93,993,931...94,332,823
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PRDX1
peroxiredoxin 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:21517111
NCBI chr 1:45,511,051...45,522,890
Ensembl chr 1:45,510,914...45,542,732
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PSMB9
proteasome 20S subunit beta 9
disease_progression
IEP
RGD
PMID:19492245
RGD:6482249
NCBI chr 6:32,854,192...32,859,851
Ensembl chr 6:32,844,136...32,860,734
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PSME1
proteasome activator subunit 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:21517111
NCBI chr14:24,136,194...24,138,962
Ensembl chr14:24,136,163...24,138,967
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PSME2
proteasome activator subunit 2
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:21517111
NCBI chr14:24,143,365...24,146,610
Ensembl chr14:24,143,362...24,147,570
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PTCH1
patched 1
disease_progression
IEP
RGD
PMID:16475698
RGD:150523841
NCBI chr 9:95,442,980...95,516,971
Ensembl chr 9:95,442,980...95,517,057
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PTGS2
prostaglandin-endoperoxide synthase 2
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:15756444 PMID:16543248 PMID:18197933
NCBI chr 1:186,671,791...186,680,423
Ensembl chr 1:186,671,791...186,680,922
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PTPRT
protein tyrosine phosphatase receptor type T
susceptibility
IAGP
DNA:SNPs:3'utr: (rs2866943 , rs6029959 ) (human)
RGD
PMID:25967969
RGD:150520191
NCBI chr20:42,031,890...43,189,906
Ensembl chr20:42,072,752...43,189,970
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RB1
RB transcriptional corepressor 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:25151357
NCBI chr13:48,303,751...48,481,890
Ensembl chr13:48,303,744...48,599,436
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RICTOR
RPTOR independent companion of MTOR complex 2
disease_progression severity
IMP IEP
human cells in mouse model protein:increased expression:esophagus (human)
RGD
PMID:30119206 PMID:32642408 PMID:28132115
RGD:152995460 , RGD:152995512 , RGD:152995470
NCBI chr 5:38,937,920...39,074,399
Ensembl chr 5:38,937,920...39,074,402
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RNF6
ring finger protein 6
IAGP
ClinVar Annotator: match by term: Esophageal squamous cell carcinoma, somatic
OMIM ClinVar
PMID:12154016
NCBI chr13:26,132,115...26,223,085
Ensembl chr13:26,132,115...26,222,314
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RUNX1
RUNX family transcription factor 1
IAGP
DNA:SNP: :rs2014300 (human)
RGD
PMID:30666517
RGD:126775149
NCBI chr21:34,787,801...35,049,302
Ensembl chr21:34,787,801...36,004,667
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RUNX2
RUNX family transcription factor 2
IEP
mRNA:increased expression:esophagus mucosa
RGD
PMID:18500170
RGD:126779568
NCBI chr 6:45,328,330...45,551,082
Ensembl chr 6:45,328,157...45,664,349
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RUNX3
RUNX family transcription factor 3
disease_progression
IEP
mRNA:decreased expression:esophagus mucosa
RGD
PMID:18500170
RGD:126779568
NCBI chr 1:24,899,511...24,965,138
Ensembl chr 1:24,899,511...24,965,121
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SALL4
spalt like transcription factor 4
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:30431698
NCBI chr20:51,782,331...51,802,521
Ensembl chr20:51,782,331...51,802,521
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SERPINB3
serpin family B member 3
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:21517111
NCBI chr18:63,655,197...63,661,893
Ensembl chr18:63,655,197...63,661,893
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SETD5
SET domain containing 5
disease_progression
IEP
RGD
PMID:31981592
RGD:155804254
NCBI chr 3:9,397,615...9,478,154
Ensembl chr 3:9,397,615...9,479,240
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SFN
stratifin
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:21517111
NCBI chr 1:26,863,149...26,864,456
Ensembl chr 1:26,863,149...26,864,456
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SLC16A10
solute carrier family 16 member 10
IEP
protein:increased expression:esophagus
RGD
PMID:33609949
RGD:151361149
NCBI chr 6:111,087,503...111,231,194
Ensembl chr 6:111,087,503...111,231,194
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SLC1A5
solute carrier family 1 member 5
disease_progression
IEP
protein:increased expression:esophagus
RGD
PMID:33609949 PMID:26936531
RGD:151361149 , RGD:11532833
NCBI chr19:46,774,883...46,788,594
Ensembl chr19:46,774,883...46,788,594
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SLC39A6
solute carrier family 39 member 6
EXP
CTD Direct Evidence: therapeutic
CTD
PMID:23644492
NCBI chr18:36,108,531...36,129,340
Ensembl chr18:36,108,531...36,129,385
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SLC52A3
solute carrier family 52 member 3
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:20729853
NCBI chr20:760,080...780,033
Ensembl chr20:760,080...776,015
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SLC7A5
solute carrier family 7 member 5
disease_progression
IEP
protein:increased expression:esophagus
RGD
PMID:31726270 PMID:26936531 PMID:33609949
RGD:151361144 , RGD:11532833 , RGD:151361149
NCBI chr16:87,830,023...87,869,507
Ensembl chr16:87,830,016...87,869,507
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SOCS1
suppressor of cytokine signaling 1
severity treatment
IEP ISO
mRNA:decreased expression:esophagus
RGD
PMID:21385099 PMID:31728180 PMID:28233302
RGD:150573691 , RGD:150573815 , RGD:150573812
NCBI chr16:11,254,417...11,256,204
Ensembl chr16:11,254,417...11,256,204
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SOD2
superoxide dismutase 2
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:18167182 PMID:21517111
NCBI chr 6:159,669,069...159,762,281
Ensembl chr 6:159,669,069...159,762,529
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SOX2
SRY-box transcription factor 2
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:19801978
NCBI chr 3:181,711,925...181,714,436
Ensembl chr 3:181,711,925...181,714,436
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SPEN
spen family transcriptional repressor
IAGP
associated with Neoplasm Metastasis; DNA:mutations
RGD
PMID:33363385
RGD:151347445
NCBI chr 1:15,847,707...15,940,456
Ensembl chr 1:15,836,095...15,940,456
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STIM1
stromal interaction molecule 1
exacerbates
HEP
protein:increased expression:esophagus (human)
RGD
PMID:31843504
RGD:152995393
NCBI chr11:3,854,604...4,093,210
Ensembl chr11:3,854,527...4,093,210
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STING1
stimulator of interferon response cGAMP interactor 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:25129146
NCBI chr 5:139,475,533...139,482,758
Ensembl chr 5:139,475,533...139,482,935
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SULT1A1
sulfotransferase family 1A member 1
IAGP
DNA:SNP:exon:p.R213H, 638G>A (human)
RGD
PMID:12455060
RGD:1581448
NCBI chr16:28,605,258...28,623,375
Ensembl chr16:28,605,196...28,610,044
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TAGLN
transgelin
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:21517111
NCBI chr11:117,199,294...117,207,465
Ensembl chr11:117,199,370...117,207,464
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TAP1
transporter 1, ATP binding cassette subfamily B member
IEP
protein:decreased expression:esophagus
RGD
PMID:19492245
RGD:6482249
NCBI chr 6:32,845,209...32,853,704
Ensembl chr 6:32,845,209...32,853,816
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TAP2
transporter 2, ATP binding cassette subfamily B member
IEP
protein:decreased expression:esophagus
RGD
PMID:19492245
RGD:6482249
NCBI chr 6:32,821,831...32,838,739
Ensembl chr 6:32,821,833...32,838,739
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TCN2
transcobalamin 2
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:29379198
NCBI chr22:30,607,174...30,627,271
Ensembl chr22:30,607,003...30,627,271
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TERT
telomerase reverse transcriptase
susceptibility no_association
IAGP IEP
DNA:SNPs: : rs2853691,rs2736100(human) mRNA:increased expression:esophagus squamous epithelium: DNA:SNP: :rs2736098(human)
RGD
PMID:26716642 PMID:15112252 PMID:25007268
RGD:11572962 , RGD:152977757 , RGD:150530488
NCBI chr 5:1,253,167...1,295,068
Ensembl chr 5:1,253,147...1,295,068
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TET2
tet methylcytosine dioxygenase 2
severity
IEP IAGP
mRNA:decreased expression:esophagus squamous epithelium (human) associated with Lymphatic Metastasis;mRNA:decreased expression:esophagus squamous epithelium (human) DNA:mutations
RGD
PMID:26093090 PMID:27050164 PMID:26873401
RGD:11528815 , RGD:150429668 , RGD:150429656
NCBI chr 4:105,145,875...105,279,803
Ensembl chr 4:105,145,875...105,279,816
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TET3
tet methylcytosine dioxygenase 3
IEP
mRNA:decreased expression:esophagus squamous epithelium (human)
RGD
PMID:27050164
RGD:150429668
NCBI chr 2:73,983,631...74,135,498
Ensembl chr 2:73,984,910...74,108,177
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TGFBR2
transforming growth factor beta receptor 2
IAGP
OMIM
NCBI chr 3:30,606,356...30,694,142
Ensembl chr 3:30,606,478...30,694,249
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TNFAIP3
TNF alpha induced protein 3
severity
IEP
mRNA,protein:increased expression:esophagus squamous epithelium (human)
RGD
PMID:28197630
RGD:151347617
NCBI chr 6:137,866,349...137,883,312
Ensembl chr 6:137,867,214...137,883,314
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TNFAIP8
TNF alpha induced protein 8
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:21969086
NCBI chr 5:119,268,759...119,399,688
Ensembl chr 5:119,268,692...119,399,688
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TNXB
tenascin XB
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:29379198
NCBI chr 6:32,041,153...32,109,338
Ensembl chr 6:32,041,153...32,115,334
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TP53
tumor protein p53
IAGP EXP ISO
DNA:misssense mutation: :p.R72P (rs1042522) (human) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:16543248 PMID:25151357 PMID:28789369
RGD:14995932
NCBI chr17:7,668,421...7,687,490
Ensembl chr17:7,661,779...7,687,546
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TPI1
triosephosphate isomerase 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:21517111
NCBI chr12:6,867,420...6,870,948
Ensembl chr12:6,867,119...6,870,948
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TPM1
tropomyosin 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:21517111
NCBI chr15:63,042,747...63,071,915
Ensembl chr15:63,042,620...63,071,915
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TPM2
tropomyosin 2
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:21517111
NCBI chr 9:35,681,993...35,690,056
Ensembl chr 9:35,681,992...35,690,056
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TXNDC17
thioredoxin domain containing 17
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:21517111
NCBI chr17:6,641,060...6,644,541
Ensembl chr17:6,640,985...6,644,541
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TYMP
thymidine phosphorylase
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:11641616
NCBI chr22:50,525,752...50,530,085
Ensembl chr22:50,525,752...50,530,032
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USP8
ubiquitin specific peptidase 8
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:35022897
NCBI chr15:50,424,405...50,514,421
Ensembl chr15:50,424,380...50,514,421
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VENTX
VENT homeobox
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:30431698
NCBI chr10:133,237,855...133,241,928
Ensembl chr10:133,237,855...133,241,928
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WRAP53
WD repeat containing antisense to TP53
disease_progression
IEP
RGD
PMID:24626331
RGD:21081532
NCBI chr17:7,686,071...7,703,502
Ensembl chr17:7,686,071...7,703,502
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WWOX
WW domain containing oxidoreductase
IAGP EXP
esophageal squamous cell carcinoma, OMIM:133239 ClinVar Annotator: match by term: Esophageal squamous cell carcinoma ClinVar Annotator: match by term: Esophageal squamous cell carcinoma, somatic CTD Direct Evidence: marker/mechanism
ClinVar OMIM CTD RGD
PMID:11956080 PMID:16199547 PMID:24456803 PMID:25411445 PMID:25526675 PMID:25558065 PMID:25741868 PMID:27717089 PMID:28492532 PMID:29852413 PMID:11956080 More...
RGD:1599874
NCBI chr16:78,099,654...79,212,667
Ensembl chr16:78,099,400...79,212,667
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XPO1
exportin 1
exacerbates
IEP
mRNA, protein:increased expression:epithelium of esophagus (human) protein:increased expression:esophagus (human)
RGD
PMID:24898882 PMID:25148895
RGD:151667431 , RGD:151667436
NCBI chr 2:61,477,849...61,538,612
Ensembl chr 2:61,476,032...61,538,741
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XRCC1
X-ray repair cross complementing 1
no_association susceptibility treatment
EXP IAGP
CTD Direct Evidence: marker/mechanism DNA:missense mutation:cds: p.R399Q (human) DNA:SNPs,haplotypes:multiple (human) DNA:SNPs:exon 6, exon 9, exon 10:multiple (human)
CTD RGD
PMID:16639733 PMID:11400117 PMID:25710005 PMID:27123143 PMID:28356949
RGD:151347444 , RGD:150530501 , RGD:150530634 , RGD:150530505
NCBI chr19:43,543,311...43,575,527
Ensembl chr19:43,543,311...43,580,473
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ZCCHC12
zinc finger CCHC-type containing 12
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:30431698
NCBI chr X:118,823,824...118,826,968
Ensembl chr X:118,823,824...118,826,968
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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: Ferguson-Smith type epithelioma 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:9536098 PMID:10025408 PMID:16596670 PMID:16791849 PMID:16799921 PMID:16928994 PMID:17576681 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:30739908 PMID:31915033 PMID:33256177 PMID:33824467 PMID:35092149 PMID:36237225 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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KRT16
keratin 16
IAGP
ClinVar Annotator: match by term: Palmoplantar keratoderma, nonepidermolytic, focal
ClinVar
PMID:8595410 PMID:16250206 PMID:22336941 PMID:24611874 PMID:25741868 PMID:28492532 PMID:31823354 More...
NCBI chr17:41,609,778...41,612,767
Ensembl chr17:41,609,778...41,615,899
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KRT6C
keratin 6C
IAGP
ClinVar Annotator: match by term: Focal palmoplantar keratoderma
ClinVar
PMID:19609311
NCBI chr12:52,468,516...52,473,805
Ensembl chr12:52,468,516...52,473,805
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SPATA22
spermatogenesis associated 22
IAGP
ClinVar Annotator: match by term: Isolated focal non-epidermolytic palmoplantar keratoderma
ClinVar
PMID:25741868
NCBI chr17:3,440,019...3,513,858
Ensembl chr17:3,440,019...3,513,852
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TRPV3
transient receptor potential cation channel subfamily V member 3
IAGP
ClinVar Annotator: match by term: Isolated focal non-epidermolytic palmoplantar keratoderma
ClinVar
PMID:9536098 PMID:17576681 PMID:21285946 PMID:24452206 PMID:25285920 PMID:25741868 PMID:28492532 PMID:28587736 More...
NCBI chr17:3,510,502...3,557,812
Ensembl chr17:3,510,502...3,557,812
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KRT16
keratin 16
IAGP
ClinVar Annotator: match by term: Palmoplantar keratoderma, nonepidermolytic, focal 1
OMIM ClinVar
PMID:8595410 PMID:16250206 PMID:22336941 PMID:22668561 PMID:24491404 PMID:24611874 PMID:25741868 PMID:28492532 PMID:31823354 More...
NCBI chr17:41,609,778...41,612,767
Ensembl chr17:41,609,778...41,615,899
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TRPV3
transient receptor potential cation channel subfamily V member 3
IAGP
ClinVar Annotator: match by term: Palmoplantar keratoderma, nonepidermolytic, focal 2 | ClinVar Annotator: match by term: TRPV3-related condition
OMIM ClinVar
PMID:25741868 PMID:28492532
NCBI chr17:3,510,502...3,557,812
Ensembl chr17:3,510,502...3,557,812
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WRAP53
WD repeat containing antisense to TP53
disease_progression
IEP
RGD
PMID:28849066
RGD:21081521
NCBI chr17:7,686,071...7,703,502
Ensembl chr17:7,686,071...7,703,502
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ABCB1
ATP binding cassette subfamily B member 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:25275603
NCBI chr 7:87,503,017...87,713,295
Ensembl chr 7:87,503,017...87,713,323
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ABCC1
ATP binding cassette subfamily C member 1 (ABCC1 blood group)
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:25275603
NCBI chr16:15,949,143...16,143,053
Ensembl chr16:15,949,138...16,143,257
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ABCC2
ATP binding cassette subfamily C member 2
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:25275603
NCBI chr10:99,782,640...99,852,594
Ensembl chr10:99,782,640...99,852,594
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ABCG2
ATP binding cassette subfamily G member 2 (JR blood group)
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:25275603
NCBI chr 4:88,090,264...88,231,626
Ensembl chr 4:88,090,150...88,231,628
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ABL1
ABL proto-oncogene 1, non-receptor tyrosine kinase
IAGP
ClinVar Annotator: match by term: Lip and oral cavity carcinoma
ClinVar
PMID:31775759
NCBI chr 9:130,713,043...130,887,675
Ensembl chr 9:130,713,043...130,887,675
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ACOD1
aconitate decarboxylase 1
IEP
mRNA:increased expression:cranioceervical (human)
RGD
PMID:37793345
RGD:596992333
NCBI chr13:76,948,511...76,958,638
Ensembl chr13:76,948,511...76,958,638
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AKT1
AKT serine/threonine kinase 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:23873848
NCBI chr14:104,769,349...104,795,748
Ensembl chr14:104,769,349...104,795,759
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ANKRD17
ankyrin repeat domain 17
IAGP
ClinVar Annotator: match by term: Lip and oral cavity carcinoma
ClinVar
PMID:28580594
NCBI chr 4:73,073,376...73,258,798
Ensembl chr 4:73,073,376...73,258,798
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ATP7B
ATPase copper transporting beta
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:12509969
NCBI chr13:51,932,669...52,012,132
Ensembl chr13:51,930,436...52,012,125
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B2M
beta-2-microglobulin
IAGP
ClinVar Annotator: match by term: Head and neck squamous cell carcinoma | ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck
ClinVar
PMID:26619011
NCBI chr15:44,711,517...44,718,145
Ensembl chr15:44,711,358...44,718,851
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BIRC2
baculoviral IAP repeat containing 2
exacerbates
HEP
mRNA:increased expression:head or neck skin (human)
RGD
PMID:31964418
RGD:153344516
NCBI chr11:102,347,214...102,378,670
Ensembl chr11:102,347,211...102,378,670
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BIRC3
baculoviral IAP repeat containing 3
ameliorates
HEP
mRNA:increased expression:head or neck skin (human)
RGD
PMID:31964418
RGD:153344516
NCBI chr11:102,317,484...102,339,403
Ensembl chr11:102,317,484...102,339,403
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BRAF
B-Raf proto-oncogene, serine/threonine kinase
IAGP
ClinVar Annotator: match by term: Lip and oral cavity carcinoma
ClinVar
PMID:31775759
NCBI chr 7:140,713,328...140,924,929
Ensembl chr 7:140,719,327...140,924,929
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CASP8
caspase 8
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:23358896
NCBI chr 2:201,233,463...201,287,711
Ensembl chr 2:201,233,443...201,361,836
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CCDC3
coiled-coil domain containing 3
IAGP
ClinVar Annotator: match by term: Lip and oral cavity carcinoma
ClinVar
PMID:26614431
NCBI chr10:12,896,625...13,099,989
Ensembl chr10:12,896,625...13,099,652
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CCNA1
cyclin A1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:23358896 PMID:29464035
NCBI chr13:36,431,517...36,442,870
Ensembl chr13:36,431,520...36,442,870
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CCNA2
cyclin A2
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:29464035
NCBI chr 4:121,816,444...121,823,883
Ensembl chr 4:121,816,444...121,823,883
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CCNB1
cyclin B1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:29464035
NCBI chr 5:69,167,150...69,178,245
Ensembl chr 5:69,167,135...69,178,245
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CCND1
cyclin D1
disease_progression
IAGP EXP
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:26909611 PMID:29464035 PMID:9796972
RGD:13434911
NCBI chr11:69,641,156...69,654,474
Ensembl chr11:69,641,156...69,654,474
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CCNE1
cyclin E1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:29464035
NCBI chr19:29,811,991...29,824,312
Ensembl chr19:29,811,991...29,824,312
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CCNE2
cyclin E2
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:29464035
NCBI chr 8:94,880,224...94,896,693
Ensembl chr 8:94,879,770...94,896,678
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CDC73
cell division cycle 73
exacerbates
IEP
protein:increased expression:squamous epithelium (human)
RGD
PMID:26124004
RGD:11065919
NCBI chr 1:193,122,031...193,254,815
Ensembl chr 1:193,121,983...193,254,815
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CDK2
cyclin dependent kinase 2
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:29464035
NCBI chr12:55,966,830...55,972,789
Ensembl chr12:55,966,781...55,972,789
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CDK4
cyclin dependent kinase 4
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:29464035
NCBI chr12:57,747,727...57,752,310
Ensembl chr12:57,747,727...57,756,013
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CDK6
cyclin dependent kinase 6
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:29464035
NCBI chr 7:92,604,921...92,836,573
Ensembl chr 7:92,604,921...92,836,573
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CDKN2A
cyclin dependent kinase inhibitor 2A
disease_progression
IAGP EXP
DNA:SNPs: :rs3731217, rs3088440 (human) ClinVar Annotator: match by term: Lip and oral cavity carcinoma CTD Direct Evidence: marker/mechanism
ClinVar CTD RGD
PMID:7718873 PMID:8153634 PMID:8668202 PMID:9166859 PMID:11687599 PMID:15146471 PMID:16374456 PMID:16818274 PMID:16905682 PMID:18205010 PMID:18519632 PMID:21801156 PMID:24991542 PMID:25741868 PMID:26192916 PMID:26681309 PMID:26909611 PMID:27756164 PMID:27960642 PMID:28492532 PMID:28765326 PMID:29915805 PMID:31382929 PMID:31775759 PMID:21381012 More...
RGD:8552291
NCBI chr 9:21,967,752...21,995,324
Ensembl chr 9:21,967,752...21,995,301
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CHD4
chromodomain helicase DNA binding protein 4
HEP
mRNA:increased expression:head or neck skin (human)
RGD
PMID:28486105
RGD:153323299
NCBI chr12:6,570,082...6,607,379
Ensembl chr12:6,570,082...6,614,524
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CLDN1
claudin 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:33665778
NCBI chr 3:190,305,707...190,322,446
Ensembl chr 3:190,305,707...190,322,446
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CNTN4
contactin 4
IAGP
ClinVar Annotator: match by term: Lip and oral cavity carcinoma
ClinVar
PMID:28595731
NCBI chr 3:2,098,866...3,057,959
Ensembl chr 3:2,098,813...3,057,959
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CREBBP
CREB binding protein
IAGP
ClinVar Annotator: match by term: Head and neck squamous cell carcinoma | ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck
ClinVar
PMID:21390126 PMID:21680795 PMID:21796119 PMID:22832583 PMID:23334668 PMID:23685749 PMID:23778141 PMID:25741868 PMID:26087898 PMID:26619011 PMID:27257180 PMID:28492532 PMID:28970362 PMID:29551561 PMID:33560380 More...
NCBI chr16:3,725,054...3,880,713
Ensembl chr16:3,725,054...3,880,713
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CTNNB1
catenin beta 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:34019859
NCBI chr 3:41,199,505...41,240,443
Ensembl chr 3:41,194,741...41,260,096
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CYP2C19
cytochrome P450 family 2 subfamily C member 19
treatment
IAGP
DNA:polymorphisms: :CYP2C19*2(human)
RGD
PMID:19954746
RGD:401901267
NCBI chr10:94,762,681...94,855,547
Ensembl chr10:94,762,681...94,855,547
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CYP2C9
cytochrome P450 family 2 subfamily C member 9
treatment
IAGP
DNA:polymorphisms: :CYP2C9*2(human)
RGD
PMID:19954746
RGD:401901267
NCBI chr10:94,938,658...94,990,091
Ensembl chr10:94,938,658...94,990,091
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CYP2D6
cytochrome P450 family 2 subfamily D member 6 (gene/pseudogene)
treatment
IAGP
DNA:polymorphisms: :CYP2D6*4,CYP2D6*10(human)
RGD
PMID:19954746
RGD:401901267
NCBI chr22:42,126,499...42,130,810
Ensembl chr22:42,126,499...42,130,865
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DDR2
discoidin domain receptor tyrosine kinase 2
severity
IEP
RGD
PMID:24556606
RGD:150429746
NCBI chr 1:162,630,863...162,787,405
Ensembl chr 1:162,631,373...162,787,405
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DNMT3B
DNA methyltransferase 3 beta
susceptibility
IAGP
DNA:SNP,haplotype:promoter:-149C>T,-579G>T(human)
RGD
PMID:18455294
RGD:9589078
NCBI chr20:32,762,385...32,809,356
Ensembl chr20:32,762,385...32,809,359
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EGFR
epidermal growth factor receptor
IAGP
ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck ClinVar Annotator: match by term: Head and neck squamous cell carcinoma ClinVar Annotator: match by term: Lip and oral cavity carcinoma
ClinVar
PMID:15118073 PMID:15118125 PMID:15788655 PMID:17285735 PMID:19060236 PMID:19096301 PMID:22980975 PMID:23242437 PMID:23358982 PMID:23371856 PMID:24712396 PMID:24788590 PMID:25130612 PMID:25382819 PMID:25741868 PMID:25969368 PMID:26101090 PMID:26619011 PMID:28492532 PMID:28874603 PMID:29576263 PMID:29945477 PMID:31775759 PMID:33644199 PMID:33898318 PMID:34555730 PMID:36698436 PMID:38729783 PMID:38868164 More...
NCBI chr 7:55,019,017...55,211,628
Ensembl chr 7:55,019,017...55,211,628
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EGFR-AS1
EGFR antisense RNA 1
IAGP
ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck
ClinVar
PMID:17285735 PMID:19060236 PMID:19096301 PMID:22980975 PMID:23242437 PMID:23358982 PMID:23371856 PMID:24712396 PMID:24788590 PMID:25130612 PMID:25382819 PMID:25741868 PMID:25969368 PMID:26101090 PMID:28492532 PMID:28874603 PMID:29576263 PMID:29945477 PMID:33644199 PMID:33898318 PMID:34555730 PMID:36698436 PMID:38729783 PMID:38868164 More...
NCBI chr 7:55,179,750...55,188,949
Ensembl chr 7:55,179,750...55,212,969
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ERBB2
erb-b2 receptor tyrosine kinase 2
disease_progression
IEP
RGD
PMID:20604875
RGD:126790467
NCBI chr17:39,688,094...39,728,658
Ensembl chr17:39,687,914...39,730,426
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ERBB4
erb-b2 receptor tyrosine kinase 4
severity
IEP
RGD
PMID:20604875
RGD:126790467
NCBI chr 2:211,375,717...212,538,802
Ensembl chr 2:211,375,717...212,538,841
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FANCB
FA complementation group B
IDA
DNA:hypermethylation:promoter
RGD
PMID:20332657
RGD:11344903
NCBI chr X:14,689,524...14,873,069
Ensembl chr X:14,690,388...14,873,255
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FANCD2
FA complementation group D2
ISO
RGD
PMID:20935219
RGD:11344907
NCBI chr 3:10,026,437...10,101,932
Ensembl chr 3:10,026,370...10,101,932
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FGFR4
fibroblast growth factor receptor 4
severity
IAGP
DNA:SNP:exon 9: p.G388R (human)
RGD
PMID:17084840
RGD:150520023
NCBI chr 5:177,086,915...177,098,144
Ensembl chr 5:177,086,905...177,098,144
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FHIT
fragile histidine triad diadenosine triphosphatase
IAGP
ClinVar Annotator: match by term: Lip and oral cavity carcinoma
ClinVar
PMID:28580594
NCBI chr 3:59,747,277...61,251,452
Ensembl chr 3:59,747,277...61,251,459
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GRIK2
glutamate ionotropic receptor kainate type subunit 2
IAGP
ClinVar Annotator: match by term: Lip and oral cavity carcinoma
ClinVar
PMID:26614431
NCBI chr 6:101,393,708...102,070,083
Ensembl chr 6:100,962,701...102,081,622
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HOXA5
homeobox A5
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:22227861
NCBI chr 7:27,141,052...27,143,681
Ensembl chr 7:27,141,052...27,143,681
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HOXD10
homeobox D10
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:22227861
NCBI chr 2:176,116,778...176,119,937
Ensembl chr 2:176,108,790...176,119,937
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HOXD11
homeobox D11
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:22227861
NCBI chr 2:176,107,280...176,115,679
Ensembl chr 2:176,104,216...176,109,754
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HRAS
HRas proto-oncogene, GTPase
IAGP
ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck ClinVar Annotator: match by term: Lip and oral cavity carcinoma
ClinVar
PMID:2105486 PMID:11150980 PMID:12727991 PMID:12835555 PMID:16155195 PMID:16170316 PMID:16329078 PMID:16372351 PMID:16443854 PMID:16835863 PMID:16881968 PMID:16969868 PMID:17054105 PMID:17211612 PMID:17384584 PMID:17412879 PMID:17979197 PMID:18039947 PMID:18042262 PMID:18247425 PMID:18642361 PMID:18978862 PMID:19206176 PMID:19213030 PMID:19255327 PMID:19371735 PMID:19669404 PMID:19773371 PMID:19855393 PMID:20301680 PMID:20658932 PMID:20660566 PMID:20937837 PMID:20979192 PMID:21344638 PMID:21438134 PMID:21495179 PMID:21834037 PMID:21850009 PMID:22087699 PMID:22317973 PMID:22495892 PMID:22499344 PMID:22683711 PMID:22926243 PMID:23096712 PMID:23406027 PMID:23429430 PMID:23751039 PMID:23884457 PMID:24006476 PMID:24033266 PMID:24129065 PMID:24224811 PMID:24390138 PMID:25157968 PMID:25326635 PMID:25741868 PMID:25914166 PMID:26467025 PMID:26619011 PMID:26916728 PMID:27102959 PMID:27283355 PMID:27444071 PMID:28139825 PMID:28492532 PMID:29493581 PMID:30191474 PMID:31222966 PMID:31775759 PMID:32732226 PMID:33027564 PMID:33372952 PMID:34008892 PMID:34958143 PMID:168335863 More...
NCBI chr11:532,242...535,576
Ensembl chr11:532,242...537,321
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IFNL3
interferon lambda 3
EXP
CTD Direct Evidence: therapeutic
CTD
PMID:21304406
NCBI chr19:39,243,455...39,245,250
Ensembl chr19:39,243,455...39,245,250
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IGF1
insulin like growth factor 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:30594912
NCBI chr12:102,395,874...102,481,839
Ensembl chr12:102,395,874...102,481,744
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IL1A
interleukin 1 alpha
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:27738319
NCBI chr 2:112,773,925...112,784,493
Ensembl chr 2:112,773,925...112,784,493
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IL1RAP
interleukin 1 receptor accessory protein
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:27738319
NCBI chr 3:190,514,085...190,659,750
Ensembl chr 3:190,514,051...190,659,750
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IL2
interleukin 2
IDA
RGD
PMID:3263896 PMID:2787951
RGD:8662923 , RGD:8662971
NCBI chr 4:122,451,470...122,456,725
Ensembl chr 4:122,451,470...122,456,725
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ING1
inhibitor of growth family member 1
IAGP EXP
ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:10866301
NCBI chr13:110,712,623...110,723,339
Ensembl chr13:110,712,736...110,723,339
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IRS1
insulin receptor substrate 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:30594912
NCBI chr 2:226,731,312...226,799,820
Ensembl chr 2:226,731,312...226,799,820
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JUNB
JunB proto-oncogene, AP-1 transcription factor subunit
ameliorates
IMP
human cell line in a mouse model
RGD
PMID:26754630
RGD:11556098
NCBI chr19:12,791,486...12,793,315
Ensembl chr19:12,791,486...12,793,315
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KISS1
KiSS-1 metastasis suppressor
EXP
CTD Direct Evidence: therapeutic
CTD
PMID:21383688
NCBI chr 1:204,190,341...204,196,491
Ensembl chr 1:204,190,341...204,196,491
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KIT
KIT proto-oncogene, receptor tyrosine kinase
IAGP
ClinVar Annotator: match by term: Lip and oral cavity carcinoma
ClinVar
PMID:22703879 PMID:24728327 PMID:25741868 PMID:28492532 PMID:31775759
NCBI chr 4:54,657,957...54,740,715
Ensembl chr 4:54,657,267...54,740,783
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LNX1
ligand of numb-protein X 1
IAGP
ClinVar Annotator: match by term: Lip and oral cavity carcinoma
ClinVar
PMID:26614431
NCBI chr 4:53,459,301...53,652,477
Ensembl chr 4:53,459,301...53,701,405
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LOC126806658
BRD4-independent group 4 enhancer GRCh37_chr3:41265899-41267098
IAGP
ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck
ClinVar
PMID:25157968 PMID:26619011
NCBI chr 3:41,224,408...41,225,607
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LOC126862483
BRD4-independent group 4 enhancer GRCh37_chr17:7589699-7590898
IAGP
ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck
ClinVar
NCBI chr17:7,686,360...7,687,580
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LOC130062899
ATAC-STARR-seq lymphoblastoid active region 13597
IAGP
ClinVar Annotator: match by term: Lip and oral cavity carcinoma
ClinVar
PMID:25741868 PMID:26467025 PMID:28492532 PMID:31775759 PMID:34326862
NCBI chr19:1,223,046...1,223,255
G
LRRC56
leucine rich repeat containing 56
IAGP
ClinVar Annotator: match by term: Lip and oral cavity carcinoma
ClinVar
PMID:2105486 PMID:11150980 PMID:12727991 PMID:12835555 PMID:16155195 PMID:16170316 PMID:16329078 PMID:16372351 PMID:16443854 PMID:16835863 PMID:16881968 PMID:16969868 PMID:17054105 PMID:17412879 PMID:17979197 PMID:18039947 PMID:18247425 PMID:18642361 PMID:18978862 PMID:19206176 PMID:19371735 PMID:19669404 PMID:19855393 PMID:20301680 PMID:20658932 PMID:20660566 PMID:20937837 PMID:20979192 PMID:21344638 PMID:21834037 PMID:21850009 PMID:22087699 PMID:22317973 PMID:22495892 PMID:22499344 PMID:22683711 PMID:22926243 PMID:23096712 PMID:23751039 PMID:23884457 PMID:24006476 PMID:24033266 PMID:24129065 PMID:24224811 PMID:24390138 PMID:25741868 PMID:25914166 PMID:26467025 PMID:26916728 PMID:27102959 PMID:27283355 PMID:27444071 PMID:28139825 PMID:28492532 PMID:29493581 PMID:30191474 PMID:31222966 PMID:31775759 PMID:32732226 PMID:33027564 PMID:33372952 PMID:34008892 PMID:34958143 More...
NCBI chr11:506,462...554,912
Ensembl chr11:537,527...554,912
G
MGMT
O-6-methylguanine-DNA methyltransferase
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:24991542
NCBI chr10:129,467,241...129,770,983
Ensembl chr10:129,467,190...129,770,983
G
MIR155
microRNA 155
IEP
RGD
PMID:30617160
RGD:21081517
NCBI chr21:25,573,980...25,574,044
Ensembl chr21:25,573,980...25,574,044
G
MIR222
microRNA 222
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:19487542
NCBI chr X:45,747,015...45,747,124
Ensembl chr X:45,747,015...45,747,124
G
MIR494
microRNA 494
exacerbates
IMP
RGD
PMID:26090866
RGD:11529207
NCBI chr14:101,029,634...101,029,714
Ensembl chr14:101,029,634...101,029,714
G
MMP2
matrix metallopeptidase 2
IAGP
ClinVar Annotator: match by term: Lip and oral cavity carcinoma
ClinVar
PMID:28595731
NCBI chr16:55,478,830...55,506,691
Ensembl chr16:55,389,700...55,506,691
G
NAIP
NLR family apoptosis inhibitory protein
ameliorates
HEP
mRNA:increased expression:head or neck 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
G
NAMPT
nicotinamide phosphoribosyltransferase
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28501332
NCBI chr 7:106,248,298...106,285,888
Ensembl chr 7:106,248,298...106,285,966
G
NDRG1
N-myc downstream regulated 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:22972152
NCBI chr 8:133,237,175...133,297,252
Ensembl chr 8:133,237,175...133,302,022
G
NSDHL
NAD(P) dependent 3-beta-hydroxysteroid dehydrogenase NSDHL
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:23125191
NCBI chr X:152,831,063...152,869,729
Ensembl chr X:152,830,967...152,869,729
G
OGG1
8-oxoguanine DNA glycosylase
susceptibility
IEP IAGP
DNA:SNP: :rs1052133 (human)
RGD
PMID:22081374 PMID:21727658
RGD:8657144 , RGD:8657147
NCBI chr 3:9,749,952...9,783,108
Ensembl chr 3:9,749,944...9,788,219
G
PIK3CA
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha
EXP IAGP
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Lip and oral cavity carcinoma ClinVar Annotator: match by term: Head and neck squamous cell carcinoma
CTD ClinVar
PMID:15016963 PMID:15254419 PMID:15520168 PMID:15608678 PMID:15647370 PMID:15805248 PMID:17673550 PMID:18676830 PMID:18725974 PMID:19366826 PMID:19903786 PMID:20453058 PMID:20593314 PMID:20619739 PMID:22162582 PMID:22162589 PMID:22370636 PMID:22658544 PMID:22729222 PMID:22729224 PMID:23066039 PMID:23100325 PMID:23873848 PMID:23946963 PMID:24782230 PMID:25599672 PMID:25741868 PMID:26266975 PMID:26266985 PMID:26619011 PMID:26627007 PMID:26822237 PMID:26851524 PMID:27126994 PMID:27626068 PMID:27631024 PMID:28151489 PMID:28492532 PMID:29446767 PMID:29758562 PMID:29988677 PMID:30063105 PMID:31536475 PMID:31775759 PMID:34008892 PMID:34496175 PMID:37712948 More...
NCBI chr 3:179,148,126...179,240,093
Ensembl chr 3:179,148,114...179,240,093
G
PREX2
phosphatidylinositol-3,4,5-trisphosphate dependent Rac exchange factor 2
IAGP
ClinVar Annotator: match by term: Lip and oral cavity carcinoma
ClinVar
PMID:26614431
NCBI chr 8:67,952,046...68,237,032
Ensembl chr 8:67,952,046...68,237,032
G
PTEN
phosphatase and tensin homolog
IAGP EXP
ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck ClinVar Annotator: match by term: Head and neck squamous cell carcinoma CTD Direct Evidence: marker/mechanism
ClinVar CTD
PMID:11801303 PMID:23873848 PMID:24033266 PMID:24055113 PMID:25741868 PMID:25980754 PMID:28492532 PMID:29706350 PMID:29785012 PMID:30311380 PMID:32350270 PMID:32885271 PMID:34793697 PMID:35931053 PMID:38645101 More...
NCBI chr10:87,863,625...87,971,930
Ensembl chr10:87,862,638...87,971,930
G
PTGS2
prostaglandin-endoperoxide synthase 2
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:12969226
NCBI chr 1:186,671,791...186,680,423
Ensembl chr 1:186,671,791...186,680,922
G
PTPN13
protein tyrosine phosphatase non-receptor type 13
susceptibility
IAGP
DNA:SNPs:cds:c.4566 A>G(I1522M)(rs2230600), c.6241 T>G (Y2081D)(rs989902)(human) DNA:missense mutations:cds:p.I1522M, p.Y2081D (human)
RGD
PMID:19892796 PMID:19672627
RGD:152176661 , RGD:152176665
NCBI chr 4:86,594,315...86,815,161
Ensembl chr 4:86,594,315...86,815,171
G
RASGRP3
RAS guanyl releasing protein 3
IAGP
ClinVar Annotator: match by term: Lip and oral cavity carcinoma
ClinVar
PMID:26614431
NCBI chr 2:33,436,348...33,564,731
Ensembl chr 2:33,436,324...33,586,669
G
RB1
RB transcriptional corepressor 1
IAGP
ClinVar Annotator: match by term: Lip and oral cavity carcinoma
ClinVar
PMID:31775759
NCBI chr13:48,303,751...48,481,890
Ensembl chr13:48,303,744...48,599,436
G
SAMD4A
sterile alpha motif domain containing 4A
IAGP
ClinVar Annotator: match by term: Lip and oral cavity carcinoma
ClinVar
PMID:28580594
NCBI chr14:54,565,316...54,793,315
Ensembl chr14:54,566,117...54,793,315
G
SERPINE1
serpin family E member 1
severity
IEP
protein:increased expression:oral mucosa (human)
RGD
PMID:15878520
RGD:8547730
NCBI chr 7:101,127,104...101,139,247
Ensembl chr 7:101,127,104...101,139,247
G
SMAD4
SMAD family member 4
ISO
RGD
PMID:19841536
RGD:12880035
NCBI chr18:51,030,213...51,085,042
Ensembl chr18:51,028,528...51,085,045
G
SNTB1
syntrophin beta 1
IAGP
ClinVar Annotator: match by term: Lip and oral cavity carcinoma
ClinVar
PMID:28595731
NCBI chr 8:120,535,756...120,812,046
Ensembl chr 8:120,535,745...120,813,273
G
SOD2
superoxide dismutase 2
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:20618948
NCBI chr 6:159,669,069...159,762,281
Ensembl chr 6:159,669,069...159,762,529
G
STAT3
signal transducer and activator of transcription 3
treatment
IMP EXP
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:27064016 PMID:24395569
RGD:8694302
NCBI chr17:42,313,324...42,388,442
Ensembl chr17:42,313,324...42,388,568
G
STK11
serine/threonine kinase 11
IAGP
ClinVar Annotator: match by term: Lip and oral cavity carcinoma
ClinVar
PMID:25741868 PMID:26467025 PMID:28492532 PMID:31775759 PMID:34326862
NCBI chr19:1,205,778...1,228,431
Ensembl chr19:1,177,558...1,228,431
G
TNFRSF10A
TNF receptor superfamily member 10a
IAGP
DNA:missense mutation:cds:p.E228A (c.683A>C) (human)
RGD
PMID:16217763
RGD:11038717
NCBI chr 8:23,190,452...23,225,102
Ensembl chr 8:23,190,452...23,225,102
G
TNFRSF10B
TNF receptor superfamily member 10b
IAGP EXP
ClinVar Annotator: match by term: TNFRSF10B-related condition ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:25741868 PMID:28492532
NCBI chr 8:23,020,133...23,069,031
Ensembl chr 8:23,020,133...23,069,031
G
TP53
tumor protein p53
IAGP EXP
ClinVar Annotator: match by term: Head and neck squamous cell carcinoma ClinVar Annotator: match by term: Lip and oral cavity carcinoma ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck ClinVar Annotator: match by term: Squamous cell carcinoma, head and neck, somatic ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck | ClinVar Annotator: match by term: Squamous cell carcinoma, head and neck, somatic ClinVar Annotator: match by term: Head and neck squamous cell carcinoma | ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck CTD Direct Evidence: marker/mechanism
ClinVar CTD
PMID:1349102 PMID:1349175 PMID:1565143 PMID:1565144 PMID:1581912 PMID:1591732 PMID:1631137 PMID:1683921 PMID:1849234 PMID:1975675 PMID:1978757 PMID:1999338 PMID:2046748 PMID:2932480 PMID:7651740 PMID:7700647 PMID:7706467 PMID:7707106 PMID:7732013 PMID:7885831 PMID:7887414 PMID:7966399 PMID:7981076 PMID:8001119 PMID:8012986 PMID:8023157 PMID:8062826 PMID:8080050 PMID:8099841 PMID:8102535 PMID:8118819 PMID:8134126 PMID:8164043 PMID:8242752 PMID:8308926 PMID:8401536 PMID:8402598 PMID:8423216 PMID:8425176 PMID:8527048 PMID:8633021 PMID:8675009 PMID:8710380 PMID:8718514 PMID:8825920 PMID:8829627 PMID:8843196 PMID:9047394 PMID:9067756 PMID:9150393 PMID:9157982 PMID:9242456 PMID:9285560 PMID:9301461 PMID:9399838 PMID:9407971 PMID:9470817 PMID:9536098 PMID:9546439 PMID:9572492 PMID:9582268 PMID:9598730 PMID:9607760 PMID:9627118 PMID:9632751 PMID:9662334 PMID:9667734 PMID:9704930 PMID:9704931 PMID:9825943 PMID:9891044 PMID:10089074 PMID:10206274 PMID:10229196 PMID:10389749 PMID:10411893 PMID:10432928 PMID:10435620 PMID:10486318 PMID:10519380 PMID:10519384 PMID:10554037 PMID:10589545 PMID:10797439 PMID:10802655 PMID:10864200 PMID:10871862 PMID:10922393 PMID:10949938 PMID:11051239 PMID:11051241 PMID:11139324 PMID:11180592 PMID:11313981 PMID:11370630 PMID:11403041 PMID:11423991 PMID:11429705 PMID:11479205 PMID:11481490 PMID:11521785 PMID:11590071 PMID:11600572 PMID:11753428 PMID:11782540 PMID:11793474 PMID:11805092 PMID:11896595 PMID:11920959 PMID:12007217 PMID:12019170 PMID:12509279 PMID:12567188 PMID:12619118 PMID:12672316 PMID:12695689 PMID:12726864 PMID:12782597 PMID:12826609 PMID:12917626 PMID:14559903 PMID:14639659 PMID:14743206 PMID:15037740 PMID:15121773 PMID:15221755 PMID:15355915 PMID:15381368 PMID:15390294 PMID:15580553 PMID:15607980 PMID:15607981 PMID:15654279 PMID:15659650 PMID:15722483 PMID:15741269 PMID:15781620 PMID:15925506 PMID:15951970 PMID:15958617 PMID:15964795 PMID:15977174 PMID:15982667 PMID:16007150 PMID:16033918 PMID:16199547 PMID:16199549 PMID:16206219 PMID:16258005 PMID:16322298 PMID:16401470 PMID:16461914 PMID:16489069 PMID:16494995 PMID:16508005 PMID:16534790 PMID:16644204 PMID:16682957 PMID:16736287 PMID:16741917 PMID:16750598 PMID:16754663 PMID:16778209 PMID:16818505 PMID:16827139 PMID:16861262 PMID:16933305 PMID:16964264 PMID:17015838 PMID:17133269 PMID:17308077 PMID:17311302 PMID:17318340 PMID:17401428 PMID:17417627 PMID:17427234 PMID:17535973 PMID:17540308 PMID:17541742 PMID:17576681 PMID:17599946 PMID:17606709 PMID:17636407 PMID:17638920 PMID:17724467 PMID:17875924 PMID:17881637 PMID:17940213 PMID:17947339 PMID:18208484 PMID:18248785 PMID:18270399 PMID:18307025 PMID:18373486 PMID:18511570 PMID:18555592 PMID:18689542 PMID:18818522 PMID:18940924 PMID:18989156 PMID:19012332 PMID:19046423 PMID:19101993 PMID:19127115 PMID:19139070 PMID:19336573 PMID:19367569 PMID:19378321 PMID:19416725 PMID:19454241 PMID:19468865 PMID:19521721 PMID:19556618 PMID:19717094 PMID:19756158 PMID:19877175 PMID:19881536 PMID:19913028 PMID:19930417 PMID:19933256 PMID:20013323 PMID:20028212 PMID:20113312 PMID:20127978 PMID:20128691 PMID:20182602 PMID:20301488 PMID:20364130 PMID:20407015 PMID:20471942 PMID:20504876 PMID:20505364 PMID:20516128 PMID:20520810 PMID:20522432 PMID:20538734 PMID:20586629 PMID:20593220 PMID:20658636 PMID:20689556 PMID:20693561 PMID:20805372 PMID:20948308 PMID:21059199 PMID:21060032 PMID:21113594 PMID:21118481 PMID:21153778 PMID:21187651 PMID:21192060 PMID:21225465 PMID:21232794 PMID:21305319 PMID:21331359 PMID:21343334 PMID:21348641 PMID:21356188 PMID:21440489 PMID:21445056 PMID:21445348 PMID:21468523 PMID:21483000 PMID:21484931 PMID:21519010 PMID:21552135 PMID:21601526 PMID:21619694 PMID:21626334 PMID:21630152 PMID:21666498 PMID:21672450 PMID:21761402 PMID:21878961 PMID:21934104 PMID:22004116 PMID:22006311 PMID:22110706 PMID:22170717 PMID:22186996 PMID:22198284 PMID:22203015 PMID:22233476 PMID:22265402 PMID:22373952 PMID:22427690 PMID:22455664 PMID:22551548 PMID:22619358 PMID:22653678 PMID:22672556 PMID:22703879 PMID:22713868 PMID:22729912 PMID:22744426 PMID:22811390 PMID:22822097 PMID:22869713 PMID:22887876 PMID:22915647 PMID:22923379 PMID:22955915 PMID:23031740 PMID:23056559 PMID:23161690 PMID:23172776 PMID:23175693 PMID:23200980 PMID:23246812 PMID:23255406 PMID:23259501 PMID:23263379 PMID:23334668 PMID:23469205 PMID:23484829 PMID:23531339 PMID:23538418 PMID:23570263 PMID:23612969 PMID:23624782 PMID:23630318 PMID:23667202 PMID:23733769 PMID:23792586 PMID:23794094 PMID:23887774 PMID:23894400 PMID:23897043 PMID:23950206 PMID:24033266 PMID:24038938 PMID:24065105 PMID:24076587 PMID:24171036 PMID:24256616 PMID:24326041 PMID:24381225 PMID:24382691 PMID:24384472 PMID:24487413 PMID:24501221 PMID:24549055 PMID:24556621 PMID:24573247 PMID:24603336 PMID:24630730 PMID:24641375 PMID:24651015 PMID:24665023 PMID:24677579 PMID:24700732 PMID:24702488 PMID:24728327 PMID:24729566 PMID:24797764 PMID:24803582 PMID:24810334 PMID:24857548 PMID:24884479 PMID:24908601 PMID:24936644 PMID:25059482 PMID:25086664 PMID:25131192 PMID:25157968 PMID:25184754 PMID:25186627 PMID:25234657 PMID:25256166 PMID:25293557 PMID:25299233 PMID:25303977 PMID:25404506 PMID:25490274 PMID:25490678 PMID:25503501 PMID:25584008 PMID:25612911 PMID:25619955 PMID:25634010 PMID:25637381 PMID:25669829 PMID:25736369 PMID:25741868 PMID:25742471 PMID:25765855 PMID:25787918 PMID:25896519 PMID:25925845 PMID:25945745 PMID:25952993 PMID:25980754 PMID:26000489 PMID:26014290 PMID:26086041 PMID:26206375 PMID:26225655 PMID:26230955 PMID:26270727 PMID:26332594 PMID:26425688 PMID:26452166 PMID:26467025 PMID:26484312 PMID:26556299 PMID:26572807 PMID:26580448 PMID:26585234 PMID:26619011 PMID:26681051 PMID:26681312 PMID:26787237 PMID:26818906 PMID:26822237 PMID:26845104 PMID:26878390 PMID:26911350 PMID:27022024 PMID:27059324 PMID:27077130 PMID:27081505 PMID:27091190 PMID:27101110 PMID:27101868 PMID:27146902 PMID:27153395 PMID:27189670 PMID:27210295 PMID:27223487 PMID:27276561 PMID:27328919 PMID:27372520 PMID:27374712 PMID:27391063 PMID:27463065 PMID:27501770 PMID:27516001 PMID:27523101 PMID:27533082 PMID:27557517 PMID:27601191 PMID:27616075 PMID:27663983 PMID:27680515 PMID:27683180 PMID:27714481 PMID:27726232 PMID:27866339 PMID:27895058 PMID:27911860 PMID:27923552 PMID:27959731 PMID:27993330 PMID:28152038 PMID:28154273 PMID:28202063 PMID:28230820 PMID:28279309 PMID:28349240 PMID:28356770 PMID:28369373 PMID:28387921 PMID:28453743 PMID:28453760 PMID:28472496 PMID:28477317 PMID:28486781 PMID:28492532 PMID:28503720 PMID:28573494 PMID:28724667 PMID:28756477 PMID:28767289 PMID:28861920 PMID:28864397 PMID:28873162 PMID:28968711 PMID:28975465 PMID:28984303 PMID:29025599 PMID:29059199 PMID:29070607 PMID:29076966 PMID:29300620 PMID:29324801 PMID:29392648 PMID:29470806 PMID:29478780 PMID:29489754 PMID:29522266 PMID:29581140 PMID:29625052 PMID:29752822 PMID:29753700 PMID:29844874 PMID:29922827 PMID:29955864 PMID:29956451 PMID:29958926 PMID:29979965 PMID:30042151 PMID:30067863 PMID:30076369 PMID:30092803 PMID:30099178 PMID:30107858 PMID:30147334 PMID:30216591 PMID:30224644 PMID:30262806 PMID:30264118 PMID:30287823 PMID:30299350 PMID:30306255 PMID:30327374 PMID:30352134 PMID:30374176 PMID:30588330 PMID:30594912 PMID:30596752 PMID:30607672 PMID:30653764 PMID:30709381 PMID:30709875 PMID:30720243 PMID:30816478 PMID:30840781 PMID:30982232 PMID:31016814 PMID:31060593 PMID:31081129 PMID:31105275 PMID:31119730 PMID:31127191 PMID:31159747 PMID:31206626 PMID:31278746 PMID:31296311 PMID:31321604 PMID:31422574 PMID:31494577 PMID:31567591 PMID:31744167 PMID:31748977 PMID:31775759 PMID:31882575 PMID:31937788 PMID:31948886 PMID:31978118 PMID:32000721 PMID:32019277 PMID:32039725 PMID:32156018 PMID:32187361 PMID:32292755 PMID:32295079 PMID:32371905 PMID:32475984 PMID:32554555 PMID:32566746 PMID:32592449 PMID:32658311 PMID:32671623 PMID:32817165 PMID:32832836 PMID:32906206 PMID:32930885 PMID:32980694 PMID:32986223 PMID:32994724 PMID:33051313 PMID:33087929 PMID:33089535 PMID:33128190 PMID:33138793 PMID:33208383 PMID:33245408 PMID:33257846 PMID:33258288 PMID:33300245 PMID:33309985 PMID:33332384 PMID:33372952 PMID:33407742 PMID:33471991 PMID:33504652 PMID:33603772 PMID:33633026 PMID:33637564 PMID:33758026 PMID:33818021 PMID:34049842 PMID:34067731 PMID:34240179 PMID:34266904 PMID:34273903 PMID:34284872 PMID:34426522 PMID:34793666 PMID:34885220 PMID:34907344 PMID:35017683 PMID:35033608 PMID:35264596 PMID:35323354 PMID:35367578 PMID:35512711 PMID:35626031 PMID:35820297 PMID:35875466 PMID:35884425 PMID:35886069 PMID:35938033 PMID:35974385 PMID:36003761 PMID:36329109 PMID:36988593 PMID:37373225 PMID:37563628 PMID:37680325 PMID:37704212 PMID:37851120 PMID:38153744 PMID:38201513 More...
NCBI chr17:7,668,421...7,687,490
Ensembl chr17:7,661,779...7,687,546
G
VAMP7
vesicle associated membrane protein 7
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:23358896
NCBI chr X:155,881,345...155,943,769 NCBI chr Y:57,067,865...57,130,289
Ensembl chr Y:57,067,865...57,130,289 Ensembl chr X:57,067,865...57,130,289
G
WEE1
WEE1 G2 checkpoint kinase
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:25125259
NCBI chr11:9,573,670...9,589,985
Ensembl chr11:9,573,670...9,593,457
G
WRAP53
WD repeat containing antisense to TP53
treatment
IEP IAGP IMP
ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck
ClinVar RGD
PMID:25456005 PMID:25070141
RGD:21081529 , RGD:21081533
NCBI chr17:7,686,071...7,703,502
Ensembl chr17:7,686,071...7,703,502
G
YAP1
Yes1 associated transcriptional regulator
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:20729916
NCBI chr11:102,110,447...102,233,424
Ensembl chr11:102,110,447...102,233,424
G
KRT10
keratin 10
IAGP
ClinVar Annotator: match by term: Ichthyosis hystrix gravior
OMIM ClinVar
PMID:17355236 PMID:27212473
NCBI chr17:40,818,117...40,822,614
Ensembl chr17:40,818,117...40,822,614
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KRT10-AS1
KRT10 antisense RNA 1
IAGP
ClinVar Annotator: match by term: Ichthyosis hystrix gravior
ClinVar
PMID:17355236 PMID:27212473
NCBI chr17:40,819,145...40,836,274
Ensembl chr17:40,819,071...40,836,273
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CD28
CD28 molecule
IAGP
ClinVar Annotator: match by term: Immunodeficiency 123 with HPV-related verrucosis
OMIM ClinVar
NCBI chr 2:203,706,482...203,738,912
Ensembl chr 2:203,706,517...203,739,756
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RHOH
ras homolog family member H
IAGP
ClinVar Annotator: match by term: Epidermodysplasia verruciformis, susceptibility to, 4 ClinVar Annotator: match by term: RHOH-related condition
ClinVar OMIM
PMID:22850876 PMID:25741868 PMID:28492532 PMID:38775840
NCBI chr 4:40,191,080...40,246,967
Ensembl chr 4:40,191,011...40,246,967
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IL7
interleukin 7
IAGP
ClinVar Annotator: match by term: Epidermodysplasia verruciformis, susceptibility to, 5 | ClinVar Annotator: match by term: IL7-related condition
OMIM ClinVar
PMID:25741868 PMID:25981006 PMID:28492532 PMID:31900472 PMID:39352394
NCBI chr 8:78,675,044...78,805,463
Ensembl chr 8:78,675,743...78,805,523
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CDKN1A
cyclin dependent kinase inhibitor 1A
IEP
protein:increased expression:nucleus:
RGD
PMID:19863319 PMID:21608063
RGD:8662353 , RGD:8662357
NCBI chr 6:36,676,463...36,687,332
Ensembl chr 6:36,676,460...36,687,397
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HGF
hepatocyte growth factor
IEP
protein:increased expression:inferior nasal concha:
RGD
PMID:22730814
RGD:8548614
NCBI chr 7:81,699,010...81,770,047
Ensembl chr 7:81,699,010...81,770,438
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KDR
kinase insert domain receptor
IEP
protein:increased expression:inferior nasal concha:
RGD
PMID:12541477
RGD:8551779
NCBI chr 4:55,078,481...55,125,595
Ensembl chr 4:55,078,481...55,125,595
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VEGFA
vascular endothelial growth factor A
IEP
protein:increased expression:inferior nasal concha:
RGD
PMID:12541477
RGD:8551779
NCBI chr 6:43,770,211...43,786,487
Ensembl chr 6:43,770,184...43,786,487
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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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PTGS2
prostaglandin-endoperoxide synthase 2
IMP
RGD
PMID:19736197
RGD:5135499
NCBI chr 1:186,671,791...186,680,423
Ensembl chr 1:186,671,791...186,680,922
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SERPINA3
serpin family A member 3
IEP
protein:decreased expression:serum
RGD
PMID:16273852
RGD:5147435
NCBI chr14:94,612,391...94,624,053
Ensembl chr14:94,612,384...94,624,055
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TAP1
transporter 1, ATP binding cassette subfamily B member
IDA
RGD
PMID:10618282
RGD:5147846
NCBI chr 6:32,845,209...32,853,704
Ensembl chr 6:32,845,209...32,853,816
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ADA
adenosine deaminase
IEP
protein:decreased activity:larynx
RGD
PMID:8138195
RGD:152995273
NCBI chr20:44,619,522...44,651,699
Ensembl chr20:44,584,896...44,652,252
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CAT
catalase
IEP
protein:increased activity:larynx
RGD
PMID:8138195
RGD:152995273
NCBI chr11:34,438,934...34,472,060
Ensembl chr11:34,438,934...34,472,060
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CDC73
cell division cycle 73
disease_progression
IEP
protein:decreased expression:larynx (human)
RGD
PMID:27334641
RGD:150539447
NCBI chr 1:193,122,031...193,254,815
Ensembl chr 1:193,121,983...193,254,815
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CDKN1A
cyclin dependent kinase inhibitor 1A
IEP
RGD
PMID:15646812
RGD:8662837
NCBI chr 6:36,676,463...36,687,332
Ensembl chr 6:36,676,460...36,687,397
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CHD4
chromodomain helicase DNA binding protein 4
exacerbates
HEP
mRNA:increased expression:larynx (human)
RGD
PMID:33315534
RGD:153323310
NCBI chr12:6,570,082...6,607,379
Ensembl chr12:6,570,082...6,614,524
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EGFR
epidermal growth factor receptor
disease_progression
IEP
RGD
PMID:22549618
RGD:126790474
NCBI chr 7:55,019,017...55,211,628
Ensembl chr 7:55,019,017...55,211,628
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ERBB2
erb-b2 receptor tyrosine kinase 2
disease_progression
IEP
RGD
PMID:22549618
RGD:126790474
NCBI chr17:39,688,094...39,728,658
Ensembl chr17:39,687,914...39,730,426
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ERBB3
erb-b2 receptor tyrosine kinase 3
disease_progression
IEP
RGD
PMID:22549618
RGD:126790474
NCBI chr12:56,080,108...56,103,505
Ensembl chr12:56,076,799...56,103,505
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ERBB4
erb-b2 receptor tyrosine kinase 4
disease_progression
IEP
RGD
PMID:22549618
RGD:126790474
NCBI chr 2:211,375,717...212,538,802
Ensembl chr 2:211,375,717...212,538,841
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FOXL2
forkhead box L2
exacerbates
IEP
mRNA:increased expression:larynx (human)
RGD
PMID:32517588
RGD:151667913
NCBI chr 3:138,944,224...138,947,137
Ensembl chr 3:138,944,224...138,947,137
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GPX1
glutathione peroxidase 1
disease_progression no_association
IEP IAGP
protein:increased expression:larynx (human) DNA:missense mutation:CDS:p.P198L (human) DNA:missense mutation:CDS:p.P198L (rs1050450) (human)
RGD
PMID:28641905 PMID:24074040 PMID:27188866
RGD:152995454 , RGD:152995493 , RGD:152995455
NCBI chr 3:49,357,176...49,358,353
Ensembl chr 3:49,357,174...49,358,605
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MAP2K4
mitogen-activated protein kinase kinase 4
severity
IEP
associated with Neoplasm Metastasis; protein:mRNA,increased expression:larynx epithelium (human)
RGD
PMID:19513509
RGD:150429781
NCBI chr17:12,020,877...12,143,828
Ensembl chr17:12,020,829...12,143,830
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MIR10A
microRNA 10a
severity
HEP
miRNA:decreased expression:blood serum (human)
RGD
PMID:35117730
RGD:153344530
NCBI chr17:48,579,838...48,579,947
Ensembl chr17:48,579,838...48,579,947
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MIR136
microRNA 136
IEP
RNA:decreased expression:larynx (human)
RGD
PMID:32014687
RGD:153344610
NCBI chr14:100,884,702...100,884,783
Ensembl chr14:100,884,702...100,884,783
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MIR21
microRNA 21
exacerbates
HEP
miRNA:increased expression:blood serum (human)
RGD
PMID:35117730
RGD:153344530
NCBI chr17:59,841,266...59,841,337
Ensembl chr17:59,841,266...59,841,337
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MIR31
microRNA 31
disease_progression
IEP
RNA:decreased expression:mucosa of larynx (human)
RGD
PMID:29737563
RGD:152998933
NCBI chr 9:21,512,115...21,512,185
Ensembl chr 9:21,512,115...21,512,185
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MLH1
mutL homolog 1
disease_progression
IEP
mRNA:decreased expression:larynx
RGD
PMID:23787767
RGD:126848783
NCBI chr 3:36,993,466...37,050,846
Ensembl chr 3:36,993,226...37,050,896
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MMP2
matrix metallopeptidase 2
IEP
RGD
PMID:17786346
RGD:5130203
NCBI chr16:55,478,830...55,506,691
Ensembl chr16:55,389,700...55,506,691
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MSH2
mutS homolog 2
disease_progression
IEP
mRNA:decreased expression:larynx
RGD
PMID:23787767
RGD:126848783
NCBI chr 2:47,403,067...47,709,830
Ensembl chr 2:47,403,067...47,663,146
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NAT2
N-acetyltransferase 2
susceptibility
IAGP
DNA:polymorphisms: :
RGD
PMID:19922706 PMID:16155914
RGD:5131602 , RGD:5131856
NCBI chr 8:18,386,301...18,401,218
Ensembl chr 8:18,391,282...18,401,218
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PLCG1
phospholipase C gamma 1
ameliorates
IEP
mRNA:increased expression:larynx (human)
RGD
PMID:33466212
RGD:151665160
NCBI chr20:41,137,543...41,177,626
Ensembl chr20:41,136,960...41,196,801
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RELA
RELA proto-oncogene, NF-kB subunit
severity
IEP
associated with Neoplasm Metastasis; protein:mRNA,increased expression:larynx epithelium (human)
RGD
PMID:19513509
RGD:150429781
NCBI chr11:65,653,601...65,663,857
Ensembl chr11:65,653,599...65,663,090
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XDH
xanthine dehydrogenase
IEP
protein:increased activity:larynx
RGD
PMID:8138195
RGD:152995273
NCBI chr 2:31,334,321...31,414,742
Ensembl chr 2:31,334,321...31,414,742
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XRCC1
X-ray repair cross complementing 1
IAGP
ClinVar Annotator: match by term: Laryngeal squamous cell carcinoma
ClinVar
NCBI chr19:43,543,311...43,575,527
Ensembl chr19:43,543,311...43,580,473
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ALK
ALK receptor tyrosine kinase
IAGP
ClinVar Annotator: match by term: Squamous cell lung carcinoma
ClinVar
PMID:24033266 PMID:24728327 PMID:25741868 PMID:28492532
NCBI chr 2:29,192,774...29,921,586
Ensembl chr 2:29,192,774...29,921,586
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ARHGAP44
Rho GTPase activating protein 44
HEP
mRNA:decreased expression:lung (human)
RGD
PMID:28527113
RGD:401901290
NCBI chr17:12,789,498...12,991,643
Ensembl chr17:12,789,498...12,991,643
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ARID1A
AT-rich interaction domain 1A
exacerbates
HEP
protein:decreased expression:lung (human)
RGD
PMID:32823232
RGD:126848760
NCBI chr 1:26,696,015...26,782,104
Ensembl chr 1:26,693,236...26,782,104
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ARPC5
actin related protein 2/3 complex subunit 5
IEP
mRNA:increased expression:lung (human)
RGD
PMID:22089643
RGD:11049488
NCBI chr 1:183,620,846...183,635,783
Ensembl chr 1:183,620,846...183,635,783
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ATM
ATM serine/threonine kinase
susceptibility
IAGP
DNA:SNP:intron:(rs228589) (human)
RGD
PMID:28642860
RGD:150383339
NCBI chr11:108,223,067...108,369,102
Ensembl chr11:108,222,804...108,369,102
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ATRX
ATRX chromatin remodeler
severity
IEP
RGD
PMID:31374064
RGD:127285382
NCBI chr X:77,504,880...77,786,216
Ensembl chr X:77,504,880...77,786,233
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BIRC5
baculoviral IAP repeat containing 5
disease_progression
HEP
mRNA:increased expression:lung (human)
RGD
PMID:31964418
RGD:153344516
NCBI chr17:78,214,253...78,225,635
Ensembl chr17:78,214,186...78,225,636
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BIRC6
baculoviral IAP repeat containing 6
disease_progression
HEP
mRNA:increased expression:lung (human)
RGD
PMID:31964418
RGD:153344516
NCBI chr 2:32,357,023...32,618,878
Ensembl chr 2:32,357,023...32,619,571
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BRAF
B-Raf proto-oncogene, serine/threonine kinase
IAGP
ClinVar Annotator: match by term: Squamous cell lung carcinoma
ClinVar
PMID:12068308 PMID:18186519 PMID:19537845 PMID:20350999 PMID:21129611 PMID:22310681 PMID:24033266 PMID:25157968 PMID:26619011 More...
NCBI chr 7:140,713,328...140,924,929
Ensembl chr 7:140,719,327...140,924,929
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BSG
basigin (Ok blood group)
IEP
mRNA:increased expression:lung
RGD
PMID:9154157
RGD:2289059
NCBI chr19:571,283...583,493
Ensembl chr19:571,277...583,494
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CBLB
Cbl proto-oncogene B
disease_progression
IEP
RGD
PMID:29384143
RGD:150540336
NCBI chr 3:105,655,461...105,869,449
Ensembl chr 3:105,655,461...105,869,552
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CCND1
cyclin D1
disease_progression
IEP
protein:increased expression:lung
RGD
PMID:27498289
RGD:13434929
NCBI chr11:69,641,156...69,654,474
Ensembl chr11:69,641,156...69,654,474
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CCND2
cyclin D2
IDA
DNA:hypermethylation:promoter
RGD
PMID:30308939
RGD:151665105
NCBI chr12:4,273,762...4,305,353
Ensembl chr12:4,269,771...4,305,353
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CDK4
cyclin dependent kinase 4
IEP
protein:increased expression:lung
RGD
PMID:9751261
RGD:13464277
NCBI chr12:57,747,727...57,752,310
Ensembl chr12:57,747,727...57,756,013
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CDKN2A
cyclin dependent kinase inhibitor 2A
IAGP
ClinVar Annotator: match by term: Squamous cell lung carcinoma
ClinVar
PMID:8552400 PMID:8573142 PMID:9053859 PMID:9660926 PMID:10498896 PMID:15235029 PMID:15860862 PMID:16354195 PMID:16905682 PMID:18024887 PMID:21325014 PMID:21462282 PMID:22368299 PMID:22841127 PMID:24659262 PMID:25356972 PMID:25741868 PMID:25780468 PMID:26681309 PMID:26775776 PMID:28492532 PMID:28592523 PMID:35001868 PMID:36139606 More...
NCBI chr 9:21,967,752...21,995,324
Ensembl chr 9:21,967,752...21,995,301
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CHD4
chromodomain helicase DNA binding protein 4
HEP
mRNA:increased expression:lung (human)
RGD
PMID:28486105
RGD:153323299
NCBI chr12:6,570,082...6,607,379
Ensembl chr12:6,570,082...6,614,524
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CHRNA5
cholinergic receptor nicotinic alpha 5 subunit
susceptibility
IAGP IEP
DNA:SNP: :rs503464(human) mRNA:increased expression:lung
RGD
PMID:23314339 PMID:20124469
RGD:150527849 , RGD:150527851
NCBI chr15:78,565,520...78,595,269
Ensembl chr15:78,565,520...78,595,269
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CHRNB4
cholinergic receptor nicotinic beta 4 subunit
susceptibility
IEP IDA IAGP
mRNA:increased expression:lung DNA:hypomethylation:promoter: DNA:SNP:: (rs7178270) (human)
RGD
PMID:20124469 PMID:22945651 PMID:23397474
RGD:150527851 , RGD:151361154 , RGD:151361148
NCBI chr15:78,624,111...78,661,641
Ensembl chr15:78,624,111...78,727,754
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CLPTM1L
CLPTM1 like
susceptibility no_association
IEP IAGP
mRNA:increased expression:lung DNA:SNP: :rs401681(human) DNA:SNP::rs401681(human) DNA:SNP:: rs31490(human)
RGD
PMID:24366883 PMID:24386361 PMID:24861918 PMID:23908149
RGD:150530483 , RGD:150537098 , RGD:150530499 , RGD:150530498
NCBI chr 5:1,317,752...1,345,099
Ensembl chr 5:1,317,752...1,345,099
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CREBBP
CREB binding protein
IAGP
ClinVar Annotator: match by term: Squamous cell carcinoma of lung
ClinVar
PMID:21390126 PMID:21680795 PMID:21796119 PMID:22832583 PMID:23334668 PMID:23685749 PMID:23778141 PMID:25741868 PMID:26087898 PMID:26619011 PMID:27257180 PMID:28492532 PMID:28970362 PMID:29551561 PMID:33560380 More...
NCBI chr16:3,725,054...3,880,713
Ensembl chr16:3,725,054...3,880,713
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CSF1R
colony stimulating factor 1 receptor
IEP
protein:increased expression:lung (human)
RGD
PMID:23702648
RGD:150524280
NCBI chr 5:150,053,295...150,113,365
Ensembl chr 5:150,053,291...150,113,372
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CTNNB1
catenin beta 1
disease_progression
IEP
protein:increased expression:lung
RGD
PMID:27498289
RGD:13434929
NCBI chr 3:41,199,505...41,240,443
Ensembl chr 3:41,194,741...41,260,096
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CYCS
cytochrome c, somatic
treatment
IEP
RGD
PMID:25578497
RGD:13792769
NCBI chr 7:25,118,656...25,125,260
Ensembl chr 7:25,118,656...25,125,260
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CYP1B1
cytochrome P450 family 1 subfamily B member 1
susceptibility
IAGP
Carcinoma, Squamous Cell;DNA:snp:cds:p.A119S (human)
RGD
PMID:10739169
RGD:7829734
NCBI chr 2:38,067,509...38,076,151
Ensembl chr 2:38,066,973...38,109,902
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DDR2
discoidin domain receptor tyrosine kinase 2
severity
IAGP IEP
ClinVar Annotator: match by term: Squamous cell lung carcinoma mRNA:increased expression:lung
ClinVar RGD
PMID:22328973 PMID:25741868 PMID:28492532 PMID:22807955 PMID:24885564
RGD:150429703 , RGD:150429702
NCBI chr 1:162,630,863...162,787,405
Ensembl chr 1:162,631,373...162,787,405
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E2F1
E2F transcription factor 1
treatment
IDA
RGD
PMID:28927142
RGD:13464332
NCBI chr20:33,675,477...33,686,385
Ensembl chr20:33,675,477...33,686,385
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E2F3
E2F transcription factor 3
IEP
RGD
PMID:16938365
RGD:13464341
NCBI chr 6:20,401,879...20,493,714
Ensembl chr 6:20,401,879...20,493,714
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EEF2
eukaryotic translation elongation factor 2
disease_progression
HEP
protein:increased expression:lung (human)
RGD
PMID:27542262
RGD:153298910
NCBI chr19:3,976,056...3,985,463
Ensembl chr19:3,976,056...3,985,463
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EGFR
epidermal growth factor receptor
IAGP
ClinVar Annotator: match by term: Squamous cell lung carcinoma
ClinVar
PMID:20942962 PMID:24033266 PMID:25382819 PMID:25741868 PMID:27294619 PMID:28492532 PMID:30098700 PMID:30610926 PMID:31721094 PMID:32171629 PMID:32978515 PMID:32978518 PMID:1111234672 More...
NCBI chr 7:55,019,017...55,211,628
Ensembl chr 7:55,019,017...55,211,628
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EGFR-AS1
EGFR antisense RNA 1
IAGP
ClinVar Annotator: match by term: Squamous cell lung carcinoma
ClinVar
PMID:24033266 PMID:25741868 PMID:28492532
NCBI chr 7:55,179,750...55,188,949
Ensembl chr 7:55,179,750...55,212,969
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EMX2
empty spiracles homeobox 2
exacerbates
IEP
protein:decreased expression:lung (human)
RGD
PMID:26132438
RGD:11079903
NCBI chr10:117,542,746...117,549,546
Ensembl chr10:117,542,445...117,549,546
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ERCC6
ERCC excision repair 6, chromatin remodeling factor
IEP
mRNA, protein:increased expression:lung (human)
RGD
PMID:31615563
RGD:155260344
NCBI chr10:49,434,881...49,539,538
Ensembl chr10:49,454,168...49,539,538
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ERCC6L
ERCC excision repair 6 like, spindle assembly checkpoint helicase
HEP
mRNA:increased expression:lung (human)
RGD
PMID:35150321
RGD:155260359
NCBI chr X:72,204,665...72,239,027
Ensembl chr X:72,204,657...72,239,027
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FAP
fibroblast activation protein alpha
disease_progression
IEP
RGD
PMID:26252379
RGD:152600901
NCBI chr 2:162,170,684...162,243,445
Ensembl chr 2:162,170,684...162,245,151
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FBXW7
F-box and WD repeat domain containing 7
IAGP
ClinVar Annotator: match by term: Squamous cell carcinoma of lung | ClinVar Annotator: match by term: Squamous cell lung carcinoma
ClinVar
PMID:26619011
NCBI chr 4:152,320,544...152,536,092
Ensembl chr 4:152,320,544...152,536,092
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FGF9
fibroblast growth factor 9
IEP
mRNA:decreased expression:lung (human)
RGD
PMID:28440022
RGD:152180844
NCBI chr13:21,671,073...21,704,498
Ensembl chr13:21,671,073...21,704,498
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FGFR2
fibroblast growth factor receptor 2
IAGP
ClinVar Annotator: match by term: Squamous cell lung carcinoma
ClinVar
NCBI chr10:121,478,330...121,598,458
Ensembl chr10:121,478,332...121,598,458
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FGFR3
fibroblast growth factor receptor 3
IAGP
ClinVar Annotator: match by term: Squamous cell lung carcinoma ClinVar Annotator: match by term: Squamous cell carcinoma of lung
ClinVar
PMID:8589699 PMID:10471491 PMID:11038465 PMID:11879084 PMID:15772091 PMID:17384684 PMID:19749790 PMID:20301540 PMID:25606676 PMID:25614871 PMID:25741868 PMID:28492532 More...
NCBI chr 4:1,793,293...1,808,867
Ensembl chr 4:1,793,293...1,808,872
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FGFR4
fibroblast growth factor receptor 4
disease_progression
IMP
human cells in mouse model
RGD
PMID:29402970
RGD:150429984
NCBI chr 5:177,086,915...177,098,144
Ensembl chr 5:177,086,905...177,098,144
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FRZB
frizzled related protein
IEP
protein:decreased expression:lung (human)
RGD
PMID:27623992
RGD:32716395
NCBI chr 2:182,833,275...182,866,637
Ensembl chr 2:182,833,275...182,866,637
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FUBP1
far upstream element binding protein 1
IEP
mRNA:decreased expression:lung (human)
RGD
PMID:32481602
RGD:151361197
NCBI chr 1:77,944,055...77,979,501
Ensembl chr 1:77,944,055...77,979,110
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GPX1
glutathione peroxidase 1
susceptibility
IAGP
DNA:missense mutation:CDS:p.P198L (rs1050450) (human) DNA:missense mutation:CDS:p.P200L (rs1050450) (human)
RGD
PMID:16797832 PMID:18298806
RGD:152995481 , RGD:152995507
NCBI chr 3:49,357,176...49,358,353
Ensembl chr 3:49,357,174...49,358,605
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H3C2
H3 clustered histone 2
IAGP
ClinVar Annotator: match by term: Squamous cell lung carcinoma
ClinVar
NCBI chr 6:26,031,589...26,032,099
Ensembl chr 6:26,031,589...26,032,099
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HRAS
HRas proto-oncogene, GTPase
IAGP
ClinVar Annotator: match by term: Squamous cell lung carcinoma
ClinVar
PMID:16329078 PMID:16372351 PMID:16835863 PMID:17211612 PMID:17384584 PMID:18042262 PMID:19213030 PMID:19255327 PMID:19773371 PMID:21438134 PMID:21495179 PMID:21850009 PMID:23406027 PMID:23429430 PMID:24033266 PMID:25157968 PMID:25326635 PMID:25741868 PMID:26619011 PMID:28492532 PMID:29493581 PMID:168335863 More...
NCBI chr11:532,242...535,576
Ensembl chr11:532,242...537,321
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IDH1
isocitrate dehydrogenase (NADP(+)) 1
IEP
protein:increased expression:blood plasma (human)
RGD
PMID:24046070
RGD:149735540
NCBI chr 2:208,236,227...208,255,071
Ensembl chr 2:208,236,229...208,266,074
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IDH2
isocitrate dehydrogenase (NADP(+)) 2
severity susceptibility
IEP IAGP
protein:increased expression:lung (human) protein:increased expression:blood serum (human) DNA:SNP:CD: (rs11540478) C>T (human)
RGD
PMID:30128035 PMID:29465809 PMID:27649069
RGD:149735564 , RGD:149735567 , RGD:149735566
NCBI chr15:90,083,045...90,102,468
Ensembl chr15:90,083,045...90,102,477
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KIT
KIT proto-oncogene, receptor tyrosine kinase
IAGP
ClinVar Annotator: match by term: Squamous cell lung carcinoma
ClinVar
PMID:25741868
NCBI chr 4:54,657,957...54,740,715
Ensembl chr 4:54,657,267...54,740,783
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KMT2D
lysine methyltransferase 2D
disease_progression
IAGP
RGD
PMID:24323028 PMID:30885352 PMID:28177435
RGD:150523770 , RGD:150523777 , RGD:150523776
NCBI chr12:49,018,978...49,060,794
Ensembl chr12:49,018,975...49,060,794
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KRAS
KRAS proto-oncogene, GTPase
IAGP
ClinVar Annotator: match by term: Squamous cell lung carcinoma
ClinVar
PMID:6695174 PMID:15696205 PMID:17704260 PMID:26242988 PMID:28492532
NCBI chr12:25,205,246...25,250,929
Ensembl chr12:25,205,246...25,250,936
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LAMC2
laminin subunit gamma 2
disease_progression
IEP
RGD
PMID:23124251
RGD:13793371
NCBI chr 1:183,186,264...183,258,968
Ensembl chr 1:183,186,238...183,245,127
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LOC129996007
ATAC-STARR-seq lymphoblastoid active region 24180
IAGP
ClinVar Annotator: match by term: Squamous cell lung carcinoma
ClinVar
NCBI chr 6:26,032,006...26,032,125
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LRRC56
leucine rich repeat containing 56
IAGP
ClinVar Annotator: match by term: Squamous cell lung carcinoma
ClinVar
PMID:16372351 PMID:24033266 PMID:25741868 PMID:28492532
NCBI chr11:506,462...554,912
Ensembl chr11:537,527...554,912
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MAP2K1
mitogen-activated protein kinase kinase 1
IAGP
ClinVar Annotator: match by term: Squamous cell lung carcinoma
ClinVar
PMID:25741868
NCBI chr15:66,386,912...66,491,544
Ensembl chr15:66,386,837...66,491,656
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MAP2K7
mitogen-activated protein kinase kinase 7
ISO
mRNA:decreased expression:lung (human)
RGD
PMID:31089135
RGD:155253742
NCBI chr19:7,903,877...7,914,478
Ensembl chr19:7,903,843...7,914,478
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MET
MET proto-oncogene, receptor tyrosine kinase
IAGP
ClinVar Annotator: match by term: Squamous cell lung carcinoma
ClinVar
NCBI chr 7:116,672,196...116,798,377
Ensembl chr 7:116,672,196...116,798,377
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MIR154
microRNA 154
IEP
associated with nicotine dependence; RNA:decreased expression:blood serum (human)
RGD
PMID:25386559
RGD:152995475
NCBI chr14:101,059,755...101,059,838
Ensembl chr14:101,059,755...101,059,838
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MIR193A
microRNA 193a
exacerbates
IDA
DNA:Hypermethylation
RGD
PMID:22282464
RGD:153344598
NCBI chr17:31,559,996...31,560,083
Ensembl chr17:31,559,996...31,560,083
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MIR20A
microRNA 20a
IEP
RGD
PMID:26560875
RGD:11572141
NCBI chr13:91,351,065...91,351,135
Ensembl chr13:91,351,065...91,351,135
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MIR210
microRNA 210
IEP
miRNA:increased expression:sputum (human)
RGD
PMID:27777637
RGD:152998954
NCBI chr11:568,089...568,198
Ensembl chr11:568,089...568,198
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MIR31
microRNA 31
severity
IEP
RNA:increased expression:blood serum (human) RNA:increased expression:lung (human)
RGD
PMID:21658006 PMID:21890451
RGD:152998938 , RGD:152998950
NCBI chr 9:21,512,115...21,512,185
Ensembl chr 9:21,512,115...21,512,185
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MIR3662
microRNA 3662
disease_progression
IEP
RNA:increased expression:blood plasma (human)
RGD
PMID:28964576
RGD:153344625
NCBI chr 6:134,979,338...134,979,432
Ensembl chr 6:134,979,338...134,979,432
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MIR497
microRNA 497
IMP
RGD
PMID:31115562
RGD:126925181
NCBI chr17:7,017,911...7,018,022
Ensembl chr17:7,017,911...7,018,022
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MIR9-3
microRNA 9-3
exacerbates
IDA
DNA:Hypermethylation
RGD
PMID:22282464
RGD:153344598
NCBI chr15:89,368,017...89,368,106
Ensembl chr15:89,368,017...89,368,106
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MIR944
microRNA 944
disease_progression
IEP
RNA:increased expression:blood plasma (human)
RGD
PMID:28964576
RGD:153344625
NCBI chr 3:189,829,922...189,830,009
Ensembl chr 3:189,829,922...189,830,009
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PDGFRA
platelet derived growth factor receptor alpha
IAGP
ClinVar Annotator: match by term: Squamous cell lung carcinoma
ClinVar
PMID:24033266 PMID:25741868 PMID:28492532
NCBI chr 4:54,229,293...54,298,245
Ensembl chr 4:54,229,280...54,298,245
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PIK3CA
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha
IAGP
ClinVar Annotator: match by term: Squamous cell lung carcinoma
ClinVar
PMID:25741868
NCBI chr 3:179,148,126...179,240,093
Ensembl chr 3:179,148,114...179,240,093
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POLE
DNA polymerase epsilon, catalytic subunit
ameliorates
IAGP
DNA:mutations:multiple (human)
RGD
PMID:29650000
RGD:151347653
NCBI chr12:132,623,762...132,687,342
Ensembl chr12:132,623,753...132,687,376
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PREX2
phosphatidylinositol-3,4,5-trisphosphate dependent Rac exchange factor 2
IEP
mRNA:increased expression:lung (human)
RGD
PMID:32537022
RGD:151665184
NCBI chr 8:67,952,046...68,237,032
Ensembl chr 8:67,952,046...68,237,032
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PTCH1
patched 1
disease_progression
IAGP
DNA:CNVs
RGD
PMID:21889114
RGD:150524337
NCBI chr 9:95,442,980...95,516,971
Ensembl chr 9:95,442,980...95,517,057
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PTEN
phosphatase and tensin homolog
IAGP
ClinVar Annotator: match by term: Squamous cell lung carcinoma
ClinVar
NCBI chr10:87,863,625...87,971,930
Ensembl chr10:87,862,638...87,971,930
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PTK2
protein tyrosine kinase 2
severity
IEP
RGD
PMID:23906871
RGD:152176664
NCBI chr 8:140,657,900...141,002,079
Ensembl chr 8:140,657,900...141,002,216
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PTPN11
protein tyrosine phosphatase non-receptor type 11
IAGP
ClinVar Annotator: match by term: Squamous cell carcinoma of lung
ClinVar
PMID:11704759 PMID:12634870 PMID:12717436 PMID:14644997 PMID:14974085 PMID:14982869 PMID:15385933 PMID:15842656 PMID:15928039 PMID:16830086 PMID:18470943 PMID:18678287 PMID:19047918 PMID:19509418 PMID:21930766 PMID:23825065 PMID:24033266 PMID:25741868 PMID:26619011 PMID:27783593 PMID:28492532 More...
NCBI chr12:112,418,947...112,509,918
Ensembl chr12:112,418,351...112,509,918
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PTPN13
protein tyrosine phosphatase non-receptor type 13
susceptibility severity
IEP IAGP
mRNA,protein:decreased expression:lung DNA:missense mutations:cds:p.I1522M, p.Y2081D (human)
RGD
PMID:22245727 PMID:19672627 PMID:23906871
RGD:152176663 , RGD:152176665 , RGD:152176664
NCBI chr 4:86,594,315...86,815,161
Ensembl chr 4:86,594,315...86,815,171
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PTPRJ
protein tyrosine phosphatase receptor type J
susceptibility
IAGP
DNA:missense mutations:cds:p.R326Q, p.Q276P (human)
RGD
PMID:19672627
RGD:152176665
NCBI chr11:47,980,559...48,170,839
Ensembl chr11:47,980,425...48,170,839
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RAD52
RAD52 homolog, DNA repair protein
ameliorates susceptibility
ISO IAGP
DNA:SNP: (rs6489769) (human)
RGD
PMID:28415565 PMID:22585858
RGD:151660334 , RGD:151660345
NCBI chr12:911,736...991,122
Ensembl chr12:911,736...990,053
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SFTPB
surfactant protein B
susceptibility
IAGP
DNA:polymorphism:intron (human) DNA:variants:intron:
RGD
PMID:16570259 PMID:12107845
RGD:4143389 , RGD:151667424
NCBI chr 2:85,657,307...85,668,741
Ensembl chr 2:85,657,314...85,668,741
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SLC7A5
solute carrier family 7 member 5
IGI
RGD
PMID:19068093
RGD:151361158
NCBI chr16:87,830,023...87,869,507
Ensembl chr16:87,830,016...87,869,507
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SOX30
SRY-box transcription factor 30
disease_progression
IEP
RGD
PMID:26330328
RGD:11535423
NCBI chr 5:157,625,679...157,671,480
Ensembl chr 5:157,625,679...157,671,480
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SRC
SRC proto-oncogene, non-receptor tyrosine kinase
severity
IEP
RGD
PMID:12826049
RGD:150521546
NCBI chr20:37,344,699...37,406,050
Ensembl chr20:37,344,685...37,406,050
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SRSF1
serine and arginine rich splicing factor 1
IEP
protein:increased expression:lung epithelium
RGD
PMID:23071587
RGD:150429662
NCBI chr17:57,989,038...58,007,246
Ensembl chr17:58,000,919...58,007,346
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SRSF2
serine and arginine rich splicing factor 2
IEP
protein:increased expression:lung epithelium,nucleus
RGD
PMID:23071587
RGD:150429662
NCBI chr17:76,734,115...76,737,411
Ensembl chr17:76,734,115...76,737,333
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STK11
serine/threonine kinase 11
IAGP
ClinVar Annotator: match by term: Squamous cell lung carcinoma
ClinVar
PMID:25741868 PMID:28492532
NCBI chr19:1,205,778...1,228,431
Ensembl chr19:1,177,558...1,228,431
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SULT1A1
sulfotransferase family 1A member 1
IAGP
DNA:SNP:exon:p.R213H, 638G>A (human)
RGD
PMID:14688021
RGD:1581441
NCBI chr16:28,605,258...28,623,375
Ensembl chr16:28,605,196...28,610,044
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TERT
telomerase reverse transcriptase
susceptibility
IAGP
DNA:SNP:: rs2853669(human) DNA:SNP::rs33963617(human)
RGD
PMID:23908149 PMID:31935503
RGD:150530498 , RGD:150530635
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: Squamous cell carcinoma of lung ClinVar Annotator: match by term: Squamous cell lung carcinoma
ClinVar
PMID:1565143 PMID:1565144 PMID:11370630 PMID:11793474 PMID:12726864 PMID:12826609 PMID:16778209 PMID:16861262 PMID:17311302 PMID:17724467 PMID:17875924 PMID:18555592 PMID:19468865 PMID:19556618 PMID:21113594 PMID:21232794 PMID:21305319 PMID:21761402 PMID:22427690 PMID:22672556 PMID:24549055 PMID:25584008 PMID:25669829 PMID:25741868 PMID:26014290 PMID:26585234 PMID:26619011 PMID:27557517 PMID:27616075 PMID:28369373 PMID:28492532 PMID:29070607 PMID:29979965 PMID:30224644 PMID:32980694 PMID:33138793 PMID:35820297 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
treatment
HEP IAGP
mRNA:increased expression:lung (human) DNA:SNP:: rs2273953(human)
RGD
PMID:30420492 PMID:27246533
RGD:151347580 , RGD:151347584
NCBI chr 1:3,652,516...3,736,201
Ensembl chr 1:3,652,516...3,736,201
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ACVR1B
activin A receptor type 1B
ameliorates
IMP
RGD
PMID:30061637
RGD:151665492
NCBI chr12:51,951,699...51,997,078
Ensembl chr12:51,951,699...51,997,078
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ADA
adenosine deaminase
treatment
IEP
RGD
PMID:17952507
RGD:152995277
NCBI chr20:44,619,522...44,651,699
Ensembl chr20:44,584,896...44,652,252
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ADAMTS2
ADAM metallopeptidase with thrombospondin type 1 motif 2
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:26139392
NCBI chr 5:179,110,853...179,345,461
Ensembl chr 5:179,110,853...179,345,461
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AGO1
argonaute RISC component 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:25756049
NCBI chr 1:35,869,761...35,930,532
Ensembl chr 1:35,869,808...35,930,532
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AGO2
argonaute RISC catalytic component 2
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:25756049
NCBI chr 8:140,520,156...140,642,313
Ensembl chr 8:140,520,156...140,635,633
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ANXA2
annexin A2
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:20682992
NCBI chr15:60,347,151...60,397,986
Ensembl chr15:60,347,134...60,402,883
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APOA1
apolipoprotein A1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:23056237
NCBI chr11:116,835,751...116,837,622
Ensembl chr11:116,835,751...116,837,622
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BAP1
BRCA1 associated deubiquitinase 1
ISO EXP
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:24928783 PMID:25231345 PMID:26463840 PMID:26928227 PMID:29112861 PMID:24928783 More...
RGD:9586039
NCBI chr 3:52,401,008...52,410,008
Ensembl chr 3:52,401,008...52,410,008
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BCL10
BCL10 immune signaling adaptor
IAGP EXP
ClinVar Annotator: match by term: Mesothelioma, somatic CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Mesothelioma, malignant
ClinVar CTD OMIM
PMID:9989495 PMID:10380920 PMID:10408400 PMID:25741868 PMID:28492532
NCBI chr 1:85,265,776...85,276,632
Ensembl chr 1:85,265,776...85,276,632
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BCL2
BCL2 apoptosis regulator
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:16850164
NCBI chr18:63,123,346...63,320,090
Ensembl chr18:63,123,346...63,320,128
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C9
complement C9
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:23056237
NCBI chr 5:39,284,140...39,364,495
Ensembl chr 5:39,284,140...39,371,324
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CALB2
calbindin 2
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:22784439
NCBI chr16:71,358,723...71,390,433
Ensembl chr16:71,358,713...71,390,436
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CCL23
C-C motif chemokine ligand 23
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:23056237
NCBI chr17:36,013,058...36,017,972
Ensembl chr17:36,013,056...36,017,972
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CCL27
C-C motif chemokine ligand 27
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:25162674
NCBI chr 9:34,661,890...34,662,657
Ensembl chr 9:34,661,880...34,664,048
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CCL3
C-C motif chemokine ligand 3
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:25162674
NCBI chr17:36,088,256...36,090,143
Ensembl chr17:36,088,256...36,090,169
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CCL5
C-C motif chemokine ligand 5
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:25162674
NCBI chr17:35,871,491...35,880,360
Ensembl chr17:35,871,491...35,880,793
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CCL7
C-C motif chemokine ligand 7
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:25162674
NCBI chr17:34,270,221...34,272,242
Ensembl chr17:34,270,221...34,272,242
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CCNE2
cyclin E2
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:25756049
NCBI chr 8:94,880,224...94,896,693
Ensembl chr 8:94,879,770...94,896,678
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CD40
CD40 molecule
treatment
ISO
RGD
PMID:22002241
RGD:11522742
NCBI chr20:46,118,314...46,129,858
Ensembl chr20:46,118,271...46,129,863
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CDH5
cadherin 5
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28377727
NCBI chr16:66,366,691...66,404,784
Ensembl chr16:66,366,690...66,404,784
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CDK6
cyclin dependent kinase 6
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:25756049
NCBI chr 7:92,604,921...92,836,573
Ensembl chr 7:92,604,921...92,836,573
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CDKN1A
cyclin dependent kinase inhibitor 1A
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:11453316
NCBI chr 6:36,676,463...36,687,332
Ensembl chr 6:36,676,460...36,687,397
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CDKN2A
cyclin dependent kinase inhibitor 2A
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:19223589 PMID:21526190 PMID:29112861 PMID:37441092
NCBI chr 9:21,967,752...21,995,324
Ensembl chr 9:21,967,752...21,995,301
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CFAP45
cilia and flagella associated protein 45
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:26928227
NCBI chr 1:159,872,364...159,900,165
Ensembl chr 1:159,872,364...159,900,165
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CLDN10
claudin 10
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28377727
NCBI chr13:95,433,755...95,579,759
Ensembl chr13:95,433,604...95,579,759
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CLDN15
claudin 15
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28377727
NCBI chr 7:101,232,094...101,238,820
Ensembl chr 7:101,232,092...101,238,820
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CLDN4
claudin 4
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28377727
NCBI chr 7:73,830,996...73,832,690
Ensembl chr 7:73,799,542...73,832,690
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CLDN5
claudin 5
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28377727
NCBI chr22:19,523,024...19,525,337
Ensembl chr22:19,523,024...19,527,545
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CLDN8
claudin 8
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28377727
NCBI chr21:30,214,006...30,216,097
Ensembl chr21:30,214,006...30,216,097
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CLEC11A
C-type lectin domain containing 11A
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:25162674
NCBI chr19:50,723,364...50,725,708
Ensembl chr19:50,723,364...50,725,708
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COL12A1
collagen type XII alpha 1 chain
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:25756049
NCBI chr 6:75,084,326...75,206,053
Ensembl chr 6:75,084,326...75,206,267
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COPG1
COPI coat complex subunit gamma 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:26463840
NCBI chr 3:129,249,606...129,277,773
Ensembl chr 3:129,249,606...129,277,773
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CSF1
colony stimulating factor 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:25162674
NCBI chr 1:109,910,506...109,930,992
Ensembl chr 1:109,910,242...109,930,992
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CTNNB1
catenin beta 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:22784439
NCBI chr 3:41,199,505...41,240,443
Ensembl chr 3:41,194,741...41,260,096
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CXCL12
C-X-C motif chemokine ligand 12
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:25162674
NCBI chr10:44,370,165...44,385,097
Ensembl chr10:44,370,165...44,386,493
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CXCL13
C-X-C motif chemokine ligand 13
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:23056237
NCBI chr 4:77,511,753...77,611,834
Ensembl chr 4:77,511,753...77,611,834
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CXCL8
C-X-C motif chemokine ligand 8
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:25162674 PMID:28377727
NCBI chr 4:73,740,569...73,743,716
Ensembl chr 4:73,740,519...73,743,716
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CXCL9
C-X-C motif chemokine ligand 9
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:25162674
NCBI chr 4:76,001,275...76,007,509
Ensembl chr 4:76,001,275...76,007,509
G
DDX3X
DEAD-box helicase 3 X-linked
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:26928227
NCBI chr X:41,333,308...41,364,472
Ensembl chr X:41,333,348...41,364,472
G
DDX51
DEAD-box helicase 51
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:26928227
NCBI chr12:132,136,594...132,144,319
Ensembl chr12:132,136,594...132,144,319
G
EFEMP1
EGF containing fibulin extracellular matrix protein 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:27032653
NCBI chr 2:55,865,967...55,923,782
Ensembl chr 2:55,865,967...55,924,139
G
EGFR
epidermal growth factor receptor
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:27032653
NCBI chr 7:55,019,017...55,211,628
Ensembl chr 7:55,019,017...55,211,628
G
ENOX2
ecto-NOX disulfide-thiol exchanger 2
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:26807072
NCBI chr X:130,622,325...130,903,209
Ensembl chr X:130,622,325...130,903,234
G
EPHX1
epoxide hydrolase 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:16697254
NCBI chr 1:225,810,124...225,845,563
Ensembl chr 1:225,810,124...225,845,563
G
F9
coagulation factor IX
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:23056237
NCBI chr X:139,530,739...139,563,459
Ensembl chr X:139,530,739...139,563,459
G
FCN2
ficolin 2
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:23056237
NCBI chr 9:134,864,144...134,887,523
Ensembl chr 9:134,880,810...134,887,523
G
FGD6
FYVE, RhoGEF and PH domain containing 6
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:25756049
NCBI chr12:95,076,749...95,217,467
Ensembl chr12:95,076,749...95,217,482
G
FGF18
fibroblast growth factor 18
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:25756049
NCBI chr 5:171,419,647...171,457,626
Ensembl chr 5:171,419,647...171,457,626
G
FGF9
fibroblast growth factor 9
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:25756049
NCBI chr13:21,671,073...21,704,498
Ensembl chr13:21,671,073...21,704,498
G
FN1
fibronectin 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:23056237
NCBI chr 2:215,360,865...215,436,068
Ensembl chr 2:215,360,440...215,436,073
G
FTH1
ferritin heavy chain 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:26818092
NCBI chr11:61,964,285...61,967,634
Ensembl chr11:61,959,718...61,967,634
G
GPR27
G protein-coupled receptor 27
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:25756049
NCBI chr 3:71,753,855...71,756,496
Ensembl chr 3:71,753,855...71,756,496
G
GPR37
G protein-coupled receptor 37
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:25756049
NCBI chr 7:124,743,885...124,765,792
Ensembl chr 7:124,743,885...124,765,792
G
GSTM1
glutathione S-transferase mu 1
IAGP EXP
DNA:deletion:cds (human) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:16697254 PMID:7606714
RGD:7495814
NCBI chr 1:109,687,817...109,693,745
Ensembl chr 1:109,687,814...109,709,039
G
HDAC4
histone deacetylase 4
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:25756049
NCBI chr 2:239,048,168...239,401,649 NCBI chr 2:239,193,331...239,195,457
Ensembl chr 2:239,048,168...239,401,654
G
HEPH
hephaestin
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:26818092
NCBI chr X:66,162,671...66,268,863
Ensembl chr X:66,162,671...66,268,867
G
HGF
hepatocyte growth factor
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:25162674
NCBI chr 7:81,699,010...81,770,047
Ensembl chr 7:81,699,010...81,770,438
G
HTRA1
HtrA serine peptidase 1
disease_progression
IEP
protein:increased expression:mesothelium (human)
RGD
PMID:18681782
RGD:152975625
NCBI chr10:122,461,553...122,514,907
Ensembl chr10:122,458,551...122,514,907
G
ICAM2
intercellular adhesion molecule 2
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:23056237
NCBI chr17:64,002,595...64,020,633
Ensembl chr17:64,002,594...64,020,634
G
IFNG
interferon gamma
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:25162674
NCBI chr12:68,154,768...68,159,740
Ensembl chr12:68,154,768...68,159,740
G
IGF2BP3
insulin like growth factor 2 mRNA binding protein 3
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:23621518
NCBI chr 7:23,310,209...23,470,491
Ensembl chr 7:23,310,209...23,470,491
G
IL12B
interleukin 12B
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:25162674
NCBI chr 5:159,314,780...159,330,487
Ensembl chr 5:159,314,780...159,330,863
G
IL1A
interleukin 1 alpha
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:25162674
NCBI chr 2:112,773,925...112,784,493
Ensembl chr 2:112,773,925...112,784,493
G
IL2RA
interleukin 2 receptor subunit alpha
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:25162674
NCBI chr10:6,010,689...6,062,367
Ensembl chr10:6,010,689...6,062,370
G
IL3
interleukin 3
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:25162674
NCBI chr 5:132,060,655...132,063,204
Ensembl chr 5:132,060,655...132,063,204
G
IL4
interleukin 4
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:25162674
NCBI chr 5:132,673,989...132,682,678
Ensembl chr 5:132,673,986...132,682,678
G
IL6
interleukin 6
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:25162674
NCBI chr 7:22,727,200...22,731,998
Ensembl chr 7:22,725,884...22,732,002
G
ILK
integrin linked kinase
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:23045294
NCBI chr11:6,603,774...6,610,870
Ensembl chr11:6,603,708...6,610,874
G
KAT5
lysine acetyltransferase 5
EXP
CTD Direct Evidence: therapeutic
CTD
PMID:26780987
NCBI chr11:65,712,018...65,719,604
Ensembl chr11:65,711,996...65,719,604
G
KIT
KIT proto-oncogene, receptor tyrosine kinase
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:23056237
NCBI chr 4:54,657,957...54,740,715
Ensembl chr 4:54,657,267...54,740,783
G
LIMCH1
LIM and calponin homology domains 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:25756049
NCBI chr 4:41,359,607...41,700,044
Ensembl chr 4:41,359,607...41,700,044
G
LOC107982234
WT1/WT1-AS bi-directional promoter region
IAGP
ClinVar Annotator: match by term: Mesothelioma, malignant
ClinVar
PMID:8621495 PMID:12640141 PMID:16987884 PMID:23349334 PMID:25741868 PMID:28492532 PMID:28811308 PMID:31970404 PMID:36110220 More...
NCBI chr11:32,430,169...32,437,423
G
LTA
lymphotoxin alpha
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:25162674
NCBI chr 6:31,560,610...31,574,324
Ensembl chr 6:31,572,054...31,574,324
G
MCAM
melanoma cell adhesion molecule
disease_progression
ISO EXP
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:22784439 PMID:23621518 PMID:23621518
RGD:7364782
NCBI chr11:119,308,529...119,317,130
Ensembl chr11:119,308,529...119,321,521
G
MDK
midkine
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:23056237
NCBI chr11:46,380,784...46,383,837
Ensembl chr11:46,380,756...46,383,837
G
MET
MET proto-oncogene, receptor tyrosine kinase
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:25756049
NCBI chr 7:116,672,196...116,798,377
Ensembl chr 7:116,672,196...116,798,377
G
MIF
macrophage migration inhibitory factor
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:25162674
NCBI chr22:23,894,383...23,895,223
Ensembl chr22:23,894,383...23,895,227
G
MIR125A
microRNA 125a
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:25756049
NCBI chr19:51,693,254...51,693,339
Ensembl chr19:51,693,254...51,693,339
G
MIR126
microRNA 126
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:21483773
NCBI chr 9:136,670,602...136,670,686
Ensembl chr 9:136,670,602...136,670,686
G
MIR1281
microRNA 1281
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:27716620
NCBI chr22:41,092,513...41,092,566
Ensembl chr22:41,092,513...41,092,566
G
MIR197
microRNA 197
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:27716620
NCBI chr 1:109,598,893...109,598,967
Ensembl chr 1:109,598,893...109,598,967
G
MIR32
microRNA 32
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:27716620
NCBI chr 9:109,046,229...109,046,298
Ensembl chr 9:109,046,229...109,046,298
G
MIR484
microRNA 484
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:25756049
NCBI chr16:15,643,294...15,643,372
Ensembl chr16:15,643,294...15,643,372
G
MLANA
melan-A
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:22784439
NCBI chr 9:5,890,889...5,910,606
Ensembl chr 9:5,890,889...5,910,606
G
MSLN
mesothelin
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:19190155 PMID:27032653
NCBI chr16:760,734...768,865
Ensembl chr16:760,734...768,865
G
MTMR4
myotubularin related protein 4
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:25756049
NCBI chr17:58,489,537...58,519,047
Ensembl chr17:58,489,529...58,517,905
G
MUC1
mucin 1, cell surface associated
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:22784439
NCBI chr 1:155,185,824...155,192,915
Ensembl chr 1:155,185,824...155,192,916
G
NANOS1
nanos C2HC-type zinc finger 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:25756049
NCBI chr10:119,029,714...119,033,730
Ensembl chr10:119,029,714...119,033,730
G
NAT2
N-acetyltransferase 2
susceptibility
IAGP EXP
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:16697254 PMID:15993904
RGD:5131858
NCBI chr 8:18,386,301...18,401,218
Ensembl chr 8:18,391,282...18,401,218
G
NF2
NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor
disease_progression
ISO EXP
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:23435014 PMID:26463840 PMID:26678224 PMID:26928227 PMID:29112861 PMID:37441092 PMID:32271879 PMID:16166281 More...
RGD:150530636 , RGD:150530640
NCBI chr22:29,603,556...29,698,600
Ensembl chr22:29,603,553...29,698,598
G
NGF
nerve growth factor
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:25162674
NCBI chr 1:115,285,917...115,338,249
Ensembl chr 1:115,285,904...115,338,770
G
OSMR
oncostatin M receptor
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:25756049
NCBI chr 5:38,846,012...38,945,579
Ensembl chr 5:38,845,858...38,945,596
G
PARP1
poly(ADP-ribose) polymerase 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:21543585
NCBI chr 1:226,360,691...226,408,093
Ensembl chr 1:226,360,210...226,408,154
G
PDPN
podoplanin
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:22784439
NCBI chr 1:13,583,757...13,617,957
Ensembl chr 1:13,583,465...13,617,957
G
PLLP
plasmolipin
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:25756049
NCBI chr16:57,256,097...57,284,672
Ensembl chr16:57,248,547...57,284,672
G
PTPRF
protein tyrosine phosphatase receptor type F
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:25756049
NCBI chr 1:43,522,051...43,623,666
Ensembl chr 1:43,525,187...43,623,666
G
PWAR6
Prader Willi/Angelman region RNA 6
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:25756049
NCBI chr15:25,031,873...25,036,490
G
PYCARD
PYD and CARD domain containing
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:26935421
NCBI chr16:31,201,486...31,202,760
Ensembl chr16:31,201,486...31,203,450
G
RAF1
Raf-1 proto-oncogene, serine/threonine kinase
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:25756049
NCBI chr 3:12,583,601...12,664,117
Ensembl chr 3:12,582,101...12,664,201
G
RXRA
retinoid X receptor alpha
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:25756049
NCBI chr 9:134,326,455...134,440,585
Ensembl chr 9:134,317,098...134,440,585
G
RYR2
ryanodine receptor 2
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:26928227
NCBI chr 1:237,042,184...237,833,988
Ensembl chr 1:237,042,184...237,833,988
G
S100B
S100 calcium binding protein B
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28377727
NCBI chr21:46,598,604...46,605,082
Ensembl chr21:46,598,604...46,605,208
G
SDC1
syndecan 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:27032653
NCBI chr 2:20,200,797...20,225,475
Ensembl chr 2:20,200,797...20,225,433
G
SEMA4F
ssemaphorin 4F
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:25756049
NCBI chr 2:74,654,247...74,709,713
Ensembl chr 2:74,654,226...74,690,634
G
SERPINA4
serpin family A member 4
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:23056237
NCBI chr14:94,561,442...94,569,906
Ensembl chr14:94,561,442...94,569,913
G
SETD2
SET domain containing 2, histone lysine methyltransferase
EXP IAGP
CTD Direct Evidence: marker/mechanism DNA:mutations:multiple (human)
CTD RGD
PMID:26928227 PMID:27834213
RGD:150429641
NCBI chr 3:47,016,436...47,164,840
Ensembl chr 3:47,016,428...47,164,113
G
SETDB1
SET domain bifurcated histone lysine methyltransferase 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:26928227
NCBI chr 1:150,926,263...150,964,737
Ensembl chr 1:150,926,263...150,964,744
G
SF3B1
splicing factor 3b subunit 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:26928227
NCBI chr 2:197,389,784...197,435,093
Ensembl chr 2:197,388,515...197,435,079
G
SHBG
sex hormone binding globulin
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28377727
NCBI chr17:7,614,064...7,633,372
Ensembl chr17:7,613,946...7,633,382
G
SLC22A5
solute carrier family 22 member 5
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:25756049
NCBI chr 5:132,369,710...132,395,612
Ensembl chr 5:132,369,710...132,395,613
G
SLC2A1
solute carrier family 2 member 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:22784439
NCBI chr 1:42,925,353...42,958,868
Ensembl chr 1:42,925,353...42,958,893
G
SMARCA2
SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:25756049
NCBI chr 9:2,015,347...2,193,620
Ensembl chr 9:1,980,290...2,193,624
G
SOD2
superoxide dismutase 2
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:20617513
NCBI chr 6:159,669,069...159,762,281
Ensembl chr 6:159,669,069...159,762,529
G
TBL1XR1
TBL1X/Y related 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:25756049
NCBI chr 3:177,019,344...177,201,800
Ensembl chr 3:177,019,340...177,228,000
G
TF
transferrin
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:26818092
NCBI chr 3:133,661,998...133,796,641
Ensembl chr 3:133,746,040...133,796,641
G
TFDP2
transcription factor Dp-2
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:25756049
NCBI chr 3:141,944,428...142,149,544
Ensembl chr 3:141,944,428...142,149,544
G
TGFB2
transforming growth factor beta 2
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:25756049
NCBI chr 1:218,345,336...218,444,619
Ensembl chr 1:218,345,336...218,444,619
G
TNFRSF8
TNF receptor superfamily member 8
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:23056237
NCBI chr 1:12,063,303...12,144,207
Ensembl chr 1:12,063,303...12,144,207
G
TP53
tumor protein p53
EXP ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26928227 PMID:37441092
NCBI chr17:7,668,421...7,687,490
Ensembl chr17:7,661,779...7,687,546
G
TRAF7
TNF receptor associated factor 7
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:26928227
NCBI chr16:2,155,782...2,178,129
Ensembl chr16:2,155,698...2,178,129
G
TXN
thioredoxin
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:27032653
NCBI chr 9:110,243,810...110,256,507
Ensembl chr 9:110,243,810...110,256,507
G
ULK2
unc-51 like autophagy activating kinase 2
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:26928227
NCBI chr17:19,770,830...19,867,936
Ensembl chr17:19,770,829...19,867,936
G
VIM
vimentin
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:22784439
NCBI chr10:17,228,241...17,237,593
Ensembl chr10:17,228,241...17,237,593
G
WNT3
Wnt family member 3
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:25756049
NCBI chr17:46,762,506...46,818,692
Ensembl chr17:46,762,506...46,833,154
G
WT1
WT1 transcription factor
IAGP EXP
ClinVar Annotator: match by term: Mesothelioma, malignant CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:1302008 PMID:1327525 PMID:1338906 PMID:1655284 PMID:1658787 PMID:6307071 PMID:8621495 PMID:9090524 PMID:9398852 PMID:9475094 PMID:9499425 PMID:9529364 PMID:9536098 PMID:9607189 PMID:9745866 PMID:10094551 PMID:10505699 PMID:10561752 PMID:10670748 PMID:10762296 PMID:10792605 PMID:11007843 PMID:11182928 PMID:12050205 PMID:12640141 PMID:12970737 PMID:15150775 PMID:15509792 PMID:16439601 PMID:16987884 PMID:17496156 PMID:17541636 PMID:17576681 PMID:17694336 PMID:17853480 PMID:19484379 PMID:20442690 PMID:21499692 PMID:21508141 PMID:22099579 PMID:22784439 PMID:22815844 PMID:22908070 PMID:23295293 PMID:23302619 PMID:23349334 PMID:23497137 PMID:23515051 PMID:23715653 PMID:24033266 PMID:24161391 PMID:24856380 PMID:25349199 PMID:25501161 PMID:25623218 PMID:25741868 PMID:25813279 PMID:25818337 PMID:26069768 PMID:26248470 PMID:26467025 PMID:27719739 PMID:28204945 PMID:28492532 PMID:28780565 PMID:28811308 PMID:29474669 PMID:29668062 PMID:29869118 PMID:30406062 PMID:30655312 PMID:30963316 PMID:31970404 PMID:32352694 PMID:32581362 PMID:32604935 PMID:32891756 PMID:33742552 PMID:34386660 PMID:34490048 PMID:34622098 PMID:35211794 PMID:35904974 PMID:36110220 PMID:36245711 PMID:36964972 PMID:36980135 More...
NCBI chr11:32,387,775...32,435,539
Ensembl chr11:32,387,775...32,435,564
G
WWC1
WW and C2 domain containing 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:25756049
NCBI chr 5:168,291,645...168,472,303
Ensembl chr 5:168,291,645...168,472,303
G
XRCC1
X-ray repair cross complementing 1
treatment
IAGP
RGD
PMID:22982660
RGD:151347428
NCBI chr19:43,543,311...43,575,527
Ensembl chr19:43,543,311...43,580,473
G
BAP1
BRCA1 associated deubiquitinase 1
disease_progression
IEP
RGD
PMID:27422796
RGD:127229946
NCBI chr 3:52,401,008...52,410,008
Ensembl chr 3:52,401,008...52,410,008
G
BIRC5
baculoviral IAP repeat containing 5
exacerbates
HEP
mRNA:increased expression:pleura, lung (human)
RGD
PMID:17253596
RGD:153344528
NCBI chr17:78,214,253...78,225,635
Ensembl chr17:78,214,186...78,225,636
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BIRC7
baculoviral IAP repeat containing 7
ameliorates
HEP
mRNA:increased expression:pleura, lung (human)
RGD
PMID:17253596
RGD:153344528
NCBI chr20:63,235,905...63,240,495
Ensembl chr20:63,235,883...63,240,495
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CHRNA7
cholinergic receptor nicotinic alpha 7 subunit
ameliorates
IMP
RGD
PMID:18722110
RGD:151667912
NCBI chr15:32,030,483...32,173,018
Ensembl chr15:31,923,438...32,173,018
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CSF1R
colony stimulating factor 1 receptor
HEP
mRNA:increased expression:peritoneum�� (human)
RGD
PMID:24722292
RGD:150524278
NCBI chr 5:150,053,295...150,113,365
Ensembl chr 5:150,053,291...150,113,372
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EMX2
empty spiracles homeobox 2
exacerbates
IEP
mRNA:decreased expression:mesothelium of pleural cavity (human)
RGD
PMID:25023662
RGD:153323312
NCBI chr10:117,542,746...117,549,546
Ensembl chr10:117,542,445...117,549,546
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EZH2
enhancer of zeste 2 polycomb repressive complex 2 subunit
disease_progression
IEP
mRNA, protein:increased expression:pleura
RGD
PMID:22028491
RGD:126781718
NCBI chr 7:148,807,383...148,884,291
Ensembl chr 7:148,807,257...148,884,321
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IL7R
interleukin 7 receptor
disease_progression
IEP
RGD
PMID:26155428
RGD:151347688
NCBI chr 5:35,856,891...35,879,603
Ensembl chr 5:35,852,695...35,879,603
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KDM6A
lysine demethylase 6A
IEP
mRNA:increased expression:mesothelium of pleural cavity (human)
RGD
PMID:28197626
RGD:150429737
NCBI chr X:44,873,188...45,112,779
Ensembl chr X:44,873,188...45,112,779
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MIR192
microRNA 192
IEP
miRNA:decreased expression:pleura (human)
RGD
PMID:26125439
RGD:11529530
NCBI chr11:64,891,137...64,891,246
Ensembl chr11:64,891,137...64,891,246
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MIR193A
microRNA 193a
IEP
miRNA:decreased expression:pleura (human)
RGD
PMID:26125439
RGD:11529530
NCBI chr17:31,559,996...31,560,083
Ensembl chr17:31,559,996...31,560,083
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MIR200B
microRNA 200b
IEP
miRNA:decreased expression:pleura (human)
RGD
PMID:26125439
RGD:11529530
NCBI chr 1:1,167,104...1,167,198
Ensembl chr 1:1,167,104...1,167,198
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MLH1
mutL homolog 1
disease_progression
IEP
RGD
PMID:23810210
RGD:126848799
NCBI chr 3:36,993,466...37,050,846
Ensembl chr 3:36,993,226...37,050,896
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NCOA2
nuclear receptor coactivator 2
ameliorates
IEP
protein:increased expression:mesothelium of pleural cavity (human)
RGD
PMID:22011668
RGD:153002578
NCBI chr 8:70,109,782...70,456,446
Ensembl chr 8:70,109,782...70,403,808
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NF2
NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor
disease_progression
IEP IAGP
DNA:loss of heterozygosity
RGD
PMID:27378628 PMID:26928227 PMID:26493618
RGD:150530638 , RGD:150429647 , RGD:11553131
NCBI chr22:29,603,556...29,698,600
Ensembl chr22:29,603,553...29,698,598
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RAD21
RAD21 cohesin complex component
HEP
RGD
PMID:19380173
RGD:150520037
NCBI chr 8:116,845,934...116,874,776
Ensembl chr 8:116,845,934...116,874,776
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SETD2
SET domain containing 2, histone lysine methyltransferase
disease_progression
IAGP IEP
DNA:mutations:CDS:multiple (human)
RGD
PMID:26928227 PMID:33691361
RGD:150429647 , RGD:150520202
NCBI chr 3:47,016,436...47,164,840
Ensembl chr 3:47,016,428...47,164,113
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SLC7A5
solute carrier family 7 member 5
disease_progression
IEP
protein:increased expression:pleura
RGD
PMID:22199264 PMID:24912849
RGD:151361201 , RGD:151660330
NCBI chr16:87,830,023...87,869,507
Ensembl chr16:87,830,016...87,869,507
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SMO
smoothened, frizzled class receptor
disease_progression
IEP IAGP
DNA:missense mutations
RGD
PMID:23379358 PMID:33209614
RGD:150521620 , RGD:150521621
NCBI chr 7:129,188,633...129,213,545
Ensembl chr 7:129,188,633...129,213,545
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XIAP
X-linked inhibitor of apoptosis
ameliorates
HEP
mRNA:increased expression:pleura, lung (human)
RGD
PMID:17253596
RGD:153344528
NCBI chr X:123,859,708...123,913,972
Ensembl chr X:123,859,712...123,913,972
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CDKN1A
cyclin dependent kinase inhibitor 1A
IEP
RGD
PMID:15040115
RGD:8662355
NCBI chr 6:36,676,463...36,687,332
Ensembl chr 6:36,676,460...36,687,397
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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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ABL1
ABL proto-oncogene 1, non-receptor tyrosine kinase
severity
IAGP
DNA:mutations
RGD
PMID:16676365
RGD:126925209
NCBI chr 9:130,713,043...130,887,675
Ensembl chr 9:130,713,043...130,887,675
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ADA
adenosine deaminase
disease_progression
IEP
RGD
PMID:27221867
RGD:152995268
NCBI chr20:44,619,522...44,651,699
Ensembl chr20:44,584,896...44,652,252
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AGAP2
ArfGAP with GTPase domain, ankyrin repeat and PH domain 2
disease_progression
IEP
RGD
PMID:26464646
RGD:11526681
NCBI chr12:57,723,761...57,742,161
Ensembl chr12:57,723,761...57,742,157
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ALDH1A1
aldehyde dehydrogenase 1 family member A1
IEP
protein:increased expression:oral epithelium
RGD
PMID:30981761
RGD:597538586
NCBI chr 9:72,900,671...72,953,053
Ensembl chr 9:72,900,671...73,080,442
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ANGPT1
angiopoietin 1
HEP
protein:decreased expression:oral mucosa (human)
RGD
PMID:26044849
RGD:153323290
NCBI chr 8:107,249,482...107,497,918
Ensembl chr 8:107,249,482...107,498,055
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ANGPT2
angiopoietin 2
HEP
protein:increased expression:oral mucosa (human)
RGD
PMID:26044849
RGD:153323290
NCBI chr 8:6,499,632...6,563,245
Ensembl chr 8:6,499,632...6,563,409
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ARID2
AT-rich interaction domain 2
disease_progression
IEP
RGD
PMID:31918270
RGD:150340710
NCBI chr12:45,729,706...45,908,037
Ensembl chr12:45,729,706...45,908,040
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ARPC1B
actin related protein 2/3 complex subunit 1B
severity
IEP
protein:increased expression:oral mucosa (human)
RGD
PMID:26138391
RGD:11046268
NCBI chr 7:99,374,259...99,394,816
Ensembl chr 7:99,374,249...99,394,816
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ATM
ATM serine/threonine kinase
disease_progression
IEP
protein:increased expression:mucosa of oral region (human)
RGD
PMID:29928356 PMID:18288488
RGD:150340604 , RGD:150340709
NCBI chr11:108,223,067...108,369,102
Ensembl chr11:108,222,804...108,369,102
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ATP6V1C1
ATPase H+ transporting V1 subunit C1
IEP
RGD
PMID:26984774
RGD:14700648
NCBI chr 8:103,021,083...103,073,051
Ensembl chr 8:103,021,063...103,073,051
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AXIN1
axin 1
disease_progression
IEP
protein:decreased expression:oral epithelium (human) mRNA:increased expression:oral epithelium (human)
RGD
PMID:17143481 PMID:21393552
RGD:150530474 , RGD:150530486
NCBI chr16:287,440...352,723
Ensembl chr16:287,440...352,723
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AXIN2
axin 2
susceptibility ameliorates disease_progression
IAGP IMP IEP
DNA:SNP:intron: C>T (rs3923087)(human)
RGD
PMID:21393552 PMID:33046030 PMID:33046030
RGD:150530486 , RGD:151356656 , RGD:151356656
NCBI chr17:65,528,563...65,561,648
Ensembl chr17:65,528,563...65,561,648
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AZGP1
alpha-2-glycoprotein 1, zinc-binding
IEP
protein:increased expression:saliva protein:decreased expression:saliva
RGD
PMID:29199150 PMID:33564003
RGD:153350131 , RGD:153350144
NCBI chr 7:99,966,730...99,976,031
Ensembl chr 7:99,966,720...99,976,042
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BARHL2
BarH like homeobox 2
IDA IEP
protein:decreased expression:mouth mucosa
RGD
PMID:27542258 PMID:27542258
RGD:14390167 , RGD:14390167
NCBI chr 1:90,711,539...90,717,302
Ensembl chr 1:90,711,539...90,717,302
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BCL2L1
BCL2 like 1
IEP
mRNA, protein:increased expression:mouth (human)
RGD
PMID:34111459
RGD:153344573
NCBI chr20:31,664,452...31,723,963
Ensembl chr20:31,664,452...31,723,989
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BHLHE41
basic helix-loop-helix family member e41
treatment
IEP
Human cells in mouse model
RGD
PMID:27602964
RGD:151665310
NCBI chr12:26,120,030...26,125,037
Ensembl chr12:26,120,030...26,125,037
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BIRC2
baculoviral IAP repeat containing 2
IEP
protein:increased expression:oral cavity (human)
RGD
PMID:20967871
RGD:152999012
NCBI chr11:102,347,214...102,378,670
Ensembl chr11:102,347,211...102,378,670
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BIRC3
baculoviral IAP repeat containing 3
disease_progression ameliorates
IEP
protein:increased expression:oral cavity (human) mRNA:increased expression:oral cavity (human) protein:decreased expression:oral cavity (human)
RGD
PMID:23852810 PMID:20967871 PMID:29286141 PMID:21952624
RGD:152998980 , RGD:152999012 , RGD:152999009 , RGD:152998987
NCBI chr11:102,317,484...102,339,403
Ensembl chr11:102,317,484...102,339,403
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BIRC5
baculoviral IAP repeat containing 5
IEP
protein:increased expression:oral cavity (human)
RGD
PMID:20967871
RGD:152999012
NCBI chr17:78,214,253...78,225,635
Ensembl chr17:78,214,186...78,225,636
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BRINP2
BMP/retinoic acid inducible neural specific 2
IAGP
DNA:amplication:oral epithelium
RGD
PMID:21334929
RGD:14398483
NCBI chr 1:177,170,958...177,282,422
Ensembl chr 1:177,170,958...177,282,422
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BST2
bone marrow stromal cell antigen 2
disease_progression
IEP
RGD
PMID:24706327
RGD:14398491
NCBI chr19:17,402,939...17,405,630
Ensembl chr19:17,402,939...17,405,630
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BTK
Bruton tyrosine kinase
treatment
HEP
mRNA:increased expression:oral epithelium (human)
RGD
PMID:33640903
RGD:151347851
NCBI chr X:101,349,450...101,390,796
Ensembl chr X:101,349,338...101,390,796
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CA12
carbonic anhydrase 12
disease_progression
HEP
RGD
PMID:22172588
RGD:153352330
NCBI chr15:63,321,378...63,381,846
Ensembl chr15:63,321,378...63,381,846
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CALR
calreticulin
exacerbates
IEP HEP
protein:increased expression:oral epithelium (human) protein:increased expression:mouth (human)
RGD
PMID:28599487 PMID:23375593
RGD:150520158 , RGD:150521688
NCBI chr19:12,938,609...12,944,489
Ensembl chr19:12,938,578...12,944,489
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CAMK2N1
calcium/calmodulin dependent protein kinase II inhibitor 1
IEP
RGD
PMID:30205384
RGD:18337270
NCBI chr 1:20,482,391...20,486,210
Ensembl chr 1:20,482,391...20,486,210
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CBX2
chromobox 2
disease_progression
IEP
RGD
PMID:24885002
RGD:9586732
NCBI chr17:79,777,311...79,787,983
Ensembl chr17:79,778,148...79,787,983
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CCL2
C-C motif chemokine ligand 2
susceptibility disease_progression
IAGP ISO
DNA:polymorphism,haplotype::2518A>G(human) associated with social isolation;protein:increased expression:tongue (rat)
RGD
PMID:21883707 PMID:33411841
RGD:8661694 , RGD:152998999
NCBI chr17:34,255,285...34,257,203
Ensembl chr17:34,255,274...34,257,208
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CCR2
C-C motif chemokine receptor 2
susceptibility
IAGP
DNA:polymorphism,haplotype:cds:p.V64I(human)
RGD
PMID:21883707
RGD:8661694
NCBI chr 3:46,354,111...46,360,940
Ensembl chr 3:46,353,864...46,360,940
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CDC73
cell division cycle 73
IEP
mRNA:altered expression: tongue, oral cavity (human)
RGD
PMID:24257751
RGD:150537040
NCBI chr 1:193,122,031...193,254,815
Ensembl chr 1:193,121,983...193,254,815
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CDH1
cadherin 1
disease_progression
IEP
RGD
PMID:26464646
RGD:11526681
NCBI chr16:68,737,292...68,835,537
Ensembl chr16:68,737,292...68,835,537
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CDKN1A
cyclin dependent kinase inhibitor 1A
susceptibility no_association disease_progression
IAGP IEP
DNA:polymorphism:exon:149A>G(human) DNA:polymorphism: :98C>A(human)
RGD
PMID:10873097 PMID:18251939 PMID:15817070 PMID:10873097
RGD:8662371 , RGD:8662395 , RGD:8662374 , RGD:8662371
NCBI chr 6:36,676,463...36,687,332
Ensembl chr 6:36,676,460...36,687,397
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CERS1
ceramide synthase 1
exacerbates
ISO
RGD
PMID:33753723
RGD:156431057
NCBI chr19:18,868,545...18,896,982
Ensembl chr19:18,868,545...18,896,727
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CHAF1B
chromatin assembly factor 1 subunit B
disease_progression
IEP
protein:increased expression:mouth mucosa:
RGD
PMID:22882088
RGD:9587477
NCBI chr21:36,385,392...36,419,015
Ensembl chr21:36,385,392...36,419,015
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CLPTM1L
CLPTM1 like
susceptibility
IAGP
DNA:SNP: :rs402710(human)
RGD
PMID:28025427
RGD:150530487
NCBI chr 5:1,317,752...1,345,099
Ensembl chr 5:1,317,752...1,345,099
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CTNND1
catenin delta 1
disease_progression
IEP
RGD
PMID:26464646
RGD:11526681
NCBI chr11:57,761,802...57,819,540
Ensembl chr11:57,753,243...57,819,546
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CYP1A1
cytochrome P450 family 1 subfamily A member 1
IAGP
RGD
PMID:22660220
RGD:14700952
NCBI chr15:74,719,542...74,725,528
Ensembl chr15:74,719,542...74,725,536
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CYP24A1
cytochrome P450 family 24 subfamily A member 1
susceptibility
IAGP
DNA:SNP:exon: (rs2296241) (human)
RGD
PMID:22612324
RGD:151665337
NCBI chr20:54,143,538...54,173,986
Ensembl chr20:54,153,446...54,173,986
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CYP2E1
cytochrome P450 family 2 subfamily E member 1
IAGP
RGD
PMID:22954124
RGD:14700880
NCBI chr10:133,527,363...133,539,123
Ensembl chr10:133,520,406...133,561,220
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DAXX
death domain associated protein
ameliorates
IMP
human cell line in a mouse model
RGD
PMID:26205068
RGD:152025200
NCBI chr 6:33,318,558...33,322,959
Ensembl chr 6:33,318,558...33,323,016
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DDR1
discoidin domain receptor tyrosine kinase 1
IEP
mRNA, protein:increased expression:mouth (human)
RGD
PMID:31253192
RGD:151347620
NCBI chr 6:30,880,970...30,900,156
Ensembl chr 6:30,876,421...30,900,156
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DDR2
discoidin domain receptor tyrosine kinase 2
severity
IDA
RGD
PMID:29945346
RGD:150429700
NCBI chr 1:162,630,863...162,787,405
Ensembl chr 1:162,631,373...162,787,405
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DNMT3B
DNA methyltransferase 3 beta
disease_progression
IEP IMP
RGD
PMID:24625449 PMID:24625449
RGD:9589120 , RGD:9589120
NCBI chr20:32,762,385...32,809,356
Ensembl chr20:32,762,385...32,809,359
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DOCK6
dedicator of cytokinesis 6
disease_progression
IEP
RGD
PMID:34742001
RGD:155791563
NCBI chr19:11,199,295...11,262,524
Ensembl chr19:11,199,295...11,262,524
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EFNB2
ephrin B2
HEP
protein:increased expression:oral mucosa (human)
RGD
PMID:26044849
RGD:153323290
NCBI chr13:106,489,745...106,535,662
Ensembl chr13:106,489,745...106,535,662
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EGFR
epidermal growth factor receptor
IEP
RGD
PMID:11673832
RGD:126781761
NCBI chr 7:55,019,017...55,211,628
Ensembl chr 7:55,019,017...55,211,628
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ERBB2
erb-b2 receptor tyrosine kinase 2
IEP
RGD
PMID:11673832
RGD:126781761
NCBI chr17:39,688,094...39,728,658
Ensembl chr17:39,687,914...39,730,426
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ERBB4
erb-b2 receptor tyrosine kinase 4
disease_progression
IEP
RGD
PMID:14595263
RGD:126781770
NCBI chr 2:211,375,717...212,538,802
Ensembl chr 2:211,375,717...212,538,841
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EZH2
enhancer of zeste 2 polycomb repressive complex 2 subunit
susceptibility
IEP IAGP
associated with oral mucosa leukoplakia DNA:SNPs, haplotypes: :multiple
RGD
PMID:24122997 PMID:21697275 PMID:26807327
RGD:126779588 , RGD:126781699 , RGD:126779606
NCBI chr 7:148,807,383...148,884,291
Ensembl chr 7:148,807,257...148,884,321
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FAT1
FAT atypical cadherin 1
onset
ISO IAGP
protein:increased expression:tongue (mouse) DNA:mutations:multiple
RGD
PMID:30624777 PMID:28435450
RGD:151347668 , RGD:151347687
NCBI chr 4:186,587,794...186,726,696
Ensembl chr 4:186,587,794...186,726,722
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FGFR3
fibroblast growth factor receptor 3
IAGP
associated with human papillomavirus;DNA:missense mutation:cds: p.S249C (human)
RGD
PMID:30563911
RGD:38500239
NCBI chr 4:1,793,293...1,808,867
Ensembl chr 4:1,793,293...1,808,872
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FGFR4
fibroblast growth factor receptor 4
severity
IAGP
DNA:SNP:exon 9: p.G388R (human)
RGD
PMID:20127014
RGD:150520164
NCBI chr 5:177,086,915...177,098,144
Ensembl chr 5:177,086,905...177,098,144
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FLT3
fms related receptor tyrosine kinase 3
HDA IEP
mRNA:decreased expression:oral epithelium (human)
RGD
PMID:32048621 PMID:32048621
RGD:149735374 , RGD:149735374
NCBI chr13:28,003,274...28,100,576
Ensembl chr13:28,003,274...28,100,592
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FOSL2
FOS like 2, AP-1 transcription factor subunit
IEP
mRNA, protein:increased expression:mouth (human)
RGD
PMID:34111459
RGD:153344573
NCBI chr 2:28,392,858...28,417,317
Ensembl chr 2:28,392,448...28,417,317
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GAPDH
glyceraldehyde-3-phosphate dehydrogenase
ISO
RGD
PMID:27375172
RGD:13792673
NCBI chr12:6,534,517...6,538,371
Ensembl chr12:6,534,512...6,538,374
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GPX1
glutathione peroxidase 1
exacerbates
HEP
protein:increased expression:oral cavity (human)
RGD
PMID:28653098
RGD:152995473
NCBI chr 3:49,357,176...49,358,353
Ensembl chr 3:49,357,174...49,358,605
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GPX4
glutathione peroxidase 4
disease_progression
HEP
protein:increased expression:oral cavity (human)
RGD
PMID:28653098
RGD:152995473
NCBI chr19:1,103,994...1,106,779
Ensembl chr19:1,103,982...1,106,791
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GSK3B
glycogen synthase kinase 3 beta
susceptibility
IAGP
DNA:SNP:intron: (rs9879992) (human)
RGD
PMID:21393552
RGD:150530486
NCBI chr 3:119,821,321...120,094,447
Ensembl chr 3:119,821,321...120,094,994
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GSTM1
glutathione S-transferase mu 1
severity
IAGP
DNA:deletion: : (human)
RGD
PMID:22213390 PMID:14662415
RGD:12792245 , RGD:14700962
NCBI chr 1:109,687,817...109,693,745
Ensembl chr 1:109,687,814...109,709,039
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GSTP1
glutathione S-transferase pi 1
IEP
mRNA,protein:decreased expression:mucosa:
RGD
PMID:16982972
RGD:10755432
NCBI chr11:67,583,812...67,586,653
Ensembl chr11:67,583,742...67,586,656
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H2AX
H2A.X variant histone
disease_progression
IEP
protein:increased expression:mucosa of oral region (human)
RGD
PMID:29928356
RGD:150340604
NCBI chr11:119,093,874...119,095,465
Ensembl chr11:119,093,874...119,095,465
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HES1
hes family bHLH transcription factor 1
ISO
protein:increased expression:tongue (mouse)
RGD
PMID:30624777
RGD:151347668
NCBI chr 3:194,136,148...194,138,732
Ensembl chr 3:194,136,148...194,138,732
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HP
haptoglobin
IEP
protein:increased expression:saliva
RGD
PMID:29199150
RGD:153350131
NCBI chr16:72,054,505...72,061,055
Ensembl chr16:72,054,505...72,061,055
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IL10
interleukin 10
susceptibility
IAGP
DNA:SNP:promoter:-592A>C (human)
RGD
PMID:28157558
RGD:14975130
NCBI chr 1:206,767,602...206,772,494
Ensembl chr 1:206,767,602...206,774,541
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IL13RA2
interleukin 13 receptor subunit alpha 2
IEP
RGD
PMID:19065664
RGD:8549498
NCBI chr X:115,003,982...115,017,616
Ensembl chr X:115,003,975...115,019,977
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IL1B
interleukin 1 beta
disease_progression
ISO
associated with social isolation;protein:increased expression:tongue (rat)
RGD
PMID:33411841
RGD:152998999
NCBI chr 2:112,829,751...112,836,779
Ensembl chr 2:112,829,751...112,836,816
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IL2
interleukin 2
IDA
RGD
PMID:10389944
RGD:8662949
NCBI chr 4:122,451,470...122,456,725
Ensembl chr 4:122,451,470...122,456,725
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IL6
interleukin 6
disease_progression
IEP
RGD
PMID:24625449
RGD:9589120
NCBI chr 7:22,727,200...22,731,998
Ensembl chr 7:22,725,884...22,732,002
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JUN
Jun proto-oncogene, AP-1 transcription factor subunit
IEP
mRNA, protein:increased expression:mouth (human)
RGD
PMID:34111459
RGD:153344573
NCBI chr 1:58,780,791...58,784,047
Ensembl chr 1:58,776,845...58,784,048
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JUNB
JunB proto-oncogene, AP-1 transcription factor subunit
IEP
associated with papillomavirus infectious disease;protein:increased expression:oral cavity (human)
RGD
PMID:28155253
RGD:151347666
NCBI chr19:12,791,486...12,793,315
Ensembl chr19:12,791,486...12,793,315
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KMT2D
lysine methyltransferase 2D
severity
IEP
RGD
PMID:31660637
RGD:150521713
NCBI chr12:49,018,978...49,060,794
Ensembl chr12:49,018,975...49,060,794
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MCPH1
microcephalin 1
IEP
mRNA:protein:decreased expression:oral cavity, tissue (human)
RGD
PMID:23472065
RGD:9589036
NCBI chr 8:6,406,627...6,648,508
Ensembl chr 8:6,406,592...6,648,508
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MET
MET proto-oncogene, receptor tyrosine kinase
IEP
protein:increased expression, altered expression:mouth mucosa:
RGD
PMID:20662906
RGD:8548617
NCBI chr 7:116,672,196...116,798,377
Ensembl chr 7:116,672,196...116,798,377
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MIR155
microRNA 155
disease_progression
IEP
RGD
PMID:30194167 PMID:28413645 PMID:29909906
RGD:21079420 , RGD:24922225 , RGD:21079468
NCBI chr21:25,573,980...25,574,044
Ensembl chr21:25,573,980...25,574,044
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MIR187
microRNA 187
IEP
RNA:increased expression:plasma
RGD
PMID:27542258
RGD:14390167
NCBI chr18:35,904,818...35,904,926
Ensembl chr18:35,904,818...35,904,926
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MIR20A
microRNA 20a
IEP
RGD
PMID:26781875
RGD:26884343
NCBI chr13:91,351,065...91,351,135
Ensembl chr13:91,351,065...91,351,135
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MIR221
microRNA 221
exacerbates
IDA
RGD
PMID:21226887
RGD:151708999
NCBI chr X:45,746,157...45,746,266
Ensembl chr X:45,746,157...45,746,266
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MIR222
microRNA 222
disease_progression exacerbates
IEP IDA
RGD
PMID:31841247 PMID:21226887
RGD:151708741 , RGD:151708999
NCBI chr X:45,747,015...45,747,124
Ensembl chr X:45,747,015...45,747,124
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MIR31
microRNA 31
treatment
IEP
RGD
PMID:20233326
RGD:153297767
NCBI chr 9:21,512,115...21,512,185
Ensembl chr 9:21,512,115...21,512,185
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MIR585
microRNA 585
IEP
mRNA:altered expression:oral mucosa (human)
RGD
PMID:21795477
RGD:152995504
NCBI chr 5:169,263,601...169,263,694
Ensembl chr 5:169,263,601...169,263,694
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MTHFR
methylenetetrahydrofolate reductase
susceptibility
IAGP
DNA:missense mutation:cds:677C>T (human)
RGD
PMID:16365753
RGD:10449416
NCBI chr 1:11,785,723...11,805,964
Ensembl chr 1:11,785,723...11,806,455
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NAIP
NLR family apoptosis inhibitory protein
IEP
protein:increased expression:oral cavity (human)
RGD
PMID:20967871
RGD:152999012
NCBI chr 5:70,968,166...71,025,339
Ensembl chr 5:70,968,166...71,025,339
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NOTCH1
notch receptor 1
ISO
protein:increased expression:tongue (mouse)
RGD
PMID:30624777
RGD:151347668
NCBI chr 9:136,494,433...136,546,048
Ensembl chr 9:136,494,433...136,546,048
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PECAM1
platelet and endothelial cell adhesion molecule 1
HEP
protein:decreased expression:oral mucosa (human)
RGD
PMID:26044849
RGD:153323290
NCBI chr17:64,319,415...64,390,860
Ensembl chr17:64,319,415...64,413,776
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PLAU
plasminogen activator, urokinase
severity
IEP
protein:increased expression:oral mucosa (rat)
RGD
PMID:15878520
RGD:8547730
NCBI chr10:73,909,164...73,917,494
Ensembl chr10:73,909,177...73,917,496
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PLCG1
phospholipase C gamma 1
disease_progression ameliorates
IEP
protein:decreased expression:oral cavity (human)
RGD
PMID:26464646 PMID:25085076
RGD:11526681 , RGD:151356936
NCBI chr20:41,137,543...41,177,626
Ensembl chr20:41,136,960...41,196,801
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PRDX2
peroxiredoxin 2
IEP
protein:increased expression:saliva
RGD
PMID:29199150
RGD:153350131
NCBI chr19:12,796,823...12,801,800
Ensembl chr19:12,796,820...12,801,800
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PTEN
phosphatase and tensin homolog
disease_progression
IEP
protein:increased expression:oral epithelium (human)
RGD
PMID:33109573
RGD:127285606
NCBI chr10:87,863,625...87,971,930
Ensembl chr10:87,862,638...87,971,930
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PTGIS
prostaglandin I2 synthase
IEP
mRNA,protein:decreased expression:mouth mucosa (human)
RGD
PMID:30532780
RGD:151347832
NCBI chr20:49,503,874...49,568,137
Ensembl chr20:49,503,874...49,568,137
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PTPN13
protein tyrosine phosphatase non-receptor type 13
treatment
IEP
RGD
PMID:21176871
RGD:152600900
NCBI chr 4:86,594,315...86,815,161
Ensembl chr 4:86,594,315...86,815,171
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RAD21
RAD21 cohesin complex component
exacerbates
IEP
mRNA:decreased expression:oral cavity (human)
RGD
PMID:16416296
RGD:150520028
NCBI chr 8:116,845,934...116,874,776
Ensembl chr 8:116,845,934...116,874,776
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RELA
RELA proto-oncogene, NF-kB subunit
IEP
protein:increased expression:mouth (human)
RGD
PMID:34111459
RGD:153344573
NCBI chr11:65,653,601...65,663,857
Ensembl chr11:65,653,599...65,663,090
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SERPINE1
serpin family E member 1
severity disease_progression
IEP
protein:increased expression:oral mucosa (rat)
RGD
PMID:15878520 PMID:24999729
RGD:8547730 , RGD:13208508
NCBI chr 7:101,127,104...101,139,247
Ensembl chr 7:101,127,104...101,139,247
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SKP2
S-phase kinase associated protein 2
IEP
protein:increased expression:mucosa of oral region (human)
RGD
PMID:24743017
RGD:151665336
NCBI chr 5:36,152,111...36,193,530
Ensembl chr 5:36,151,989...36,196,849
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SLC7A5
solute carrier family 7 member 5
severity
IEP
RGD
PMID:23801167
RGD:151361213
NCBI chr16:87,830,023...87,869,507
Ensembl chr16:87,830,016...87,869,507
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SOX2
SRY-box transcription factor 2
IEP
protein:increased expression:oral epithelium
RGD
PMID:30981761
RGD:597538586
NCBI chr 3:181,711,925...181,714,436
Ensembl chr 3:181,711,925...181,714,436
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TERT
telomerase reverse transcriptase
susceptibility
IAGP
DNA:SNPs: :rs2736100,rs2736098(human)
RGD
PMID:28025427
RGD:150530487
NCBI chr 5:1,253,167...1,295,068
Ensembl chr 5:1,253,147...1,295,068
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TET2
tet methylcytosine dioxygenase 2
IEP
protein:decreased expression:oral epithelium (human)
RGD
PMID:24122999
RGD:150429611
NCBI chr 4:105,145,875...105,279,803
Ensembl chr 4:105,145,875...105,279,816
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TNF
tumor necrosis factor
disease_progression
ISO
associated with social isolation;protein:increased expression:tongue (rat)
RGD
PMID:33411841
RGD:152998999
NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336
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TP53
tumor protein p53
IAGP ISO
DNA:missense mutations: :multiple protein:increased expression:mouth (human)
RGD
PMID:27283772 PMID:34111459
RGD:14995497 , RGD:153344573
NCBI chr17:7,668,421...7,687,490
Ensembl chr17:7,661,779...7,687,546
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TTR
transthyretin
IEP
protein:increased expression:saliva (human)
RGD
PMID:23784731
RGD:151664609
NCBI chr18:31,591,877...31,598,821
Ensembl chr18:31,557,009...31,598,833
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VEGFA
vascular endothelial growth factor A
HEP
protein:increased expression:oral mucosa (human)
RGD
PMID:26044849
RGD:153323290
NCBI chr 6:43,770,211...43,786,487
Ensembl chr 6:43,770,184...43,786,487
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WNT11
Wnt family member 11
susceptibility
IAGP
DNA:SNP:exon: A>G (rs1533767) (human)
RGD
PMID:21393552
RGD:150530486
NCBI chr11:76,186,325...76,210,761
Ensembl chr11:76,186,325...76,210,736
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RSPO1
R-spondin 1
IAGP EXP
ClinVar Annotator: match by term: Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and 46,XX sex reversal ClinVar Annotator: match by term: RSPO1-related condition CTD Direct Evidence: marker/mechanism
ClinVar CTD OMIM
PMID:16158431 PMID:17041600 PMID:25741868 PMID:28492532
NCBI chr 1:37,611,350...37,634,892
Ensembl chr 1:37,611,350...37,634,892
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TGFB2
transforming growth factor beta 2
ameliorates
IMP
human cells in a mouse model
RGD
PMID:21366804
RGD:155630611
NCBI chr 1:218,345,336...218,444,619
Ensembl chr 1:218,345,336...218,444,619
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KISS1R
KISS1 receptor
IEP
RGD
PMID:11994395
RGD:1599280
NCBI chr19:917,333...921,005
Ensembl chr19:917,287...921,005
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VEGFC
vascular endothelial growth factor C
disease_progression
IEP
associated with thyroid diseases;mRNA:increased expression:thyroid gland:
RGD
PMID:12203051
RGD:7483611
NCBI chr 4:176,683,538...176,792,922
Ensembl chr 4:176,683,538...176,792,922
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BIRC3
baculoviral IAP repeat containing 3
exacerbates
HEP
mRNA:increased expression:kidney (human)
RGD
PMID:31964418
RGD:153344516
NCBI chr11:102,317,484...102,339,403
Ensembl chr11:102,317,484...102,339,403
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BIRC5
baculoviral IAP repeat containing 5
disease_progression
HEP
mRNA:increased expression:kidney (human)
RGD
PMID:31964418
RGD:153344516
NCBI chr17:78,214,253...78,225,635
Ensembl chr17:78,214,186...78,225,636
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MET
MET proto-oncogene, receptor tyrosine kinase
IAGP
OMIM
NCBI chr 7:116,672,196...116,798,377
Ensembl chr 7:116,672,196...116,798,377
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MIR210
microRNA 210
IEP
miRNA:increased expression:kidney (human)
RGD
PMID:23449350
RGD:155260320
NCBI chr11:568,089...568,198
Ensembl chr11:568,089...568,198
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PRCC
proline rich mitotic checkpoint control factor
IAGP
OMIM
NCBI chr 1:156,767,535...156,800,815
Ensembl chr 1:156,750,610...156,800,815
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XIAP
X-linked inhibitor of apoptosis
exacerbates
HEP
mRNA:increased expression:kidney (human)
RGD
PMID:31964418
RGD:153344516
NCBI chr X:123,859,708...123,913,972
Ensembl chr X:123,859,712...123,913,972
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CCND1
cyclin D1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:12151359
NCBI chr11:69,641,156...69,654,474
Ensembl chr11:69,641,156...69,654,474
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CDKN1A
cyclin dependent kinase inhibitor 1A
IEP EXP ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:12151359 PMID:11684723 PMID:10430900
RGD:8662351 , RGD:8662432
NCBI chr 6:36,676,463...36,687,332
Ensembl chr 6:36,676,460...36,687,397
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EGFR
epidermal growth factor receptor
susceptibility
ISO EXP
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:8603490 PMID:10943841
RGD:734919
NCBI chr 7:55,019,017...55,211,628
Ensembl chr 7:55,019,017...55,211,628
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ERBB2
erb-b2 receptor tyrosine kinase 2
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:8603490
NCBI chr17:39,688,094...39,728,658
Ensembl chr17:39,687,914...39,730,426
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HRAS
HRas proto-oncogene, GTPase
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:8330346
NCBI chr11:532,242...535,576
Ensembl chr11:532,242...537,321
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MAP2K4
mitogen-activated protein kinase kinase 4
ISO
RGD
PMID:20610622
RGD:7495823
NCBI chr17:12,020,877...12,143,828
Ensembl chr17:12,020,829...12,143,830
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MMP2
matrix metallopeptidase 2
treatment
ISO
associated with Skin Neoplasms
RGD
PMID:20619141
RGD:8657035
NCBI chr16:55,478,830...55,506,691
Ensembl chr16:55,389,700...55,506,691
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NQO1
NAD(P)H quinone dehydrogenase 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:9496914
NCBI chr16:69,709,401...69,726,560
Ensembl chr16:69,706,996...69,726,668
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ODC1
ornithine decarboxylase 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:17928125
NCBI chr 2:10,439,968...10,448,327
Ensembl chr 2:10,439,968...10,448,327
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PLA2G4A
phospholipase A2 group IVA
ISO
associated with Bladder Neoplasms;mRNA:increased expression:bladder
RGD
PMID:16621493
RGD:1642457
NCBI chr 1:186,828,949...186,988,981
Ensembl chr 1:186,828,949...186,988,981
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PTGES
prostaglandin E synthase
ISO
mRNA:increased expression:urinary bladder
RGD
PMID:16621493
RGD:1642457
NCBI chr 9:129,738,349...129,753,042
Ensembl chr 9:129,738,331...129,753,042
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PTGS2
prostaglandin-endoperoxide synthase 2
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:12151359 PMID:16144915
NCBI chr 1:186,671,791...186,680,423
Ensembl chr 1:186,671,791...186,680,922
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SOD2
superoxide dismutase 2
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:11507057
NCBI chr 6:159,669,069...159,762,281
Ensembl chr 6:159,669,069...159,762,529
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SPRR1A
small proline rich protein 1A
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:8617999
NCBI chr 1:152,984,081...152,985,814
Ensembl chr 1:152,984,081...152,985,814
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TGFA
transforming growth factor alpha
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:8603490
NCBI chr 2:70,447,284...70,553,826
Ensembl chr 2:70,447,284...70,554,193
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TGFB1
transforming growth factor beta 1
disease_progression
ISO EXP
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:20172950 PMID:7954410
RGD:7394796
NCBI chr19:41,330,323...41,353,922
Ensembl chr19:41,301,587...41,353,922
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TYR
tyrosinase
treatment
ISO
RGD
PMID:15007389
RGD:8694346
NCBI chr11:89,177,875...89,295,759
Ensembl chr11:89,177,875...89,295,759
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LATS1
large tumor suppressor kinase 1
IAGP
ClinVar Annotator: match by term: Malignant peritoneal mesothelioma
ClinVar
NCBI chr 6:149,658,153...149,718,101
Ensembl chr 6:149,658,153...149,718,105
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LATS2
large tumor suppressor kinase 2
IAGP
ClinVar Annotator: match by term: Malignant peritoneal mesothelioma
ClinVar
NCBI chr13:20,973,036...21,061,586
Ensembl chr13:20,973,036...21,061,586
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MECOM
MDS1 and EVI1 complex locus
IAGP
ClinVar Annotator: match by term: Malignant peritoneal mesothelioma
ClinVar
NCBI chr 3:169,083,507...169,663,712
Ensembl chr 3:169,083,499...169,663,775
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TRAF7
TNF receptor associated factor 7
IAGP
DNA:missense mutations:multiple
RGD
PMID:30171198
RGD:151356964
NCBI chr16:2,155,782...2,178,129
Ensembl chr16:2,155,698...2,178,129
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CLPTM1L
CLPTM1 like
sexual_dimorphism
IAGP
in males;DNA:SNP: :rs401681(human)
RGD
PMID:31429604
RGD:150530637
NCBI chr 5:1,317,752...1,345,099
Ensembl chr 5:1,317,752...1,345,099
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CDKN2A
cyclin dependent kinase inhibitor 2A
ISO
DNA:deletion
RGD
PMID:20065947
RGD:7248760
NCBI chr 9:21,967,752...21,995,324
Ensembl chr 9:21,967,752...21,995,301
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ANXA1
annexin A1
IEP
RGD
PMID:8919037
RGD:7421562
NCBI chr 9:73,151,865...73,170,393
Ensembl chr 9:73,151,865...73,170,629
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FGFR3
fibroblast growth factor receptor 3
IAGP
ClinVar Annotator: match by term: Keratosis Seborrheica
ClinVar
PMID:1908846 PMID:7773297 PMID:8589699 PMID:8640234 PMID:8858131 PMID:9438390 PMID:9677066 PMID:10073901 PMID:10471491 PMID:10696568 PMID:11038465 PMID:11241532 PMID:11529856 PMID:11879084 PMID:12833394 PMID:15772091 PMID:16501574 PMID:16841094 PMID:17384684 PMID:18000976 PMID:18642369 PMID:19749790 PMID:20301540 PMID:20420824 PMID:22045636 PMID:24864036 PMID:25606676 PMID:25614871 PMID:25741868 PMID:26740388 PMID:28492532 PMID:29593476 PMID:31299979 PMID:36135330 PMID:36474027 More...
NCBI chr 4:1,793,293...1,808,867
Ensembl chr 4:1,793,293...1,808,872
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PIK3CA
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha
IAGP EXP
ClinVar Annotator: match by term: Keratosis Seborrheica | ClinVar Annotator: match by term: Seborrheic keratosis CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:15016963 PMID:15520168 PMID:15608678 PMID:15930273 PMID:17376864 PMID:17673550 PMID:20593314 PMID:21078999 PMID:22370636 PMID:22658544 PMID:22729222 PMID:22729223 PMID:22729224 PMID:23066039 PMID:23100325 PMID:23946963 PMID:24033266 PMID:24782230 PMID:25599672 PMID:25741868 PMID:25880439 PMID:26266975 PMID:26266985 PMID:26627007 PMID:26637981 PMID:26822237 PMID:27126994 PMID:27626068 PMID:27631024 PMID:28151489 PMID:28425981 PMID:28492532 PMID:29661094 PMID:29988677 PMID:30376034 PMID:30543347 PMID:31536475 PMID:31775759 PMID:33054853 PMID:34008892 PMID:34496175 PMID:35483878 PMID:37667289 PMID:37712948 More...
NCBI chr 3:179,148,126...179,240,093
Ensembl chr 3:179,148,114...179,240,093
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CCL20
C-C motif chemokine ligand 20
IEP
protein:decreased expression:skin
RGD
PMID:21715145
RGD:7483622
NCBI chr 2:227,813,842...227,817,556
Ensembl chr 2:227,805,739...227,817,564
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CLU
clusterin
ISO
RGD
PMID:11085517
RGD:8746700
NCBI chr 8:27,596,917...27,614,700
Ensembl chr 8:27,596,917...27,614,700
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FGF10
fibroblast growth factor 10
ISO
protein:increased expression:skin (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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MIR21
microRNA 21
ameliorates
ISO
RGD
PMID:21646541
RGD:41404663
NCBI chr17:59,841,266...59,841,337
Ensembl chr17:59,841,266...59,841,337
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NRG1
neuregulin 1
HEP
DNA:hypermethylation:
RGD
PMID:31892232
RGD:39456089
NCBI chr 8:31,639,245...32,774,046
Ensembl chr 8:31,639,222...32,855,666
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TLR2
toll like receptor 2
IEP
protein:increased expression,altered expression:cytoplasm,membrane, nucleus:
RGD
PMID:24617037
RGD:8553046
NCBI chr 4:153,684,280...153,710,637
Ensembl chr 4:153,684,050...153,706,260
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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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MYC
MYC proto-oncogene, bHLH transcription factor
severity
IEP
mRNA:increased expression:renal cortex (human) protein:increased expression:kidney (human)
RGD
PMID:19384955 PMID:17409424
RGD:7240562 , RGD:7240563
NCBI chr 8:127,735,434...127,742,951
Ensembl chr 8:127,735,434...127,742,951
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ADAM19
ADAM metallopeptidase domain 19
IAGP
ClinVar Annotator: match by term: Squamous cell carcinoma
ClinVar
PMID:27993330
NCBI chr 5:157,477,304...157,575,775
Ensembl chr 5:157,395,534...157,575,775
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ADAMTSL3
ADAMTS like 3
IAGP
ClinVar Annotator: match by term: Squamous cell carcinoma
ClinVar
PMID:27993330
NCBI chr15:83,654,123...84,039,842
Ensembl chr15:83,654,088...84,039,842
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AFAP1L2
actin filament associated protein 1 like 2
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:29059373
NCBI chr10:114,280,725...114,405,175
Ensembl chr10:114,294,824...114,404,756
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AKT1
AKT serine/threonine kinase 1
EXP IAGP
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Squamous cell carcinoma
CTD ClinVar
PMID:21351258 PMID:27993330
NCBI chr14:104,769,349...104,795,748
Ensembl chr14:104,769,349...104,795,759
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ANXA1
annexin A1
IEP EXP
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:15274141 PMID:8919037
RGD:7421562
NCBI chr 9:73,151,865...73,170,393
Ensembl chr 9:73,151,865...73,170,629
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ANXA2
annexin A2
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:15274141
NCBI chr15:60,347,151...60,397,986
Ensembl chr15:60,347,134...60,402,883
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ANXA5
annexin A5
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:15274141
NCBI chr 4:121,667,946...121,696,980
Ensembl chr 4:121,667,946...121,696,995
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APC
APC regulator of WNT signaling pathway
IAGP
ClinVar Annotator: match by term: Squamous cell carcinoma
ClinVar
PMID:27993330
NCBI chr 5:112,707,498...112,846,239
Ensembl chr 5:112,707,518...112,846,239
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APOBEC3B
apolipoprotein B mRNA editing enzyme catalytic subunit 3B
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:23852168
NCBI chr22:38,982,347...38,992,779
Ensembl chr22:38,982,347...38,992,804
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AQP3
aquaporin 3 (Gill blood group)
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:21401805
NCBI chr 9:33,441,160...33,447,593
Ensembl chr 9:33,441,156...33,447,596
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AREG
amphiregulin
EXP
CTD Direct Evidence: therapeutic
CTD
PMID:11237771
NCBI chr 4:74,445,136...74,455,005
Ensembl chr 4:74,445,136...74,455,005
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ATM
ATM serine/threonine kinase
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:25125259
NCBI chr11:108,223,067...108,369,102
Ensembl chr11:108,222,804...108,369,102
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BCL2
BCL2 apoptosis regulator
disease_progression
ISO
Protein:increased expression:tongue;associated with mouth neoplasms
RGD
PMID:16309543
RGD:1599477
NCBI chr18:63,123,346...63,320,090
Ensembl chr18:63,123,346...63,320,128
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BIRC5
baculoviral IAP repeat containing 5
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:26432044
NCBI chr17:78,214,253...78,225,635
Ensembl chr17:78,214,186...78,225,636
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CARD18
caspase recruitment domain family member 18
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:22514692
NCBI chr11:105,137,714...105,139,769
Ensembl chr11:105,137,714...105,531,697
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CAV1
caveolin 1
ISO
RGD
PMID:23267770
RGD:8661786
NCBI chr 7:116,525,009...116,561,185
Ensembl chr 7:116,524,994...116,561,179
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CCL2
C-C motif chemokine ligand 2
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:25199511
NCBI chr17:34,255,285...34,257,203
Ensembl chr17:34,255,274...34,257,208
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CCND1
cyclin D1
susceptibility
IAGP EXP
associated with Cervix Neoplasms;DNA:polymorphism: :870A>G CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:26432044 PMID:18548202
RGD:2296032
NCBI chr11:69,641,156...69,654,474
Ensembl chr11:69,641,156...69,654,474
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CD163
CD163 molecule
IAGP
ClinVar Annotator: match by term: Squamous cell carcinoma
ClinVar
PMID:27993330
NCBI chr12:7,470,811...7,503,777
Ensembl chr12:7,470,811...7,503,893
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CDH1
cadherin 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:17520682
NCBI chr16:68,737,292...68,835,537
Ensembl chr16:68,737,292...68,835,537
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CDKN1A
cyclin dependent kinase inhibitor 1A
disease_progression
IEP
associated with Varicose Ulcer;protein:increased expression:skin:
RGD
PMID:9655223 PMID:11028856
RGD:8662356 , RGD:8662856
NCBI chr 6:36,676,463...36,687,332
Ensembl chr 6:36,676,460...36,687,397
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CDKN2A
cyclin dependent kinase inhibitor 2A
ISO EXP
DNA:transitions: :multiple CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:25125259 PMID:15057871
RGD:8552295
NCBI chr 9:21,967,752...21,995,324
Ensembl chr 9:21,967,752...21,995,301
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CDKN2B
cyclin dependent kinase inhibitor 2B
IEP
protein:decreased expression:skin
RGD
PMID:18564286
RGD:8548686
NCBI chr 9:22,002,903...22,009,313
Ensembl chr 9:22,002,903...22,009,305
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CEBPA
CCAAT enhancer binding protein alpha
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:17510391 PMID:21346772
NCBI chr19:33,299,934...33,302,534
Ensembl chr19:33,299,934...33,302,534
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CFH
complement factor H
IEP
mRNA:increased expression:skin
RGD
PMID:23938460
RGD:8662319
NCBI chr 1:196,652,043...196,747,504
Ensembl chr 1:196,651,754...196,752,476
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CHRNA3
cholinergic receptor nicotinic alpha 3 subunit
IAGP
ClinVar Annotator: match by term: Squamous cell carcinoma
ClinVar
PMID:27993330
NCBI chr15:78,593,052...78,620,996
Ensembl chr15:78,593,052...78,621,295
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CHRNA5
cholinergic receptor nicotinic alpha 5 subunit
IAGP
ClinVar Annotator: match by term: Squamous cell carcinoma
ClinVar
PMID:27993330
NCBI chr15:78,565,520...78,595,269
Ensembl chr15:78,565,520...78,595,269
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CLDN1
claudin 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:33665778
NCBI chr 3:190,305,707...190,322,446
Ensembl chr 3:190,305,707...190,322,446
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CLU
clusterin
severity
ISO
RGD
PMID:15126350
RGD:8936706
NCBI chr 8:27,596,917...27,614,700
Ensembl chr 8:27,596,917...27,614,700
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CREBBP
CREB binding protein
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:27158780
NCBI chr16:3,725,054...3,880,713
Ensembl chr16:3,725,054...3,880,713
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CRYAB
crystallin alpha B
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:15274141
NCBI chr11:111,908,564...111,923,740
Ensembl chr11:111,908,564...111,923,722
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CSNK2A1
casein kinase 2 alpha 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:18572023
NCBI chr20:472,498...543,790
Ensembl chr20:472,498...543,835
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CSNK2A2
casein kinase 2 alpha 2
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:18572023
NCBI chr16:58,157,907...58,198,106
Ensembl chr16:58,157,907...58,198,106
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CSNK2B
casein kinase 2 beta
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:18572023
NCBI chr 6:31,666,080...31,670,067
Ensembl chr 6:31,665,227...31,670,343
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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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CTTN
cortactin
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:27148699
NCBI chr11:70,398,529...70,436,575
Ensembl chr11:70,398,404...70,436,584
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CXCL8
C-X-C motif chemokine ligand 8
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:15956251
NCBI chr 4:73,740,569...73,743,716
Ensembl chr 4:73,740,519...73,743,716
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CYP1A2
cytochrome P450 family 1 subfamily A member 2
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:22072123
NCBI chr15:74,748,845...74,756,607
Ensembl chr15:74,748,845...74,756,607
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CYP1B1
cytochrome P450 family 1 subfamily B member 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:22114726
NCBI chr 2:38,067,509...38,076,151
Ensembl chr 2:38,066,973...38,109,902
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DSPP
dentin sialophosphoprotein
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:21103065
NCBI chr 4:87,608,529...87,616,873
Ensembl chr 4:87,608,529...87,616,873
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DUSP1
dual specificity phosphatase 1
IEP
mRNA:increased expression:saliva
RGD
PMID:23892499
RGD:7771538
NCBI chr 5:172,768,096...172,771,195
Ensembl chr 5:172,768,096...172,771,195
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EGFR
epidermal growth factor receptor
EXP IAGP
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Squamous cell carcinoma
CTD ClinVar
PMID:12942316 PMID:22042947 PMID:22948846 PMID:27993330
NCBI chr 7:55,019,017...55,211,628
Ensembl chr 7:55,019,017...55,211,628
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EGR1
early growth response 1
IEP IAGP
mRNA:decreased expression:tumor (human) ClinVar Annotator: match by term: Squamous cell carcinoma
ClinVar RGD
PMID:27993330 PMID:11948124
RGD:5131942
NCBI chr 5:138,465,479...138,469,303
Ensembl chr 5:138,465,479...138,469,303
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ENO1
enolase 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:15274141
NCBI chr 1:8,861,000...8,878,686
Ensembl chr 1:8,861,000...8,879,190
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EP300
E1A binding protein p300
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:27158780
NCBI chr22:41,092,592...41,180,077
Ensembl chr22:41,092,510...41,180,077
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ERCC2
ERCC excision repair 2, TFIIH core complex helicase subunit
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:17687452
NCBI chr19:45,349,837...45,370,573
Ensembl chr19:45,349,837...45,370,918
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ERCC6
ERCC excision repair 6, chromatin remodeling factor
severity
ISO
associated with Cockayne Syndrome
RGD
PMID:9150142
RGD:10401099
NCBI chr10:49,434,881...49,539,538
Ensembl chr10:49,454,168...49,539,538
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FAM13A
family with sequence similarity 13 member A
IAGP
ClinVar Annotator: match by term: Squamous cell carcinoma
ClinVar
PMID:27993330
NCBI chr 4:88,725,960...89,057,185
Ensembl chr 4:88,725,955...89,111,398
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FAS
Fas cell surface death receptor
IAGP
ClinVar Annotator: match by term: SQUAMOUS CELL CARCINOMA, BURN SCAR-RELATED, SOMATIC
ClinVar
PMID:10620127
NCBI chr10:88,964,050...89,017,059
Ensembl chr10:88,953,813...89,029,605
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FGF7
fibroblast growth factor 7
IEP
cervical squamous cell carcinoma; mRNA:increased expression:cervical squamous cells
RGD
PMID:17306351
RGD:2289084
NCBI chr15:49,423,242...49,488,775
Ensembl chr15:49,423,237...49,488,775
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FGFR1
fibroblast growth factor receptor 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:22286583 PMID:27794399
NCBI chr 8:38,411,143...38,468,635
Ensembl chr 8:38,400,215...38,468,834
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FGFR2
fibroblast growth factor receptor 2
IEP
cervical squamous cell carcinoma; mRNA:increased expression:cervical squamous cells
RGD
PMID:17306351
RGD:2289084
NCBI chr10:121,478,330...121,598,458
Ensembl chr10:121,478,332...121,598,458
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FHIT
fragile histidine triad diadenosine triphosphatase
IAGP
cervical squamous cell carcinoma; DNA:hypermethylation,loss of heterozygosity:promoter,locus:hypermethylation in 24%, LOH in 10% of tumors
RGD
PMID:17467893
RGD:2289871
NCBI chr 3:59,747,277...61,251,452
Ensembl chr 3:59,747,277...61,251,459
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FLT1
fms related receptor tyrosine kinase 1
IAGP
ClinVar Annotator: match by term: Squamous cell carcinoma
ClinVar
PMID:27993330
NCBI chr13:28,300,346...28,495,128
Ensembl chr13:28,300,346...28,495,145
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FOXA1
forkhead box A1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:32717239
NCBI chr14:37,589,552...37,595,249
Ensembl chr14:37,589,552...37,596,059
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FOXP2
forkhead box P2
IAGP
ClinVar Annotator: match by term: Squamous cell carcinoma
ClinVar
PMID:27993330
NCBI chr 7:114,086,327...114,693,765
Ensembl chr 7:114,086,327...114,693,772
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GAPDH
glyceraldehyde-3-phosphate dehydrogenase
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:15274141
NCBI chr12:6,534,517...6,538,371
Ensembl chr12:6,534,512...6,538,374
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GPX1
glutathione peroxidase 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:15557674
NCBI chr 3:49,357,176...49,358,353
Ensembl chr 3:49,357,174...49,358,605
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GREP1
glycine rich extracellular protein 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:34652879
NCBI chr16:2,988,262...3,002,011
Ensembl chr16:2,988,256...3,002,295
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GSTM1
glutathione S-transferase mu 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:22072123
NCBI chr 1:109,687,817...109,693,745
Ensembl chr 1:109,687,814...109,709,039
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GSTP1
glutathione S-transferase pi 1
IAGP
RGD
PMID:11511301
RGD:6906882
NCBI chr11:67,583,812...67,586,653
Ensembl chr11:67,583,742...67,586,656
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HCAR2
hydroxycarboxylic acid receptor 2
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:21655214
NCBI chr12:122,701,293...122,703,357
Ensembl chr12:122,701,293...122,703,357
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HCAR3
hydroxycarboxylic acid receptor 3
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:21655214
NCBI chr12:122,714,756...122,716,811
Ensembl chr12:122,714,756...122,716,811
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HDAC1
histone deacetylase 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:21527555
NCBI chr 1:32,292,083...32,333,626
Ensembl chr 1:32,292,083...32,333,635
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HDAC2
histone deacetylase 2
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:21527555
NCBI chr 6:113,933,028...113,971,148
Ensembl chr 6:113,933,028...114,011,308
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HGF
hepatocyte growth factor
EXP
CTD Direct Evidence: therapeutic
CTD
PMID:21273587
NCBI chr 7:81,699,010...81,770,047
Ensembl chr 7:81,699,010...81,770,438
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HRAS
HRas proto-oncogene, GTPase
IAGP EXP
associated with Xeroderma Pigmentosum;missense mutations:cds:pG12V, pQ61H (human) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:24224046 PMID:25125259 PMID:8453633
RGD:10412316
NCBI chr11:532,242...535,576
Ensembl chr11:532,242...537,321
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HSPA8
heat shock protein family A (Hsp70) member 8
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:15274141
NCBI chr11:123,057,489...123,062,462
Ensembl chr11:123,057,489...123,063,230
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HSPB1
heat shock protein family B (small) member 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:15274141
NCBI chr 7:76,302,673...76,304,292
Ensembl chr 7:76,302,673...76,305,813
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HTR4
5-hydroxytryptamine receptor 4
IAGP
ClinVar Annotator: match by term: Squamous cell carcinoma
ClinVar
PMID:27993330
NCBI chr 5:148,451,032...148,654,527
Ensembl chr 5:148,446,042...148,677,235
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IFNA2
interferon alpha 2
EXP
CTD Direct Evidence: therapeutic
CTD
PMID:17172406
NCBI chr 9:21,384,255...21,385,398
Ensembl chr 9:21,384,255...21,385,398
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IL2
interleukin 2
treatment
IDA
RGD
PMID:11023201
RGD:8663457
NCBI chr 4:122,451,470...122,456,725
Ensembl chr 4:122,451,470...122,456,725
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IL6
interleukin 6
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:26372664
NCBI chr 7:22,727,200...22,731,998
Ensembl chr 7:22,725,884...22,732,002
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ING1
inhibitor of growth family member 1
IAGP
squamous cell carcinoma of the head and neck, OMIM:275355 DNA:point_mutation:CDS:G->C in exon 2, amino acid cys215ser
RGD
PMID:10866301
RGD:1600155
NCBI chr13:110,712,623...110,723,339
Ensembl chr13:110,712,736...110,723,339
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INPP5A
inositol polyphosphate-5-phosphatase A
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:25759212
NCBI chr10:132,537,787...132,783,480
Ensembl chr10:132,537,787...132,783,480
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IRAK1
interleukin 1 receptor associated kinase 1
disease_progression
IMP
RGD
PMID:24302991
RGD:7495785
NCBI chr X:154,010,507...154,019,902
Ensembl chr X:154,010,506...154,019,902
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ITGA5
integrin subunit alpha 5
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:21401805
NCBI chr12:54,395,261...54,419,266
Ensembl chr12:54,395,261...54,419,266
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ITGB1
integrin subunit beta 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:21401805
NCBI chr10:32,900,318...32,958,230
Ensembl chr10:32,887,273...33,005,792
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IVL
involucrin
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:18572023
NCBI chr 1:152,908,546...152,911,886
Ensembl chr 1:152,908,546...152,911,886
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KDR
kinase insert domain receptor
ISO
RGD
PMID:16251423
RGD:8551848
NCBI chr 4:55,078,481...55,125,595
Ensembl chr 4:55,078,481...55,125,595
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KITLG
KIT ligand
ISO
Squamous cell carcinoma of the digit
OMIA
PMID:1399782 PMID:2800263 PMID:6354679 PMID:6731733 PMID:7657570 PMID:16231717 PMID:17609360 PMID:23555311 PMID:24936030 PMID:26699508 PMID:36851392 PMID:36851451 PMID:38785565 More...
NCBI chr12:88,492,793...88,580,471
Ensembl chr12:88,492,793...88,580,851
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KLF5
KLF transcription factor 5
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:27158780
NCBI chr13:73,054,976...73,077,538
Ensembl chr13:73,054,976...73,077,541
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KMT2C
lysine methyltransferase 2C
severity
IAGP
DNA:mutations:multiple (human)
RGD
PMID:25303977
RGD:9588232
NCBI chr 7:152,134,925...152,436,003
Ensembl chr 7:152,134,922...152,436,644
G
KNSTRN
kinetochore localized astrin (SPAG5) binding protein
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:25194279
NCBI chr15:40,382,721...40,394,288
Ensembl chr15:40,382,721...40,394,288
G
KRAS
KRAS proto-oncogene, GTPase
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:19435901 PMID:25125259
NCBI chr12:25,205,246...25,250,929
Ensembl chr12:25,205,246...25,250,936
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KRT1
keratin 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:18572023
NCBI chr12:52,674,736...52,680,407
Ensembl chr12:52,674,736...52,680,407
G
KRT10
keratin 10
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:18572023
NCBI chr17:40,818,117...40,822,614
Ensembl chr17:40,818,117...40,822,614
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KRT14
keratin 14
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:16543248
NCBI chr17:41,582,279...41,586,895
Ensembl chr17:41,582,279...41,586,895
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KRT6B
keratin 6B
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:15274141
NCBI chr12:52,446,651...52,452,146
Ensembl chr12:52,446,651...52,452,146
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LGALS7
galectin 7
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:15274141
NCBI chr19:38,770,968...38,773,517
Ensembl chr19:38,789,200...38,791,754 Ensembl chr19:38,789,200...38,791,754
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LGR6
leucine rich repeat containing G protein-coupled receptor 6
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:28945253
NCBI chr 1:202,193,799...202,319,761
Ensembl chr 1:202,193,799...202,319,781
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LOC110006318
serine/threonine kinase 11 intron 3 Alu-mediated recombination region
IAGP
ClinVar Annotator: match by term: Squamous cell carcinoma
ClinVar
PMID:27993330
NCBI chr19:1,219,531...1,219,844
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LOC126807524
BRD4-independent group 4 enhancer GRCh37_chr5:137799954-137801153
IAGP
ClinVar Annotator: match by term: Squamous cell carcinoma
ClinVar
PMID:27993330
NCBI chr 5:138,464,083...138,466,217
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LOC130009460
ATAC-STARR-seq lymphoblastoid silent region 5213
IAGP
ClinVar Annotator: match by term: Squamous cell carcinoma
ClinVar
PMID:27993330
NCBI chr13:28,494,744...28,494,863
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LORICRIN
loricrin cornified envelope precursor protein
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:18572023
NCBI chr 1:153,259,687...153,262,124
Ensembl chr 1:153,259,687...153,262,124
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LTA4H
leukotriene A4 hydrolase
ISO
protein:increased expression:tongue, carcinoma, stroma (rat)
RGD
PMID:17985342
RGD:2316582
NCBI chr12:96,000,753...96,043,520
Ensembl chr12:96,000,753...96,043,520
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LZTS1
leucine zipper tumor suppressor 1
IAGP
esophageal squamous cell carcinoma, OMIM:133239
RGD
PMID:10097140
RGD:1600104
NCBI chr 8:20,246,165...20,303,963
Ensembl chr 8:20,246,165...20,303,963
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MAL
mal, T cell differentiation protein
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:19445022
NCBI chr 2:95,025,708...95,053,992
Ensembl chr 2:95,025,677...95,053,992
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MANF
mesencephalic astrocyte derived neurotrophic factor
susceptibility
IAGP
RGD
PMID:8971156
RGD:1599219
NCBI chr 3:51,385,291...51,389,397
Ensembl chr 3:51,385,291...51,389,397
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MAPK1
mitogen-activated protein kinase 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:21401805
NCBI chr22:21,759,657...21,867,680
Ensembl chr22:21,759,657...21,867,680
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MAPK3
mitogen-activated protein kinase 3
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:21401805
NCBI chr16:30,114,105...30,123,220
Ensembl chr16:30,114,105...30,123,506
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MET
MET proto-oncogene, receptor tyrosine kinase
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:22948846
NCBI chr 7:116,672,196...116,798,377
Ensembl chr 7:116,672,196...116,798,377
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MIR205
microRNA 205
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:21563230
NCBI chr 1:209,432,133...209,432,242
Ensembl chr 1:209,432,133...209,432,242
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MLH1
mutL homolog 1
IAGP
ClinVar Annotator: match by term: Squamous cell carcinoma
ClinVar
PMID:27993330
NCBI chr 3:36,993,466...37,050,846
Ensembl chr 3:36,993,226...37,050,896
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MMP2
matrix metallopeptidase 2
IEP
protein:increased expression:nasal mucosa
RGD
PMID:21624249
RGD:8657057
NCBI chr16:55,478,830...55,506,691
Ensembl chr16:55,389,700...55,506,691
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MMP9
matrix metallopeptidase 9
IEP EXP ISO
protein:increased expression:middle ear CTD Direct Evidence: marker/mechanism protein:increased expression:nasal mucosa mRNA:increased expression:tongue
CTD RGD
PMID:18572023 PMID:22178867 PMID:21624249 PMID:18254958 PMID:11081634
RGD:8547836 , RGD:8657057 , RGD:8547895 , RGD:8547854
NCBI chr20:46,008,908...46,016,561
Ensembl chr20:46,008,908...46,016,561
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MRPL13
mitochondrial ribosomal protein L13
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:15274141
NCBI chr 8:120,395,437...120,445,150
Ensembl chr 8:120,380,761...120,445,402
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MS4A1
membrane spanning 4-domains A1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:22514692
NCBI chr11:60,455,847...60,470,752
Ensembl chr11:60,455,846...60,470,752
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MT1A
metallothionein 1A
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:17418620
NCBI chr16:56,638,666...56,640,087
Ensembl chr16:56,638,666...56,640,087
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MT1X
metallothionein 1X
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16543248
NCBI chr16:56,682,470...56,684,196
Ensembl chr16:56,682,470...56,684,196
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MTHFR
methylenetetrahydrofolate reductase
susceptibility
IAGP
DNA:transition:cds:g.677C>T (human)
RGD
PMID:17627246
RGD:6893580
NCBI chr 1:11,785,723...11,805,964
Ensembl chr 1:11,785,723...11,806,455
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MUC5AC
mucin 5AC, oligomeric mucus/gel-forming
IAGP
ClinVar Annotator: match by term: Squamous cell carcinoma
ClinVar
PMID:27993330
NCBI chr11:1,157,953...1,201,138
Ensembl chr11:1,157,953...1,201,138
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MYC
MYC proto-oncogene, bHLH transcription factor
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:26432044
NCBI chr 8:127,735,434...127,742,951
Ensembl chr 8:127,735,434...127,742,951
G
NCOA3
nuclear receptor coactivator 3
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:20852035
NCBI chr20:47,501,887...47,656,872
Ensembl chr20:47,501,887...47,656,877
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NFE2L2
NFE2 like bZIP transcription factor 2
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:18572023
NCBI chr 2:177,230,303...177,264,727
Ensembl chr 2:177,218,667...177,392,756
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NKX2-1
NK2 homeobox 1
IAGP
ClinVar Annotator: match by term: Squamous cell carcinoma
ClinVar
PMID:27993330
NCBI chr14:36,516,397...36,520,232
Ensembl chr14:36,516,392...36,521,149
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NLRP3
NLR family pyrin domain containing 3
IAGP
ClinVar Annotator: match by term: Squamous cell carcinoma
ClinVar
PMID:27993330
NCBI chr 1:247,416,077...247,448,817
Ensembl chr 1:247,332,331...247,449,108
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NME1
NME/NM23 nucleoside diphosphate kinase 1
severity
IEP
protein:decreased expression:tumor (human)
RGD
PMID:8978595
RGD:5133245
NCBI chr17:51,153,559...51,162,168
Ensembl chr17:51,153,559...51,162,428
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NOTCH1
notch receptor 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:27923803
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
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:27923803
NCBI chr 1:119,911,553...120,069,662
Ensembl chr 1:119,911,553...120,100,779
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NOTCH3
notch receptor 3
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:27923803
NCBI chr19:15,159,038...15,200,995
Ensembl chr19:15,159,038...15,200,995
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NOTCH4
notch receptor 4
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:27923803
NCBI chr 6:32,194,843...32,224,067
Ensembl chr 6:32,194,843...32,224,067
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OCA2
OCA2 melanosomal transmembrane protein
susceptibility
IAGP
DNA:missense mutation:cds:p.A481T (rs74653330) (human)
RGD
PMID:24617981
RGD:9491831
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
ISO
RGD
PMID:16024598
RGD:8657138
NCBI chr 3:9,749,952...9,783,108
Ensembl chr 3:9,749,944...9,788,219
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PGAM1
phosphoglycerate mutase 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:15274141
NCBI chr10:97,426,191...97,433,444
Ensembl chr10:97,426,191...97,433,444
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PIK3CA
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:24224046
NCBI chr 3:179,148,126...179,240,093
Ensembl chr 3:179,148,114...179,240,093
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PLAU
plasminogen activator, urokinase
severity
IEP
mRNA:increased expression:oral cavity (human)
RGD
PMID:12866027
RGD:7241134
NCBI chr10:73,909,164...73,917,494
Ensembl chr10:73,909,177...73,917,496
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PPIA
peptidylprolyl isomerase A
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:15274141
NCBI chr 7:44,796,681...44,803,117
Ensembl chr 7:44,796,680...44,824,564
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PRKDC
protein kinase, DNA-activated, catalytic subunit
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:25125259
NCBI chr 8:47,773,111...47,960,136
Ensembl chr 8:47,773,111...47,960,178
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PRTFDC1
phosphoribosyl transferase domain containing 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:17599052
NCBI chr10:24,848,614...24,952,606
Ensembl chr10:24,848,614...24,952,606
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PTEN
phosphatase and tensin homolog
IAGP
ClinVar Annotator: match by term: Squamous cell carcinoma
ClinVar
PMID:27993330
NCBI chr10:87,863,625...87,971,930
Ensembl chr10:87,862,638...87,971,930
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PTGER1
prostaglandin E receptor 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:21739481
NCBI chr19:14,472,466...14,475,354
Ensembl chr19:14,472,466...14,475,354
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PTGS2
prostaglandin-endoperoxide synthase 2
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:16543248 PMID:18202791
NCBI chr 1:186,671,791...186,680,423
Ensembl chr 1:186,671,791...186,680,922
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PTK2
protein tyrosine kinase 2
EXP
CTD Direct Evidence: marker/mechanism|therapeutic
CTD
PMID:21401805 PMID:25199511
NCBI chr 8:140,657,900...141,002,079
Ensembl chr 8:140,657,900...141,002,216
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PTPN11
protein tyrosine phosphatase non-receptor type 11
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:26432044
NCBI chr12:112,418,947...112,509,918
Ensembl chr12:112,418,351...112,509,918
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PYCARD
PYD and CARD domain containing
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:16778195
NCBI chr16:31,201,486...31,202,760
Ensembl chr16:31,201,486...31,203,450
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RACK1
receptor for activated C kinase 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:15274141
NCBI chr 5:181,236,897...181,243,906
Ensembl chr 5:181,236,897...181,248,096
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RAD52
RAD52 homolog, DNA repair protein
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:26013599
NCBI chr12:911,736...991,122
Ensembl chr12:911,736...990,053
G
RARB
retinoic acid receptor beta
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:17549354
NCBI chr 3:24,829,321...25,597,932
Ensembl chr 3:24,687,887...25,597,932
G
RASA1
RAS p21 protein activator 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:27158780
NCBI chr 5:87,267,883...87,391,916
Ensembl chr 5:87,267,883...87,391,931
G
RB1
RB transcriptional corepressor 1
IAGP
ClinVar Annotator: match by term: Squamous cell carcinoma
ClinVar
PMID:27993330
NCBI chr13:48,303,751...48,481,890
Ensembl chr13:48,303,744...48,599,436
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RIN3
Ras and Rab interactor 3
IAGP
ClinVar Annotator: match by term: Squamous cell carcinoma
ClinVar
PMID:27993330
NCBI chr14:92,513,781...92,688,994
Ensembl chr14:92,513,781...92,688,994
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RIPK1
receptor interacting serine/threonine kinase 1
IEP
RGD
PMID:19778795
RGD:7777170
NCBI chr 6:3,063,967...3,115,187
Ensembl chr 6:3,063,824...3,115,187
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RNF168
ring finger protein 168
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:34873829
NCBI chr 3:196,468,783...196,503,768
Ensembl chr 3:196,468,783...196,503,768
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RNF6
ring finger protein 6
IAGP
RGD
PMID:12154016
RGD:1599613
NCBI chr13:26,132,115...26,223,085
Ensembl chr13:26,132,115...26,222,314
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ROS1
ROS proto-oncogene 1, receptor tyrosine kinase
IAGP
ClinVar Annotator: match by term: Squamous cell carcinoma
ClinVar
PMID:27993330
NCBI chr 6:117,287,353...117,425,942
Ensembl chr 6:117,287,353...117,425,942
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RPE65
retinoid isomerohydrolase RPE65
IEP
mRNA:decreased 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
G
SEM1
SEM1 26S proteasome subunit
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:18922899
NCBI chr 7:96,481,626...96,709,846
Ensembl chr 7:96,481,626...96,709,880
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SERPINA1
serpin family A member 1
IAGP
ClinVar Annotator: match by term: Squamous cell carcinoma
ClinVar
PMID:27296815 PMID:27993330 PMID:36367950
NCBI chr14:94,376,747...94,390,635
Ensembl chr14:94,376,747...94,390,693
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SERPINB3
serpin family B member 3
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:15274141
NCBI chr18:63,655,197...63,661,893
Ensembl chr18:63,655,197...63,661,893
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SFN
stratifin
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:15274141
NCBI chr 1:26,863,149...26,864,456
Ensembl chr 1:26,863,149...26,864,456
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SFTA3
surfactant associated 3
IAGP
ClinVar Annotator: match by term: Squamous cell carcinoma
ClinVar
PMID:27993330
NCBI chr14:36,473,288...36,519,556
Ensembl chr14:36,473,207...36,521,149 Ensembl chr14:36,473,207...36,521,149
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SIRT3
sirtuin 3
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:21472714
NCBI chr11:215,030...236,931
Ensembl chr11:215,030...236,931
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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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SMURF2
SMAD specific E3 ubiquitin protein ligase 2
TAS
esophageal
RGD
PMID:17726579
RGD:2302550
NCBI chr17:64,542,282...64,662,307
Ensembl chr17:64,542,282...64,662,307
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SOD2
superoxide dismutase 2
EXP
CTD Direct Evidence: marker/mechanism|therapeutic
CTD
PMID:12543247 PMID:15274141
NCBI chr 6:159,669,069...159,762,281
Ensembl chr 6:159,669,069...159,762,529
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SOX2
SRY-box transcription factor 2
IEP EXP
protein:increased expression:mammalian vulva, epithelium CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:19801978 PMID:23518916
RGD:8661666
NCBI chr 3:181,711,925...181,714,436
Ensembl chr 3:181,711,925...181,714,436
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SPRR1A
small proline rich protein 1A
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:8617999
NCBI chr 1:152,984,081...152,985,814
Ensembl chr 1:152,984,081...152,985,814
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STAT3
signal transducer and activator of transcription 3
disease_progression
IDA EXP
protein:increased phosphorylation:skin CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:17566705 PMID:26432044 PMID:16043897
RGD:8694300
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
EXP IAGP
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Squamous cell carcinoma
CTD ClinVar
PMID:17676035 PMID:27993330
NCBI chr19:1,205,778...1,228,431
Ensembl chr19:1,177,558...1,228,431
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TERC
telomerase RNA component
EXP
CTD Direct Evidence: therapeutic
CTD
PMID:16051514
NCBI chr 3:169,764,610...169,765,060
Ensembl chr 3:169,764,610...169,765,047 Ensembl chr 3:169,764,610...169,765,047
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TERF1
telomeric repeat binding factor 1
ISO
RGD
PMID:19679647
RGD:2317221
NCBI chr 8:73,008,864...73,048,123
Ensembl chr 8:73,008,856...73,048,123
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TET2
tet methylcytosine dioxygenase 2
IAGP
ClinVar Annotator: match by term: Squamous cell carcinoma
ClinVar
PMID:27993330
NCBI chr 4:105,145,875...105,279,803
Ensembl chr 4:105,145,875...105,279,816
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TET2-AS1
TET2 antisense RNA 1
IAGP
ClinVar Annotator: match by term: Squamous cell carcinoma
ClinVar
PMID:27993330
NCBI chr 4:105,171,354...105,352,881
Ensembl chr 4:105,171,354...105,353,011
G
TGFB1
transforming growth factor beta 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:20852150
NCBI chr19:41,330,323...41,353,922
Ensembl chr19:41,301,587...41,353,922
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TIAM1
TIAM Rac1 associated GEF 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:27862620
NCBI chr21:31,118,418...31,559,087
Ensembl chr21:31,118,416...31,559,977
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TLR4
toll like receptor 4
IAGP
ClinVar Annotator: match by term: Squamous cell carcinoma
ClinVar
PMID:27993330
NCBI chr 9:117,704,403...117,724,735
Ensembl chr 9:117,704,175...117,724,735
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TLR9
toll like receptor 9
IEP
invasive squamous cell carcinoma of the cervix; mRNA:increased expression:tumor:significantly increased vs normal cervical tissue (p=0.012)
RGD
PMID:17440926
RGD:2301099
NCBI chr 3:52,221,080...52,225,645
Ensembl chr 3:52,221,080...52,225,645
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TNFRSF1A
TNF receptor superfamily member 1A
ISO
RGD
PMID:15044707
RGD:8661739
NCBI chr12:6,328,771...6,342,076
Ensembl chr12:6,328,757...6,342,114
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TP53
tumor protein p53
ISO IAGP EXP IEP
ClinVar Annotator: match by term: Squamous cell carcinoma ClinVar Annotator: match by term: Epidermoid carcinoma CTD Direct Evidence: marker/mechanism protein:increased expression:oral mucosa: DNA:polymorphism,mutations:cds:
ClinVar CTD RGD
PMID:1672732 PMID:9472631 PMID:9572492 PMID:10557074 PMID:10713666 PMID:10754498 PMID:11590071 PMID:11793474 PMID:12779080 PMID:12826609 PMID:15037740 PMID:15077194 PMID:15161705 PMID:15308588 PMID:15564800 PMID:16543248 PMID:16778209 PMID:16861262 PMID:17979968 PMID:18555592 PMID:19435901 PMID:21561095 PMID:24224046 PMID:25125259 PMID:25741868 PMID:26580448 PMID:26619011 PMID:27923803 PMID:27993330 PMID:28492532 PMID:29070607 PMID:29785153 PMID:29979965 PMID:30224644 PMID:30720243 PMID:30840781 PMID:31159747 PMID:32899294 PMID:18059331 PMID:23776093 PMID:22545084 PMID:9499192 More...
RGD:8547790 , RGD:8547855 , RGD:8547832 , RGD:8547794
NCBI chr17:7,668,421...7,687,490
Ensembl chr17:7,661,779...7,687,546
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TP63
tumor protein p63
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:21527555
NCBI chr 3:189,596,746...189,897,276
Ensembl chr 3:189,631,389...189,897,276
G
TPI1
triosephosphate isomerase 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:15274141
NCBI chr12:6,867,420...6,870,948
Ensembl chr12:6,867,119...6,870,948
G
TSC1
TSC complex subunit 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:18538015
NCBI chr 9:132,891,349...132,945,378
Ensembl chr 9:132,891,348...132,946,874
G
TSC2
TSC complex subunit 2
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:18538015
NCBI chr16:2,047,985...2,089,491
Ensembl chr16:2,047,967...2,089,491
G
TYMS
thymidylate synthetase
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:16280240
NCBI chr18:657,653...673,578
Ensembl chr18:657,653...673,578
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UBA1
ubiquitin like modifier activating enzyme 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:19014429
NCBI chr X:47,190,847...47,215,128
Ensembl chr X:47,190,861...47,215,128
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UBA7
ubiquitin like modifier activating enzyme 7
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:19014429
NCBI chr 3:49,805,209...49,813,953
Ensembl chr 3:49,805,209...49,813,953
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UMPS
uridine monophosphate synthetase
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:16757204
NCBI chr 3:124,730,452...124,749,273
Ensembl chr 3:124,730,433...124,749,273
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VDAC2
voltage dependent anion channel 2
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:15274141
NCBI chr10:75,210,170...75,231,448
Ensembl chr10:75,210,154...75,231,448
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VDR
vitamin D receptor
IAGP
DNA:SNPs, haplotype: :rs731236, rs7975232 (human) DNA:SNP: :rs1544410 (human)
RGD
PMID:22213323 PMID:16950800
RGD:8158063 , RGD:8158080
NCBI chr12:47,841,537...47,904,994
Ensembl chr12:47,841,537...47,943,048
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VEGFA
vascular endothelial growth factor A
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:15956251 PMID:26432044
NCBI chr 6:43,770,211...43,786,487
Ensembl chr 6:43,770,184...43,786,487
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WWOX
WW domain containing oxidoreductase
IAGP EXP
esophageal squamous cell carcinoma, OMIM:133239 CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:17575124 PMID:11956080
RGD:1599874
NCBI chr16:78,099,654...79,212,667
Ensembl chr16:78,099,400...79,212,667
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XPC
XPC complex subunit, DNA damage recognition and repair factor
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:27777383
NCBI chr 3:14,145,147...14,178,601
Ensembl chr 3:14,145,145...14,178,621
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XRCC5
X-ray repair cross complementing 5
IEP
protein:increased expression:epidermal cell, squamous 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
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XRCC6
X-ray repair cross complementing 6
IEP
protein:increased expression:epidermal cell, squamous 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
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ADA
adenosine deaminase
IEP
protein:increased activity:saliva:
RGD
PMID:20379753
RGD:152995262
NCBI chr20:44,619,522...44,651,699
Ensembl chr20:44,584,896...44,652,252
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ADIPOQ
adiponectin, C1Q and collagen domain containing
disease_progression
IEP
protein:decreased expression:serum
RGD
PMID:23181352
RGD:8694469
NCBI chr 3:186,842,710...186,858,463
Ensembl chr 3:186,842,704...186,858,463
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BCL2
BCL2 apoptosis regulator
IEP
protein:increased expression:tongue (human)
RGD
PMID:26581505
RGD:11535375
NCBI chr18:63,123,346...63,320,090
Ensembl chr18:63,123,346...63,320,128
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BIRC2
baculoviral IAP repeat containing 2
exacerbates
IEP
protein:increased expression:tongue (human)
RGD
PMID:18621506
RGD:153323319
NCBI chr11:102,347,214...102,378,670
Ensembl chr11:102,347,211...102,378,670
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BRINP3
BMP/retinoic acid inducible neural specific 3
IEP
mRNA:decreased expression:tongue:
RGD
PMID:19787213
RGD:14398487
NCBI chr 1:190,097,658...190,477,864
Ensembl chr 1:190,097,658...190,478,404
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CAV2
caveolin 2
IEP
protein:increased expression:mucosa of tongue
RGD
PMID:20558341
RGD:8661771
NCBI chr 7:116,499,738...116,508,541
Ensembl chr 7:116,287,380...116,508,541
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CCND1
cyclin D1
IEP
protein:increased expression:tongue (human)
RGD
PMID:26581505
RGD:11535375
NCBI chr11:69,641,156...69,654,474
Ensembl chr11:69,641,156...69,654,474
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CDKN1A
cyclin dependent kinase inhibitor 1A
disease_progression
IEP
RGD
PMID:12162767
RGD:8662376
NCBI chr 6:36,676,463...36,687,332
Ensembl chr 6:36,676,460...36,687,397
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CXCL8
C-X-C motif chemokine ligand 8
HEP
mRNA:increased expression:head, neck (human)
RGD
PMID:31452775
RGD:150520018
NCBI chr 4:73,740,569...73,743,716
Ensembl chr 4:73,740,519...73,743,716
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EGFR
epidermal growth factor receptor
treatment
ISO
RGD
PMID:19380367
RGD:8551769
NCBI chr 7:55,019,017...55,211,628
Ensembl chr 7:55,019,017...55,211,628
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ERBB3
erb-b2 receptor tyrosine kinase 3
disease_progression
IEP
RGD
PMID:19691460
RGD:126781771
NCBI chr12:56,080,108...56,103,505
Ensembl chr12:56,076,799...56,103,505
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ERBB4
erb-b2 receptor tyrosine kinase 4
severity
IEP
RGD
PMID:19691460
RGD:126781771
NCBI chr 2:211,375,717...212,538,802
Ensembl chr 2:211,375,717...212,538,841
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FANCB
FA complementation group B
IEP
RGD
PMID:17409780
RGD:11049143
NCBI chr X:14,689,524...14,873,069
Ensembl chr X:14,690,388...14,873,255
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FANCC
FA complementation group C
IEP
RGD
PMID:17409780
RGD:11049143
NCBI chr 9:95,099,054...95,317,709
Ensembl chr 9:95,099,054...95,426,796
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FANCF
FA complementation group F
IEP
mRNA:decreased expression:tongue:
RGD
PMID:17409780
RGD:11049143
NCBI chr11:22,622,533...22,625,823
Ensembl chr11:22,622,533...22,625,823
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FANCG
FA complementation group G
IEP
RGD
PMID:17409780
RGD:11049143
NCBI chr 9:35,073,839...35,079,942
Ensembl chr 9:35,073,835...35,080,004
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FANCI
FA complementation group I
IEP
RGD
PMID:17409780
RGD:11049143
NCBI chr15:89,243,979...89,317,259
Ensembl chr15:89,243,945...89,317,261
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FANCL
FA complementation group L
IEP
RGD
PMID:17409780
RGD:11049143
NCBI chr 2:58,159,243...58,241,380
Ensembl chr 2:58,159,243...58,241,410
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FANCM
FA complementation group M
IEP
RGD
PMID:17409780
RGD:11049143
NCBI chr14:45,135,930...45,200,890
Ensembl chr14:45,135,930...45,200,890
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FOS
Fos proto-oncogene, AP-1 transcription factor subunit
IEP
mRNA,protein:increased expression:tongue (human)
RGD
PMID:26581505
RGD:11535375
NCBI chr14:75,278,828...75,282,230
Ensembl chr14:75,278,826...75,283,190
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FOSB
FosB proto-oncogene, AP-1 transcription factor subunit
IEP
protein:increased expression:tongue (human)
RGD
PMID:26581505
RGD:11535375
NCBI chr19:45,467,996...45,475,179
Ensembl chr19:45,467,995...45,475,179
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FOSL1
FOS like 1, AP-1 transcription factor subunit
IEP
protein:decreased expression:tongue (human)
RGD
PMID:26581505
RGD:11535375
NCBI chr11:65,892,049...65,900,545
Ensembl chr11:65,892,049...65,900,573
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FOSL2
FOS like 2, AP-1 transcription factor subunit
IEP
mRNA,protein:increased expression:tongue (human)
RGD
PMID:26581505
RGD:11535375
NCBI chr 2:28,392,858...28,417,317
Ensembl chr 2:28,392,448...28,417,317
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FUBP1
far upstream element binding protein 1
exacerbates
IEP
mRNA, protein:increased expression:tongue (human)
RGD
PMID:32339054
RGD:151361191
NCBI chr 1:77,944,055...77,979,501
Ensembl chr 1:77,944,055...77,979,110
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GJA1
gap junction protein alpha 1
ISO
protein:decreased expression:epithelium
RGD
PMID:23568744
RGD:8662380
NCBI chr 6:121,435,646...121,449,727
Ensembl chr 6:121,435,595...121,449,727
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HGF
hepatocyte growth factor
IEP
protein:increased expression:tongue:
RGD
PMID:20848408
RGD:8548612
NCBI chr 7:81,699,010...81,770,047
Ensembl chr 7:81,699,010...81,770,438
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IFNG
interferon gamma
disease_progression
ISO
protein:decreased expression:serum:
RGD
PMID:17338814
RGD:8662972
NCBI chr12:68,154,768...68,159,740
Ensembl chr12:68,154,768...68,159,740
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IL10
interleukin 10
disease_progression
ISO
protein:increased expression:serum:
RGD
PMID:17338814
RGD:8662972
NCBI chr 1:206,767,602...206,772,494
Ensembl chr 1:206,767,602...206,774,541
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IL1RL1
interleukin 1 receptor like 1
disease_progression
IEP
RGD
PMID:25193287
RGD:39938972
NCBI chr 2:102,311,563...102,352,356
Ensembl chr 2:102,311,502...102,352,037
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IL2
interleukin 2
ISO
protein:decreased expression:serum:
RGD
PMID:17338814
RGD:8662972
NCBI chr 4:122,451,470...122,456,725
Ensembl chr 4:122,451,470...122,456,725
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IL33
interleukin 33
disease_progression
IEP
RGD
PMID:25193287
RGD:39938972
NCBI chr 9:6,215,149...6,257,983
Ensembl chr 9:6,215,786...6,257,983
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JAK3
Janus kinase 3
disease_progression
ISO
RGD
PMID:26860129
RGD:11531126
NCBI chr19:17,824,782...17,847,982
Ensembl chr19:17,824,780...17,848,071
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JUN
Jun proto-oncogene, AP-1 transcription factor subunit
IEP
mRNA,protein:increased expression:tongue (human)
RGD
PMID:26581505
RGD:11535375
NCBI chr 1:58,780,791...58,784,047
Ensembl chr 1:58,776,845...58,784,048
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JUNB
JunB proto-oncogene, AP-1 transcription factor subunit
IEP
protein:increased expression:tongue (human)
RGD
PMID:26581505
RGD:11535375
NCBI chr19:12,791,486...12,793,315
Ensembl chr19:12,791,486...12,793,315
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JUND
JunD proto-oncogene, AP-1 transcription factor subunit
IEP
protein:increased expression:tongue (human)
RGD
PMID:26581505
RGD:11535375
NCBI chr19:18,279,694...18,281,622
Ensembl chr19:18,279,694...18,281,622
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KDR
kinase insert domain receptor
treatment
ISO
RGD
PMID:19380367
RGD:8551769
NCBI chr 4:55,078,481...55,125,595
Ensembl chr 4:55,078,481...55,125,595
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MAP2K4
mitogen-activated protein kinase kinase 4
IEP
mRNA:increased expression:tongue squamous epithelium (human)
RGD
PMID:28319306
RGD:150429750
NCBI chr17:12,020,877...12,143,828
Ensembl chr17:12,020,829...12,143,830
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MET
MET proto-oncogene, receptor tyrosine kinase
IEP
protein:increased expression:tongue:
RGD
PMID:20848408
RGD:8548612
NCBI chr 7:116,672,196...116,798,377
Ensembl chr 7:116,672,196...116,798,377
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MMP9
matrix metallopeptidase 9
IEP
protein:increased expression:tongue (human)
RGD
PMID:26581505
RGD:11535375
NCBI chr20:46,008,908...46,016,561
Ensembl chr20:46,008,908...46,016,561
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MTUS1
microtubule associated scaffold protein 1
disease_progression
IEP
RGD
PMID:22153618
RGD:25330347
NCBI chr 8:17,643,802...17,801,521
Ensembl chr 8:17,643,795...17,801,094
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SLC1A5
solute carrier family 1 member 5
disease_progression
IEP
RGD
PMID:24762957
RGD:151361157
NCBI chr19:46,774,883...46,788,594
Ensembl chr19:46,774,883...46,788,594
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SLC3A2
solute carrier family 3 member 2
disease_progression
IEP
RGD
PMID:24762957
RGD:151361157
NCBI chr11:62,856,109...62,888,860
Ensembl chr11:62,856,004...62,888,880
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SLC7A11
solute carrier family 7 member 11
severity
IEP
RGD
PMID:24762957
RGD:151361157
NCBI chr 4:138,164,097...138,312,671
Ensembl chr 4:138,164,097...138,242,349
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SLC7A5
solute carrier family 7 member 5
disease_progression
IEP
RGD
PMID:24762957
RGD:151361157
NCBI chr16:87,830,023...87,869,507
Ensembl chr16:87,830,016...87,869,507
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SOX2
SRY-box transcription factor 2
disease_progression
IEP
RGD
PMID:21689966
RGD:8661665
NCBI chr 3:181,711,925...181,714,436
Ensembl chr 3:181,711,925...181,714,436
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TP53
tumor protein p53
ISO
protein:increased expression:tongue:
RGD
PMID:20385474
RGD:8547851
NCBI chr17:7,668,421...7,687,490
Ensembl chr17:7,661,779...7,687,546
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FGFR3
fibroblast growth factor receptor 3
severity
IEP
associated with human papillomavirus;protein:decreased expression:tumor cells (human)
RGD
PMID:30061236
RGD:36947883
NCBI chr 4:1,793,293...1,808,867
Ensembl chr 4:1,793,293...1,808,872
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CDC25A
cell division cycle 25A
IEP
protein:increased expression:vulva
RGD
PMID:20500813
RGD:2729590
NCBI chr 3:48,157,146...48,188,417
Ensembl chr 3:48,157,146...48,188,417
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CDC25B
cell division cycle 25B
disease_progression
IEP
protein:increased expression:vulva
RGD
PMID:20500813
RGD:2729590
NCBI chr20:3,786,951...3,806,115
Ensembl chr20:3,786,772...3,806,121
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CDC25C
cell division cycle 25C
disease_progression
IEP
protein:increased expression:vulva
RGD
PMID:20500813
RGD:2729590
NCBI chr 5:138,285,265...138,338,355
Ensembl chr 5:138,285,269...138,338,355
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SFN
stratifin
IDA
DNA, mRNA:hypermethylation, decreased expression:vulva
RGD
PMID:11896620
RGD:2299936
NCBI chr 1:26,863,149...26,864,456
Ensembl chr 1:26,863,149...26,864,456
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CXCR4
C-X-C motif chemokine receptor 4
IAGP ISS EXP
DNA:frame shift, nonsense mutations:cds:1016_1017delCT,p.R334X,E343X(human) ClinVar Annotator: match by term: WHIM syndrome 1 ClinVar Annotator: match by term: CXCR4-related condition | ClinVar Annotator: match by term: WHIM syndrome 1 OMIM:193670 CTD Direct Evidence: marker/mechanism
ClinVar MouseDO CTD OMIM RGD
PMID:12692554 PMID:15026312 PMID:15536153 PMID:16275383 PMID:16899028 PMID:17803866 PMID:18436740 PMID:19043667 PMID:19476565 PMID:19956569 PMID:20472031 PMID:20736454 PMID:21070597 PMID:22748845 PMID:23009155 PMID:23734232 PMID:23794067 PMID:25571909 PMID:25662009 PMID:25741868 PMID:28353164 PMID:28492532 PMID:29659363 PMID:30819232 PMID:31313072 PMID:31493092 PMID:32784523 PMID:35947323 PMID:36089616 PMID:12692554 More...
RGD:734860
NCBI chr 2:136,114,349...136,118,149
Ensembl chr 2:136,114,349...136,119,177
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