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 carcinoma
Accession: DOID:1749
browse the term
Definition: A carcinoma that derives_from squamous epithelial cells. (DO)
Synonyms: exact_synonym: Epidermoid Carcinoma; Planocellular Carcinoma; Planocellular Carcinomas; Squamous Carcinoma; Squamous Carcinomas; epidermoid carcinomas; malignant squamous cell tumor; squamous cell cancer; squamous cell carcinomas; squamous cell epithelioma
narrow_synonym: SQUAMOUS CELL CARCINOMA, BURN SCAR-RELATED, SOMATIC; Squamous cell carcinoma of the digit; Tonsillar Squamous Cell Carcinoma
primary_id: MESH:D002294
alt_id: OMIA:001787
xref: EFO:0000707 ; EFO:1000597 ; GARD:1091 ; NCI:C21609 ; NCI:C2929 ; NCI:C60511
For additional species annotation, visit the
Alliance of Genome Resources .
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Adam19
ADAM metallopeptidase domain 19
ISO
ClinVar Annotator: match by term: Squamous cell carcinoma
ClinVar
PMID:27993330
NCBI chr10:30,491,362...30,583,115
Ensembl chr10:30,491,405...30,583,105
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Adamtsl3
ADAMTS-like 3
ISO
ClinVar Annotator: match by term: Squamous cell carcinoma
ClinVar
PMID:27993330
NCBI chr 1:136,288,793...136,596,986
Ensembl chr 1:136,288,793...136,596,986
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Afap1l2
actin filament associated protein 1-like 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29059373
NCBI chr 1:255,964,238...256,060,828
Ensembl chr 1:255,964,238...256,060,820
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Akt1
AKT serine/threonine kinase 1
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Squamous cell carcinoma
CTD ClinVar
PMID:21351258 PMID:27993330
NCBI chr 6:131,713,716...131,735,319
Ensembl chr 6:131,713,720...131,733,921
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Anxa1
annexin A1
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:15274141 PMID:8919037
RGD:7421562
NCBI chr 1:217,861,175...217,877,205
Ensembl chr 1:217,861,175...217,877,343
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Anxa2
annexin A2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15274141
NCBI chr 8:70,105,268...70,141,663
Ensembl chr 8:70,105,253...70,141,658
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Anxa5
annexin A5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15274141
NCBI chr 2:119,314,007...119,344,703
Ensembl chr 2:119,314,007...119,353,369
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Apc
APC regulator of WNT signaling pathway
ISO
ClinVar Annotator: match by term: Squamous cell carcinoma
ClinVar
PMID:27993330
NCBI chr18:25,828,558...25,925,511
Ensembl chr18:25,864,222...25,922,696
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Aqp3
aquaporin 3 (Gill blood group)
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21401805
NCBI chr 5:56,239,200...56,244,718
Ensembl chr 5:56,239,201...56,244,720
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Areg
amphiregulin
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:11237771
NCBI chr14:16,972,185...16,981,443
Ensembl chr14:16,972,187...16,981,535
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Atm
ATM serine/threonine kinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25125259
NCBI chr 8:53,828,741...53,932,773
Ensembl chr 8:53,831,093...53,932,437
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Bcl2
BCL2, apoptosis regulator
disease_progression
IEP
Protein:increased expression:tongue;associated with mouth neoplasms
RGD
PMID:16309543
RGD:1599477
NCBI chr13:22,689,783...22,853,920
Ensembl chr13:22,684,989...22,853,743 Ensembl chr13:22,684,989...22,853,743
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Birc5
baculoviral IAP repeat-containing 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26432044
NCBI chr10:103,072,530...103,081,382
Ensembl chr10:103,073,408...103,081,380
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Cav1
caveolin 1
ISO
RGD
PMID:23267770
RGD:8661786
NCBI chr 4:45,640,624...45,673,708
Ensembl chr 4:45,634,918...45,673,705
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Ccl2
C-C motif chemokine ligand 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25199511
NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226
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Ccnd1
cyclin D1
susceptibility
ISO
associated with Cervix Neoplasms;DNA:polymorphism: :870A>G CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:26432044 PMID:18548202
RGD:2296032
NCBI chr 1:200,089,002...200,098,524
Ensembl chr 1:200,089,002...200,098,602
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Cd163
CD163 molecule
ISO
ClinVar Annotator: match by term: Squamous cell carcinoma
ClinVar
PMID:27993330
NCBI chr 4:157,085,080...157,118,470
Ensembl chr 4:157,085,093...157,117,878
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Cdh1
cadherin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17520682
NCBI chr19:34,492,371...34,561,775
Ensembl chr19:34,492,371...34,561,775
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Cdkn1a
cyclin-dependent kinase inhibitor 1A
disease_progression
ISO
associated with Varicose Ulcer;protein:increased expression:skin:
RGD
PMID:9655223 PMID:11028856
RGD:8662356 , RGD:8662856
NCBI chr20:7,149,177...7,159,727
Ensembl chr20:7,149,217...7,159,585
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Cdkn2a
cyclin-dependent kinase inhibitor 2A
ISO
DNA:transitions: :multiple CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:25125259 PMID:15057871
RGD:8552295
NCBI chr 5:103,984,949...103,992,143
Ensembl chr 5:103,984,949...104,003,149
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Cdkn2b
cyclin-dependent kinase inhibitor 2B
ISO
protein:decreased expression:skin
RGD
PMID:18564286
RGD:8548686
NCBI chr 5:104,009,839...104,019,082
Ensembl chr 5:104,010,680...104,019,050
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Cebpa
CCAAT/enhancer binding protein alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17510391 PMID:21346772
NCBI chr 1:87,759,631...87,762,303
Ensembl chr 1:87,759,433...87,762,412
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Cfh
complement factor H
ISO
mRNA:increased expression:skin
RGD
PMID:23938460
RGD:8662319
NCBI chr13:51,512,376...51,613,829
Ensembl chr13:51,511,828...51,613,838
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Chrna3
cholinergic receptor nicotinic alpha 3 subunit
ISO
ClinVar Annotator: match by term: Squamous cell carcinoma
ClinVar
PMID:27993330
NCBI chr 8:55,401,668...55,415,165
Ensembl chr 8:55,401,702...55,415,165
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Chrna5
cholinergic receptor nicotinic alpha 5 subunit
ISO
ClinVar Annotator: match by term: Squamous cell carcinoma
ClinVar
PMID:27993330
NCBI chr 8:55,369,794...55,398,526
Ensembl chr 8:55,369,794...55,398,146
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Cldn1
claudin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:33665778
NCBI chr11:74,421,569...74,436,728
Ensembl chr11:74,421,569...74,436,724
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Clu
clusterin
severity
ISO
RGD
PMID:15126350
RGD:8936706
NCBI chr15:40,161,068...40,200,315
Ensembl chr15:40,174,617...40,200,315
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Crebbp
CREB binding protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27158780
NCBI chr10:11,335,551...11,461,888
Ensembl chr10:11,335,953...11,461,888
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Cryab
crystallin, alpha B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15274141
NCBI chr 8:51,093,441...51,099,161
Ensembl chr 8:51,093,441...51,099,157
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Csnk2a1
casein kinase 2 alpha 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18572023
NCBI chr 3:140,709,984...140,756,757
Ensembl chr 3:140,709,991...140,756,696
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Csnk2a2
casein kinase 2 alpha 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18572023
NCBI chr19:9,556,443...9,596,080
Ensembl chr19:9,556,260...9,596,080
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Csnk2b
casein kinase 2 beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18572023
NCBI chr20:3,700,363...3,705,331
Ensembl chr20:3,698,733...3,707,133
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Ctla4
cytotoxic T-lymphocyte-associated protein 4
susceptibility
ISO
DNA:SNP: :rs3087243(human)
RGD
PMID:19622768
RGD:7411686
NCBI chr 9:62,318,874...62,325,978
Ensembl chr 9:62,319,312...62,324,963
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Cttn
cortactin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27148699
NCBI chr 1:199,599,710...199,635,254
Ensembl chr 1:199,599,710...199,635,164
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Cyp1a2
cytochrome P450, family 1, subfamily a, polypeptide 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22072123
NCBI chr 8:58,075,367...58,082,255
Ensembl chr 8:58,075,367...58,082,312
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Cyp1b1
cytochrome P450, family 1, subfamily b, polypeptide 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22114726
NCBI chr 6:15,342,312...15,350,886
Ensembl chr 6:15,342,344...15,350,917
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Ddr2
discoidin domain receptor tyrosine kinase 2
ISO
ClinVar Annotator: match by term: Squamous cell carcinoma
ClinVar
PMID:18938156 PMID:22328973 PMID:23932362
NCBI chr13:82,193,623...82,318,229
Ensembl chr13:82,195,463...82,317,363
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Dspp
dentin sialophosphoprotein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21103065
NCBI chr14:5,565,562...5,571,669
Ensembl chr14:5,565,629...5,571,672
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Dusp1
dual specificity phosphatase 1
ISO
mRNA:increased expression:saliva
RGD
PMID:23892499
RGD:7771538
NCBI chr10:16,680,478...16,683,275
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Egfr
epidermal growth factor receptor
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Squamous cell carcinoma
CTD ClinVar
PMID:12942316 PMID:22042947 PMID:22948846 PMID:25157968 PMID:27993330
NCBI chr14:91,176,979...91,349,722
Ensembl chr14:91,177,067...91,344,382
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Egr1
early growth response 1
ISO
mRNA:decreased expression:tumor (human) ClinVar Annotator: match by term: Squamous cell carcinoma
ClinVar RGD
PMID:27993330 PMID:11948124
RGD:5131942
NCBI chr18:26,462,967...26,466,766
Ensembl chr18:26,462,981...26,466,766
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Eno1
enolase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15274141
NCBI chr 5:160,719,951...160,731,337
Ensembl chr 5:160,719,951...160,731,336
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Ep300
E1A binding protein p300
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27158780
NCBI chr 7:113,108,476...113,178,529
Ensembl chr 7:113,106,247...113,136,088 Ensembl chr 7:113,106,247...113,136,088
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Ercc2
ERCC excision repair 2, TFIIH core complex helicase subunit
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17687452
NCBI chr 1:79,033,342...79,047,102
Ensembl chr 1:79,033,326...79,047,102
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Ercc6
ERCC excision repair 6, chromatin remodeling factor
severity
ISO
associated with Cockayne Syndrome
RGD
PMID:9150142
RGD:10401099
NCBI chr16:7,764,983...7,835,587
Ensembl chr16:7,765,013...7,835,587
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Fam13a
family with sequence similarity 13, member A
ISO
ClinVar Annotator: match by term: Squamous cell carcinoma
ClinVar
PMID:27993330
NCBI chr 4:88,056,521...88,155,782
Ensembl chr 4:88,058,403...88,155,860
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Fas
Fas cell surface death receptor
ISO
ClinVar Annotator: match by term: SQUAMOUS CELL CARCINOMA, BURN SCAR-RELATED, SOMATIC
ClinVar
PMID:10620127
NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591
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Fgf7
fibroblast growth factor 7
ISO
cervical squamous cell carcinoma
RGD
PMID:17306351
RGD:2289084
NCBI chr 3:113,280,448...113,333,279
Ensembl chr 3:113,281,283...113,332,929
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Fgfr1
Fibroblast growth factor receptor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22286583 PMID:27794399
NCBI chr16:66,491,930...66,547,161
Ensembl chr16:66,494,042...66,547,350
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Fgfr2
fibroblast growth factor receptor 2
ISO
cervical squamous cell carcinoma
RGD
PMID:17306351
RGD:2289084
NCBI chr 1:184,745,418...184,850,655
Ensembl chr 1:184,745,420...184,850,626
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Fhit
fragile histidine triad diadenosine triphosphatase
ISO
cervical squamous cell carcinoma
RGD
PMID:17467893
RGD:2289871
NCBI chr15:13,935,029...15,442,620
Ensembl chr15:13,934,995...15,442,340
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Flt1
Fms related receptor tyrosine kinase 1
ISO
ClinVar Annotator: match by term: Squamous cell carcinoma
ClinVar
PMID:27993330
NCBI chr12:7,296,899...7,468,626
Ensembl chr12:7,297,292...7,468,626
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Foxa1
forkhead box A1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:32717239
NCBI chr 6:75,099,907...75,136,534
Ensembl chr 6:75,103,503...75,136,188
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Foxp2
forkhead box P2
ISO
ClinVar Annotator: match by term: Squamous cell carcinoma
ClinVar
PMID:27993330
NCBI chr 4:43,133,827...43,712,442
Ensembl chr 4:43,133,912...43,711,683
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Gapdh
glyceraldehyde-3-phosphate dehydrogenase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15274141
NCBI chr 4:157,962,312...157,967,158
Ensembl chr 4:157,962,343...157,966,235
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Gpx1
glutathione peroxidase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15557674
NCBI chr 8:109,026,905...109,028,031
Ensembl chr 8:109,026,905...109,028,024
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Grep1
glycine rich extracellular protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:34652879
NCBI chr10:12,727,164...12,748,629
Ensembl chr10:12,727,166...12,741,819
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Gstm1
glutathione S-transferase mu 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22072123
NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411
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Gstp1
glutathione S-transferase pi 1
ISO
RGD
PMID:11511301
RGD:6906882
NCBI chr 1:201,337,762...201,340,230
Ensembl chr 1:201,321,672...201,340,226
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Hcar2
hydroxycarboxylic acid receptor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21655214
NCBI chr12:32,726,252...32,728,238
Ensembl chr12:32,726,184...32,728,504
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Hdac1
histone deacetylase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21527555
NCBI chr 5:141,853,992...141,881,057
Ensembl chr 5:141,853,989...141,881,111
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Hdac2
histone deacetylase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21527555
NCBI chr20:40,548,244...40,571,609
Ensembl chr20:40,548,250...40,571,609
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Hgf
hepatocyte growth factor
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:21273587
NCBI chr 4:18,673,736...18,745,582
Ensembl chr 4:18,677,101...18,745,409
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Hras
HRas proto-oncogene, GTPase
ISO
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 chr 1:196,290,127...196,299,823
Ensembl chr 1:196,296,263...196,300,615
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Hspa8
heat shock protein family A (Hsp70) member 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15274141
NCBI chr 8:41,183,397...41,187,260
Ensembl chr 8:41,183,264...41,187,259
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Hspb1
heat shock protein family B (small) member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15274141
NCBI chr12:20,794,014...20,795,675
Ensembl chr12:20,794,028...20,795,743
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Htr4
5-hydroxytryptamine receptor 4
ISO
ClinVar Annotator: match by term: Squamous cell carcinoma
ClinVar
PMID:27993330
NCBI chr18:55,765,981...55,949,921
Ensembl chr18:55,766,725...55,949,321
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Il2
interleukin 2
treatment
ISO
RGD
PMID:11023201
RGD:8663457
NCBI chr 2:120,004,862...120,009,566
Ensembl chr 2:120,004,862...120,009,566
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Il6
interleukin 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26372664
NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
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Ing1
inhibitor of growth family, member 1
ISO
squamous cell carcinoma of the head and neck, OMIM:275355
RGD
PMID:10866301
RGD:1600155
NCBI chr16:77,937,276...77,945,320
Ensembl chr16:77,937,279...77,946,264
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Inpp5a
inositol polyphosphate-5-phosphatase A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25759212
NCBI chr 1:194,190,086...194,380,429
Ensembl chr 1:194,190,393...194,380,428
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Irak1
interleukin-1 receptor-associated kinase 1
disease_progression
ISO
RGD
PMID:24302991
RGD:7495785
NCBI chr X:151,768,621...151,778,521
Ensembl chr X:151,768,777...151,778,521
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Itga5
integrin subunit alpha 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21401805
NCBI chr 7:134,478,963...134,502,837
Ensembl chr 7:134,478,968...134,502,837
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Itgb1
integrin subunit beta 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21401805
NCBI chr19:56,705,123...56,753,199
Ensembl chr19:56,705,171...56,753,195
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Ivl
involucrin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18572023
NCBI chr 2:178,146,694...178,160,807
Ensembl chr 2:178,147,061...178,149,100
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Kdr
kinase insert domain receptor
ISO
RGD
PMID:16251423
RGD:8551848
NCBI chr14:32,217,871...32,261,018
Ensembl chr14:32,217,871...32,261,018
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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 More...
NCBI chr 7:34,896,075...34,977,215
Ensembl chr 7:34,896,053...34,977,214
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Klf5
KLF transcription factor 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27158780
NCBI chr15:76,060,320...76,079,445
Ensembl chr15:76,064,258...76,079,445
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Kmt2c
lysine methyltransferase 2C
severity
ISO
DNA:mutations:multiple (human)
RGD
PMID:25303977
RGD:9588232
NCBI chr 4:9,620,638...9,834,787
Ensembl chr 4:9,609,627...9,833,539
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Knstrn
kinetochore-localized astrin/SPAG5 binding protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25194279
NCBI chr 3:105,800,762...105,820,555
Ensembl chr 3:105,800,954...105,820,715
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Kras
KRAS proto-oncogene, GTPase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19435901 PMID:25125259
NCBI chr 4:178,185,418...178,218,484
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Krt1
keratin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18572023
NCBI chr 7:132,976,618...132,981,844
Ensembl chr 7:132,976,620...132,981,844
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Krt10
keratin 10
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18572023
NCBI chr10:84,338,695...84,343,279
Ensembl chr10:84,338,706...84,343,701
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Krt14
keratin 14
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16543248
NCBI chr10:85,137,786...85,142,054
Ensembl chr10:85,066,802...85,171,799
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Lgals7
galectin 7
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15274141
NCBI chr 1:84,148,612...84,152,016
Ensembl chr 1:84,150,252...84,152,015
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Lgr6
leucine-rich repeat-containing G protein-coupled receptor 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28945253
NCBI chr13:46,424,382...46,544,074
Ensembl chr13:46,424,383...46,543,945
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Loricrin
loricrin cornified envelope precursor protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18572023
NCBI chr 2:177,558,062...177,560,960
Ensembl chr 2:177,558,252...177,559,807
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Lta4h
leukotriene A4 hydrolase
IEP
protein:increased expression:tongue, carcinoma, stroma (rat)
RGD
PMID:17985342
RGD:2316582
NCBI chr 7:27,969,796...28,001,600
Ensembl chr 7:27,969,789...28,001,600
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Lzts1
leucine zipper tumor suppressor 1
ISO
esophageal squamous cell carcinoma, OMIM:133239
RGD
PMID:10097140
RGD:1600104
NCBI chr16:20,542,756...20,598,204
Ensembl chr16:20,542,809...20,598,203
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Mal
mal, T-cell differentiation protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19445022
NCBI chr 3:114,864,378...114,888,136
Ensembl chr 3:114,864,378...114,888,136
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Manf
mesencephalic astrocyte-derived neurotrophic factor
susceptibility
ISO
RGD
PMID:8971156
RGD:1599219
NCBI chr 8:107,500,856...107,551,595
Ensembl chr 8:107,548,352...107,551,438
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Mapk1
mitogen activated protein kinase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21401805
NCBI chr11:83,957,813...84,023,629
Ensembl chr11:83,957,813...84,023,616
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Mapk3
mitogen activated protein kinase 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21401805
NCBI chr 1:181,366,646...181,372,863
Ensembl chr 1:181,366,637...181,372,863
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Met
MET proto-oncogene, receptor tyrosine kinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22948846
NCBI chr 4:45,790,456...45,898,139
Ensembl chr 4:45,790,791...45,897,876
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Mir205
microRNA 205
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21563230
NCBI chr13:105,035,878...105,035,985
Ensembl chr13:105,035,878...105,035,985
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Mlh1
mutL homolog 1
ISO
ClinVar Annotator: match by term: Squamous cell carcinoma
ClinVar
PMID:27993330
NCBI chr 8:111,196,468...111,233,721
Ensembl chr 8:111,196,468...111,233,617
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Mmp2
matrix metallopeptidase 2
ISO
protein:increased expression:nasal mucosa
RGD
PMID:21624249
RGD:8657057
NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870
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Mmp9
matrix metallopeptidase 9
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 chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
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Mrpl13
mitochondrial ribosomal protein L13
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15274141
NCBI chr 7:86,951,541...86,973,147
Ensembl chr 7:86,951,541...86,973,577
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Ms4a1
membrane spanning 4-domains A1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22514692
NCBI chr 1:207,906,370...207,927,028
Ensembl chr 1:207,906,374...207,918,512
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Mt1
metallothionein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17418620
NCBI chr19:10,826,032...10,827,048
Ensembl chr19:10,826,032...10,827,049 Ensembl chr17:10,826,032...10,827,049
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Mthfr
methylenetetrahydrofolate reductase
susceptibility
ISO
DNA:transition:cds:g.677C>T (human)
RGD
PMID:17627246
RGD:6893580
NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797
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Muc5ac
mucin 5AC, oligomeric mucus/gel-forming
ISO
ClinVar Annotator: match by term: Squamous cell carcinoma
ClinVar
PMID:27993330
NCBI chr 1:196,864,336...196,896,475
Ensembl chr 1:196,864,336...196,896,475
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Myc
MYC proto-oncogene, bHLH transcription factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26432044
NCBI chr 7:93,593,705...93,598,633
Ensembl chr 7:93,593,705...93,598,630
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Ncoa3
nuclear receptor coactivator 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20852035
NCBI chr 3:154,738,566...154,821,395
Ensembl chr 3:154,738,581...154,818,594
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Nfe2l2
NFE2 like bZIP transcription factor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18572023
NCBI chr 3:60,594,239...60,621,712
Ensembl chr 3:60,594,242...60,621,737
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Nkx2-1
NK2 homeobox 1
ISO
ClinVar Annotator: match by term: Squamous cell carcinoma
ClinVar
PMID:27993330
NCBI chr 6:73,996,601...74,001,483
Ensembl chr 6:73,996,601...73,999,791
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Nlrp3
NLR family, pyrin domain containing 3
ISO
ClinVar Annotator: match by term: Squamous cell carcinoma
ClinVar
PMID:27993330
NCBI chr10:44,326,770...44,353,814
Ensembl chr10:44,328,566...44,352,811
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Nme1
NME/NM23 nucleoside diphosphate kinase 1
severity
ISO
protein:decreased expression:tumor (human)
RGD
PMID:8978595
RGD:5133245
NCBI chr10:78,907,036...78,929,659
Ensembl chr10:78,906,083...78,916,408
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Notch1
notch receptor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27923803
NCBI chr 3:9,277,955...9,323,531
Ensembl chr 3:9,278,086...9,323,531
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Notch2
notch receptor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27923803
NCBI chr 2:185,610,594...185,744,088
Ensembl chr 2:185,610,589...185,744,088
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Notch3
notch receptor 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27923803
NCBI chr 7:11,132,984...11,184,025
Ensembl chr 7:11,133,706...11,184,025
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Notch4
notch receptor 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27923803
NCBI chr20:4,160,362...4,184,466
Ensembl chr20:4,160,445...4,184,465
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Oca2
OCA2 melanosomal transmembrane protein
susceptibility
ISO
DNA:missense mutation:cds:p.A481T (rs74653330) (human)
RGD
PMID:24617981
RGD:9491831
NCBI chr 1:107,116,278...107,446,093
Ensembl chr 1:107,116,278...107,446,074
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Ogg1
8-oxoguanine DNA glycosylase
ISO
RGD
PMID:16024598
RGD:8657138
NCBI chr 4:146,474,701...146,481,959
Ensembl chr 4:146,474,750...146,484,766
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Pgam1
phosphoglycerate mutase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15274141
NCBI chr 1:240,723,832...240,731,443
Ensembl chr 1:240,723,920...240,738,452
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Pik3ca
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24224046
NCBI chr 2:115,175,275...115,249,034
Ensembl chr 2:115,174,984...115,249,032
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Plau
plasminogen activator, urokinase
severity
ISO
mRNA:increased expression:oral cavity (human)
RGD
PMID:12866027
RGD:7241134
NCBI chr15:3,456,230...3,462,732
Ensembl chr15:3,456,232...3,462,775
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Ppia
peptidylprolyl isomerase A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15274141
NCBI chr14:81,279,292...81,282,960
Ensembl chr14:81,275,091...81,299,601
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Prkdc
protein kinase, DNA-activated, catalytic subunit
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25125259
NCBI chr11:85,040,790...85,258,357
Ensembl chr11:85,040,792...85,257,952
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Prtfdc1
phosphoribosyl transferase domain containing 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17599052
NCBI chr17:83,549,608...83,654,517
Ensembl chr17:83,548,803...83,655,179
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Pten
phosphatase and tensin homolog
ISO
ClinVar Annotator: match by term: Squamous cell carcinoma
ClinVar
PMID:27993330
NCBI chr 1:230,630,443...230,697,070
Ensembl chr 1:230,630,338...230,696,838
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Ptger1
prostaglandin E receptor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21739481
NCBI chr19:24,470,258...24,473,687
Ensembl chr19:24,467,532...24,473,559
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Ptgs2
prostaglandin-endoperoxide synthase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16543248 PMID:18202791
NCBI chr13:62,163,936...62,172,193
Ensembl chr13:62,163,932...62,172,188
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Ptk2
protein tyrosine kinase 2
ISO
CTD Direct Evidence: marker/mechanism|therapeutic
CTD
PMID:21401805 PMID:25199511
NCBI chr 7:105,126,725...105,331,848
Ensembl chr 7:105,126,728...105,331,783
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Ptpn11
protein tyrosine phosphatase, non-receptor type 11
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26432044
NCBI chr12:35,365,436...35,424,925
Ensembl chr12:35,383,144...35,424,925
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Pycard
PYD and CARD domain containing
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16778195
NCBI chr 1:182,601,657...182,603,013
Ensembl chr 1:182,601,174...182,602,955
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Rack1
receptor for activated C kinase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15274141
NCBI chr10:33,169,415...33,174,896
Ensembl chr10:33,169,169...33,174,975
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Rad52
RAD52 homolog, DNA repair protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26013599
NCBI chr 4:153,106,062...153,128,598
Ensembl chr 4:153,106,062...153,128,207
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Rarb
retinoic acid receptor, beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17549354
NCBI chr15:8,700,533...9,051,288
Ensembl chr15:8,406,492...9,051,288
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Rasa1
RAS p21 protein activator 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27158780
NCBI chr 2:15,857,704...15,940,757
Ensembl chr 2:15,857,980...15,940,854
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Rb1
RB transcriptional corepressor 1
ISO
ClinVar Annotator: match by term: Squamous cell carcinoma
ClinVar
PMID:27993330
NCBI chr15:48,371,295...48,502,473
Ensembl chr15:48,371,296...48,502,302
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Rin3
Ras and Rab interactor 3
ISO
ClinVar Annotator: match by term: Squamous cell carcinoma
ClinVar
PMID:27993330
NCBI chr 6:121,431,776...121,540,956
Ensembl chr 6:121,431,339...121,540,957
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Ripk1
receptor interacting serine/threonine kinase 1
ISO
RGD
PMID:19778795
RGD:7777170
NCBI chr17:30,839,639...30,871,824
Ensembl chr17:30,839,650...30,871,824
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Rnf168
ring finger protein 168
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:34873829
NCBI chr11:68,486,313...68,508,296
Ensembl chr11:68,486,321...68,508,277
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Rnf6
ring finger protein 6
ISO
RGD
PMID:12154016
RGD:1599613
NCBI chr12:8,816,797...8,826,870
Ensembl chr12:8,816,833...8,826,847
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Ros1
ROS proto-oncogene 1 , receptor tyrosine kinase
ISO
ClinVar Annotator: match by term: Squamous cell carcinoma
ClinVar
PMID:27993330
NCBI chr20:31,432,636...31,583,998
Ensembl chr20:31,432,637...31,583,865
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Rpe65
retinoid isomerohydrolase RPE65
ISO
mRNA:decreased expression:skin (human)
RGD
PMID:16181461
RGD:9495923
NCBI chr 2:248,766,497...248,798,403
Ensembl chr 2:248,766,612...248,798,403
G
Sem1
SEM1 26S proteasome subunit
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18922899
NCBI chr 4:34,671,848...34,692,005
Ensembl chr 4:34,671,848...34,692,005
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Serpina1
serpin family A member 1
ISO
ClinVar Annotator: match by term: Squamous cell carcinoma
ClinVar
PMID:27993330
NCBI chr 6:122,866,314...122,888,339
Ensembl chr 6:122,866,312...122,888,339
G
Serpinb3
serpin family B member 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15274141
NCBI chr13:23,274,120...23,280,660
Ensembl chr13:23,274,484...23,313,682
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Sfn
stratifin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15274141
NCBI chr 5:145,826,722...145,827,994
Ensembl chr 5:145,826,201...145,831,314
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Sirt3
sirtuin 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21472714
NCBI chr 1:195,942,066...195,964,472
Ensembl chr 1:195,942,073...195,964,808
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Slc45a2
solute carrier family 45, member 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19578363
NCBI chr 2:59,963,599...59,996,408
Ensembl chr 2:59,963,706...59,996,317
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Smurf2
SMAD specific E3 ubiquitin protein ligase 2
ISO
esophageal
RGD
PMID:17726579
RGD:2302550
NCBI chr10:91,761,798...91,862,485
Ensembl chr10:91,761,807...91,862,488
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Sod2
superoxide dismutase 2
ISO
CTD Direct Evidence: marker/mechanism|therapeutic
CTD
PMID:12543247 PMID:15274141
NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189
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Sox2
SRY-box transcription factor 2
ISO
protein:increased expression:mammalian vulva, epithelium CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:19801978 PMID:23518916
RGD:8661666
NCBI chr 2:117,536,929...117,539,340
Ensembl chr 2:117,536,929...117,539,338
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Sprr1a
small proline-rich protein 1A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:8617999
NCBI chr 2:178,055,096...178,057,012
Ensembl chr 2:178,055,096...178,057,063
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Stat3
signal transducer and activator of transcription 3
disease_progression
ISO
protein:increased phosphorylation:skin CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:17566705 PMID:26432044 PMID:16043897
RGD:8694300
NCBI chr10:85,811,206...85,863,057
Ensembl chr10:85,811,218...85,863,057
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Stk11
serine/threonine kinase 11
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Squamous cell carcinoma
CTD ClinVar
PMID:17676035 PMID:27993330
NCBI chr 7:9,574,553...9,591,315
Ensembl chr 7:9,575,269...9,591,315
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Terc
telomerase RNA component
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:16051514
NCBI chr 2:112,815,654...112,816,041
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Terf1
telomeric repeat binding factor 1
ISO
RGD
PMID:19679647
RGD:2317221
NCBI chr 5:3,443,103...3,472,377
Ensembl chr 5:3,443,106...3,472,340
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Tet2
tet methylcytosine dioxygenase 2
ISO
ClinVar Annotator: match by term: Squamous cell carcinoma
ClinVar
PMID:27993330
NCBI chr 2:221,988,645...222,072,813
Ensembl chr 2:221,988,645...222,072,534
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Tgfb1
transforming growth factor, beta 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20852150
NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847
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Tiam1
TIAM Rac1 associated GEF 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27862620
NCBI chr11:29,031,347...29,380,153
Ensembl chr11:29,031,348...29,159,901
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Tlr4
toll-like receptor 4
ISO
ClinVar Annotator: match by term: Squamous cell carcinoma
ClinVar
PMID:27993330
NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628
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Tlr9
toll-like receptor 9
ISO
invasive squamous cell carcinoma of the cervix
RGD
PMID:17440926
RGD:2301099
NCBI chr 8:106,864,680...106,868,796
Ensembl chr 8:106,864,680...106,868,796
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Tnfrsf1a
TNF receptor superfamily member 1A
ISO
RGD
PMID:15044707
RGD:8661739
NCBI chr 4:158,150,815...158,163,592
Ensembl chr 4:158,150,820...158,163,591
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Tp53
tumor protein p53
ISO
ClinVar Annotator: match by term: Epidermoid carcinoma | ClinVar Annotator: match by term: Squamous cell 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 chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
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Tp63
tumor protein p63
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21527555
NCBI chr11:74,838,858...75,049,764
Ensembl chr11:74,838,859...75,049,398
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Tpi1
triosephosphate isomerase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15274141
NCBI chr 4:157,615,283...157,618,813
Ensembl chr 4:157,615,386...157,619,541
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Tsc1
TSC complex subunit 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18538015
NCBI chr 3:11,969,547...12,018,591
Ensembl chr 3:11,979,729...12,015,674
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Tsc2
TSC complex subunit 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18538015
NCBI chr10:13,621,135...13,655,773
Ensembl chr10:13,621,136...13,655,951
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Tyms
thymidylate synthetase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16280240
NCBI chr 9:113,313,454...113,329,551
Ensembl chr 9:113,313,452...113,329,536
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Uba1
ubiquitin-like modifier activating enzyme 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19014429
NCBI chr X:1,508,700...1,530,677
Ensembl chr X:1,508,666...1,530,636
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Uba7
ubiquitin-like modifier activating enzyme 7
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19014429
NCBI chr 8:108,665,289...108,674,097
Ensembl chr 8:108,665,292...108,674,099
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Umps
uridine monophosphate synthetase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16757204
NCBI chr11:66,806,107...66,816,520
Ensembl chr11:66,806,045...66,821,903
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Vdac2
voltage-dependent anion channel 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15274141
NCBI chr15:2,462,877...2,476,802
Ensembl chr15:2,463,056...2,476,553
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Vdr
vitamin D receptor
ISO
DNA:SNPs, haplotype: :rs731236, rs7975232 (human) DNA:SNP: :rs1544410 (human)
RGD
PMID:22213323 PMID:16950800
RGD:8158063 , RGD:8158080
NCBI chr 7:128,987,981...129,037,677
Ensembl chr 7:128,987,981...129,037,677
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Vegfa
vascular endothelial growth factor A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15956251 PMID:26432044
NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641
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Wwox
WW domain-containing oxidoreductase
ISO
esophageal squamous cell carcinoma, OMIM:133239 CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:17575124 PMID:11956080
RGD:1599874
NCBI chr19:42,432,141...43,360,278
Ensembl chr19:42,432,152...43,359,391
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Xpc
XPC complex subunit, DNA damage recognition and repair factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27777383
NCBI chr 4:123,993,670...124,020,922
Ensembl chr 4:123,993,666...124,021,010
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Xrcc5
X-ray repair cross complementing 5
ISO
protein:increased expression:epidermal cell, squamous cell of epidermis (human)
RGD
PMID:16497868
RGD:8698657
NCBI chr 9:73,955,216...74,044,020
Ensembl chr 9:73,955,216...74,044,018
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Xrcc6
X-ray repair cross complementing 6
ISO
protein:increased expression:epidermal cell, squamous cell of epidermis (human)
RGD
PMID:16497868
RGD:8698657
NCBI chr 7:113,542,992...113,563,762
Ensembl chr 7:113,543,057...113,563,762
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Hnf1a
HNF1 homeobox A
ISO
RGD
PMID:10489374
RGD:150540314
NCBI chr12:41,638,536...41,672,806
Ensembl chr12:41,645,587...41,672,104
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Ddr2
discoidin domain receptor tyrosine kinase 2
disease_progression
ISO
RGD
PMID:29043607
RGD:150429712
NCBI chr13:82,193,623...82,318,229
Ensembl chr13:82,195,463...82,317,363
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Ifitm1
interferon induced transmembrane protein 1
disease_progression
ISO
RGD
PMID:29043607
RGD:150429712
NCBI chr 1:196,067,163...196,069,169
Ensembl chr 1:196,067,963...196,069,169
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Ttr
transthyretin
ISO
protein:increased expression:lung (human)
RGD
PMID:26943652
RGD:151665207
NCBI chr18:11,941,791...11,951,008
Ensembl chr18:11,943,789...11,951,008
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Ptch1
patched 1
ISO
DNA:missense mutations, nonsense mutations
RGD
PMID:25395299
RGD:150523793
NCBI chr17:1,542,705...1,607,730
Ensembl chr17:1,542,877...1,607,333
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Pten
phosphatase and tensin homolog
disease_progression
ISO
associated with schistosomiasis;protein:decreased expression:urothelium (human)
RGD
PMID:26916953
RGD:127285612
NCBI chr 1:230,630,443...230,697,070
Ensembl chr 1:230,630,338...230,696,838
G
Ccnd1
cyclin D1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29103775
NCBI chr 1:200,089,002...200,098,524
Ensembl chr 1:200,089,002...200,098,602
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Ccne1
cyclin E1
ISO
associated with Vulvar Neoplasms;mRNA:increased expression:vulva
RGD
PMID:17471573
RGD:2289255
NCBI chr 1:90,781,947...90,791,188
Ensembl chr 1:90,781,949...90,791,101
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Cdkn1a
cyclin-dependent kinase inhibitor 1A
ISO
protein:increased expression:skin:
RGD
PMID:10583111
RGD:8662826
NCBI chr20:7,149,177...7,159,727
Ensembl chr20:7,149,217...7,159,585
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Nrf1
nuclear respiratory factor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21514422
NCBI chr 4:58,664,932...58,772,328
Ensembl chr 4:58,664,957...58,825,328
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Ppargc1a
PPARG coactivator 1 alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21514422
NCBI chr14:58,860,752...59,516,525
Ensembl chr14:58,861,144...59,512,656
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Tfam
transcription factor A, mitochondrial
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21514422
NCBI chr20:17,356,243...17,368,293
Ensembl chr20:17,356,197...17,368,292
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Sash1
SAM and SH3 domain containing 1
ISO
ClinVar Annotator: match by term: Cancer, alopecia, pigment dyscrasia, onychodystrophy, and keratoderma
OMIM ClinVar
PMID:25315659 PMID:25741868
NCBI chr 1:3,119,915...3,418,536
Ensembl chr 1:3,121,332...3,439,870
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Adar
adenosine deaminase, RNA-specific
disease_progression
ISO
protein:increased expression:cervix squamous epithelium (human)
RGD
PMID:28109322
RGD:125097518
NCBI chr 2:175,138,391...175,178,280
Ensembl chr 2:175,138,403...175,178,282
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Bax
BCL2 associated X, apoptosis regulator
ISO
protein:increased expression:uterine cervix
RGD
PMID:17694953
RGD:1643352
NCBI chr 1:95,940,001...95,945,407
Ensembl chr 1:95,938,808...95,945,368
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Birc2
baculoviral IAP repeat-containing 2
disease_progression
ISO
DNA, protein:amplification, increased expression:uterine cervix, nucleus
RGD
PMID:12208731
RGD:1643529
NCBI chr 8:4,968,856...4,989,325
Ensembl chr 8:4,968,842...4,988,732
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Brip1
BRCA1 interacting helicase 1
severity
ISO
mRNA, protein:increased expression:uterine cervix, nucleus (human)
RGD
PMID:24708616
RGD:11252104
NCBI chr10:70,907,266...71,031,502
Ensembl chr10:70,907,371...71,030,324
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Ccl22
C-C motif chemokine ligand 22
severity
ISO
RGD
PMID:28086903
RGD:38455996
NCBI chr19:10,257,602...10,264,373
Ensembl chr19:10,257,601...10,264,400
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Ccr4
C-C motif chemokine receptor 4
severity
ISO
RGD
PMID:28086903
RGD:38455996
NCBI chr 8:114,176,291...114,182,033
Ensembl chr 8:114,176,974...114,178,056
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Cd82
Cd82 molecule
ISO
protein:decreased expression:uterine cervix
RGD
PMID:15642213
RGD:2289399
NCBI chr 3:79,387,361...79,431,847
Ensembl chr 3:79,385,887...79,431,809
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Csf1r
colony stimulating factor 1 receptor
ISO
protein:increased expression:uterine cervix
RGD
PMID:18565574
RGD:2299119
NCBI chr18:54,546,673...54,590,418
Ensembl chr18:54,546,659...54,590,415
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Fgf7
fibroblast growth factor 7
ISO
cervical squamous cell carcinoma
RGD
PMID:17306351
RGD:2289084
NCBI chr 3:113,280,448...113,333,279
Ensembl chr 3:113,281,283...113,332,929
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Fgfr3
fibroblast growth factor receptor 3
no_association
ISO
DNA:missense mutation:cds: p.S249G (human)
RGD
PMID:11605053
RGD:38500202
NCBI chr14:76,987,242...77,002,671
Ensembl chr14:76,987,993...77,003,341
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Fos
Fos proto-oncogene, AP-1 transcription factor subunit
disease_progression
ISO
protein:increased expression:uterine cervix
RGD
PMID:15514944
RGD:2293757
NCBI chr 6:105,121,170...105,124,036
Ensembl chr 6:105,121,170...105,124,036
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Fosl1
FOS like 1, AP-1 transcription factor subunit
ISO
protein:decreased expression:uterine cervix
RGD
PMID:15514944
RGD:2293757
NCBI chr 1:202,754,549...202,763,057
Ensembl chr 1:202,754,529...202,764,930
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Foxp3
forkhead box P3
severity
ISO
RGD
PMID:28086903
RGD:38455996
NCBI chr X:14,908,494...14,924,994
Ensembl chr X:14,908,494...14,923,838
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Mir21
microRNA 21
ISO
RNA:increased expression:cervical cell
RGD
PMID:26010154
RGD:41404529
NCBI chr10:71,405,257...71,405,348
Ensembl chr10:71,405,257...71,405,348
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Mir31
microRNA 31
ISO
RNA:increased expression:blood serum (human)
RGD
PMID:21658006
RGD:152998938
NCBI chr 5:103,599,038...103,599,143
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Pdpn
podoplanin
disease_progression
ISO
RGD
PMID:16528371
RGD:2292237
NCBI chr 5:155,601,691...155,635,656
Ensembl chr 5:155,601,691...155,635,656
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Smad3
SMAD family member 3
severity
ISO
RGD
PMID:28086903
RGD:38455996
NCBI chr 8:64,126,829...64,236,960
Ensembl chr 8:64,110,039...64,236,960
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Timp2
TIMP metallopeptidase inhibitor 2
ISO
protein:decreased expression:uterine cervix
RGD
PMID:16619570
RGD:2290402
NCBI chr10:103,541,199...103,590,611
Ensembl chr10:103,531,505...103,590,611
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Tmbim6
transmembrane BAX inhibitor motif containing 6
disease_progression
ISO
mRNA:increased expression:uterine cervix
RGD
PMID:15337562
RGD:2291959
NCBI chr 7:130,527,313...130,542,567
Ensembl chr 7:130,527,316...130,543,633
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Tnfrsf4
TNF receptor superfamily member 4
severity
ISO
RGD
PMID:28086903
RGD:38455996
NCBI chr 5:166,606,909...166,609,599
Ensembl chr 5:166,606,909...166,609,599
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Tnfsf4
TNF superfamily member 4
severity
ISO
RGD
PMID:28086903
RGD:38455996
NCBI chr13:73,723,329...73,746,809
Ensembl chr13:73,723,329...73,746,788
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Tp53
tumor protein p53
disease_progression
ISO
RGD
PMID:17969407
RGD:2298526
NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
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Tymp
thymidine phosphorylase
disease_progression
ISO
RGD
PMID:16803522
RGD:2293719
NCBI chr 7:120,438,768...120,444,088
Ensembl chr 7:120,438,770...120,443,874 Ensembl chr 7:120,438,770...120,443,874
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Adam3a
ADAM metallopeptidase domain 3A
ISO
DNA, mRNA:amplification, increase expression
RGD
PMID:25491297
RGD:13831354
NCBI chr16:67,299,949...67,349,970
Ensembl chr16:67,299,949...67,349,968
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Abcc2
ATP binding cassette subfamily C member 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21206495
NCBI chr 1:242,664,657...242,723,239
Ensembl chr 1:242,664,657...242,723,238
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Adcyap1
adenylate cyclase activating polypeptide 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21517111
NCBI chr 9:113,102,632...113,122,500
Ensembl chr 9:113,103,718...113,109,773
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Ajuba
ajuba LIM protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25151357
NCBI chr15:28,019,775...28,031,537
Ensembl chr15:28,019,778...28,030,021
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Akt1
AKT serine/threonine kinase 1
disease_progression
ISO
protein:increased expression:esophagus (human)
RGD
PMID:32642408
RGD:152995512
NCBI chr 6:131,713,716...131,735,319
Ensembl chr 6:131,713,720...131,733,921
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Aldh2
aldehyde dehydrogenase 2 family member
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16639733 PMID:22960999
NCBI chr12:34,949,549...34,982,527
Ensembl chr12:34,901,219...34,982,521
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Anxa1
annexin A1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21517111
NCBI chr 1:217,861,175...217,877,205
Ensembl chr 1:217,861,175...217,877,343
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Atm
ATM serine/threonine kinase
disease_progression
ISO
Smoke Inhalation Injury; mRNA:increased expression:esophagus (human)
RGD
PMID:17019709
RGD:150340713
NCBI chr 8:53,828,741...53,932,773
Ensembl chr 8:53,831,093...53,932,437
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Atp1b2
ATPase Na+/K+ transporting subunit beta 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25129146
NCBI chr10:54,318,698...54,324,933
Ensembl chr10:54,318,701...54,324,933
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Axin1
axin 1
disease_progression
ISO
protein:decreased expression:esophagus (human)
RGD
PMID:12771989
RGD:150530473
NCBI chr10:15,163,477...15,215,615
Ensembl chr10:15,163,684...15,215,615
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Azgp1
alpha-2-glycoprotein 1, zinc-binding
disease_progression
ISO
RGD
PMID:28053542
RGD:153350138
NCBI chr12:16,930,990...16,939,333
Ensembl chr12:16,931,024...16,939,091
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Azin1
antizyme inhibitor 1
ISO
RGD
PMID:24302582
RGD:14700707
NCBI chr 7:69,654,773...69,681,578
Ensembl chr 7:69,654,663...69,681,578
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B2m
beta-2 microglobulin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21517111
NCBI chr 3:109,095,740...109,101,764
Ensembl chr 3:109,095,729...109,101,766
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Blvrb
biliverdin reductase B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21517111
NCBI chr 1:82,738,646...82,756,312
Ensembl chr 1:82,738,695...82,770,375
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Bmi1
BMI1 proto-oncogene, polycomb ring finger
ISO
RGD
PMID:21165554
RGD:126781701
NCBI chr17:81,332,175...81,341,625
Ensembl chr17:81,332,214...81,388,690
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Bmp6
bone morphogenetic protein 6
ISO
protein:increased expression:esophagus
RGD
PMID:22364398
RGD:7242413
NCBI chr17:26,318,121...26,469,691
Ensembl chr17:26,318,569...26,470,365
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Brca1
BRCA1, DNA repair associated
ISO
DNA:SNP: :rs799917 (human)
RGD
PMID:23749772
RGD:126925960
NCBI chr10:86,417,441...86,477,762
Ensembl chr10:86,418,000...86,477,304
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Brca2
BRCA2, DNA repair associated
ISO
DNA:nonsense mutation: :p.K3326X (human)
RGD
PMID:21279724
RGD:11344913
NCBI chr12:59,492...103,789
Ensembl chr12:59,819...100,567
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Bst2
bone marrow stromal cell antigen 2
disease_progression
ISO
RGD
PMID:26832883
RGD:14398496
NCBI chr16:18,216,605...18,220,979
Ensembl chr16:18,217,407...18,220,979
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Bub1b
BUB1 mitotic checkpoint serine/threonine kinase B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18691855
NCBI chr 3:105,563,089...105,615,547
Ensembl chr 3:105,563,138...105,615,547
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Calr
calreticulin
ameliorates
ISO
CTD Direct Evidence: marker/mechanism human cells in a mouse model
CTD RGD
PMID:21517111 PMID:19684620 PMID:23814025
RGD:150521703 , RGD:150521679
NCBI chr19:23,308,525...23,313,420
Ensembl chr19:23,308,351...23,313,414
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Capza1
capping actin protein of muscle Z-line subunit alpha 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21517111
NCBI chr 2:192,319,696...192,364,755
Ensembl chr 2:192,319,702...192,364,480
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Car1
carbonic anhydrase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21517111
NCBI chr 2:86,829,436...86,872,209
Ensembl chr 2:86,861,897...86,872,208
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Car12
carbonic anhydrase 12
severity
ISO
RGD
PMID:26316888
RGD:155226859
NCBI chr 8:67,274,739...67,330,428
Ensembl chr 8:67,274,359...67,330,440
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Car2
carbonic anhydrase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21517111
NCBI chr 2:86,741,625...86,756,766
Ensembl chr 2:86,741,626...86,756,818
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Casp8
caspase 8
exacerbates
ISO
mRNA,protein:decreased expression:esophagus squamous epithelium (human)
RGD
PMID:31885720
RGD:153300949
NCBI chr 9:60,263,863...60,312,542
Ensembl chr 9:60,264,075...60,312,542
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Cbx8
chromobox 8
severity
ISO
mRNA:increased expression:esophagus:
RGD
PMID:25197352
RGD:9587436
NCBI chr10:104,294,518...104,296,956
Ensembl chr10:104,294,518...104,297,024
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Cchcr1
coiled-coil alpha-helical rod protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29379198
NCBI chr20:3,205,675...3,218,437
Ensembl chr20:3,205,676...3,218,308
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Ccnd1
cyclin D1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25151357
NCBI chr 1:200,089,002...200,098,524
Ensembl chr 1:200,089,002...200,098,602
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Cdkn1a
cyclin-dependent kinase inhibitor 1A
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:15375580
NCBI chr20:7,149,177...7,159,727
Ensembl chr20:7,149,217...7,159,585
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Cdkn2a
cyclin-dependent kinase inhibitor 2A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25151357
NCBI chr 5:103,984,949...103,992,143
Ensembl chr 5:103,984,949...104,003,149
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Cdkn2b
cyclin-dependent kinase inhibitor 2B
ISO
DNA:SNPs: :rs615552, rs573687 (human)
RGD
PMID:23361049
RGD:7248756
NCBI chr 5:104,009,839...104,019,082
Ensembl chr 5:104,010,680...104,019,050
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Cfl1
cofilin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21517111
NCBI chr 1:202,796,012...202,801,337
Ensembl chr 1:202,786,627...202,817,587
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Chrna5
cholinergic receptor nicotinic alpha 5 subunit
susceptibility
ISO
DNA:SNP: :rs667282(human) mRNA:increased expression:esophagus (human)
RGD
PMID:23844051 PMID:27610024
RGD:150524358 , RGD:151361143
NCBI chr 8:55,369,794...55,398,526
Ensembl chr 8:55,369,794...55,398,146
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Chrna7
cholinergic receptor nicotinic alpha 7 subunit
exacerbates disease_progression
ISO
mRNA:increased expression:esophagus (human)
RGD
PMID:27610024 PMID:33603170 PMID:33603170
RGD:151361143 , RGD:151667905 , RGD:151667905
NCBI chr 1:116,711,559...116,837,269
Ensembl chr 1:116,714,711...116,837,240
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Chrnb4
cholinergic receptor nicotinic beta 4 subunit
ISO
mRNA:increased expression:esophagus (human)
RGD
PMID:27610024
RGD:151361143
NCBI chr 8:55,417,583...55,437,027
Ensembl chr 8:55,418,313...55,437,027
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Clic1
chloride intracellular channel 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21517111
NCBI chr20:3,764,867...3,773,711
Ensembl chr20:3,761,461...3,773,712
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Clptm1l
CLPTM1-like
susceptibility no_association
ISO
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 1:29,667,545...29,683,530
Ensembl chr 1:29,667,545...29,683,530
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Col14a1
collagen type XIV alpha 1 chain
disease_progression
ISO
DNA:hypermethylation
RGD
PMID:25050929
RGD:151665741
NCBI chr 7:86,722,093...86,937,215
Ensembl chr 7:86,722,094...86,937,214
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Crabp1
cellular retinoic acid binding protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17438526
NCBI chr 8:55,138,363...55,159,360
Ensembl chr 8:55,151,285...55,159,360
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Crebbp
CREB binding protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25151357
NCBI chr10:11,335,551...11,461,888
Ensembl chr10:11,335,953...11,461,888
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Csf1r
colony stimulating factor 1 receptor
ISO
mRNA:decreased expression:esophagus squamous epithelium (human)
RGD
PMID:32038997
RGD:150524298
NCBI chr18:54,546,673...54,590,418
Ensembl chr18:54,546,659...54,590,415
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Cstb
cystatin B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21517111
NCBI chr20:10,245,462...10,247,505
Ensembl chr20:10,245,462...10,247,526
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Ctnnb1
catenin beta 1
ISO
ClinVar Annotator: match by term: Esophageal squamous cell carcinoma
ClinVar
PMID:25157968 PMID:25741868 PMID:26619011
NCBI chr 8:120,640,008...120,667,110
Ensembl chr 8:120,639,995...120,667,111
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Cxcr4
C-X-C motif chemokine receptor 4
disease_progression
ISO
protein:increased expression:esophagus squamous epithelium (human)
RGD
PMID:17171785
RGD:152023646
NCBI chr13:40,077,976...40,081,883
Ensembl chr13:40,077,976...40,081,883
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Cyp1a1
cytochrome P450, family 1, subfamily a, polypeptide 1
ISO
RGD
PMID:11860825
RGD:14700943
NCBI chr 8:58,096,021...58,102,130
Ensembl chr 8:58,096,077...58,102,125
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Cyp1b1
cytochrome P450, family 1, subfamily b, polypeptide 1
IEP
protein:increased expression:esophagus (rat)
RGD
PMID:18618592
RGD:7829715
NCBI chr 6:15,342,312...15,350,886
Ensembl chr 6:15,342,344...15,350,917
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Cyp24a1
cytochrome P450, family 24, subfamily a, polypeptide 1
susceptibility
ISO
DNA:SNP:CDS: (rs2296241) (human)
RGD
PMID:28362172
RGD:151665500
NCBI chr 3:159,275,947...159,290,383
Ensembl chr 3:159,275,947...159,290,383
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Cyp26b1
cytochrome P450, family 26, subfamily b, polypeptide 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29379198
NCBI chr 4:117,041,808...117,058,628
Ensembl chr 4:117,041,808...117,058,628
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Dab2ip
DAB2 interacting protein
severity
ISO
protein:decreased expression:esophagus (human)
RGD
PMID:30464518
RGD:151665168
NCBI chr 3:18,915,290...19,086,282
Ensembl chr 3:18,915,290...19,086,280
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Dcc
DCC netrin 1 receptor
ISO
DNA:deletions:multiple (human)
OMIM RGD
PMID:8187090
RGD:734879
NCBI chr18:64,868,987...65,972,783
Ensembl chr18:64,873,898...65,972,740
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Dido1
death inducer-obliterator 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30431698
NCBI chr 3:167,772,535...167,825,894
Ensembl chr 3:167,772,770...167,817,218
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Dnmt3b
DNA methyltransferase 3 beta
disease_progression
ISO
protein:increased expression:nucleus:
RGD
PMID:22213175
RGD:9589085
NCBI chr 3:142,130,588...142,169,128
Ensembl chr 3:142,130,592...142,169,124
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Dpp4
dipeptidylpeptidase 4
ISO
protein:increased expression: esophagus
RGD
PMID:24789592
RGD:152600903
NCBI chr 3:46,962,233...47,043,870
Ensembl chr 3:46,962,243...47,043,901
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Efnb2
ephrin B2
severity exacerbates ameliorates
ISO
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 chr16:80,783,389...80,827,420
Ensembl chr16:80,783,417...80,824,391
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Egfr
epidermal growth factor receptor
severity
ISO
protein:increased expression:esophagus (human) CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Esophageal squamous cell carcinoma
CTD ClinVar RGD
PMID:21947696 PMID:23485129 PMID:25157968 PMID:10385363
RGD:5131486
NCBI chr14:91,176,979...91,349,722
Ensembl chr14:91,177,067...91,344,382
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Ehmt1
euchromatic histone lysine methyltransferase 1
disease_progression
ISO
protein:increased expression:esophagus: protein:increased expression:esophagus mucosa:
RGD
PMID:24649311 PMID:24805087
RGD:9589143 , RGD:9590071
NCBI chr 3:7,580,680...7,729,046
Ensembl chr 3:7,580,683...7,729,007
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Ehmt2
euchromatic histone lysine methyltransferase 2
disease_progression
ISO
protein:increased expression:esophagus mucosa:
RGD
PMID:24805087
RGD:9590071
NCBI chr20:3,919,623...3,936,751
Ensembl chr20:3,919,624...3,941,547
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Ep300
E1A binding protein p300
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17965222 PMID:25151357
NCBI chr 7:113,108,476...113,178,529
Ensembl chr 7:113,106,247...113,136,088 Ensembl chr 7:113,106,247...113,136,088
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Epb41l3
erythrocyte membrane protein band 4.1-like 3
disease_progression
ISO
DNA:hypermethylation
RGD
PMID:25050929
RGD:151665741
NCBI chr 9:109,056,178...109,260,607
Ensembl chr 9:109,016,113...109,260,607
G
Ephb4
EPH receptor B4
exacerbates
ISO
mRNA,protein:increased expression:esophagus squamous epithelium (human)
RGD
PMID:31885720
RGD:153300949
NCBI chr12:19,326,411...19,351,667
Ensembl chr12:19,326,427...19,351,314
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Erbb4
erb-b2 receptor tyrosine kinase 4
susceptibility disease_progression
ISO
DNA:SNPs, haplotypes: :rs1595066 and rs16845990 (human) protein:altered localization:nucleus
RGD
PMID:24916311 PMID:18000820
RGD:126781764 , RGD:126781765
NCBI chr 9:69,523,733...70,596,743
Ensembl chr 9:69,531,481...70,596,595
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Ercc1
ERCC excision repair 1, endonuclease non-catalytic subunit
treatment
ISO
RGD
PMID:23263828
RGD:11252162
NCBI chr 1:78,971,310...79,007,963
Ensembl chr 1:78,996,390...79,007,963
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Ezh2
enhancer of zeste 2 polycomb repressive complex 2 subunit
disease_progression
ISO
RGD
PMID:25613619 PMID:21165554
RGD:126781697 , RGD:126781701
NCBI chr 4:76,624,399...76,687,362
Ensembl chr 4:76,624,399...76,687,362
G
Fanca
FA complementation group A
ISO
DNA:missense mutation: :p.S858R (human)
RGD
PMID:21279724
RGD:11344913
NCBI chr19:51,304,126...51,362,586
Ensembl chr19:51,304,021...51,362,527
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Fap
fibroblast activation protein, alpha
ISO
protein:increased expression: esophagus
RGD
PMID:24789592
RGD:152600903
NCBI chr 3:47,138,823...47,207,671
Ensembl chr 3:47,138,813...47,225,545
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Fasn
fatty acid synthase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29379198
NCBI chr10:106,072,093...106,090,259
Ensembl chr10:106,072,091...106,090,261
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Fat1
FAT atypical cadherin 1
ISO
CTD Direct Evidence: marker/mechanism protein:decreased expression:esophagus squamous epithelium (human)
CTD RGD
PMID:25151357 PMID:29365412 PMID:24590895
RGD:151347646 , RGD:151347630
NCBI chr16:47,177,253...47,296,261
Ensembl chr16:47,177,248...47,296,107
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Fat2
FAT atypical cadherin 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25151357
NCBI chr10:39,364,072...39,456,324
Ensembl chr10:39,364,073...39,456,216
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Fat3
FAT atypical cadherin 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25151357
NCBI chr 8:12,691,470...13,274,336
Ensembl chr 8:12,694,019...13,273,135
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Fat4
FAT atypical cadherin 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25151357
NCBI chr 2:121,927,266...122,056,700
Ensembl chr 2:121,927,942...122,056,707
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Fbxw7
F-box and WD repeat domain containing 7
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25151357
NCBI chr 2:170,149,706...170,311,536
Ensembl chr 2:170,149,694...170,309,941
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Fes
FES proto-oncogene, tyrosine kinase
exacerbates
ISO
DNA:hypermethylation: (human)
RGD
PMID:24936140
RGD:153323298
NCBI chr 1:134,337,698...134,346,934
Ensembl chr 1:134,337,698...134,346,934
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Fgfr4
fibroblast growth factor receptor 4
treatment
ISO
RGD
PMID:25989802
RGD:150520041
NCBI chr17:9,461,541...9,476,268
Ensembl chr17:9,461,547...9,476,242
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Fkbp1a
FKBP prolyl isomerase 1A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21517111
NCBI chr 3:140,040,359...140,060,107
Ensembl chr 3:140,040,278...140,060,743
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Foxa1
forkhead box A1
onset
ISO
DNA:SNPs: :rs12894364 C>T, rs2145146 C>A (human)
RGD
PMID:27050876 PMID:29788741
RGD:151665743 , RGD:151665759
NCBI chr 6:75,099,907...75,136,534
Ensembl chr 6:75,103,503...75,136,188
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Fubp1
far upstream element binding protein 1
exacerbates
ISO
protein:increased expression:esophagus (human) mRNA:increased expression:esophagus (human)
RGD
PMID:26490982 PMID:32481602
RGD:151361192 , RGD:151361197
NCBI chr 2:241,159,481...241,186,591
Ensembl chr 2:241,159,512...241,186,602
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Gdi2
GDP dissociation inhibitor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21517111
NCBI chr17:66,649,616...66,676,299
Ensembl chr17:66,649,619...66,676,366
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Glo1
glyoxalase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21517111
NCBI chr20:8,663,617...8,681,661
Ensembl chr20:8,662,801...8,681,649
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Gpx3
glutathione peroxidase 3
disease_progression
ISO
DNA:hypermethylation
RGD
PMID:30018730 PMID:25050929
RGD:151665494 , RGD:151665741
NCBI chr10:39,028,624...39,036,695
Ensembl chr10:39,028,570...39,037,035
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Grb7
growth factor receptor bound protein 7
exacerbates
ISO
protein:increased expression:esophagus (human)
RGD
PMID:10797316
RGD:151347654
NCBI chr10:83,443,387...83,453,057
Ensembl chr10:83,444,004...83,453,052
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Gstm1
glutathione S-transferase mu 1
no_association
ISO
RGD
PMID:11860825 PMID:17916905 PMID:25432134
RGD:14700943 , RGD:14700982 , RGD:14700948
NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411
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Gsto1
glutathione S-transferase omega 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21517111
NCBI chr 1:246,721,089...246,731,228
Ensembl chr 1:246,721,221...246,731,468
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Gstp1
glutathione S-transferase pi 1
ISO
DNA:polymorphism: :p.I105V (human)
RGD
PMID:17916905
RGD:14700982
NCBI chr 1:201,337,762...201,340,230
Ensembl chr 1:201,321,672...201,340,226
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Gstt1
glutathione S-transferase theta 1
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:17173682 PMID:25432134 PMID:17916905
RGD:14700948 , RGD:14700982
NCBI chr20:12,856,613...12,873,586
Ensembl chr20:12,856,669...12,873,585
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H19
H19 imprinted maternally expressed transcript
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:32739445
NCBI chr 1:197,730,698...197,733,374
Ensembl chr 1:197,730,698...197,733,134
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Hif1a
hypoxia inducible factor 1 subunit alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17201171
NCBI chr 6:92,624,059...92,669,262
Ensembl chr 6:92,624,390...92,669,261
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Hmgb1
high mobility group box 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21517111
NCBI chr12:5,972,950...5,979,658
Ensembl chr12:5,901,586...5,978,565 Ensembl chr16:5,901,586...5,978,565
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Hmgn5
high mobility group nucleosome binding domain 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28914995
NCBI chr X:74,085,871...74,094,488
Ensembl chr X:74,085,875...74,094,441
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Hoxb7
homeo box B7
severity
ISO
protein:increased expression:esophageal mucosa (human)
RGD
PMID:26076456
RGD:10402177
NCBI chr10:81,252,616...81,256,034
Ensembl chr10:81,252,553...81,256,034
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Hspa5
heat shock protein family A (Hsp70) member 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21517111
NCBI chr 3:18,055,507...18,059,969
Ensembl chr 3:18,055,405...18,059,891
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Htra1
HtrA serine peptidase 1
exacerbates ameliorates
ISO
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 chr 1:185,497,815...185,547,380
Ensembl chr 1:185,497,735...185,547,379
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Idh2
isocitrate dehydrogenase (NADP(+)) 2
severity
ISO
human cells in mouse model
RGD
PMID:32367071
RGD:149735568
NCBI chr 1:134,038,644...134,057,969
Ensembl chr 1:134,029,772...134,058,025
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Jak2
Janus kinase 2
severity
ISO
protein:increased phosphorylation:esophagus squamous epithelium (human)
RGD
PMID:32158193
RGD:127285669
NCBI chr 1:226,995,334...227,054,381
Ensembl chr 1:226,995,334...227,054,189
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Junb
JunB proto-oncogene, AP-1 transcription factor subunit
exacerbates
ISO
protein:increased expression:esophagus (human)
RGD
PMID:30227324 PMID:19758438
RGD:151347669 , RGD:151347672
NCBI chr19:23,176,265...23,178,049
Ensembl chr19:23,176,294...23,178,035
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Kat2b
lysine acetyltransferase 2B
ISO
mRNA:decreased expression:esophagus (human)
RGD
PMID:19525977
RGD:9590307
NCBI chr 9:6,562,525...6,667,064
Ensembl chr 9:6,562,288...6,667,064
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Kdm4c
lysine demethylase 4C
severity susceptibility
ISO
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 5:88,100,710...88,306,821
Ensembl chr 5:88,100,733...88,306,818
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Kdm5b
lysine demethylase 5B
severity
ISO
protein:increased expression:esophageal mucosa, cytoplasm (human)
RGD
PMID:22534467
RGD:9587776
NCBI chr13:46,001,589...46,073,868
Ensembl chr13:46,002,542...46,073,872
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Kdm6a
lysine demethylase 6A
ameliorates
ISO
CTD Direct Evidence: marker/mechanism mRNA:increased expression:esophagus (human) protein:increased expression:esophagus (human)
CTD RGD
PMID:25151357 PMID:31804468 PMID:29351209
RGD:150429742 , RGD:150429739
NCBI chr X:4,337,466...4,477,100
Ensembl chr X:4,337,750...4,477,062
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Kmt2c
lysine methyltransferase 2C
ISO
DNA:mutations:multiple (human) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:25151357 PMID:25151357
RGD:9588233
NCBI chr 4:9,620,638...9,834,787
Ensembl chr 4:9,609,627...9,833,539
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Kmt2d
lysine methyltransferase 2D
ISO
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 chr 7:129,980,744...130,022,088
Ensembl chr 7:129,962,887...130,020,325
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Krt13
keratin 13
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21517111
NCBI chr10:85,051,887...85,056,099
Ensembl chr10:85,051,889...85,056,084
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Krt14
keratin 14
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16543248
NCBI chr10:85,137,786...85,142,054
Ensembl chr10:85,066,802...85,171,799
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Krt16
keratin 16
IEP
RGD
PMID:8950218
RGD:633113
NCBI chr10:85,168,357...85,171,816
Ensembl chr10:85,066,802...85,171,799
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Krt17
keratin 17
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21517111
NCBI chr10:85,178,673...85,183,392
Ensembl chr10:85,178,675...85,183,392
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Krt19
keratin 19
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21517111
NCBI chr10:85,075,835...85,080,552
Ensembl chr10:85,066,802...85,171,799
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Krt7
keratin 7
disease_progression
ISO
RGD
PMID:29788741
RGD:151665759
NCBI chr 7:132,528,881...132,545,052
Ensembl chr 7:132,528,895...132,545,052
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Loxl2
lysyl oxidase-like 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24716982
NCBI chr15:44,683,449...44,773,067
Ensembl chr15:44,683,880...44,773,067
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Lta
lymphotoxin alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29379198
NCBI chr20:3,618,853...3,621,324
Ensembl chr20:3,618,853...3,620,859
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Lzts1
leucine zipper tumor suppressor 1
ISO
ClinVar Annotator: match by term: Esophageal squamous cell carcinoma, somatic | ClinVar Annotator: match by term: LZTS1-related condition
OMIM ClinVar
PMID:10097140 PMID:25741868 PMID:26504261 PMID:28492532
NCBI chr16:20,542,756...20,598,204
Ensembl chr16:20,542,809...20,598,203
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Mad2l1
mitotic arrest deficient 2 like 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18691855
NCBI chr 4:95,906,692...95,918,885
Ensembl chr 4:95,906,817...95,913,470
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Map3k1
mitogen-activated protein kinase kinase kinase 1
sexual_dimorphism
ISO
DNA:missense mutation, SNP:CDS, exon 14, 3'-UTR: (rs702689,rs702688) (human)
RGD
PMID:32753933
RGD:150573717
NCBI chr 2:43,348,572...43,414,706
Ensembl chr 2:43,350,098...43,414,463
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Mbd4
methyl-CpG binding domain 4 DNA glycosylase
susceptibility
ISO
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 4:148,893,049...148,904,833
Ensembl chr 4:148,894,280...148,904,982
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Mgmt
O-6-methylguanine-DNA methyltransferase
disease_progression
ISO
CTD Direct Evidence: marker/mechanism DNA, protein:hypermethylation, decreased expression:promoter, esophagus
CTD RGD
PMID:25520135 PMID:21674174
RGD:126790574
NCBI chr 1:191,710,980...191,937,760
Ensembl chr 1:191,710,930...191,937,756
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Mir10a
microRNA 10a
ISO
miRNA:increased expression:esophagus squamous epithelium (human)
RGD
PMID:32997362
RGD:153323343
NCBI chr10:81,283,171...81,283,280
Ensembl chr10:81,283,171...81,283,280
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Mir127
microRNA 127
ISO
RNA:decreased expression:esophagus (human)
RGD
PMID:27645894
RGD:152995354
NCBI chr 6:128,546,215...128,546,311
Ensembl chr 6:128,546,215...128,546,311
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Mir193a
microRNA 193a
exacerbates
ISO
miRNA:decreased expression:esophagus (human)
RGD
PMID:27203740
RGD:153323341
NCBI chr10:64,672,343...64,672,454
Ensembl chr10:64,672,343...64,672,454
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Mir217
microRNA 217
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25538231
NCBI chr14:102,531,505...102,531,609
Ensembl chr14:102,531,505...102,531,609
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Mir31
microRNA 31
ameliorates
IMP ISO
RGD
PMID:32123074 PMID:21658006
RGD:127285381 , RGD:152998938
NCBI chr 5:103,599,038...103,599,143
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Mir423
microRNA 423
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24205249
NCBI chr10:61,914,142...61,914,220
Ensembl chr10:61,914,133...61,914,226
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Mir494
microRNA 494
ISO
mRNA:decreased expression:esophagus
RGD
PMID:25480402
RGD:150530497
NCBI chr 6:128,728,710...128,728,792
Ensembl chr 6:128,728,709...128,728,793
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Mlh1
mutL homolog 1
disease_progression
ISO
DNA, protein:hypermethylation, decreased expression:promoter, esophagus
RGD
PMID:21674174
RGD:126790574
NCBI chr 8:111,196,468...111,233,721
Ensembl chr 8:111,196,468...111,233,617
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Mmp14
matrix metallopeptidase 14
ISO
protein:increased expression: esophagus
RGD
PMID:24789592
RGD:152600903
NCBI chr15:27,887,795...27,897,020
Ensembl chr15:27,887,727...27,899,864
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Mmp2
matrix metallopeptidase 2
ISO
protein:increased activity: esophagus
RGD
PMID:24789592
RGD:152600903
NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870
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Mmp9
matrix metallopeptidase 9
ISO
protein:increased activity: esophagus
RGD
PMID:24789592
RGD:152600903
NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
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Msh2
mutS homolog 2
disease_progression
ISO
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 6:6,813,793...6,872,960
Ensembl chr 6:6,813,795...6,872,938
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Nfe2l2
NFE2 like bZIP transcription factor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25151357
NCBI chr 3:60,594,239...60,621,712
Ensembl chr 3:60,594,242...60,621,737
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Notch1
notch receptor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25151357
NCBI chr 3:9,277,955...9,323,531
Ensembl chr 3:9,278,086...9,323,531
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Notch2
notch receptor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25151357
NCBI chr 2:185,610,594...185,744,088
Ensembl chr 2:185,610,589...185,744,088
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Notch3
notch receptor 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25151357
NCBI chr 7:11,132,984...11,184,025
Ensembl chr 7:11,133,706...11,184,025
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Pagr1
Paxip1-associated glutamate-rich protein 1
ISO
mRNA, protein:decreased expression:esophagus (human)
RGD
PMID:33833989
RGD:153344568
NCBI chr 1:181,622,698...181,625,024
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Pbx3
PBX homeobox 3
ISO
RNA:increased expression:esophagus squamous epithelium (human)
RGD
PMID:32449803
RGD:153345544
NCBI chr 3:17,488,691...17,682,412
Ensembl chr 3:17,488,693...17,682,791
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Pfn1
profilin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21517111
NCBI chr10:55,365,263...55,367,968
Ensembl chr10:55,365,262...55,527,631
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Plce1
phospholipase C, epsilon 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20729852 PMID:20729853
NCBI chr 1:236,243,445...236,552,571
Ensembl chr 1:236,244,683...236,551,438
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Prdx1
peroxiredoxin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21517111
NCBI chr 5:130,147,258...130,162,856
Ensembl chr 5:130,147,204...130,162,856
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Psmb9
proteasome 20S subunit beta 9
disease_progression
ISO
RGD
PMID:19492245
RGD:6482249
NCBI chr20:4,667,044...4,672,512
Ensembl chr20:4,666,046...4,672,512
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Psme1
proteasome activator subunit 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21517111
NCBI chr15:29,069,012...29,071,888
Ensembl chr15:29,068,729...29,071,890
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Psme2
proteasome activator subunit 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21517111
NCBI chr15:29,078,495...29,082,794
Ensembl chr15:29,078,500...29,082,946
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Ptch1
patched 1
disease_progression
ISO
RGD
PMID:16475698
RGD:150523841
NCBI chr17:1,542,705...1,607,730
Ensembl chr17:1,542,877...1,607,333
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Ptgs2
prostaglandin-endoperoxide synthase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15756444 PMID:16543248 PMID:18197933
NCBI chr13:62,163,936...62,172,193
Ensembl chr13:62,163,932...62,172,188
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Ptprt
protein tyrosine phosphatase, receptor type, T
susceptibility
ISO
DNA:SNPs:3'utr: (rs2866943 , rs6029959 ) (human)
RGD
PMID:25967969
RGD:150520191
NCBI chr 3:150,189,343...151,288,145
Ensembl chr 3:150,194,859...151,288,124
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Rb1
RB transcriptional corepressor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25151357
NCBI chr15:48,371,295...48,502,473
Ensembl chr15:48,371,296...48,502,302
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Rictor
RPTOR independent companion of MTOR, complex 2
disease_progression severity
ISO
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 2:55,811,877...55,903,893
Ensembl chr 2:55,811,322...55,901,426
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Rnf6
ring finger protein 6
ISO
ClinVar Annotator: match by term: Esophageal squamous cell carcinoma, somatic
ClinVar OMIM
PMID:12154016
NCBI chr12:8,816,797...8,826,870
Ensembl chr12:8,816,833...8,826,847
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Runx1
RUNX family transcription factor 1
ISO
DNA:SNP: :rs2014300 (human)
RGD
PMID:30666517
RGD:126775149
NCBI chr11:31,839,880...32,074,427
Ensembl chr11:31,843,764...32,074,542
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Runx2
RUNX family transcription factor 2
ISO
mRNA:increased expression:esophagus mucosa
RGD
PMID:18500170
RGD:126779568
NCBI chr 9:16,167,504...16,492,826
Ensembl chr 9:16,167,482...16,492,167
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Runx3
RUNX family transcription factor 3
disease_progression
ISO
mRNA:decreased expression:esophagus mucosa
RGD
PMID:18500170
RGD:126779568
NCBI chr 5:147,360,587...147,419,161
Ensembl chr 5:147,360,994...147,419,156
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Sall4
spalt-like transcription factor 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30431698
NCBI chr 3:157,474,067...157,491,055
Ensembl chr 3:157,474,642...157,490,822
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Serpinb3
serpin family B member 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21517111
NCBI chr13:23,274,120...23,280,660
Ensembl chr13:23,274,484...23,313,682
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Setd5
SET domain containing 5
disease_progression
ISO
RGD
PMID:31981592
RGD:155804254
NCBI chr 4:146,217,172...146,294,896
Ensembl chr 4:146,217,180...146,294,894
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Sfn
stratifin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21517111
NCBI chr 5:145,826,722...145,827,994
Ensembl chr 5:145,826,201...145,831,314
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Slc16a10
solute carrier family 16 member 10
ISO
protein:increased expression:esophagus
RGD
PMID:33609949
RGD:151361149
NCBI chr20:43,454,819...43,567,839
Ensembl chr20:43,459,709...43,567,839
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Slc1a5
solute carrier family 1 member 5
disease_progression
ISO
protein:increased expression:esophagus
RGD
PMID:33609949 PMID:26936531
RGD:151361149 , RGD:11532833
NCBI chr 1:77,456,849...77,470,952
Ensembl chr 1:77,456,694...77,470,952
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Slc39a6
solute carrier family 39 member 6
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:23644492
NCBI chr18:15,864,874...15,885,417
Ensembl chr18:15,864,875...15,885,417
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Slc52a3
solute carrier family 52 member 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20729853
NCBI chr 3:140,498,924...140,515,845
Ensembl chr 3:140,509,473...140,514,096
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Slc7a5
solute carrier family 7 member 5
disease_progression
ISO
protein:increased expression:esophagus
RGD
PMID:31726270 PMID:26936531 PMID:33609949
RGD:151361144 , RGD:11532833 , RGD:151361149
NCBI chr19:49,935,220...49,963,823
Ensembl chr19:49,935,220...49,963,823
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Socs1
suppressor of cytokine signaling 1
severity treatment
ISO
mRNA:decreased expression:esophagus
RGD
PMID:21385099 PMID:31728180 PMID:28233302
RGD:150573691 , RGD:150573815 , RGD:150573812
NCBI chr10:4,882,651...4,884,342
Ensembl chr10:4,882,560...4,884,383
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Sod2
superoxide dismutase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18167182 PMID:21517111
NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189
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Sox2
SRY-box transcription factor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19801978
NCBI chr 2:117,536,929...117,539,340
Ensembl chr 2:117,536,929...117,539,338
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Spen
spen family transcriptional repressor
ISO
associated with Neoplasm Metastasis; DNA:mutations
RGD
PMID:33363385
RGD:151347445
NCBI chr 5:153,775,287...153,848,677
Ensembl chr 5:153,776,234...153,848,811
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Stim1
stromal interaction molecule 1
exacerbates
ISO
protein:increased expression:esophagus (human)
RGD
PMID:31843504
RGD:152995393
NCBI chr 1:156,656,246...156,818,777
Ensembl chr 1:156,656,013...156,818,363
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Sting1
stimulator of interferon response cGAMP interactor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25129146
NCBI chr18:27,332,119...27,338,371
Ensembl chr18:27,332,119...27,338,335
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Sult1a1
sulfotransferase family 1A member 1
ISO
DNA:SNP:exon:p.R213H, 638G>A (human)
RGD
PMID:12455060
RGD:1581448
NCBI chr 1:181,272,022...181,276,750
Ensembl chr 1:181,272,023...181,275,562
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Tagln
transgelin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21517111
NCBI chr 8:46,224,939...46,230,413
Ensembl chr 8:46,222,472...46,230,668
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Tap1
transporter 1, ATP binding cassette subfamily B member
ISO
protein:decreased expression:esophagus
RGD
PMID:19492245
RGD:6482249
NCBI chr20:4,656,262...4,666,634
Ensembl chr20:4,656,263...4,666,901
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Tap2
transporter 2, ATP binding cassette subfamily B member
ISO
protein:decreased expression:esophagus
RGD
PMID:19492245
RGD:6482249
NCBI chr20:4,636,347...4,650,387
Ensembl chr20:4,636,357...4,650,407
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Tcn2
transcobalamin 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29379198
NCBI chr14:78,813,343...78,828,549
Ensembl chr14:78,813,343...78,828,489
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Tert
telomerase reverse transcriptase
susceptibility no_association
ISO
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 1:29,637,213...29,659,561
Ensembl chr 1:29,637,506...29,659,561
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Tet2
tet methylcytosine dioxygenase 2
severity
ISO
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 2:221,988,645...222,072,813
Ensembl chr 2:221,988,645...222,072,534
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Tet3
tet methylcytosine dioxygenase 3
ISO
mRNA:decreased expression:esophagus squamous epithelium (human)
RGD
PMID:27050164
RGD:150429668
NCBI chr 4:115,867,412...115,964,433
Ensembl chr 4:115,871,265...115,964,193
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Tgfbr2
transforming growth factor, beta receptor 2
ISO
OMIM
NCBI chr 8:115,794,537...115,883,615
Ensembl chr 8:115,794,537...115,883,228
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Tnfaip3
TNF alpha induced protein 3
severity
ISO
mRNA,protein:increased expression:esophagus squamous epithelium (human)
RGD
PMID:28197630
RGD:151347617
NCBI chr 1:13,709,211...13,724,291
Ensembl chr 1:13,709,206...13,725,282
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Tnfaip8
TNF alpha induced protein 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21969086
NCBI chr18:43,183,854...43,299,512
Ensembl chr18:43,183,916...43,299,517
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Tnxb
tenascin XB
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29379198
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Tp53
tumor protein p53
ISO
DNA:misssense mutation: :p.R72P (rs1042522) (human) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:16543248 PMID:25151357 PMID:28789369
RGD:14995932
NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
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Tpi1
triosephosphate isomerase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21517111
NCBI chr 4:157,615,283...157,618,813
Ensembl chr 4:157,615,386...157,619,541
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Tpm1
tropomyosin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21517111
NCBI chr 8:67,635,479...67,662,330
Ensembl chr 8:67,635,479...67,662,802
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Tpm2
tropomyosin 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21517111
NCBI chr 5:57,770,919...57,780,278
Ensembl chr 5:57,770,864...57,779,992
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Txndc17
thioredoxin domain containing 17
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21517111
NCBI chr10:56,832,749...56,835,721
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Tymp
thymidine phosphorylase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11641616
NCBI chr 7:120,438,768...120,444,088
Ensembl chr 7:120,438,770...120,443,874 Ensembl chr 7:120,438,770...120,443,874
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Usp8
ubiquitin specific peptidase 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:35022897
NCBI chr 3:113,962,136...114,009,683
Ensembl chr 3:113,962,164...114,009,666
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Uty
ubiquitously transcribed tetratricopeptide repeat containing, Y-linked
ISO
DNA:mutations:multiple (human)
RGD
PMID:25151357
RGD:9588233
NCBI chr Y:942,838...1,105,313
Ensembl chr Y:924,168...1,103,422
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Ventx
VENT homeobox
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30431698
NCBI chr X:86,483,893...86,484,900
Ensembl chr X:86,483,893...86,484,954
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Wrap53
WD repeat containing, antisense to TP53
disease_progression
ISO
RGD
PMID:24626331
RGD:21081532
NCBI chr10:54,282,092...54,299,908
Ensembl chr10:54,282,105...54,298,929
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Wwox
WW domain-containing oxidoreductase
ISO
esophageal squamous cell carcinoma, OMIM:133239 ClinVar Annotator: match by term: Esophageal squamous cell carcinoma, somatic CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD RGD
PMID:11956080 PMID:25526675 PMID:28492532 PMID:11956080
RGD:1599874
NCBI chr19:42,432,141...43,360,278
Ensembl chr19:42,432,152...43,359,391
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Xpo1
exportin 1
exacerbates
ISO
mRNA, protein:increased expression:epithelium of esophagus (human) protein:increased expression:esophagus (human)
RGD
PMID:24898882 PMID:25148895
RGD:151667431 , RGD:151667436
NCBI chr14:97,233,282...97,275,536
Ensembl chr14:97,233,270...97,275,498
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Xrcc1
X-ray repair cross complementing 1
no_association susceptibility treatment
ISO
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 chr 1:80,140,495...80,168,705
Ensembl chr 1:80,141,207...80,168,701
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Zcchc12
zinc finger CCHC-type containing 12
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30431698
NCBI chr X:115,433,444...115,436,691
Ensembl chr X:115,433,259...115,436,692
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Tgfbr1
transforming growth factor, beta receptor 1
susceptibility
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Ferguson-Smith type epithelioma | ClinVar Annotator: match by term: Multiple self-healing squamous epithelioma
CTD OMIM ClinVar
PMID:2511639 PMID:2647812 PMID:5173258 PMID:8499949 PMID:16596670 PMID:16791849 PMID:16928994 PMID:18781618 PMID:19542084 PMID:21267002 PMID:21358634 PMID:22414221 PMID:23884466 PMID:24033266 PMID:24055113 PMID:24793577 PMID:25110237 PMID:25116393 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:27879313 PMID:28209770 PMID:28492532 PMID:28550590 PMID:28655553 PMID:29706644 PMID:29907982 PMID:31915033 PMID:33256177 PMID:33824467 More...
NCBI chr 5:61,653,773...61,710,777
Ensembl chr 5:61,653,233...61,710,777
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Wrap53
WD repeat containing, antisense to TP53
disease_progression
ISO
RGD
PMID:28849066
RGD:21081521
NCBI chr10:54,282,092...54,299,908
Ensembl chr10:54,282,105...54,298,929
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Abcb1a
ATP binding cassette subfamily B member 1A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25275603
NCBI chr 4:25,357,467...25,529,941
Ensembl chr 4:25,158,362...25,442,709
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Abcc1
ATP binding cassette subfamily C member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25275603
NCBI chr10:528,961...655,179
Ensembl chr10:531,812...655,114
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Abcc2
ATP binding cassette subfamily C member 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25275603
NCBI chr 1:242,664,657...242,723,239
Ensembl chr 1:242,664,657...242,723,238
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Abcg2
ATP binding cassette subfamily G member 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25275603
NCBI chr 4:87,676,241...87,802,757
Ensembl chr 4:87,745,319...87,802,409
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Abl1
ABL proto-oncogene 1, non-receptor tyrosine kinase
ISO
ClinVar Annotator: match by term: Lip and oral cavity carcinoma
ClinVar
PMID:11569495 PMID:11853795 PMID:12399961 PMID:12623848 PMID:14745431 PMID:19164531 PMID:19264234 PMID:19811824 PMID:21489624 PMID:23676790 PMID:24236021 PMID:25157968 PMID:31775759 More...
NCBI chr 3:14,979,853...15,083,065
Ensembl chr 3:14,979,853...15,083,065
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Akt1
AKT serine/threonine kinase 1
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Head and neck squamous cell carcinoma
CTD ClinVar
PMID:17611497 PMID:18256540 PMID:18392055 PMID:18504432 PMID:18611285 PMID:18954143 PMID:19418217 PMID:19487299 PMID:19853286 PMID:20233444 PMID:20453058 PMID:21464312 PMID:21512767 PMID:21793738 PMID:22538770 PMID:22610119 PMID:22722201 PMID:22722839 PMID:22980975 PMID:23237847 PMID:23348505 PMID:23700467 PMID:23728071 PMID:23873848 PMID:23934607 PMID:24190505 PMID:24657128 PMID:25157968 PMID:25741868 PMID:26619011 PMID:28492532 More...
NCBI chr 6:131,713,716...131,735,319
Ensembl chr 6:131,713,720...131,733,921
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Ankrd17
ankyrin repeat domain 17
ISO
ClinVar Annotator: match by term: Lip and oral cavity carcinoma
ClinVar
PMID:28580594
NCBI chr14:17,723,239...17,861,841
Ensembl chr14:17,721,932...17,862,617
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Atp7b
ATPase copper transporting beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12509969
NCBI chr16:69,952,286...70,024,404
Ensembl chr16:69,951,778...70,023,636
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B2m
beta-2 microglobulin
ISO
ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck
ClinVar
PMID:26619011
NCBI chr 3:109,095,740...109,101,764
Ensembl chr 3:109,095,729...109,101,766
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Birc2
baculoviral IAP repeat-containing 2
exacerbates
ISO
mRNA:increased expression:head or neck skin (human)
RGD
PMID:31964418
RGD:153344516
NCBI chr 8:4,968,856...4,989,325
Ensembl chr 8:4,968,842...4,988,732
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Birc3
baculoviral IAP repeat-containing 3
ameliorates
ISO
mRNA:increased expression:head or neck skin (human)
RGD
PMID:31964418
RGD:153344516
NCBI chr 8:5,000,844...5,028,470
Ensembl chr 8:5,000,845...5,015,802
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Braf
B-Raf proto-oncogene, serine/threonine kinase
ISO
ClinVar Annotator: match by term: Lip and oral cavity carcinoma | ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck
ClinVar
PMID:12068308 PMID:12198537 PMID:12447372 PMID:12460918 PMID:12460919 PMID:12619120 PMID:12644542 PMID:12670889 PMID:12794760 PMID:12960123 PMID:14513361 PMID:14602780 PMID:14612909 PMID:14679157 PMID:14688025 PMID:15001635 PMID:15035987 PMID:15126572 PMID:15181070 PMID:15342696 PMID:15356022 PMID:15386408 PMID:15687339 PMID:15998781 PMID:16015629 PMID:16174717 PMID:16187918 PMID:16772349 PMID:17096326 PMID:17119447 PMID:17311103 PMID:17374713 PMID:17488796 PMID:17785355 PMID:18186519 PMID:18368129 PMID:18398503 PMID:18794803 PMID:19001320 PMID:19010912 PMID:19018267 PMID:19238210 PMID:19383316 PMID:19404918 PMID:19537845 PMID:19561230 PMID:19571295 PMID:19913317 PMID:20350999 PMID:20413299 PMID:20619739 PMID:20630094 PMID:20818844 PMID:20823850 PMID:20857202 PMID:21062266 PMID:21107320 PMID:21107323 PMID:21129611 PMID:21156289 PMID:21163703 PMID:21426297 PMID:21483012 PMID:21639808 PMID:21683865 PMID:21975775 PMID:22038996 PMID:22039425 PMID:22048237 PMID:22113612 PMID:22180495 PMID:22281684 PMID:22310681 PMID:22351686 PMID:22356324 PMID:22389471 PMID:22448344 PMID:22536370 PMID:22586120 PMID:22608338 PMID:22649091 PMID:22663011 PMID:22735384 PMID:22743296 PMID:22773810 PMID:22805292 PMID:22972589 PMID:22997239 PMID:23020132 PMID:23031422 PMID:23251002 PMID:23273605 PMID:23302800 PMID:23325582 PMID:23352452 PMID:23470635 PMID:23524406 PMID:23549875 PMID:23614898 PMID:23685455 PMID:23812671 PMID:23833300 PMID:23845441 PMID:23918947 PMID:24033266 PMID:24107445 PMID:24163374 PMID:24388723 PMID:24508103 PMID:24512911 PMID:24576830 PMID:24583796 PMID:24586605 PMID:24594804 PMID:24670642 PMID:24717435 PMID:25024077 PMID:25079330 PMID:25157968 PMID:25370471 PMID:25741868 PMID:25950823 PMID:25989278 PMID:26619011 PMID:26678033 PMID:28492532 PMID:28854169 PMID:29595366 PMID:29925953 PMID:31336229 PMID:31775759 PMID:31891627 PMID:34476331 More...
NCBI chr 4:68,375,484...68,510,652
Ensembl chr 4:68,384,649...68,510,463
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Casp8
caspase 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23358896
NCBI chr 9:60,263,863...60,312,542
Ensembl chr 9:60,264,075...60,312,542
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Ccdc3
coiled-coil domain containing 3
ISO
ClinVar Annotator: match by term: Lip and oral cavity carcinoma
ClinVar
PMID:26614431
NCBI chr17:73,031,891...73,135,173
Ensembl chr17:73,035,045...73,135,337
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Ccna1
cyclin A1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23358896 PMID:29464035
NCBI chr 2:139,231,738...139,278,066
Ensembl chr 2:139,201,074...139,243,157
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Ccna2
cyclin A2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29464035
NCBI chr 2:119,427,239...119,433,645
Ensembl chr 2:119,426,089...119,433,577
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Ccnb1
cyclin B1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29464035
NCBI chr 2:31,912,190...31,921,163
Ensembl chr 2:31,912,193...31,921,172
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Ccnd1
cyclin D1
disease_progression
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:26909611 PMID:29464035 PMID:9796972
RGD:13434911
NCBI chr 1:200,089,002...200,098,524
Ensembl chr 1:200,089,002...200,098,602
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Ccne1
cyclin E1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29464035
NCBI chr 1:90,781,947...90,791,188
Ensembl chr 1:90,781,949...90,791,101
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Ccne2
cyclin E2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29464035
NCBI chr 5:24,285,078...24,298,258
Ensembl chr 5:24,284,922...24,297,632
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Cdc73
cell division cycle 73
exacerbates
ISO
protein:increased expression:squamous epithelium (human)
RGD
PMID:26124004
RGD:11065919
NCBI chr13:55,357,226...55,449,690
Ensembl chr13:55,357,226...55,449,656
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Cdk2
cyclin dependent kinase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29464035
NCBI chr 7:1,129,878...1,137,431
Ensembl chr 7:1,129,811...1,137,403
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Cdk4
cyclin-dependent kinase 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29464035
NCBI chr 7:62,886,124...62,889,562
Ensembl chr 7:62,883,105...62,942,403
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Cdk6
cyclin-dependent kinase 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29464035
NCBI chr 4:30,637,650...30,829,688
Ensembl chr 4:30,646,460...30,829,634
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Cdkn2a
cyclin-dependent kinase inhibitor 2A
disease_progression
ISO
DNA:SNPs: :rs3731217, rs3088440 (human) 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 CTD Direct Evidence: marker/mechanism
ClinVar CTD RGD
PMID:7718873 PMID:7777061 PMID:7780957 PMID:8153634 PMID:8521414 PMID:8573142 PMID:8595405 PMID:8668202 PMID:8723678 PMID:8755727 PMID:8834170 PMID:9166859 PMID:9324288 PMID:9536098 PMID:9660926 PMID:9710613 PMID:9751050 PMID:9823374 PMID:9856841 PMID:10491434 PMID:11078762 PMID:11358797 PMID:11477665 PMID:11500805 PMID:11687599 PMID:12072543 PMID:14508519 PMID:15140233 PMID:15146471 PMID:16234564 PMID:16374456 PMID:16818274 PMID:16896043 PMID:16905682 PMID:17576681 PMID:17992122 PMID:18205010 PMID:18519632 PMID:18573309 PMID:20505745 PMID:21462282 PMID:21507037 PMID:21609436 PMID:21801156 PMID:24336570 PMID:24991542 PMID:25157968 PMID:25356972 PMID:25741868 PMID:26192916 PMID:26619011 PMID:26681309 PMID:26775776 PMID:26909611 PMID:27756164 PMID:27960642 PMID:28146043 PMID:28492532 PMID:28765326 PMID:28830827 PMID:29464027 PMID:29915805 PMID:29983899 PMID:30291219 PMID:30742731 PMID:31382929 PMID:31775759 PMID:32455486 PMID:35001868 PMID:21381012 More...
RGD:8552291
NCBI chr 5:103,984,949...103,992,143
Ensembl chr 5:103,984,949...104,003,149
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Chd4
chromodomain helicase DNA binding protein 4
ISO
mRNA:increased expression:head or neck skin (human)
RGD
PMID:28486105
RGD:153323299
NCBI chr 4:157,898,503...157,931,632
Ensembl chr 4:157,899,391...157,931,541
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Cldn1
claudin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:33665778
NCBI chr11:74,421,569...74,436,728
Ensembl chr11:74,421,569...74,436,724
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Cntn4
contactin 4
ISO
ClinVar Annotator: match by term: Lip and oral cavity carcinoma
ClinVar
PMID:28595731
NCBI chr 4:138,624,584...139,622,499
Ensembl chr 4:139,099,152...139,621,090
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Crebbp
CREB binding protein
ISO
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:26087898 PMID:26619011 PMID:27257180 PMID:28492532 PMID:28970362 PMID:29551561 PMID:33560380 More...
NCBI chr10:11,335,551...11,461,888
Ensembl chr10:11,335,953...11,461,888
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Ctnnb1
catenin beta 1
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck
CTD ClinVar
PMID:9927029 PMID:10192393 PMID:23265383 PMID:25157968 PMID:26619011 PMID:26822237 PMID:34019859 More...
NCBI chr 8:120,640,008...120,667,110
Ensembl chr 8:120,639,995...120,667,111
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Cyp2c11
cytochrome P450, subfamily 2, polypeptide 11
treatment
ISO
DNA:polymorphisms: :CYP2C9*2(human)
RGD
PMID:19954746
RGD:401901267
NCBI chr 1:236,762,719...236,799,069
Ensembl chr 1:236,762,842...236,799,066
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Cyp2c6
cytochrome P450, family 2, subfamily C, polypeptide 6
treatment
ISO
DNA:polymorphisms: :CYP2C19*2(human)
RGD
PMID:19954746
RGD:401901267
NCBI chr 1:237,938,521...237,976,238
Ensembl chr 1:237,693,094...238,057,596
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Cyp2d4
cytochrome P450, family 2, subfamily d, polypeptide 4
treatment
ISO
DNA:polymorphisms: :CYP2D6*4,CYP2D6*10(human)
RGD
PMID:19954746
RGD:401901267
NCBI chr 7:113,882,584...113,891,754
Ensembl chr 7:113,881,618...113,891,759
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Ddr2
discoidin domain receptor tyrosine kinase 2
severity
ISO
RGD
PMID:24556606
RGD:150429746
NCBI chr13:82,193,623...82,318,229
Ensembl chr13:82,195,463...82,317,363
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Dnmt3b
DNA methyltransferase 3 beta
susceptibility
ISO
DNA:SNP,haplotype:promoter:-149C>T,-579G>T(human)
RGD
PMID:18455294
RGD:9589078
NCBI chr 3:142,130,588...142,169,128
Ensembl chr 3:142,130,592...142,169,124
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Dpyd
dihydropyrimidine dehydrogenase
ISO
ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck
ClinVar
NCBI chr 2:206,609,043...207,474,982
Ensembl chr 2:206,609,122...207,474,982
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Egfr
epidermal growth factor receptor
ISO
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
PMID:15118073 PMID:15118125 PMID:15788655 PMID:17177598 PMID:20415598 PMID:21531084 PMID:23242437 PMID:23358982 PMID:24712396 PMID:25157968 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 More...
NCBI chr14:91,176,979...91,349,722
Ensembl chr14:91,177,067...91,344,382
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Ep300
E1A binding protein p300
ISO
ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck
ClinVar
PMID:26619011
NCBI chr 7:113,108,476...113,178,529
Ensembl chr 7:113,106,247...113,136,088 Ensembl chr 7:113,106,247...113,136,088
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Erbb2
erb-b2 receptor tyrosine kinase 2
disease_progression
ISO
ClinVar Annotator: match by term: Head and neck squamous cell carcinoma
ClinVar RGD
PMID:22908275 PMID:26619011 PMID:20604875
RGD:126790467
NCBI chr10:83,411,197...83,435,078
Ensembl chr10:83,411,313...83,435,078
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Erbb4
erb-b2 receptor tyrosine kinase 4
severity
ISO
RGD
PMID:20604875
RGD:126790467
NCBI chr 9:69,523,733...70,596,743
Ensembl chr 9:69,531,481...70,596,595
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Fancb
FA complementation group B
ISO
DNA:hypermethylation:promoter
RGD
PMID:20332657
RGD:11344903
NCBI chr X:29,403,771...29,420,484
Ensembl chr X:29,403,771...29,420,192
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Fancd2
FA complementation group D2
ISO
RGD
PMID:20935219
RGD:11344907
NCBI chr 4:146,679,014...146,743,422
Ensembl chr 4:146,679,179...146,743,412
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Fbxw7
F-box and WD repeat domain containing 7
ISO
ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck
ClinVar
PMID:25741868 PMID:26619011
NCBI chr 2:170,149,706...170,311,536
Ensembl chr 2:170,149,694...170,309,941
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Fgfr3
fibroblast growth factor receptor 3
ISO
ClinVar Annotator: match by term: Head and neck squamous cell carcinoma
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:16841094 PMID:17384684 PMID:18642369 PMID:19381019 PMID:19749790 PMID:20301540 PMID:20420824 PMID:22045636 PMID:25157968 PMID:25606676 PMID:25614871 PMID:25741868 PMID:25741914 PMID:26619011 PMID:28492532 PMID:29593476 PMID:31299979 More...
NCBI chr14:76,987,242...77,002,671
Ensembl chr14:76,987,993...77,003,341
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Fgfr4
fibroblast growth factor receptor 4
severity
ISO
DNA:SNP:exon 9: p.G388R (human)
RGD
PMID:17084840
RGD:150520023
NCBI chr17:9,461,541...9,476,268
Ensembl chr17:9,461,547...9,476,242
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Fhit
fragile histidine triad diadenosine triphosphatase
ISO
ClinVar Annotator: match by term: Lip and oral cavity carcinoma
ClinVar
PMID:28580594
NCBI chr15:13,935,029...15,442,620
Ensembl chr15:13,934,995...15,442,340
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Gnas
GNAS complex locus
ISO
ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck
ClinVar
PMID:1517386 PMID:1594625 PMID:1944469 PMID:2549426 PMID:3720010 PMID:7739708 PMID:8766942 PMID:9626141 PMID:11093740 PMID:12727968 PMID:12970318 PMID:15126527 PMID:15952988 PMID:16507630 PMID:16543670 PMID:17873334 PMID:20197676 PMID:21835143 PMID:23403822 PMID:23536913 PMID:23843956 PMID:24855271 PMID:25157968 PMID:25719192 PMID:25741868 PMID:26619011 PMID:27398169 PMID:27506760 PMID:28492532 PMID:30702195 More...
NCBI chr 3:163,071,003...163,136,350
Ensembl chr 3:163,071,417...163,127,262 Ensembl chr 3:163,071,417...163,127,262
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Grik2
glutamate ionotropic receptor kainate type subunit 2
ISO
ClinVar Annotator: match by term: Lip and oral cavity carcinoma
ClinVar
PMID:26614431
NCBI chr20:52,135,325...52,833,061
Ensembl chr20:52,133,851...52,838,375
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Hoxa5
homeo box A5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22227861
NCBI chr 4:81,302,341...81,306,234
Ensembl chr 4:81,302,353...81,306,234
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Hoxd10
homeo box D10
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22227861
NCBI chr 3:59,594,516...59,597,725
Ensembl chr 3:59,594,516...59,597,725
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Hoxd11
homeobox D11
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22227861
NCBI chr 3:59,584,840...59,587,257
Ensembl chr 3:59,585,039...59,586,783
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Hras
HRas proto-oncogene, GTPase
ISO
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
PMID:1904555 PMID:2105486 PMID:3510078 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:17601930 PMID:17979197 PMID:18039947 PMID:18042262 PMID:18247425 PMID:18642361 PMID:18978862 PMID:19206176 PMID:19213030 PMID:19255327 PMID:19371735 PMID:19382114 PMID:19669404 PMID:19773371 PMID:19855393 PMID:20658932 PMID:20660566 PMID:20859122 PMID:20937837 PMID:20979192 PMID:21344638 PMID:21438134 PMID:21495179 PMID:21686750 PMID:21834037 PMID:21850009 PMID:22087699 PMID:22256804 PMID:22317973 PMID:22420426 PMID:22495892 PMID:22499344 PMID:22683711 PMID:22726224 PMID:22926243 PMID:23093928 PMID:23096712 PMID:23406027 PMID:23429430 PMID:23751039 PMID:23884457 PMID:24006476 PMID:24033266 PMID:24129065 PMID:24169525 PMID:24224811 PMID:24390138 PMID:24803665 PMID:25157968 PMID:25326635 PMID:25695684 PMID:25741868 PMID:25815234 PMID:25914166 PMID:26467025 PMID:26619011 PMID:26778095 PMID:26916728 PMID:27102959 PMID:27195699 PMID:27283355 PMID:27444071 PMID:27589201 PMID:28027064 PMID:28139825 PMID:28492532 PMID:29493581 PMID:30055033 PMID:30138938 PMID:30191474 PMID:31222966 PMID:31394527 PMID:31560489 PMID:31564432 PMID:31775759 PMID:32371413 PMID:32732226 PMID:33027564 PMID:33372952 PMID:34008892 PMID:34958143 PMID:168335863 More...
NCBI chr 1:196,290,127...196,299,823
Ensembl chr 1:196,296,263...196,300,615
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Idh2
isocitrate dehydrogenase (NADP(+)) 2
ISO
ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck
ClinVar
PMID:20171147 PMID:20847235 PMID:20946881 PMID:21647154 PMID:21889589 PMID:22160010 PMID:22397365 PMID:22417203 PMID:22898539 PMID:23558173 PMID:23815907 PMID:23949315 PMID:24049096 PMID:24589777 PMID:24606448 PMID:25157968 PMID:25326635 PMID:25398939 PMID:25741868 PMID:26619011 PMID:28166811 PMID:28492532 PMID:34641967 More...
NCBI chr 1:134,038,644...134,057,969
Ensembl chr 1:134,029,772...134,058,025
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Ifnl3
interferon, lambda 3
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:21304406
NCBI chr 1:83,814,456...83,816,096
Ensembl chr 1:83,814,564...83,816,096
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Igf1
insulin-like growth factor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30594912
NCBI chr 7:22,282,895...22,361,972
Ensembl chr 7:22,282,930...22,359,296
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Il1a
interleukin 1 alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27738319
NCBI chr 3:116,526,601...116,537,055
Ensembl chr 3:116,526,604...116,536,822
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Il1rap
interleukin 1 receptor accessory protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27738319
NCBI chr11:74,062,999...74,199,530
Ensembl chr11:74,070,304...74,199,530
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Il2
interleukin 2
ISO
RGD
PMID:3263896 PMID:2787951
RGD:8662923 , RGD:8662971
NCBI chr 2:120,004,862...120,009,566
Ensembl chr 2:120,004,862...120,009,566
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Ing1
inhibitor of growth family, member 1
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck
OMIM CTD ClinVar
PMID:10866301
NCBI chr16:77,937,276...77,945,320
Ensembl chr16:77,937,279...77,946,264
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Irs1
insulin receptor substrate 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30594912
NCBI chr 9:83,552,964...83,605,797
Ensembl chr 9:83,548,944...83,606,122
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Junb
JunB proto-oncogene, AP-1 transcription factor subunit
ameliorates
ISO
human cell line in a mouse model
RGD
PMID:26754630
RGD:11556098
NCBI chr19:23,176,265...23,178,049
Ensembl chr19:23,176,294...23,178,035
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Keap1
Kelch-like ECH-associated protein 1
ISO
ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck
ClinVar
NCBI chr 8:19,768,375...19,777,862
Ensembl chr 8:19,768,375...19,777,862
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Kiss1
KiSS-1 metastasis-suppressor
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:21383688
NCBI chr13:44,775,106...44,780,707
Ensembl chr13:44,774,823...44,780,612
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Kit
KIT proto-oncogene receptor tyrosine kinase
ISO
ClinVar Annotator: match by term: Lip and oral cavity carcinoma
ClinVar
PMID:16307017 PMID:22703879 PMID:24728327 PMID:25741868 PMID:28492532 PMID:31775759 More...
NCBI chr14:32,547,459...32,624,694
Ensembl chr14:32,548,877...32,624,652
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Lnx1
ligand of numb-protein X 1
ISO
ClinVar Annotator: match by term: Lip and oral cavity carcinoma
ClinVar
PMID:26614431
NCBI chr14:33,514,429...33,617,086
Ensembl chr14:33,514,436...33,617,086
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Lrrc56
leucine rich repeat containing 56
ISO
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: 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
PMID:1904555 PMID:2105486 PMID:3510078 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:17601930 PMID:17979197 PMID:18039947 PMID:18042262 PMID:18247425 PMID:18642361 PMID:18978862 PMID:19206176 PMID:19213030 PMID:19255327 PMID:19371735 PMID:19382114 PMID:19669404 PMID:19773371 PMID:19855393 PMID:20658932 PMID:20660566 PMID:20859122 PMID:20937837 PMID:20979192 PMID:21344638 PMID:21438134 PMID:21495179 PMID:21686750 PMID:21834037 PMID:21850009 PMID:22087699 PMID:22256804 PMID:22317973 PMID:22420426 PMID:22495892 PMID:22499344 PMID:22683711 PMID:22726224 PMID:22926243 PMID:23093928 PMID:23096712 PMID:23406027 PMID:23429430 PMID:23751039 PMID:23884457 PMID:24006476 PMID:24033266 PMID:24129065 PMID:24169525 PMID:24224811 PMID:24390138 PMID:24803665 PMID:25157968 PMID:25326635 PMID:25695684 PMID:25741868 PMID:25815234 PMID:25914166 PMID:26467025 PMID:26619011 PMID:26778095 PMID:26916728 PMID:27102959 PMID:27195699 PMID:27283355 PMID:27444071 PMID:27589201 PMID:28027064 PMID:28139825 PMID:28492532 PMID:29493581 PMID:30055033 PMID:30138938 PMID:30191474 PMID:31222966 PMID:31394527 PMID:31560489 PMID:31564432 PMID:31775759 PMID:32371413 PMID:32732226 PMID:33027564 PMID:33372952 PMID:34008892 PMID:34958143 PMID:168335863 More...
NCBI chr 1:196,299,843...196,315,170
Ensembl chr 1:196,299,846...196,315,172
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Map2k1
mitogen activated protein kinase kinase 1
ISO
ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck
ClinVar
PMID:23444215 PMID:25157968 PMID:26619011
NCBI chr 8:64,683,449...64,754,900
Ensembl chr 8:64,683,449...64,755,147
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Map2k2
mitogen activated protein kinase kinase 2
ISO
ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck
ClinVar
PMID:18042262 PMID:26619011
NCBI chr 7:8,590,729...8,610,279
Ensembl chr 7:8,580,905...8,610,243
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Mapk1
mitogen activated protein kinase 1
ISO
ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck
ClinVar
PMID:26619011
NCBI chr11:83,957,813...84,023,629
Ensembl chr11:83,957,813...84,023,616
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Mgmt
O-6-methylguanine-DNA methyltransferase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24991542
NCBI chr 1:191,710,980...191,937,760
Ensembl chr 1:191,710,930...191,937,756
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Mir155
microRNA 155
ISO
RGD
PMID:30617160
RGD:21081517
NCBI chr11:23,774,654...23,774,718
Ensembl chr11:23,774,654...23,774,718
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Mir222
microRNA 222
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19487542
NCBI chr X:3,428,904...3,429,006
Ensembl chr X:3,428,904...3,429,006
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Mir494
microRNA 494
exacerbates
ISO
RGD
PMID:26090866
RGD:11529207
NCBI chr 6:128,728,710...128,728,792
Ensembl chr 6:128,728,709...128,728,793
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Mmp2
matrix metallopeptidase 2
ISO
ClinVar Annotator: match by term: Lip and oral cavity carcinoma
ClinVar
PMID:28595731
NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870
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Naip6
NLR family, apoptosis inhibitory protein 6
ameliorates
ISO
mRNA:increased expression:head or neck skin (human)
RGD
PMID:31964418
RGD:153344516
NCBI chr 2:31,507,423...31,559,098
Ensembl chr 2:31,507,424...31,570,542
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Nampt
nicotinamide phosphoribosyltransferase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28501332
NCBI chr 6:49,425,316...49,462,109
Ensembl chr 6:49,424,332...49,462,100
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Ndrg1
N-myc downstream regulated 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22972152
NCBI chr 7:98,684,487...98,725,869
Ensembl chr 7:98,684,487...98,725,880
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Nfe2l2
NFE2 like bZIP transcription factor 2
ISO
ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck
ClinVar
PMID:26619011 PMID:29018201
NCBI chr 3:60,594,239...60,621,712
Ensembl chr 3:60,594,242...60,621,737
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Nsdhl
NAD(P) dependent steroid dehydrogenase-like
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23125191
NCBI chr X:150,775,034...150,807,161
Ensembl chr X:150,775,080...150,807,142
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Ogg1
8-oxoguanine DNA glycosylase
susceptibility
ISO
DNA:SNP: :rs1052133 (human)
RGD
PMID:22081374 PMID:21727658
RGD:8657144 , RGD:8657147
NCBI chr 4:146,474,701...146,481,959
Ensembl chr 4:146,474,750...146,484,766
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Pik3ca
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
ISO
CTD Direct Evidence: marker/mechanism 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 ClinVar
PMID:15016963 PMID:15254419 PMID:15520168 PMID:15608678 PMID:15647370 PMID:15805248 PMID:15930273 PMID:16353168 PMID:16906227 PMID:16930767 PMID:17376864 PMID:17673550 PMID:18074223 PMID:18371219 PMID:18676830 PMID:18725974 PMID:19029981 PMID:19223544 PMID:19366826 PMID:19513541 PMID:19671852 PMID:19903786 PMID:20177704 PMID:20453058 PMID:20581867 PMID:20593314 PMID:20619739 PMID:21078999 PMID:21430269 PMID:21558396 PMID:21824802 PMID:22120714 PMID:22162582 PMID:22162589 PMID:22209294 PMID:22271473 PMID:22357840 PMID:22370636 PMID:22658544 PMID:22729222 PMID:22729223 PMID:22729224 PMID:22949682 PMID:23066039 PMID:23100325 PMID:23246288 PMID:23408298 PMID:23873848 PMID:23888070 PMID:23946963 PMID:24033266 PMID:24265155 PMID:24497998 PMID:24559322 PMID:24782230 PMID:25157968 PMID:25599672 PMID:25741868 PMID:25880439 PMID:25915946 PMID:26266975 PMID:26266985 PMID:26351730 PMID:26619011 PMID:26627007 PMID:26637981 PMID:26822237 PMID:26851524 PMID:27126994 PMID:27283355 PMID:27626068 PMID:27631024 PMID:28151489 PMID:28425981 PMID:28492532 PMID:28941273 PMID:29446767 PMID:29549527 PMID:29661094 PMID:29758562 PMID:29988677 PMID:30063105 PMID:30376034 PMID:30543347 PMID:31536475 PMID:31568861 PMID:31775759 PMID:32778138 PMID:34008892 PMID:34496175 PMID:37712948 More...
NCBI chr 2:115,175,275...115,249,034
Ensembl chr 2:115,174,984...115,249,032
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Polr1c
RNA polymerase I and III subunit C
ISO
ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck
ClinVar
NCBI chr 9:14,735,740...14,739,852
Ensembl chr 9:14,735,714...14,739,852
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Ppp2r1a
protein phosphatase 2 scaffold subunit A alpha
ISO
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:25741868 PMID:26168268 PMID:26619011 PMID:28492532 PMID:31687265 PMID:33106617 PMID:34930662 More...
NCBI chr 1:60,540,223...60,559,467
Ensembl chr 1:60,540,194...60,560,129
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Prex2
phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2
ISO
ClinVar Annotator: match by term: Lip and oral cavity carcinoma
ClinVar
PMID:26614431
NCBI chr 5:7,937,692...8,253,112
Ensembl chr 5:7,942,573...8,253,068
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Pten
phosphatase and tensin homolog
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck
CTD ClinVar
PMID:1945792 PMID:9467011 PMID:9915974 PMID:10866302 PMID:11051241 PMID:11504908 PMID:11801303 PMID:11875759 PMID:11948419 PMID:16773562 PMID:17526801 PMID:17942903 PMID:18767981 PMID:19457929 PMID:20085938 PMID:20300775 PMID:20301661 PMID:20926450 PMID:21190448 PMID:21194675 PMID:21659347 PMID:21822720 PMID:21824802 PMID:21828076 PMID:22266152 PMID:22320991 PMID:22327138 PMID:22595938 PMID:23335809 PMID:23361946 PMID:23399955 PMID:23470840 PMID:23873848 PMID:24292679 PMID:24778394 PMID:25157968 PMID:25527629 PMID:25741868 PMID:26619011 PMID:26798346 PMID:27477328 PMID:27535533 PMID:28475857 PMID:28492532 PMID:28677221 PMID:29359449 PMID:29706350 PMID:30311380 PMID:30528446 PMID:31159747 PMID:32350270 PMID:32442409 PMID:33077954 More...
NCBI chr 1:230,630,443...230,697,070
Ensembl chr 1:230,630,338...230,696,838
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Ptgs2
prostaglandin-endoperoxide synthase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12969226
NCBI chr13:62,163,936...62,172,193
Ensembl chr13:62,163,932...62,172,188
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Ptpn13
protein tyrosine phosphatase, non-receptor type 13
susceptibility
ISO
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 chr14:6,108,202...6,282,619
Ensembl chr14:6,108,211...6,282,563
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Rac1
Rac family small GTPase 1
ISO
ClinVar Annotator: match by term: Head and neck squamous cell carcinoma
ClinVar
PMID:25056119 PMID:26619011
NCBI chr12:11,037,028...11,057,251
Ensembl chr12:11,036,698...11,057,251
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Rasgrp3
RAS guanyl releasing protein 3
ISO
ClinVar Annotator: match by term: Lip and oral cavity carcinoma
ClinVar
PMID:26614431
NCBI chr 6:19,895,361...19,993,945
Ensembl chr 6:19,895,390...19,958,578
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Rb1
RB transcriptional corepressor 1
ISO
ClinVar Annotator: match by term: Lip and oral cavity carcinoma
ClinVar
PMID:31775759
NCBI chr15:48,371,295...48,502,473
Ensembl chr15:48,371,296...48,502,302
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Rhoa
ras homolog family member A
ISO
ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck
ClinVar
PMID:26619011
NCBI chr 8:108,991,926...109,025,746
Ensembl chr 8:108,991,954...109,025,746
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Samd4a
sterile alpha motif domain containing 4A
ISO
ClinVar Annotator: match by term: Lip and oral cavity carcinoma
ClinVar
PMID:28580594
NCBI chr15:20,135,994...20,352,131
Ensembl chr15:20,134,377...20,348,380
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Serpine1
serpin family E member 1
severity
ISO
protein:increased expression:oral mucosa (human)
RGD
PMID:15878520
RGD:8547730
NCBI chr12:19,601,272...19,611,657
Ensembl chr12:19,601,272...19,611,657
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Slc29a1
solute carrier family 29 member 1
ISO
ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck
ClinVar
NCBI chr 9:15,399,661...15,414,203
Ensembl chr 9:15,399,612...15,414,203
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Smad4
SMAD family member 4
ISO
ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck
ClinVar RGD
PMID:8898652 PMID:9214508 PMID:9285566 PMID:9582123 PMID:9679244 PMID:9811934 PMID:10479724 PMID:10764709 PMID:10775259 PMID:10797267 PMID:11274206 PMID:11583957 PMID:12821112 PMID:14715079 PMID:15014009 PMID:15031030 PMID:15235019 PMID:16613914 PMID:17873119 PMID:17994767 PMID:18823382 PMID:20101697 PMID:20301642 PMID:22316667 PMID:22331366 PMID:25741868 PMID:26572829 PMID:26619011 PMID:26900293 PMID:27595937 PMID:28492532 PMID:31837202 PMID:32300199 PMID:32573726 PMID:32944796 PMID:19841536 More...
RGD:12880035
NCBI chr18:67,243,742...67,274,438
Ensembl chr18:67,243,742...67,274,438
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Sntb1
syntrophin, beta 1
ISO
ClinVar Annotator: match by term: Lip and oral cavity carcinoma
ClinVar
PMID:28595731
NCBI chr 7:87,060,926...87,329,315
Ensembl chr 7:87,060,926...87,329,315
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Sod2
superoxide dismutase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20618948
NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189
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Stat3
signal transducer and activator of transcription 3
treatment
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:27064016 PMID:24395569
RGD:8694302
NCBI chr10:85,811,206...85,863,057
Ensembl chr10:85,811,218...85,863,057
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Stk11
serine/threonine kinase 11
ISO
ClinVar Annotator: match by term: Lip and oral cavity carcinoma
ClinVar
PMID:25741868 PMID:26467025 PMID:28492532 PMID:31775759 PMID:34326862
NCBI chr 7:9,574,553...9,591,315
Ensembl chr 7:9,575,269...9,591,315
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Tnfrsf10b
TNF receptor superfamily member 10b
ISO
DNA:missense mutation:cds:p.E228A (c.683A>C) (human)
RGD
PMID:16217763
RGD:11038717
NCBI chr15:44,840,386...44,868,318
Ensembl chr15:44,840,386...44,867,467
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Tp53
tumor protein p53
ISO
CTD Direct Evidence: marker/mechanism 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: 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
CTD ClinVar
PMID:124622 PMID:253702 PMID:960674 PMID:1349102 PMID:1349175 PMID:1359493 PMID:1565143 PMID:1565144 PMID:1569604 PMID:1581912 PMID:1591732 PMID:1631137 PMID:1631151 PMID:1644930 PMID:1673792 PMID:1679237 PMID:1683921 PMID:1686725 PMID:1737852 PMID:1849234 PMID:1915267 PMID:1975675 PMID:1978757 PMID:1999338 PMID:2046748 PMID:2259385 PMID:2531845 PMID:2554494 PMID:2654466 PMID:2932480 PMID:3784963 PMID:4122735 PMID:6736287 PMID:7565304 PMID:7651740 PMID:7700647 PMID:7706467 PMID:7707106 PMID:7732013 PMID:7737263 PMID:7783166 PMID:7791795 PMID:7881428 PMID:7885831 PMID:7887414 PMID:7966399 PMID:7981076 PMID:8012986 PMID:8023157 PMID:8062826 PMID:8080050 PMID:8099841 PMID:8102535 PMID:8118819 PMID:8134126 PMID:8164043 PMID:8242631 PMID:8242752 PMID:8276238 PMID:8308926 PMID:8336941 PMID:8344492 PMID:8364550 PMID:8401536 PMID:8402598 PMID:8423216 PMID:8425176 PMID:8464896 PMID:8479749 PMID:8527048 PMID:8550239 PMID:8633021 PMID:8675009 PMID:8688334 PMID:8710380 PMID:8718514 PMID:8825920 PMID:8829627 PMID:8829653 PMID:8869100 PMID:9020384 PMID:9047394 PMID:9049183 PMID:9067756 PMID:9096669 PMID:9150393 PMID:9157982 PMID:9218725 PMID:9242456 PMID:9268986 PMID:9285560 PMID:9290701 PMID:9301461 PMID:9364015 PMID:9399658 PMID:9399838 PMID:9407971 PMID:9470817 PMID:9472631 PMID:9525742 PMID:9536098 PMID:9546439 PMID:9569050 PMID:9572492 PMID:9582268 PMID:9598730 PMID:9607760 PMID:9627118 PMID:9632751 PMID:9635828 PMID:9662334 PMID:9667734 PMID:9704930 PMID:9704931 PMID:9825943 PMID:9839505 PMID:9891044 PMID:9979965 PMID:10064694 PMID:10089074 PMID:10229196 PMID:10366100 PMID:10389749 PMID:10411893 PMID:10432928 PMID:10435620 PMID:10486318 PMID:10519380 PMID:10519384 PMID:10554037 PMID:10567903 PMID:10589545 PMID:10616528 PMID:10713666 PMID:10753186 PMID:10761705 PMID:10797439 PMID:10802655 PMID:10864200 PMID:10871862 PMID:10914716 PMID:10922393 PMID:10949938 PMID:11051239 PMID:11051241 PMID:11101847 PMID:11139324 PMID:11152481 PMID:11180592 PMID:11313981 PMID:11370630 PMID:11403041 PMID:11423991 PMID:11429705 PMID:11479205 PMID:11481490 PMID:11590071 PMID:11593407 PMID:11600572 PMID:11668501 PMID:11753428 PMID:11782540 PMID:11793474 PMID:11805092 PMID:11896595 PMID:11900253 PMID:11920788 PMID:11920959 PMID:12007217 PMID:12019170 PMID:12034820 PMID:12067251 PMID:12076704 PMID:12124823 PMID:12406399 PMID:12506399 PMID:12509279 PMID:12567188 PMID:12619118 PMID:12672316 PMID:12695689 PMID:12700230 PMID:12702523 PMID:12726864 PMID:12826609 PMID:12885464 PMID:12909720 PMID:12917626 PMID:14559903 PMID:14584079 PMID:14639659 PMID:14673037 PMID:14743206 PMID:15004724 PMID:15017592 PMID:15037740 PMID:15077194 PMID:15121773 PMID:15138567 PMID:15161705 PMID:15221755 PMID:15355915 PMID:15381368 PMID:15390294 PMID:15541116 PMID:15580553 PMID:15607980 PMID:15607981 PMID:15611505 PMID:15654279 PMID:15659650 PMID:15722483 PMID:15741269 PMID:15781620 PMID:15825182 PMID:15850016 PMID:15925506 PMID:15951970 PMID:15958617 PMID:15964795 PMID:15977174 PMID:15982667 PMID:15993273 PMID:16007150 PMID:16033918 PMID:16199547 PMID:16199549 PMID:16206219 PMID:16209708 PMID:16258005 PMID:16288208 PMID:16312222 PMID:16322298 PMID:16337994 PMID:16401470 PMID:16461914 PMID:16474844 PMID:16489069 PMID:16492679 PMID:16494995 PMID:16508005 PMID:16534790 PMID:16551709 PMID:16633321 PMID:16644204 PMID:16682957 PMID:16736287 PMID:16741917 PMID:16750598 PMID:16754663 PMID:16778209 PMID:16793544 PMID:16818505 PMID:16827139 PMID:16861262 PMID:16964264 PMID:17015838 PMID:17133269 PMID:17170001 PMID:17308077 PMID:17311302 PMID:17318340 PMID:17390010 PMID:17401428 PMID:17417627 PMID:17427234 PMID:17530187 PMID:17535973 PMID:17540308 PMID:17541742 PMID:17567834 PMID:17572079 PMID:17576681 PMID:17599946 PMID:17606709 PMID:17636407 PMID:17638920 PMID:17724467 PMID:17875924 PMID:17881637 PMID:17947339 PMID:18208484 PMID:18248785 PMID:18307025 PMID:18391940 PMID:18453682 PMID:18511570 PMID:18555592 PMID:18628487 PMID:18685109 PMID:18689542 PMID:18818522 PMID:18937320 PMID:18978813 PMID:18989156 PMID:19012332 PMID:19046423 PMID:19101993 PMID:19127115 PMID:19139070 PMID:19147582 PMID:19171880 PMID:19336573 PMID:19367569 PMID:19378321 PMID:19405127 PMID:19416725 PMID:19454241 PMID:19462533 PMID:19468865 PMID:19521721 PMID:19556618 PMID:19681600 PMID:19717094 PMID:19756158 PMID:19834951 PMID:19850740 PMID:19877175 PMID:19881536 PMID:19909015 PMID:19913028 PMID:19930417 PMID:19933256 PMID:20013323 PMID:20028212 PMID:20113312 PMID:20118236 PMID:20127978 PMID:20128691 PMID:20182602 PMID:20195489 PMID:20234365 PMID:20301488 PMID:20308654 PMID:20364130 PMID:20407015 PMID:20471942 PMID:20504876 PMID:20505364 PMID:20506564 PMID:20516128 PMID:20520810 PMID:20522432 PMID:20538734 PMID:20589832 PMID:20593220 PMID:20658636 PMID:20689556 PMID:20693561 PMID:20805372 PMID:20878954 PMID:20972454 PMID:21056685 PMID:21059199 PMID:21060032 PMID:21113594 PMID:21115975 PMID:21118481 PMID:21153778 PMID:21159183 PMID:21187651 PMID:21192060 PMID:21225465 PMID:21232794 PMID:21305319 PMID:21319261 PMID:21331359 PMID:21343334 PMID:21348641 PMID:21356188 PMID:21445056 PMID:21445348 PMID:21468523 PMID:21483000 PMID:21484931 PMID:21514416 PMID:21519010 PMID:21522129 PMID:21535297 PMID:21552135 PMID:21590121 PMID:21601526 PMID:21619694 PMID:21626334 PMID:21666498 PMID:21672450 PMID:21674059 PMID:21747090 PMID:21760960 PMID:21760996 PMID:21761402 PMID:21878961 PMID:21934104 PMID:22004116 PMID:22006311 PMID:22052707 PMID:22090360 PMID:22109999 PMID:22110706 PMID:22114072 PMID:22170717 PMID:22186996 PMID:22198284 PMID:22203015 PMID:22233476 PMID:22265402 PMID:22319594 PMID:22373952 PMID:22427690 PMID:22455664 PMID:22484423 PMID:22551548 PMID:22553421 PMID:22553460 PMID:22672556 PMID:22698404 PMID:22703879 PMID:22710932 PMID:22713868 PMID:22729912 PMID:22744426 PMID:22768918 PMID:22811390 PMID:22822097 PMID:22869713 PMID:22887876 PMID:22899716 PMID:22915647 PMID:22919068 PMID:22923379 PMID:22955915 PMID:22983585 PMID:22999923 PMID:23031740 PMID:23056559 PMID:23124483 PMID:23161690 PMID:23165212 PMID:23172776 PMID:23175693 PMID:23200980 PMID:23246812 PMID:23255406 PMID:23259501 PMID:23263379 PMID:23264849 PMID:23265383 PMID:23334668 PMID:23340422 PMID:23406775 PMID:23469205 PMID:23484829 PMID:23531339 PMID:23538418 PMID:23570263 PMID:23612969 PMID:23624782 PMID:23625637 PMID:23630318 PMID:23667202 PMID:23713777 PMID:23733769 PMID:23792586 PMID:23794094 PMID:23887774 PMID:23894400 PMID:23897043 PMID:23950206 PMID:23967324 PMID:24033266 PMID:24038938 PMID:24065105 PMID:24076587 PMID:24122735 PMID:24171036 PMID:24256616 PMID:24278325 PMID:24307375 PMID:24326041 PMID:24381225 PMID:24382691 PMID:24384472 PMID:24487413 PMID:24501221 PMID:24549055 PMID:24556621 PMID:24573247 PMID:24590827 PMID:24603336 PMID:24630730 PMID:24641375 PMID:24651012 PMID:24651015 PMID:24665023 PMID:24677579 PMID:24700732 PMID:24702488 PMID:24728327 PMID:24729566 PMID:24744791 PMID:24763289 PMID:24797764 PMID:24803582 PMID:24810334 PMID:24835218 PMID:24857548 PMID:24884479 PMID:24908601 PMID:24936644 PMID:25059482 PMID:25086664 PMID:25119136 PMID:25131192 PMID:25157968 PMID:25184754 PMID:25186627 PMID:25234657 PMID:25256166 PMID:25293557 PMID:25294809 PMID:25299233 PMID:25303977 PMID:25326637 PMID:25339994 PMID:25348012 PMID:25404506 PMID:25428789 PMID:25433984 PMID:25490274 PMID:25490678 PMID:25503501 PMID:25504633 PMID:25525159 PMID:25584008 PMID:25584637 PMID:25612911 PMID:25619955 PMID:25634010 PMID:25634208 PMID:25637381 PMID:25669829 PMID:25691460 PMID:25736369 PMID:25741868 PMID:25742471 PMID:25757876 PMID:25787918 PMID:25886176 PMID:25896519 PMID:25925845 PMID:25927356 PMID:25945745 PMID:25952993 PMID:25980754 PMID:26000489 PMID:26014290 PMID:26022348 PMID:26024390 PMID:26066407 PMID:26086041 PMID:26205489 PMID:26206375 PMID:26225655 PMID:26230955 PMID:26270727 PMID:26271412 PMID:26332594 PMID:26425688 PMID:26452166 PMID:26467025 PMID:26484312 PMID:26497680 PMID:26554828 PMID:26556299 PMID:26572807 PMID:26585234 PMID:26619011 PMID:26628864 PMID:26659639 PMID:26681051 PMID:26681312 PMID:26781615 PMID:26786923 PMID:26787237 PMID:26818906 PMID:26822237 PMID:26845104 PMID:26878390 PMID:26911350 PMID:26976419 PMID:27022024 PMID:27059324 PMID:27077130 PMID:27081505 PMID:27091190 PMID:27101868 PMID:27146902 PMID:27149858 PMID:27153395 PMID:27179933 PMID:27189670 PMID:27210295 PMID:27223487 PMID:27276561 PMID:27276934 PMID:27328919 PMID:27372520 PMID:27374712 PMID:27391063 PMID:27449771 PMID:27458004 PMID:27463065 PMID:27489289 PMID:27493922 PMID:27501770 PMID:27516001 PMID:27523101 PMID:27533082 PMID:27616075 PMID:27619989 PMID:27621308 PMID:27622479 PMID:27663983 PMID:27680515 PMID:27683180 PMID:27714481 PMID:27724982 PMID:27726232 PMID:27730344 PMID:27866339 PMID:27873457 PMID:27895058 PMID:27911860 PMID:27923552 PMID:27959731 PMID:27993330 PMID:28135145 PMID:28152038 PMID:28160093 PMID:28176830 PMID:28202063 PMID:28230820 PMID:28279309 PMID:28349240 PMID:28356770 PMID:28369373 PMID:28387921 PMID:28453743 PMID:28472496 PMID:28477316 PMID:28477317 PMID:28486781 PMID:28492532 PMID:28503720 PMID:28573494 PMID:28724667 PMID:28756477 PMID:28767289 PMID:28776571 PMID:28802053 PMID:28861920 PMID:28864397 PMID:28873162 PMID:28968711 PMID:28973705 PMID:28975465 PMID:28984303 PMID:29025599 PMID:29058119 PMID:29059199 PMID:29070607 PMID:29076966 PMID:29126202 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:29875428 PMID:29922827 PMID:29946497 PMID:29955864 PMID:29958926 PMID:29979965 PMID:30042151 PMID:30067863 PMID:30076369 PMID:30092803 PMID:30099178 PMID:30107858 PMID:30128536 PMID:30152528 PMID:30216591 PMID:30224644 PMID:30262806 PMID:30287823 PMID:30299350 PMID:30306255 PMID:30311369 PMID:30318520 PMID:30322717 PMID:30327374 PMID:30352134 PMID:30374176 PMID:30450585 PMID:30546832 PMID:30583724 PMID:30588330 PMID:30594912 PMID:30596752 PMID:30607672 PMID:30630526 PMID:30653764 PMID:30675318 PMID:30709381 PMID:30709875 PMID:30720243 PMID:30730202 PMID:30816478 PMID:30840781 PMID:30918304 PMID:30982232 PMID:31016814 PMID:31081129 PMID:31105275 PMID:31119730 PMID:31121848 PMID:31127191 PMID:31168460 PMID:31206626 PMID:31278746 PMID:31296311 PMID:31300551 PMID:31321604 PMID:31422574 PMID:31494577 PMID:31567591 PMID:31744167 PMID:31748977 PMID:31775759 PMID:31882575 PMID:31948886 PMID:31978118 PMID:32000721 PMID:32019277 PMID:32039725 PMID:32126783 PMID:32156018 PMID:32164171 PMID:32179180 PMID:32187361 PMID:32295079 PMID:32318955 PMID:32475984 PMID:32554555 PMID:32566746 PMID:32592449 PMID:32658311 PMID:32658383 PMID:32671623 PMID:32817165 PMID:32832836 PMID:32885271 PMID:32888145 PMID:32906206 PMID:32930885 PMID:32959997 PMID:32980694 PMID:32986223 PMID:32994724 PMID:33051313 PMID:33087929 PMID:33089535 PMID:33128190 PMID:33138793 PMID:33163847 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:33674644 PMID:33758026 PMID:33818021 PMID:33840814 PMID:34026625 PMID:34049842 PMID:34240179 PMID:34266904 PMID:34273903 PMID:34308366 PMID:34529667 PMID:34675114 PMID:34709361 PMID:34793666 PMID:34805717 PMID:34885220 PMID:34907344 PMID:34994652 PMID:35033608 PMID:35127508 PMID:35264596 PMID:35323354 PMID:35367578 PMID:35512711 PMID:35820297 PMID:35938033 PMID:35974385 PMID:36003761 PMID:36219266 PMID:36329109 PMID:36988593 More...
NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
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U2af1
U2 small nuclear RNA auxiliary factor 1
ISO
ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck
ClinVar
PMID:22158538 PMID:23029227 PMID:23861105 PMID:24498085 PMID:26619011
NCBI chr20:9,742,904...9,753,840
Ensembl chr20:9,742,905...9,753,832
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Vamp7
vesicle-associated membrane protein 7
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23358896
NCBI chr12:16,728,486...16,764,261
Ensembl chr12:16,728,524...16,764,097
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Wee1
WEE1 G2 checkpoint kinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25125259
NCBI chr 1:164,173,681...164,197,688
Ensembl chr 1:164,174,779...164,197,688
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Wrap53
WD repeat containing, antisense to TP53
treatment
ISO
ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck
ClinVar RGD
PMID:25070141 PMID:25456005
RGD:21081533 , RGD:21081529
NCBI chr10:54,282,092...54,299,908
Ensembl chr10:54,282,105...54,298,929
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Yap1
Yes1 associated transcriptional regulator
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20729916
NCBI chr 8:5,095,705...5,166,808
Ensembl chr 8:5,095,722...5,167,010
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Notch1
notch receptor 1
ISO
ClinVar Annotator: match by term: Keratoacanthoma
ClinVar
PMID:27283355
NCBI chr 3:9,277,955...9,323,531
Ensembl chr 3:9,278,086...9,323,531
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Notch2
notch receptor 2
ISO
ClinVar Annotator: match by term: Keratoacanthoma
ClinVar
PMID:27283355
NCBI chr 2:185,610,594...185,744,088
Ensembl chr 2:185,610,589...185,744,088
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Pik3ca
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
ISO
ClinVar Annotator: match by term: Keratoacanthoma
ClinVar
PMID:22949682 PMID:23246288 PMID:25741868 PMID:26619011 PMID:27283355 PMID:28151489 PMID:28492532 More...
NCBI chr 2:115,175,275...115,249,034
Ensembl chr 2:115,174,984...115,249,032
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Ada
adenosine deaminase
ISO
protein:decreased activity:larynx
RGD
PMID:8138195
RGD:152995273
NCBI chr 3:152,398,745...152,422,854
Ensembl chr 3:152,398,747...152,447,088
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Cat
catalase
ISO
protein:increased activity:larynx
RGD
PMID:8138195
RGD:152995273
NCBI chr 3:89,842,393...89,874,577
Ensembl chr 3:89,842,399...89,874,478
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Cdc73
cell division cycle 73
disease_progression
ISO
protein:decreased expression:larynx (human)
RGD
PMID:27334641
RGD:150539447
NCBI chr13:55,357,226...55,449,690
Ensembl chr13:55,357,226...55,449,656
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Cdkn1a
cyclin-dependent kinase inhibitor 1A
ISO
RGD
PMID:15646812
RGD:8662837
NCBI chr20:7,149,177...7,159,727
Ensembl chr20:7,149,217...7,159,585
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Chd4
chromodomain helicase DNA binding protein 4
exacerbates
ISO
mRNA:increased expression:larynx (human)
RGD
PMID:33315534
RGD:153323310
NCBI chr 4:157,898,503...157,931,632
Ensembl chr 4:157,899,391...157,931,541
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Egfr
epidermal growth factor receptor
disease_progression
ISO
RGD
PMID:22549618
RGD:126790474
NCBI chr14:91,176,979...91,349,722
Ensembl chr14:91,177,067...91,344,382
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Erbb2
erb-b2 receptor tyrosine kinase 2
disease_progression
ISO
RGD
PMID:22549618
RGD:126790474
NCBI chr10:83,411,197...83,435,078
Ensembl chr10:83,411,313...83,435,078
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Erbb3
erb-b2 receptor tyrosine kinase 3
disease_progression
ISO
RGD
PMID:22549618
RGD:126790474
NCBI chr 7:994,549...1,015,876
Ensembl chr 7:996,225...1,015,525
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Erbb4
erb-b2 receptor tyrosine kinase 4
disease_progression
ISO
RGD
PMID:22549618
RGD:126790474
NCBI chr 9:69,523,733...70,596,743
Ensembl chr 9:69,531,481...70,596,595
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Foxl2
forkhead box L2
exacerbates
ISO
mRNA:increased expression:larynx (human)
RGD
PMID:32517588
RGD:151667913
NCBI chr 8:99,512,971...99,514,500
Ensembl chr 8:99,513,303...99,514,427
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Gpx1
glutathione peroxidase 1
disease_progression no_association
ISO
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 8:109,026,905...109,028,031
Ensembl chr 8:109,026,905...109,028,024
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Map2k4
mitogen activated protein kinase kinase 4
severity
ISO
associated with Neoplasm Metastasis; protein:mRNA,increased expression:larynx epithelium (human)
RGD
PMID:19513509
RGD:150429781
NCBI chr10:50,343,227...50,447,956
Ensembl chr10:50,344,915...50,447,993
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Mir10a
microRNA 10a
severity
ISO
miRNA:decreased expression:blood serum (human)
RGD
PMID:35117730
RGD:153344530
NCBI chr10:81,283,171...81,283,280
Ensembl chr10:81,283,171...81,283,280
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Mir136
microRNA 136
ISO
RNA:decreased expression:larynx (human)
RGD
PMID:32014687
RGD:153344610
NCBI chr 6:128,549,096...128,549,177
Ensembl chr 6:128,549,096...128,549,177
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Mir21
microRNA 21
exacerbates
ISO
miRNA:increased expression:blood serum (human)
RGD
PMID:35117730
RGD:153344530
NCBI chr10:71,405,257...71,405,348
Ensembl chr10:71,405,257...71,405,348
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Mir31
microRNA 31
disease_progression
ISO
RNA:decreased expression:mucosa of larynx (human)
RGD
PMID:29737563
RGD:152998933
NCBI chr 5:103,599,038...103,599,143
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Mlh1
mutL homolog 1
disease_progression
ISO
mRNA:decreased expression:larynx
RGD
PMID:23787767
RGD:126848783
NCBI chr 8:111,196,468...111,233,721
Ensembl chr 8:111,196,468...111,233,617
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Mmp2
matrix metallopeptidase 2
ISO
RGD
PMID:17786346
RGD:5130203
NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870
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Msh2
mutS homolog 2
disease_progression
ISO
mRNA:decreased expression:larynx
RGD
PMID:23787767
RGD:126848783
NCBI chr 6:6,813,793...6,872,960
Ensembl chr 6:6,813,795...6,872,938
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Nat2
N-acetyltransferase 2
susceptibility
ISO
DNA:polymorphisms: :
RGD
PMID:19922706 PMID:16155914
RGD:5131602 , RGD:5131856
NCBI chr16:22,207,362...22,238,513
Ensembl chr16:22,208,194...22,238,520
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Plcg1
phospholipase C, gamma 1
ameliorates
ISO
mRNA:increased expression:larynx (human)
RGD
PMID:33466212
RGD:151665160
NCBI chr 3:149,385,587...149,416,330
Ensembl chr 3:149,385,587...149,416,330
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Rela
RELA proto-oncogene, NF-kB subunit
severity
ISO
associated with Neoplasm Metastasis; protein:mRNA,increased expression:larynx epithelium (human)
RGD
PMID:19513509
RGD:150429781
NCBI chr 1:202,925,001...202,935,484
Ensembl chr 1:202,924,945...202,935,484
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Xdh
xanthine dehydrogenase
ISO
protein:increased activity:larynx
RGD
PMID:8138195
RGD:152995273
NCBI chr 6:21,530,463...21,592,172
Ensembl chr 6:21,530,113...21,592,268
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Xrcc1
X-ray repair cross complementing 1
ISO
ClinVar Annotator: match by term: Laryngeal squamous cell carcinoma
ClinVar
NCBI chr 1:80,140,495...80,168,705
Ensembl chr 1:80,141,207...80,168,701
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Akt1
AKT serine/threonine kinase 1
ISO
ClinVar Annotator: match by term: Squamous cell carcinoma of lung
ClinVar
PMID:17611497 PMID:18256540 PMID:18392055 PMID:18504432 PMID:18611285 PMID:18954143 PMID:19418217 PMID:19487299 PMID:19853286 PMID:20233444 PMID:20453058 PMID:21464312 PMID:21512767 PMID:21793738 PMID:22538770 PMID:22610119 PMID:22722201 PMID:22722839 PMID:22980975 PMID:23237847 PMID:23348505 PMID:23700467 PMID:23728071 PMID:23934607 PMID:24190505 PMID:24657128 PMID:25157968 PMID:25741868 PMID:26619011 PMID:28492532 More...
NCBI chr 6:131,713,716...131,735,319
Ensembl chr 6:131,713,720...131,733,921
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Alk
ALK receptor tyrosine kinase
ISO
ClinVar Annotator: match by term: Squamous cell lung carcinoma
ClinVar
PMID:24033266 PMID:24728327 PMID:25741868 PMID:28492532
NCBI chr 6:22,879,653...23,599,636
Ensembl chr 6:22,880,625...23,598,034
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Arhgap44
Rho GTPase activating protein 44
ISO
mRNA:decreased expression:lung (human)
RGD
PMID:28527113
RGD:401901290
NCBI chr10:49,655,583...49,822,876
Ensembl chr10:49,655,584...49,824,297
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Arid1a
AT-rich interaction domain 1A
exacerbates
ISO
protein:decreased expression:lung (human)
RGD
PMID:32823232
RGD:126848760
NCBI chr 5:145,908,173...145,981,552
Ensembl chr 5:145,908,181...145,985,564
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Arpc5
actin related protein 2/3 complex, subunit 5
ISO
mRNA:increased expression:lung (human)
RGD
PMID:22089643
RGD:11049488
NCBI chr13:64,904,504...64,913,413
Ensembl chr13:64,887,136...64,913,410
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Atm
ATM serine/threonine kinase
susceptibility
ISO
DNA:SNP:intron:(rs228589) (human)
RGD
PMID:28642860
RGD:150383339
NCBI chr 8:53,828,741...53,932,773
Ensembl chr 8:53,831,093...53,932,437
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Atrx
ATRX, chromatin remodeler
severity
ISO
RGD
PMID:31374064
RGD:127285382
NCBI chr X:70,850,981...70,997,330
Ensembl chr X:70,850,981...70,997,330
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B2m
beta-2 microglobulin
ISO
ClinVar Annotator: match by term: Squamous cell lung carcinoma
ClinVar
PMID:26619011
NCBI chr 3:109,095,740...109,101,764
Ensembl chr 3:109,095,729...109,101,766
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Birc5
baculoviral IAP repeat-containing 5
disease_progression
ISO
mRNA:increased expression:lung (human)
RGD
PMID:31964418
RGD:153344516
NCBI chr10:103,072,530...103,081,382
Ensembl chr10:103,073,408...103,081,380
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Birc6
baculoviral IAP repeat-containing 6
disease_progression
ISO
mRNA:increased expression:lung (human)
RGD
PMID:31964418
RGD:153344516
NCBI chr 6:20,722,922...20,916,396
Ensembl chr 6:20,722,922...20,916,434
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Braf
B-Raf proto-oncogene, serine/threonine kinase
ISO
ClinVar Annotator: match by term: Squamous cell lung carcinoma
ClinVar
PMID:12068308 PMID:12460918 PMID:12460919 PMID:12960123 PMID:14612909 PMID:15035987 PMID:16439621 PMID:16474404 PMID:17603483 PMID:18042262 PMID:18186519 PMID:18794803 PMID:19010912 PMID:19206169 PMID:19238210 PMID:19537845 PMID:20350999 PMID:21062266 PMID:21129611 PMID:21483012 PMID:21784453 PMID:22310681 PMID:22649091 PMID:22773810 PMID:23273605 PMID:23833300 PMID:24033266 PMID:24303953 PMID:24446311 PMID:24920063 PMID:25157968 PMID:25463315 PMID:25741868 PMID:25741916 PMID:26619011 PMID:27236105 PMID:27276561 PMID:28492532 PMID:29907801 PMID:31336229 More...
NCBI chr 4:68,375,484...68,510,652
Ensembl chr 4:68,384,649...68,510,463
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Bsg
basigin (Ok blood group)
ISO
mRNA:increased expression:lung
RGD
PMID:9154157
RGD:2289059
NCBI chr 7:9,993,170...10,000,387
Ensembl chr 7:9,993,170...10,000,387
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Cblb
Cbl proto-oncogene B
disease_progression
ISO
RGD
PMID:29384143
RGD:150540336
NCBI chr11:48,589,878...48,756,940
Ensembl chr11:48,592,703...48,756,839
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Ccnd1
cyclin D1
disease_progression
ISO
protein:increased expression:lung
RGD
PMID:27498289
RGD:13434929
NCBI chr 1:200,089,002...200,098,524
Ensembl chr 1:200,089,002...200,098,602
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Ccnd2
cyclin D2
ISO
DNA:hypermethylation:promoter
RGD
PMID:30308939
RGD:151665105
NCBI chr 4:159,966,883...159,989,261
Ensembl chr 4:159,962,363...159,989,495
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Cdk4
cyclin-dependent kinase 4
ISO
protein:increased expression:lung
RGD
PMID:9751261
RGD:13464277
NCBI chr 7:62,886,124...62,889,562
Ensembl chr 7:62,883,105...62,942,403
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Cdkn2a
cyclin-dependent kinase inhibitor 2A
ISO
ClinVar Annotator: match by term: Squamous cell lung carcinoma
ClinVar
PMID:7777061 PMID:8552400 PMID:8573142 PMID:8595405 PMID:8668202 PMID:8723678 PMID:8755727 PMID:8834170 PMID:9053859 PMID:9536098 PMID:9660926 PMID:9710613 PMID:9751050 PMID:9823374 PMID:9856841 PMID:10498896 PMID:11078762 PMID:11358797 PMID:11477665 PMID:11500805 PMID:11687599 PMID:12072543 PMID:14508519 PMID:15140233 PMID:15146471 PMID:15235029 PMID:15860862 PMID:16354195 PMID:16905682 PMID:17576681 PMID:17992122 PMID:18024887 PMID:18573309 PMID:20505745 PMID:21325014 PMID:21462282 PMID:21507037 PMID:22368299 PMID:22841127 PMID:24336570 PMID:24659262 PMID:25157968 PMID:25356972 PMID:25741868 PMID:25780468 PMID:26619011 PMID:26681309 PMID:26775776 PMID:28146043 PMID:28492532 PMID:28592523 PMID:28830827 PMID:29464027 PMID:29983899 PMID:30291219 PMID:30742731 PMID:32455486 PMID:35001868 PMID:36139606 More...
NCBI chr 5:103,984,949...103,992,143
Ensembl chr 5:103,984,949...104,003,149
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Chd4
chromodomain helicase DNA binding protein 4
ISO
mRNA:increased expression:lung (human)
RGD
PMID:28486105
RGD:153323299
NCBI chr 4:157,898,503...157,931,632
Ensembl chr 4:157,899,391...157,931,541
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Chrna5
cholinergic receptor nicotinic alpha 5 subunit
susceptibility
ISO
DNA:SNP: :rs503464(human) mRNA:increased expression:lung
RGD
PMID:23314339 PMID:20124469
RGD:150527849 , RGD:150527851
NCBI chr 8:55,369,794...55,398,526
Ensembl chr 8:55,369,794...55,398,146
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Chrnb4
cholinergic receptor nicotinic beta 4 subunit
susceptibility
ISO
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 chr 8:55,417,583...55,437,027
Ensembl chr 8:55,418,313...55,437,027
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Clptm1l
CLPTM1-like
susceptibility no_association
ISO
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 1:29,667,545...29,683,530
Ensembl chr 1:29,667,545...29,683,530
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Crebbp
CREB binding protein
ISO
ClinVar Annotator: match by term: Squamous cell lung carcinoma
ClinVar
PMID:21390126 PMID:21680795 PMID:21796119 PMID:22832583 PMID:23334668 PMID:23685749 PMID:23778141 PMID:26087898 PMID:26619011 PMID:27257180 PMID:28492532 PMID:28970362 PMID:29551561 PMID:33560380 More...
NCBI chr10:11,335,551...11,461,888
Ensembl chr10:11,335,953...11,461,888
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Csf1r
colony stimulating factor 1 receptor
ISO
protein:increased expression:lung (human)
RGD
PMID:23702648
RGD:150524280
NCBI chr18:54,546,673...54,590,418
Ensembl chr18:54,546,659...54,590,415
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Ctnnb1
catenin beta 1
disease_progression
ISO
protein:increased expression:lung
RGD
PMID:27498289
RGD:13434929
NCBI chr 8:120,640,008...120,667,110
Ensembl chr 8:120,639,995...120,667,111
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Cycs
cytochrome c, somatic
treatment
ISO
RGD
PMID:25578497
RGD:13792769
NCBI chr 4:79,651,894...79,653,994
Ensembl chr 4:79,651,378...79,654,054 Ensembl chr18:79,651,378...79,654,054
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Cyp1b1
cytochrome P450, family 1, subfamily b, polypeptide 1
susceptibility
ISO
Carcinoma, Squamous Cell;DNA:snp:cds:p.A119S (human)
RGD
PMID:10739169
RGD:7829734
NCBI chr 6:15,342,312...15,350,886
Ensembl chr 6:15,342,344...15,350,917
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Ddr2
discoidin domain receptor tyrosine kinase 2
severity
ISO
ClinVar Annotator: match by term: Squamous cell lung carcinoma mRNA:increased expression:lung
ClinVar RGD
PMID:22328973 PMID:25741868 PMID:26206333 PMID:28492532 PMID:24885564 PMID:22807955 More...
RGD:150429702 , RGD:150429703
NCBI chr13:82,193,623...82,318,229
Ensembl chr13:82,195,463...82,317,363
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E2f1
E2F transcription factor 1
treatment
ISO
RGD
PMID:28927142
RGD:13464332
NCBI chr 3:143,064,535...143,075,362
Ensembl chr 3:143,049,478...143,075,361
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E2f3
E2F transcription factor 3
ISO
RGD
PMID:16938365
RGD:13464341
NCBI chr17:34,601,756...34,679,139
Ensembl chr17:34,601,830...34,676,253
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Eef2
eukaryotic translation elongation factor 2
disease_progression
ISO
protein:increased expression:lung (human)
RGD
PMID:27542262
RGD:153298910
NCBI chr 7:8,533,248...8,538,518
Ensembl chr 7:8,533,116...8,559,183
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Egfr
epidermal growth factor receptor
ISO
ClinVar Annotator: match by term: Squamous cell carcinoma of lung | ClinVar Annotator: match by term: Squamous cell lung carcinoma
ClinVar
PMID:15118073 PMID:15118125 PMID:15329413 PMID:15623594 PMID:15897572 PMID:16043828 PMID:16205628 PMID:16707764 PMID:16863509 PMID:16931592 PMID:17368623 PMID:17653080 PMID:17973572 PMID:18000506 PMID:18372921 PMID:18509184 PMID:19147750 PMID:19536777 PMID:19922469 PMID:20522446 PMID:20942962 PMID:22753918 PMID:23102728 PMID:23945392 PMID:24033266 PMID:25157968 PMID:25382819 PMID:25521405 PMID:25741868 PMID:26051236 PMID:26619011 PMID:27294619 PMID:28492532 PMID:29141884 PMID:30098700 PMID:30610926 PMID:31721094 PMID:32171629 PMID:32978515 PMID:32978518 PMID:1111234672 More...
NCBI chr14:91,176,979...91,349,722
Ensembl chr14:91,177,067...91,344,382
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Emx2
empty spiracles homeobox 2
exacerbates
ISO
protein:decreased expression:lung (human)
RGD
PMID:26132438
RGD:11079903
NCBI chr 1:258,626,584...258,633,594
Ensembl chr 1:258,626,584...258,633,594
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Ep300
E1A binding protein p300
ISO
ClinVar Annotator: match by term: Squamous cell lung carcinoma
ClinVar
PMID:26619011
NCBI chr 7:113,108,476...113,178,529
Ensembl chr 7:113,106,247...113,136,088 Ensembl chr 7:113,106,247...113,136,088
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Epha2
Eph receptor A2
ISO
ClinVar Annotator: match by term: Squamous cell lung carcinoma
ClinVar
PMID:20360610 PMID:25741868 PMID:28492532
NCBI chr 5:153,605,644...153,634,115
Ensembl chr 5:153,605,644...153,634,117
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Ercc6
ERCC excision repair 6, chromatin remodeling factor
ISO
mRNA, protein:increased expression:lung (human)
RGD
PMID:31615563
RGD:155260344
NCBI chr16:7,764,983...7,835,587
Ensembl chr16:7,765,013...7,835,587
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Ercc6l
ERCC excision repair 6 like, spindle assembly checkpoint helicase
ISO
mRNA:increased expression:lung (human)
RGD
PMID:35150321
RGD:155260359
NCBI chr X:67,245,414...67,261,222
Ensembl chr X:67,245,414...67,280,756
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Fap
fibroblast activation protein, alpha
disease_progression
ISO
RGD
PMID:26252379
RGD:152600901
NCBI chr 3:47,138,823...47,207,671
Ensembl chr 3:47,138,813...47,225,545
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Fbxw7
F-box and WD repeat domain containing 7
ISO
ClinVar Annotator: match by term: Squamous cell lung carcinoma
ClinVar
PMID:25741868 PMID:26619011
NCBI chr 2:170,149,706...170,311,536
Ensembl chr 2:170,149,694...170,309,941
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Fgf9
fibroblast growth factor 9
ISO
mRNA:decreased expression:lung (human)
RGD
PMID:28440022
RGD:152180844
NCBI chr15:32,208,993...32,254,952
Ensembl chr15:32,210,074...32,253,309
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Fgfr2
fibroblast growth factor receptor 2
ISO
ClinVar Annotator: match by term: Squamous cell lung carcinoma
ClinVar
PMID:9150725 PMID:23786770 PMID:25741868
NCBI chr 1:184,745,418...184,850,655
Ensembl chr 1:184,745,420...184,850,626
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Fgfr3
fibroblast growth factor receptor 3
ISO
ClinVar Annotator: match by term: Squamous cell carcinoma of lung | ClinVar Annotator: match by term: Squamous cell lung carcinoma
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:16841094 PMID:17384684 PMID:18642369 PMID:19381019 PMID:19749790 PMID:20301540 PMID:20420824 PMID:22045636 PMID:25157968 PMID:25606676 PMID:25614871 PMID:25741868 PMID:25741914 PMID:26619011 PMID:28492532 PMID:29593476 PMID:31299979 More...
NCBI chr14:76,987,242...77,002,671
Ensembl chr14:76,987,993...77,003,341
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Fgfr4
fibroblast growth factor receptor 4
disease_progression
ISO
human cells in mouse model
RGD
PMID:29402970
RGD:150429984
NCBI chr17:9,461,541...9,476,268
Ensembl chr17:9,461,547...9,476,242
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Frzb
frizzled-related protein
ISO
protein:decreased expression:lung (human)
RGD
PMID:27623992
RGD:32716395
NCBI chr 3:65,332,274...65,365,208
Ensembl chr 3:65,332,277...65,365,208
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Fubp1
far upstream element binding protein 1
ISO
mRNA:decreased expression:lung (human)
RGD
PMID:32481602
RGD:151361197
NCBI chr 2:241,159,481...241,186,591
Ensembl chr 2:241,159,512...241,186,602
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Gpx1
glutathione peroxidase 1
susceptibility
ISO
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 8:109,026,905...109,028,031
Ensembl chr 8:109,026,905...109,028,024
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Hras
HRas proto-oncogene, GTPase
ISO
ClinVar Annotator: match by term: Squamous cell carcinoma of lung | ClinVar Annotator: match by term: Squamous cell lung carcinoma
ClinVar
PMID:1904555 PMID:3510078 PMID:12835555 PMID:16329078 PMID:16372351 PMID:16835863 PMID:17211612 PMID:17384584 PMID:18042262 PMID:19213030 PMID:19255327 PMID:19773371 PMID:20859122 PMID:20937837 PMID:21438134 PMID:21495179 PMID:21850009 PMID:22256804 PMID:22499344 PMID:22683711 PMID:22726224 PMID:23093928 PMID:23096712 PMID:23406027 PMID:23429430 PMID:23884457 PMID:24006476 PMID:24033266 PMID:24129065 PMID:24224811 PMID:24390138 PMID:25157968 PMID:25326635 PMID:25695684 PMID:25741868 PMID:26619011 PMID:27283355 PMID:27444071 PMID:28492532 PMID:29493581 PMID:30191474 PMID:31775759 PMID:32732226 PMID:33027564 PMID:34958143 PMID:168335863 More...
NCBI chr 1:196,290,127...196,299,823
Ensembl chr 1:196,296,263...196,300,615
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Idh1
isocitrate dehydrogenase (NADP(+)) 1
ISO
protein:increased expression:blood plasma (human)
RGD
PMID:24046070
RGD:149735540
NCBI chr 9:66,534,146...66,563,703
Ensembl chr 9:66,534,146...66,563,708
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Idh2
isocitrate dehydrogenase (NADP(+)) 2
severity susceptibility
ISO
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 chr 1:134,038,644...134,057,969
Ensembl chr 1:134,029,772...134,058,025
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Kit
KIT proto-oncogene receptor tyrosine kinase
ISO
ClinVar Annotator: match by term: Squamous cell lung carcinoma
ClinVar
PMID:25741868
NCBI chr14:32,547,459...32,624,694
Ensembl chr14:32,548,877...32,624,652
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Kmt2d
lysine methyltransferase 2D
disease_progression
ISO
RGD
PMID:24323028 PMID:30885352 PMID:28177435
RGD:150523770 , RGD:150523777 , RGD:150523776
NCBI chr 7:129,980,744...130,022,088
Ensembl chr 7:129,962,887...130,020,325
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Kras
KRAS proto-oncogene, GTPase
ISO
ClinVar Annotator: match by term: Squamous cell carcinoma of lung | ClinVar Annotator: match by term: Squamous cell lung carcinoma
ClinVar
PMID:2278970 PMID:3122217 PMID:6695174 PMID:12460918 PMID:15696205 PMID:16361624 PMID:16434492 PMID:16618717 PMID:17384584 PMID:17704260 PMID:18316791 PMID:18794081 PMID:19018267 PMID:19075190 PMID:19114683 PMID:19255327 PMID:19679400 PMID:19773371 PMID:20921462 PMID:20921465 PMID:21228335 PMID:21975775 PMID:22407852 PMID:22722830 PMID:23182985 PMID:23325582 PMID:23406027 PMID:25157968 PMID:26242988 PMID:26619011 PMID:28492532 More...
NCBI chr 4:178,185,418...178,218,484
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Lamc2
laminin subunit gamma 2
disease_progression
ISO
RGD
PMID:23124251
RGD:13793371
NCBI chr13:65,284,664...65,344,164
Ensembl chr13:65,284,664...65,344,200
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Lrrc56
leucine rich repeat containing 56
ISO
ClinVar Annotator: match by term: Squamous cell carcinoma of lung | ClinVar Annotator: match by term: Squamous cell lung carcinoma
ClinVar
PMID:1904555 PMID:3510078 PMID:12835555 PMID:16329078 PMID:16372351 PMID:16835863 PMID:17211612 PMID:17384584 PMID:18042262 PMID:19213030 PMID:19255327 PMID:19773371 PMID:20859122 PMID:20937837 PMID:21438134 PMID:21495179 PMID:21850009 PMID:22256804 PMID:22499344 PMID:22683711 PMID:22726224 PMID:23093928 PMID:23096712 PMID:23406027 PMID:23429430 PMID:23884457 PMID:24006476 PMID:24033266 PMID:24129065 PMID:24224811 PMID:24390138 PMID:25157968 PMID:25326635 PMID:25695684 PMID:25741868 PMID:26619011 PMID:27283355 PMID:27444071 PMID:28492532 PMID:29493581 PMID:30191474 PMID:31775759 PMID:32732226 PMID:33027564 PMID:34958143 PMID:168335863 More...
NCBI chr 1:196,299,843...196,315,170
Ensembl chr 1:196,299,846...196,315,172
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Map2k1
mitogen activated protein kinase kinase 1
ISO
ClinVar Annotator: match by term: Squamous cell lung carcinoma
ClinVar
PMID:25741868
NCBI chr 8:64,683,449...64,754,900
Ensembl chr 8:64,683,449...64,755,147
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Map2k7
mitogen activated protein kinase kinase 7
ISO
mRNA:decreased expression:lung (human)
RGD
PMID:31089135
RGD:155253742
NCBI chr12:2,591,312...2,600,534
Ensembl chr12:2,591,219...2,604,222
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Med12
mediator complex subunit 12
ISO
ClinVar Annotator: match by term: Squamous cell lung carcinoma
ClinVar
PMID:26619011
NCBI chr X:66,404,807...66,427,775
Ensembl chr X:66,404,760...66,428,387
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Met
MET proto-oncogene, receptor tyrosine kinase
ISO
ClinVar Annotator: match by term: Squamous cell lung carcinoma
ClinVar
NCBI chr 4:45,790,456...45,898,139
Ensembl chr 4:45,790,791...45,897,876
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Mir154
microRNA 154
ISO
associated with nicotine dependence; RNA:decreased expression:blood serum (human)
RGD
PMID:25386559
RGD:152995475
NCBI chr 6:128,752,947...128,753,030
Ensembl chr 6:128,752,947...128,753,030
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Mir193a
microRNA 193a
exacerbates
ISO
DNA:Hypermethylation
RGD
PMID:22282464
RGD:153344598
NCBI chr10:64,672,343...64,672,454
Ensembl chr10:64,672,343...64,672,454
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Mir20a
microRNA 20a
ISO
RGD
PMID:26560875
RGD:11572141
NCBI chr15:92,181,084...92,181,168
Ensembl chr15:92,181,084...92,181,168
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Mir210
microRNA 210
ISO
miRNA:increased expression:sputum (human)
RGD
PMID:27777637
RGD:152998954
NCBI chr 1:196,326,343...196,326,452
Ensembl chr 1:196,326,337...196,326,454
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Mir31
microRNA 31
severity
ISO
RNA:increased expression:blood serum (human) RNA:increased expression:lung (human)
RGD
PMID:21658006 PMID:21890451
RGD:152998938 , RGD:152998950
NCBI chr 5:103,599,038...103,599,143
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Mir497
microRNA 497
ISO
RGD
PMID:31115562
RGD:126925181
NCBI chr10:54,951,514...54,951,582
Ensembl chr10:54,951,505...54,951,584
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Mir9-3
microRNA 9-3
exacerbates
ISO
DNA:Hypermethylation
RGD
PMID:22282464
RGD:153344598
NCBI chr 1:133,440,049...133,440,138
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Nfe2l2
NFE2 like bZIP transcription factor 2
ISO
ClinVar Annotator: match by term: Squamous cell lung carcinoma
ClinVar
PMID:26619011 PMID:29018201
NCBI chr 3:60,594,239...60,621,712
Ensembl chr 3:60,594,242...60,621,737
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Pdgfra
platelet derived growth factor receptor alpha
ISO
ClinVar Annotator: match by term: Squamous cell lung carcinoma
ClinVar
PMID:24033266 PMID:25741868 PMID:28492532
NCBI chr14:33,005,838...33,054,347
Ensembl chr14:33,005,839...33,054,335
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Pik3ca
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
ISO
ClinVar Annotator: match by term: Squamous cell carcinoma of lung | ClinVar Annotator: match by term: Squamous cell lung carcinoma
ClinVar
PMID:15016963 PMID:15254419 PMID:15520168 PMID:15608678 PMID:15647370 PMID:15805248 PMID:15930273 PMID:16906227 PMID:16930767 PMID:17376864 PMID:17673550 PMID:18074223 PMID:18676830 PMID:18725974 PMID:19029981 PMID:19223544 PMID:19366826 PMID:19513541 PMID:19903786 PMID:20453058 PMID:20593314 PMID:20619739 PMID:21078999 PMID:21430269 PMID:21558396 PMID:21824802 PMID:22120714 PMID:22162582 PMID:22162589 PMID:22209294 PMID:22271473 PMID:22357840 PMID:22370636 PMID:22658544 PMID:22729222 PMID:22729223 PMID:22729224 PMID:22949682 PMID:23066039 PMID:23100325 PMID:23246288 PMID:23408298 PMID:23888070 PMID:23946963 PMID:24033266 PMID:24265155 PMID:24497998 PMID:24559322 PMID:24782230 PMID:25157968 PMID:25599672 PMID:25741868 PMID:25880439 PMID:26266975 PMID:26266985 PMID:26351730 PMID:26619011 PMID:26627007 PMID:26637981 PMID:26822237 PMID:26851524 PMID:27126994 PMID:27283355 PMID:27626068 PMID:27631024 PMID:28151489 PMID:28425981 PMID:28492532 PMID:28941273 PMID:29446767 PMID:29549527 PMID:29661094 PMID:29758562 PMID:29988677 PMID:30063105 PMID:30376034 PMID:30543347 PMID:31536475 PMID:31775759 PMID:32778138 PMID:34008892 PMID:34496175 PMID:37712948 More...
NCBI chr 2:115,175,275...115,249,034
Ensembl chr 2:115,174,984...115,249,032
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Pole
DNA polymerase epsilon, catalytic subunit
ameliorates
ISO
DNA:mutations:multiple (human)
RGD
PMID:29650000
RGD:151347653
NCBI chr12:46,345,420...46,393,984
Ensembl chr12:46,345,420...46,393,939
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Ppp6c
protein phosphatase 6, catalytic subunit
ISO
ClinVar Annotator: match by term: Squamous cell lung carcinoma
ClinVar
PMID:26619011
NCBI chr 3:22,929,816...22,962,123
Ensembl chr 3:22,931,577...22,962,113
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Prex2
phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2
ISO
mRNA:increased expression:lung (human)
RGD
PMID:32537022
RGD:151665184
NCBI chr 5:7,937,692...8,253,112
Ensembl chr 5:7,942,573...8,253,068
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Ptch1
patched 1
disease_progression
ISO
DNA:CNVs
RGD
PMID:21889114
RGD:150524337
NCBI chr17:1,542,705...1,607,730
Ensembl chr17:1,542,877...1,607,333
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Pten
phosphatase and tensin homolog
ISO
ClinVar Annotator: match by term: Squamous cell lung carcinoma
ClinVar
PMID:1945792 PMID:9467011 PMID:9915974 PMID:10866302 PMID:11051241 PMID:11504908 PMID:11875759 PMID:11948419 PMID:16773562 PMID:17526801 PMID:17942903 PMID:18767981 PMID:19457929 PMID:20085938 PMID:20300775 PMID:20301661 PMID:20926450 PMID:21190448 PMID:21194675 PMID:21659347 PMID:21822720 PMID:21824802 PMID:21828076 PMID:22266152 PMID:22320991 PMID:22327138 PMID:22595938 PMID:23335809 PMID:23361946 PMID:23399955 PMID:23470840 PMID:24292679 PMID:24778394 PMID:25157968 PMID:25527629 PMID:25741868 PMID:26619011 PMID:26798346 PMID:27477328 PMID:27535533 PMID:28475857 PMID:28492532 PMID:28677221 PMID:29359449 PMID:29706350 PMID:30311380 PMID:30528446 PMID:31159747 PMID:32350270 PMID:32442409 PMID:33077954 More...
NCBI chr 1:230,630,443...230,697,070
Ensembl chr 1:230,630,338...230,696,838
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Ptk2
protein tyrosine kinase 2
severity
ISO
RGD
PMID:23906871
RGD:152176664
NCBI chr 7:105,126,725...105,331,848
Ensembl chr 7:105,126,728...105,331,783
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Ptpn11
protein tyrosine phosphatase, non-receptor type 11
ISO
ClinVar Annotator: match by term: Squamous cell lung carcinoma
ClinVar
PMID:11704759 PMID:12634870 PMID:12717436 PMID:14644997 PMID:14974085 PMID:14982869 PMID:15385933 PMID:15710330 PMID:15834506 PMID:15842656 PMID:15928039 PMID:16358218 PMID:16518851 PMID:16830086 PMID:17177198 PMID:17942397 PMID:17972951 PMID:18470943 PMID:18559669 PMID:18678287 PMID:19047918 PMID:19179468 PMID:19509418 PMID:19798502 PMID:21901340 PMID:21930766 PMID:22190897 PMID:23756559 PMID:23825065 PMID:23832011 PMID:24033266 PMID:25097206 PMID:25395418 PMID:25741868 PMID:26619011 PMID:26783207 PMID:26822237 PMID:27069254 PMID:27276561 PMID:27783593 PMID:28098151 PMID:28492532 PMID:32561839 PMID:36349709 More...
NCBI chr12:35,365,436...35,424,925
Ensembl chr12:35,383,144...35,424,925
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Ptpn13
protein tyrosine phosphatase, non-receptor type 13
susceptibility severity
ISO
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 chr14:6,108,202...6,282,619
Ensembl chr14:6,108,211...6,282,563
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Ptprj
protein tyrosine phosphatase, receptor type, J
susceptibility
ISO
DNA:missense mutations:cds:p.R326Q, p.Q276P (human)
RGD
PMID:19672627
RGD:152176665
NCBI chr 3:76,405,917...76,561,842
Ensembl chr 3:76,405,927...76,562,260
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Rad52
RAD52 homolog, DNA repair protein
ameliorates susceptibility
ISO
DNA:SNP: (rs6489769) (human)
RGD
PMID:28415565 PMID:22585858
RGD:151660334 , RGD:151660345
NCBI chr 4:153,106,062...153,128,598
Ensembl chr 4:153,106,062...153,128,207
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Sftpb
surfactant protein B
susceptibility
ISO
DNA:polymorphism:intron (human) DNA:variants:intron:
RGD
PMID:16570259 PMID:12107845
RGD:4143389 , RGD:151667424
NCBI chr 4:104,359,303...104,368,439
Ensembl chr 4:104,359,396...104,368,436
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Slc7a5
solute carrier family 7 member 5
ISO
RGD
PMID:19068093
RGD:151361158
NCBI chr19:49,935,220...49,963,823
Ensembl chr19:49,935,220...49,963,823
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Sox30
SRY-box transcription factor 30
disease_progression
ISO
RGD
PMID:26330328
RGD:11535423
NCBI chr10:30,417,499...30,446,441
Ensembl chr10:30,418,473...30,446,453
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Src
SRC proto-oncogene, non-receptor tyrosine kinase
severity
ISO
RGD
PMID:12826049
RGD:150521546
NCBI chr 3:146,091,969...146,139,492
Ensembl chr 3:146,091,841...146,139,476
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Srsf1
serine and arginine rich splicing factor 1
ISO
protein:increased expression:lung epithelium
RGD
PMID:23071587
RGD:150429662
NCBI chr10:72,838,926...72,859,066
Ensembl chr10:72,839,274...72,845,336
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Srsf2
serine and arginine rich splicing factor 2
ISO
protein:increased expression:lung epithelium,nucleus
RGD
PMID:23071587
RGD:150429662
NCBI chr10:102,052,158...102,055,365
Ensembl chr10:102,052,314...102,055,338
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Stk11
serine/threonine kinase 11
ISO
ClinVar Annotator: match by term: Squamous cell lung carcinoma
ClinVar
PMID:15800014 PMID:17676035 PMID:19892943 PMID:25741868 PMID:28492532
NCBI chr 7:9,574,553...9,591,315
Ensembl chr 7:9,575,269...9,591,315
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Sult1a1
sulfotransferase family 1A member 1
ISO
DNA:SNP:exon:p.R213H, 638G>A (human)
RGD
PMID:14688021
RGD:1581441
NCBI chr 1:181,272,022...181,276,750
Ensembl chr 1:181,272,023...181,275,562
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Tert
telomerase reverse transcriptase
susceptibility
ISO
DNA:SNP:: rs2853669(human) DNA:SNP::rs33963617(human)
RGD
PMID:23908149 PMID:31935503
RGD:150530498 , RGD:150530635
NCBI chr 1:29,637,213...29,659,561
Ensembl chr 1:29,637,506...29,659,561
G
Tp53
tumor protein p53
ISO
ClinVar Annotator: match by term: Squamous cell lung carcinoma ClinVar Annotator: match by term: Squamous cell carcinoma of lung | ClinVar Annotator: match by term: Squamous cell lung carcinoma
ClinVar
PMID:124622 PMID:960674 PMID:1349175 PMID:1359493 PMID:1565143 PMID:1565144 PMID:1591732 PMID:1631137 PMID:1631151 PMID:1673792 PMID:1679237 PMID:1683921 PMID:1686725 PMID:1915267 PMID:1918170 PMID:1978757 PMID:2046748 PMID:2259385 PMID:2531845 PMID:2554494 PMID:2654466 PMID:3784963 PMID:4122735 PMID:6736287 PMID:7565304 PMID:7651740 PMID:7707106 PMID:7732013 PMID:7750099 PMID:7783166 PMID:7791795 PMID:7881428 PMID:7885831 PMID:7887414 PMID:8023157 PMID:8062826 PMID:8080050 PMID:8099841 PMID:8118819 PMID:8164043 PMID:8242631 PMID:8336941 PMID:8344492 PMID:8364550 PMID:8401536 PMID:8402598 PMID:8423216 PMID:8425176 PMID:8464896 PMID:8479749 PMID:8527048 PMID:8550239 PMID:8633021 PMID:8688334 PMID:8718514 PMID:8825920 PMID:8829627 PMID:8829653 PMID:8869100 PMID:9020384 PMID:9049183 PMID:9150393 PMID:9157982 PMID:9218725 PMID:9242456 PMID:9290701 PMID:9364015 PMID:9399838 PMID:9407971 PMID:9525742 PMID:9546439 PMID:9569050 PMID:9572492 PMID:9598730 PMID:9627118 PMID:9632751 PMID:9662334 PMID:9667734 PMID:9704930 PMID:9825943 PMID:9839505 PMID:9979965 PMID:10064694 PMID:10089074 PMID:10229196 PMID:10411893 PMID:10432928 PMID:10519380 PMID:10567903 PMID:10589545 PMID:10616528 PMID:10713666 PMID:10753186 PMID:10761705 PMID:10797439 PMID:10864200 PMID:10871862 PMID:10914716 PMID:10922393 PMID:10949938 PMID:11051239 PMID:11051241 PMID:11139324 PMID:11152481 PMID:11180592 PMID:11370630 PMID:11429705 PMID:11479205 PMID:11590071 PMID:11593407 PMID:11668501 PMID:11782540 PMID:11793474 PMID:11896595 PMID:11900253 PMID:11920788 PMID:11920959 PMID:12007217 PMID:12034820 PMID:12124823 PMID:12509279 PMID:12672316 PMID:12695689 PMID:12700230 PMID:12702523 PMID:12726864 PMID:12826609 PMID:12885464 PMID:12901974 PMID:12909720 PMID:12917626 PMID:14559903 PMID:14743206 PMID:15004724 PMID:15017592 PMID:15037740 PMID:15077194 PMID:15138567 PMID:15161705 PMID:15381368 PMID:15390294 PMID:15541116 PMID:15580553 PMID:15607980 PMID:15607981 PMID:15611505 PMID:15722483 PMID:15781620 PMID:15825182 PMID:15850016 PMID:15925506 PMID:15951970 PMID:15958617 PMID:15977174 PMID:15982667 PMID:15993273 PMID:16206219 PMID:16209708 PMID:16247456 PMID:16258005 PMID:16288208 PMID:16322298 PMID:16337994 PMID:16401470 PMID:16489069 PMID:16492679 PMID:16494995 PMID:16508005 PMID:16551709 PMID:16633321 PMID:16682957 PMID:16736287 PMID:16778209 PMID:16793544 PMID:16818505 PMID:16827139 PMID:16861262 PMID:17015838 PMID:17170001 PMID:17308077 PMID:17311302 PMID:17390010 PMID:17401428 PMID:17417627 PMID:17427234 PMID:17530187 PMID:17540308 PMID:17541742 PMID:17572079 PMID:17606709 PMID:17636407 PMID:17724467 PMID:17875924 PMID:17881637 PMID:18208484 PMID:18307025 PMID:18453682 PMID:18511570 PMID:18555592 PMID:18628487 PMID:18685109 PMID:18689542 PMID:18818522 PMID:18978813 PMID:18989156 PMID:19012332 PMID:19101993 PMID:19147582 PMID:19171880 PMID:19336573 PMID:19367569 PMID:19378321 PMID:19405127 PMID:19454241 PMID:19462533 PMID:19468865 PMID:19556618 PMID:19681600 PMID:19834951 PMID:19850740 PMID:19913028 PMID:19930417 PMID:20013323 PMID:20028212 PMID:20113312 PMID:20127978 PMID:20128691 PMID:20182602 PMID:20195489 PMID:20234365 PMID:20308654 PMID:20364130 PMID:20407015 PMID:20505364 PMID:20506564 PMID:20516128 PMID:20522432 PMID:20589832 PMID:20593220 PMID:20693561 PMID:20805372 PMID:20972454 PMID:21056685 PMID:21059199 PMID:21080251 PMID:21113594 PMID:21118481 PMID:21187651 PMID:21232794 PMID:21305319 PMID:21343334 PMID:21356188 PMID:21445056 PMID:21483000 PMID:21484931 PMID:21514416 PMID:21519010 PMID:21522129 PMID:21535297 PMID:21552135 PMID:21590121 PMID:21601526 PMID:21626334 PMID:21674059 PMID:21747090 PMID:21760960 PMID:21760996 PMID:21761402 PMID:22006311 PMID:22052707 PMID:22090360 PMID:22109999 PMID:22110706 PMID:22114072 PMID:22186996 PMID:22198284 PMID:22233476 PMID:22265402 PMID:22319594 PMID:22427690 PMID:22484423 PMID:22553421 PMID:22672556 PMID:22710932 PMID:22713868 PMID:22768918 PMID:22811390 PMID:22822097 PMID:22869713 PMID:22899716 PMID:22915647 PMID:22919068 PMID:22923379 PMID:22955915 PMID:22999923 PMID:23124483 PMID:23161690 PMID:23172776 PMID:23246812 PMID:23259501 PMID:23263379 PMID:23264849 PMID:23265383 PMID:23315175 PMID:23334668 PMID:23340422 PMID:23406775 PMID:23484829 PMID:23538418 PMID:23612969 PMID:23625637 PMID:23630318 PMID:23667202 PMID:23713777 PMID:23792586 PMID:23894400 PMID:23950206 PMID:24033266 PMID:24038938 PMID:24065105 PMID:24076587 PMID:24122735 PMID:24256616 PMID:24307375 PMID:24381225 PMID:24384472 PMID:24395441 PMID:24487413 PMID:24501221 PMID:24549055 PMID:24573247 PMID:24603336 PMID:24641375 PMID:24651012 PMID:24651015 PMID:24677579 PMID:24702488 PMID:24728327 PMID:24744791 PMID:24763289 PMID:24810334 PMID:24835218 PMID:24857548 PMID:24940547 PMID:25119136 PMID:25123297 PMID:25157968 PMID:25186627 PMID:25256166 PMID:25293557 PMID:25326637 PMID:25339994 PMID:25404506 PMID:25428789 PMID:25433984 PMID:25503501 PMID:25525159 PMID:25584008 PMID:25612911 PMID:25619955 PMID:25669829 PMID:25691460 PMID:25741868 PMID:25757876 PMID:25787918 PMID:25896519 PMID:25925845 PMID:25927356 PMID:25945745 PMID:25952993 PMID:25980754 PMID:26014290 PMID:26022348 PMID:26024390 PMID:26066407 PMID:26205489 PMID:26225655 PMID:26230955 PMID:26270727 PMID:26271412 PMID:26332594 PMID:26425688 PMID:26467025 PMID:26497680 PMID:26534844 PMID:26554828 PMID:26556299 PMID:26585234 PMID:26619011 PMID:26628864 PMID:26659639 PMID:26681312 PMID:26786923 PMID:26787237 PMID:26818906 PMID:26822237 PMID:26845104 PMID:26878390 PMID:26911350 PMID:26976419 PMID:27022024 PMID:27077130 PMID:27179933 PMID:27276561 PMID:27276934 PMID:27328919 PMID:27374712 PMID:27463065 PMID:27489289 PMID:27493922 PMID:27501770 PMID:27523101 PMID:27533082 PMID:27616075 PMID:27621308 PMID:27622479 PMID:27680515 PMID:27683180 PMID:27714481 PMID:27724982 PMID:27873457 PMID:27895058 PMID:27959731 PMID:27993330 PMID:28135145 PMID:28152038 PMID:28176830 PMID:28356770 PMID:28369373 PMID:28453743 PMID:28472496 PMID:28477316 PMID:28492532 PMID:28724667 PMID:28776571 PMID:28802053 PMID:28861920 PMID:28873162 PMID:28973705 PMID:28975465 PMID:29025599 PMID:29058119 PMID:29070607 PMID:29076966 PMID:29126202 PMID:29324801 PMID:29470806 PMID:29478780 PMID:29489754 PMID:29581140 PMID:29752822 PMID:29753700 PMID:29875428 PMID:29946497 PMID:29958926 PMID:29979965 PMID:30076369 PMID:30099178 PMID:30128536 PMID:30152528 PMID:30216591 PMID:30224644 PMID:30287823 PMID:30299350 PMID:30306255 PMID:30311369 PMID:30318520 PMID:30327374 PMID:30352134 PMID:30450585 PMID:30546832 PMID:30630526 PMID:30675318 PMID:30709381 PMID:30720243 PMID:30816478 PMID:30840781 PMID:30918304 PMID:31016814 PMID:31050713 PMID:31081129 PMID:31105275 PMID:31119730 PMID:31121848 PMID:31127191 PMID:31168460 PMID:31206626 PMID:31296311 PMID:31300551 PMID:31494577 PMID:31748977 PMID:31775759 PMID:31882575 PMID:32000721 PMID:32019277 PMID:32126783 PMID:32156018 PMID:32179180 PMID:32187361 PMID:32295079 PMID:32318955 PMID:32401780 PMID:32475984 PMID:32658383 PMID:32817165 PMID:32888145 PMID:32906206 PMID:32959997 PMID:32980694 PMID:33138793 PMID:33163847 PMID:33208383 PMID:33245408 PMID:33257846 PMID:33300245 PMID:33332384 PMID:33372952 PMID:33407742 PMID:33471991 PMID:33633026 PMID:33674644 PMID:33758026 PMID:33840814 PMID:34026625 PMID:34240179 PMID:34266904 PMID:34529667 PMID:34675114 PMID:34709361 PMID:34805717 PMID:35033608 PMID:35264596 PMID:35820297 PMID:35938033 PMID:35974385 PMID:36219266 PMID:36988593 More...
NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
G
Tp73
tumor protein p73
treatment
ISO
DNA:SNP:: rs2273953(human) mRNA:increased expression:lung (human)
RGD
PMID:30420492 PMID:27246533
RGD:151347580 , RGD:151347584
NCBI chr 5:164,621,377...164,703,958
Ensembl chr 5:164,621,377...164,681,128
G
Acvr1b
activin A receptor type 1B
ameliorates
ISO
RGD
PMID:30061637
RGD:151665492
NCBI chr 7:132,286,266...132,329,679
Ensembl chr 7:132,286,275...132,329,673
G
Ada
adenosine deaminase
treatment
ISO
RGD
PMID:17952507
RGD:152995277
NCBI chr 3:152,398,745...152,422,854
Ensembl chr 3:152,398,747...152,447,088
G
Adamts2
ADAM metallopeptidase with thrombospondin type 1 motif, 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26139392
NCBI chr10:34,920,992...35,126,465
Ensembl chr10:34,921,049...35,123,821
G
Ago1
argonaute RISC component 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25756049
NCBI chr 5:138,722,111...138,757,118
Ensembl chr 5:138,722,111...138,773,546
G
Ago2
argonaute RISC catalytic component 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25756049
NCBI chr 7:105,018,202...105,105,118
Ensembl chr 7:105,029,120...105,104,974
G
Anxa2
annexin A2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20682992
NCBI chr 8:70,105,268...70,141,663
Ensembl chr 8:70,105,253...70,141,658
G
Apoa1
apolipoprotein A1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23056237
NCBI chr 8:46,527,251...46,529,035
Ensembl chr 8:46,527,144...46,529,035
G
Bap1
Brca1 associated protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:24928783 PMID:25231345 PMID:26463840 PMID:26928227 PMID:29112861 PMID:24928783 More...
RGD:9586039
NCBI chr16:6,446,709...6,455,535
Ensembl chr16:6,446,709...6,455,535
G
Bcl10
BCL10, immune signaling adaptor
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Mesothelioma, malignant | ClinVar Annotator: match by term: Mesothelioma, somatic
OMIM CTD ClinVar
PMID:9989495 PMID:10380920 PMID:10408400 PMID:25741868 PMID:28492532
NCBI chr 2:234,840,880...234,850,520
Ensembl chr 2:234,840,858...234,850,523
G
Bcl2
BCL2, apoptosis regulator
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16850164
NCBI chr13:22,689,783...22,853,920
Ensembl chr13:22,684,989...22,853,743 Ensembl chr13:22,684,989...22,853,743
G
C9
complement C9
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23056237
NCBI chr 2:55,573,094...55,621,345
Ensembl chr 2:55,572,992...55,621,338
G
Calb2
calbindin 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22784439
NCBI chr19:38,114,435...38,141,438
Ensembl chr19:38,114,424...38,141,438
G
Ccl27
C-C motif chemokine ligand 27
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25162674
NCBI chr 5:56,941,402...56,948,511
Ensembl chr 5:56,941,402...56,948,506
G
Ccl3
C-C motif chemokine ligand 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25162674
NCBI chr10:68,451,388...68,452,938
Ensembl chr10:68,451,388...68,452,938
G
Ccl5
C-C motif chemokine ligand 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25162674
NCBI chr10:68,322,826...68,327,380
Ensembl chr10:68,322,829...68,327,377
G
Ccl7
C-C motif chemokine ligand 7
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25162674
NCBI chr10:67,016,446...67,018,296
Ensembl chr10:67,016,446...67,018,303
G
Ccne2
cyclin E2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25756049
NCBI chr 5:24,285,078...24,298,258
Ensembl chr 5:24,284,922...24,297,632
G
Cd40
CD40 molecule
treatment
ISO
RGD
PMID:22002241
RGD:11522742
NCBI chr 3:153,790,372...153,805,279
Ensembl chr 3:153,790,449...153,805,534
G
Cdh5
cadherin 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28377727
NCBI chr19:815,415...854,478
Ensembl chr19:815,411...854,368
G
Cdk6
cyclin-dependent kinase 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25756049
NCBI chr 4:30,637,650...30,829,688
Ensembl chr 4:30,646,460...30,829,634
G
Cdkn1a
cyclin-dependent kinase inhibitor 1A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11453316
NCBI chr20:7,149,177...7,159,727
Ensembl chr20:7,149,217...7,159,585
G
Cdkn2a
cyclin-dependent kinase inhibitor 2A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19223589 PMID:21526190 PMID:29112861
NCBI chr 5:103,984,949...103,992,143
Ensembl chr 5:103,984,949...104,003,149
G
Cfap45
cilia and flagella associated protein 45
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26928227
NCBI chr13:84,989,474...85,012,880
Ensembl chr13:84,981,728...85,012,878
G
Cldn10
claudin 10
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28377727
NCBI chr15:95,862,785...95,954,526
Ensembl chr15:95,862,760...95,954,526
G
Cldn15
claudin 15
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28377727
NCBI chr12:19,698,167...19,708,419
Ensembl chr12:19,698,337...19,706,819
G
Cldn4
claudin 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28377727
NCBI chr12:21,751,638...21,753,436
Ensembl chr12:21,751,331...21,753,436
G
Cldn5
claudin 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28377727
NCBI chr11:82,212,822...82,214,248
Ensembl chr11:82,211,475...82,214,992
G
Cldn8
claudin 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28377727
NCBI chr11:27,875,857...27,878,106
Ensembl chr11:27,875,692...27,878,513
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Clec11a
C-type lectin domain containing 11A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25162674
NCBI chr 1:94,800,456...94,809,002
Ensembl chr 1:94,801,496...94,804,633
G
Col12a1
collagen type XII alpha 1 chain
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25756049
NCBI chr 8:80,547,592...80,665,665
Ensembl chr 8:80,547,593...80,665,686
G
Copg1
COPI coat complex subunit gamma 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26463840
NCBI chr 4:120,366,540...120,392,502
Ensembl chr 4:120,366,542...120,415,616
G
Csf1
colony stimulating factor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25162674
NCBI chr 2:195,377,215...195,396,608
Ensembl chr 2:195,377,215...195,411,704
G
Ctnnb1
catenin beta 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22784439
NCBI chr 8:120,640,008...120,667,110
Ensembl chr 8:120,639,995...120,667,111
G
Cxcl12
C-X-C motif chemokine ligand 12
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25162674
NCBI chr 4:150,388,326...150,401,173
Ensembl chr 4:150,388,325...150,401,168
G
Cxcl13
C-X-C motif chemokine ligand 13
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23056237
NCBI chr14:13,608,894...13,613,965
Ensembl chr14:13,608,902...13,613,933
G
Cxcl9
C-X-C motif chemokine ligand 9
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25162674
NCBI chr14:15,722,868...15,727,779
Ensembl chr14:15,722,908...15,728,435
G
Ddx3x
DEAD-box helicase 3, X-linked
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26928227
NCBI chr X:9,479,532...9,493,169
Ensembl chr X:9,479,532...9,493,168
G
Ddx51
DEAD-box helicase 51
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26928227
NCBI chr12:46,011,303...46,015,989
Ensembl chr12:46,011,070...46,016,200
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Efemp1
EGF containing fibulin extracellular matrix protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27032653
NCBI chr14:102,610,813...102,690,027
Ensembl chr14:102,610,908...102,690,018
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Egfr
epidermal growth factor receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27032653
NCBI chr14:91,176,979...91,349,722
Ensembl chr14:91,177,067...91,344,382
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Enox2
ecto-NOX disulfide-thiol exchanger 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26807072
NCBI chr X:128,270,941...128,593,074
Ensembl chr X:128,271,074...128,593,039
G
Ephx1
epoxide hydrolase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16697254
NCBI chr13:92,714,315...92,744,105
Ensembl chr13:92,714,315...92,790,235
G
F9
coagulation factor IX
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23056237
NCBI chr X:138,352,334...138,396,835
Ensembl chr X:138,352,298...138,396,835
G
Fgd6
FYVE, RhoGEF and PH domain containing 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25756049
NCBI chr 7:28,597,609...28,712,908
Ensembl chr 7:28,597,609...28,712,456
G
Fgf18
fibroblast growth factor 18
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25756049
NCBI chr10:17,706,011...17,737,702
Ensembl chr10:17,706,174...17,736,818
G
Fgf9
fibroblast growth factor 9
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25756049
NCBI chr15:32,208,993...32,254,952
Ensembl chr15:32,210,074...32,253,309
G
Fn1
fibronectin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23056237
NCBI chr 9:73,196,044...73,264,695
Ensembl chr 9:73,196,044...73,264,678
G
Fth1
ferritin heavy chain 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26818092
NCBI chr 1:206,627,142...206,629,430
Ensembl chr 1:206,627,103...206,725,424
G
Gpr27
G protein-coupled receptor 27
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25756049
NCBI chr 4:132,328,364...132,329,497
Ensembl chr 4:132,328,364...132,329,497
G
Gpr37
G protein-coupled receptor 37
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25756049
NCBI chr 4:54,138,860...54,160,927
Ensembl chr 4:54,138,870...54,161,001
G
Gstm1
glutathione S-transferase mu 1
ISO
DNA:deletion:cds (human) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:16697254 PMID:7606714
RGD:7495814
NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411
G
Hdac4
histone deacetylase 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25756049
NCBI chr 9:92,503,467...92,750,164
Ensembl chr 9:92,507,611...92,750,164
G
Heph
hephaestin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26818092
NCBI chr X:61,151,131...61,402,980
Ensembl chr X:61,296,345...61,402,980
G
Hgf
hepatocyte growth factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25162674
NCBI chr 4:18,673,736...18,745,582
Ensembl chr 4:18,677,101...18,745,409
G
Htra1
HtrA serine peptidase 1
disease_progression
ISO
protein:increased expression:mesothelium (human)
RGD
PMID:18681782
RGD:152975625
NCBI chr 1:185,497,815...185,547,380
Ensembl chr 1:185,497,735...185,547,379
G
Icam2
intercellular adhesion molecule 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23056237
NCBI chr10:91,308,608...91,319,536
Ensembl chr10:91,308,538...91,315,293
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Ifng
interferon gamma
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25162674
NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375
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Igf2bp3
insulin-like growth factor 2 mRNA binding protein 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23621518
NCBI chr 4:78,060,494...78,195,007
Ensembl chr 4:78,060,494...78,194,865
G
Il12b
interleukin 12B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25162674
NCBI chr10:28,888,832...28,903,802
Ensembl chr10:28,893,008...28,902,903
G
Il1a
interleukin 1 alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25162674
NCBI chr 3:116,526,601...116,537,055
Ensembl chr 3:116,526,604...116,536,822
G
Il2ra
interleukin 2 receptor subunit alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25162674
NCBI chr17:66,849,974...66,898,665
Ensembl chr17:66,849,974...66,898,697
G
Il3
interleukin 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25162674
NCBI chr10:38,405,716...38,408,066
Ensembl chr10:38,405,716...38,408,066
G
Il4
interleukin 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25162674
NCBI chr10:37,771,203...37,776,750
Ensembl chr10:37,771,203...37,776,750
G
Il6
interleukin 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25162674
NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
G
Ilk
integrin-linked kinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23045294
NCBI chr 1:160,088,839...160,095,140
Ensembl chr 1:160,088,897...160,095,140
G
Kat5
lysine acetyltransferase 5
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:26780987
NCBI chr 1:202,895,751...202,903,178
Ensembl chr 1:202,895,751...202,903,458
G
Kit
KIT proto-oncogene receptor tyrosine kinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23056237
NCBI chr14:32,547,459...32,624,694
Ensembl chr14:32,548,877...32,624,652
G
Limch1
LIM and calponin homology domains 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25756049
NCBI chr14:41,112,579...41,425,001
Ensembl chr14:41,114,803...41,425,191
G
Lta
lymphotoxin alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25162674
NCBI chr20:3,618,853...3,621,324
Ensembl chr20:3,618,853...3,620,859
G
Mcam
melanoma cell adhesion molecule
disease_progression
IEP ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:22784439 PMID:23621518 PMID:23621518
RGD:7364782
NCBI chr 8:44,479,391...44,487,575
Ensembl chr 8:44,479,376...44,487,571
G
Mdk
midkine
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23056237
NCBI chr 3:77,901,134...77,903,997
Ensembl chr 3:77,901,158...77,903,130
G
Met
MET proto-oncogene, receptor tyrosine kinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25756049
NCBI chr 4:45,790,456...45,898,139
Ensembl chr 4:45,790,791...45,897,876
G
Mif
macrophage migration inhibitory factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25162674
NCBI chr20:12,790,919...12,791,784
Ensembl chr20:12,790,902...12,799,504
G
Mir125a
microRNA 125a
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25756049
NCBI chr 1:58,677,626...58,677,710
Ensembl chr 1:58,677,626...58,677,710
G
Mir126a
microRNA 126a
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21483773
NCBI chr 3:9,415,063...9,415,180
Ensembl chr 3:9,415,063...9,415,180
G
Mir32
microRNA 32
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27716620
NCBI chr 5:71,596,083...71,596,152
Ensembl chr 5:71,596,083...71,596,152
G
Mir484
microRNA 484
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25756049
NCBI chr10:887,684...887,760
Ensembl chr10:887,684...887,760
G
Mlana
melan-A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22784439
NCBI chr 1:227,469,537...227,483,343
Ensembl chr 1:227,469,537...227,483,343
G
Msln
mesothelin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19190155 PMID:27032653
NCBI chr10:14,771,946...14,781,382
Ensembl chr10:14,771,961...14,777,643
G
Mtmr4
myotubularin related protein 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25756049
NCBI chr10:72,393,411...72,416,342
Ensembl chr10:72,392,551...72,416,342
G
Muc1
mucin 1, cell surface associated
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22784439
NCBI chr 2:174,635,989...174,640,738
Ensembl chr 2:174,635,995...174,640,733
G
Nanos1
nanos C2HC-type zinc finger 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25756049
NCBI chr 1:259,897,663...259,901,561
Ensembl chr 1:259,897,939...259,898,730
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Nat2
N-acetyltransferase 2
susceptibility
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:16697254 PMID:15993904
RGD:5131858
NCBI chr16:22,207,362...22,238,513
Ensembl chr16:22,208,194...22,238,520
G
Nf2
NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor
disease_progression
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:23435014 PMID:26463840 PMID:26678224 PMID:26928227 PMID:29112861 PMID:16166281 PMID:32271879 More...
RGD:150530640 , RGD:150530636
NCBI chr14:79,627,399...79,710,709
Ensembl chr14:79,627,399...79,710,667
G
Ngf
nerve growth factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25162674
NCBI chr 2:189,901,058...189,954,452
Ensembl chr 2:189,901,058...189,954,452
G
Osmr
oncostatin M receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25756049
NCBI chr 2:55,907,119...55,961,373
Ensembl chr 2:55,907,132...55,961,262
G
Parp1
poly (ADP-ribose) polymerase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21543585
NCBI chr13:92,307,593...92,339,406
Ensembl chr13:92,307,586...92,339,404
G
Pdpn
podoplanin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22784439
NCBI chr 5:155,601,691...155,635,656
Ensembl chr 5:155,601,691...155,635,656
G
Pllp
plasmolipin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25756049
NCBI chr19:10,315,104...10,335,892
Ensembl chr19:10,315,104...10,335,892
G
Ptprf
protein tyrosine phosphatase, receptor type, F
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25756049
NCBI chr 5:131,741,959...131,824,000
Ensembl chr 5:131,742,754...131,810,023
G
Pycard
PYD and CARD domain containing
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26935421
NCBI chr 1:182,601,657...182,603,013
Ensembl chr 1:182,601,174...182,602,955
G
Raf1
Raf-1 proto-oncogene, serine/threonine kinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25756049
NCBI chr 4:148,679,534...148,740,265
Ensembl chr 4:148,679,530...148,740,317
G
Rxra
retinoid X receptor alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25756049
NCBI chr 3:10,989,832...11,076,366
Ensembl chr 3:10,989,832...11,073,712
G
Ryr2
ryanodine receptor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26928227
NCBI chr17:58,389,925...58,975,641
Ensembl chr17:58,389,925...58,975,142
G
S100b
S100 calcium binding protein B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28377727
NCBI chr20:12,372,866...12,381,619
Ensembl chr20:12,372,881...12,394,743
G
Sdc1
syndecan 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27032653
NCBI chr 6:31,562,799...31,585,267
Ensembl chr 6:31,562,739...31,585,264
G
Sema4f
ssemaphorin 4F
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25756049
NCBI chr 4:115,411,411...115,437,721
Ensembl chr 4:115,411,417...115,437,721
G
Serpina4
serpin family A member 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23056237
NCBI chr 6:122,999,970...123,009,083
Ensembl chr 6:122,999,900...123,009,082
G
Setd2
SET domain containing 2, histone lysine methyltransferase
ISO
CTD Direct Evidence: marker/mechanism DNA:mutations:multiple (human)
CTD RGD
PMID:26928227 PMID:27834213
RGD:150429641
NCBI chr 8:110,511,808...110,597,475
Ensembl chr 8:110,511,772...110,597,489
G
Setdb1
SET domain bifurcated histone lysine methyltransferase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26928227
NCBI chr 2:182,898,738...182,930,283
Ensembl chr 2:182,898,738...182,930,506
G
Sf3b1
splicing factor 3b, subunit 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26928227
NCBI chr 9:56,492,403...56,532,300
Ensembl chr 9:56,492,403...56,532,300
G
Shbg
sex hormone binding globulin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28377727
NCBI chr10:54,332,939...54,350,409
Ensembl chr10:54,332,941...54,351,057
G
Slc22a5
solute carrier family 22 member 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25756049
NCBI chr10:38,008,303...38,035,474
Ensembl chr10:38,008,311...38,035,309
G
Slc2a1
solute carrier family 2 member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22784439
NCBI chr 5:132,717,196...132,745,416
Ensembl chr 5:132,717,196...132,745,416
G
Smarca2
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25756049
NCBI chr 1:224,191,125...224,358,640
Ensembl chr 1:224,191,125...224,358,684
G
Sod2
superoxide dismutase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20617513
NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189
G
Tbl1xr1
TBL1X/Y related 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25756049
NCBI chr 2:104,788,950...104,929,055
Ensembl chr 2:104,801,721...104,929,055
G
Tf
transferrin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26818092
NCBI chr 8:103,789,780...103,816,487
Ensembl chr 8:103,767,995...103,816,511
G
Tfdp2
transcription factor Dp-2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25756049
NCBI chr 8:96,760,459...96,901,466
Ensembl chr 8:96,760,504...96,896,682
G
Tgfb2
transforming growth factor, beta 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25756049
NCBI chr13:98,160,075...98,261,771
Ensembl chr13:98,160,087...98,261,405
G
Tnfrsf8
TNF receptor superfamily member 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23056237
NCBI chr 5:157,123,183...157,168,421
Ensembl chr 5:157,123,185...157,168,421
G
Tp53
tumor protein p53
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26928227
NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
G
Traf7
TNF receptor associated factor 7
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26928227
NCBI chr10:13,533,570...13,552,290
Ensembl chr10:13,533,570...13,552,203
G
Txn1
thioredoxin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27032653
NCBI chr 5:72,712,334...72,724,564
Ensembl chr 5:72,711,933...72,724,629
G
Ulk2
unc-51 like autophagy activating kinase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26928227
NCBI chr10:46,451,578...46,530,462
Ensembl chr10:46,454,030...46,530,407
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Vim
vimentin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22784439
NCBI chr17:76,668,701...76,677,186
Ensembl chr17:76,668,647...76,677,187
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Wnt3
Wnt family member 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25756049
NCBI chr10:88,680,198...88,724,170
Ensembl chr10:88,680,248...88,724,099
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Wt1
WT1 transcription factor
ISO
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:7795587 PMID:8295405 PMID:9090524 PMID:9398852 PMID:9499425 PMID:9529364 PMID:9536098 PMID:9607189 PMID:9745866 PMID:10470095 PMID:10505700 PMID:10762296 PMID:11182928 PMID:12970737 PMID:15150775 PMID:15509792 PMID:17496156 PMID:17541636 PMID:17576681 PMID:17694336 PMID:17853480 PMID:20442690 PMID:21499692 PMID:21508141 PMID:22099579 PMID:22784439 PMID:23295293 PMID:23497137 PMID:23515051 PMID:23715653 PMID:23935527 PMID:24033266 PMID:24856380 PMID:25501161 PMID:25741868 PMID:25818337 PMID:26069768 PMID:26248470 PMID:26467025 PMID:27013732 PMID:27719739 PMID:27899157 PMID:28204945 PMID:28492532 PMID:28780565 PMID:29474669 PMID:30406062 PMID:30963316 PMID:32352694 PMID:32581362 PMID:32604935 PMID:34490048 More...
NCBI chr 3:91,566,540...91,613,653
Ensembl chr 3:91,567,001...91,613,643
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Wwc1
WW and C2 domain containing 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25756049
NCBI chr10:20,300,735...20,454,393
Ensembl chr10:20,300,833...20,454,497
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Xrcc1
X-ray repair cross complementing 1
treatment
ISO
RGD
PMID:22982660
RGD:151347428
NCBI chr 1:80,140,495...80,168,705
Ensembl chr 1:80,141,207...80,168,701
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Bap1
Brca1 associated protein 1
disease_progression
ISO
RGD
PMID:27422796
RGD:127229946
NCBI chr16:6,446,709...6,455,535
Ensembl chr16:6,446,709...6,455,535
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Birc5
baculoviral IAP repeat-containing 5
exacerbates
ISO
mRNA:increased expression:pleura, lung (human)
RGD
PMID:17253596
RGD:153344528
NCBI chr10:103,072,530...103,081,382
Ensembl chr10:103,073,408...103,081,380
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Birc7
baculoviral IAP repeat-containing 7
ameliorates
ISO
mRNA:increased expression:pleura, lung (human)
RGD
PMID:17253596
RGD:153344528
NCBI chr 3:168,047,824...168,052,606
Ensembl chr 3:168,047,824...168,052,606
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Chrna7
cholinergic receptor nicotinic alpha 7 subunit
ameliorates
ISO
RGD
PMID:18722110
RGD:151667912
NCBI chr 1:116,711,559...116,837,269
Ensembl chr 1:116,714,711...116,837,240
G
Csf1r
colony stimulating factor 1 receptor
ISO
mRNA:increased expression:peritoneum�� (human)
RGD
PMID:24722292
RGD:150524278
NCBI chr18:54,546,673...54,590,418
Ensembl chr18:54,546,659...54,590,415
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Emx2
empty spiracles homeobox 2
exacerbates
ISO
mRNA:decreased expression:mesothelium of pleural cavity (human)
RGD
PMID:25023662
RGD:153323312
NCBI chr 1:258,626,584...258,633,594
Ensembl chr 1:258,626,584...258,633,594
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Ezh2
enhancer of zeste 2 polycomb repressive complex 2 subunit
disease_progression
ISO
mRNA, protein:increased expression:pleura
RGD
PMID:22028491
RGD:126781718
NCBI chr 4:76,624,399...76,687,362
Ensembl chr 4:76,624,399...76,687,362
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Il7r
interleukin 7 receptor
disease_progression
ISO
RGD
PMID:26155428
RGD:151347688
NCBI chr 2:58,452,393...58,477,757
Ensembl chr 2:58,454,217...58,477,757
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Kdm6a
lysine demethylase 6A
ISO
mRNA:increased expression:mesothelium of pleural cavity (human)
RGD
PMID:28197626
RGD:150429737
NCBI chr X:4,337,466...4,477,100
Ensembl chr X:4,337,750...4,477,062
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Mir192
microRNA 192
ISO
miRNA:decreased expression:pleura (human)
RGD
PMID:26125439
RGD:11529530
NCBI chr 1:203,564,946...203,565,055
Ensembl chr 1:203,564,946...203,565,055
G
Mir193a
microRNA 193a
ISO
miRNA:decreased expression:pleura (human)
RGD
PMID:26125439
RGD:11529530
NCBI chr10:64,672,343...64,672,454
Ensembl chr10:64,672,343...64,672,454
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Mir200b
microRNA 200b
ISO
miRNA:decreased expression:pleura (human)
RGD
PMID:26125439
RGD:11529530
NCBI chr 5:166,649,272...166,649,366
Ensembl chr 5:166,649,272...166,649,366
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Mlh1
mutL homolog 1
disease_progression
ISO
RGD
PMID:23810210
RGD:126848799
NCBI chr 8:111,196,468...111,233,721
Ensembl chr 8:111,196,468...111,233,617
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Ncoa2
nuclear receptor coactivator 2
ameliorates
ISO
protein:increased expression:mesothelium of pleural cavity (human)
RGD
PMID:22011668
RGD:153002578
NCBI chr 5:5,835,642...6,069,693
Ensembl chr 5:5,835,706...6,067,451
G
Nf2
NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor
disease_progression
ISO
DNA:loss of heterozygosity
RGD
PMID:27378628 PMID:26928227 PMID:26493618
RGD:150530638 , RGD:150429647 , RGD:11553131
NCBI chr14:79,627,399...79,710,709
Ensembl chr14:79,627,399...79,710,667
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Rad21
RAD21 cohesin complex component
ISO
RGD
PMID:19380173
RGD:150520037
NCBI chr 7:83,287,867...83,314,810
Ensembl chr 7:83,287,870...83,314,817
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Setd2
SET domain containing 2, histone lysine methyltransferase
disease_progression
ISO
DNA:mutations:CDS:multiple (human)
RGD
PMID:26928227 PMID:33691361
RGD:150429647 , RGD:150520202
NCBI chr 8:110,511,808...110,597,475
Ensembl chr 8:110,511,772...110,597,489
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Slc7a5
solute carrier family 7 member 5
disease_progression
ISO
protein:increased expression:pleura
RGD
PMID:22199264 PMID:24912849
RGD:151361201 , RGD:151660330
NCBI chr19:49,935,220...49,963,823
Ensembl chr19:49,935,220...49,963,823
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Smo
smoothened, frizzled class receptor
disease_progression
ISO
DNA:missense mutations
RGD
PMID:23379358 PMID:33209614
RGD:150521620 , RGD:150521621
NCBI chr 4:58,343,626...58,373,823
Ensembl chr 4:58,343,529...58,373,829
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Xiap
X-linked inhibitor of apoptosis
ameliorates
ISO
mRNA:increased expression:pleura, lung (human)
RGD
PMID:17253596
RGD:153344528
NCBI chr X:120,890,537...120,938,413
Ensembl chr X:120,897,907...120,934,700
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Cdkn1a
cyclin-dependent kinase inhibitor 1A
ISO
RGD
PMID:15040115
RGD:8662355
NCBI chr20:7,149,177...7,159,727
Ensembl chr20:7,149,217...7,159,585
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Nlrp1a
NLR family, pyrin domain containing 1A
ISO
ClinVar Annotator: match by term: Palmoplantar carcinoma, multiple self-healing CTD Direct Evidence: marker/mechanism
ClinVar CTD OMIM
PMID:17377159 PMID:23349227 PMID:24033266 PMID:25050600 PMID:25741868 PMID:27662089 PMID:28492532 More...
NCBI chr10:55,778,560...55,833,639
Ensembl chr10:55,778,560...55,825,180
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Abl1
ABL proto-oncogene 1, non-receptor tyrosine kinase
severity
ISO
DNA:mutations
RGD
PMID:16676365
RGD:126925209
NCBI chr 3:14,979,853...15,083,065
Ensembl chr 3:14,979,853...15,083,065
G
Ada
adenosine deaminase
disease_progression
ISO
RGD
PMID:27221867
RGD:152995268
NCBI chr 3:152,398,745...152,422,854
Ensembl chr 3:152,398,747...152,447,088
G
Agap2
ArfGAP with GTPase domain, ankyrin repeat and PH domain 2
disease_progression
ISO
RGD
PMID:26464646
RGD:11526681
NCBI chr 7:62,897,282...62,914,295
Ensembl chr 7:62,897,282...62,914,295
G
Angpt1
angiopoietin 1
ISO
protein:decreased expression:oral mucosa (human)
RGD
PMID:26044849
RGD:153323290
NCBI chr 7:73,528,345...73,783,953
Ensembl chr 7:73,531,486...73,784,067
G
Angpt2
angiopoietin 2
ISO
protein:increased expression:oral mucosa (human)
RGD
PMID:26044849
RGD:153323290
NCBI chr16:71,088,364...71,138,805
Ensembl chr16:71,088,364...71,138,804
G
Arid2
AT-rich interaction domain 2
disease_progression
ISO
RGD
PMID:31918270
RGD:150340710
NCBI chr 7:127,447,192...127,565,987
Ensembl chr 7:127,447,278...127,563,512
G
Arpc1b
actin related protein 2/3 complex, subunit 1B
severity
ISO
protein:increased expression:oral mucosa (human)
RGD
PMID:26138391
RGD:11046268
NCBI chr12:9,482,176...9,495,772
Ensembl chr12:9,480,831...9,495,747
G
Atm
ATM serine/threonine kinase
disease_progression
ISO
protein:increased expression:mucosa of oral region (human)
RGD
PMID:29928356 PMID:18288488
RGD:150340604 , RGD:150340709
NCBI chr 8:53,828,741...53,932,773
Ensembl chr 8:53,831,093...53,932,437
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Atp6v1c1
ATPase H+ transporting V1 subunit C1
ISO
RGD
PMID:26984774
RGD:14700648
NCBI chr 7:69,834,464...69,872,278
Ensembl chr 7:69,834,463...69,872,278
G
Axin1
axin 1
disease_progression
ISO
protein:decreased expression:oral epithelium (human) mRNA:increased expression:oral epithelium (human)
RGD
PMID:17143481 PMID:21393552
RGD:150530474 , RGD:150530486
NCBI chr10:15,163,477...15,215,615
Ensembl chr10:15,163,684...15,215,615
G
Axin2
axin 2
susceptibility ameliorates disease_progression
ISO
DNA:SNP:intron: C>T (rs3923087)(human)
RGD
PMID:21393552 PMID:33046030 PMID:33046030
RGD:150530486 , RGD:151356656 , RGD:151356656
NCBI chr10:93,893,830...93,927,042
Ensembl chr10:93,899,245...93,926,231
G
Azgp1
alpha-2-glycoprotein 1, zinc-binding
ISO
protein:increased expression:saliva protein:decreased expression:saliva
RGD
PMID:29199150 PMID:33564003
RGD:153350131 , RGD:153350144
NCBI chr12:16,930,990...16,939,333
Ensembl chr12:16,931,024...16,939,091
G
Barhl2
BarH-like homeobox 2
ISO
protein:decreased expression:mouth mucosa
RGD
PMID:27542258
RGD:14390167
NCBI chr14:3,340,465...3,345,362
Ensembl chr14:3,340,465...3,345,353
G
Bcl2l1
Bcl2-like 1
ISO
mRNA, protein:increased expression:mouth (human)
RGD
PMID:34111459
RGD:153344573
NCBI chr 3:141,253,508...141,304,582
Ensembl chr 3:141,253,523...141,303,479
G
Bhlhe41
basic helix-loop-helix family, member e41
treatment
ISO
Human cells in mouse model
RGD
PMID:27602964
RGD:151665310
NCBI chr 4:178,834,264...178,838,618
Ensembl chr 4:178,834,271...178,838,468
G
Birc2
baculoviral IAP repeat-containing 2
ISO
protein:increased expression:oral cavity (human)
RGD
PMID:20967871
RGD:152999012
NCBI chr 8:4,968,856...4,989,325
Ensembl chr 8:4,968,842...4,988,732
G
Birc3
baculoviral IAP repeat-containing 3
disease_progression ameliorates
ISO
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 chr 8:5,000,844...5,028,470
Ensembl chr 8:5,000,845...5,015,802
G
Birc5
baculoviral IAP repeat-containing 5
ISO
protein:increased expression:oral cavity (human)
RGD
PMID:20967871
RGD:152999012
NCBI chr10:103,072,530...103,081,382
Ensembl chr10:103,073,408...103,081,380
G
Brinp2
BMP/retinoic acid inducible neural specific 2
ISO
DNA:amplication:oral epithelium
RGD
PMID:21334929
RGD:14398483
NCBI chr13:70,431,006...70,532,766
Ensembl chr13:70,431,010...70,531,810
G
Bst2
bone marrow stromal cell antigen 2
disease_progression
ISO
RGD
PMID:24706327
RGD:14398491
NCBI chr16:18,216,605...18,220,979
Ensembl chr16:18,217,407...18,220,979
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Btk
Bruton tyrosine kinase
treatment
ISO
mRNA:increased expression:oral epithelium (human)
RGD
PMID:33640903
RGD:151347851
NCBI chr X:97,722,796...97,762,315
Ensembl chr X:97,722,802...97,761,853
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Calr
calreticulin
exacerbates
ISO
protein:increased expression:oral epithelium (human) protein:increased expression:mouth (human)
RGD
PMID:23375593 PMID:28599487
RGD:150521688 , RGD:150520158
NCBI chr19:23,308,525...23,313,420
Ensembl chr19:23,308,351...23,313,414
G
Camk2n1
calcium/calmodulin-dependent protein kinase II inhibitor 1
ISO
RGD
PMID:30205384
RGD:18337270
NCBI chr 5:150,674,819...150,676,600
Ensembl chr 5:150,673,507...150,676,600
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Car12
carbonic anhydrase 12
disease_progression
ISO
RGD
PMID:22172588
RGD:153352330
NCBI chr 8:67,274,739...67,330,428
Ensembl chr 8:67,274,359...67,330,440
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Cbx2
chromobox 2
disease_progression
ISO
RGD
PMID:24885002
RGD:9586732
NCBI chr10:104,278,517...104,287,384
Ensembl chr10:104,278,549...104,287,383
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Ccl2
C-C motif chemokine ligand 2
susceptibility disease_progression
ISO IEP
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 chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226
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Ccr2
C-C motif chemokine receptor 2
susceptibility
ISO
DNA:polymorphism,haplotype:cds:p.V64I(human)
RGD
PMID:21883707
RGD:8661694
NCBI chr 8:123,734,465...123,742,483
Ensembl chr 8:123,734,430...123,742,100
G
Cdc73
cell division cycle 73
ISO
mRNA:altered expression: tongue, oral cavity (human)
RGD
PMID:24257751
RGD:150537040
NCBI chr13:55,357,226...55,449,690
Ensembl chr13:55,357,226...55,449,656
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Cdh1
cadherin 1
disease_progression
ISO
RGD
PMID:26464646
RGD:11526681
NCBI chr19:34,492,371...34,561,775
Ensembl chr19:34,492,371...34,561,775
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Cdkn1a
cyclin-dependent kinase inhibitor 1A
susceptibility no_association disease_progression
ISO
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 chr20:7,149,177...7,159,727
Ensembl chr20:7,149,217...7,159,585
G
Cers1
ceramide synthase 1
exacerbates
ISO
RGD
PMID:33753723
RGD:156431057
NCBI chr16:19,097,309...19,112,519
Ensembl chr16:19,104,466...19,112,519
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Chaf1b
chromatin assembly factor 1 subunit B
disease_progression
ISO
protein:increased expression:mouth mucosa:
RGD
PMID:22882088
RGD:9587477
NCBI chr11:33,200,894...33,221,076
Ensembl chr11:33,200,981...33,221,070
G
Clptm1l
CLPTM1-like
susceptibility
ISO
DNA:SNP: :rs402710(human)
RGD
PMID:28025427
RGD:150530487
NCBI chr 1:29,667,545...29,683,530
Ensembl chr 1:29,667,545...29,683,530
G
Ctnnd1
catenin delta 1
disease_progression
ISO
RGD
PMID:26464646
RGD:11526681
NCBI chr 3:69,683,328...69,734,550
Ensembl chr 3:69,683,313...69,734,516
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Cyp1a1
cytochrome P450, family 1, subfamily a, polypeptide 1
ISO
RGD
PMID:22660220
RGD:14700952
NCBI chr 8:58,096,021...58,102,130
Ensembl chr 8:58,096,077...58,102,125
G
Cyp24a1
cytochrome P450, family 24, subfamily a, polypeptide 1
susceptibility
ISO
DNA:SNP:exon: (rs2296241) (human)
RGD
PMID:22612324
RGD:151665337
NCBI chr 3:159,275,947...159,290,383
Ensembl chr 3:159,275,947...159,290,383
G
Cyp2e1
cytochrome P450, family 2, subfamily e, polypeptide 1
ISO
RGD
PMID:22954124
RGD:14700880
NCBI chr 1:195,840,330...195,850,728
Ensembl chr 1:195,840,058...195,864,023
G
Daxx
death-domain associated protein
ameliorates
ISO
human cell line in a mouse model
RGD
PMID:26205068
RGD:152025200
NCBI chr20:4,970,090...4,976,145
Ensembl chr20:4,970,092...4,975,843
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Ddr1
discoidin domain receptor tyrosine kinase 1
ISO
mRNA, protein:increased expression:mouth (human)
RGD
PMID:31253192
RGD:151347620
NCBI chr20:3,042,494...3,064,442
Ensembl chr20:3,044,320...3,064,468
G
Ddr2
discoidin domain receptor tyrosine kinase 2
severity
ISO
RGD
PMID:29945346
RGD:150429700
NCBI chr13:82,193,623...82,318,229
Ensembl chr13:82,195,463...82,317,363
G
Dnmt3b
DNA methyltransferase 3 beta
disease_progression
ISO
RGD
PMID:24625449 PMID:24625449
RGD:9589120 , RGD:9589120
NCBI chr 3:142,130,588...142,169,128
Ensembl chr 3:142,130,592...142,169,124
G
Dock6
dedicator of cytokinesis 6
disease_progression
ISO
RGD
PMID:34742001
RGD:155791563
NCBI chr 8:20,342,430...20,394,660
Ensembl chr 8:20,342,089...20,394,552
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Efnb2
ephrin B2
ISO
protein:increased expression:oral mucosa (human)
RGD
PMID:26044849
RGD:153323290
NCBI chr16:80,783,389...80,827,420
Ensembl chr16:80,783,417...80,824,391
G
Egfr
epidermal growth factor receptor
ISO
RGD
PMID:11673832
RGD:126781761
NCBI chr14:91,176,979...91,349,722
Ensembl chr14:91,177,067...91,344,382
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Erbb2
erb-b2 receptor tyrosine kinase 2
ISO
RGD
PMID:11673832
RGD:126781761
NCBI chr10:83,411,197...83,435,078
Ensembl chr10:83,411,313...83,435,078
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Erbb4
erb-b2 receptor tyrosine kinase 4
disease_progression
ISO
RGD
PMID:14595263
RGD:126781770
NCBI chr 9:69,523,733...70,596,743
Ensembl chr 9:69,531,481...70,596,595
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Ezh2
enhancer of zeste 2 polycomb repressive complex 2 subunit
susceptibility
ISO
associated with oral mucosa leukoplakia DNA:SNPs, haplotypes: :multiple
RGD
PMID:24122997 PMID:21697275 PMID:26807327
RGD:126779588 , RGD:126781699 , RGD:126779606
NCBI chr 4:76,624,399...76,687,362
Ensembl chr 4:76,624,399...76,687,362
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Fat1
FAT atypical cadherin 1
onset
ISO
protein:increased expression:tongue (mouse) DNA:mutations:multiple
RGD
PMID:30624777 PMID:28435450
RGD:151347668 , RGD:151347687
NCBI chr16:47,177,253...47,296,261
Ensembl chr16:47,177,248...47,296,107
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Fgfr3
fibroblast growth factor receptor 3
ISO
associated with human papillomavirus;DNA:missense mutation:cds: p.S249C (human)
RGD
PMID:30563911
RGD:38500239
NCBI chr14:76,987,242...77,002,671
Ensembl chr14:76,987,993...77,003,341
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Fgfr4
fibroblast growth factor receptor 4
severity
ISO
DNA:SNP:exon 9: p.G388R (human)
RGD
PMID:20127014
RGD:150520164
NCBI chr17:9,461,541...9,476,268
Ensembl chr17:9,461,547...9,476,242
G
Flt3
Fms related receptor tyrosine kinase 3
ISO
mRNA:decreased expression:oral epithelium (human)
RGD
PMID:32048621
RGD:149735374
NCBI chr12:7,623,930...7,699,474
Ensembl chr12:7,623,930...7,699,474
G
Fosl2
FOS like 2, AP-1 transcription factor subunit
ISO
mRNA, protein:increased expression:mouth (human)
RGD
PMID:34111459
RGD:153344573
NCBI chr 6:24,297,898...24,319,219
Ensembl chr 6:24,300,956...24,320,034
G
Gapdh
glyceraldehyde-3-phosphate dehydrogenase
IEP
RGD
PMID:27375172
RGD:13792673
NCBI chr 4:157,962,312...157,967,158
Ensembl chr 4:157,962,343...157,966,235
G
Gpx1
glutathione peroxidase 1
exacerbates
ISO
protein:increased expression:oral cavity (human)
RGD
PMID:28653098
RGD:152995473
NCBI chr 8:109,026,905...109,028,031
Ensembl chr 8:109,026,905...109,028,024
G
Gpx4
glutathione peroxidase 4
disease_progression
ISO
protein:increased expression:oral cavity (human)
RGD
PMID:28653098
RGD:152995473
NCBI chr 7:9,650,186...9,652,982
Ensembl chr 7:9,650,185...9,652,982
G
Gsk3b
glycogen synthase kinase 3 beta
susceptibility
ISO
DNA:SNP:intron: (rs9879992) (human)
RGD
PMID:21393552
RGD:150530486
NCBI chr11:62,498,997...62,648,665
Ensembl chr11:62,504,316...62,648,646
G
Gstm1
glutathione S-transferase mu 1
severity
ISO
DNA:deletion: : (human)
RGD
PMID:22213390 PMID:14662415
RGD:12792245 , RGD:14700962
NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411
G
Gstp1
glutathione S-transferase pi 1
ISO
mRNA,protein:decreased expression:mucosa:
RGD
PMID:16982972
RGD:10755432
NCBI chr 1:201,337,762...201,340,230
Ensembl chr 1:201,321,672...201,340,226
G
H2ax
H2A.X variant histone
disease_progression
ISO
protein:increased expression:mucosa of oral region (human)
RGD
PMID:29928356
RGD:150340604
NCBI chr 8:44,671,907...44,673,262
Ensembl chr 8:44,671,786...44,673,239
G
Hes1
hes family bHLH transcription factor 1
ISO
protein:increased expression:tongue (mouse)
RGD
PMID:30624777
RGD:151347668
NCBI chr11:70,705,763...70,708,176
Ensembl chr11:70,705,764...70,708,192
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Hp
haptoglobin
ISO
protein:increased expression:saliva
RGD
PMID:29199150
RGD:153350131
NCBI chr19:37,539,626...37,544,178
Ensembl chr19:37,539,627...37,544,523
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Il10
interleukin 10
susceptibility
ISO
DNA:SNP:promoter:-592A>C (human)
RGD
PMID:28157558
RGD:14975130
NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
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Il13ra2
interleukin 13 receptor subunit alpha 2
ISO
RGD
PMID:19065664
RGD:8549498
NCBI chr X:111,002,590...111,074,053
Ensembl chr X:111,002,592...111,072,381
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Il1b
interleukin 1 beta
disease_progression
IEP
associated with social isolation;protein:increased expression:tongue (rat)
RGD
PMID:33411841
RGD:152998999
NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
G
Il2
interleukin 2
ISO
RGD
PMID:10389944
RGD:8662949
NCBI chr 2:120,004,862...120,009,566
Ensembl chr 2:120,004,862...120,009,566
G
Il6
interleukin 6
disease_progression
ISO
RGD
PMID:24625449
RGD:9589120
NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
G
Jun
Jun proto-oncogene, AP-1 transcription factor subunit
ISO
mRNA, protein:increased expression:mouth (human)
RGD
PMID:34111459
RGD:153344573
NCBI chr 5:109,894,175...109,897,268
Ensembl chr 5:109,893,145...109,897,656
G
Junb
JunB proto-oncogene, AP-1 transcription factor subunit
ISO
associated with papillomavirus infectious disease;protein:increased expression:oral cavity (human)
RGD
PMID:28155253
RGD:151347666
NCBI chr19:23,176,265...23,178,049
Ensembl chr19:23,176,294...23,178,035
G
Kmt2d
lysine methyltransferase 2D
severity
ISO
RGD
PMID:31660637
RGD:150521713
NCBI chr 7:129,980,744...130,022,088
Ensembl chr 7:129,962,887...130,020,325
G
Mcph1
microcephalin 1
ISO
mRNA:protein:decreased expression:oral cavity, tissue (human)
RGD
PMID:23472065
RGD:9589036
NCBI chr16:71,021,855...71,224,067
Ensembl chr16:71,024,588...71,224,122
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Met
MET proto-oncogene, receptor tyrosine kinase
ISO
protein:increased expression, altered expression:mouth mucosa:
RGD
PMID:20662906
RGD:8548617
NCBI chr 4:45,790,456...45,898,139
Ensembl chr 4:45,790,791...45,897,876
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Mir155
microRNA 155
disease_progression
ISO
RGD
PMID:30194167 PMID:28413645 PMID:29909906
RGD:21079420 , RGD:24922225 , RGD:21079468
NCBI chr11:23,774,654...23,774,718
Ensembl chr11:23,774,654...23,774,718
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Mir187
microRNA 187
ISO
RNA:increased expression:plasma
RGD
PMID:27542258
RGD:14390167
NCBI chr18:15,731,194...15,731,297
Ensembl chr18:15,731,194...15,731,297
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Mir20a
microRNA 20a
ISO
RGD
PMID:26781875
RGD:26884343
NCBI chr15:92,181,084...92,181,168
Ensembl chr15:92,181,084...92,181,168
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Mir221
microRNA 221
exacerbates
ISO
RGD
PMID:21226887
RGD:151708999
NCBI chr X:3,429,465...3,429,573
Ensembl chr X:3,429,465...3,429,573
G
Mir222
microRNA 222
disease_progression exacerbates
ISO
RGD
PMID:31841247 PMID:21226887
RGD:151708741 , RGD:151708999
NCBI chr X:3,428,904...3,429,006
Ensembl chr X:3,428,904...3,429,006
G
Mir31
microRNA 31
treatment
ISO
RGD
PMID:20233326
RGD:153297767
NCBI chr 5:103,599,038...103,599,143
G
Mthfr
methylenetetrahydrofolate reductase
susceptibility
ISO
DNA:missense mutation:cds:677C>T (human)
RGD
PMID:16365753
RGD:10449416
NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797
G
Naip6
NLR family, apoptosis inhibitory protein 6
ISO
protein:increased expression:oral cavity (human)
RGD
PMID:20967871
RGD:152999012
NCBI chr 2:31,507,423...31,559,098
Ensembl chr 2:31,507,424...31,570,542
G
Notch1
notch receptor 1
ISO
protein:increased expression:tongue (mouse)
RGD
PMID:30624777
RGD:151347668
NCBI chr 3:9,277,955...9,323,531
Ensembl chr 3:9,278,086...9,323,531
G
Pecam1
platelet and endothelial cell adhesion molecule 1
ISO
protein:decreased expression:oral mucosa (human)
RGD
PMID:26044849
RGD:153323290
NCBI chr10:91,590,521...91,652,279
Ensembl chr10:91,590,521...91,652,116
G
Plau
plasminogen activator, urokinase
severity
ISO
protein:increased expression:oral mucosa (rat)
RGD
PMID:15878520
RGD:8547730
NCBI chr15:3,456,230...3,462,732
Ensembl chr15:3,456,232...3,462,775
G
Plcg1
phospholipase C, gamma 1
disease_progression ameliorates
ISO
protein:decreased expression:oral cavity (human)
RGD
PMID:26464646 PMID:25085076
RGD:11526681 , RGD:151356936
NCBI chr 3:149,385,587...149,416,330
Ensembl chr 3:149,385,587...149,416,330
G
Prdx2
peroxiredoxin 2
ISO
protein:increased expression:saliva
RGD
PMID:29199150
RGD:153350131
NCBI chr19:23,180,927...23,186,217
Ensembl chr19:23,180,930...23,186,194
G
Pten
phosphatase and tensin homolog
disease_progression
ISO
protein:increased expression:oral epithelium (human)
RGD
PMID:33109573
RGD:127285606
NCBI chr 1:230,630,443...230,697,070
Ensembl chr 1:230,630,338...230,696,838
G
Ptgis
prostaglandin I2 synthase
ISO
mRNA,protein:decreased expression:mouth mucosa (human)
RGD
PMID:30532780
RGD:151347832
NCBI chr 3:155,928,564...155,964,228
Ensembl chr 3:155,916,412...155,965,451
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Ptpn13
protein tyrosine phosphatase, non-receptor type 13
treatment
ISO
RGD
PMID:21176871
RGD:152600900
NCBI chr14:6,108,202...6,282,619
Ensembl chr14:6,108,211...6,282,563
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Rad21
RAD21 cohesin complex component
exacerbates
ISO
mRNA:decreased expression:oral cavity (human)
RGD
PMID:16416296
RGD:150520028
NCBI chr 7:83,287,867...83,314,810
Ensembl chr 7:83,287,870...83,314,817
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Rela
RELA proto-oncogene, NF-kB subunit
ISO
protein:increased expression:mouth (human)
RGD
PMID:34111459
RGD:153344573
NCBI chr 1:202,925,001...202,935,484
Ensembl chr 1:202,924,945...202,935,484
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Serpine1
serpin family E member 1
severity disease_progression
ISO
protein:increased expression:oral mucosa (rat)
RGD
PMID:15878520 PMID:24999729
RGD:8547730 , RGD:13208508
NCBI chr12:19,601,272...19,611,657
Ensembl chr12:19,601,272...19,611,657
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Skp2
S-phase kinase associated protein 2
ISO
protein:increased expression:mucosa of oral region (human)
RGD
PMID:24743017
RGD:151665336
NCBI chr 2:58,161,226...58,189,293
Ensembl chr 2:58,161,229...58,189,338
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Slc7a5
solute carrier family 7 member 5
severity
ISO
RGD
PMID:23801167
RGD:151361213
NCBI chr19:49,935,220...49,963,823
Ensembl chr19:49,935,220...49,963,823
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Tert
telomerase reverse transcriptase
susceptibility
ISO
DNA:SNPs: :rs2736100,rs2736098(human)
RGD
PMID:28025427
RGD:150530487
NCBI chr 1:29,637,213...29,659,561
Ensembl chr 1:29,637,506...29,659,561
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Tet2
tet methylcytosine dioxygenase 2
ISO
protein:decreased expression:oral epithelium (human)
RGD
PMID:24122999
RGD:150429611
NCBI chr 2:221,988,645...222,072,813
Ensembl chr 2:221,988,645...222,072,534
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Tnf
tumor necrosis factor
disease_progression
IEP
associated with social isolation;protein:increased expression:tongue (rat)
RGD
PMID:33411841
RGD:152998999
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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Tp53
tumor protein p53
ISO
DNA:missense mutations: :multiple protein:increased expression:mouth (human)
RGD
PMID:27283772 PMID:34111459
RGD:14995497 , RGD:153344573
NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
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Ttr
transthyretin
ISO
protein:increased expression:saliva (human)
RGD
PMID:23784731
RGD:151664609
NCBI chr18:11,941,791...11,951,008
Ensembl chr18:11,943,789...11,951,008
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Vegfa
vascular endothelial growth factor A
ISO
protein:increased expression:oral mucosa (human)
RGD
PMID:26044849
RGD:153323290
NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641
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Wnt11
Wnt family member 11
susceptibility
ISO
DNA:SNP:exon: A>G (rs1533767) (human)
RGD
PMID:21393552
RGD:150530486
NCBI chr 1:153,134,503...153,154,294
Ensembl chr 1:153,138,197...153,154,294
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Rspo1
R-spondin 1
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and 46,XX sex reversal
OMIM CTD ClinVar
PMID:16158431 PMID:17041600 PMID:25741868 PMID:28492532
NCBI chr 5:137,251,629...137,273,273
Ensembl chr 5:137,251,659...137,272,933
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Tgfb2
transforming growth factor, beta 2
ameliorates
ISO
human cells in a mouse model
RGD
PMID:21366804
RGD:155630611
NCBI chr13:98,160,075...98,261,771
Ensembl chr13:98,160,087...98,261,405
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Lats1
large tumor suppressor kinase 1
ISO
ClinVar Annotator: match by term: Malignant peritoneal mesothelioma
ClinVar
NCBI chr 1:2,160,411...2,193,640
Ensembl chr 1:2,160,411...2,193,640
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Lats2
large tumor suppressor kinase 2
ISO
ClinVar Annotator: match by term: Malignant peritoneal mesothelioma
ClinVar
NCBI chr15:31,825,068...31,877,193
Ensembl chr15:31,825,092...31,877,220
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Mecom
MDS1 and EVI1 complex locus
ISO
ClinVar Annotator: match by term: Malignant peritoneal mesothelioma
ClinVar
NCBI chr 2:112,909,353...113,464,583
Ensembl chr 2:112,909,321...113,464,590
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Traf7
TNF receptor associated factor 7
ISO
DNA:missense mutations:multiple
RGD
PMID:30171198
RGD:151356964
NCBI chr10:13,533,570...13,552,290
Ensembl chr10:13,533,570...13,552,203
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Clptm1l
CLPTM1-like
sexual_dimorphism
ISO
in males;DNA:SNP: :rs401681(human)
RGD
PMID:31429604
RGD:150530637
NCBI chr 1:29,667,545...29,683,530
Ensembl chr 1:29,667,545...29,683,530
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Cdkn2a
cyclin-dependent kinase inhibitor 2A
IAGP
DNA:deletion
RGD
PMID:20065947
RGD:7248760
NCBI chr 5:103,984,949...103,992,143
Ensembl chr 5:103,984,949...104,003,149
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Ctcf
CCCTC-binding factor
ISO
DNA:mutations:multiple (human)
RGD
PMID:27974201
RGD:151356739
NCBI chr19:33,521,726...33,571,124
Ensembl chr19:33,529,319...33,571,123
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Ddx5
DEAD-box helicase 5
ISO
protein:increased expression:foreskin (human)
RGD
PMID:22548649
RGD:9850272
NCBI chr10:91,723,508...91,732,210
Ensembl chr10:91,723,508...91,732,283
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Fat1
FAT atypical cadherin 1
disease_progression
ISO
associated with Neoplasm Metastasis
RGD
PMID:33328637
RGD:151347447
NCBI chr16:47,177,253...47,296,261
Ensembl chr16:47,177,248...47,296,107
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Fgf10
fibroblast growth factor 10
ISO
Pten conditional KO mouse
RGD
PMID:24582960
RGD:126928134
NCBI chr 2:50,801,171...50,878,218
Ensembl chr 2:50,800,992...50,876,866
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Knstrn
kinetochore-localized astrin/SPAG5 binding protein
ISO
DNA:mutation:cds: p.Ala40Glu (human) DNA:mutation:cds: p.Ser24Phe(human)
RGD
PMID:30972880 PMID:25194279
RGD:28867225 , RGD:28867226
NCBI chr 3:105,800,762...105,820,555
Ensembl chr 3:105,800,954...105,820,715
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Pten
phosphatase and tensin homolog
ameliorates
ISO
RGD
PMID:24582960
RGD:126928134
NCBI chr 1:230,630,443...230,697,070
Ensembl chr 1:230,630,338...230,696,838
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Ada
adenosine deaminase
ISO
protein:increased activity:saliva:
RGD
PMID:20379753
RGD:152995262
NCBI chr 3:152,398,745...152,422,854
Ensembl chr 3:152,398,747...152,447,088
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Adipoq
adiponectin, C1Q and collagen domain containing
disease_progression
ISO
protein:decreased expression:serum
RGD
PMID:23181352
RGD:8694469
NCBI chr11:77,721,912...77,735,644
Ensembl chr11:77,721,912...77,735,564
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Bcl2
BCL2, apoptosis regulator
ISO
protein:increased expression:tongue (human)
RGD
PMID:26581505
RGD:11535375
NCBI chr13:22,689,783...22,853,920
Ensembl chr13:22,684,989...22,853,743 Ensembl chr13:22,684,989...22,853,743
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Birc2
baculoviral IAP repeat-containing 2
exacerbates
ISO
protein:increased expression:tongue (human)
RGD
PMID:18621506
RGD:153323319
NCBI chr 8:4,968,856...4,989,325
Ensembl chr 8:4,968,842...4,988,732
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Brinp3
BMP/retinoic acid inducible neural specific 3
ISO
mRNA:decreased expression:tongue:
RGD
PMID:19787213
RGD:14398487
NCBI chr13:58,413,883...58,846,828
Ensembl chr13:58,413,883...58,846,770
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Cav2
caveolin 2
ISO
protein:increased expression:mucosa of tongue
RGD
PMID:20558341
RGD:8661771
NCBI chr 4:45,616,766...45,624,144
Ensembl chr 4:45,616,712...45,624,244
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Ccnd1
cyclin D1
ISO
protein:increased expression:tongue (human)
RGD
PMID:26581505
RGD:11535375
NCBI chr 1:200,089,002...200,098,524
Ensembl chr 1:200,089,002...200,098,602
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Cdkn1a
cyclin-dependent kinase inhibitor 1A
disease_progression
ISO
RGD
PMID:12162767
RGD:8662376
NCBI chr20:7,149,177...7,159,727
Ensembl chr20:7,149,217...7,159,585
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Egfr
epidermal growth factor receptor
treatment
ISO
RGD
PMID:19380367
RGD:8551769
NCBI chr14:91,176,979...91,349,722
Ensembl chr14:91,177,067...91,344,382
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Erbb3
erb-b2 receptor tyrosine kinase 3
disease_progression
ISO
RGD
PMID:19691460
RGD:126781771
NCBI chr 7:994,549...1,015,876
Ensembl chr 7:996,225...1,015,525
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Erbb4
erb-b2 receptor tyrosine kinase 4
severity
ISO
RGD
PMID:19691460
RGD:126781771
NCBI chr 9:69,523,733...70,596,743
Ensembl chr 9:69,531,481...70,596,595
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Fancb
FA complementation group B
ISO
RGD
PMID:17409780
RGD:11049143
NCBI chr X:29,403,771...29,420,484
Ensembl chr X:29,403,771...29,420,192
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Fancc
FA complementation group C
ISO
RGD
PMID:17409780
RGD:11049143
NCBI chr17:1,680,660...1,822,610
Ensembl chr17:1,681,324...1,829,376
G
Fancf
FA complementation group F
ISO
mRNA:decreased expression:tongue:
RGD
PMID:17409780
RGD:11049143
NCBI chr 1:101,449,120...101,451,936
Ensembl chr 1:101,450,389...101,451,923
G
Fancg
FA complementation group G
ISO
RGD
PMID:17409780
RGD:11049143
NCBI chr 5:57,230,287...57,240,067
Ensembl chr 5:57,231,685...57,240,029
G
Fanci
FA complementation group I
ISO
RGD
PMID:17409780
RGD:11049143
NCBI chr 1:133,327,264...133,383,661
Ensembl chr 1:133,327,297...133,383,640
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Fancl
FA complementation group L
ISO
RGD
PMID:17409780
RGD:11049143
NCBI chr14:100,249,733...100,317,958
Ensembl chr14:100,248,875...100,314,255
G
Fancm
FA complementation group M
ISO
RGD
PMID:17409780
RGD:11049143
NCBI chr 6:83,126,903...83,180,455
Ensembl chr 6:83,127,093...83,180,028
G
Fos
Fos proto-oncogene, AP-1 transcription factor subunit
ISO
mRNA,protein:increased expression:tongue (human)
RGD
PMID:26581505
RGD:11535375
NCBI chr 6:105,121,170...105,124,036
Ensembl chr 6:105,121,170...105,124,036
G
Fosb
FosB proto-oncogene, AP-1 transcription factor subunit
ISO
protein:increased expression:tongue (human)
RGD
PMID:26581505
RGD:11535375
NCBI chr 1:78,954,312...78,961,492
Ensembl chr 1:78,954,115...78,961,465
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Fosl1
FOS like 1, AP-1 transcription factor subunit
ISO
protein:decreased expression:tongue (human)
RGD
PMID:26581505
RGD:11535375
NCBI chr 1:202,754,549...202,763,057
Ensembl chr 1:202,754,529...202,764,930
G
Fosl2
FOS like 2, AP-1 transcription factor subunit
ISO
mRNA,protein:increased expression:tongue (human)
RGD
PMID:26581505
RGD:11535375
NCBI chr 6:24,297,898...24,319,219
Ensembl chr 6:24,300,956...24,320,034
G
Fubp1
far upstream element binding protein 1
exacerbates
ISO
mRNA, protein:increased expression:tongue (human)
RGD
PMID:32339054
RGD:151361191
NCBI chr 2:241,159,481...241,186,591
Ensembl chr 2:241,159,512...241,186,602
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Gja1
gap junction protein, alpha 1
IEP
protein:decreased expression:epithelium
RGD
PMID:23568744
RGD:8662380
NCBI chr20:35,756,007...35,768,481
Ensembl chr20:35,755,991...35,768,582
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Hgf
hepatocyte growth factor
ISO
protein:increased expression:tongue:
RGD
PMID:20848408
RGD:8548612
NCBI chr 4:18,673,736...18,745,582
Ensembl chr 4:18,677,101...18,745,409
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Ifng
interferon gamma
disease_progression
IEP
protein:decreased expression:serum:
RGD
PMID:17338814
RGD:8662972
NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375
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Il10
interleukin 10
disease_progression
IEP
protein:increased expression:serum:
RGD
PMID:17338814
RGD:8662972
NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
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Il1rl1
interleukin 1 receptor-like 1
disease_progression
ISO
RGD
PMID:25193287
RGD:39938972
NCBI chr 9:42,661,694...42,727,266
Ensembl chr 9:42,697,192...42,727,256
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Il2
interleukin 2
IEP
protein:decreased expression:serum:
RGD
PMID:17338814
RGD:8662972
NCBI chr 2:120,004,862...120,009,566
Ensembl chr 2:120,004,862...120,009,566
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Il33
interleukin 33
disease_progression
ISO
RGD
PMID:25193287
RGD:39938972
NCBI chr 1:227,701,964...227,736,374
Ensembl chr 1:227,721,435...227,736,373
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Jak3
Janus kinase 3
disease_progression
IEP
RGD
PMID:26860129
RGD:11531126
NCBI chr16:18,386,330...18,398,542
Ensembl chr16:18,386,405...18,398,536
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Jun
Jun proto-oncogene, AP-1 transcription factor subunit
ISO
mRNA,protein:increased expression:tongue (human)
RGD
PMID:26581505
RGD:11535375
NCBI chr 5:109,894,175...109,897,268
Ensembl chr 5:109,893,145...109,897,656
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Junb
JunB proto-oncogene, AP-1 transcription factor subunit
ISO
protein:increased expression:tongue (human)
RGD
PMID:26581505
RGD:11535375
NCBI chr19:23,176,265...23,178,049
Ensembl chr19:23,176,294...23,178,035
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Jund
JunD proto-oncogene, AP-1 transcription factor subunit
ISO
protein:increased expression:tongue (human)
RGD
PMID:26581505
RGD:11535375
NCBI chr16:18,734,121...18,735,799
Ensembl chr16:18,734,122...18,735,799
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Kdr
kinase insert domain receptor
treatment
ISO
RGD
PMID:19380367
RGD:8551769
NCBI chr14:32,217,871...32,261,018
Ensembl chr14:32,217,871...32,261,018
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Map2k4
mitogen activated protein kinase kinase 4
ISO
mRNA:increased expression:tongue squamous epithelium (human)
RGD
PMID:28319306
RGD:150429750
NCBI chr10:50,343,227...50,447,956
Ensembl chr10:50,344,915...50,447,993
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Met
MET proto-oncogene, receptor tyrosine kinase
ISO
protein:increased expression:tongue:
RGD
PMID:20848408
RGD:8548612
NCBI chr 4:45,790,456...45,898,139
Ensembl chr 4:45,790,791...45,897,876
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Mmp9
matrix metallopeptidase 9
ISO
protein:increased expression:tongue (human)
RGD
PMID:26581505
RGD:11535375
NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
G
Mtus1
microtubule associated scaffold protein 1
disease_progression
ISO
RGD
PMID:22153618
RGD:25330347
NCBI chr16:51,202,497...51,347,794
Ensembl chr16:51,253,562...51,347,793
G
Slc1a5
solute carrier family 1 member 5
disease_progression
ISO
RGD
PMID:24762957
RGD:151361157
NCBI chr 1:77,456,849...77,470,952
Ensembl chr 1:77,456,694...77,470,952
G
Slc3a2
solute carrier family 3 member 2
disease_progression
ISO
RGD
PMID:24762957
RGD:151361157
NCBI chr 1:205,604,468...205,618,931
Ensembl chr 1:205,604,468...205,618,931
G
Slc7a11
solute carrier family 7 member 11
severity
ISO
RGD
PMID:24762957
RGD:151361157
NCBI chr 2:134,382,002...134,517,622
Ensembl chr 2:133,963,107...134,517,536
G
Slc7a5
solute carrier family 7 member 5
disease_progression
ISO
RGD
PMID:24762957
RGD:151361157
NCBI chr19:49,935,220...49,963,823
Ensembl chr19:49,935,220...49,963,823
G
Sox2
SRY-box transcription factor 2
disease_progression
ISO
RGD
PMID:21689966
RGD:8661665
NCBI chr 2:117,536,929...117,539,340
Ensembl chr 2:117,536,929...117,539,338
G
Tp53
tumor protein p53
IEP
protein:increased expression:tongue:
RGD
PMID:20385474
RGD:8547851
NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
G
Fgfr3
fibroblast growth factor receptor 3
severity
ISO
associated with human papillomavirus;protein:decreased expression:tumor cells (human)
RGD
PMID:30061236
RGD:36947883
NCBI chr14:76,987,242...77,002,671
Ensembl chr14:76,987,993...77,003,341
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Cdc25a
cell division cycle 25A
ISO
protein:increased expression:vulva
RGD
PMID:20500813
RGD:2729590
NCBI chr 8:109,864,356...109,882,734
Ensembl chr 8:109,864,478...109,882,701
G
Cdc25b
cell division cycle 25B
disease_progression
ISO
protein:increased expression:vulva
RGD
PMID:20500813
RGD:2729590
NCBI chr 3:118,407,127...118,417,272
Ensembl chr 3:118,407,128...118,417,272
G
Cdc25c
cell division cycle 25C
disease_progression
ISO
protein:increased expression:vulva
RGD
PMID:20500813
RGD:2729590
NCBI chr18:26,335,156...26,356,199
Ensembl chr18:26,335,834...26,356,185
G
Sfn
stratifin
ISO
DNA, mRNA:hypermethylation, decreased expression:vulva
RGD
PMID:11896620
RGD:2299936
NCBI chr 5:145,826,722...145,827,994
Ensembl chr 5:145,826,201...145,831,314
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