RGD DISEASE ONTOLOGY - ANNOTATIONS |
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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.
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Term: | squamous cell neoplasm |
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Accession: | DOID:3168
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browse the term
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Definition: | A cell type benign neoplasm composed_of epithelial cells located_in the ectodermal or endodermal cells linking body cavities. (DO) |
Synonyms: | exact_synonym: | epidermoid cell tumor; squamous cell neoplasms; squamous cell tumor |
| primary_id: | MESH:D018307 |
| xref: | NCI:C3792 |
For additional species annotation, visit the
Alliance of Genome Resources.
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Brca2 |
BRCA2, DNA repair associated |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24880342 |
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NCBI chr12:59,492...103,789
Ensembl chr12:59,819...100,567
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Chek2 |
checkpoint kinase 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24880342 |
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NCBI chr12:45,788,823...45,821,382
Ensembl chr12:45,788,827...45,821,286
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Strap |
serine/threonine kinase receptor associated protein |
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ISO |
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RGD |
PMID:16778189 |
RGD:1581429 |
NCBI chr 4:170,646,042...170,660,291
Ensembl chr 4:170,646,001...170,660,828
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Tp63 |
tumor protein p63 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23271742 |
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NCBI chr11:74,838,858...75,049,764
Ensembl chr11:74,838,859...75,049,398
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Hnf1a |
HNF1 homeobox A |
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ISO |
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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 |
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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 |
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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 |
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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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Ccl20 |
C-C motif chemokine ligand 20 |
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ISO |
protein:decreased expression:skin |
RGD |
PMID:17545018 |
RGD:7483603 |
NCBI chr 9:84,389,031...84,391,629
Ensembl chr 9:84,388,904...84,391,629
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Cd8a |
CD8 subunit alpha |
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ISO |
mRNA:decreased expression:zone of skin (human) |
RGD |
PMID:25774455 |
RGD:36174028 |
NCBI chr 4:103,365,804...103,370,041
Ensembl chr 4:103,365,804...103,370,040
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Ctla4 |
cytotoxic T-lymphocyte-associated protein 4 |
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ISO |
mRNA,protein:increased expression:multiple (human) |
RGD |
PMID:23754510 |
RGD:40400714 |
NCBI chr 9:62,318,874...62,325,978
Ensembl chr 9:62,319,312...62,324,963
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Foxp3 |
forkhead box P3 |
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ISO |
mRNA,protein:increased expression:multiple (human) |
RGD |
PMID:23754510 |
RGD:40400714 |
NCBI chr X:14,908,494...14,924,994
Ensembl chr X:14,908,494...14,923,838
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Ifna1 |
interferon, alpha 1 |
treatment |
ISO |
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RGD |
PMID:25774455 |
RGD:36174028 |
NCBI chr 5:103,097,356...103,097,925
Ensembl chr 5:103,097,356...103,097,925
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Il10 |
interleukin 10 |
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ISO |
mRNA,protein:increased expression:multiple (human) |
RGD |
PMID:23754510 |
RGD:40400714 |
NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
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Il12b |
interleukin 12B |
treatment |
ISO |
protein:decreased expression:peripheral blood mononuclear cells (human) |
RGD |
PMID:16114559 PMID:23754510 |
RGD:7829774, RGD:40400714 |
NCBI chr10:28,888,832...28,903,802
Ensembl chr10:28,893,008...28,902,903
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Il2 |
interleukin 2 |
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ISO |
protein:decreased expression:peripheral blood mononuclear cells (human) |
RGD |
PMID:23754510 |
RGD:40400714 |
NCBI chr 2:120,004,862...120,009,566
Ensembl chr 2:120,004,862...120,009,566
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Il21 |
interleukin 21 |
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ISO |
protein:decreased expression:blood serum (human) |
RGD |
PMID:31414711 |
RGD:127285371 |
NCBI chr 2:120,117,105...120,127,012
Ensembl chr 2:120,119,444...120,126,996
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Il4 |
interleukin 4 |
treatment |
ISO |
protein:increased expression:peripheral blood mononuclear cells (human) |
RGD |
PMID:16114559 PMID:23754510 |
RGD:7829774, RGD:40400714 |
NCBI chr10:37,771,203...37,776,750
Ensembl chr10:37,771,203...37,776,750
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Il6 |
interleukin 6 |
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ISO |
protein:decreased expression:peripheral blood mononuclear cells (human) |
RGD |
PMID:23754510 |
RGD:40400714 |
NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
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Klrk1 |
killer cell lectin like receptor K1 |
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ISO |
mRNA,protein:decreased expression:multiple (human) |
RGD |
PMID:23754510 |
RGD:40400714 |
NCBI chr 4:163,079,887...163,092,434
Ensembl chr 4:163,081,927...163,092,459
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Mapk8 |
mitogen-activated protein kinase 8 |
treatment |
ISO |
mRNA:increased expression:zone of skin (human) |
RGD |
PMID:25774455 |
RGD:36174028 |
NCBI chr16:8,638,897...8,721,960
Ensembl chr16:8,638,924...8,721,981
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Myd88 |
MYD88, innate immune signal transduction adaptor |
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ISO |
mRNA,protein:increased expression:multiple (human) |
RGD |
PMID:23754510 |
RGD:40400714 |
NCBI chr 8:119,074,439...119,078,508
Ensembl chr 8:119,074,437...119,079,415
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Ncr1 |
natural cytotoxicity triggering receptor 1 |
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ISO |
mRNA,protein:decreased expression:multiple (human) |
RGD |
PMID:23754510 |
RGD:40400714 |
NCBI chr 1:69,614,744...69,622,594
Ensembl chr 1:69,616,601...69,660,558
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Pdcd1 |
programmed cell death 1 |
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ISO |
mRNA,protein:increased expression:multiple (human) |
RGD |
PMID:23754510 |
RGD:40400714 |
NCBI chr 9:94,418,786...94,431,945
Ensembl chr 9:94,418,791...94,431,937
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Ptpn11 |
protein tyrosine phosphatase, non-receptor type 11 |
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ISO |
protein:increased expression:foreskin |
RGD |
PMID:18543080 |
RGD:39128248 |
NCBI chr12:35,365,436...35,424,925
Ensembl chr12:35,383,144...35,424,925
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Ptpn6 |
protein tyrosine phosphatase, non-receptor type 6 |
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ISO |
protein:increased expression:foreskin |
RGD |
PMID:18543080 |
RGD:39128248 |
NCBI chr 4:157,526,034...157,550,783
Ensembl chr 4:157,526,035...157,550,984
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Serpinf1 |
serpin family F member 1 |
disease_progression |
ISO |
mRNA, protein:decreased expression:skin of body (human) |
RGD |
PMID:23569025 |
RGD:27226706 |
NCBI chr10:60,250,198...60,262,593
Ensembl chr10:60,249,708...60,262,646
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Tgfb1 |
transforming growth factor, beta 1 |
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ISO |
mRNA,protein:increased expression:multiple (human) |
RGD |
PMID:23754510 |
RGD:40400714 |
NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847
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Tlr2 |
toll-like receptor 2 |
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ISO |
mRNA,protein:increased expression:multiple (human) |
RGD |
PMID:23754510 |
RGD:40400714 |
NCBI chr 2:169,200,620...169,206,819
Ensembl chr 2:169,197,419...169,206,630
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Tlr3 |
toll-like receptor 3 |
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ISO |
mRNA,protein:increased expression:multiple (human) |
RGD |
PMID:23754510 |
RGD:40400714 |
NCBI chr16:46,821,980...46,837,900
Ensembl chr16:46,822,039...46,836,545
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Tlr4 |
toll-like receptor 4 |
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ISO |
mRNA,protein:increased expression:multiple (human) |
RGD |
PMID:23754510 |
RGD:40400714 |
NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628
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Tlr7 |
toll-like receptor 7 |
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ISO |
mRNA,protein:increased expression:multiple (human) |
RGD |
PMID:23754510 |
RGD:40400714 |
NCBI chr X:27,027,380...27,054,309
Ensembl chr X:27,027,425...27,054,754
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Tlr8 |
toll-like receptor 8 |
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ISO |
mRNA,protein:increased expression:multiple (human) |
RGD |
PMID:23754510 |
RGD:40400714 |
NCBI chr X:27,091,780...27,116,092
Ensembl chr X:27,091,778...27,116,549
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Tlr9 |
toll-like receptor 9 |
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ISO |
mRNA,protein:increased expression:multiple (human) |
RGD |
PMID:23754510 |
RGD:40400714 |
NCBI chr 8:106,864,680...106,868,796
Ensembl chr 8:106,864,680...106,868,796
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Tnf |
tumor necrosis factor |
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ISO |
protein:increased expression:peripheral blood mononuclear cells (human) |
RGD |
PMID:23754510 |
RGD:40400714 |
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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Tnfrsf18 |
TNF receptor superfamily member 18 |
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ISO |
mRNA,protein:increased expression:multiple (human) |
RGD |
PMID:23754510 |
RGD:40400714 |
NCBI chr 5:166,618,461...166,622,353
Ensembl chr 5:166,618,969...166,622,353
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Ptch1 |
patched 1 |
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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
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Ccnd1 |
cyclin D1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29103775 |
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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 |
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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 |
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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 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21514422 |
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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 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21514422 |
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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 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21514422 |
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NCBI chr20:17,356,243...17,368,293
Ensembl chr20:17,356,197...17,368,292
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Birc2 |
baculoviral IAP repeat-containing 2 |
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ISO |
mRNA:increased expression:perianal skin (human) |
RGD |
PMID:20346172 |
RGD:152998971 |
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 |
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ISO |
mRNA:increased expression:perianal skin (human) |
RGD |
PMID:20346172 |
RGD:152998971 |
NCBI chr 8:5,000,844...5,028,470
Ensembl chr 8:5,000,845...5,015,802
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Sash1 |
SAM and SH3 domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Cancer, alopecia, pigment dyscrasia, onychodystrophy, and keratoderma | ClinVar Annotator: match by term: SASH1-related condition |
OMIM ClinVar |
PMID:25315659 PMID:25741868 PMID:28492532 |
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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 |
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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 DNA 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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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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Tp53 |
tumor protein p53 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Choroid plexus papilloma | ClinVar Annotator: match by term: Papilloma of choroid plexus |
CTD ClinVar OMIM |
PMID:1565143 PMID:1565144 PMID:1591732 PMID:1631137 PMID:1683921 PMID:1975675 PMID:1978757 PMID:1999338 PMID:2046748 PMID:2932480 PMID:4122735 PMID:7565304 PMID:7732013 PMID:7783166 PMID:7887414 PMID:8023157 PMID:8062826 PMID:8118819 PMID:8164043 PMID:8242752 PMID:8423216 PMID:8425176 PMID:8479749 PMID:8550239 PMID:8718514 PMID:8825920 PMID:9047394 PMID:9218725 PMID:9242456 PMID:9364015 PMID:9399838 PMID:9546439 PMID:9582268 PMID:9607760 PMID:9627118 PMID:9662334 PMID:9667734 PMID:9704930 PMID:9704931 PMID:9891044 PMID:10229196 PMID:10411893 PMID:10432928 PMID:10486318 PMID:10519380 PMID:10589545 PMID:10797439 PMID:10802655 PMID:10864200 PMID:10922393 PMID:11139324 PMID:11180592 PMID:11370630 PMID:11403041 PMID:11479205 PMID:11481490 PMID:11521785 PMID:11600572 PMID:11753428 PMID:11782540 PMID:12007217 PMID:12019170 PMID:12085209 PMID:12567188 PMID:12619118 PMID:12672316 PMID:12826609 PMID:12885464 PMID:12917626 PMID:14743206 PMID:15037740 PMID:15121773 PMID:15355915 PMID:15381368 PMID:15390294 PMID:15607980 PMID:15607981 PMID:15722483 PMID:15741269 PMID:15781620 PMID:15925506 PMID:15951970 PMID:15977174 PMID:16033918 PMID:16199549 PMID:16258005 PMID:16401470 PMID:16489069 PMID:16494995 PMID:16551709 PMID:16682957 PMID:16750598 PMID:16818505 PMID:16861262 PMID:16933305 PMID:16964264 PMID:16969106 PMID:17015838 PMID:17308077 PMID:17311302 PMID:17535973 PMID:17540308 PMID:17567834 PMID:17599946 PMID:17606709 PMID:17636407 PMID:17638920 PMID:17940213 PMID:18248785 PMID:18270399 PMID:18307025 PMID:18373486 PMID:18511570 PMID:18685109 PMID:18940924 PMID:19046423 PMID:19101993 PMID:19127115 PMID:19367569 PMID:19454241 PMID:19521721 PMID:19556618 PMID:19711436 PMID:19714490 PMID:19717094 PMID:19877175 PMID:19881536 PMID:20028212 PMID:20113312 PMID:20127978 PMID:20128691 PMID:20301488 PMID:20407015 PMID:20436704 PMID:20455025 PMID:20516128 PMID:20520810 PMID:20522432 PMID:20593220 PMID:20689556 PMID:20693561 PMID:20805372 PMID:21118481 PMID:21187651 PMID:21192060 PMID:21305319 PMID:21343334 PMID:21356188 PMID:21440489 PMID:21445056 PMID:21445348 PMID:21464421 PMID:21468523 PMID:21484931 PMID:21519010 PMID:21535297 PMID:21552135 PMID:21601526 PMID:21619694 PMID:21630152 PMID:21665182 PMID:21665242 PMID:21672450 PMID:21761402 PMID:22004116 PMID:22006311 PMID:22110706 PMID:22186996 PMID:22233476 PMID:22455664 PMID:22619358 PMID:22703879 PMID:22729912 PMID:22744426 PMID:22811390 PMID:22822097 PMID:22869713 PMID:22915647 PMID:22923379 PMID:23056559 PMID:23161690 PMID:23172776 PMID:23175693 PMID:23246812 PMID:23263379 PMID:23469205 PMID:23484829 PMID:23538418 PMID:23570263 PMID:23624782 PMID:23630318 PMID:23639312 PMID:23733769 PMID:23792586 PMID:23794094 PMID:23887774 PMID:23894400 PMID:24033266 PMID:24065105 PMID:24076587 PMID:24122735 PMID:24382691 PMID:24501221 PMID:24573247 PMID:24590827 PMID:24651012 PMID:24677579 PMID:24702488 PMID:24728327 PMID:24764719 PMID:24810334 PMID:24835218 PMID:24884479 PMID:24936644 PMID:25059482 PMID:25256166 PMID:25326637 PMID:25404506 PMID:25584008 PMID:25612911 PMID:25736369 PMID:25741868 PMID:25765855 PMID:25773284 PMID:25787918 PMID:25896519 PMID:25945745 PMID:25952993 PMID:26014290 PMID:26205489 PMID:26225655 PMID:26230955 PMID:26332594 PMID:26425688 PMID:26452166 PMID:26467025 PMID:26572807 PMID:26580448 PMID:26585234 PMID:26681051 PMID:26681312 PMID:26681682 PMID:26718964 PMID:26786923 PMID:26822237 PMID:26845104 PMID:26911350 PMID:27022024 PMID:27081505 PMID:27101110 PMID:27146902 PMID:27153395 PMID:27223487 PMID:27276561 PMID:27328919 PMID:27374712 PMID:27463065 PMID:27501770 PMID:27516001 PMID:27601191 PMID:27621308 PMID:27663983 PMID:27680515 PMID:27683180 PMID:27714481 PMID:27895058 PMID:27959731 PMID:27993330 PMID:28152038 PMID:28154273 PMID:28349240 PMID:28369373 PMID:28387921 PMID:28453743 PMID:28453760 PMID:28472496 PMID:28492532 PMID:28573494 PMID:28664506 PMID:28724667 PMID:28756477 PMID:28861920 PMID:28864397 PMID:28873162 PMID:28968711 PMID:28984303 PMID:29070607 PMID:29300620 PMID:29324801 PMID:29392648 PMID:29478780 PMID:29489754 PMID:29522266 PMID:29922827 PMID:29956451 PMID:29979965 PMID:30042151 PMID:30076369 PMID:30092803 PMID:30107858 PMID:30147334 PMID:30224644 PMID:30287823 PMID:30327374 PMID:30352134 PMID:30588330 PMID:30596752 PMID:30816478 PMID:30840781 PMID:30982232 PMID:31081129 PMID:31105275 PMID:31321604 PMID:31494577 PMID:31567591 PMID:31742824 PMID:31744167 PMID:31748977 PMID:31775759 PMID:31882575 PMID:31978118 PMID:31983162 PMID:32000721 PMID:32039725 PMID:32156018 PMID:32292755 PMID:32427313 PMID:32592449 PMID:32658383 PMID:32671623 PMID:32817165 PMID:32832836 PMID:32888145 PMID:32906206 PMID:32986223 PMID:33163847 PMID:33245408 PMID:33257846 PMID:33258288 PMID:33300245 PMID:33372952 PMID:33471991 PMID:33603772 PMID:33637564 PMID:33840814 PMID:34088725 PMID:34240179 PMID:34299313 PMID:34503094 PMID:34529667 PMID:34540492 PMID:34670578 PMID:34709361 PMID:34885220 PMID:35043155 PMID:35367578 PMID:35802772 PMID:35974385 PMID:36003761 PMID:36008825 PMID:36309086 PMID:36329109 PMID:36988593 More...
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NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
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Adam3a |
ADAM metallopeptidase domain 3A |
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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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Tmc6 |
transmembrane channel like 6 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Epidermodysplasia verruciformis |
CTD ClinVar |
PMID:9536098 PMID:12426567 PMID:15042430 PMID:16199547 PMID:17139267 PMID:17576681 PMID:22158547 PMID:24033266 PMID:25741868 PMID:28492532 PMID:36268689 More...
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NCBI chr10:102,982,059...102,999,509
Ensembl chr10:102,971,229...102,998,960
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Tmc8 |
transmembrane channel-like 8 |
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ISO |
ClinVar Annotator: match by term: Epidermodysplasia verruciformis |
ClinVar |
PMID:9536098 PMID:10084299 PMID:12426567 PMID:16045695 PMID:16199547 PMID:17368633 PMID:17576681 PMID:22158547 PMID:24033266 PMID:25741868 PMID:28492532 More...
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NCBI chr10:103,000,038...103,010,601
Ensembl chr10:102,998,402...103,010,590
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Tnrc6c |
trinucleotide repeat containing adaptor 6C |
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ISO |
ClinVar Annotator: match by term: Epidermodysplasia verruciformis |
ClinVar |
PMID:28492532 |
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NCBI chr10:102,908,958...102,979,543
Ensembl chr10:102,868,828...102,978,194
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Tmc6 |
transmembrane channel like 6 |
susceptibility |
ISO |
ClinVar Annotator: match by term: Epidermodysplasia verruciformis, susceptibility to, 1 | ClinVar Annotator: match by term: TMC6-related condition |
ClinVar OMIM |
PMID:9536098 PMID:12426567 PMID:15042430 PMID:16199547 PMID:17139267 PMID:17576681 PMID:25741868 PMID:28492532 PMID:36268689 More...
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NCBI chr10:102,982,059...102,999,509
Ensembl chr10:102,971,229...102,998,960
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Tmc8 |
transmembrane channel-like 8 |
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ISO |
ClinVar Annotator: match by term: Epidermodysplasia verruciformis, susceptibility to, 1 |
ClinVar |
PMID:9536098 PMID:12426567 PMID:17576681 PMID:22158547 PMID:25741868 PMID:28492532 More...
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NCBI chr10:103,000,038...103,010,601
Ensembl chr10:102,998,402...103,010,590
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Tmc6 |
transmembrane channel like 6 |
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ISO |
ClinVar Annotator: match by term: Epidermodysplasia verruciformis, susceptibility to, 2 | ClinVar Annotator: match by term: TMC8-related condition |
ClinVar |
PMID:9536098 PMID:17576681 PMID:24033266 PMID:25741868 PMID:28492532 |
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NCBI chr10:102,982,059...102,999,509
Ensembl chr10:102,971,229...102,998,960
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Tmc8 |
transmembrane channel-like 8 |
susceptibility |
ISO |
ClinVar Annotator: match by term: Epidermodysplasia verruciformis, susceptibility to, 2 | ClinVar Annotator: match by term: TMC8-related condition |
OMIM ClinVar |
PMID:9536098 PMID:10084299 PMID:12426567 PMID:16199547 PMID:17576681 PMID:22158547 PMID:24033266 PMID:25741868 PMID:28492532 PMID:28646613 More...
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NCBI chr10:103,000,038...103,010,601
Ensembl chr10:102,998,402...103,010,590
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Cib1 |
calcium and integrin binding 1 |
susceptibility |
ISO |
ClinVar Annotator: match by term: CIB1-related condition | ClinVar Annotator: match by term: Epidermodysplasia verruciformis, susceptibility to, 3 |
OMIM ClinVar |
PMID:228581 PMID:19702156 PMID:20982046 PMID:21196704 PMID:25741868 PMID:28492532 PMID:28646613 PMID:30068544 More...
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NCBI chr 1:134,178,331...134,183,895
Ensembl chr 1:134,178,331...134,213,423
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Rhoh |
ras homolog family member H |
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ISO |
ClinVar Annotator: match by term: Epidermodysplasia verruciformis, susceptibility to, 4 | ClinVar Annotator: match by term: RHOH-related condition |
OMIM ClinVar |
PMID:22850876 PMID:25741868 PMID:28492532 PMID:38775840 |
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NCBI chr14:42,341,135...42,371,971
Ensembl chr14:42,337,751...42,386,369
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Il7 |
interleukin 7 |
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ISO |
ClinVar Annotator: match by term: Epidermodysplasia verruciformis, susceptibility to, 5 | ClinVar Annotator: match by term: IL7-related condition |
OMIM ClinVar |
PMID:25741868 PMID:25981006 PMID:28492532 PMID:31900472 PMID:39352394 |
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NCBI chr 2:94,235,219...94,280,075
Ensembl chr 2:94,234,766...94,280,075
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Krt10 |
keratin 10 |
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ISO |
ClinVar Annotator: match by term: Epidermolytic acanthoma |
ClinVar |
PMID:1381287 PMID:7508181 PMID:7509230 PMID:7512983 PMID:21271994 PMID:22930352 PMID:25741868 PMID:26176760 PMID:28492532 PMID:28532675 PMID:32045015 More...
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NCBI chr10:84,338,695...84,343,279
Ensembl chr10:84,338,706...84,343,701
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Abcc2 |
ATP binding cassette subfamily C member 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21206495 |
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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 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21517111 |
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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 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25151357 |
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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 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16639733 PMID:22960999 |
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NCBI chr12:34,949,549...34,982,527
Ensembl chr12:34,901,219...34,982,521
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Anxa1 |
annexin A1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21517111 |
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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 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25129146 |
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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 |
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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 |
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ISO |
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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 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21517111 |
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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 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21517111 |
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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 |
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ISO |
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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 |
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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 |
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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 |
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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 |
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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 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18691855 |
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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 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21517111 |
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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 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21517111 |
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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 |
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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 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21517111 |
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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 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29379198 |
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NCBI chr20:3,205,675...3,218,437
Ensembl chr20:3,205,676...3,218,308
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Ccnd1 |
cyclin D1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25151357 |
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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 |
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ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:15375580 |
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NCBI chr20:7,149,177...7,159,727
Ensembl chr20:7,149,217...7,159,585
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G |
Cdkn2a |
cyclin-dependent kinase inhibitor 2A |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25151357 |
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NCBI chr 5:103,984,949...103,992,143
Ensembl chr 5:103,984,949...104,003,149
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G |
Cdkn2b |
cyclin-dependent kinase inhibitor 2B |
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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 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21517111 |
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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 |
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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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G |
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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|
G |
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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|
G |
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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|
G |
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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|
G |
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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|
G |
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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|
G |
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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G |
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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|
G |
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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|
G |
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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|
G |
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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G |
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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G |
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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G |
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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G |
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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G |
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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G |
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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G |
Egfr |
epidermal growth factor receptor |
severity |
ISO |
protein:increased expression:esophagus (human) CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:21947696 PMID:10385363 |
RGD:5131486 |
NCBI chr14:91,176,979...91,349,722
Ensembl chr14:91,177,067...91,344,382
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G |
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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G |
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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G |
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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G |
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
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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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|
G |
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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G |
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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G |
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
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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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G |
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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G |
Fasn |
fatty acid synthase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29379198 |
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NCBI chr10:106,072,093...106,090,259
Ensembl chr10:106,072,091...106,090,261
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G |
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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G |
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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G |
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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G |
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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G |
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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G |
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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G |
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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G |
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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G |
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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G |
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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G |
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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G |
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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G |
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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G |
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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G |
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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G |
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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G |
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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G |
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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G |
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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G |
Hif1a |
hypoxia inducible factor 1 subunit alpha |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17201171 |
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NCBI chr 6:92,624,059...92,669,262
Ensembl chr 6:92,624,390...92,669,261
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G |
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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G |
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 Ensembl chr 1:74,085,875...74,094,441
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G |
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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G |
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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G |
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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G |
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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G |
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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G |
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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G |
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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G |
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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G |
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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G |
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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G |
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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G |
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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G |
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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G |
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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G |
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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G |
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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G |
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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G |
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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G |
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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G |
Lta |
lymphotoxin alpha |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29379198 |
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NCBI chr20:3,618,853...3,621,324
Ensembl chr20:3,618,853...3,620,859
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G |
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 |
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NCBI chr16:20,542,756...20,598,204
Ensembl chr16:20,542,809...20,598,203
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G |
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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G |
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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G |
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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G |
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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G |
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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G |
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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G |
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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G |
Mir217 |
microRNA 217 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25538231 |
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NCBI chr14:102,531,505...102,531,609
Ensembl chr14:102,531,505...102,531,609
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G |
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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G |
Mir423 |
microRNA 423 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24205249 |
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NCBI chr10:61,914,142...61,914,220
Ensembl chr10:61,914,133...61,914,226
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G |
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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G |
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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G |
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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G |
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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G |
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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G |
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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G |
Mt1 |
metallothionein 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16543248 |
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NCBI chr19:10,826,032...10,827,048
Ensembl chr19:10,826,032...10,827,049 Ensembl chr17:10,826,032...10,827,049 Ensembl chr X:10,826,032...10,827,049
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G |
Nfe2l2 |
NFE2 like bZIP transcription factor 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25151357 |
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NCBI chr 3:60,594,239...60,621,712
Ensembl chr 3:60,594,242...60,621,737
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G |
Notch1 |
notch receptor 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25151357 |
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NCBI chr 3:9,277,955...9,323,531
Ensembl chr 3:9,278,086...9,323,531
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G |
Notch2 |
notch receptor 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25151357 |
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NCBI chr 2:185,610,594...185,744,088
Ensembl chr 2:185,610,589...185,744,088
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G |
Notch3 |
notch receptor 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25151357 |
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NCBI chr 7:11,132,984...11,184,025
Ensembl chr 7:11,133,706...11,184,025
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G |
Ogg1 |
8-oxoguanine DNA glycosylase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:38467300 |
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NCBI chr 4:146,474,701...146,481,959
Ensembl chr 4:146,474,750...146,484,766
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G |
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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G |
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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G |
Pfn1 |
profilin 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21517111 |
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NCBI chr10:55,365,263...55,367,968
Ensembl chr10:55,365,262...55,527,631
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G |
Plce1 |
phospholipase C, epsilon 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20729852 PMID:20729853 |
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NCBI chr 1:236,243,445...236,552,571
Ensembl chr 1:236,244,683...236,551,438
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G |
Prdx1 |
peroxiredoxin 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21517111 |
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NCBI chr 5:130,147,258...130,162,856
Ensembl chr 5:130,147,204...130,162,856
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G |
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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G |
Psme1 |
proteasome activator subunit 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21517111 |
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NCBI chr15:29,069,012...29,071,888
Ensembl chr15:29,068,729...29,071,890
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G |
Psme2 |
proteasome activator subunit 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21517111 |
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NCBI chr15:29,078,495...29,082,794
Ensembl chr15:29,078,500...29,082,946
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G |
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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G |
Ptgs2 |
prostaglandin-endoperoxide synthase 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15756444 PMID:16543248 PMID:18197933 |
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NCBI chr13:62,163,936...62,172,193
Ensembl chr13:62,163,932...62,172,188
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G |
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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G |
Rb1 |
RB transcriptional corepressor 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25151357 |
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NCBI chr15:48,371,295...48,502,473
Ensembl chr15:48,371,296...48,502,302
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G |
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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G |
Rnf6 |
ring finger protein 6 |
|
ISO |
ClinVar Annotator: match by term: Esophageal squamous cell carcinoma, somatic |
ClinVar OMIM |
PMID:12154016 |
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NCBI chr12:8,816,797...8,826,870
Ensembl chr12:8,816,833...8,826,847
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G |
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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G |
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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G |
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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G |
Sall4 |
spalt-like transcription factor 4 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30431698 |
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NCBI chr 3:157,474,067...157,491,055
Ensembl chr 3:157,474,642...157,490,822
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G |
Serpinb3 |
serpin family B member 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21517111 |
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NCBI chr13:23,274,120...23,280,660
Ensembl chr13:23,274,484...23,313,682
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G |
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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G |
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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G |
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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G |
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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G |
Slc39a6 |
solute carrier family 39 member 6 |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:23644492 |
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NCBI chr18:15,864,874...15,885,417
Ensembl chr18:15,864,875...15,885,417
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G |
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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G |
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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G |
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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G |
Sod2 |
superoxide dismutase 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18167182 PMID:21517111 |
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NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189
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G |
Sox2 |
SRY-box transcription factor 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19801978 |
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NCBI chr 2:117,536,929...117,539,340
Ensembl chr 2:117,536,929...117,539,338
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G |
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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G |
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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G |
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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G |
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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G |
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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G |
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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G |
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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G |
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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G |
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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G |
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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G |
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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G |
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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G |
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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G |
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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G |
Tnxb |
tenascin XB |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29379198 |
|
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G |
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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G |
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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G |
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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G |
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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G |
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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G |
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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G |
Usp8 |
ubiquitin specific peptidase 8 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:35022897 |
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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 |
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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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G |
Ventx |
VENT homeobox |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30431698 |
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NCBI chr X:86,483,893...86,484,900
Ensembl chr X:86,483,893...86,484,954
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G |
Wrap53 |
WD repeat containing, antisense to TP53 |
disease_progression |
ISO |
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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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G |
Wwox |
WW domain-containing oxidoreductase |
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ISO |
esophageal squamous cell carcinoma, OMIM:133239 ClinVar Annotator: match by term: Esophageal squamous cell carcinoma | ClinVar Annotator: match by term: Esophageal squamous cell carcinoma, somatic CTD Direct Evidence: marker/mechanism |
ClinVar OMIM CTD RGD |
PMID:11956080 PMID:16199547 PMID:24456803 PMID:25411445 PMID:25526675 PMID:25558065 PMID:25741868 PMID:27717089 PMID:28492532 PMID:29852413 PMID:11956080 More...
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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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G |
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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G |
Zcchc12 |
zinc finger CCHC-type containing 12 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30431698 |
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NCBI chr X:115,433,444...115,436,691
Ensembl chr X:115,433,259...115,436,692
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G |
Tgfbr1 |
transforming growth factor, beta receptor 1 |
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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:23358096 PMID:23884466 PMID:24033266 PMID:24055113 PMID:24793577 PMID:25110237 PMID:25116393 PMID:25504618 PMID:25521989 PMID:25637381 PMID:25715477 PMID:25741868 PMID:25834947 PMID:25907466 PMID:25944730 PMID:25985138 PMID:26848186 PMID:26877057 PMID:27146836 PMID:27153395 PMID:27611364 PMID:27647783 PMID:27879313 PMID:28209770 PMID:28492532 PMID:28550590 PMID:28655553 PMID:28659821 PMID:29706644 PMID:29907982 PMID:31915033 PMID:33256177 PMID:33824467 PMID:36937954 More...
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NCBI chr 5:61,653,773...61,710,777
Ensembl chr 5:61,653,233...61,710,777
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G |
Krt16 |
keratin 16 |
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ISO |
ClinVar Annotator: match by term: Palmoplantar keratoderma, nonepidermolytic, focal |
ClinVar |
PMID:8595410 PMID:16250206 PMID:22336941 PMID:24611874 PMID:25741868 PMID:28492532 PMID:31823354 More...
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NCBI chr10:85,168,357...85,171,816
Ensembl chr10:85,066,802...85,171,799
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G |
Krt6c |
keratin 6c |
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ISO |
ClinVar Annotator: match by term: Focal palmoplantar keratoderma |
ClinVar |
PMID:19609311 |
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NCBI chr 7:132,799,608...132,804,045
Ensembl chr 7:132,799,616...132,804,045
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G |
Spata22 |
spermatogenesis associated 22 |
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ISO |
ClinVar Annotator: match by term: Isolated focal non-epidermolytic palmoplantar keratoderma |
ClinVar |
PMID:25741868 |
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NCBI chr10:57,945,272...57,963,081
Ensembl chr10:57,932,187...57,963,081
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G |
Trpv3 |
transient receptor potential cation channel, subfamily V, member 3 |
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ISO |
ClinVar Annotator: match by term: Isolated focal non-epidermolytic palmoplantar keratoderma |
ClinVar |
PMID:9536098 PMID:17576681 PMID:21285946 PMID:24452206 PMID:25285920 PMID:25741868 PMID:28492532 PMID:28587736 More...
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NCBI chr10:57,883,546...57,915,865
Ensembl chr10:57,883,546...57,913,296
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G |
Krt16 |
keratin 16 |
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ISO |
ClinVar Annotator: match by term: Palmoplantar keratoderma, nonepidermolytic, focal 1 |
OMIM ClinVar |
PMID:8595410 PMID:16250206 PMID:22336941 PMID:22668561 PMID:24491404 PMID:24611874 PMID:25741868 PMID:28492532 PMID:31823354 More...
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NCBI chr10:85,168,357...85,171,816
Ensembl chr10:85,066,802...85,171,799
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G |
Trpv3 |
transient receptor potential cation channel, subfamily V, member 3 |
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ISO |
ClinVar Annotator: match by term: Palmoplantar keratoderma, nonepidermolytic, focal 2 | ClinVar Annotator: match by term: TRPV3-related condition |
OMIM ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr10:57,883,546...57,915,865
Ensembl chr10:57,883,546...57,913,296
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G |
Wrap53 |
WD repeat containing, antisense to TP53 |
disease_progression |
ISO |
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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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G |
Abcb1a |
ATP binding cassette subfamily B member 1A |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25275603 |
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NCBI chr 4:25,357,467...25,529,941
Ensembl chr 4:25,158,362...25,442,709
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G |
Abcc1 |
ATP binding cassette subfamily C member 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25275603 |
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NCBI chr10:528,961...655,179
Ensembl chr10:531,812...655,114
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G |
Abcc2 |
ATP binding cassette subfamily C member 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25275603 |
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NCBI chr 1:242,664,657...242,723,239
Ensembl chr 1:242,664,657...242,723,238
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G |
Abcg2 |
ATP binding cassette subfamily G member 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25275603 |
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NCBI chr 4:87,676,241...87,802,757
Ensembl chr 4:87,745,319...87,802,409
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G |
Abl1 |
ABL proto-oncogene 1, non-receptor tyrosine kinase |
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ISO |
ClinVar Annotator: match by term: Lip and oral cavity carcinoma |
ClinVar |
PMID:31775759 |
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NCBI chr 3:14,979,853...15,083,065
Ensembl chr 3:14,979,853...15,083,065
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G |
Acod1 |
aconitate decarboxylase 1 |
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ISO |
mRNA:increased expression:cranioceervical (human) |
RGD |
PMID:37793345 |
RGD:596992333 |
NCBI chr15:79,871,819...79,881,101
Ensembl chr15:79,871,827...79,880,529
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G |
Akt1 |
AKT serine/threonine kinase 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23873848 |
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NCBI chr 6:131,713,716...131,735,319
Ensembl chr 6:131,713,720...131,733,921
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G |
Ankrd17 |
ankyrin repeat domain 17 |
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ISO |
ClinVar Annotator: match by term: Lip and oral cavity carcinoma |
ClinVar |
PMID:28580594 |
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NCBI chr14:17,723,239...17,861,841
Ensembl chr14:17,721,932...17,862,617
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G |
Atp7b |
ATPase copper transporting beta |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:12509969 |
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NCBI chr16:69,952,286...70,024,404
Ensembl chr16:69,951,778...70,023,636
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G |
B2m |
beta-2 microglobulin |
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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:26619011 |
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NCBI chr 3:109,095,740...109,101,764
Ensembl chr 3:109,095,729...109,101,766
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G |
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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G |
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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G |
Braf |
B-Raf proto-oncogene, serine/threonine kinase |
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ISO |
ClinVar Annotator: match by term: Lip and oral cavity carcinoma |
ClinVar |
PMID:31775759 |
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NCBI chr 4:68,375,484...68,510,652
Ensembl chr 4:68,384,649...68,510,463
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G |
Casp8 |
caspase 8 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23358896 |
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NCBI chr 9:60,263,863...60,312,542
Ensembl chr 9:60,264,075...60,312,542
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G |
Ccdc3 |
coiled-coil domain containing 3 |
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ISO |
ClinVar Annotator: match by term: Lip and oral cavity carcinoma |
ClinVar |
PMID:26614431 |
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NCBI chr17:73,031,891...73,135,173
Ensembl chr17:73,035,045...73,135,337
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G |
Ccna1 |
cyclin A1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23358896 PMID:29464035 |
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NCBI chr 2:139,231,738...139,278,066
Ensembl chr 2:139,201,074...139,243,157
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G |
Ccna2 |
cyclin A2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29464035 |
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NCBI chr 2:119,427,239...119,433,645
Ensembl chr 2:119,426,089...119,433,577
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G |
Ccnb1 |
cyclin B1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29464035 |
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NCBI chr 2:31,912,190...31,921,163
Ensembl chr 2:31,912,193...31,921,172
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G |
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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G |
Ccne1 |
cyclin E1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29464035 |
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NCBI chr 1:90,781,947...90,791,188
Ensembl chr 1:90,781,949...90,791,101
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G |
Ccne2 |
cyclin E2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29464035 |
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NCBI chr 5:24,285,078...24,298,258
Ensembl chr 5:24,284,922...24,297,632
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G |
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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G |
Cdk2 |
cyclin dependent kinase 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29464035 |
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NCBI chr 7:1,129,878...1,137,431
Ensembl chr 7:1,129,811...1,137,403
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G |
Cdk4 |
cyclin-dependent kinase 4 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29464035 |
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NCBI chr 7:62,886,124...62,889,562
Ensembl chr 7:62,883,105...62,942,403
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G |
Cdk6 |
cyclin-dependent kinase 6 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29464035 |
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NCBI chr 4:30,637,650...30,829,688
Ensembl chr 4:30,646,460...30,829,634
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G |
Cdkn2a |
cyclin-dependent kinase inhibitor 2A |
disease_progression |
ISO |
DNA:SNPs: :rs3731217, rs3088440 (human) ClinVar Annotator: match by term: Lip and oral cavity carcinoma CTD Direct Evidence: marker/mechanism |
ClinVar CTD RGD |
PMID:7718873 PMID:8153634 PMID:8668202 PMID:9166859 PMID:11687599 PMID:15146471 PMID:16374456 PMID:16818274 PMID:16905682 PMID:18205010 PMID:18519632 PMID:21801156 PMID:24991542 PMID:25741868 PMID:26192916 PMID:26681309 PMID:26909611 PMID:27756164 PMID:27960642 PMID:28492532 PMID:28765326 PMID:29915805 PMID:31382929 PMID:31775759 PMID:21381012 More...
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RGD:8552291 |
NCBI chr 5:103,984,949...103,992,143
Ensembl chr 5:103,984,949...104,003,149
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G |
Chd4 |
chromodomain helicase DNA binding protein 4 |
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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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G |
Cldn1 |
claudin 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:33665778 |
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NCBI chr11:74,421,569...74,436,728
Ensembl chr11:74,421,569...74,436,724
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G |
Cntn4 |
contactin 4 |
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ISO |
ClinVar Annotator: match by term: Lip and oral cavity carcinoma |
ClinVar |
PMID:28595731 |
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NCBI chr 4:138,624,584...139,622,499
Ensembl chr 4:139,099,152...139,621,090
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G |
Crebbp |
CREB binding protein |
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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:21390126 PMID:21680795 PMID:21796119 PMID:22832583 PMID:23334668 PMID:23685749 PMID:23778141 PMID:25741868 PMID:26087898 PMID:26619011 PMID:27257180 PMID:28492532 PMID:28970362 PMID:29551561 PMID:33560380 More...
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NCBI chr10:11,335,551...11,461,888
Ensembl chr10:11,335,953...11,461,888
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G |
Ctnnb1 |
catenin beta 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:34019859 |
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NCBI chr 8:120,640,008...120,667,110
Ensembl chr 8:120,639,995...120,667,111
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G |
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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G |
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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G |
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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G |
Ddr2 |
discoidin domain receptor tyrosine kinase 2 |
severity |
ISO |
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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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G |
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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G |
Egfr |
epidermal growth factor receptor |
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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:17285735 PMID:19060236 PMID:19096301 PMID:20415598 PMID:21531084 PMID:22980975 PMID:23242437 PMID:23358982 PMID:23371856 PMID:24712396 PMID:24788590 PMID:25130612 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...
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NCBI chr14:91,176,979...91,349,722
Ensembl chr14:91,177,067...91,344,382
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G |
Erbb2 |
erb-b2 receptor tyrosine kinase 2 |
disease_progression |
ISO |
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RGD |
PMID:20604875 |
RGD:126790467 |
NCBI chr10:83,411,197...83,435,078
Ensembl chr10:83,411,313...83,435,078
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G |
Erbb4 |
erb-b2 receptor tyrosine kinase 4 |
severity |
ISO |
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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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G |
Fancb |
FA complementation group B |
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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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G |
Fancd2 |
FA complementation group D2 |
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ISO |
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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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G |
Fgfr3 |
fibroblast growth factor receptor 3 |
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ISO |
ClinVar Annotator: match by term: Head and neck squamous cell carcinoma 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: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 PMID:36135330 PMID:36474027 More...
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NCBI chr14:76,987,242...77,002,671
Ensembl chr14:76,987,993...77,003,341
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G |
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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G |
Fhit |
fragile histidine triad diadenosine triphosphatase |
|
ISO |
ClinVar Annotator: match by term: Lip and oral cavity carcinoma |
ClinVar |
PMID:28580594 |
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NCBI chr15:13,935,029...15,442,620
Ensembl chr15:13,934,995...15,442,340
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G |
Grik2 |
glutamate ionotropic receptor kainate type subunit 2 |
|
ISO |
ClinVar Annotator: match by term: Lip and oral cavity carcinoma |
ClinVar |
PMID:26614431 |
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NCBI chr20:52,135,325...52,833,061
Ensembl chr20:52,133,851...52,838,375
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G |
Hoxa5 |
homeo box A5 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22227861 |
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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 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22227861 |
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NCBI chr 3:59,594,516...59,597,725
Ensembl chr 3:59,594,516...59,597,725
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G |
Hoxd11 |
homeobox D11 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22227861 |
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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 |
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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:20301680 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...
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NCBI chr 1:196,290,127...196,299,823
Ensembl chr 1:196,296,263...196,300,615
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Ifnl3 |
interferon, lambda 3 |
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ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:21304406 |
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NCBI chr 1:83,814,456...83,816,096
Ensembl chr 1:83,814,564...83,816,096
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G |
Igf1 |
insulin-like growth factor 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30594912 |
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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 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27738319 |
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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 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27738319 |
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NCBI chr11:74,062,999...74,199,530
Ensembl chr11:74,070,304...74,199,530
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Il2 |
interleukin 2 |
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ISO |
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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 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck |
OMIM CTD ClinVar |
PMID:10866301 |
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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 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30594912 |
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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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G |
Kiss1 |
KiSS-1 metastasis-suppressor |
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ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:21383688 |
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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 |
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ISO |
ClinVar Annotator: match by term: Lip and oral cavity carcinoma |
ClinVar |
PMID:22703879 PMID:24728327 PMID:25741868 PMID:28492532 PMID:31775759 |
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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 |
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ISO |
ClinVar Annotator: match by term: Lip and oral cavity carcinoma |
ClinVar |
PMID:26614431 |
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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 |
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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:20301680 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...
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NCBI chr 1:196,299,843...196,315,170
Ensembl chr 1:196,299,846...196,315,172
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Mgmt |
O-6-methylguanine-DNA methyltransferase |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24991542 |
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NCBI chr 1:191,710,980...191,937,760
Ensembl chr 1:191,710,930...191,937,756
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G |
Mir155 |
microRNA 155 |
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ISO |
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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 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19487542 |
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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 |
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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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G |
Mmp2 |
matrix metallopeptidase 2 |
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ISO |
ClinVar Annotator: match by term: Lip and oral cavity carcinoma |
ClinVar |
PMID:28595731 |
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NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870
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G |
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 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28501332 |
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NCBI chr 6:49,425,316...49,462,109
Ensembl chr 6:49,424,332...49,462,100
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G |
Ndrg1 |
N-myc downstream regulated 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22972152 |
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NCBI chr 7:98,684,487...98,725,869
Ensembl chr 7:98,684,487...98,725,880
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G |
Nsdhl |
NAD(P) dependent 3-beta-hydroxysteroid dehydrogenase NSDHL |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23125191 |
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NCBI chr X:150,775,034...150,807,161
Ensembl chr X:150,775,080...150,807,142
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G |
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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G |
Pik3ca |
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Lip and oral cavity carcinoma ClinVar Annotator: match by term: Head and neck squamous cell carcinoma | 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:29661094 PMID:29988677 PMID:30063105 PMID:30376034 PMID:30543347 PMID:31536475 PMID:31568861 PMID:31775759 PMID:32778138 PMID:34008892 PMID:34496175 PMID:37712948 More...
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NCBI chr 2:115,175,275...115,249,034
Ensembl chr 2:115,174,984...115,249,032
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Ppp2r1a |
protein phosphatase 2 scaffold subunit A alpha |
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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 |
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NCBI chr 1:60,540,223...60,559,467
Ensembl chr 1:60,540,194...60,560,129
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G |
Prex2 |
phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 |
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ISO |
ClinVar Annotator: match by term: Lip and oral cavity carcinoma |
ClinVar |
PMID:26614431 |
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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 |
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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:11801303 PMID:23873848 PMID:24033266 PMID:24055113 PMID:25741868 PMID:25980754 PMID:28492532 PMID:29706350 PMID:29785012 PMID:30311380 PMID:32350270 PMID:32832836 PMID:32885271 PMID:34793697 PMID:38645101 More...
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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 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:12969226 |
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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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G |
Rasgrp3 |
RAS guanyl releasing protein 3 |
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ISO |
ClinVar Annotator: match by term: Lip and oral cavity carcinoma |
ClinVar |
PMID:26614431 |
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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 |
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ISO |
ClinVar Annotator: match by term: Lip and oral cavity carcinoma |
ClinVar |
PMID:31775759 |
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NCBI chr15:48,371,295...48,502,473
Ensembl chr15:48,371,296...48,502,302
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G |
Samd4a |
sterile alpha motif domain containing 4A |
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ISO |
ClinVar Annotator: match by term: Lip and oral cavity carcinoma |
ClinVar |
PMID:28580594 |
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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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Smad4 |
SMAD family member 4 |
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ISO |
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RGD |
PMID:19841536 |
RGD:12880035 |
NCBI chr18:67,243,742...67,274,438
Ensembl chr18:67,243,742...67,274,438
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G |
Sntb1 |
syntrophin, beta 1 |
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ISO |
ClinVar Annotator: match by term: Lip and oral cavity carcinoma |
ClinVar |
PMID:28595731 |
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NCBI chr 7:87,060,926...87,329,315
Ensembl chr 7:87,060,926...87,329,315
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G |
Sod2 |
superoxide dismutase 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20618948 |
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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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G |
Stk11 |
serine/threonine kinase 11 |
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ISO |
ClinVar Annotator: match by term: Lip and oral cavity carcinoma |
ClinVar |
PMID:25741868 PMID:26467025 PMID:28492532 PMID:31775759 PMID:34326862 |
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NCBI chr 7:9,574,553...9,591,315
Ensembl chr 7:9,575,269...9,591,315
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G |
Tnfrsf10b |
TNF receptor superfamily member 10b |
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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 |
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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: 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:7478555 PMID:7565304 PMID:7651740 PMID:7700647 PMID:7706467 PMID:7707106 PMID:7718482 PMID:7732013 PMID:7737263 PMID:7761089 PMID:7783166 PMID:7791795 PMID:7881428 PMID:7885831 PMID:7887414 PMID:7966399 PMID:7981076 PMID:8001119 PMID:8012986 PMID:8023157 PMID:8062826 PMID:8080050 PMID:8099841 PMID:8102535 PMID:8118819 PMID:8134126 PMID:8164043 PMID: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:8631304 PMID:8633021 PMID:8649776 PMID:8675009 PMID:8688334 PMID:8710380 PMID:8718514 PMID:8816796 PMID:8825920 PMID:8829627 PMID:8829653 PMID:8843196 PMID:8869100 PMID:9020384 PMID:9047394 PMID:9049183 PMID:9049184 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:9418900 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:10206274 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:11521785 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:12782597 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:16933305 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:17940213 PMID:17947339 PMID:18208484 PMID:18248785 PMID:18270399 PMID:18307025 PMID:18373486 PMID:18391940 PMID:18453682 PMID:18511570 PMID:18555592 PMID:18628487 PMID:18685109 PMID:18689542 PMID:18818522 PMID:18937320 PMID:18940924 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:20586629 PMID:20589832 PMID:20593220 PMID:20658636 PMID:20689556 PMID:20693561 PMID:20805372 PMID:20878954 PMID:20948308 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:21440489 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:21630152 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:22264786 PMID:22265402 PMID:22319594 PMID:22373952 PMID:22427690 PMID:22455664 PMID:22484423 PMID:22551548 PMID:22553421 PMID:22553460 PMID:22619358 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:23028800 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:23939625 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:24813712 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:25765855 PMID:25787918 PMID:25886176 PMID:25896519 PMID:25925845 PMID:25927356 PMID:25945745 PMID:25952993 PMID:25961455 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:26513723 PMID:26554828 PMID:26556299 PMID:26572807 PMID:26580448 PMID:26585234 PMID:26619011 PMID:26628864 PMID:26655088 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:27101110 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:27557517 PMID:27601191 PMID:27616075 PMID:27619989 PMID:27621308 PMID:27622479 PMID:27663983 PMID:27680515 PMID:27683180 PMID:27714481 PMID:27724982 PMID:27726232 PMID:27730344 PMID:27813088 PMID:27866339 PMID:27873457 PMID:27895058 PMID:27911860 PMID:27923552 PMID:27959731 PMID:27993330 PMID:28135145 PMID:28152038 PMID:28154273 PMID:28160093 PMID:28166194 PMID:28176830 PMID:28202063 PMID:28230820 PMID:28279309 PMID:28349240 PMID:28356770 PMID:28369373 PMID:28387921 PMID:28453743 PMID:28453760 PMID:28472496 PMID:28477316 PMID:28477317 PMID:28486781 PMID:28492532 PMID:28503720 PMID:28573494 PMID:28724667 PMID:28756477 PMID:28767289 PMID:28772286 PMID:28776571 PMID:28802053 PMID:28861920 PMID:28864397 PMID:28873162 PMID:28949402 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:29666004 PMID:29752822 PMID:29753700 PMID:29844874 PMID:29875428 PMID:29922827 PMID:29946497 PMID:29955864 PMID:29956451 PMID:29958926 PMID:29979965 PMID:30042151 PMID:30067863 PMID:30076369 PMID:30092803 PMID:30099178 PMID:30107044 PMID:30107858 PMID:30128536 PMID:30147334 PMID:30152528 PMID:30216591 PMID:30224644 PMID:30252118 PMID:30262806 PMID:30264118 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:30828720 PMID:30840781 PMID:30918304 PMID:30982232 PMID:31016814 PMID:31060593 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:32292755 PMID:32295079 PMID:32318955 PMID:32371905 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:34067731 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:35626031 PMID:35820297 PMID:35875466 PMID:35884425 PMID:35938033 PMID:35974385 PMID:36003761 PMID:36219266 PMID:36329109 PMID:36988593 PMID:37563628 PMID:38153744 PMID:38201513 More...
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NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
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G |
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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|
G |
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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G |
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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G |
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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G |
Krt10 |
keratin 10 |
|
ISO |
ClinVar Annotator: match by term: Ichthyosis hystrix gravior |
OMIM ClinVar |
PMID:17355236 PMID:27212473 |
|
NCBI chr10:84,338,695...84,343,279
Ensembl chr10:84,338,706...84,343,701
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G |
Cd28 |
Cd28 molecule |
|
ISO |
ClinVar Annotator: match by term: Immunodeficiency 123 with HPV-related verrucosis |
OMIM ClinVar |
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|
NCBI chr 9:62,166,324...62,194,674
Ensembl chr 9:62,166,192...62,194,685
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G |
Cdkn1a |
cyclin-dependent kinase inhibitor 1A |
|
ISO |
protein:increased expression:nucleus: |
RGD |
PMID:19863319 PMID:21608063 |
RGD:8662353, RGD:8662357 |
NCBI chr20:7,149,177...7,159,727
Ensembl chr20:7,149,217...7,159,585
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G |
Hgf |
hepatocyte growth factor |
|
ISO |
protein:increased expression:inferior nasal concha: |
RGD |
PMID:22730814 |
RGD:8548614 |
NCBI chr 4:18,673,736...18,745,582
Ensembl chr 4:18,677,101...18,745,409
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|
G |
Kdr |
kinase insert domain receptor |
|
ISO |
protein:increased expression:inferior nasal concha: |
RGD |
PMID:12541477 |
RGD:8551779 |
NCBI chr14:32,217,871...32,261,018
Ensembl chr14:32,217,871...32,261,018
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G |
Vegfa |
vascular endothelial growth factor A |
|
ISO |
protein:increased expression:inferior nasal concha: |
RGD |
PMID:12541477 |
RGD:8551779 |
NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641
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G |
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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|
G |
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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G |
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:27283355 PMID:28151489 PMID:28492532 More...
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NCBI chr 2:115,175,275...115,249,034
Ensembl chr 2:115,174,984...115,249,032
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G |
Ptgs2 |
prostaglandin-endoperoxide synthase 2 |
|
ISO |
|
RGD |
PMID:19736197 |
RGD:5135499 |
NCBI chr13:62,163,936...62,172,193
Ensembl chr13:62,163,932...62,172,188
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G |
Serpina3n |
serpin family A member 3N |
|
ISO |
protein:decreased expression:serum |
RGD |
PMID:16273852 |
RGD:5147435 |
NCBI chr 6:123,323,623...123,331,181
Ensembl chr 6:123,323,629...123,332,433
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G |
Tap1 |
transporter 1, ATP binding cassette subfamily B member |
|
ISO |
|
RGD |
PMID:10618282 |
RGD:5147846 |
NCBI chr20:4,656,262...4,666,634
Ensembl chr20:4,656,263...4,666,901
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G |
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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G |
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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G |
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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G |
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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G |
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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G |
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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G |
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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G |
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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G |
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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G |
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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G |
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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G |
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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G |
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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G |
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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G |
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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G |
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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G |
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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G |
Mmp2 |
matrix metallopeptidase 2 |
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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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G |
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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G |
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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G |
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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G |
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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G |
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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G |
Xrcc1 |
X-ray repair cross complementing 1 |
|
ISO |
ClinVar Annotator: match by term: Laryngeal squamous cell carcinoma |
ClinVar |
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NCBI chr 1:80,140,495...80,168,705
Ensembl chr 1:80,141,207...80,168,701
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G |
Alk |
ALK receptor tyrosine kinase |
|
ISO |
ClinVar Annotator: match by term: Squamous cell lung carcinoma |
ClinVar |
PMID:24033266 PMID:24728327 PMID:25741868 PMID:28492532 |
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NCBI chr 6:22,879,653...23,599,636
Ensembl chr 6:22,880,625...23,598,034
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G |
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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G |
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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G |
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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G |
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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G |
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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G |
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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G |
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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G |
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:26619011 PMID:27236105 PMID:27276561 PMID:28492532 PMID:29907801 PMID:31336229 More...
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NCBI chr 4:68,375,484...68,510,652
Ensembl chr 4:68,384,649...68,510,463
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G |
Bsg |
basigin |
|
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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G |
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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G |
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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G |
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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G |
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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G |
Cdkn2a |
cyclin-dependent kinase inhibitor 2A |
|
ISO |
ClinVar Annotator: match by term: Squamous cell lung carcinoma |
ClinVar |
PMID:8552400 PMID:8573142 PMID:9053859 PMID:9660926 PMID:10498896 PMID:15235029 PMID:15860862 PMID:16354195 PMID:16905682 PMID:18024887 PMID:21325014 PMID:21462282 PMID:22368299 PMID:22841127 PMID:24659262 PMID:25356972 PMID:25741868 PMID:25780468 PMID:26681309 PMID:26775776 PMID:28492532 PMID:28592523 PMID:35001868 PMID:36139606 More...
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NCBI chr 5:103,984,949...103,992,143
Ensembl chr 5:103,984,949...104,003,149
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G |
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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G |
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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G |
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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G |
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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G |
Crebbp |
CREB binding protein |
|
ISO |
ClinVar Annotator: match by term: Squamous cell carcinoma of lung |
ClinVar |
PMID:21390126 PMID:21680795 PMID:21796119 PMID:22832583 PMID:23334668 PMID:23685749 PMID:23778141 PMID:25741868 PMID:26087898 PMID:26619011 PMID:27257180 PMID:28492532 PMID:28970362 PMID:29551561 PMID:33560380 More...
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NCBI chr10:11,335,551...11,461,888
Ensembl chr10:11,335,953...11,461,888
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G |
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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G |
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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G |
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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G |
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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G |
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...
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RGD:150429702, RGD:150429703 |
NCBI chr13:82,193,623...82,318,229
Ensembl chr13:82,195,463...82,317,363
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G |
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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G |
E2f3 |
E2F transcription factor 3 |
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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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G |
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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G |
Egfr |
epidermal growth factor receptor |
|
ISO |
ClinVar Annotator: match by term: Squamous cell lung carcinoma |
ClinVar |
PMID:20942962 PMID:24033266 PMID:25382819 PMID:25741868 PMID:27294619 PMID:28492532 PMID:30098700 PMID:30610926 PMID:31721094 PMID:32171629 PMID:32978515 PMID:32978518 PMID:1111234672 More...
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NCBI chr14:91,176,979...91,349,722
Ensembl chr14:91,177,067...91,344,382
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G |
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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G |
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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G |
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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G |
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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G |
Fbxw7 |
F-box and WD repeat domain containing 7 |
|
ISO |
ClinVar Annotator: match by term: Squamous cell carcinoma of lung | ClinVar Annotator: match by term: Squamous cell lung carcinoma |
ClinVar |
PMID:25741868 PMID:26619011 |
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NCBI chr 2:170,149,706...170,311,536
Ensembl chr 2:170,149,694...170,309,941
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G |
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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G |
Fgfr2 |
fibroblast growth factor receptor 2 |
|
ISO |
ClinVar Annotator: match by term: Squamous cell lung carcinoma |
ClinVar |
|
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NCBI chr 1:184,745,418...184,850,655
Ensembl chr 1:184,745,420...184,850,626
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G |
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:8589699 PMID:10471491 PMID:11038465 PMID:11879084 PMID:15772091 PMID:17384684 PMID:19749790 PMID:20301540 PMID:25606676 PMID:25614871 PMID:25741868 PMID:28492532 More...
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NCBI chr14:76,987,242...77,002,671
Ensembl chr14:76,987,993...77,003,341
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G |
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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G |
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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G |
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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G |
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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G |
Hras |
HRas proto-oncogene, GTPase |
|
ISO |
ClinVar Annotator: match by term: Squamous cell lung carcinoma |
ClinVar |
PMID:16372351 PMID:24033266 PMID:25741868 PMID:28492532 |
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NCBI chr 1:196,290,127...196,299,823
Ensembl chr 1:196,296,263...196,300,615
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G |
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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G |
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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G |
Kit |
KIT proto-oncogene receptor tyrosine kinase |
|
ISO |
ClinVar Annotator: match by term: Squamous cell lung carcinoma |
ClinVar |
PMID:25741868 |
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NCBI chr14:32,547,459...32,624,694
Ensembl chr14:32,548,877...32,624,652
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G |
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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G |
Kras |
KRAS proto-oncogene, GTPase |
|
ISO |
ClinVar Annotator: match by term: Squamous cell lung carcinoma |
ClinVar |
PMID:6695174 PMID:15696205 PMID:17704260 PMID:26242988 PMID:28492532 |
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NCBI chr 4:178,185,418...178,218,484
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G |
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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G |
Lrrc56 |
leucine rich repeat containing 56 |
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ISO |
ClinVar Annotator: match by term: Squamous cell lung carcinoma |
ClinVar |
PMID:16372351 PMID:24033266 PMID:25741868 PMID:28492532 |
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NCBI chr 1:196,299,843...196,315,170
Ensembl chr 1:196,299,846...196,315,172
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G |
Map2k1 |
mitogen activated protein kinase kinase 1 |
|
ISO |
ClinVar Annotator: match by term: Squamous cell lung carcinoma |
ClinVar |
PMID:25741868 |
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NCBI chr 8:64,683,449...64,754,900
Ensembl chr 8:64,683,449...64,755,147
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G |
Map2k7 |
mitogen activated protein kinase kinase 7 |
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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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G |
Met |
MET proto-oncogene, receptor tyrosine kinase |
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ISO |
ClinVar Annotator: match by term: Squamous cell lung carcinoma |
ClinVar |
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NCBI chr 4:45,790,456...45,898,139
Ensembl chr 4:45,790,791...45,897,876
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G |
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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G |
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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G |
Mir20a |
microRNA 20a |
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ISO |
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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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G |
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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G |
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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G |
Mir497 |
microRNA 497 |
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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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G |
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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G |
Pdgfra |
platelet derived growth factor receptor alpha |
|
ISO |
ClinVar Annotator: match by term: Squamous cell lung carcinoma |
ClinVar |
PMID:24033266 PMID:25741868 PMID:28492532 |
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NCBI chr14:33,005,838...33,054,347
Ensembl chr14:33,005,839...33,054,335
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G |
Pik3ca |
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha |
|
ISO |
ClinVar Annotator: match by term: Squamous cell lung carcinoma |
ClinVar |
PMID:25741868 |
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NCBI chr 2:115,175,275...115,249,034
Ensembl chr 2:115,174,984...115,249,032
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G |
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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G |
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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G |
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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G |
Pten |
phosphatase and tensin homolog |
|
ISO |
ClinVar Annotator: match by term: Squamous cell lung carcinoma |
ClinVar |
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NCBI chr 1:230,630,443...230,697,070
Ensembl chr 1:230,630,338...230,696,838
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G |
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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G |
Ptpn11 |
protein tyrosine phosphatase, non-receptor type 11 |
|
ISO |
ClinVar Annotator: match by term: Squamous cell carcinoma of lung |
ClinVar |
PMID:11704759 PMID:12634870 PMID:12717436 PMID:14644997 PMID:14974085 PMID:14982869 PMID:15385933 PMID:15842656 PMID:15928039 PMID:16830086 PMID:18470943 PMID:18678287 PMID:19047918 PMID:19509418 PMID:21930766 PMID:23825065 PMID:24033266 PMID:25741868 PMID:26619011 PMID:27783593 PMID:28492532 More...
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NCBI chr12:35,365,436...35,424,925
Ensembl chr12:35,383,144...35,424,925
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G |
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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G |
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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G |
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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G |
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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G |
Slc7a5 |
solute carrier family 7 member 5 |
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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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G |
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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G |
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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G |
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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G |
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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G |
Stk11 |
serine/threonine kinase 11 |
|
ISO |
ClinVar Annotator: match by term: Squamous cell lung carcinoma |
ClinVar |
PMID:15800014 PMID:17676035 PMID:25741868 PMID:28492532 |
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NCBI chr 7:9,574,553...9,591,315
Ensembl chr 7:9,575,269...9,591,315
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G |
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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G |
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
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G |
Tp53 |
tumor protein p53 |
|
ISO |
ClinVar Annotator: match by term: Squamous cell lung carcinoma |
ClinVar |
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:4122735 PMID:6736287 PMID:7565304 PMID:7651740 PMID:7707106 PMID:7732013 PMID:7750099 PMID:7783166 PMID:7791795 PMID:7881428 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: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:9407971 PMID:9525742 PMID:9546439 PMID:9569050 PMID:9572492 PMID:9598730 PMID:9627118 PMID:9632751 PMID:9662334 PMID:9667734 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:15977174 PMID:15982667 PMID:15993273 PMID:16206219 PMID:16209708 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:19171880 PMID:19336573 PMID:19367569 PMID:19378321 PMID:19405127 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:20195489 PMID:20234365 PMID:20308654 PMID:20364130 PMID:20407015 PMID:20505364 PMID:20506564 PMID:20516128 PMID:20522432 PMID:20589832 PMID:20693561 PMID:20805372 PMID:20972454 PMID:21056685 PMID:21059199 PMID:21113594 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: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: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: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:24940547 PMID:25119136 PMID:25123297 PMID:25157968 PMID:25186627 PMID:25293557 PMID:25339994 PMID:25428789 PMID:25433984 PMID:25503501 PMID:25525159 PMID:25584008 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:28975465 PMID:29025599 PMID:29070607 PMID:29126202 PMID:29324801 PMID:29470806 PMID:29478780 PMID:29489754 PMID:29581140 PMID:29752822 PMID:29753700 PMID:29875428 PMID:29946497 PMID:29979965 PMID:30076369 PMID:30099178 PMID:30128536 PMID:30152528 PMID:30216591 PMID:30224644 PMID:30299350 PMID:30306255 PMID:30311369 PMID:30318520 PMID:30327374 PMID:30352134 PMID:30450585 PMID:30546832 PMID:30630526 PMID:30675318 PMID:30720243 PMID:30816478 PMID:30840781 PMID:30918304 PMID:31016814 PMID:31050713 PMID:31081129 PMID:31105275 PMID:31119730 PMID:31121848 PMID:31127191 PMID:31206626 PMID:31300551 PMID:31494577 PMID:31748977 PMID:31775759 PMID:31882575 PMID:32000721 PMID:32187361 PMID:32295079 PMID:32318955 PMID:32401780 PMID:32475984 PMID:32658383 PMID:32817165 PMID:33208383 PMID:33245408 PMID:33257846 PMID:33300245 PMID:33332384 PMID:33372952 PMID:33407742 PMID:33471991 PMID:33758026 PMID:34026625 PMID:34266904 PMID:34805717 PMID:35938033 PMID:36988593 More...
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NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
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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
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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
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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
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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
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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
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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
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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
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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
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G |
Bap1 |
BRCA1 associated deubiquitinase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:24928783 PMID:25231345 PMID:26463840 PMID:26928227 PMID:29112861 PMID:24928783 More...
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RGD:9586039 |
NCBI chr16:6,446,709...6,455,535
Ensembl chr16:6,446,709...6,455,535
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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 |
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NCBI chr 2:234,840,880...234,850,520
Ensembl chr 2:234,840,858...234,850,523
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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
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G |
C9 |
complement C9 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23056237 |
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NCBI chr 2:55,573,094...55,621,345
Ensembl chr 2:55,572,992...55,621,338
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Calb2 |
calbindin 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22784439 |
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NCBI chr19:38,114,435...38,141,438
Ensembl chr19:38,114,424...38,141,438
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G |
Ccl27 |
C-C motif chemokine ligand 27 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25162674 |
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NCBI chr 5:56,941,402...56,948,511
Ensembl chr 5:56,941,402...56,948,506
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Ccl3 |
C-C motif chemokine ligand 3 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25162674 |
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NCBI chr10:68,451,388...68,452,938
Ensembl chr10:68,451,388...68,452,938
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G |
Ccl5 |
C-C motif chemokine ligand 5 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25162674 |
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NCBI chr10:68,322,826...68,327,380
Ensembl chr10:68,322,829...68,327,377
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G |
Ccl7 |
C-C motif chemokine ligand 7 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25162674 |
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NCBI chr10:67,016,446...67,018,296
Ensembl chr10:67,016,446...67,018,303
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G |
Ccne2 |
cyclin E2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25756049 |
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NCBI chr 5:24,285,078...24,298,258
Ensembl chr 5:24,284,922...24,297,632
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Cd40 |
CD40 molecule |
treatment |
ISO |
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RGD |
PMID:22002241 |
RGD:11522742 |
NCBI chr 3:153,790,372...153,805,279
Ensembl chr 3:153,790,449...153,805,534
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G |
Cdh5 |
cadherin 5 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28377727 |
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NCBI chr19:815,415...854,478
Ensembl chr19:815,411...854,368
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G |
Cdk6 |
cyclin-dependent kinase 6 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25756049 |
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NCBI chr 4:30,637,650...30,829,688
Ensembl chr 4:30,646,460...30,829,634
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G |
Cdkn1a |
cyclin-dependent kinase inhibitor 1A |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11453316 |
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NCBI chr20:7,149,177...7,159,727
Ensembl chr20:7,149,217...7,159,585
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G |
Cdkn2a |
cyclin-dependent kinase inhibitor 2A |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19223589 PMID:21526190 PMID:29112861 PMID:37441092 |
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NCBI chr 5:103,984,949...103,992,143
Ensembl chr 5:103,984,949...104,003,149
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G |
Cfap45 |
cilia and flagella associated protein 45 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26928227 |
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NCBI chr13:84,989,474...85,012,880
Ensembl chr13:84,981,728...85,012,878
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G |
Cldn10 |
claudin 10 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28377727 |
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NCBI chr15:95,862,785...95,954,526
Ensembl chr15:95,862,760...95,954,526
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G |
Cldn15 |
claudin 15 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28377727 |
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NCBI chr12:19,698,167...19,708,419
Ensembl chr12:19,698,337...19,706,819
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G |
Cldn4 |
claudin 4 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28377727 |
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NCBI chr12:21,751,638...21,753,436
Ensembl chr12:21,751,331...21,753,436
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G |
Cldn5 |
claudin 5 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28377727 |
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NCBI chr11:82,212,822...82,214,248
Ensembl chr11:82,211,475...82,214,992
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Cldn8 |
claudin 8 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28377727 |
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NCBI chr11:27,875,857...27,878,106
Ensembl chr11:27,875,692...27,878,513
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G |
Clec11a |
C-type lectin domain containing 11A |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25162674 |
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NCBI chr 1:94,800,456...94,809,002
Ensembl chr 1:94,801,496...94,804,633
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G |
Col12a1 |
collagen type XII alpha 1 chain |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25756049 |
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NCBI chr 8:80,547,592...80,665,665
Ensembl chr 8:80,547,593...80,665,686
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G |
Copg1 |
COPI coat complex subunit gamma 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26463840 |
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NCBI chr 4:120,366,540...120,392,502
Ensembl chr 4:120,366,542...120,415,616
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G |
Csf1 |
colony stimulating factor 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25162674 |
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NCBI chr 2:195,377,215...195,396,608
Ensembl chr 2:195,377,215...195,411,704
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G |
Ctnnb1 |
catenin beta 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22784439 |
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NCBI chr 8:120,640,008...120,667,110
Ensembl chr 8:120,639,995...120,667,111
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G |
Cxcl12 |
C-X-C motif chemokine ligand 12 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25162674 |
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NCBI chr 4:150,388,326...150,401,173
Ensembl chr 4:150,388,325...150,401,168
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G |
Cxcl13 |
C-X-C motif chemokine ligand 13 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23056237 |
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NCBI chr14:13,608,894...13,613,965
Ensembl chr14:13,608,902...13,613,933
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G |
Cxcl9 |
C-X-C motif chemokine ligand 9 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25162674 |
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NCBI chr14:15,722,868...15,727,779
Ensembl chr14:15,722,908...15,728,435
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G |
Ddx3x |
DEAD-box helicase 3, X-linked |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26928227 |
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NCBI chr X:9,479,532...9,493,169
Ensembl chr X:9,479,532...9,493,168
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G |
Ddx51 |
DEAD-box helicase 51 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26928227 |
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NCBI chr12:46,011,303...46,015,989
Ensembl chr12:46,011,070...46,016,200
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G |
Efemp1 |
EGF containing fibulin extracellular matrix protein 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27032653 |
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NCBI chr14:102,610,813...102,690,027
Ensembl chr14:102,610,908...102,690,018
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G |
Egfr |
epidermal growth factor receptor |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27032653 |
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NCBI chr14:91,176,979...91,349,722
Ensembl chr14:91,177,067...91,344,382
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G |
Enox2 |
ecto-NOX disulfide-thiol exchanger 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26807072 |
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NCBI chr X:128,270,941...128,593,074
Ensembl chr X:128,271,074...128,593,039
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G |
Ephx1 |
epoxide hydrolase 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16697254 |
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NCBI chr13:92,714,315...92,744,105
Ensembl chr13:92,714,315...92,790,235
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F9 |
coagulation factor IX |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23056237 |
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NCBI chr X:138,352,334...138,396,835
Ensembl chr X:138,352,298...138,396,835
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G |
Fgd6 |
FYVE, RhoGEF and PH domain containing 6 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25756049 |
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NCBI chr 7:28,597,609...28,712,908
Ensembl chr 7:28,597,609...28,712,456
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G |
Fgf18 |
fibroblast growth factor 18 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25756049 |
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NCBI chr10:17,706,011...17,737,702
Ensembl chr10:17,706,174...17,736,818
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G |
Fgf9 |
fibroblast growth factor 9 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25756049 |
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NCBI chr15:32,208,993...32,254,952
Ensembl chr15:32,210,074...32,253,309
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G |
Fn1 |
fibronectin 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23056237 |
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NCBI chr 9:73,196,044...73,264,695
Ensembl chr 9:73,196,044...73,264,678
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G |
Fth1 |
ferritin heavy chain 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26818092 |
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NCBI chr 1:206,627,142...206,629,430
Ensembl chr 1:206,627,103...206,725,424
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G |
Gpr27 |
G protein-coupled receptor 27 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25756049 |
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NCBI chr 4:132,328,364...132,329,497
Ensembl chr 4:132,328,364...132,329,497
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G |
Gpr37 |
G protein-coupled receptor 37 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25756049 |
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NCBI chr 4:54,138,860...54,160,927
Ensembl chr 4:54,138,870...54,161,001
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G |
Gstm1 |
glutathione S-transferase mu 1 |
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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
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G |
Hdac4 |
histone deacetylase 4 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25756049 |
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NCBI chr 9:92,503,467...92,750,164
Ensembl chr 9:92,507,611...92,750,164
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G |
Heph |
hephaestin |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26818092 |
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NCBI chr X:61,151,131...61,402,980
Ensembl chr X:61,296,345...61,402,980
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G |
Hgf |
hepatocyte growth factor |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25162674 |
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NCBI chr 4:18,673,736...18,745,582
Ensembl chr 4:18,677,101...18,745,409
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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
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G |
Icam2 |
intercellular adhesion molecule 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23056237 |
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NCBI chr10:91,308,608...91,319,536
Ensembl chr10:91,308,538...91,315,293
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G |
Ifng |
interferon gamma |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25162674 |
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NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375
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G |
Igf2bp3 |
insulin-like growth factor 2 mRNA binding protein 3 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23621518 |
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NCBI chr 4:78,060,494...78,195,007
Ensembl chr 4:78,060,494...78,194,865
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G |
Il12b |
interleukin 12B |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25162674 |
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NCBI chr10:28,888,832...28,903,802
Ensembl chr10:28,893,008...28,902,903
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G |
Il1a |
interleukin 1 alpha |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25162674 |
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NCBI chr 3:116,526,601...116,537,055
Ensembl chr 3:116,526,604...116,536,822
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G |
Il2ra |
interleukin 2 receptor subunit alpha |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25162674 |
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NCBI chr17:66,849,974...66,898,665
Ensembl chr17:66,849,974...66,898,697
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G |
Il3 |
interleukin 3 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25162674 |
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NCBI chr10:38,405,716...38,408,066
Ensembl chr10:38,405,716...38,408,066
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G |
Il4 |
interleukin 4 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25162674 |
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NCBI chr10:37,771,203...37,776,750
Ensembl chr10:37,771,203...37,776,750
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G |
Il6 |
interleukin 6 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25162674 |
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NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
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G |
Ilk |
integrin-linked kinase |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23045294 |
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NCBI chr 1:160,088,839...160,095,140
Ensembl chr 1:160,088,897...160,095,140
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G |
Kat5 |
lysine acetyltransferase 5 |
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ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:26780987 |
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NCBI chr 1:202,895,751...202,903,178
Ensembl chr 1:202,895,751...202,903,458
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