RGD DISEASE ONTOLOGY - ANNOTATIONS
RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term: Oropharyngeal Neoplasms
Accession: DOID:9000906
browse the term
Definition: Tumors or cancer of the OROPHARYNX.
Synonyms: exact_synonym: Oropharyngeal Neoplasm; oropharynx neoplasm; oropharynx neoplasms
primary_id: MESH:D009959
alt_id: RDO:0006247
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H2-Aa
histocompatibility 2, class II antigen A, alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27749845
NCBI chr17:34,501,718...34,506,797
Ensembl chr17:34,501,718...34,506,797
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H2-Ab1
histocompatibility 2, class II antigen A, beta 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27749845
NCBI chr17:34,482,201...34,488,392
Ensembl chr17:34,476,663...34,488,393
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H2-Eb1
histocompatibility 2, class II antigen E beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27749845
NCBI chr17:34,524,841...34,535,648
Ensembl chr17:34,524,841...34,535,648
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Ndrg1
N-myc downstream regulated gene 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22972152
NCBI chr15:66,801,167...66,841,490
Ensembl chr15:66,801,167...66,841,489
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Trp53
transformation related protein 53
disease_progression
ISO
RGD
PMID:11072161
RGD:8547874
NCBI chr11:69,471,174...69,482,699
Ensembl chr11:69,471,185...69,482,699
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Aqp1
aquaporin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16762588
NCBI chr 6:55,313,284...55,325,540
Ensembl chr 6:55,313,417...55,325,540
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Arid1a
AT-rich interaction domain 1A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23685749
NCBI chr 4:133,406,319...133,484,682
Ensembl chr 4:133,406,319...133,484,080
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Arid2
AT-rich interaction domain 2
ISO
ClinVar Annotator: match by term: Adenoid cystic carcinoma
ClinVar
NCBI chr15:96,185,403...96,303,344
Ensembl chr15:96,185,399...96,302,873
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Arid4b
AT-rich interaction domain 4B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23685749
NCBI chr13:14,238,334...14,374,188
Ensembl chr13:14,237,817...14,374,188
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Arid5b
AT-rich interaction domain 5B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23685749
NCBI chr10:67,928,353...68,114,596
Ensembl chr10:67,928,350...68,114,570
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Aspm
abnormal spindle microtubule assembly
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16762588
NCBI chr 1:139,381,450...139,421,826
Ensembl chr 1:139,382,510...139,421,829
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Atm
ataxia telangiectasia mutated
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23685749
NCBI chr 9:53,348,422...53,448,125
Ensembl chr 9:53,350,449...53,448,040
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Atr
ataxia telangiectasia and Rad3 related
treatment
ISO
RGD
PMID:32001675
RGD:150340693
NCBI chr 9:95,739,655...95,834,813
Ensembl chr 9:95,739,650...95,833,834
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Atrx
ATRX, chromatin remodeler
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23685749
NCBI chr X:104,841,221...104,972,978
Ensembl chr X:104,841,221...104,973,009
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Bap1
Brca1 associated protein 1
ISO
ClinVar Annotator: match by term: Adenocystic carcinoma | ClinVar Annotator: match by term: Adenoid cystic carcinoma
ClinVar
PMID:21642991 PMID:24894717 PMID:26166446 PMID:26452128 PMID:28492532
NCBI chr14:30,973,358...30,981,887
Ensembl chr14:30,973,407...30,981,901
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Bcl11a
BCL11 transcription factor A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16762588
NCBI chr11:24,026,498...24,123,558
Ensembl chr11:24,028,056...24,124,123
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Bcor
BCL6 interacting corepressor
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Adenoid cystic carcinoma
CTD ClinVar
PMID:23685749
NCBI chr X:11,902,976...12,026,769
Ensembl chr X:11,902,979...12,026,594
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Bcorl1
BCL6 co-repressor-like 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23685749
NCBI chr X:47,430,235...47,496,945
Ensembl chr X:47,430,235...47,496,926
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Brca1
breast cancer 1, early onset
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23685749
NCBI chr11:101,379,587...101,442,808
Ensembl chr11:101,379,590...101,442,781
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Brd1
bromodomain containing 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23685749
NCBI chr15:88,571,237...88,618,508
Ensembl chr15:88,571,237...88,618,436
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Ccnd1
cyclin D1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16762588
NCBI chr 7:144,483,668...144,493,568
Ensembl chr 7:144,483,668...144,493,662
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Cdh1
cadherin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17520682
NCBI chr 8:107,329,982...107,396,879
Ensembl chr 8:107,329,983...107,396,878
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Cmtr2
cap methyltransferase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23685749
NCBI chr 8:110,941,977...110,951,121
Ensembl chr 8:110,942,297...110,951,118
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Cntn6
contactin 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23685749
NCBI chr 6:104,469,566...104,840,367
Ensembl chr 6:104,469,751...104,840,367
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Crebbp
CREB binding protein
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Adenocystic carcinoma
CTD ClinVar
PMID:21390126 PMID:21680795 PMID:21796119 PMID:22832583 PMID:23334668 PMID:23685749 PMID:23778141 PMID:25741868 PMID:26087898 PMID:26619011 PMID:27257180 PMID:28492532 PMID:28970362 PMID:29551561 PMID:33560380 More...
NCBI chr16:3,899,198...4,031,864
Ensembl chr16:3,899,192...4,031,861
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Dapk1
death associated protein kinase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16762588
NCBI chr13:60,749,506...60,911,005
Ensembl chr13:60,749,761...60,911,005
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Dtl
denticleless E3 ubiquitin protein ligase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16762588
NCBI chr 1:191,269,468...191,307,656
Ensembl chr 1:191,269,468...191,307,656
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Dtx4
deltex 4, E3 ubiquitin ligase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23685749
NCBI chr19:12,443,700...12,479,509
Ensembl chr19:12,443,702...12,478,818
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Efhd1
EF hand domain containing 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16762588
NCBI chr 1:87,192,075...87,238,563
Ensembl chr 1:87,192,085...87,238,561
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En1
engrailed 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16762588
NCBI chr 1:120,530,246...120,535,719
Ensembl chr 1:120,530,147...120,535,721
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Ep300
E1A binding protein p300
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23685749
NCBI chr15:81,470,329...81,536,273
Ensembl chr15:81,469,552...81,536,278
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Erbin
Erbb2 interacting protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23685749
NCBI chr13:103,955,294...104,057,094
Ensembl chr13:103,955,295...104,057,022
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Espl1
extra spindle pole bodies 1, separase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16762588
NCBI chr15:102,204,688...102,232,792
Ensembl chr15:102,204,701...102,232,792
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Fanca
Fanconi anemia, complementation group A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16762588
NCBI chr 8:123,993,033...124,045,390
Ensembl chr 8:123,995,039...124,045,315
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Fat1
FAT atypical cadherin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16762588
NCBI chr 8:45,386,137...45,505,294
Ensembl chr 8:45,388,484...45,505,294
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Fbxw7
F-box and WD-40 domain protein 7
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Adenocystic carcinoma
CTD ClinVar
PMID:23685749 PMID:26619011
NCBI chr 3:84,721,901...84,886,505
Ensembl chr 3:84,722,575...84,886,505
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Fgf16
fibroblast growth factor 16
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23685749
NCBI chr X:104,808,083...104,820,138
Ensembl chr X:104,807,885...104,818,545
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Fgfr2
fibroblast growth factor receptor 2
ISO
ClinVar Annotator: match by term: Adenoid cystic carcinoma
ClinVar
PMID:26619011
NCBI chr 7:129,764,181...129,868,538
Ensembl chr 7:129,764,181...132,725,079
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Fgfr4
fibroblast growth factor receptor 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23685749
NCBI chr13:55,300,631...55,316,572
Ensembl chr13:55,300,453...55,316,572
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Foxo3
forkhead box O3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23685749
NCBI chr10:42,057,841...42,152,691
Ensembl chr10:42,057,837...42,152,751
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Foxp2
forkhead box P2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23685749
NCBI chr 6:14,901,348...15,441,976
Ensembl chr 6:14,901,348...15,441,976
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Gas2
growth arrest specific 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16762588
NCBI chr 7:51,511,560...51,644,753
Ensembl chr 7:51,511,763...51,644,723
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Gas6
growth arrest specific 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16762588
NCBI chr 8:13,515,374...13,544,535
Ensembl chr 8:13,515,374...13,544,490
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Gins2
GINS complex subunit 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16762588
NCBI chr 8:121,308,005...121,315,814
Ensembl chr 8:121,305,372...121,316,043
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Gucy1a1
guanylate cyclase 1, soluble, alpha 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16762588
NCBI chr 3:81,999,734...82,053,253
Ensembl chr 3:81,999,734...82,053,096
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H1f4
H1.4 linker histone, cluster member
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23685749
NCBI chr13:23,805,760...23,806,541
Ensembl chr13:23,804,612...23,806,541
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H2ac8
H2A clustered histone 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23685749
NCBI chr13:23,754,837...23,755,394
Ensembl chr13:23,754,691...23,755,394
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Homer3
homer scaffolding protein 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16762588
NCBI chr 8:70,735,529...70,747,011
Ensembl chr 8:70,735,477...70,747,011
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Hras
Harvey rat sarcoma virus oncogene
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Adenocystic carcinoma
CTD ClinVar
PMID:11150980 PMID:16155195 PMID:16170316 PMID:16329078 PMID:16372351 PMID:16443854 PMID:16835863 PMID:16881968 PMID:16969868 PMID:17054105 PMID:17412879 PMID:17601930 PMID:17979197 PMID:18039947 PMID:18042262 PMID:18247425 PMID:18978862 PMID:19206176 PMID:19371735 PMID:19382114 PMID:19669404 PMID:20301680 PMID:20660566 PMID:20979192 PMID:21686750 PMID:21834037 PMID:21850009 PMID:22087699 PMID:22317973 PMID:22420426 PMID:22495892 PMID:22499344 PMID:22683711 PMID:22926243 PMID:23093928 PMID:23429430 PMID:23685749 PMID:23751039 PMID:24033266 PMID:24129065 PMID:24169525 PMID:24224811 PMID:24803665 PMID:25157968 PMID:25741868 PMID:25914166 PMID:26467025 PMID:26619011 PMID:27195699 PMID:27589201 PMID:28027064 PMID:28139825 PMID:28492532 PMID:29493581 PMID:31222966 PMID:31394527 PMID:31775759 PMID:33372952 PMID:34008892 More...
NCBI chr 7:140,770,839...140,773,938
Ensembl chr 7:140,769,018...140,773,918
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Idh1
isocitrate dehydrogenase 1 (NADP+), soluble
ISO
ClinVar Annotator: match by term: Adenocystic carcinoma
ClinVar
PMID:18772396 PMID:19657110 PMID:19798509 PMID:19818334 PMID:20946881 PMID:21352804 PMID:21446021 PMID:22160010 PMID:22397365 PMID:22417203 PMID:22898539 PMID:23558169 PMID:24606448 PMID:25043048 PMID:25157968 PMID:25741868 PMID:26619011 PMID:27993330 PMID:30231226 PMID:36201590 More...
NCBI chr 1:65,197,775...65,225,638
Ensembl chr 1:65,197,775...65,225,659
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Igfbp2
insulin-like growth factor binding protein 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16762588
NCBI chr 1:72,863,650...72,891,633
Ensembl chr 1:72,863,662...72,891,633
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Il17rd
interleukin 17 receptor D
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23685749
NCBI chr14:26,760,990...26,829,243
Ensembl chr14:26,760,898...26,829,243
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Insrr
insulin receptor-related receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23685749
NCBI chr 3:87,704,215...87,723,408
Ensembl chr 3:87,704,258...87,723,408
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Irx4
Iroquois homeobox 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16762588
NCBI chr13:73,407,708...73,417,741
Ensembl chr13:73,408,598...73,417,727
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Isyna1
myo-inositol 1-phosphate synthase A1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16762588
NCBI chr 8:71,047,131...71,049,940
Ensembl chr 8:71,047,023...71,049,940
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Itgb4
integrin beta 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16762588
NCBI chr11:115,865,556...115,899,238
Ensembl chr11:115,865,535...115,899,238
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Jag1
jagged 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16762588
NCBI chr 2:136,923,371...136,958,440
Ensembl chr 2:136,923,376...136,958,564
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Jak3
Janus kinase 3
ISO
ClinVar Annotator: match by term: Adenocystic carcinoma
ClinVar
PMID:14615376 PMID:28492532 PMID:33040328
NCBI chr 8:72,129,027...72,143,221
Ensembl chr 8:72,128,940...72,143,219
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Jmjd1c
jumonji domain containing 1C
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23685749
NCBI chr10:66,932,189...67,092,105
Ensembl chr10:66,931,904...67,092,105
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Kansl1
KAT8 regulatory NSL complex subunit 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23685749
NCBI chr11:104,224,327...104,360,584
Ensembl chr11:104,224,055...104,359,687
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Kat6a
K(lysine) acetyltransferase 6A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23685749
NCBI chr 8:23,349,458...23,433,275
Ensembl chr 8:23,349,551...23,433,275
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Kdm6a
lysine (K)-specific demethylase 6A
exacerbates
ISO
CTD Direct Evidence: marker/mechanism DNA:mutations:multiple: (human) DNA:splice-site mutation, missense mutations:splice junction, CDS:multiple: (human)
CTD RGD
PMID:23685749 PMID:31483290 PMID:23685749
RGD:150429736 , RGD:150429732
NCBI chr X:18,027,101...18,147,061
Ensembl chr X:18,028,814...18,146,175
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Kdm6b
KDM1 lysine (K)-specific demethylase 6B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23685749
NCBI chr11:69,289,334...69,311,188
Ensembl chr11:69,289,334...69,304,501
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Kmt2c
lysine (K)-specific methyltransferase 2C
disease_progression
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:23685749 PMID:31483290
RGD:150429736
NCBI chr 5:25,476,793...25,703,853
Ensembl chr 5:25,476,796...25,703,781
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Kras
Kirsten rat sarcoma viral oncogene homolog
ISO
ClinVar Annotator: match by term: Adenocystic carcinoma
ClinVar
PMID:6695174 PMID:12460918 PMID:15696205 PMID:16361624 PMID:16618717 PMID:17384584 PMID:17704260 PMID:18316791 PMID:18794081 PMID:19018267 PMID:19114683 PMID:19255327 PMID:19679400 PMID:19773371 PMID:20921462 PMID:20921465 PMID:21228335 PMID:21975775 PMID:22722830 PMID:23182985 PMID:23406027 PMID:25157968 PMID:26242988 PMID:28492532 More...
NCBI chr 6:145,162,425...145,197,631
Ensembl chr 6:145,162,425...145,195,965
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Krt15
keratin 15
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16762588
NCBI chr11:100,022,585...100,026,775
Ensembl chr11:100,022,584...100,026,754
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Krt5
keratin 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16762588
NCBI chr15:101,615,504...101,621,340
Ensembl chr15:101,615,505...101,621,333
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Lrrc56
leucine rich repeat containing 56
ISO
ClinVar Annotator: match by term: Adenocystic carcinoma
ClinVar
PMID:11150980 PMID:16155195 PMID:16170316 PMID:16329078 PMID:16372351 PMID:16443854 PMID:16835863 PMID:16881968 PMID:16969868 PMID:17054105 PMID:17412879 PMID:17601930 PMID:17979197 PMID:18039947 PMID:18042262 PMID:18247425 PMID:18978862 PMID:19206176 PMID:19371735 PMID:19382114 PMID:19669404 PMID:20301680 PMID:20660566 PMID:20979192 PMID:21686750 PMID:21834037 PMID:21850009 PMID:22087699 PMID:22317973 PMID:22420426 PMID:22495892 PMID:22499344 PMID:22683711 PMID:22926243 PMID:23093928 PMID:23429430 PMID:23751039 PMID:24033266 PMID:24129065 PMID:24169525 PMID:24224811 PMID:24803665 PMID:25157968 PMID:25741868 PMID:25914166 PMID:26467025 PMID:26619011 PMID:27195699 PMID:27589201 PMID:28027064 PMID:28139825 PMID:28492532 PMID:29493581 PMID:31222966 PMID:31394527 PMID:31775759 PMID:33372952 PMID:34008892 More...
NCBI chr 7:140,774,024...140,789,968
Ensembl chr 7:140,774,070...140,789,968
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Magi1
membrane associated guanylate kinase, WW and PDZ domain containing 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23685749
NCBI chr 6:93,652,434...94,260,906
Ensembl chr 6:93,652,436...94,260,898
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Magi2
membrane associated guanylate kinase, WW and PDZ domain containing 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23685749
NCBI chr 5:19,431,787...20,909,790
Ensembl chr 5:19,432,034...20,909,790
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Maml3
mastermind like transcriptional coactivator 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23685749
NCBI chr 3:51,595,032...52,012,740
Ensembl chr 3:51,593,328...52,012,497
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Map2k2
mitogen-activated protein kinase kinase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23685749
NCBI chr10:80,941,749...80,960,531
Ensembl chr10:80,941,749...80,969,809
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Marcks
myristoylated alanine rich protein kinase C substrate
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16762588
NCBI chr10:37,009,239...37,014,922
Ensembl chr10:37,009,371...37,014,916
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Mark2
MAP/microtubule affinity regulating kinase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16762588
NCBI chr19:7,252,761...7,319,222
Ensembl chr19:7,252,761...7,319,225
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Mecom
MDS1 and EVI1 complex locus
ISO
ClinVar Annotator: match by term: Adenoid cystic carcinoma
ClinVar
NCBI chr 3:30,005,445...30,563,937
Ensembl chr 3:30,005,445...30,602,157
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Mga
MAX gene associated
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23685749
NCBI chr 2:119,702,974...119,800,610
Ensembl chr 2:119,727,709...119,800,062
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Mier2
MIER family member 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16762588
NCBI chr10:79,376,079...79,395,229
Ensembl chr10:79,376,079...79,391,033
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Mlc1
megalencephalic leukoencephalopathy with subcortical cysts 1 homolog (human)
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16762588
NCBI chr15:88,840,087...88,863,192
Ensembl chr15:88,840,087...88,863,210
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Morf4l1
mortality factor 4 like 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23685749
NCBI chr 9:89,973,722...89,996,873
Ensembl chr 9:89,973,718...89,996,827
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Myb
myeloblastosis oncogene
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23685749 PMID:26829750
NCBI chr10:21,000,829...21,036,883
Ensembl chr10:21,000,834...21,036,883
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Mybl1
myeloblastosis oncogene-like 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23685749
NCBI chr 1:9,737,632...9,770,664
Ensembl chr 1:9,737,640...9,770,434
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Mycbp
MYC binding protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23685749
NCBI chr 4:123,798,806...123,806,043
Ensembl chr 4:123,798,625...123,806,062
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Mycn
v-myc avian myelocytomatosis viral related oncogene, neuroblastoma derived
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23685749
NCBI chr12:12,986,094...12,991,837
Ensembl chr12:12,986,094...12,991,915
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Neto2
neuropilin (NRP) and tolloid (TLL)-like 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16762588
NCBI chr 8:86,363,347...86,428,011
Ensembl chr 8:86,363,217...86,427,553
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Nfib
nuclear factor I/B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23685749
NCBI chr 4:82,208,410...82,424,988
Ensembl chr 4:82,208,410...82,623,987
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Notch1
notch 1
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Adenoid cystic carcinoma
CTD ClinVar
PMID:23685749
NCBI chr 2:26,347,914...26,393,834
Ensembl chr 2:26,347,915...26,406,675
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Nsd1
nuclear receptor-binding SET-domain protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23685749
NCBI chr13:55,357,595...55,466,138
Ensembl chr13:55,357,595...55,466,138
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Ntrk3
neurotrophic tyrosine kinase, receptor, type 3
treatment
ISO
RGD
PMID:23027130
RGD:150519921
NCBI chr 7:77,825,711...78,228,865
Ensembl chr 7:77,825,707...78,387,760
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Pcsk1n
proprotein convertase subtilisin/kexin type 1 inhibitor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16762588
NCBI chr X:7,786,061...7,790,649
Ensembl chr X:7,786,061...7,790,649
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Pdzk1
PDZ domain containing 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16762588
NCBI chr 3:96,736,772...96,778,242
Ensembl chr 3:96,736,600...96,778,242
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Pik3ca
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Adenocystic carcinoma
CTD ClinVar
PMID:15930273 PMID:17376864 PMID:18074223 PMID:19366826 PMID:22120714 PMID:22658544 PMID:22949682 PMID:23685749 PMID:23946963 PMID:24033266 PMID:24782230 PMID:25157968 PMID:25741868 PMID:26619011 PMID:27631024 PMID:28151489 PMID:28492532 PMID:29446767 PMID:34008892 More...
NCBI chr 3:32,451,203...32,520,256
Ensembl chr 3:32,451,820...32,522,635
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Prkdc
protein kinase, DNA activated, catalytic polypeptide
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23685749
NCBI chr16:15,455,698...15,660,103
Ensembl chr16:15,455,730...15,660,099
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Pten
phosphatase and tensin homolog
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23685749
NCBI chr19:32,734,977...32,803,560
Ensembl chr19:32,734,897...32,803,560
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Pygb
brain glycogen phosphorylase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16762588
NCBI chr 2:150,628,716...150,673,668
Ensembl chr 2:150,628,655...150,673,678
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Rbfox2
RNA binding protein, fox-1 homolog (C. elegans) 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16762588
NCBI chr15:76,963,190...77,193,058
Ensembl chr15:76,963,190...77,191,204
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Serpinf1
serine (or cysteine) peptidase inhibitor, clade F, member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16762588
NCBI chr11:75,300,855...75,313,449
Ensembl chr11:75,300,595...75,313,527
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Setd2
SET domain containing 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23685749
NCBI chr 9:110,361,368...110,447,703
Ensembl chr 9:110,358,262...110,447,701
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Sf3b1
splicing factor 3b, subunit 1
ISO
ClinVar Annotator: match by term: Adenoid cystic carcinoma
ClinVar
PMID:25741868 PMID:26619011
NCBI chr 1:55,024,328...55,066,660
Ensembl chr 1:55,024,328...55,066,640
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Slc24a3
solute carrier family 24 (sodium/potassium/calcium exchanger), member 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16762588
NCBI chr 2:145,009,695...145,484,086
Ensembl chr 2:145,009,674...145,484,086
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Slc3a2
solute carrier family 3 (activators of dibasic and neutral amino acid transport), member 2
disease_progression
ISO
RGD
PMID:23516127
RGD:151361211
NCBI chr19:8,684,931...8,700,733
Ensembl chr19:8,684,246...8,700,733
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Slc7a5
solute carrier family 7 (cationic amino acid transporter, y+ system), member 5
disease_progression
ISO
RGD
PMID:23516127
RGD:151361211
NCBI chr 8:122,607,885...122,634,425
Ensembl chr 8:122,607,889...122,634,433
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Smarca2
SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Adenoid cystic carcinoma
CTD ClinVar
PMID:23685749
NCBI chr19:26,582,578...26,755,721
Ensembl chr19:26,582,450...26,755,722
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Smarcb1
SWI/SNF related BAF chromatin remodeling complex subunit B1
ISO
ClinVar Annotator: match by term: Adenoid cystic carcinoma
ClinVar
NCBI chr10:75,732,603...75,757,448
Ensembl chr10:75,732,603...75,757,451
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Smarce1
SWI/SNF related BAF chromatin remodeling complex subunit E1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23685749
NCBI chr11:99,099,873...99,121,843
Ensembl chr11:99,099,873...99,121,843
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Smc1a
structural maintenance of chromosomes 1A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23685749
NCBI chr X:150,799,386...150,844,969
Ensembl chr X:150,799,424...150,845,690
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Son
Son DNA binding protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16762588
NCBI chr16:91,444,712...91,476,080
Ensembl chr16:91,444,394...91,476,109
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Sox11
SRY (sex determining region Y)-box 11
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16762588
NCBI chr12:27,384,267...27,392,717
Ensembl chr12:27,384,263...27,392,573
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Sox4
SRY (sex determining region Y)-box 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16762588
NCBI chr13:29,132,902...29,137,682
Ensembl chr13:29,132,902...29,137,696
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Srcap
Snf2-related CREBBP activator protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23685749
NCBI chr 7:127,111,155...127,160,391
Ensembl chr 7:127,111,155...127,160,391 Ensembl chr 7:127,111,155...127,160,391
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St3gal4
ST3 beta-galactoside alpha-2,3-sialyltransferase 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16762588
NCBI chr 9:34,957,872...35,028,160
Ensembl chr 9:34,957,872...35,030,564
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Stat3
signal transducer and activator of transcription 3
ISO
ClinVar Annotator: match by term: Adenoid cystic carcinoma
ClinVar
NCBI chr11:100,777,632...100,830,447
Ensembl chr11:100,775,924...100,830,366
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Tlk1
tousled-like kinase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23685749
NCBI chr 2:70,542,751...70,656,505
Ensembl chr 2:70,542,751...70,656,072
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Top2a
topoisomerase (DNA) II alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16762588
NCBI chr11:98,883,773...98,915,037
Ensembl chr11:98,883,769...98,915,015
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Trp53
transformation related protein 53
disease_progression
ISO
ClinVar Annotator: match by term: Adenocystic carcinoma CTD Direct Evidence: marker/mechanism
ClinVar CTD RGD
PMID:1673792 PMID:1686725 PMID:6736287 PMID:7707106 PMID:7881428 PMID:7885831 PMID:8023157 PMID:8080050 PMID:8364550 PMID:8869100 PMID:10713666 PMID:10871862 PMID:11479205 PMID:11782540 PMID:11896595 PMID:11920788 PMID:11920959 PMID:12826609 PMID:14559903 PMID:16322298 PMID:16494995 PMID:16736287 PMID:16818505 PMID:16861262 PMID:17541742 PMID:17606709 PMID:17724467 PMID:18208484 PMID:18818522 PMID:19468865 PMID:20128691 PMID:20407015 PMID:20505364 PMID:20522432 PMID:21343334 PMID:21514416 PMID:21519010 PMID:21626334 PMID:21761402 PMID:22186996 PMID:22915647 PMID:23246812 PMID:23259501 PMID:23625637 PMID:23685749 PMID:24033266 PMID:24384472 PMID:24728327 PMID:25503501 PMID:25584008 PMID:25741868 PMID:25952993 PMID:26230955 PMID:26270727 PMID:26467025 PMID:26585234 PMID:26619011 PMID:27276561 PMID:27463065 PMID:27489289 PMID:27533082 PMID:27680515 PMID:27895058 PMID:27959731 PMID:28369373 PMID:28492532 PMID:28861920 PMID:29070607 PMID:29076966 PMID:29324801 PMID:29470806 PMID:29489754 PMID:29752822 PMID:29979965 PMID:30224644 PMID:30299350 PMID:30327374 PMID:30630526 PMID:30720243 PMID:30840781 PMID:31119730 PMID:31775759 PMID:32019277 PMID:33332384 PMID:33372952 PMID:34805717 PMID:16249115 More...
RGD:8547828
NCBI chr11:69,471,174...69,482,699
Ensembl chr11:69,471,185...69,482,699
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Uhrf1
ubiquitin-like, containing PHD and RING finger domains, 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23685749
NCBI chr17:56,610,405...56,630,486
Ensembl chr17:56,610,321...56,630,486
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Vcan
versican
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16762588
NCBI chr13:89,803,429...89,891,146
Ensembl chr13:89,803,431...89,890,628
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Wnt5b
wingless-type MMTV integration site family, member 5B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16762588
NCBI chr 6:119,409,493...119,521,847
Ensembl chr 6:119,409,492...119,521,308
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Xrn2
5'-3' exoribonuclease 2
ISO
DNA:hypermethylation:3' utr: (human)
RGD
PMID:21692051
RGD:11041796
NCBI chr 2:146,854,672...146,919,922
Ensembl chr 2:146,854,916...146,919,920
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Hnf1a
HNF1 homeobox A
IMP
RGD
PMID:10489374
RGD:150540314
NCBI chr 5:115,087,039...115,109,121
Ensembl chr 5:115,087,039...115,109,153
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Atr
ataxia telangiectasia and Rad3 related
ISO
ClinVar Annotator: match by term: Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome
OMIM ClinVar
PMID:9536098 PMID:15987455 PMID:17010193 PMID:17576681 PMID:18414213 PMID:22341969 PMID:24033266 PMID:25741868 PMID:26845104 PMID:28492532 PMID:28518168 PMID:30262796 PMID:30995915 PMID:32461654 PMID:32522261 PMID:32606146 PMID:33057211 PMID:34008015 More...
NCBI chr 9:95,739,655...95,834,813
Ensembl chr 9:95,739,650...95,833,834
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Cxcl15
C-X-C motif chemokine ligand 15
ISO
mRNA:increased expression:head, neck (human)
RGD
PMID:31452775
RGD:150520018
NCBI chr 5:90,942,393...90,950,926
Ensembl chr 5:90,942,393...90,950,926
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Ern1
endoplasmic reticulum to nucleus signalling 1
disease_progression
ISO
RGD
PMID:31187548
RGD:32716423
NCBI chr11:106,285,474...106,378,701
Ensembl chr11:106,285,476...106,378,678
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Mir155
microRNA 155
treatment
ISO
RGD
PMID:28347920
RGD:24922223
NCBI chr16:84,511,028...84,511,092
Ensembl chr16:84,511,028...84,511,092
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Mir155
microRNA 155
disease_progression
ISO
RGD
PMID:28668836
RGD:24922215
NCBI chr16:84,511,028...84,511,092
Ensembl chr16:84,511,028...84,511,092
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Mtus1
mitochondrial tumor suppressor 1
disease_progression
ISO
RGD
PMID:25885343
RGD:25330345
NCBI chr 8:41,443,949...41,587,318
Ensembl chr 8:41,443,951...41,586,763
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Xrcc4
X-ray repair complementing defective repair in Chinese hamster cells 4
susceptibility
ISO
DNA:SNP:intron: (rs13180356) (human)
RGD
PMID:26035306
RGD:151361290
NCBI chr13:89,997,033...90,237,727
Ensembl chr13:89,922,146...90,237,727
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Cxcl15
C-X-C motif chemokine ligand 15
ISO
mRNA:increased expression:head, neck (human)
RGD
PMID:31452775
RGD:150520018
NCBI chr 5:90,942,393...90,950,926
Ensembl chr 5:90,942,393...90,950,926
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Fgfr3
fibroblast growth factor receptor 3
severity
ISO
associated with human papillomavirus;protein:decreased expression:tumor cells (human)
RGD
PMID:30061236
RGD:36947883
NCBI chr 5:33,879,068...33,894,412
Ensembl chr 5:33,879,018...33,894,412
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