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.
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Ern1
endoplasmic reticulum to nucleus signaling 1
disease_progression
ISO
RGD
PMID:31187548
RGD:32716423
NCBI chr10:91,326,889...91,421,201
Ensembl chr10:91,330,654...91,421,029
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Mir155
microRNA 155
treatment
ISO
RGD
PMID:28347920
RGD:24922223
NCBI chr11:23,774,654...23,774,718
Ensembl chr11:23,774,654...23,774,718
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Aqp1
aquaporin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16762588
NCBI chr 4:84,482,512...84,494,690
Ensembl chr 4:84,482,512...84,494,690
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Arid1a
AT-rich interaction domain 1A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23685749
NCBI chr 5:145,908,173...145,981,552
Ensembl chr 5:145,908,181...145,985,564
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Arid2
AT-rich interaction domain 2
ISO
ClinVar Annotator: match by term: Adenoid cystic carcinoma
ClinVar
NCBI chr 7:127,447,192...127,565,987
Ensembl chr 7:127,447,278...127,563,512
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Arid4b
AT-rich interaction domain 4B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23685749
NCBI chr17:51,138,419...51,262,894
Ensembl chr17:51,138,535...51,262,906
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Arid5b
AT-rich interaction domain 5B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23685749
NCBI chr20:20,307,731...20,490,746
Ensembl chr20:20,307,731...20,487,433
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Aspm
assembly factor for spindle microtubules
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16762588
NCBI chr13:51,074,849...51,123,755
Ensembl chr13:51,074,849...51,123,755
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Atm
ATM serine/threonine kinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23685749
NCBI chr 8:53,828,741...53,932,773
Ensembl chr 8:53,831,093...53,932,437
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Atr
ATR serine/threonine kinase
treatment
ISO
RGD
PMID:32001675
RGD:150340693
NCBI chr 8:96,426,704...96,524,152
Ensembl chr 8:96,426,724...96,524,136
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Atrx
ATRX, chromatin remodeler
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23685749
NCBI chr X:70,850,981...70,997,330
Ensembl chr X:70,850,981...70,997,330
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Bap1
BRCA1 associated deubiquitinase 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 chr16:6,446,709...6,455,535
Ensembl chr16:6,446,709...6,455,535
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Bcl11a
BCL11 transcription factor A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16762588
NCBI chr14:98,029,018...98,124,181
Ensembl chr14:98,030,461...98,124,180
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Bcor
BCL6 co-repressor
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Adenoid cystic carcinoma
CTD ClinVar
PMID:23685749
NCBI chr X:10,609,756...10,729,613
Ensembl chr X:10,687,732...10,729,613
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Bcorl1
BCL6 co-repressor-like 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23685749
NCBI chr X:127,516,504...127,584,529
Ensembl chr X:127,537,538...127,584,087
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Brca1
BRCA1, DNA repair associated
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23685749
NCBI chr10:86,417,441...86,477,762
Ensembl chr10:86,418,000...86,477,304
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Brd1
bromodomain containing 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23685749
NCBI chr 7:119,774,187...119,822,032
Ensembl chr 7:119,774,188...119,822,031
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Ccnd1
cyclin D1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16762588
NCBI chr 1:200,089,002...200,098,524
Ensembl chr 1:200,089,002...200,098,602
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Cdh1
cadherin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17520682
NCBI chr19:34,492,371...34,561,775
Ensembl chr19:34,492,371...34,561,775
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Cmtr2
cap methyltransferase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23685749
NCBI chr19:38,190,718...38,197,549
Ensembl chr19:38,190,642...38,197,804
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Cntn6
contactin 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23685749
NCBI chr 4:137,354,886...137,751,712
Ensembl chr 4:137,355,367...137,751,119
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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 chr10:11,335,551...11,461,888
Ensembl chr10:11,335,953...11,461,888
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Dapk1
death associated protein kinase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16762588
NCBI chr17:3,930,223...4,090,991
Ensembl chr17:3,930,213...4,090,991
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Dtl
denticleless E3 ubiquitin protein ligase homolog
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16762588
NCBI chr13:103,115,810...103,155,029
Ensembl chr13:103,117,186...103,154,890
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Dtx4
deltex E3 ubiquitin ligase 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23685749
NCBI chr 1:209,457,719...209,545,163
Ensembl chr 1:209,460,735...209,492,818
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Efhd1
EF-hand domain family, member D1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16762588
NCBI chr 9:87,938,259...87,984,917
Ensembl chr 9:87,938,284...87,984,917
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En1
engrailed homeobox 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16762588
NCBI chr13:31,750,892...31,756,477
Ensembl chr13:31,751,545...31,755,943
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Ep300
E1A binding protein p300
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23685749
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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Erbin
erbb2 interacting protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23685749
NCBI chr 2:34,926,962...35,028,440
Ensembl chr 2:34,928,863...35,027,852
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Espl1
extra spindle pole bodies like 1, separase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16762588
NCBI chr 7:133,424,027...133,450,984
Ensembl chr 7:133,424,130...133,450,984
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Fanca
FA complementation group A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16762588
NCBI chr19:51,304,126...51,362,586
Ensembl chr19:51,304,021...51,362,527
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Fat1
FAT atypical cadherin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16762588
NCBI chr16:47,177,253...47,296,261
Ensembl chr16:47,177,248...47,296,107
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Fbxw7
F-box and WD repeat domain containing 7
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Adenocystic carcinoma
CTD ClinVar
PMID:23685749 PMID:26619011
NCBI chr 2:170,149,706...170,311,536
Ensembl chr 2:170,149,694...170,309,941
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Fgf16
fibroblast growth factor 16
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23685749
NCBI chr X:70,816,658...70,828,028
Ensembl chr X:70,817,433...70,878,717
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Fgfr2
fibroblast growth factor receptor 2
ISO
ClinVar Annotator: match by term: Adenoid cystic carcinoma
ClinVar
PMID:26619011
NCBI chr 1:184,745,418...184,850,655
Ensembl chr 1:184,745,420...184,850,626
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Fgfr4
fibroblast growth factor receptor 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23685749
NCBI chr17:9,461,541...9,476,268
Ensembl chr17:9,461,547...9,476,242
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Foxo3
forkhead box O3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23685749
NCBI chr20:45,669,708...45,764,606
Ensembl chr20:45,672,995...45,764,561
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Foxp2
forkhead box P2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23685749
NCBI chr 4:43,133,827...43,712,442
Ensembl chr 4:43,133,912...43,711,683
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Gas2
growth arrest-specific 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16762588
NCBI chr 1:101,452,361...101,582,619
Ensembl chr 1:101,482,591...101,582,619
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Gas6
growth arrest specific 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16762588
NCBI chr16:76,045,430...76,075,904
Ensembl chr16:76,045,426...76,075,904
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Gins2
GINS complex subunit 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16762588
NCBI chr19:48,626,770...48,639,523
Ensembl chr19:48,626,770...48,639,339
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Gucy1a1
guanylate cyclase 1 soluble subunit alpha 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16762588
NCBI chr 2:167,418,615...167,482,293
Ensembl chr 2:167,418,640...167,481,671
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H1f4
H1.4 linker histone, cluster member
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23685749
NCBI chr17:41,486,574...41,487,355
Ensembl chr17:41,486,560...41,487,403
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Homer3
homer scaffold protein 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16762588
NCBI chr16:19,132,177...19,142,739
Ensembl chr16:19,132,162...19,142,680
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Hras
HRas proto-oncogene, GTPase
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 1:196,290,127...196,299,823
Ensembl chr 1:196,296,263...196,300,615
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Idh1
isocitrate dehydrogenase (NADP(+)) 1
ISO
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 9:66,534,146...66,563,703
Ensembl chr 9:66,534,146...66,563,708
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Igfbp2
insulin-like growth factor binding protein 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16762588
NCBI chr 9:74,415,574...74,442,945
Ensembl chr 9:74,415,546...74,442,937
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Il17rd
interleukin 17 receptor D
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23685749
NCBI chr16:2,228,438...2,295,122
Ensembl chr16:2,228,287...2,292,556
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Insrr
insulin receptor-related receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23685749
NCBI chr 2:173,255,335...173,274,800
Ensembl chr 2:173,255,414...173,274,800
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Irx4
iroquois homeobox 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16762588
NCBI chr 1:30,030,561...30,039,549
Ensembl chr 1:30,030,561...30,039,549
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Isyna1
inositol-3-phosphate synthase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16762588
NCBI chr16:18,839,143...18,841,979
Ensembl chr16:18,839,145...18,841,979
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Itgb4
integrin subunit beta 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16762588
NCBI chr10:101,206,657...101,243,012
Ensembl chr10:101,206,665...101,243,012
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Jag1
jagged canonical Notch ligand 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16762588
NCBI chr 3:124,406,783...124,442,220
Ensembl chr 3:124,406,794...124,442,209
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Jak3
Janus kinase 3
ISO
ClinVar Annotator: match by term: Adenocystic carcinoma
ClinVar
PMID:14615376 PMID:28492532 PMID:33040328
NCBI chr16:18,386,330...18,398,542
Ensembl chr16:18,386,405...18,398,536
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Jmjd1c
jumonji domain containing 1C
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23685749
NCBI chr20:21,332,147...21,494,220
Ensembl chr20:21,332,147...21,463,122
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Kansl1
KAT8 regulatory NSL complex subunit 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23685749
NCBI chr10:89,237,667...89,368,735
Ensembl chr10:89,237,667...89,366,951
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Kat6a
lysine acetyltransferase 6A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23685749
NCBI chr16:69,084,914...69,165,923
Ensembl chr16:69,084,914...69,163,606
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Kdm6a
lysine 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:4,337,466...4,477,100
Ensembl chr X:4,337,750...4,477,062
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Kdm6b
lysine demethylase 6B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23685749
NCBI chr10:54,120,716...54,142,212
Ensembl chr10:54,121,848...54,130,794
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Kmt2c
lysine methyltransferase 2C
disease_progression
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:23685749 PMID:31483290
RGD:150429736
NCBI chr 4:9,620,638...9,834,787
Ensembl chr 4:9,609,627...9,833,539
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Kras
KRAS proto-oncogene, GTPase
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 4:178,185,418...178,218,484
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Krt15
keratin 15
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16762588
NCBI chr10:85,066,797...85,070,614
Ensembl chr10:85,066,802...85,171,799
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Krt5
keratin 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16762588
NCBI chr 7:132,846,132...132,851,861
Ensembl chr 7:132,846,136...132,851,850
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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 1:196,299,843...196,315,170
Ensembl chr 1:196,299,846...196,315,172
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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 4:126,205,663...126,811,354
Ensembl chr 4:126,206,816...126,811,691
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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 4:14,386,389...15,870,036
Ensembl chr 4:14,386,399...15,870,240
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Maml3
mastermind-like transcriptional coactivator 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23685749
NCBI chr 2:135,720,431...136,137,829
Ensembl chr 2:135,721,021...136,137,814
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Map2k2
mitogen activated protein kinase kinase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23685749
NCBI chr 7:8,590,729...8,610,279
Ensembl chr 7:8,580,905...8,610,243
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Marcks
myristoylated alanine rich protein kinase C substrate
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16762588
NCBI chr20:40,685,315...40,691,012
Ensembl chr20:40,685,315...40,691,012
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Mark2
microtubule affinity regulating kinase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16762588
NCBI chr 1:204,461,029...204,526,247
Ensembl chr 1:204,461,030...204,525,652
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Mecom
MDS1 and EVI1 complex locus
ISO
ClinVar Annotator: match by term: Adenoid cystic carcinoma
ClinVar
NCBI chr 2:112,909,353...113,464,583
Ensembl chr 2:112,909,321...113,464,590
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Mga
MAX dimerization protein MGA
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23685749
NCBI chr 3:106,851,216...106,942,908
Ensembl chr 3:106,851,140...106,941,043
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Mier2
MIER family member 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16762588
NCBI chr 7:10,153,501...10,169,381
Ensembl chr 7:10,153,649...10,169,378
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Mlc1
modulator of VRAC current 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16762588
NCBI chr 7:120,046,705...120,067,049
Ensembl chr 7:120,046,705...120,067,049
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Morf4l1
mortality factor 4 like 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23685749
NCBI chr 8:90,642,988...90,664,518
Ensembl chr 8:90,642,988...90,664,519
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Myb
MYB proto-oncogene, transcription factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23685749 PMID:26829750
NCBI chr 1:15,939,771...15,973,367
Ensembl chr 1:15,939,761...15,973,057
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Mybl1
MYB proto-oncogene like 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23685749
NCBI chr 5:9,582,905...9,618,179
Ensembl chr 5:9,582,934...9,618,183
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Mycbp
Myc binding protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23685749
NCBI chr 5:136,135,955...136,143,163
Ensembl chr 5:136,135,931...136,145,616
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Mycn
MYCN proto-oncogene, bHLH transcription factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23685749
NCBI chr 6:35,717,764...35,723,590
Ensembl chr 6:35,717,764...35,723,590
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Neto2
neuropilin and tolloid like 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16762588
NCBI chr19:21,344,299...21,415,524
Ensembl chr19:21,344,289...21,417,023
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Nfib
nuclear factor I/B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23685749
NCBI chr 5:96,759,208...96,974,001
Ensembl chr 5:96,764,653...96,975,479
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Notch1
notch receptor 1
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Adenoid cystic carcinoma
CTD ClinVar
PMID:23685749
NCBI chr 3:9,277,955...9,323,531
Ensembl chr 3:9,278,086...9,323,531
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Nsd1
nuclear receptor binding SET domain protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23685749
NCBI chr17:9,311,963...9,426,373
Ensembl chr17:9,315,237...9,425,358
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Ntrk3
neurotrophic receptor tyrosine kinase 3
treatment
ISO
RGD
PMID:23027130
RGD:150519921
NCBI chr 1:132,116,472...132,503,849
Ensembl chr 1:132,132,849...132,503,286
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Pcsk1n
proprotein convertase subtilisin/kexin type 1 inhibitor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16762588
NCBI chr X:14,580,036...14,583,478
Ensembl chr X:14,580,038...14,583,566
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Pdzk1
PDZ domain containing 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16762588
NCBI chr 2:184,376,161...184,407,514
Ensembl chr 2:184,376,161...184,407,514
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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 2:115,175,275...115,249,034
Ensembl chr 2:115,174,984...115,249,032
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Prkdc
protein kinase, DNA-activated, catalytic subunit
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23685749
NCBI chr11:85,040,790...85,258,357
Ensembl chr11:85,040,792...85,257,952
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Pten
phosphatase and tensin homolog
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23685749
NCBI chr 1:230,630,443...230,697,070
Ensembl chr 1:230,630,338...230,696,838
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Pygb
glycogen phosphorylase B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16762588
NCBI chr 3:139,611,724...139,658,521
Ensembl chr 3:139,611,749...139,663,553
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Rbfox2
RNA binding fox-1 homolog 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16762588
NCBI chr 7:108,810,627...109,054,420
Ensembl chr 7:108,810,628...109,054,691
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Serpinf1
serpin family F member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16762588
NCBI chr10:60,250,198...60,262,593
Ensembl chr10:60,249,708...60,262,646
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Setd2
SET domain containing 2, histone lysine methyltransferase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23685749
NCBI chr 8:110,511,808...110,597,475
Ensembl chr 8:110,511,772...110,597,489
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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 9:56,492,403...56,532,300
Ensembl chr 9:56,492,403...56,532,300
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Slc24a3
solute carrier family 24 member 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16762588
NCBI chr 3:132,552,119...133,051,192
Ensembl chr 3:132,551,595...133,051,192
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Slc3a2
solute carrier family 3 member 2
disease_progression
ISO
RGD
PMID:23516127
RGD:151361211
NCBI chr 1:205,604,468...205,618,931
Ensembl chr 1:205,604,468...205,618,931
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Slc7a5
solute carrier family 7 member 5
disease_progression
ISO
RGD
PMID:23516127
RGD:151361211
NCBI chr19:49,935,220...49,963,823
Ensembl chr19:49,935,220...49,963,823
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Smarca2
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Adenoid cystic carcinoma
CTD ClinVar
PMID:23685749
NCBI chr 1:224,191,125...224,358,640
Ensembl chr 1:224,191,125...224,358,684
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Smarcb1
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1
ISO
ClinVar Annotator: match by term: Adenoid cystic carcinoma
ClinVar
NCBI chr20:12,741,164...12,763,616
Ensembl chr20:12,741,477...12,763,620
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Smarce1
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23685749
NCBI chr10:84,159,270...84,180,547
Ensembl chr10:84,159,275...84,179,989
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Smc1a
structural maintenance of chromosomes 1A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23685749
NCBI chr X:21,103,323...21,148,053
Ensembl chr X:21,103,282...21,148,056
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Son
SON DNA and RNA binding protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16762588
NCBI chr11:30,850,890...30,923,167
Ensembl chr11:30,892,005...30,923,167
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Sox11
SRY-box transcription factor 11
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16762588
NCBI chr 6:44,008,333...44,010,354
Ensembl chr 6:44,008,340...44,010,354
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Sox4
SRY-box transcription factor 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16762588
NCBI chr17:35,667,809...35,672,515
Ensembl chr17:35,667,537...35,673,665
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Srcap
Snf2-related CREBBP activator protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23685749
NCBI chr 1:182,123,562...182,172,643
Ensembl chr 1:182,118,416...182,176,610
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St3gal4
ST3 beta-galactoside alpha-2,3-sialyltransferase 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16762588
NCBI chr 8:33,415,666...33,465,319
Ensembl chr 8:33,415,671...33,524,389
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Stat3
signal transducer and activator of transcription 3
ISO
ClinVar Annotator: match by term: Adenoid cystic carcinoma
ClinVar
NCBI chr10:85,811,206...85,863,057
Ensembl chr10:85,811,218...85,863,057
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Tlk1
tousled-like kinase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23685749
NCBI chr 3:55,520,559...55,627,580
Ensembl chr 3:55,503,358...55,691,968
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Top2a
DNA topoisomerase II alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16762588
NCBI chr10:83,945,731...83,976,874
Ensembl chr10:83,945,735...83,976,874
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Tp53
tumor protein p53
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 chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
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Uhrf1
ubiquitin-like with PHD and ring finger domains 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23685749
NCBI chr 9:1,133,117...1,154,639
Ensembl chr 9:1,134,909...1,154,631
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Vcan
versican
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16762588
NCBI chr 2:20,761,718...20,860,637
Ensembl chr 2:20,761,718...20,860,637
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Wnt5b
Wnt family member 5B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16762588
NCBI chr 4:152,609,566...152,733,790
Ensembl chr 4:152,609,569...152,733,407
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Xrn2
5'-3' exoribonuclease 2
ISO
DNA:hypermethylation:3' utr: (human)
RGD
PMID:21692051
RGD:11041796
NCBI chr 3:134,436,916...134,509,308
Ensembl chr 3:134,437,109...134,509,306
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Hnf1a
HNF1 homeobox A
ISO
RGD
PMID:10489374
RGD:150540314
NCBI chr12:41,638,536...41,672,806
Ensembl chr12:41,645,587...41,672,104
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Mir155
microRNA 155
disease_progression
ISO
RGD
PMID:28668836
RGD:24922215
NCBI chr11:23,774,654...23,774,718
Ensembl chr11:23,774,654...23,774,718
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Mtus1
microtubule associated scaffold protein 1
disease_progression
ISO
RGD
PMID:25885343
RGD:25330345
NCBI chr16:51,202,497...51,347,794
Ensembl chr16:51,253,562...51,347,793
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Xrcc4
X-ray repair cross complementing 4
susceptibility
ISO
DNA:SNP:intron: (rs13180356) (human)
RGD
PMID:26035306
RGD:151361290
NCBI chr 2:20,948,464...21,197,705
Ensembl chr 2:20,951,200...21,197,808
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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 chr14:76,987,242...77,002,671
Ensembl chr14:76,987,993...77,003,341
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