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: Salivary Gland Neoplasms
Accession: DOID:9003216
browse the term
Definition: Tumors or cancer of the SALIVARY GLANDS.
Synonyms: exact_synonym: Salivary Gland Neoplasm
narrow_synonym: Benign Salivary Gland Myoepithelioma
primary_id: MESH:D012468
xref: EFO:0003826 ; EFO:1000119
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Anxa7
annexin A7
ISO
protein:decreased expression:salivary gland
RGD
PMID:17708571
RGD:2292654
NCBI chr15:3,869,180...3,897,827
Ensembl chr15:3,821,845...3,849,385
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Aqp1
aquaporin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16762588
NCBI chr 4:85,812,784...85,824,964
Ensembl chr 4:84,482,512...84,494,690
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Aspm
assembly factor for spindle microtubules
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16762588
NCBI chr13:53,625,584...53,674,489
Ensembl chr13:51,074,849...51,123,755
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Bcl11a
BCL11 transcription factor A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16762588
NCBI chr14:102,230,147...102,325,289
Ensembl chr14:98,030,461...98,124,180
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Ccnd1
cyclin D1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16762588
NCBI chr 1:209,518,288...209,527,986
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 chr19:51,402,178...51,471,572
Ensembl chr19:34,492,371...34,561,775
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Cdkn1a
cyclin-dependent kinase inhibitor 1A
onset
ISO
RGD
PMID:11103935
RGD:8662404
NCBI chr20:7,150,820...7,161,373
Ensembl chr20:7,149,217...7,159,585
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Chaf1b
chromatin assembly factor 1 subunit B
disease_progression
ISO
protein:increased expression:salivary gland:
RGD
PMID:21109952
RGD:9587467
NCBI chr11:46,670,560...46,690,739
Ensembl chr11:33,200,981...33,221,070
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Dapk1
death associated protein kinase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16762588
NCBI chr17:3,935,826...4,096,858
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 chr13:105,646,908...105,685,921
Ensembl chr13:103,117,186...103,154,890
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Efhd1
EF-hand domain family, member D1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16762588
NCBI chr 9:95,386,155...95,432,800
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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Espl1
extra spindle pole bodies like 1, separase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16762588
NCBI chr 7:135,302,460...135,329,570
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 chr16:53,909,759...54,029,175
Ensembl chr16:47,177,248...47,296,107
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Fgf8
fibroblast growth factor 8
ISO
associated with Mammary Neoplasms, Experimental
RGD
PMID:9840935
RGD:2301098
NCBI chr 1:254,533,504...254,539,605
Ensembl chr 1:244,584,652...244,590,359
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Gas2
growth arrest-specific 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16762588
NCBI chr 1:110,587,952...110,721,572
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 chr16:82,747,676...82,778,090
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 2:169,716,684...169,780,360
Ensembl chr 2:167,418,640...167,481,671
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Homer3
homer scaffold protein 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16762588
NCBI chr16:19,166,141...19,176,701
Ensembl chr16:19,132,162...19,142,680
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Hras
HRas proto-oncogene, GTPase
ISO
ClinVar Annotator: match by term: Salivary gland neoplasm
ClinVar
PMID:24006476 PMID:25695684 PMID:25741868
NCBI chr 1:205,712,625...205,729,406
Ensembl chr 1:196,296,263...196,300,615
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Igfbp2
insulin-like growth factor binding protein 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16762588
NCBI chr 9:81,864,811...81,892,179
Ensembl chr 9:74,415,546...74,442,937
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Irx4
iroquois homeobox 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16762588
NCBI chr 1:31,859,101...31,868,089
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 chr16:18,873,119...18,876,116
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 chr10:101,705,592...101,741,933
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 3:144,859,453...144,894,883
Ensembl chr 3:124,406,794...124,442,209
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Krt15
keratin 15
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16762588
NCBI chr10:85,567,197...85,571,014
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 7:134,724,840...134,730,569
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: Salivary gland neoplasm
ClinVar
PMID:24006476 PMID:25695684 PMID:25741868
NCBI chr 1:205,729,402...205,744,754
Ensembl chr 1:196,299,846...196,315,172
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Marcks
myristoylated alanine rich protein kinase C substrate
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16762588
NCBI chr20:42,240,185...42,245,882
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 1:213,890,213...213,955,417
Ensembl chr 1:204,461,030...204,525,652
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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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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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Pcsk1n
proprotein convertase subtilisin/kexin type 1 inhibitor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16762588
NCBI chr X:17,251,963...17,255,405
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 2:187,064,995...187,096,348
Ensembl chr 2:184,376,161...184,407,514
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Prkd1
protein kinase D1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25240283
NCBI chr 6:73,460,640...73,774,433
Ensembl chr 6:67,725,905...68,039,042
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Pygb
glycogen phosphorylase B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16762588
NCBI chr 3:160,072,141...160,118,930
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 7:110,691,230...110,934,901
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 chr10:60,748,504...60,760,898
Ensembl chr10:60,249,708...60,262,646
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Slc24a3
solute carrier family 24 member 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16762588
NCBI chr 3:153,005,418...153,504,497
Ensembl chr 3:132,551,595...133,051,192
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Son
SON DNA and RNA binding protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16762588
NCBI chr11:44,336,818...44,409,127
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 6:49,736,773...49,738,794
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 chr17:35,876,298...35,881,004
Ensembl chr17:35,667,537...35,673,665
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St3gal4
ST3 beta-galactoside alpha-2,3-sialyltransferase 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16762588
NCBI chr 8:41,673,510...41,723,158
Ensembl chr 8:33,415,671...33,524,389
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Top2a
DNA topoisomerase II alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16762588
NCBI chr10:84,441,954...84,473,093
Ensembl chr10:83,945,735...83,976,874
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Vcan
versican
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16762588
NCBI chr 2:22,497,035...22,595,955
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 4:154,281,852...154,406,081
Ensembl chr 4:152,609,569...152,733,407
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Xrcc1
X-ray repair cross complementing 1
severity
ISO
protein:decreased expression:saliva-secreting gland (human)
RGD
PMID:33202356
RGD:150530645
NCBI chr 1:89,268,721...89,296,619
Ensembl chr 1:80,141,207...80,168,701
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Plag1
PLAG1 zinc finger
ISO
CTD Direct Evidence: marker/mechanism
CTD OMIM RGD
PMID:10029085
RGD:1599086
NCBI chr 5:16,902,057...16,956,727
Ensembl chr 5:16,905,394...16,913,647
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Mir155
microRNA 155
disease_progression
ISO
RGD
PMID:28668836
RGD:24922215
NCBI chr11:37,261,114...37,261,178
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 chr16:57,905,991...58,051,466
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 2:22,686,506...22,932,929
Ensembl chr 2:20,951,200...21,197,808
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Gon4l
gon-4 like
ISS
MouseDO
NCBI chr 2:176,531,274...176,604,446
Ensembl chr 2:174,233,461...174,306,634
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Kdr
kinase insert domain receptor
disease_progression
ISO
RGD
PMID:26498950
RGD:126907998
NCBI chr14:32,572,031...32,615,204
Ensembl chr14:32,217,871...32,261,018
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Ptgs1
prostaglandin-endoperoxide synthase 1
disease_progression
ISO
RGD
PMID:26498950
RGD:126907998
NCBI chr 3:39,981,419...40,002,993
Ensembl chr 3:19,584,015...19,605,586
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Rad52
RAD52 homolog, DNA repair protein
sexual_dimorphism
ISO
DNA:SNP:intron: (rs3748522) (human)
RGD
PMID:26035306
RGD:151361290
NCBI chr 4:154,778,320...154,802,002
Ensembl chr 4:153,106,062...153,128,207
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Xrcc4
X-ray repair cross complementing 4
sexual_dimorphism
ISO
DNA:SNP:intron: (rs13180356) (human)
RGD
PMID:26035306
RGD:151361290
NCBI chr 2:22,686,506...22,932,929
Ensembl chr 2:20,951,200...21,197,808
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