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: Cystic, Mucinous, and Serous Neoplasms
Accession: DOID:9008105
browse the term
Definition: Neoplasms containing cyst-like formations or producing mucin or serum.
Synonyms: narrow_synonym: Papillary Cystic Neoplasm
primary_id: MESH:D018297
xref: EFO:1000448 ; EFO:1000889
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Met
MET proto-oncogene, receptor tyrosine kinase
ISO
protein:increased expression:pancreas, liver, epithelium (human)
RGD
PMID:18208800
RGD:2317574
NCBI chr 4:45,790,456...45,898,139
Ensembl chr 4:45,790,791...45,897,876
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Spp1
secreted phosphoprotein 1
ISO
RGD
PMID:16633066
RGD:1581360
NCBI chr14:5,308,885...5,315,120
Ensembl chr14:5,308,885...5,315,162
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Stk11
serine/threonine kinase 11
disease_progression
ISO
DNA:mutations
RGD
PMID:12533684
RGD:2291947
NCBI chr 7:9,574,553...9,591,315
Ensembl chr 7:9,575,269...9,591,315
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Runx1
RUNX family transcription factor 1
ISO
mRNA:increased expression:colon
RGD
PMID:29747153
RGD:126779566
NCBI chr11:31,839,880...32,074,427
Ensembl chr11:31,843,764...32,074,542
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Aldoa
aldolase, fructose-bisphosphate A
ISO
protein:increased expression:pancreas
RGD
PMID:19077459
RGD:2325696
NCBI chr 1:181,402,275...181,407,476
Ensembl chr 1:181,402,275...181,406,182
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Aldoart2
aldolase 1 A retrogene 2
ISO
protein:increased expression:pancreas
RGD
PMID:19077459
RGD:2325696
NCBI chr 6:72,939,821...72,941,511
Ensembl chr 6:72,939,788...72,941,709
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Atm
ATM serine/threonine kinase
ISO
ClinVar Annotator: match by term: Uterine corpus serous adenocarcinoma
ClinVar
NCBI chr 8:53,828,741...53,932,773
Ensembl chr 8:53,831,093...53,932,437
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Brca2
BRCA2, DNA repair associated
susceptibility
ISO
DNA:deletion: :6174delT
RGD
PMID:16650962
RGD:2289045
NCBI chr12:59,492...103,789
Ensembl chr12:59,819...100,567
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Msh6
mutS homolog 6
ISO
ClinVar Annotator: match by term: Papillary carcinoma of the corpus uteri
ClinVar
PMID:18269114 PMID:21642682 PMID:24362816 PMID:25741868 PMID:28492532 PMID:29922827 More...
NCBI chr 6:6,562,631...6,579,995
Ensembl chr 6:6,562,632...6,579,956
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Cd44
CD44 molecule
ISO
protein:increased expression:ovary
RGD
PMID:16124061
RGD:2289359
NCBI chr 3:89,155,850...89,244,615
Ensembl chr 3:89,157,058...89,244,620
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Hoxd9
homeo box D9
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26075790
NCBI chr 3:59,600,575...59,602,755
Ensembl chr 3:59,600,575...59,602,754
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Muc1
mucin 1, cell surface associated
ISO
associated with Pancreatic Diseases
RGD
PMID:20357691
RGD:2317980
NCBI chr 2:174,635,989...174,640,738
Ensembl chr 2:174,635,995...174,640,733
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Muc2
mucin 2, oligomeric mucus/gel-forming
ISO
associated with cholangiocarcinoma;mRNA,protein:increased expression:bile duct associated with pancreatic neoplasms;protein:increased expression:pancreas associated with pancreatic diseases;protein:increased expression:pancreas associated Pancreatic Neoplasms;protein:increased expression:pancreas
RGD
PMID:15048136 PMID:17708554 PMID:19954814 PMID:12717243
RGD:2324868 , RGD:2324887 , RGD:2324889 , RGD:2317985
NCBI chr 1:196,799,494...196,831,740
Ensembl chr 1:196,799,517...196,831,756
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Muc4
mucin 4, cell surface associated
severity
ISO
associated with pancreatic disease;protein:increased expression:pancreas
RGD
PMID:17079945
RGD:2324927
NCBI chr11:68,008,245...68,053,242
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Muc5ac
mucin 5AC, oligomeric mucus/gel-forming
disease_progression
ISO
associated with pancreatic neoplasms; mRNA:increased expression:pancreas associated with pancreatic neoplasms;protein:increased expression:pancreas associated with pancreatic diseases;protein:decreased expression:pancreas
RGD
PMID:10227724 PMID:17708554 PMID:19954814
RGD:2324907 , RGD:2324887 , RGD:2324889
NCBI chr 1:196,864,336...196,896,475
Ensembl chr 1:196,864,336...196,896,475
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Muc6
mucin 6, oligomeric mucus/gel-forming
ISO
associated with bile duct neoplasms; protein:increased expression:bile duct
RGD
PMID:15998373
RGD:2325166
NCBI chr 1:196,726,678...196,764,842
Ensembl chr 1:196,726,807...196,764,842
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Zfhx3
zinc finger homeobox 3
ISO
protein:increased expression:colon, nucleus, cytoplasm (human)
RGD
PMID:28713972
RGD:151361166
NCBI chr19:36,257,196...36,886,104
Ensembl chr19:36,630,254...36,881,771
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Lhcgr
luteinizing hormone/choriogonadotropin receptor
ISO
RGD
PMID:11994539
RGD:2289157
NCBI chr 6:5,661,871...5,728,109
Ensembl chr 6:5,661,871...5,724,521
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Sgk1
serum/glucocorticoid regulated kinase 1
ISO
RGD
PMID:11994539
RGD:2289157
NCBI chr 1:22,980,257...23,098,122
Ensembl chr 1:22,980,261...23,098,283
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Daxx
death-domain associated protein
ISO
protein:increased expression:ovary:
RGD
PMID:23539629
RGD:9587820
NCBI chr20:4,970,090...4,976,145
Ensembl chr20:4,970,092...4,975,843
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Bap1
BRCA1 associated deubiquitinase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25231345
NCBI chr16:6,446,709...6,455,535
Ensembl chr16:6,446,709...6,455,535
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Cdh1
cadherin 1
ISO
DNA:hypermethylation:promoter:
RGD
PMID:15999364
RGD:9588574
NCBI chr19:34,492,371...34,561,775
Ensembl chr19:34,492,371...34,561,775
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Cxcr4
C-X-C motif chemokine receptor 4
disease_progression
ISO
protein:increased expression:saliva-secreting gland (human)
RGD
PMID:28772134
RGD:152023620
NCBI chr13:40,077,976...40,081,883
Ensembl chr13:40,077,976...40,081,883
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Dnmt1
DNA methyltransferase 1
disease_progression
ISO
RGD
PMID:15999364
RGD:9588574
NCBI chr 8:19,440,611...19,486,659
Ensembl chr 8:19,440,611...19,486,659
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Rad52
RAD52 homolog, DNA repair protein
susceptibility
ISO
DNA:SNP:intron: (rs3748522) (human)
RGD
PMID:26035306
RGD:151361290
NCBI chr 4:153,106,062...153,128,598
Ensembl chr 4:153,106,062...153,128,207
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Birc3
baculoviral IAP repeat-containing 3
exacerbates
ISO
mRNA:increased expression:ovary (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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Arid1a
AT-rich interaction domain 1A
ISO
ClinVar Annotator: match by term: Primary low grade serous adenocarcinoma of ovary
ClinVar
NCBI chr 5:145,908,173...145,981,552
Ensembl chr 5:145,908,181...145,985,564
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Brca1
BRCA1, DNA repair associated
ISO
ClinVar Annotator: match by term: Ovarian serous surface papillary adenocarcinoma
ClinVar
PMID:16084575 PMID:16455195 PMID:16949048 PMID:17100994 PMID:19656164 PMID:20033483 PMID:20104584 PMID:20950396 PMID:22160602 PMID:22217648 PMID:22382806 PMID:22762150 PMID:22798144 PMID:23633455 PMID:23961350 PMID:24728189 PMID:24916970 PMID:25741868 PMID:25863477 PMID:26402875 PMID:26467025 PMID:27167707 PMID:27836010 PMID:28111427 PMID:28492532 PMID:29348823 PMID:29446198 PMID:29907814 PMID:30078507 PMID:30257646 PMID:30702160 PMID:32019277 More...
NCBI chr10:86,417,441...86,477,762
Ensembl chr10:86,418,000...86,477,304
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Brca2
BRCA2, DNA repair associated
ISO
ClinVar Annotator: match by term: Ovarian serous surface papillary adenocarcinoma
ClinVar
PMID:16793542 PMID:18704680 PMID:25741868
NCBI chr12:59,492...103,789
Ensembl chr12:59,819...100,567
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Bsg
basigin
ISO
protein:increased expression:ovary
RGD
PMID:16633062
RGD:2289053
NCBI chr 7:9,993,170...10,000,387
Ensembl chr 7:9,993,170...10,000,387
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Kras
KRAS proto-oncogene, GTPase
ISO
ClinVar Annotator: match by term: Primary low grade serous adenocarcinoma of ovary
ClinVar
PMID:7773929 PMID:8439212 PMID:12720172 PMID:15093544 PMID:15696205 PMID:15842656 PMID:16474405 PMID:17332249 PMID:17704260 PMID:17910045 PMID:19047918 PMID:19358724 PMID:20805368 PMID:20949522 PMID:21079152 PMID:22499344 PMID:22683711 PMID:23096712 PMID:23255105 PMID:25695684 PMID:25741868 PMID:26242988 PMID:26521233 PMID:28492532 PMID:29298116 PMID:30443000 PMID:30544177 PMID:30902772 PMID:31891627 PMID:34114335 PMID:35794233 More...
NCBI chr 4:178,185,418...178,218,484
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Tp53
tumor protein p53
ISO
DNA, protein:loss of heterozygosity, increased expression:ovary
RGD
PMID:1310251
RGD:2290540
NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
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Cdkn1a
cyclin-dependent kinase inhibitor 1A
disease_progression
ISO
RGD
PMID:16012716
RGD:8662305
NCBI chr20:7,149,177...7,159,727
Ensembl chr20:7,149,217...7,159,585
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Lhcgr
luteinizing hormone/choriogonadotropin receptor
ISO
RGD
PMID:11994539
RGD:2289157
NCBI chr 6:5,661,871...5,728,109
Ensembl chr 6:5,661,871...5,724,521
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Sgk1
serum/glucocorticoid regulated kinase 1
ISO
RGD
PMID:11994539
RGD:2289157
NCBI chr 1:22,980,257...23,098,122
Ensembl chr 1:22,980,261...23,098,283
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Tp53
tumor protein p53
disease_progression
ISO
RGD
PMID:16012716
RGD:8662305
NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
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Xpc
XPC complex subunit, DNA damage recognition and repair factor
disease_progression
ISO
DNA:SNPs: :rs1124303, rs3731108 (human)
RGD
PMID:21751198
RGD:10401086
NCBI chr 4:123,993,670...124,020,922
Ensembl chr 4:123,993,666...124,021,010
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Daxx
death-domain associated protein
ISO
protein:increased expression:ovary:
RGD
PMID:23539629
RGD:9587820
NCBI chr20:4,970,090...4,976,145
Ensembl chr20:4,970,092...4,975,843
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Tff1
trefoil factor 1
ISO
protein:increased expression:urinary bladder
RGD
PMID:18283638
RGD:2291996
NCBI chr20:9,235,736...9,239,597
Ensembl chr20:9,235,736...9,239,597
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