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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
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Accession:DOID:9008105 term browser 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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Cystic, Mucinous, and Serous Neoplasms term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Met MET proto-oncogene, receptor tyrosine kinase ISO protein:increased expression:pancreas, liver, epithelium (human) RGD PMID:18208800 RGD:2317574 NCBI chr 4:46,756,823...46,864,041
Ensembl chr 4:46,756,506...46,870,821 		JBrowse link
G Spp1 secreted phosphoprotein 1 ISO RGD PMID:16633066 RGD:1581360 NCBI chr14:5,613,569...5,620,695
Ensembl chr14:5,613,576...5,619,820 		JBrowse link
cervical mucinous adenocarcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Stk11 serine/threonine kinase 11 disease_progression ISO DNA:mutations RGD PMID:12533684 RGD:2291947 NCBI chr 7:10,225,204...10,241,965
Ensembl chr 7:10,225,204...10,241,965 		JBrowse link
colon signet ring adenocarcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Runx1 RUNX family transcription factor 1 ISO mRNA:increased expression:colon RGD PMID:29747153 RGD:126779566 NCBI chr11:45,325,778...45,560,300
Ensembl chr11:45,329,044...45,564,925 		JBrowse link
cystadenoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aldoa aldolase, fructose-bisphosphate A ISO protein:increased expression:pancreas RGD PMID:19077459 RGD:2325696 NCBI chr 1:190,832,820...190,838,021
Ensembl chr 1:190,832,820...190,838,211 		JBrowse link
G Aldoart2 aldolase 1 A retrogene 2 ISO protein:increased expression:pancreas RGD PMID:19077459 RGD:2325696 NCBI chr 6:78,674,945...78,676,635
Ensembl chr 6:78,673,353...78,680,406 		JBrowse link
endometrial serous adenocarcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atm ATM serine/threonine kinase ISO ClinVar Annotator: match by term: Uterine corpus serous adenocarcinoma ClinVar NCBI chr 8:62,724,939...62,829,040
Ensembl chr 8:62,727,291...62,828,629 		JBrowse link
G Brca2 BRCA2, DNA repair associated susceptibility ISO DNA:deletion: :6174delT RGD PMID:16650962 RGD:2289045 NCBI chr12:4,895,092...4,939,340
Ensembl chr12:4,895,447...4,936,194 		JBrowse link
G 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 More... NCBI chr 6:12,316,190...12,333,505
Ensembl chr 6:12,316,198...12,333,844 		JBrowse link
Krukenberg carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cd44 CD44 molecule ISO protein:increased expression:ovary RGD PMID:16124061 RGD:2289359 NCBI chr 3:109,610,824...109,699,776
Ensembl chr 3:109,612,054...109,699,424 		JBrowse link
mucinous adenocarcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hoxd9 homeo box D9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26075790 NCBI chr 3:80,008,006...80,010,186
Ensembl chr 3:80,007,668...80,010,171 		JBrowse link
G Muc1 mucin 1, cell surface associated ISO associated with Pancreatic Diseases RGD PMID:20357691 RGD:2317980 NCBI chr 2:176,933,312...176,938,497
Ensembl chr 2:176,933,047...176,938,491 		JBrowse link
G 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 1:206,225,775...206,261,280
Ensembl chr 1:206,229,035...206,261,280 		JBrowse link
G Muc4 mucin 4, cell surface associated severity ISO associated with pancreatic disease;protein:increased expression:pancreas RGD PMID:17079945 RGD:2324927 NCBI chr11:81,513,321...81,575,200 JBrowse link
G 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 1:206,293,717...206,326,006
Ensembl chr 1:206,293,869...206,326,006 		JBrowse link
G 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 1:206,155,826...206,194,384
Ensembl chr 1:206,155,593...206,191,864 		JBrowse link
G Zfhx3 zinc finger homeobox 3 ISO protein:increased expression:colon, nucleus, cytoplasm (human) RGD PMID:28713972 RGD:151361166 NCBI chr19:52,789,146...53,795,664
Ensembl chr19:53,551,488...53,795,664 		JBrowse link
mucinous cystadenocarcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lhcgr luteinizing hormone/choriogonadotropin receptor ISO RGD PMID:11994539 RGD:2289157 NCBI chr 6:11,415,361...11,480,834
Ensembl chr 6:11,415,415...11,478,061 		JBrowse link
G Sgk1 serum/glucocorticoid regulated kinase 1 ISO RGD PMID:11994539 RGD:2289157 NCBI chr 1:24,799,391...24,916,886
Ensembl chr 1:24,799,396...24,807,231 		JBrowse link
Mucinous Cystadenoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Daxx death-domain associated protein ISO protein:increased expression:ovary: RGD PMID:23539629 RGD:9587820 NCBI chr20:4,971,973...4,978,062
Ensembl chr20:4,971,941...4,977,720 		JBrowse link
mucoepidermoid carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bap1 BRCA1 associated deubiquitinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25231345 NCBI chr16:6,453,126...6,461,952
Ensembl chr16:6,452,974...6,461,952 		JBrowse link
G Cdh1 cadherin 1 ISO DNA:hypermethylation:promoter: RGD PMID:15999364 RGD:9588574 NCBI chr19:51,402,178...51,471,572
Ensembl chr19:51,402,034...51,471,565 		JBrowse link
G Cxcr4 C-X-C motif chemokine receptor 4 disease_progression ISO protein:increased expression:saliva-secreting gland (human) RGD PMID:28772134 RGD:152023620 NCBI chr13:42,630,383...42,634,288
Ensembl chr13:42,630,104...42,634,459 		JBrowse link
G Dnmt1 DNA methyltransferase 1 disease_progression ISO RGD PMID:15999364 RGD:9588574 NCBI chr 8:27,716,797...27,763,405
Ensembl chr 8:27,716,797...27,763,119 		JBrowse link
G Rad52 RAD52 homolog, DNA repair protein susceptibility ISO DNA:SNP:intron: (rs3748522) (human) RGD PMID:26035306 RGD:151361290 NCBI chr 4:154,778,320...154,802,002
Ensembl chr 4:154,778,320...154,800,021 		JBrowse link
ovarian serous cystadenocarcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Birc3 baculoviral IAP repeat-containing 3 exacerbates ISO mRNA:increased expression:ovary (human) RGD PMID:31964418 RGD:153344516 NCBI chr 8:13,285,702...13,313,329
Ensembl chr 8:13,285,703...13,298,590 		JBrowse link
ovary serous adenocarcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arid1a AT-rich interaction domain 1A ISO ClinVar Annotator: match by term: Primary low grade serous adenocarcinoma of ovary ClinVar NCBI chr 5:151,192,014...151,269,291
Ensembl chr 5:151,192,014...151,265,386 		JBrowse link
G 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 More... NCBI chr10:86,917,693...86,978,012
Ensembl chr10:86,917,693...86,977,763 		JBrowse link
G Brca2 BRCA2, DNA repair associated ISO ClinVar Annotator: match by term: Ovarian serous surface papillary adenocarcinoma ClinVar PMID:16793542 PMID:18704680 PMID:25741868 NCBI chr12:4,895,092...4,939,340
Ensembl chr12:4,895,447...4,936,194 		JBrowse link
G Bsg basigin ISO protein:increased expression:ovary RGD PMID:16633062 RGD:2289053 NCBI chr 7:10,643,788...10,651,005
Ensembl chr 7:10,643,789...10,651,005 		JBrowse link
G Kras KRAS proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Primary low grade serous adenocarcinoma of ovary ClinVar PMID:1875403 PMID:7773929 PMID:8439212 PMID:12720172 PMID:15093544 More... NCBI chr 4:179,916,255...179,949,613
Ensembl chr 4:179,919,802...179,949,320 		JBrowse link
G Tp53 tumor protein p53 ISO DNA, protein:loss of heterozygosity, increased expression:ovary RGD PMID:1310251 RGD:2290540 NCBI chr10:54,798,871...54,810,300
Ensembl chr10:54,798,851...54,810,299 		JBrowse link
serous cystadenocarcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdkn1a cyclin-dependent kinase inhibitor 1A disease_progression ISO RGD PMID:16012716 RGD:8662305 NCBI chr20:7,150,820...7,161,373
Ensembl chr20:7,153,958...7,164,969 		JBrowse link
G Lhcgr luteinizing hormone/choriogonadotropin receptor ISO RGD PMID:11994539 RGD:2289157 NCBI chr 6:11,415,361...11,480,834
Ensembl chr 6:11,415,415...11,478,061 		JBrowse link
G Sgk1 serum/glucocorticoid regulated kinase 1 ISO RGD PMID:11994539 RGD:2289157 NCBI chr 1:24,799,391...24,916,886
Ensembl chr 1:24,799,396...24,807,231 		JBrowse link
G Tp53 tumor protein p53 disease_progression ISO RGD PMID:16012716 RGD:8662305 NCBI chr10:54,798,871...54,810,300
Ensembl chr10:54,798,851...54,810,299 		JBrowse link
G 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 4:125,550,833...125,578,084
Ensembl chr 4:125,550,833...125,578,305 		JBrowse link
Serous Cystadenoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Daxx death-domain associated protein ISO protein:increased expression:ovary: RGD PMID:23539629 RGD:9587820 NCBI chr20:4,971,973...4,978,062
Ensembl chr20:4,971,941...4,977,720 		JBrowse link
signet ring cell adenocarcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tff1 trefoil factor 1 ISO protein:increased expression:urinary bladder RGD PMID:18283638 RGD:2291996 NCBI chr20:9,237,095...9,240,956
Ensembl chr20:9,237,095...9,240,956 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14566
    disease of cellular proliferation 5586
      Neoplasms by Histologic Type 3551
        Glandular and Epithelial Neoplasms 2648
          Cystic, Mucinous, and Serous Neoplasms 34
            Benign Ovarian Mucinous Tumor + 0
            Mucoepidermoid Tumor + 5
            Progressive Mucinous Histiocytosis 0
            cystadenocarcinoma + 13
            cystadenofibroma + 0
            cystadenoma + 4
            mucinous adenocarcinoma + 8
            pseudomyxoma peritonei 0
            signet ring cell adenocarcinoma + 3
paths to the root