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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:Islet Cell Adenoma
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Accession:DOID:9000283 term browser browse the term
Definition:A benign tumor of the pancreatic ISLET CELLS. Usually it involves the INSULIN-producing PANCREATIC BETA CELLS, as in INSULINOMA, resulting in HYPERINSULINISM.
Synonyms:exact_synonym: islet cell adenomas;   nesidioblastoma
 primary_id: MESH:D007516
 xref: NCI:C34051


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insulinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adm adrenomedullin ISO protein:increased expression:pancreas, plasma RGD PMID:11331218 RGD:2325319 NCBI chr 1:174,164,178...174,182,372 JBrowse link
G Btc betacellulin ISO protein:increased expression:pancreas RGD PMID:10724350 RGD:2326087 NCBI chr14:16,708,447...16,746,961 JBrowse link
G Cd40 CD40 molecule ISO RGD PMID:17982058 RGD:5491180 NCBI chr 3:174,209,113...174,224,592 JBrowse link
G Cux1 cut-like homeobox 1 disease_progression
exacerbates		 ISO mRNA:increased expression:pancreas (mouse)
protein:increased expression:pancreas (human)		 RGD PMID:25248790 PMID:25248790 RGD:152985543, RGD:152985543 NCBI chr12:20,107,062...20,425,868 JBrowse link
G Cxcl12 C-X-C motif chemokine ligand 12 ISO protein:increased expression:pancreas RGD PMID:19013212 RGD:2317608 NCBI chr 4:152,060,781...152,073,628 JBrowse link
G Ins2 insulin 2 ISO protein:altered expression:blood
protein:altered localization:pancreas		 RGD PMID:8175958 PMID:2565624 RGD:2317266, RGD:2317268 NCBI chr 1:207,272,738...207,421,998 JBrowse link
G Men1 menin 1 disease_progression ISO DNA:deletion:exon
DNA:deletions:exons
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:17961653 PMID:12941803 PMID:19208834 PMID:20138042 RGD:2317292, RGD:2317310, RGD:2317288 NCBI chr 1:203,638,905...203,644,871 JBrowse link
G Ncam1 neural cell adhesion molecule 1 ISO protein:increased expression:pancreas RGD PMID:8972754 RGD:2326080 NCBI chr 8:58,762,088...59,062,131 JBrowse link
G Rps15 ribosomal protein S15 IEP RGD PMID:3019805 RGD:61740 NCBI chr 7:9,416,003...9,417,442 JBrowse link
G Slc2a2 solute carrier family 2 member 2 ISO protein:increased expression:pancreatic B cell
mRNA:decreased expression:pancreatic islet		 RGD PMID:12114701 PMID:8421107 RGD:2324976, RGD:2324977 NCBI chr 2:113,537,884...113,568,422 JBrowse link
G Tgfa transforming growth factor alpha ISO protein:increased expression:pancreas RGD PMID:8712689 RGD:2317472 NCBI chr 4:120,175,549...120,258,342 JBrowse link
G Tgfb1 transforming growth factor, beta 1 ISO mRNA, protein:decreased expression:pancreatic islet RGD PMID:18058603 RGD:2325017 NCBI chr 1:90,324,312...90,340,627 JBrowse link
Islet Cell Adenomatosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mafa MAF bZIP transcription factor A ISO ClinVar Annotator: match by term: Islet cell adenomatosis OMIM
ClinVar		 PMID:25741868 PMID:29339498 PMID:35406570 NCBI chr 7:109,313,021...109,315,813 JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19139
    disease of cellular proliferation 7890
      Neoplasms by Histologic Type 5346
        cell type benign neoplasm 1960
          adenoma 718
            Islet Cell Adenoma 13
              Islet Cell Adenomatosis 1
              insulinoma 12
Path 2
Term Annotations click to browse term
  disease 19139
    disease of anatomical entity 18450
      gastrointestinal system disease 7189
        pancreas disease 1255
          Pancreatic Neoplasms 424
            Pancreatic Benign Neoplasm 14
              Islet Cell Adenoma 13
                Islet Cell Adenomatosis 1
                insulinoma 12
paths to the root