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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 tumor
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Accession:DOID:1799 term browser browse the term
Definition:A pancreatic cancer that is located_in the pancreatic islet cells. (DO)
Synonyms:exact_synonym: Metastatic islet cell carcinoma;   PanNET;   endocrine pancreas cancer;   islet cell neoplasm;   islet cell tumour;   islet of Langerhans tumor;   malignant pancreatic Endocrine tumour;   malignant pancreatic endocrine tumor;   malignant tumor of endocrine pancreas;   malignant tumour of endocrine pancreas;   pancreatic endocrine neoplasm;   pancreatic islet cell tumors;   pancreatic neuroendocrine tumor
 xref: ICD10CM:C25.4;   ICD10CM:D13.7;   NCI:C27031;   NCI:C27720;   NCI:C34050
For additional species annotation, visit the Alliance of Genome Resources.



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islet cell tumor term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atrx ATRX, chromatin remodeler disease_progression ISO protein:decreased expression:pancreas: RGD PMID:24148618 RGD:9586032 NCBI chr  X:70,850,981...70,997,330
Ensembl chr  X:70,850,981...70,997,330
JBrowse link
G Cdk4 cyclin-dependent kinase 4 ISO protein:increased expression:pancreas, islet of Langerhans (human) RGD PMID:22761470 RGD:13452384 NCBI chr 7:62,885,647...62,889,562
Ensembl chr 7:62,883,105...62,942,403
JBrowse link
G Daxx death-domain associated protein disease_progression ISO RGD PMID:21252315 RGD:9587819 NCBI chr20:4,970,090...4,976,145
Ensembl chr20:4,970,092...4,975,843
JBrowse link
G Pcsk1 proprotein convertase subtilisin/kexin type 1 IEP protein:increased expression:insulinoma (rat) RGD PMID:7925129 RGD:2308920 NCBI chr 2:4,395,543...4,442,434
Ensembl chr 2:4,395,543...4,442,434
JBrowse link
duodenal gastrinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Men1 menin 1 ISO associated with Neuroendocrine Tumors; DNA:loss of heterozygosity: : RGD PMID:17135306 RGD:2317341 NCBI chr 1:203,638,905...203,644,871
Ensembl chr 1:203,639,000...203,644,871
JBrowse link
gastrinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Igf1r insulin-like growth factor 1 receptor ISO mRNA and protein: increased expression::poor prognosis for high expression RGD PMID:15867218 RGD:7242847 NCBI chr 1:121,549,839...121,838,545
Ensembl chr 1:121,550,743...121,831,777
JBrowse link
G Men1 menin 1 ISO DNA:mutations: :
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:17961653 PMID:15944766 RGD:2317354 NCBI chr 1:203,638,905...203,644,871
Ensembl chr 1:203,639,000...203,644,871
JBrowse link
G Met MET proto-oncogene, receptor tyrosine kinase severity ISO associated with Zollinger-Ellison Syndrome; mRNA:increased expression:tumor (human) RGD PMID:12114431 RGD:2317605 NCBI chr 4:45,790,456...45,898,139
Ensembl chr 4:45,790,791...45,897,876
JBrowse link
G Mgmt O-6-methylguanine-DNA methyltransferase ISO DNA:hypomethylation:promoter (human) RGD PMID:17278096 RGD:2317340 NCBI chr 1:191,710,980...191,937,760
Ensembl chr 1:191,710,930...191,937,756
JBrowse link
G Slc2a2 solute carrier family 2 member 2 ISO mRNA:decreased expression:pancreatic islet RGD PMID:12114701 PMID:8421107 RGD:2324976, RGD:2324977 NCBI chr 2:111,609,798...111,639,930
Ensembl chr 2:111,611,774...111,639,933
JBrowse link
Glucagonoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Btc betacellulin ISO protein:increased expression:pancreas RGD PMID:10724350 RGD:2326087 NCBI chr14:16,708,447...16,746,961
Ensembl chr14:16,707,982...16,747,049
JBrowse link
G Men1 menin 1 ISO DNA:deletion:exon
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:17961653 PMID:20138042 RGD:2317288 NCBI chr 1:203,638,905...203,644,871
Ensembl chr 1:203,639,000...203,644,871
JBrowse link
G Slc2a2 solute carrier family 2 member 2 ISO mRNA:decreased expression:pancreatic islet RGD PMID:12114701 PMID:8421107 RGD:2324976, RGD:2324977 NCBI chr 2:111,609,798...111,639,930
Ensembl chr 2:111,611,774...111,639,933
JBrowse link
G Sstr4 somatostatin receptor 4 ISO RGD PMID:8132773 RGD:2324994 NCBI chr 3:135,854,826...135,856,689
Ensembl chr 3:135,854,826...135,856,689
JBrowse link
Islet Cell Tumor Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kif1b kinesin family member 1B ISO ClinVar Annotator: match by term: Chromaffinoma ClinVar PMID:18334619 PMID:18726616 NCBI chr 5:159,607,697...159,742,778
Ensembl chr 5:159,561,271...159,742,778
JBrowse link
G Mpz myelin protein zero ISO ClinVar Annotator: match by term: Chromaffinoma ClinVar PMID:12807974 PMID:17468193 PMID:19454582 PMID:23342407 PMID:24033266 More... NCBI chr13:83,570,811...83,576,680
Ensembl chr13:83,570,811...83,576,679
JBrowse link
G Ret ret proto-oncogene ISO ClinVar Annotator: match by term: Chromaffinoma ClinVar PMID:2660074 PMID:3078962 PMID:7536460 PMID:7824936 PMID:7845675 More... NCBI chr 4:151,325,969...151,368,176
Ensembl chr 4:151,326,431...151,368,176
JBrowse link
G Sdhb succinate dehydrogenase complex iron sulfur subunit B ISO ClinVar Annotator: match by term: Chromaffinoma ClinVar PMID:12364472 PMID:12618761 PMID:14500403 PMID:15328326 PMID:16199547 More... NCBI chr 5:153,264,906...153,285,570
Ensembl chr 5:153,264,899...153,314,293
JBrowse link
G Sdhc succinate dehydrogenase complex subunit C ISO ClinVar Annotator: match by term: Chromaffinoma ClinVar PMID:12807974 PMID:17468193 PMID:19454582 PMID:23342407 PMID:24033266 More... NCBI chr13:83,544,652...83,565,560
Ensembl chr13:83,544,652...83,566,253
JBrowse link
G Sdhd succinate dehydrogenase complex subunit D ISO ClinVar Annotator: match by term: Chromaffinoma ClinVar PMID:10657297 PMID:11156372 PMID:11526495 PMID:12007193 PMID:12111639 More... NCBI chr 8:50,944,717...50,954,298
Ensembl chr 8:50,944,704...50,954,238
JBrowse link
non-functioning pancreatic endocrine tumor term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arid1a AT-rich interaction domain 1A exacerbates ISO protein:decreased expression:endocrine pancreas (human) RGD PMID:32282764 RGD:126790640 NCBI chr 5:145,908,181...145,981,609
Ensembl chr 5:145,908,181...145,985,564
JBrowse link
G Cdk4 cyclin-dependent kinase 4 ISO associated with multiple endocrine neoplasia type 1;mRNA:increased expression:islet of Langerhans (human) RGD PMID:29149451 RGD:13781946 NCBI chr 7:62,885,647...62,889,562
Ensembl chr 7:62,883,105...62,942,403
JBrowse link
G Cdk6 cyclin-dependent kinase 6 ISO associated with multiple endocrine neoplasia type 1;mRNA:increased expression:islet of Langerhans (human) RGD PMID:29149451 RGD:13781946 NCBI chr 4:30,637,650...30,829,688
Ensembl chr 4:30,646,460...30,829,634
JBrowse link
pancreatic endocrine carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Brca2 BRCA2, DNA repair associated ISO ClinVar Annotator: match by term: Neuroendocrine tumor of pancreas ClinVar PMID:15145354 PMID:25741868 NCBI chr12:59,492...103,789
Ensembl chr12:59,819...100,567
JBrowse link
G Mgmt O-6-methylguanine-DNA methyltransferase ISO DNA:hypermethylation:promoter (human) RGD PMID:14501508 RGD:2317661 NCBI chr 1:191,710,980...191,937,760
Ensembl chr 1:191,710,930...191,937,756
JBrowse link
G Palb2 partner and localizer of BRCA2 ISO ClinVar Annotator: match by term: Neuroendocrine tumor of pancreas ClinVar PMID:25741868 NCBI chr 1:176,665,076...176,689,053
Ensembl chr 1:176,665,076...176,688,990
JBrowse link
G Pgf placental growth factor disease_progression
treatment
ISO protein:increased expression:serum (human)
human cells in a mouse model
RGD PMID:23463017 PMID:26861455 RGD:14349029, RGD:14349030 NCBI chr 6:104,816,102...104,826,685
Ensembl chr 6:104,816,104...104,826,685
JBrowse link
vipoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Men1 menin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17961653 NCBI chr 1:203,638,905...203,644,871
Ensembl chr 1:203,639,000...203,644,871
JBrowse link
G Sst somatostatin ISO CTD Direct Evidence: therapeutic CTD PMID:2868874 NCBI chr11:76,956,896...76,958,173
Ensembl chr11:76,956,896...76,958,173
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17240
    disease of anatomical entity 16581
      endocrine system disease 5824
        endocrine gland cancer 2348
          pancreatic cancer 388
            islet cell tumor 23
              Islet Cell Tumor Syndrome 6
              non-functioning pancreatic endocrine tumor + 3
              pancreatic ACTH hormone producing tumor 0
              pancreatic delta cell neoplasm + 0
              pancreatic endocrine carcinoma + 11
              pancreatic gastrinoma 0
              pancreatic somatostatinoma 0
Path 2
Term Annotations click to browse term
  disease 17240
    disease of cellular proliferation 7045
      Neoplasms by Site 6687
        organ system cancer 4832
          nervous system cancer 1064
            neuroectodermal tumor 663
              neuroendocrine tumor 492
                islet cell tumor 23
                  Islet Cell Tumor Syndrome 6
                  non-functioning pancreatic endocrine tumor + 3
                  pancreatic ACTH hormone producing tumor 0
                  pancreatic delta cell neoplasm + 0
                  pancreatic endocrine carcinoma + 11
                  pancreatic gastrinoma 0
                  pancreatic somatostatinoma 0
paths to the root