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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: PanNET;   endocrine pancreas cancer;   islet cell neoplasm;   islet cell tumour;   islet of Langerhans tumor;   malignant pancreatic endocrine tumor;   malignant pancreatic endocrine tumour;   malignant tumor of endocrine pancreas;   malignant tumour of endocrine pancreas;   metastatic islet cell carcinoma;   pancreatic endocrine neoplasm;   pancreatic islet cell tumors;   pancreatic neuroendocrine tumor
 xref: EFO:0007331;   EFO:1000045;   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 chrNW_004936683:2,496,307...2,718,539
Ensembl chrNW_004936683:2,495,959...2,718,620 		JBrowse link
G Cdk4 cyclin dependent kinase 4 ISO protein:increased expression:pancreas, islet of Langerhans (human) RGD PMID:22761470 RGD:13452384 NCBI chrNW_004936646:1,886,262...1,889,260 JBrowse link
G Daxx death domain associated protein disease_progression ISO RGD PMID:21252315 RGD:9587819 NCBI chrNW_004936476:25,546,091...25,550,390
Ensembl chrNW_004936476:25,546,036...25,550,392 		JBrowse link
G Pcsk1 proprotein convertase subtilisin/kexin type 1 ISO protein:increased expression:insulinoma (rat) RGD PMID:7925129 RGD:2308920 NCBI chrNW_004936523:7,009,966...7,050,300
Ensembl chrNW_004936523:7,010,068...7,050,468 		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 chrNW_004936599:4,504,489...4,510,085
Ensembl chrNW_004936599:4,504,397...4,510,555 		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 chrNW_004936483:4,563,995...4,860,231
Ensembl chrNW_004936483:4,564,512...4,852,925 		JBrowse link
G Men1 menin 1 ISO DNA:mutations: :
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:15944766 PMID:17961653 RGD:2317354 NCBI chrNW_004936599:4,504,489...4,510,085
Ensembl chrNW_004936599:4,504,397...4,510,555 		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 chrNW_004936589:2,280,803...2,390,179
Ensembl chrNW_004936589:2,280,799...2,390,179 		JBrowse link
G Mgmt O-6-methylguanine-DNA methyltransferase ISO DNA:hypomethylation:promoter (human) RGD PMID:17278096 RGD:2317340 NCBI chrNW_004936486:16,744,607...16,923,209
Ensembl chrNW_004936486:16,744,570...16,923,543 		JBrowse link
G Slc2a2 solute carrier family 2 member 2 ISO mRNA:decreased expression:pancreatic islet RGD PMID:8421107 PMID:12114701 RGD:2324976 RGD:2324977 NCBI chrNW_004936593:1,572,661...1,605,071
Ensembl chrNW_004936593:1,572,672...1,604,947 		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 chrNW_004936598:971,253...1,019,043
Ensembl chrNW_004936598:971,241...1,019,121 		JBrowse link
G Men1 menin 1 ISO DNA:deletion:exon
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:17961653 PMID:20138042 RGD:2317288 NCBI chrNW_004936599:4,504,489...4,510,085
Ensembl chrNW_004936599:4,504,397...4,510,555 		JBrowse link
G Slc2a2 solute carrier family 2 member 2 ISO mRNA:decreased expression:pancreatic islet RGD PMID:8421107 PMID:12114701 RGD:2324976 RGD:2324977 NCBI chrNW_004936593:1,572,661...1,605,071
Ensembl chrNW_004936593:1,572,672...1,604,947 		JBrowse link
G Sstr4 somatostatin receptor 4 ISO RGD PMID:8132773 RGD:2324994 NCBI chrNW_004936620:2,575,880...2,577,761
Ensembl chrNW_004936620:2,576,598...2,577,761 		JBrowse link
Islet Cell Tumor Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC101978376 protein farnesyltransferase subunit beta ISO ClinVar Annotator: match by term: Chromaffinoma ClinVar PMID:25741868 NCBI chrNW_004936495:8,637,103...8,713,952
Ensembl chrNW_004936495:8,567,894...8,713,978 		JBrowse link
G Max MYC associated factor X ISO ClinVar Annotator: match by term: Chromaffinoma ClinVar PMID:21685915 PMID:22452945 PMID:23666964 PMID:25741868 PMID:26070438 More... NCBI chrNW_004936495:8,728,941...8,755,742
Ensembl chrNW_004936495:8,728,940...8,755,799 		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 chrNW_004936903:583,942...589,160
Ensembl chrNW_004936903:583,942...589,160 		JBrowse link
G Ret ret proto-oncogene ISO ClinVar Annotator: match by term: Chromaffinoma ClinVar PMID:2660074 PMID:3078962 PMID:7536460 PMID:7704557 PMID:7824936 More... NCBI chrNW_004936617:2,927,185...2,980,594
Ensembl chrNW_004936617:2,927,155...2,980,602 		JBrowse link
G Sdhaf2 succinate dehydrogenase complex assembly factor 2 ISO ClinVar Annotator: match by term: Chromaffinoma ClinVar PMID:28492532 NCBI chrNW_004936581:1,607,741...1,628,347
Ensembl chrNW_004936581:1,607,698...1,628,414 		JBrowse link
G Sdhb succinate dehydrogenase complex iron sulfur subunit B ISO ClinVar Annotator: match by term: Chromaffinoma ClinVar PMID:490809 PMID:2308387 PMID:9509062 PMID:9536098 PMID:11404820 More... NCBI chrNW_004936474:3,993,224...4,021,359
Ensembl chrNW_004936474:3,990,778...4,021,423 		JBrowse link
G Sdhc succinate dehydrogenase complex subunit C ISO ClinVar Annotator: match by term: Chromaffinoma ClinVar PMID:12807974 PMID:17468193 PMID:19454582 PMID:22703879 PMID:23342407 More... NCBI chrNW_004936903:592,641...636,845
Ensembl chrNW_004936903:601,355...636,092 		JBrowse link
G Sdhd succinate dehydrogenase complex subunit D ISO ClinVar Annotator: match by term: Chromaffinoma ClinVar PMID:1945482 PMID:8981955 PMID:9536098 PMID:9683583 PMID:10323245 More... NCBI chrNW_004936612:2,357,336...2,369,204 JBrowse link
G Tmem127 transmembrane protein 127 ISO ClinVar Annotator: match by term: Chromaffinoma ClinVar PMID:9536098 PMID:16199547 PMID:16266984 PMID:17576681 PMID:20154675 More... NCBI chrNW_004936744:344,356...359,086
Ensembl chrNW_004936744:344,356...359,044 		JBrowse link
G Vhl von Hippel-Lindau tumor suppressor ISO ClinVar Annotator: match by term: Chromaffinoma ClinVar PMID:7660122 PMID:7728151 PMID:7784063 PMID:7987306 PMID:8270255 More... NCBI chrNW_004936602:3,135,790...3,140,622 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 chrNW_004936474:11,148,857...11,197,312 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 chrNW_004936646:1,886,262...1,889,260 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 chrNW_004936803:1,025,047...1,229,396
Ensembl chrNW_004936803:1,024,779...1,227,516 		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:22762150 PMID:25741868 PMID:29446198 NCBI chrNW_004936472:26,945,659...27,017,693 JBrowse link
G Cux1 cut like homeobox 1 exacerbates ISO protein:increased expression:pancreas (human) RGD PMID:32707646 RGD:153297777 NCBI chrNW_004936543:1,482,606...1,781,294
Ensembl chrNW_004936543:1,485,970...1,796,070 		JBrowse link
G Daxx death domain associated protein disease_progression ISO DNA:frameshift, frameshift mutations, nonsense mutation, missense mutations:CDS:multiple (human) RGD PMID:29212165 RGD:152025205 NCBI chrNW_004936476:25,546,091...25,550,390
Ensembl chrNW_004936476:25,546,036...25,550,392 		JBrowse link
G Mgmt O-6-methylguanine-DNA methyltransferase ISO DNA:hypermethylation:promoter (human) RGD PMID:14501508 RGD:2317661 NCBI chrNW_004936486:16,744,607...16,923,209
Ensembl chrNW_004936486:16,744,570...16,923,543 		JBrowse link
G Palb2 partner and localizer of BRCA2 ISO ClinVar Annotator: match by term: Neuroendocrine tumor of pancreas ClinVar PMID:17200668 PMID:17200671 PMID:17200672 PMID:24136930 PMID:25099575 More... NCBI chrNW_004936501:8,246,927...8,273,258 JBrowse link
G Pgf placental growth factor treatment
disease_progression		 ISO human cells in a mouse model
protein:increased expression:serum (human)		 RGD PMID:23463017 PMID:26861455 RGD:14349029 RGD:14349030 NCBI chrNW_004936488:4,098,187...4,111,108
Ensembl chrNW_004936488:4,098,225...4,111,142 		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 chrNW_004936599:4,504,489...4,510,085
Ensembl chrNW_004936599:4,504,397...4,510,555 		JBrowse link
G Sst somatostatin ISO CTD Direct Evidence: therapeutic CTD PMID:2868874 NCBI chrNW_004936578:2,464,310...2,465,673
Ensembl chrNW_004936578:2,464,212...2,465,701 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16465
    disease of anatomical entity 14117
      endocrine system disease 5609
        endocrine gland cancer 2188
          pancreatic cancer 397
            islet cell tumor 28
              Islet Cell Tumor Syndrome 10
              non-functioning pancreatic endocrine tumor + 3
              pancreatic ACTH hormone producing tumor 0
              pancreatic delta cell neoplasm + 0
              pancreatic endocrine carcinoma + 13
              pancreatic gastrinoma 0
              pancreatic somatostatinoma 0
Path 2
Term Annotations click to browse term
  disease 16465
    disease of cellular proliferation 6811
      Neoplasms by Site 6305
        organ system cancer 4705
          nervous system cancer 857
            neuroectodermal tumor 404
              neuroendocrine tumor 196
                islet cell tumor 28
                  Islet Cell Tumor Syndrome 10
                  non-functioning pancreatic endocrine tumor + 3
                  pancreatic ACTH hormone producing tumor 0
                  pancreatic delta cell neoplasm + 0
                  pancreatic endocrine carcinoma + 13
                  pancreatic gastrinoma 0
                  pancreatic somatostatinoma 0
paths to the root