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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 chr  X:61,584,028...61,872,341
Ensembl chr  X:61,584,848...61,872,287 		JBrowse link
G CDK4 cyclin dependent kinase 4 ISO protein:increased expression:pancreas, islet of Langerhans (human) RGD PMID:22761470 RGD:13452384 NCBI chr 5:23,039,206...23,041,959
Ensembl chr 5:23,038,891...23,042,061 		JBrowse link
G DAXX death domain associated protein disease_progression ISO RGD PMID:21252315 RGD:9587819 NCBI chr 7:29,676,854...29,681,145
Ensembl chr 7:29,676,856...29,681,110 		JBrowse link
G PCSK1 proprotein convertase subtilisin/kexin type 1 ISO protein:increased expression:insulinoma (rat) RGD PMID:7925129 RGD:2308920 NCBI chr 2:103,004,794...103,050,707
Ensembl chr 2:103,004,794...103,050,839 		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 2:7,358,130...7,364,952
Ensembl chr 2:7,358,218...7,364,952 		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 1:137,383,623...137,691,038
Ensembl chr 1:137,387,825...137,691,058 		JBrowse link
G MEN1 menin 1 ISO CTD Direct Evidence: marker/mechanism
DNA:mutations: :		 CTD
RGD		 PMID:15944766 PMID:17961653 RGD:2317354 NCBI chr 2:7,358,130...7,364,952
Ensembl chr 2:7,358,218...7,364,952 		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 chr18:29,426,044...29,541,526
Ensembl chr18:29,426,048...29,541,512 		JBrowse link
G MGMT O-6-methylguanine-DNA methyltransferase ISO DNA:hypomethylation:promoter (human) RGD PMID:17278096 RGD:2317340 NCBI chr14:138,502,005...138,771,543
Ensembl chr14:138,499,309...138,771,540 		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 chr13:109,592,595...109,614,105
Ensembl chr13:109,587,258...109,638,510 		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 chr 8:70,645,721...70,697,538
Ensembl chr 8:70,649,317...70,697,420 		JBrowse link
G MEN1 menin 1 ISO CTD Direct Evidence: marker/mechanism
DNA:deletion:exon		 CTD
RGD		 PMID:17961653 PMID:20138042 RGD:2317288 NCBI chr 2:7,358,130...7,364,952
Ensembl chr 2:7,358,218...7,364,952 		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 chr13:109,592,595...109,614,105
Ensembl chr13:109,587,258...109,638,510 		JBrowse link
Islet Cell Tumor Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FNTB farnesyltransferase, CAAX box, beta ISO ClinVar Annotator: match by term: Chromaffinoma ClinVar PMID:25741868 NCBI chr 7:89,052,451...89,131,075
Ensembl chr 7:89,052,507...89,131,072 		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 chr 7:89,142,966...89,168,265
Ensembl chr 7:89,142,969...89,168,201 		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 chr 4:89,174,107...89,179,556
Ensembl chr 4:89,169,311...89,179,925 		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 chr14:61,305,818...61,361,416
Ensembl chr14:61,305,841...61,361,412 		JBrowse link
G SDHAF2 succinate dehydrogenase complex assembly factor 2 ISO ClinVar Annotator: match by term: Chromaffinoma ClinVar PMID:28492532 NCBI chr 2:10,074,965...10,088,185
Ensembl chr 2:10,072,920...10,088,117 		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 chr 6:75,648,362...75,678,111
Ensembl chr 6:75,648,215...75,678,378 		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 chr 4:89,135,410...89,169,164
Ensembl chr 4:89,130,379...89,169,118 		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 chr 9:39,790,654...39,803,602
Ensembl chr 9:39,790,595...39,803,950 		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 chr 3:46,966,858...47,017,659
Ensembl chr 3:46,966,892...46,978,810 		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 chr13:66,334,535...66,342,401
Ensembl chr13:66,334,591...66,342,654 		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 6:84,049,729...84,124,302
Ensembl chr 6:84,049,087...84,123,349 		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 5:23,039,206...23,041,959
Ensembl chr 5:23,038,891...23,042,061 		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 9:72,510,858...72,765,631
Ensembl chr 9:72,518,101...72,764,129 		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 chr11:8,805,950...8,858,128
Ensembl chr11:8,805,953...8,858,418 		JBrowse link
G CUX1 cut like homeobox 1 exacerbates ISO protein:increased expression:pancreas (human) RGD PMID:32707646 RGD:153297777 NCBI chr 3:9,317,145...9,669,999
Ensembl chr 3:9,317,140...9,669,998 		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 chr 7:29,676,854...29,681,145
Ensembl chr 7:29,676,856...29,681,110 		JBrowse link
G MGMT O-6-methylguanine-DNA methyltransferase ISO DNA:hypermethylation:promoter (human) RGD PMID:14501508 RGD:2317661 NCBI chr14:138,502,005...138,771,543
Ensembl chr14:138,499,309...138,771,540 		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 chr 3:22,586,881...22,612,837
Ensembl chr 3:22,586,856...22,612,834 		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 chr 7:98,149,510...98,162,784
Ensembl chr 7:98,148,994...98,162,741 		JBrowse link
vipoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IFNA1 interferon, alpha 1 ISO CTD Direct Evidence: therapeutic CTD PMID:17961653 NCBI chr 1:201,515,835...201,516,477
Ensembl chr 1:201,515,809...201,516,488 		JBrowse link
G MEN1 menin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17961653 NCBI chr 2:7,358,130...7,364,952
Ensembl chr 2:7,358,218...7,364,952 		JBrowse link
G SST somatostatin ISO CTD Direct Evidence: therapeutic CTD PMID:2868874 NCBI chr13:125,337,560...125,338,742
Ensembl chr13:125,337,418...125,338,850 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17415
    disease of anatomical entity 14875
      endocrine system disease 5955
        endocrine gland cancer 2327
          pancreatic cancer 401
            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 17415
    disease of cellular proliferation 7153
      Neoplasms by Site 6636
        organ system cancer 4956
          nervous system cancer 891
            neuroectodermal tumor 422
              neuroendocrine tumor 209
                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