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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 Cdk4 cyclin dependent kinase 4 ISO protein:increased expression:pancreas, islet of Langerhans (human) RGD PMID:22761470 RGD:13452384 NCBI chrNW_004624802:10,191,679...10,194,585
Ensembl chrNW_004624802:10,191,014...10,194,275 		JBrowse link
G Daxx death domain associated protein disease_progression ISO RGD PMID:21252315 RGD:9587819 NCBI chrNW_004624754:23,504,465...23,509,034
Ensembl chrNW_004624754:23,505,386...23,509,241 		JBrowse link
G Pcsk1 proprotein convertase subtilisin/kexin type 1 ISO protein:increased expression:insulinoma (rat) RGD PMID:7925129 RGD:2308920 NCBI chrNW_004624743:14,993,436...15,036,512
Ensembl chrNW_004624743:14,994,172...15,036,412 		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_004624767:21,579,084...21,585,380
Ensembl chrNW_004624767:21,579,103...21,585,373 		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_004624768:5,396,027...5,688,435
Ensembl chrNW_004624768:5,396,156...5,681,809 		JBrowse link
G Men1 menin 1 ISO CTD Direct Evidence: marker/mechanism
DNA:mutations: : 		CTD
RGD		 PMID:15944766 PMID:17961653 RGD:2317354 NCBI chrNW_004624767:21,579,084...21,585,380
Ensembl chrNW_004624767:21,579,103...21,585,373 		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_004624827:2,589,157...2,724,065
Ensembl chrNW_004624827:2,587,966...2,723,995 		JBrowse link
G Mgmt O-6-methylguanine-DNA methyltransferase ISO DNA:hypomethylation:promoter (human) RGD PMID:17278096 RGD:2317340 NCBI chrNW_004624737:17,271,881...17,619,123
Ensembl chrNW_004624737:17,271,992...17,528,889 		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_004624730:49,026,603...49,056,363
Ensembl chrNW_004624730:49,025,766...49,056,284 		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_004624730:917,514...975,159
Ensembl chrNW_004624730:917,630...976,934 		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_004624767:21,579,084...21,585,380
Ensembl chrNW_004624767:21,579,103...21,585,373 		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_004624730:49,026,603...49,056,363
Ensembl chrNW_004624730:49,025,766...49,056,284 		JBrowse link
Islet Cell Tumor Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ciao1 cytosolic iron-sulfur assembly component 1 ISO ClinVar Annotator: match by term: Chromaffinoma ClinVar PMID:25741868 PMID:26267327 PMID:26467025 PMID:28492532 PMID:33051659 More... NCBI chrNW_004624749:2,344,833...2,350,986
Ensembl chrNW_004624749:2,344,743...2,351,358 		JBrowse link
G Fntb farnesyltransferase, CAAX box, subunit beta ISO ClinVar Annotator: match by term: Chromaffinoma ClinVar NCBI chrNW_004624734:35,965,240...36,051,685
Ensembl chrNW_004624734:35,964,914...36,117,852 		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_004624734:35,925,827...35,952,375 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_004624794:101,095...106,508
Ensembl chrNW_004624794:100,824...106,444 		JBrowse link
G Nf1 neurofibromin 1 ISO ClinVar Annotator: match by term: Chromaffinoma ClinVar PMID:1568247 PMID:8264648 PMID:8499944 PMID:8499945 PMID:8669813 More... NCBI chrNW_004624875:3,636,762...3,959,991
Ensembl chrNW_004624875:3,636,924...3,956,576 		JBrowse link
G Ret ret proto-oncogene ISO ClinVar Annotator: match by term: Chromaffinoma ClinVar PMID:2008030 PMID:2660074 PMID:2904651 PMID:3078962 PMID:7536460 More... NCBI chrNW_004624922:382,462...413,227
Ensembl chrNW_004624922:382,399...413,281 		JBrowse link
G Sdhaf2 succinate dehydrogenase complex assembly factor 2 ISO ClinVar Annotator: match by term: Chromaffinoma ClinVar PMID:28492532 NCBI chrNW_004624926:792,172...802,838
Ensembl chrNW_004624926:792,173...801,954 		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_004624764:2,655,138...2,679,138
Ensembl chrNW_004624764:2,650,604...2,679,005 		JBrowse link
G Sdhc succinate dehydrogenase complex subunit C ISO ClinVar Annotator: match by term: Chromaffinoma ClinVar PMID:12807974 PMID:17468193 PMID:19454582 PMID:22517554 PMID:22703879 More... NCBI chrNW_004624794:55,907...97,991
Ensembl chrNW_004624794:54,143...98,292 		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_004624784:7,241,770...7,252,016
Ensembl chrNW_004624784:7,241,836...7,251,916 		JBrowse link
G Tmem127 transmembrane protein 127 ISO ClinVar Annotator: match by term: Chromaffinoma ClinVar PMID:9536098 PMID:16266984 PMID:17576681 PMID:20154675 PMID:20923864 More... NCBI chrNW_004624749:2,333,472...2,344,652
Ensembl chrNW_004624749:2,333,472...2,344,674 		JBrowse link
G Vhl von Hippel-Lindau tumor suppressor ISO ClinVar Annotator: match by term: Chromaffinoma ClinVar PMID:7563486 PMID:7987306 PMID:8707293 PMID:8772572 PMID:8956040 More... NCBI chrNW_004624731:5,350,912...5,359,286 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_004624764:10,672,673...10,759,634
Ensembl chrNW_004624764:10,672,735...10,759,634 		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_004624802:10,191,679...10,194,585
Ensembl chrNW_004624802:10,191,014...10,194,275 		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_004624809:349,453...588,986
Ensembl chrNW_004624809:349,404...579,599 		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_004624776:5,497,552...5,573,465
Ensembl chrNW_004624776:5,497,779...5,550,993 		JBrowse link
G Cux1 cut like homeobox 1 exacerbates ISO protein:increased expression:pancreas (human) RGD PMID:32707646 RGD:153297777 NCBI chrNW_004624740:15,289,616...15,664,090
Ensembl chrNW_004624740:15,287,421...15,664,077 		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_004624754:23,504,465...23,509,034
Ensembl chrNW_004624754:23,505,386...23,509,241 		JBrowse link
G Mgmt O-6-methylguanine-DNA methyltransferase ISO DNA:hypermethylation:promoter (human) RGD PMID:14501508 RGD:2317661 NCBI chrNW_004624737:17,271,881...17,619,123
Ensembl chrNW_004624737:17,271,992...17,528,889 		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_004624782:8,752,510...8,780,972
Ensembl chrNW_004624782:8,751,866...8,780,884 		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_004624734:26,751,986...26,764,154
Ensembl chrNW_004624734:26,751,530...26,764,242 		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_004624767:21,579,084...21,585,380
Ensembl chrNW_004624767:21,579,103...21,585,373 		JBrowse link
G Sst somatostatin ISO CTD Direct Evidence: therapeutic CTD PMID:2868874 NCBI chrNW_004624730:69,213,917...69,215,296
Ensembl chrNW_004624730:69,213,781...69,215,477 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14234
    disease of anatomical entity 13936
      endocrine system disease 5729
        endocrine gland cancer 2272
          pancreatic cancer 379
            islet cell tumor 28
              Islet Cell Tumor Syndrome 12
              non-functioning pancreatic endocrine tumor + 3
              pancreatic ACTH hormone producing tumor 0
              pancreatic delta cell neoplasm + 0
              pancreatic endocrine carcinoma + 12
              pancreatic gastrinoma 0
              pancreatic somatostatinoma 0
Path 2
Term Annotations click to browse term
  disease 14234
    disease of cellular proliferation 6854
      Neoplasms by Site 6352
        organ system cancer 4807
          nervous system cancer 810
            neuroectodermal tumor 427
              neuroendocrine tumor 195
                islet cell tumor 28
                  Islet Cell Tumor Syndrome 12
                  non-functioning pancreatic endocrine tumor + 3
                  pancreatic ACTH hormone producing tumor 0
                  pancreatic delta cell neoplasm + 0
                  pancreatic endocrine carcinoma + 12
                  pancreatic gastrinoma 0
                  pancreatic somatostatinoma 0
paths to the root