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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 IEP protein:decreased expression:pancreas: RGD PMID:24148618 RGD:9586032 NCBI chr  X:77,504,880...77,786,216
Ensembl chr  X:77,504,880...77,786,233 		JBrowse link
G CDK4 cyclin dependent kinase 4 IEP protein:increased expression:pancreas, islet of Langerhans (human) RGD PMID:22761470 RGD:13452384 NCBI chr12:57,747,727...57,752,310
Ensembl chr12:57,747,727...57,756,013 		JBrowse link
G DAXX death domain associated protein disease_progression IAGP RGD PMID:21252315 RGD:9587819 NCBI chr 6:33,318,558...33,322,959
Ensembl chr 6:33,318,558...33,323,016 		JBrowse link
G PCSK1 proprotein convertase subtilisin/kexin type 1 ISO protein:increased expression:insulinoma (rat) RGD PMID:7925129 RGD:2308920 NCBI chr 5:96,390,333...96,433,248
Ensembl chr 5:96,390,333...96,434,143 		JBrowse link
duodenal gastrinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MEN1 menin 1 IAGP associated with Neuroendocrine Tumors; DNA:loss of heterozygosity: : RGD PMID:17135306 RGD:2317341 NCBI chr11:64,803,516...64,811,294
Ensembl chr11:64,803,510...64,811,294 		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 IEP mRNA and protein: increased expression::poor prognosis for high expression RGD PMID:15867218 RGD:7242847 NCBI chr15:98,648,539...98,964,530
Ensembl chr15:98,648,539...98,964,530 		JBrowse link
G MEN1 menin 1 IAGP
EXP 		DNA:mutations: :
CTD Direct Evidence: marker/mechanism 		CTD
RGD		 PMID:17961653 PMID:15944766 RGD:2317354 NCBI chr11:64,803,516...64,811,294
Ensembl chr11:64,803,510...64,811,294 		JBrowse link
G MET MET proto-oncogene, receptor tyrosine kinase severity IEP associated with Zollinger-Ellison Syndrome; mRNA:increased expression:tumor (human) RGD PMID:12114431 RGD:2317605 NCBI chr 7:116,672,196...116,798,377
Ensembl chr 7:116,672,196...116,798,377 		JBrowse link
G MGMT O-6-methylguanine-DNA methyltransferase IAGP DNA:hypomethylation:promoter (human) RGD PMID:17278096 RGD:2317340 NCBI chr10:129,467,241...129,770,983
Ensembl chr10:129,467,190...129,770,983 		JBrowse link
G SLC2A2 solute carrier family 2 member 2 IEP mRNA:decreased expression:pancreatic islet RGD PMID:8421107 PMID:12114701 RGD:2324977, RGD:2324976 NCBI chr 3:170,996,347...171,026,720
Ensembl chr 3:170,996,347...171,026,743 		JBrowse link
Glucagonoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BTC betacellulin IEP protein:increased expression:pancreas RGD PMID:10724350 RGD:2326087 NCBI chr 4:74,744,759...74,794,523
Ensembl chr 4:74,744,759...74,794,523 		JBrowse link
G MEN1 menin 1 ISO
EXP 		DNA:deletion:exon
CTD Direct Evidence: marker/mechanism 		CTD
RGD		 PMID:17961653 PMID:20138042 RGD:2317288 NCBI chr11:64,803,516...64,811,294
Ensembl chr11:64,803,510...64,811,294 		JBrowse link
G SLC2A2 solute carrier family 2 member 2 IEP mRNA:decreased expression:pancreatic islet RGD PMID:8421107 PMID:12114701 RGD:2324977, RGD:2324976 NCBI chr 3:170,996,347...171,026,720
Ensembl chr 3:170,996,347...171,026,743 		JBrowse link
G SSTR4 somatostatin receptor 4 IEP RGD PMID:8132773 RGD:2324994 NCBI chr20:23,035,312...23,039,237
Ensembl chr20:23,035,312...23,039,237 		JBrowse link
Islet Cell Tumor Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AL139022.1 novel transcript, antisense to MAX IAGP ClinVar Annotator: match by term: Chromaffinoma ClinVar PMID:21685915 PMID:22452945 PMID:25741868 PMID:26070438 PMID:27838885 More... NCBI chr14:65,089,918...65,094,311
Ensembl chr14:65,082,034...65,094,212 		JBrowse link
G CHURC1-FNTB CHURC1-FNTB readthrough IAGP ClinVar Annotator: match by term: Chromaffinoma ClinVar NCBI chr14:64,914,361...65,062,655
Ensembl chr14:64,986,895...65,062,652
Ensembl chr14:64,986,895...65,062,652 		JBrowse link
G CIAO1 cytosolic iron-sulfur assembly component 1 IAGP ClinVar Annotator: match by term: Chromaffinoma ClinVar PMID:25741868 PMID:26267327 PMID:26467025 PMID:28492532 PMID:33051659 More... NCBI chr 2:96,266,225...96,274,173
Ensembl chr 2:96,266,159...96,274,173 		JBrowse link
G FNTB farnesyltransferase, CAAX box, subunit beta IAGP ClinVar Annotator: match by term: Chromaffinoma ClinVar NCBI chr14:64,986,895...65,062,650
Ensembl chr14:64,986,895...65,062,652 		JBrowse link
G LOC106736614 RET 5' regulatory region IAGP ClinVar Annotator: match by term: Chromaffinoma ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr10:43,072,914...43,077,291 JBrowse link
G LOC107303340 3p25 von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase Alu-mediated recombination region IAGP ClinVar Annotator: match by term: Chromaffinoma ClinVar PMID:7563486 PMID:7987306 PMID:8707293 PMID:8772572 PMID:8956040 More... NCBI chr 3:10,142,339...10,160,352 JBrowse link
G LOC126861339 BRD4-independent group 4 enhancer GRCh37_chr11:111957035-111958234 IAGP ClinVar Annotator: match by term: Chromaffinoma ClinVar PMID:10657297 PMID:11156372 PMID:11391796 PMID:11526495 PMID:12007193 More... NCBI chr11:112,086,311...112,087,510 JBrowse link
G LOC126861966 MED14-independent group 3 enhancer GRCh37_chr14:65471811-65473010 IAGP ClinVar Annotator: match by term: Chromaffinoma ClinVar NCBI chr14:65,005,093...65,006,292 JBrowse link
G LOC129929541 ATAC-STARR-seq lymphoblastoid active region 276 IAGP ClinVar Annotator: match by term: Chromaffinoma ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:17,018,964...17,019,013 JBrowse link
G LOC129929542 ATAC-STARR-seq lymphoblastoid active region 277 IAGP ClinVar Annotator: match by term: Chromaffinoma ClinVar PMID:9536098 PMID:16317055 PMID:16472267 PMID:16912137 PMID:17376234 More... NCBI chr 1:17,053,912...17,053,971 JBrowse link
G LOC129934333 ATAC-STARR-seq lymphoblastoid silent region 11759 IAGP ClinVar Annotator: match by term: Chromaffinoma ClinVar PMID:20154675 PMID:20923864 PMID:21156949 PMID:22541004 PMID:25741868 More... NCBI chr 2:96,265,257...96,265,566 JBrowse link
G LOC130055850 ATAC-STARR-seq lymphoblastoid silent region 5847 IAGP ClinVar Annotator: match by term: Chromaffinoma ClinVar PMID:22452945 PMID:25741868 PMID:26070438 PMID:28492532 PMID:34130653 NCBI chr14:65,102,102...65,102,451 JBrowse link
G MAX MYC associated factor X IAGP ClinVar Annotator: match by term: Chromaffinoma ClinVar PMID:21685915 PMID:22452945 PMID:23666964 PMID:25741868 PMID:26070438 More... NCBI chr14:65,006,101...65,102,695
Ensembl chr14:65,006,174...65,102,695 		JBrowse link
G MPZ myelin protein zero IAGP ClinVar Annotator: match by term: Chromaffinoma ClinVar PMID:12807974 PMID:17468193 PMID:19454582 PMID:23342407 PMID:24033266 More... NCBI chr 1:161,303,600...161,309,968
Ensembl chr 1:161,304,735...161,309,968 		JBrowse link
G NF1 neurofibromin 1 IAGP ClinVar Annotator: match by term: Chromaffinoma ClinVar PMID:1568247 PMID:8264648 PMID:8499944 PMID:8499945 PMID:8669813 More... NCBI chr17:31,094,927...31,377,677
Ensembl chr17:31,094,927...31,382,116 		JBrowse link
G RET ret proto-oncogene IAGP ClinVar Annotator: match by term: Chromaffinoma ClinVar PMID:2008030 PMID:2660074 PMID:2904651 PMID:3078962 PMID:7536460 More... NCBI chr10:43,077,069...43,130,351
Ensembl chr10:43,077,064...43,130,351 		JBrowse link
G SDHAF2 succinate dehydrogenase complex assembly factor 2 IAGP ClinVar Annotator: match by term: Chromaffinoma ClinVar PMID:28492532 NCBI chr11:61,430,124...61,446,733
Ensembl chr11:61,430,042...61,446,839 		JBrowse link
G SDHB succinate dehydrogenase complex iron sulfur subunit B IAGP ClinVar Annotator: match by term: Chromaffinoma ClinVar PMID:490809 PMID:2308387 PMID:9509062 PMID:9536098 PMID:11404820 More... NCBI chr 1:17,018,722...17,054,032
Ensembl chr 1:17,018,664...17,054,151 		JBrowse link
G SDHC succinate dehydrogenase complex subunit C IAGP ClinVar Annotator: match by term: Chromaffinoma ClinVar PMID:12807974 PMID:17468193 PMID:19454582 PMID:22517554 PMID:22703879 More... NCBI chr 1:161,314,381...161,363,206
Ensembl chr 1:161,314,381...161,363,206 		JBrowse link
G SDHD succinate dehydrogenase complex subunit D IAGP ClinVar Annotator: match by term: Chromaffinoma ClinVar PMID:1945482 PMID:8981955 PMID:9536098 PMID:9683583 PMID:10323245 More... NCBI chr11:112,086,873...112,095,794
Ensembl chr11:112,086,824...112,120,016 		JBrowse link
G TMEM127 transmembrane protein 127 IAGP ClinVar Annotator: match by term: Chromaffinoma ClinVar PMID:9536098 PMID:16266984 PMID:17576681 PMID:20154675 PMID:20923864 More... NCBI chr 2:96,248,514...96,265,997
Ensembl chr 2:96,248,500...96,266,047 		JBrowse link
G VHL von Hippel-Lindau tumor suppressor IAGP ClinVar Annotator: match by term: Chromaffinoma ClinVar PMID:7563486 PMID:7987306 PMID:8707293 PMID:8772572 PMID:8956040 More... NCBI chr 3:10,141,778...10,153,667
Ensembl chr 3:10,141,778...10,153,676 		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 HEP protein:decreased expression:endocrine pancreas (human) RGD PMID:32282764 RGD:126790640 NCBI chr 1:26,696,015...26,782,104
Ensembl chr 1:26,693,236...26,782,104 		JBrowse link
G CDK4 cyclin dependent kinase 4 IEP associated with multiple endocrine neoplasia type 1;mRNA:increased expression:islet of Langerhans (human) RGD PMID:29149451 RGD:13781946 NCBI chr12:57,747,727...57,752,310
Ensembl chr12:57,747,727...57,756,013 		JBrowse link
G CDK6 cyclin dependent kinase 6 IEP associated with multiple endocrine neoplasia type 1;mRNA:increased expression:islet of Langerhans (human) RGD PMID:29149451 RGD:13781946 NCBI chr 7:92,604,921...92,836,573
Ensembl chr 7:92,604,921...92,836,573 		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 IAGP ClinVar Annotator: match by term: Neuroendocrine tumor of pancreas ClinVar PMID:15145354 PMID:22762150 PMID:25741868 PMID:29446198 NCBI chr13:32,315,077...32,400,268
Ensembl chr13:32,315,086...32,400,268 		JBrowse link
G CUX1 cut like homeobox 1 exacerbates HEP protein:increased expression:pancreas (human) RGD PMID:32707646 RGD:153297777 NCBI chr 7:101,816,007...102,283,958
Ensembl chr 7:101,815,904...102,283,958 		JBrowse link
G DAXX death domain associated protein disease_progression IAGP DNA:frameshift, frameshift mutations, nonsense mutation, missense mutations:CDS:multiple (human) RGD PMID:29212165 RGD:152025205 NCBI chr 6:33,318,558...33,322,959
Ensembl chr 6:33,318,558...33,323,016 		JBrowse link
G MGMT O-6-methylguanine-DNA methyltransferase IAGP DNA:hypermethylation:promoter (human) RGD PMID:14501508 RGD:2317661 NCBI chr10:129,467,241...129,770,983
Ensembl chr10:129,467,190...129,770,983 		JBrowse link
G PALB2 partner and localizer of BRCA2 IAGP ClinVar Annotator: match by term: Neuroendocrine tumor of pancreas ClinVar PMID:17200668 PMID:17200671 PMID:17200672 PMID:24136930 PMID:25099575 More... NCBI chr16:23,603,165...23,641,310
Ensembl chr16:23,603,160...23,641,321 		JBrowse link
G PGF placental growth factor disease_progression
treatment 		IEP
IMP 		protein:increased expression:serum (human)
human cells in a mouse model 		RGD PMID:23463017 PMID:26861455 RGD:14349029, RGD:14349030 NCBI chr14:74,941,830...74,955,764
Ensembl chr14:74,941,834...74,955,626 		JBrowse link
vipoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IFNA1 interferon alpha 1 EXP CTD Direct Evidence: therapeutic CTD PMID:17961653 NCBI chr 9:21,440,439...21,441,316
Ensembl chr 9:21,440,439...21,441,316 		JBrowse link
G MEN1 menin 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:17961653 NCBI chr11:64,803,516...64,811,294
Ensembl chr11:64,803,510...64,811,294 		JBrowse link
G SST somatostatin EXP CTD Direct Evidence: therapeutic CTD PMID:2868874 NCBI chr 3:187,668,912...187,670,394
Ensembl chr 3:187,668,912...187,670,394 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 151016
    disease of anatomical entity 138079
      endocrine system disease 24579
        endocrine gland cancer 3966
          pancreatic cancer 682
            islet cell tumor 41
              Islet Cell Tumor Syndrome 22
              non-functioning pancreatic endocrine tumor + 3
              pancreatic ACTH hormone producing tumor 0
              pancreatic delta cell neoplasm + 0
              pancreatic endocrine carcinoma + 14
              pancreatic gastrinoma 0
              pancreatic somatostatinoma 0
Path 2
Term Annotations click to browse term
  disease 151016
    disease of cellular proliferation 29434
      Neoplasms by Site 27577
        organ system cancer 23193
          nervous system cancer 4231
            neuroectodermal tumor 1270
              neuroendocrine tumor 320
                islet cell tumor 41
                  Islet Cell Tumor Syndrome 22
                  non-functioning pancreatic endocrine tumor + 3
                  pancreatic ACTH hormone producing tumor 0
                  pancreatic delta cell neoplasm + 0
                  pancreatic endocrine carcinoma + 14
                  pancreatic gastrinoma 0
                  pancreatic somatostatinoma 0
paths to the root