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: pancreatic endocrine carcinoma
Accession: DOID:1798
browse the term
Definition: An islet cell tumor that has_material_basis_in epithelial cells. (DO)
Synonyms: exact_synonym: Islet Cell Carcinoma; Islet Cell Tumor, Malignant; carcinoma of endocrine pancreas; islet cell carcinomas; malignant neoplasm of islets of Langerhans; pancreatic neuroendocrine carcinoma
narrow_synonym: METASTATIC PANCREATIC NEUROENDOCRINE TUMORS; neuroendocrine tumor of pancreas
primary_id: MESH:D018273
xref: EFO:0007416 ; EFO:0009140 ; GARD:13034 ; ICD9CM:157.4 ; NCI:C3770
For additional species annotation, visit the
Alliance of Genome Resources .
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Brca2
breast cancer 2, early onset
ISO
ClinVar Annotator: match by term: Neuroendocrine tumor of pancreas
ClinVar
PMID:15145354 PMID:22762150 PMID:25741868 PMID:29446198
NCBI chr 5:150,445,759...150,493,612
Ensembl chr 5:150,446,095...150,493,794
G
Cux1
cut-like homeobox 1
exacerbates
ISO
protein:increased expression:pancreas (human)
RGD
PMID:32707646
RGD:153297777
NCBI chr 5:136,276,989...136,596,429
Ensembl chr 5:136,276,989...136,596,344
G
Daxx
Fas death domain-associated protein
disease_progression
ISO
DNA:frameshift, frameshift mutations, nonsense mutation, missense mutations:CDS:multiple (human)
RGD
PMID:29212165
RGD:152025205
NCBI chr17:34,128,379...34,134,564
Ensembl chr17:34,128,388...34,134,564
G
Mgmt
O-6-methylguanine-DNA methyltransferase
ISO
DNA:hypermethylation:promoter (human)
RGD
PMID:14501508
RGD:2317661
NCBI chr 7:136,496,315...136,732,001
Ensembl chr 7:136,496,343...136,731,995
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 PMID:25741868 PMID:28492532 PMID:28724667 More...
NCBI chr 7:121,706,485...121,732,203
Ensembl chr 7:121,706,485...121,732,208
G
Pgf
placental growth factor
disease_progression treatment
ISO IMP
protein:increased expression:serum (human) human cells in a mouse model
RGD
PMID:23463017 PMID:26861455
RGD:14349029 , RGD:14349030
NCBI chr12:85,213,413...85,224,087
Ensembl chr12:85,213,409...85,224,564
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Men1
multiple endocrine neoplasia 1
ISO
associated with Neuroendocrine Tumors; DNA:loss of heterozygosity: :
RGD
PMID:17135306
RGD:2317341
NCBI chr19:6,385,009...6,390,924
Ensembl chr19:6,385,009...6,390,921
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Igf1r
insulin-like growth factor I receptor
ISO
mRNA and protein: increased expression::poor prognosis for high expression
RGD
PMID:15867218
RGD:7242847
NCBI chr 7:67,601,486...67,883,416
Ensembl chr 7:67,602,575...67,883,416
G
Men1
multiple endocrine neoplasia 1
ISO
DNA:mutations: : CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:17961653 PMID:15944766
RGD:2317354
NCBI chr19:6,385,009...6,390,924
Ensembl chr19:6,385,009...6,390,921
G
Met
met proto-oncogene
severity
ISO
associated with Zollinger-Ellison Syndrome; mRNA:increased expression:tumor (human)
RGD
PMID:12114431
RGD:2317605
NCBI chr 6:17,463,351...17,573,979
Ensembl chr 6:17,463,799...17,573,979
G
Mgmt
O-6-methylguanine-DNA methyltransferase
ISO
DNA:hypomethylation:promoter (human)
RGD
PMID:17278096
RGD:2317340
NCBI chr 7:136,496,315...136,732,001
Ensembl chr 7:136,496,343...136,731,995
G
Slc2a2
solute carrier family 2 (facilitated glucose transporter), member 2
ISO
mRNA:decreased expression:pancreatic islet
RGD
PMID:8421107 PMID:12114701
RGD:2324977 , RGD:2324976
NCBI chr 3:28,752,052...28,782,510
Ensembl chr 3:28,752,052...28,785,508
Symbol
Object Name
Qualifiers
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Btc
betacellulin, epidermal growth factor family member
ISO
protein:increased expression:pancreas
RGD
PMID:10724350
RGD:2326087
NCBI chr 5:91,505,120...91,550,853
Ensembl chr 5:91,505,120...91,550,853
G
Men1
multiple endocrine neoplasia 1
IMP ISO
DNA:deletion:exon CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:17961653 PMID:20138042
RGD:2317288
NCBI chr19:6,385,009...6,390,924
Ensembl chr19:6,385,009...6,390,921
G
Slc2a2
solute carrier family 2 (facilitated glucose transporter), member 2
ISO
mRNA:decreased expression:pancreatic islet
RGD
PMID:12114701 PMID:8421107
RGD:2324976 , RGD:2324977
NCBI chr 3:28,752,052...28,782,510
Ensembl chr 3:28,752,052...28,785,508
G
Sstr4
somatostatin receptor 4
ISO
RGD
PMID:8132773
RGD:2324994
NCBI chr 2:148,237,297...148,238,684
Ensembl chr 2:148,237,264...148,238,687
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 4:88,768,324...88,768,893
Ensembl chr 4:88,768,324...88,768,893
G
Men1
multiple endocrine neoplasia 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17961653
NCBI chr19:6,385,009...6,390,924
Ensembl chr19:6,385,009...6,390,921
G
Sst
somatostatin
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:2868874
NCBI chr16:23,708,327...23,710,041
Ensembl chr16:23,708,323...23,709,708
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