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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:multiple endocrine neoplasia type 1
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Accession:DOID:10017 term browser browse the term
Definition:A multiple endocrine neoplasia that has_material_basis_in a mutation in the MEN1 tumor suppressor gene and is characterized by over active endocrine glands frequently involving tumors of the parathyroid glands, the pituitary gland, and the pancreas. (DO)
Synonyms:exact_synonym: MEA 1;   MEA I;   MEN 1;   MEN I;   MEN type I;   MEN1;   MEN1-RELATED CONDITION;   Wermer syndrome;   Wermer's syndrome;   multiple endocrine neoplasia type I;   multiple endocrine neoplasms type 1;   multiple endocrine neoplasms type I
 narrow_synonym: Wermer syndrome MEN1 somatic mutations
 primary_id: MESH:D018761
 alt_id: OMIM:131100
 xref: GARD:3829;   ICD10CM:E31.21;   ICD9CM:258.01;   NCI:C3225;   ORDO:652
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
multiple endocrine neoplasia type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atm ATM serine/threonine kinase ISO ClinVar Annotator: match by term: Multiple endocrine neoplasia, type 1 ClinVar PMID:25741868 NCBI chr 8:53,828,741...53,932,773
Ensembl chr 8:53,831,093...53,932,437 		JBrowse link
G C8h11orf65 similar to human chromosome 11 open reading frame 65 ISO ClinVar Annotator: match by term: Multiple endocrine neoplasia, type 1 ClinVar PMID:25741868 NCBI chr 8:53,796,033...53,825,277
Ensembl chr 8:53,796,366...53,824,748 		JBrowse link
G Cdc73 cell division cycle 73 ISO ClinVar Annotator: match by term: Multiple endocrine neoplasia, type 1 ClinVar PMID:25741868 NCBI chr13:55,357,226...55,449,690
Ensembl chr13:55,357,226...55,449,656 		JBrowse link
G Fgf2 fibroblast growth factor 2 ISO protein:increased expression:plasma RGD PMID:8098714 RGD:2317763 NCBI chr 2:120,236,328...120,290,673
Ensembl chr 2:120,236,328...120,291,221 		JBrowse link
G Map4k2 mitogen activated protein kinase kinase kinase kinase 2 ISO ClinVar Annotator: match by term: Multiple endocrine neoplasia, type 1 ClinVar PMID:25741868 NCBI chr 1:203,645,098...203,660,782
Ensembl chr 1:203,645,153...203,660,331 		JBrowse link
G Men1 menin 1 no_association
disease_progression		 ISO
IDA
ISS		 DNA:mutations:multiple sites:
DNA:mutations, polymorphism:exons
associated with Pituitary Neoplasm; DNA:mutations: :multiple
DNA:deletions:exons
DNA:deletion:exons
DNA, protein:mutations, loss of heterozygosity, decreased expression: :
CTD Direct Evidence: marker/mechanism
OMIM:131100
ClinVar Annotator: match by term: MEN1-related condition | ClinVar Annotator: match by term: Multiple endocrine neoplasia, type 1		 OMIM
CTD
MouseDO
ClinVar
RGD		 PMID:103196 PMID:564891 PMID:2857681 PMID:6108714 PMID:6837595 More... RGD:2317347, RGD:1601327, RGD:1601326, RGD:2317327, RGD:2317303, RGD:2317313, RGD:2317331, RGD:619590, RGD:2317293, RGD:2317314, RGD:2317334, RGD:2317335, RGD:1581203 NCBI chr 1:203,638,905...203,644,871
Ensembl chr 1:203,639,000...203,644,871 		JBrowse link
G Ret ret proto-oncogene ISO ClinVar Annotator: match by term: Multiple endocrine neoplasia, type 1 | ClinVar Annotator: match by term: Wermer syndrome ClinVar PMID:2008030 PMID:2660074 PMID:2904651 PMID:3078962 PMID:7536460 More... NCBI chr 4:151,325,969...151,368,176
Ensembl chr 4:151,326,431...151,368,176 		JBrowse link
G Stk11 serine/threonine kinase 11 ISO ClinVar Annotator: match by term: Multiple endocrine neoplasia, type 1 ClinVar PMID:25741868 PMID:28492532 PMID:30287823 NCBI chr 7:9,574,553...9,591,315
Ensembl chr 7:9,575,269...9,591,315 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    syndrome 10889
      Hereditary Neoplastic Syndromes 1284
        multiple endocrine neoplasia 20
          multiple endocrine neoplasia type 1 8
Path 2
Term Annotations click to browse term
  disease 18969
    Developmental Disease 14401
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13418
        genetic disease 13036
          monogenic disease 10421
            autosomal genetic disease 9578
              autosomal dominant disease 6311
                multiple endocrine neoplasia type 1 8
paths to the root