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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
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Accession:DOID:3125 term browser browse the term
Definition:A syndrome that is characterized by tumors in at least two endocrine glands. (DO)
Synonyms:exact_synonym: Multiple endocrine neoplasia syndrome;   familial endocrine adenomatoses;   familial endocrine adenomatosis;   multiple endocrine adenomatoses;   multiple endocrine adenomatosis;   multiple endocrine adenopathies;   multiple endocrine adenopathy;   multiple endocrine neoplasia syndromes;   multiple endocrine neoplasms
 primary_id: MESH:D009377
 xref: MIM:PS131100
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
multiple endocrine neoplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdkn1b cyclin-dependent kinase inhibitor 1B susceptibility IAGP
ISO		 DNA, protein:frameshift mutation, decreased expression
ClinVar Annotator: match by term: Multiple endocrine neoplasia		 ClinVar
RGD		 PMID:28492532 PMID:17030811 PMID:12036912 PMID:17030811 RGD:2293616, RGD:619590, RGD:2293616 NCBI chr 4:169,491,273...169,496,500
Ensembl chr 4:167,760,181...167,764,982 		JBrowse link
G Cdkn1bwe cyclin-dependent kinase inhibitor 1B; white eye mutation IAGP RGD PMID:17030811 PMID:12036912 RGD:2293616, RGD:619590
G Ghrl ghrelin and obestatin prepropeptide IEP protein:increased expression:pancreas,serum: RGD PMID:26512025 RGD:12904888 NCBI chr 4:148,421,315...148,431,128
Ensembl chr 4:146,865,712...146,869,621 		JBrowse link
G Ghsr growth hormone secretagogue receptor IEP RGD PMID:26512025 RGD:12904888 NCBI chr 2:112,196,158...112,201,666
Ensembl chr 2:110,268,489...110,271,865 		JBrowse link
G Men1 menin 1 ISO ClinVar Annotator: match by term: Endocrine adenomatosis multiple | ClinVar Annotator: match by term: Multiple endocrine neoplasia ClinVar PMID:9103196 PMID:9215689 PMID:9215690 PMID:9354421 PMID:9407947 More... NCBI chr 1:213,068,166...213,074,132
Ensembl chr 1:203,639,000...203,644,871 		JBrowse link
G Ret ret proto-oncogene ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Multiple endocrine neoplasia		 CTD
ClinVar		 PMID:2639553 PMID:7581377 PMID:7647787 PMID:7704557 PMID:7881414 More... NCBI chr 4:152,998,344...153,040,556
Ensembl chr 4:151,326,431...151,368,176 		JBrowse link
familial medullary thyroid carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Insrr insulin receptor-related receptor ISO ClinVar Annotator: match by term: Familial medullary thyroid carcinoma ClinVar PMID:25741868 NCBI chr 2:175,553,244...175,572,676
Ensembl chr 2:173,255,414...173,274,800 		JBrowse link
G Ntrk1 neurotrophic receptor tyrosine kinase 1 ISO ClinVar Annotator: match by term: Familial medullary thyroid carcinoma | ClinVar Annotator: match by term: Thyroid cancer, familial medullary ClinVar PMID:10330344 PMID:10443680 PMID:10861667 PMID:11139246 PMID:11159935 More... NCBI chr 2:175,534,844...175,551,664
Ensembl chr 2:173,236,963...173,253,770 		JBrowse link
G Prlr prolactin receptor ISS OMIM:155240 MouseDO NCBI chr 2:60,861,391...61,051,883
Ensembl chr 2:59,134,588...59,324,718 		JBrowse link
G Ret ret proto-oncogene ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Familial medullary thyroid carcinoma | ClinVar Annotator: match by term: Thyroid cancer, familial medullary		 CTD
OMIM
ClinVar		 PMID:2660074 PMID:3078962 PMID:3697657 PMID:7536460 PMID:7595170 More... NCBI chr 4:152,998,344...153,040,556
Ensembl chr 4:151,326,431...151,368,176 		JBrowse link
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 8:62,724,939...62,829,040
Ensembl chr 8:53,831,093...53,932,437 		JBrowse link
G Bad BCL2-associated agonist of cell death ISO ClinVar Annotator: match by term: Multiple endocrine neoplasia, type 1 ClinVar PMID:215689 PMID:17065424 PMID:23321498 PMID:28492532 NCBI chr 1:213,562,719...213,572,034
Ensembl chr 1:204,131,501...204,142,823 		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 8:62,692,123...62,720,951
Ensembl chr 8:53,796,366...53,824,748 		JBrowse link
G Catsperz catsper channel auxiliary subunit zeta ISO ClinVar Annotator: match by term: Multiple endocrine neoplasia, type 1 ClinVar PMID:215689 PMID:17065424 PMID:23321498 PMID:28492532 NCBI chr 1:213,544,032...213,547,326 JBrowse link
G Ccdc88b coiled-coil domain containing 88B ISO ClinVar Annotator: match by term: Multiple endocrine neoplasia, type 1 ClinVar PMID:215689 PMID:17065424 PMID:23321498 PMID:28492532 NCBI chr 1:213,466,139...213,482,099
Ensembl chr 1:204,036,918...204,052,970 		JBrowse link
G Cdc73 cell division cycle 73 ISO ClinVar Annotator: match by term: Multiple endocrine neoplasia, type 1 ClinVar PMID:25741868 NCBI chr13:57,897,924...58,000,031
Ensembl chr13:55,357,226...55,449,656 		JBrowse link
G Cox8a cytochrome c oxidase subunit 8A ISO ClinVar Annotator: match by term: Multiple endocrine neoplasia, type 1 ClinVar PMID:215689 PMID:17065424 PMID:23321498 PMID:28492532 NCBI chr 1:213,831,302...213,833,623 JBrowse link
G Dnajc4 DnaJ heat shock protein family (Hsp40) member C4 ISO ClinVar Annotator: match by term: Multiple endocrine neoplasia, type 1 ClinVar PMID:215689 PMID:17065424 PMID:23321498 PMID:28492532 NCBI chr 1:213,607,397...213,611,614
Ensembl chr 1:204,178,191...204,182,387 		JBrowse link
G Esrra estrogen related receptor, alpha ISO ClinVar Annotator: match by term: Multiple endocrine neoplasia, type 1 ClinVar PMID:215689 PMID:17065424 PMID:23321498 PMID:28492532 NCBI chr 1:213,533,309...213,543,432
Ensembl chr 1:204,104,101...204,114,268 		JBrowse link
G Fermt3 FERM domain containing kindlin 3 ISO ClinVar Annotator: match by term: Multiple endocrine neoplasia, type 1 ClinVar PMID:215689 PMID:17065424 PMID:23321498 PMID:28492532 NCBI chr 1:213,618,691...213,636,889
Ensembl chr 1:204,189,484...204,207,587 		JBrowse link
G Fgf2 fibroblast growth factor 2 ISO protein:increased expression:plasma RGD PMID:8098714 RGD:2317763 NCBI chr 2:122,164,454...122,218,796
Ensembl chr 2:120,236,328...120,291,221 		JBrowse link
G Flrt1 fibronectin leucine rich transmembrane protein 1 ISO ClinVar Annotator: match by term: Multiple endocrine neoplasia, type 1 ClinVar PMID:215689 PMID:17065424 PMID:23321498 PMID:28492532 NCBI chr 1:213,704,983...213,782,958
Ensembl chr 1:204,275,367...204,353,750 		JBrowse link
G Gpr137 G protein-coupled receptor 137 ISO ClinVar Annotator: match by term: Multiple endocrine neoplasia, type 1 ClinVar PMID:215689 PMID:17065424 PMID:23321498 PMID:28492532 NCBI chr 1:213,558,846...213,562,422
Ensembl chr 1:204,129,636...204,133,082 		JBrowse link
G Kcnk4 potassium two pore domain channel subfamily K member 4 ISO ClinVar Annotator: match by term: Multiple endocrine neoplasia, type 1 ClinVar PMID:215689 PMID:17065424 PMID:23321498 PMID:28492532 NCBI chr 1:213,547,577...213,558,706
Ensembl chr 1:204,114,572...204,125,925 		JBrowse link
G Macrod1 mono-ADP ribosylhydrolase 1 ISO ClinVar Annotator: match by term: Multiple endocrine neoplasia, type 1 ClinVar PMID:215689 PMID:17065424 PMID:23321498 PMID:28492532 NCBI chr 1:204,246,238...204,387,027
Ensembl chr 1:204,246,166...204,389,716 		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:215689 PMID:9536098 PMID:9709921 PMID:10090472 PMID:12112656 More... NCBI chr 1:213,074,360...213,090,042
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:215689 PMID:564891 PMID:2857681 PMID:3313277 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 1:213,068,166...213,074,132
Ensembl chr 1:203,639,000...203,644,871 		JBrowse link
G Nrxn2 neurexin 2 ISO ClinVar Annotator: match by term: Multiple endocrine neoplasia, type 1 ClinVar PMID:215689 PMID:17065424 PMID:23321498 PMID:28492532 NCBI chr 1:213,155,673...213,271,526
Ensembl chr 1:203,735,753...203,842,297 		JBrowse link
G Nudt22 nudix hydrolase 22 ISO ClinVar Annotator: match by term: Multiple endocrine neoplasia, type 1 ClinVar PMID:215689 PMID:17065424 PMID:23321498 PMID:28492532 NCBI chr 1:204,182,797...204,186,421
Ensembl chr 1:204,182,802...204,186,280 		JBrowse link
G Otub1 OTU deubiquitinase, ubiquitin aldehyde binding 1 ISO ClinVar Annotator: match by term: Multiple endocrine neoplasia, type 1 ClinVar PMID:215689 PMID:17065424 PMID:23321498 PMID:28492532 NCBI chr 1:213,816,400...213,824,679
Ensembl chr 1:204,387,215...204,395,483 		JBrowse link
G Plcb3 phospholipase C beta 3 ISO ClinVar Annotator: match by term: Multiple endocrine neoplasia, type 1 ClinVar PMID:215689 PMID:17065424 PMID:23321498 PMID:28492532 NCBI chr 1:213,572,499...213,589,585
Ensembl chr 1:204,144,956...204,160,228 		JBrowse link
G Ppp1r14b protein phosphatase 1, regulatory (inhibitor) subunit 14B ISO ClinVar Annotator: match by term: Multiple endocrine neoplasia, type 1 ClinVar PMID:215689 PMID:17065424 PMID:23321498 PMID:28492532 NCBI chr 1:213,594,416...213,596,527
Ensembl chr 1:204,163,299...204,167,319
Ensembl chr12:204,163,299...204,167,319 		JBrowse link
G Prdx5 peroxiredoxin 5 ISO ClinVar Annotator: match by term: Multiple endocrine neoplasia, type 1 ClinVar PMID:215689 PMID:17065424 PMID:23321498 PMID:28492532 NCBI chr 1:213,529,042...213,532,787
Ensembl chr 1:204,099,826...204,114,268 		JBrowse link
G Pygm glycogen phosphorylase, muscle associated ISO ClinVar Annotator: match by term: Multiple endocrine neoplasia, type 1 ClinVar PMID:215689 PMID:17065424 PMID:23321498 PMID:28492532 NCBI chr 1:213,119,805...213,134,622
Ensembl chr 1:203,690,533...203,705,368 		JBrowse link
G Rasgrp2 RAS guanyl releasing protein 2 ISO ClinVar Annotator: match by term: Multiple endocrine neoplasia, type 1 ClinVar PMID:215689 PMID:17065424 PMID:23321498 PMID:28492532 NCBI chr 1:213,135,034...213,152,246
Ensembl chr 1:203,707,481...203,722,993 		JBrowse link
G Ret ret proto-oncogene ISO ClinVar Annotator: match by term: Wermer syndrome ClinVar PMID:2904651 PMID:3078962 PMID:7595171 PMID:7608256 PMID:7824936 More... NCBI chr 4:152,998,344...153,040,556
Ensembl chr 4:151,326,431...151,368,176 		JBrowse link
G Rps6ka4 ribosomal protein S6 kinase A4 ISO ClinVar Annotator: match by term: Multiple endocrine neoplasia, type 1 ClinVar PMID:215689 PMID:17065424 PMID:23321498 PMID:28492532 NCBI chr 1:213,451,026...213,461,982
Ensembl chr 1:204,021,806...204,032,761 		JBrowse link
G Sf1 splicing factor 1 ISO ClinVar Annotator: match by term: Multiple endocrine neoplasia, type 1 ClinVar PMID:215689 PMID:17065424 PMID:23321498 PMID:28492532 NCBI chr 1:213,090,256...213,112,688
Ensembl chr 1:203,670,018...203,684,330 		JBrowse link
G Slc22a12 solute carrier family 22 member 12 ISO ClinVar Annotator: match by term: Multiple endocrine neoplasia, type 1 ClinVar PMID:215689 PMID:17065424 PMID:23321498 PMID:28492532 NCBI chr 1:213,274,266...213,282,793
Ensembl chr 1:203,845,048...203,853,555 		JBrowse link
G Stip1 stress-induced phosphoprotein 1 ISO ClinVar Annotator: match by term: Multiple endocrine neoplasia, type 1 ClinVar PMID:215689 PMID:17065424 PMID:23321498 PMID:28492532 NCBI chr 1:213,638,641...213,657,654
Ensembl chr 1:204,178,932...204,228,476 		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 7:10,225,204...10,241,965
Ensembl chr 7:9,575,269...9,591,315 		JBrowse link
G Trmt112 tRNA methyltransferase activator subunit 11-2 ISO ClinVar Annotator: match by term: Multiple endocrine neoplasia, type 1 ClinVar PMID:215689 PMID:17065424 PMID:23321498 PMID:28492532 NCBI chr 1:204,103,298...204,104,151 JBrowse link
G Trpt1 tRNA phosphotransferase 1 ISO ClinVar Annotator: match by term: Multiple endocrine neoplasia, type 1 ClinVar PMID:215689 PMID:17065424 PMID:23321498 PMID:28492532 NCBI chr 1:213,615,503...213,620,502
Ensembl chr 1:204,186,295...204,191,294 		JBrowse link
G Vegfb vascular endothelial growth factor B ISO ClinVar Annotator: match by term: Multiple endocrine neoplasia, type 1 ClinVar PMID:215689 PMID:17065424 PMID:23321498 PMID:28492532 NCBI chr 1:213,601,570...213,607,254
Ensembl chr 1:204,172,225...204,177,944 		JBrowse link
multiple endocrine neoplasia type 2A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alk ALK receptor tyrosine kinase ISO ClinVar Annotator: match by term: Multiple endocrine neoplasia, type 2a
ClinVar Annotator: match by term: Multiple endocrine neoplasia type 2A		 ClinVar PMID:25741868 PMID:28492532 NCBI chr 6:28,631,431...29,351,321
Ensembl chr 6:22,880,625...23,598,034 		JBrowse link
G Kif1b kinesin family member 1B ISO ClinVar Annotator: match by term: Multiple endocrine neoplasia, type 2 ClinVar PMID:24694336 PMID:25741868 PMID:28492532 NCBI chr 5:164,890,778...165,025,848
Ensembl chr 5:159,561,271...159,742,778 		JBrowse link
G Ret ret proto-oncogene ISO DNA:mutation:cds (human)
ClinVar Annotator: match by term: MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA | ClinVar Annotator: match by term: MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA, WITHOUT PHEOCHROMOCYTOMA | ClinVar Annotator: match by term: Multiple endocrine neoplasia type 2A | ClinVar Annotator: match by term: Multiple endocrine neoplasia, type 2 | ClinVar Annotator: match by term: PTC syndrome | ClinVar Annotator: match by term: Pheochromocytoma and amyloid producing medullary thyroid carcinoma
ClinVar Annotator: match by term: MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA | ClinVar Annotator: match by term: MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA, WITHOUT PHEOCHROMOCYTOMA | ClinVar Annotator: match by term: Multiple endocrine neoplasia type 2A | ClinVar Annotator: match by term: Multiple endocrine neoplasia, type 2 | ClinVar Annotator: match by term: PTC syndrome | ClinVar Annotator: match by term: Sipple syndrome
ClinVar Annotator: match by term: MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA, WITHOUT PHEOCHROMOCYTOMA | ClinVar Annotator: match by term: Multiple endocrine neoplasia, type 2 | ClinVar Annotator: match by term: Multiple endocrine neoplasia, type 2a | ClinVar Annotator: match by term: PTC syndrome | ClinVar Annotator: match by term: Sipple syndrome
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD
RGD		 PMID:1704708 PMID:2008030 PMID:2639553 PMID:2660074 PMID:2904651 More... RGD:2324920 NCBI chr 4:152,998,344...153,040,556
Ensembl chr 4:151,326,431...151,368,176 		JBrowse link
G Sdha succinate dehydrogenase complex flavoprotein subunit A ISO ClinVar Annotator: match by term: Multiple endocrine neoplasia type 2A ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:30,764,553...30,789,523
Ensembl chr 1:28,940,164...28,961,535 		JBrowse link
multiple endocrine neoplasia type 2B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ret ret proto-oncogene ISO
ISS		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: MEN 2B | ClinVar Annotator: match by term: MUCOSAL NEUROMA SYNDROME | ClinVar Annotator: match by term: MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIB | ClinVar Annotator: match by term: Multiple endocrine neoplasia type 2B | ClinVar Annotator: match by term: Multiple endocrine neoplasia, type 3
OMIM:162300		 CTD
OMIM
ClinVar
MouseDO		 PMID:2008030 PMID:2639553 PMID:2660074 PMID:2904651 PMID:3078962 More... NCBI chr 4:152,998,344...153,040,556
Ensembl chr 4:151,326,431...151,368,176 		JBrowse link
multiple endocrine neoplasia type 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdkn1b cyclin-dependent kinase inhibitor 1B ISO ClinVar Annotator: match by term: Multiple endocrine neoplasia type 4
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:2694462 PMID:3328816 PMID:9536098 PMID:11986963 PMID:15026335 More... NCBI chr 4:169,491,273...169,496,500
Ensembl chr 4:167,760,181...167,764,982 		JBrowse link
G Gpr19 G protein-coupled receptor 19 ISO ClinVar Annotator: match by term: Multiple endocrine neoplasia type 4 ClinVar PMID:28492532 NCBI chr 4:169,442,278...169,468,805
Ensembl chr 4:167,710,666...167,741,036 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19139
    disease of cellular proliferation 7892
      Multiple Primary Neoplasms 282
        multiple endocrine neoplasia 46
          multiple endocrine neoplasia type 1 34
          multiple endocrine neoplasia type 2A + 7
          multiple endocrine neoplasia type 2B + 1
          multiple endocrine neoplasia type 4 2
Path 2
Term Annotations click to browse term
  disease 19139
    Developmental Disease 14674
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13724
        genetic disease 13391
          Hereditary Neoplastic Syndromes 1531
            multiple endocrine neoplasia 46
              multiple endocrine neoplasia type 1 34
              multiple endocrine neoplasia type 2A + 7
              multiple endocrine neoplasia type 2B + 1
              multiple endocrine neoplasia type 4 2
paths to the root