Annotation Detail
Information
- Associated Genes
- MEN1
- Associated Variants
-
MEN1 MUTATION
MEN1 MUTATION - Associated Disease
- multiple endocrine neoplasia type 1
- Source Database
- DisGeNET
- Description
- Germline mutations in MEN1 (encoding menin) result in multiple endocrine neoplasia type 1 and are found in very young patients with isolated sporadic pituitary adenomas, which highlights the importance of the chromosome 11q13 locus in pituitary tumorigenesis.
- Pubmed
- 25350067
- Section of the abstract supporting the evidence
- ALL_TEXT_3/3
- Number of the section of the abstract supporting the evidence
- 3
- Number of the sentence supporting the evidence
- 7
- Original source reporting the Gene Disease association
- BeFree,CLINVAR,CTD_human,GAD,LHGDN,MGD,ORPHANET,UNIPROT
- DisGENET score for the Gene Disease association
- 0.687063011914947
Drugs