Annotation Detail
Information
- Associated Genes
- ITM2B
- Associated Variants
-
ITM2B MUTATION
ITM2B MUTATION - Associated Disease
- Dementia, familial British
- Source Database
- DisGeNET
- Description
- Post-translational processing of wild type BRI2 and FBD-BRI2 result in the production of a 23-residue long Bri peptide and a 34-amino acid long ABri peptide, respectively, and ABri is found deposited in the brains of individuals with FBD.
- Pubmed
- 25957407
- Section of the abstract supporting the evidence
- ALL_TEXT_1/3
- Number of the section of the abstract supporting the evidence
- 1
- Number of the sentence supporting the evidence
- 2
- Original source reporting the Gene Disease association
- BeFree,CLINVAR,CTD_human,MGD,ORPHANET
- DisGENET score for the Gene Disease association
- 0.442985860592883
Drugs