Data Mining: Applying the AD&FTD Mutation Database to Progranulin.

The online AD&FTD Mutation Database ( http://www.molgen.vib-ua.be/FTDmutations ) was conceived to meet the needs of a comprehensive knowledge base of genetic variations in genes associated with monogenic forms of Alzheimer's disease (AD) and frontotemporal dementia (FTD). Today, the AD&FTD Mutation Database provides curated, referenced information of 764 genetic variants in APP, PSEN1, and PSEN2 associated with AD and GRN, C9orf72, TBK1, MAPT, VCP, CHMP2B, TARDBP, and FUS associated with FTD and related diseases. In addition, the database stores demographic and clinicogenetic data of 1646 dementia families associated with these mutations. In FTD, the granulin (GRN) gene has the highest number of different mutations (79/231 = 34%) and the second highest number of associated FTD families after C9orf72. In addition to the detailed mutation and patient information, summary reports in tabular and graphical formats can be consulted. Further, all variants can be uploaded to the human genome browser for custom-designed analyses.