In collaboration with colleagues we have created SysID (https://sysid.cmbi.umcn.nl/), an expert-curated, publicly accessible database of published NDD associated genes.
The list is regularly updated and the database contains additional information such as inheritance modes, associated phenotypes in standardised language and information on the known biological function of the gene products (Kochinke K and Zweier C et al. 2016). The database has many diagnostic and research applications (e.g. Popp et al. 2017).