Figure 2.
Approximate number of novel genes discovered to be associated with an NDD (stacked bar) and Mendelian disease (blue line) per year (primary Y-axis) and cumulatively (secondary Y-axis and yellow and green curved line graph). For NDD, the genes were separately counted for autosomal dominant (NDD-AD), autosomal recessive (NDD-AR) and X-linked (NDD-X) disease genes. Estimation was made by counting the number of genes deposited in the Human Gene Mutation Database (HGMD) for the first time for each year. Only the disease-causing mutations (DM) were considered. (A) Number of autosomal dominant (AD), autosomal recessive (AR) and X-linked genes for NDD and all Mendelian disease genes cumulatively.