CCSB - Edgotyping data - Interaction profiles (positive and negative interactions) of disease and non-disease alleles.

Here we functionally profile several thousand missense mutations across a spectrum of Mendelian disorders using various interaction assays. Different mutations in the same gene leading to different interaction profiles often result in distinct disease phenotypes. Thus disease-associated alleles that perturb distinct protein activities rather than grossly affecting folding and stability are relatively widespread.