Predicted disease genes.

The gene name is the official HUGO name where available, or the Ensembl ID. The third column summarizes the available information about the association of candidates with the disease. In particular, genes annotated with A have to our knowledge not been associated to the disease or to similar phenotypes, genes annotated with B are involved in MIM phenotypes with phenomap scores of 0.4 or higher, genes annotated with C have been associated to similar phenotypes, but display a phenomap score lower than 0.4. Moreover, genes annotated with # represent the actual disease gene, because mutations have been found in patients (but the association with the disease is not reported by Ensembl, version 45); genes annotated with * have been excluded on clinical basis; genes annotated with $ can be excluded because mutations have been found in a different gene; genes annotated % are at the moment excluded because they have been screened but mutations have not been found. In all cases labeled by special characters we also provide a reference to the corresponding supporting evidence. More details are available in Supporting Information Text S4.