To complement the analyses, we evaluated genes cataloged in OMIM (downloaded 17 July 2013).44 Of 3,118 genes in OMIM, 74.4% were part of a SNP-gene local eQTL pair (q < 0.05). These include many genes related to immune and hematological abnormalities, muscular dystrophy (21 genes), and genes implicated in nervous system diseases. Examples include Alzheimer’s disease (APP and PSEN2), deafness (42 genes), amyotropic lateral sclerosis (15 genes), Charcot-Marie-Tooth disease (25 genes), epilepsies (21 genes), and candidate genes for schizophrenia (DISC1, DAOA, and RGS4). Of 517 genes implicated in Mendelian autism spectrum disorders57 or mental retardation,44,58,59 69.6% are part of a local eQTL SNP-gene pair. Of 3,294 genes with a copy number variant implicated in autism spectrum disorders,57 developmental delay,60 or a psychiatric disorder,61 72.4% are part of a local eQTL SNP-gene pair.
