Fig. 6
OMIM analysis of spatial eQTL-eGene interactions. a A total of 62% of the spatial eGenes we identified are associated with human disease in the OMIM database (retrieved, 11/08/2017, Supplementary Data 6). b A total of 98.2% of gene-phenotype associations of the identified spatial eGenes are based on known mutations in the genes. OMIM mapping methods are: (1) gene has unknown underlying defect but is associated with the disorder; (2) disorder is mapped to gene based on linkage but mutation in gene has not been found; (3) a mutation in the gene has been identified as the basis of the mapped disorder; and (4) disorder is caused by deletion or duplication of contiguous genes. Mapped gene proportions were calculated as the number of genes mapped to at least one phenotype in the OMIM data (annotated in graph) divided by the total number of genes in the OMIM data (16,313 for OMIM genes) or the number of spatial eGenes annotated in the OMIM data (5069 for eGenes)
