Additional file 4: Table S3. of Molecular dissection of germline chromothripsis in a developmental context using patient-derived iPS cells

Associations of genes located near the breakpoints with human and mouse disease phenotypes. Associations of the genes with human disease phenotypes were obtained from the MalaCards human disease database ( http://www.malacards.org/ ; only phenotypes with a score of more than 1 are included). Mouse embryonic expression data were retrieved from the Gene Expression Database (GXD) from Mouse Genome Informatics ( http://www.informatics.jax.org/expression.shtml ) and the eMouseAtlas ( http://www.emouseatlas.org/ ). Phenotypes of homozygous mouse knockouts were obtained from Mouse Genome Informatics ( http://www.informatics.jax.org/ ). Data were not available for all genes. (XLSX 23Â kb)