CMG Phenotypes and Genes

This table shows phenotypes studied by the Centers for Mendelian Genetics. OMIM IDs are listed where matches have been identified, as are associated genes that have met our most strict critera. Mutations in these genes: a) have been identified in multiple kindreds; or b) are included in a genome-wide significant linkage analysis peak and there must be experimental proof both that the mutation(s) perturb protein function and that the protein plays a role in an affected pathway; or c) the phenotype has been recapitulated in a model organism.

This table can be sorted by clicking on the column headers.

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