The NIGMS Repository hosts samples that are derived from individuals with a wide variety of diseases and gene mutations. See below for categorical breakdowns of catalog-available specimens based on biomedically relevant classifications.
Gene Mutation
View list of OMIM genes and corresponding NIGMS samples with characterized mutations in the associated gene.
Dysmorphology
View list of dysmorphologies and corresponding NIGMS samples with associated aberrations.
Phenotypic Overview
View list of selected diseases with corresponding NIGMS samples with extended clinical
documentation.
Enzyme
View list of enzymes and corresponding NIGMS samples with affected enzyme activity.
Pathway
View specific cellular pathways and corresponding NIGMS samples with characterized
mutations in implicated pathway components.
