Available Samples by Biological Function

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.

  • Disease
    View list of OMIM diseases and corresponding NIGMS samples from individuals
    diagnosed with the associated disease.
  • 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.