OMIM

Online Mendelian Inheritance in Man® (OMIM) is a comprehensive catalogue of human genes and genetic conditions and traits, with particular focus on the molecular relationship between genetic variation and phenotypic expression.

Curated at John Hopkins University, OMIM has data on over 12000 genes and 5000 phenotypes, and provides a powerful resource for mining genotype-phenotype relationships, for target identification, personalized medicine and pharmacogenomics. Use cases for OMIM data include early discovery projects, to search for novel mechanisms and protein targets for disease areas; and in clinical projects to look at patient stratification, or diagnostic gene variant annotations.

Read more on our blog: Synergy of OMIM and PubMed in Understanding Gene-Disease Associations for Synapse Proteins