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Introduction to NCBI Bioinformatics Resources: MedGen

A concise introduction to the various bioinformatic data available from NCBI.



Organizes information related to human medical genetics, such as attributes of conditions with a genetic contribution. (from website).

The MedGen website can be reached at

The example shown will find medical information about problems in the LCT gene.

NCBI provides an MedGen tutorial at

Start by searching for LCT in MedGen:


The page returned shows various types of medical data:


By selecting the first entry, we see various literature about the clinical findings for LCT mutations:


The 2nd entry returns more detailed information about the gene, including the mode of inheritance, gene location, description of mutation, and other clinical information:

Looking further down the page, we see literature on therapy and diagnosis: