NCBI MedGen

Open https://www.ncbi.nlm.nih.gov/medgen/

in another browser window to work through this tutorial side by side.

MedGen collects information about diseases and conditions with a genetic contribution. It provides information on phenotypes and vocabulary and links to a wide range of related information.

If you have a list of clinical features (symptoms or complaints), start in MedGen.

Locating Genetic Information for a Clinical Symptom or Feature

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Try searching MedGen for:

dyskinesia

Look through your results summary.

Results in MedGen can include:

  • Sign or Symptom
  • Disease or Syndromes
  • Finding

among others like Neoplastic Process, Laboratory Result, and Body System. Each concept is labeled as such.

If we want to narrow our search to find diseases or disorders that include dyskinesia as a clinical feature, we could use the shortcut at the top of our results:

See MedGen results

Follow that link, now.

Locating Genetic Information for a Clinical Symptom or Feature

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The results are those records where dyskinesia is listed as a clinical feature.

We could also search by multiple features at once.

For example, add:

ataxia dystonia

to the search box and search.

dyskinesia[Clinical Features] ataxia dystonia

Locating Genetic Information for a Clinical Symptom or Feature

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Click on GLUT1 deficiency syndrome 2 to view that record.

GLUT1 deficiency syndrome 2

Locating Genetic Information for a Clinical Symptom or Feature

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The first part of the record includes the concept ID from the Unified Medical Language System (UMLS).

UMLS concept ID

The UMLS allows developers to connect a medical concept throughout different information systems because it links hundreds of medical vocabularies together using these Concept IDs.

Below the unique identifiers, MedGen shows synonyms for the concept, modes of inheritance, link(s) to the Gene database, and links to the Monarch Initiative and OMIM. 

Locating Genetic Information for a Clinical Symptom or Feature

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You will see a definition and descriptions of the disease from a different sources, which may include:

GeneReviews: A point-of-care reference that provides diagnosis, testing and management information on genetic conditions for clinicians.

OMIM: Overviews on the relationship between phenotype and genotype, for physicians, researchers and students.

Genetics Home Reference (GHR): An easy-to-read but in-depth guide on genetics and disease for consumers.

Depending on your audience you may want to follow the links to read more from each resource.

Locating Genetic Information for a Clinical Symptom or Feature

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Below the descriptions are the Clinical Features, which we searched when limiting to dyskinesia as a clinical feature. Expand the categories to see each feature. Click the link to see a definition.

 Clinical features

 

Locating Genetic Information for a Clinical Symptom or Feature

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The Term Hierarchy shows conceptual hierarchies in major vocabularies, but also links to relevant genetic testing information from the Genetic Testing Reference (GTR) and genetic variation information from ClinVar (more on both of these resources to come).

term hierarchy

Locating Genetic Information for a Clinical Symptom or Feature

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The Recent clinical studies section consists of journal literature citations selected from the PubMed Clinical Queries to provide current, relevant information on this genetic condition. There are sections on Etiology, Diagnosis, Therapy, Prognosis, Clinical prediction guides and Recent Systematic Reviews.

recent clinical studies

 

Conclusion

You have reached the end of the tutorial for NCBI MedGen.

Continue to Chapter 6. Genetic Testing Registry (GTR)

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