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NCBI Resources: Phenotypes

Contains information about the NCBI databases to be used as a teaching tool.

Phenotypes

The Phenotypes section links to variation databases that have information about the phenotypic consequences of alterations in this gene.

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Genetic Testing Registry

The Genetic Testing Registry (GTR) contains information about genetic tests you can run to look for alterations in your gene of interest. 

You can search by:

  • Free Text
  • Select a Condition
  • Test Type (Ex: clinical)
  • Test Purpose (Ex: Diagnosis or Drug Response)
  • Test Method (Ex:targeted or whole gene variant analysis)
  • Test services (Ex: carrier or prenatal)
  • Lab certification (Ex: CLIA)
  • Lab Location

All of the information is provided by the test provider and not curated by NCBI, so make sure to verify the information before ordering the test. 

PheGenI

PheGenI (Phenotype-genotype integrator) aggregates data about the relationship between genetic variation and clinical phenotypes. It contains dat both from the NHGRI GWAS catalog and NCBI. Clicking the link from Gene to PheGenI automaticalyl runs a search for your gene of interest in PheGenI. 

See our PheGenI tutorial for more information.

Associated Conditions

The Associated conditions section contains links to information about conditions that are associated with your gene of interest. 

GTR, as discussed above, contains information about genetics test (right link), but it also gives summaries of the conditions themselves (left link). 

This sections also links to clinical genetic resources like MedGen, OMIM, and GeneReviews

See our Variation Databases Guide for more information on these resources.

NHGRI GWAS Catalog

This section contains links to studies the the National Human Genome Research Institute (NHGRI) Genome Wide Association Studies (GWAS) Catalog and PubMed.