Example/Template

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Revision as of 14:09, 26 April 2011 by Andrea (talk | contribs) (Mutations)

Summary

The example disease causes the example syndrome.

Phenotype

Phenotypic description of the disease.

(Describe this in your own words, avoid plagiarism. Summarise the information from different sources.)

Cross-references

See also description of this disease in

  • specific link to Wikipedia
  • specific link to HGMD
  • specific link to OMIM

... (see databases in "resources")

Biochemical disease mechanism

The example protein is involved in the example pathway...

Ideally, include a graphical pathway representation.

(see above: own words, no plagiarism)


Cross-references

  • link to KEGG
  • link to MetaCyc

... see databases in "resources"

Mutations

Current knowledge about mutations associated with the disease. - Separate into disease causing and neutral mutations.

Reference sequence

Which sequence does not cause the disease and is most often found in the population.

Neutral mutations

Disease causing mutations