Example/Template

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 like this one:

Sphingolipid Metabolism (source: KEGG) highlighting disease associated enzymes

(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. -- These sequence pages will be the starting point for collecting prediction results and result discussions.

Note: Until further notice you only need to care about the reference sequence pages. -- At a later stage we will assign mutations we expect you to work on. Then, it will make sense to create on page per mutation that is assigned to you.

Reference sequence

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

• Create a page for the reference sequence.

Neutral mutations

• Create one page per mutated sequence.

Disease causing mutations

• Create one page per mutated sequence.