Example/Template

Summary

The example disease causes the example syndrome.

Phenotype

Phenotypic description of the disease. See also

• link to Wikipedia
• link to HGMD
• link to Omim

...

Biochemical disease mechanism

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

See also

• link to KEGG
• link to BioCyc

...

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. -

• Create a page for the reference sequence.

Neutral mutations

• Create one page per mutated sequence.

Disease causing mutations

• Create one page per mutated sequence.