Tay-Sachs Disease 2011
From Bioinformatikpedia
Contents
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.
Reference sequence
Which sequence does not cause the disease and is most often found in the population.
- Create a page for the reference sequence. -- These sequence pages will be the starting point for collecting prediction results and result discussions.
