Difference between revisions of "Tay-Sachs Disease 2011"
From Bioinformatikpedia
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| + | == Summary == |
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| + | The example disease causes the example syndrome. |
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== Phenotype == |
== Phenotype == |
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Phenotypic description of the disease. |
Phenotypic description of the disease. |
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* specific link to OMIM |
* specific link to OMIM |
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... (see [[Resource data|databases in "resources"]]) |
... (see [[Resource data|databases in "resources"]]) |
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| + | == Biochemical disease mechanism == |
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| + | The example protein is involved in the example pathway... |
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| + | Ideally, include a graphical pathway representation like this one: [[Image:SphingolipidMetabolism.png|frame|Sphingolipid Metabolism (source: KEGG) highlighting disease associated enzymes]] |
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| + | (see above: own words, no plagiarism) |
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| + | <br style="clear: both" /> |
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| + | === Cross-references === |
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| + | * link to KEGG |
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| + | * link to MetaCyc |
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| + | ... see [[Resource data|databases in "resources"]] |
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| + | == Mutations == |
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| + | Current knowledge about mutations associated with the disease. - Separate into disease causing and neutral mutations. |
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| + | === Reference sequence === |
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| + | Which sequence does not cause the disease and is most often found in the population. |
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| + | * [[example_sequence|Create a page for the reference sequence.]] -- These sequence pages will be the starting point for collecting prediction results and result discussions. |
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| + | === Neutral mutations === |
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| + | * [[example_sequence|Create one page per mutated sequence]]. |
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| + | |||
| + | === Disease causing mutations === |
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| + | * [[example_sequence|Create one page per mutated sequence]]. |
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Revision as of 16:23, 12 May 2011
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.
