Difference between revisions of "Fabry Disease 2011"

From Bioinformatikpedia
(New page: == Summary == == Phenotype == == Biochemical disease mechanism ==)
 
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== Phenotype ==
 
== Phenotype ==
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=== Cross-references ===
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See also description of this disease in
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* specific link to Wikipedia
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* specific link to HGMD
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* specific link to OMIM
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... (see [[Resource data|databases in "resources"]])
   
 
== Biochemical disease mechanism ==
 
== Biochemical disease mechanism ==
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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. -- These sequence pages will be the starting point for collecting prediction results and result discussions.
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'''Note:''' Currently (13.5.) 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.
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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.]]
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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]].

Revision as of 18:22, 14 May 2011

Summary

Phenotype

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

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: Currently (13.5.) 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.

Neutral mutations

Disease causing mutations