Mitochondria Phenome Knowledgebase

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Click Groups for a Gene or Disease (Phenotypic Feature) Combination search.


MitoPhenome is a publicly available internet tool by Stanford University. Its aim is to aid clinicians and researchers in understanding how genetic variation among individuals contributes to clinical disease phenotypes and traits. MitoPhenome’s focus is on disorders associated with genes involved in the function and biogenesis of mitochondria, and in particular mitochondrial disease genes encoded by the nuclear genome. The clinical disease phenotypes for each gene are manually annotated [Figure, JPG, 62KB] from PubMed full-text articles and classified based on the hierarchical MeSH ontology. MitoPhenome’s format allows for easy navigation between disease and gene information.

We welcome submissions of primary data from all research into genes and genetic variation and their effects on clinical disease phenotypes. Please contact us if you would like to submit data.

In citing MitoPhenome please refer to: Scharfe C, Lu HH, Neuenburg J, Allen EA, Li GC, Klopstock T, Cowan T, Enns GM, Davis RW. Mapping Gene Associations in Human Mitochondria using Clinical Disease Phenotypes. PLoS Comput Biol 5(4): e1000374. 2009 [Article]

We would like to thank Ed Allen, Monika Trebo, Curt Palm and Mark Carranza for helping create MitoPhenome, and the East Bay Ruby Meetup and Joel Dudley for ideas, inspirations and technology assistance. We used these technologies: Ruby, Rails, Apache, MySQL, Passenger, and Textmate by MacroMates.

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