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Mapping Gene Associations in Human Mitochondria using Clinical Disease Phenotypes

Figure 1

Distribution of clinical phenotypic features in mitochondrial diseases.

(A) The inner circle shows the distribution of 502 phenotypic features among fourteen clinical categories (CC), plus a ‘Miscellaneous’ category containing unassigned features. The numbers show the fraction in % of all features in one CC compared to all 502 features. The outer circle shows the distribution of features related to CC within the 9,407 gene-feature pairs, with the frequency in % of all features in one CC. (B) Number of genes with features in a specific CC (y-axis) in correlation to the average number of CC-specific features caused by these genes (x-axis). 154 genes caused neurological features with an average of 20.2 neurological features per gene. Phenotypically, most mitochondrial gene defects are related to neurological, metabolic and gastrointestinal diseases.

Figure 1