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Fig. 1 | Genome Medicine

Fig. 1

From: Enhanced rare disease mapping for phenome-wide genetic association in the UK Biobank

Fig. 1

Rare diseases in the UK Biobank. a Density plot of the 420 rare diseases we identified in the UK Biobank by mapping ICD-10 codes to ORPHA codes. The x-axis shows the log10 number of individuals recorded as having each disease, while the y-axis shows the density of diseases with that number of individuals. The red dashed line indicates the (fewer than 1 in 2000) prevalence criterion for rare diseases in Europe. b Scatter plot comparing the prevalence of rare diseases in the UK Biobank and the Optum dataset. Each point represents a rare disease, and the dotted red line represents the linear regression between the prevalence in Optum and the UK Biobank. c The groups of rare diseases identified in the UK Biobank are shown as a bar plot, with the y-axis indicating the number of diseases in each group. Overlaid is a second bar plot (in red), with the y-axis indicating the number of individuals who have at least one disease in each group. d Hexagon/scatter plot showing the mean age at recruitment and proportion of males for each disease. The x-axis shows the percentage of males recorded as having each disease and the y-axis shows the mean age at recruitment. The hexagons show the density of diseases at each mean age and sex proportion, while the asterisks indicate the actual values for a particular disease. The red dashed line shows the overall mean age and sex proportion in the UK Biobank. e Box/scatter plot of comorbidities for rare diseases. The y-axis shows, for each rare disease, the percentage of individuals who have at least one comorbidity in each group (excluding the rare disease itself)

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