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Table 3.

Number of disease genes in each category of MutationView (1 December 2006)

Disease category No. genes Typical diseases
Eye 108 RP, glaucoma, corneal dystrophy
Ear  56 Deafness
Heart  37 Cardiomyopathy, heart dysmorphism
Muscle  35 DMD/BMD, MD Fukuyama type
Bone  45 Craniometaphyseal Dysplasia
Brain/Neuron  74 Familial Parkinsonism, Alzheimer's disease
Cancer‐related  42 Breast, retinoblastoma
Blood  45 CML, citrullinemia
Kidney  20 Bartter syndrome

The number of diseases does not necessarily match with the number of genes because it is known that some diseases with different clinical symptoms are caused by different mutation types in the same gene and that other diseases with the same clinical phenotype are caused by different genes. BMD, Becker muscular dystrophy; CML, chronic myeloblastic leukenia; DMD, Duchenne muscular dystrophy; MD, muscular dystrophy; RP, retinitis pigmentosum.