Table 3.
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.