Table 1. Mutation data in the KMDB/MutationView.

Category	Number of diseases	Number of genes	Number of mutation entries	Number of literature references compiled
Eye	24	23a	385	112
Heart	7	7	79	19
Ear	3	11a	49	21
Brain/nerve	10	11a	227	77
Cancer-related	8	8	1303	164
Syndrome	15	17a	855	159
Autoimmunity	2	2	96	13
Muscle	3	3	42	15
Blood	4	4	13	7
Miscellaneous	11	11	43	19
Total	87	97	3092	606

^aThe number of diseases does not necessarily match with the number of genes because it has been known that some diseases with different clinical symptoms are caused by different mutation types in the same gene and other diseases with a common clinical phenotype are caused by multiple different genes involved in a certain physiological pathway.