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How many human diseases are caused by genetic mutations or chromosomal aberrations?

April 26, 2017ABERRATIONS caused chromosomal diseases genetic Human mutations

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How many human diseases are caused by genetic mutations or chromosomal aberrations?

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We do not have a specific statistic for this. Because the scope of OMIM is limited to disorders inherited in a Mendelian manner, the number of records in the database does not represent the number of human diseases that are caused by mutations, or by chromosomal aberrations. In addition, not all OMIM records are associated with a phenotype (i.e., a genetic disease). Some records describe human genes for which phenotypic information is not available.