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Fig. 2 | Orphanet Journal of Rare Diseases

Fig. 2

From: Genome sequencing and implications for rare disorders

Fig. 2

Disease genes can be associated with more than one Mendelian condition. Review of genes associated with disease phenotypes in OMIM (January 2019) reveal that 31% of disease genes have more than one disease phenotype association, with nearly 6% associated with more than 3 Mendelian conditions. Rare variants in LMNA are associated with a variety of both dominantly and recessively inherited phenotypes. LTD - lamin tail domain

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