rs142000963, LMNA

N. diseases: 8
Disease: Charcot-Marie-Tooth Disease ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Charcot-Marie-Tooth Disease
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
0.700 GeneticVariation CLINVAR Genetic diagnosis of Charcot-Marie-Tooth disease in a population by next-generation sequencing. 25025039 2014
Charcot-Marie-Tooth Disease
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
0.700 GeneticVariation CLINVAR Extreme phenotypic diversity and nonpenetrance in families with the LMNA gene mutation R644C. 18478590 2008