rs142000963, LMNA

N. diseases: 8
Disease: Progeria ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Progeria
CUI: C0033300
Disease: Progeria
0.710 GeneticVariation BEFREE The c.1930C > T (R644C) missense mutation has previously been reported in eight unrelated patients with variable features including left ventricular hypertrophy, limb girdle muscle weakness, dilated cardiomyopathy and atypical progeria. 18478590 2008
Progeria
CUI: C0033300
Disease: Progeria
0.710 GeneticVariation UNIPROT