rs56673169, LMNA

N. diseases: 2
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 By studying a family with homozygous LMNA mutation (K542N), we showed that HGPS can also be caused by mutations affecting both isoforms, lamin A and C. Here, we aimed to elucidate the molecular mechanisms underlying the pathogenesis in both, lamin A- (sporadic) and lamin A and C-related (hereditary) HGPS. 21738662 2011
Progeria
CUI: C0033300
Disease: Progeria
0.710 GeneticVariation UNIPROT