rs57520892, LMNA

N. diseases: 8
Disease: Lipodystrophy ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Lipodystrophy
CUI: C0023787
Disease: Lipodystrophy
0.020 GeneticVariation BEFREE MAD patients with type A lipodystrophy with loss of sc fat from the extremities and normal or slight excess in the neck and truncal regions have been previously reported to carry a homozygous Arg527His mutation in LMNA (Lamin A/C) gene. 15998779 2005
Lipodystrophy
CUI: C0023787
Disease: Lipodystrophy
0.020 GeneticVariation BEFREE Affected patients from two pedigrees with type A lipodystrophy had the homozygous R527H mutation in LMNA. 12788894 2003