rs11575937, LMNA

N. diseases: 29
Disease: Partial lipodystrophy ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Partial lipodystrophy
CUI: C4316789
Disease: Partial lipodystrophy
0.040 GeneticVariation BEFREE Mutations R482Q and -W, which are responsible for Dunnigan-type partial lipodystrophy, lower the affinity of the peptide for DNA. 12718522 2003
Partial lipodystrophy
CUI: C4316789
Disease: Partial lipodystrophy
0.040 GeneticVariation BEFREE The findings indicated that 1) a spectrum of LMNA mutations underlies FPLD; 2) aberrant lamin A, and not lamin C, is likely to underlie FPLD, as R584H occurs within LMNA sequence that is specific for lamin A; 3) the V440M mutation may not cause lipodystrophy on its own; 4) compound heterozygosity for V440M and R482Q is associated with a relatively more severe FPLD phenotype, but not with complete lipodystrophy; and 5) variation in the severity of the phenotype might be related to environmental factors. 10999845 2000
Partial lipodystrophy
CUI: C4316789
Disease: Partial lipodystrophy
0.040 GeneticVariation BEFREE Association between nuclear lamin A/C R482Q mutation and partial lipodystrophy with hyperinsulinemia, dyslipidemia, hypertension, and diabetes. 10810087 2000
Partial lipodystrophy
CUI: C4316789
Disease: Partial lipodystrophy
0.040 GeneticVariation BEFREE LMNA R482Q mutation in partial lipodystrophy associated with reduced plasma leptin concentration. 10999791 2000