rs11575937, LMNA

N. diseases: 29
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Lipodystrophy
CUI: C0023787
Disease: Lipodystrophy
0.050 GeneticVariation BEFREE The lipodystrophy mutation R482Q, which causes a different phenotype and is believed to act through an emerin-independent mechanism, was indistinguishable from wild-type in its localization and its ability to trap emerin at the nuclear rim. 12783988 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 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 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
Hyperinsulinism
CUI: C0020459
Disease: Hyperinsulinism
0.030 GeneticVariation BEFREE Through the use of focused DNA sequencing of positional candidate genes on chromosome 1q21, we discovered that FPLD results from mutations in LMNA (R482Q; OMIM 150330.0010), which is the gene that encodes nuclear lamins A and C. By stratifying members of extended FPLD pedigrees according to LMNA genotype, we found that hyperinsulinemia is present early in the course of the disease and that dyslipidemia (characterized by high triglycerides and depressed HDL cholesterol) precedes the development of glucose abnormalities. 11136544 2000
Hyperinsulinism
CUI: C0020459
Disease: Hyperinsulinism
0.030 GeneticVariation BEFREE Association between nuclear lamin A/C R482Q mutation and partial lipodystrophy with hyperinsulinemia, dyslipidemia, hypertension, and diabetes. 10810087 2000
Hyperinsulinism
CUI: C0020459
Disease: Hyperinsulinism
0.030 GeneticVariation BEFREE FPLD was recently discovered to result from mutated LMNA (R482Q; OMIM #150330.0010), which is the gene encoding nuclear lamins A and C. Results from extended pedigrees indicate that dyslipidemia precedes the plasma glucose abnormalities in FPLD subjects with mutant LMNA, and that the hyperinsulinemia is present early in the course of the disease. 11122771 2000
Hypertensive disease
CUI: C0020538
Disease: Hypertensive disease
0.020 GeneticVariation BEFREE Heterozygosity for LMNA R482Q mutation causes FPLD, which is associated with increased risk of hyperlipidemia and hypertension. 23313286 2013
Dyslipidemias
CUI: C0242339
Disease: Dyslipidemias
0.020 GeneticVariation BEFREE FPLD was recently discovered to result from mutated LMNA (R482Q; OMIM #150330.0010), which is the gene encoding nuclear lamins A and C. Results from extended pedigrees indicate that dyslipidemia precedes the plasma glucose abnormalities in FPLD subjects with mutant LMNA, and that the hyperinsulinemia is present early in the course of the disease. 11122771 2000
Diabetes
CUI: C0011847
Disease: Diabetes
0.020 GeneticVariation BEFREE We previously identified a novel mutation, namely LMNA R482Q, that was found to underlie Dunnigan-type partial lipodystrophy (FPLD) and diabetes in an extended Canadian kindred. 10999845 2000
Dyslipidemias
CUI: C0242339
Disease: Dyslipidemias
0.020 GeneticVariation BEFREE Through the use of focused DNA sequencing of positional candidate genes on chromosome 1q21, we discovered that FPLD results from mutations in LMNA (R482Q; OMIM 150330.0010), which is the gene that encodes nuclear lamins A and C. By stratifying members of extended FPLD pedigrees according to LMNA genotype, we found that hyperinsulinemia is present early in the course of the disease and that dyslipidemia (characterized by high triglycerides and depressed HDL cholesterol) precedes the development of glucose abnormalities. 11136544 2000
Diabetes Mellitus
CUI: C0011849
Disease: Diabetes Mellitus
0.020 GeneticVariation BEFREE Interestingly her mother, with a history of myocardial infarction and diabetes at the age of 46 but no oligomenorrhoea, was also found to harbour the same mutation (LMNA R482Q). 26662654 2015
Diabetes Mellitus
CUI: C0011849
Disease: Diabetes Mellitus
0.020 GeneticVariation BEFREE We previously identified a novel mutation, namely LMNA R482Q, that was found to underlie Dunnigan-type partial lipodystrophy (FPLD) and diabetes in an extended Canadian kindred. 10999845 2000
Hypertensive disease
CUI: C0020538
Disease: Hypertensive disease
0.020 GeneticVariation BEFREE Thus, LMNA R482Q was associated with lipodystrophy, hyperinsulinemia, dyslipidemia, diabetes, and hypertension. 10810087 2000
Diabetes
CUI: C0011847
Disease: Diabetes
0.020 GeneticVariation BEFREE Interestingly her mother, with a history of myocardial infarction and diabetes at the age of 46 but no oligomenorrhoea, was also found to harbour the same mutation (LMNA R482Q). 26662654 2015
Myocardial Infarction
CUI: C0027051
Disease: Myocardial Infarction
0.010 GeneticVariation BEFREE Interestingly her mother, with a history of myocardial infarction and diabetes at the age of 46 but no oligomenorrhoea, was also found to harbour the same mutation (LMNA R482Q). 26662654 2015
Muscular Dystrophy, Emery-Dreifuss
CUI: C0410189
Disease: Muscular Dystrophy, Emery-Dreifuss
0.010 GeneticVariation BEFREE Three such point mutations, G465D (FPLD), R482L, (FPLD), or R527P (EDMD), were introduced by site-specific mutagenesis in the C-terminal tail domain of a FLAG-tagged full-length lamin A construct. 12729796 2003
Hyperlipidemia
CUI: C0020473
Disease: Hyperlipidemia
0.010 GeneticVariation BEFREE Heterozygosity for LMNA R482Q mutation causes FPLD, which is associated with increased risk of hyperlipidemia and hypertension. 23313286 2013
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
CUI: C1450051
Disease: Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
0.010 GeneticVariation BEFREE Homozygous lamin A/C familial lipodystrophy R482Q mutation in autosomal recessive Emery Dreifuss muscular dystrophy. 23313286 2013
Polycystic Ovary Syndrome
CUI: C0032460
Disease: Polycystic Ovary Syndrome
0.010 GeneticVariation BEFREE Both sisters were found to be heterozygous for the R482Q mutation in the lamin A/C gene (LMNA) gene, establishing the definitive diagnosis as Dunnigan-type familial partial lipodystrophy complicated by severe insulin resistance and secondary PCOS. 18728124 2008
Hypertriglyceridemia
CUI: C0020557
Disease: Hypertriglyceridemia
0.010 GeneticVariation BEFREE Through the use of focused DNA sequencing of positional candidate genes on chromosome 1q21, we discovered that FPLD results from mutations in LMNA (R482Q; OMIM 150330.0010), which is the gene that encodes nuclear lamins A and C. By stratifying members of extended FPLD pedigrees according to LMNA genotype, we found that hyperinsulinemia is present early in the course of the disease and that dyslipidemia (characterized by high triglycerides and depressed HDL cholesterol) precedes the development of glucose abnormalities. 11136544 2000
Pulmonary Fibrosis
CUI: C0034069
Disease: Pulmonary Fibrosis
0.010 GeneticVariation BEFREE A clinical picture related to the LMNA Arg482Gln mutation may be more diversified than it was previously considered and include low BMI and pulmonary fibrosis. 19859838 2009
Familial Partial Lipodystrophy, Type 2
CUI: C1720860
Disease: Familial Partial Lipodystrophy, Type 2
0.800 CausalMutation CLINVAR
Lethal tight skin contracture syndrome (disorder)
CUI: C0406585
Disease: Lethal tight skin contracture syndrome (disorder)
0.700 CausalMutation CLINVAR