rs11575937, LMNA

N. diseases: 29
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Familial partial lipodystrophy
CUI: C0271694
Disease: Familial partial lipodystrophy
0.100 GeneticVariation BEFREE We identified 16 individuals carrying the p.R482Q pathogenic variant in LMNA associated with Dunnigan familial partial lipodystrophy. 31836692 2020
Lipodystrophy
CUI: C0023787
Disease: Lipodystrophy
0.050 GeneticVariation BEFREE Lipodystrophy associated with LMNA mutation R482L causes loss of fat tissue. 29040816 2018
Familial partial lipodystrophy
CUI: C0271694
Disease: Familial partial lipodystrophy
0.100 GeneticVariation BEFREE She was subsequently found to have familial partial lipodystrophy (FPLD2, OMIM #151660) caused by an R482Q mutation in the LMNA gene encoding lamin A/C. 26662654 2015
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
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
Familial Partial Lipodystrophy, Type 2
CUI: C1720860
Disease: Familial Partial Lipodystrophy, Type 2
0.800 GeneticVariation UNIPROT LMNA gene mutation as a model of cardiometabolic dysfunction: from genetic analysis to treatment response. 24485160 2014
Hyperglycemia
CUI: C0020456
Disease: Hyperglycemia
0.700 CausalMutation CLINVAR Overlapping syndromes in laminopathies: a meta-analysis of the reported literature. 23853504 2013
Monogenic diabetes
CUI: C3888631
Disease: Monogenic diabetes
0.700 CausalMutation CLINVAR Overlapping syndromes in laminopathies: a meta-analysis of the reported literature. 23853504 2013
Hereditary Motor and Sensory-Neuropathy Type II
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
0.700 CausalMutation CLINVAR Homozygous lamin A/C familial lipodystrophy R482Q mutation in autosomal recessive Emery Dreifuss muscular dystrophy. 23313286 2013
Hyperglycemia
CUI: C0020456
Disease: Hyperglycemia
0.700 CausalMutation CLINVAR Homozygous lamin A/C familial lipodystrophy R482Q mutation in autosomal recessive Emery Dreifuss muscular dystrophy. 23313286 2013
Monogenic diabetes
CUI: C3888631
Disease: Monogenic diabetes
0.700 CausalMutation CLINVAR Homozygous lamin A/C familial lipodystrophy R482Q mutation in autosomal recessive Emery Dreifuss muscular dystrophy. 23313286 2013
Familial partial lipodystrophy
CUI: C0271694
Disease: Familial partial lipodystrophy
0.100 GeneticVariation BEFREE Heterozygosity for LMNA R482Q mutation causes FPLD, which is associated with increased risk of hyperlipidemia and hypertension. 23313286 2013
Lipodystrophy
CUI: C0023787
Disease: Lipodystrophy
0.050 GeneticVariation BEFREE Homozygous lamin A/C familial lipodystrophy R482Q mutation in autosomal recessive Emery Dreifuss muscular dystrophy. 23313286 2013
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
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
Hyperglycemia
CUI: C0020456
Disease: Hyperglycemia
0.700 CausalMutation CLINVAR Phenotypic diversity in patients with lipodystrophy associated with LMNA mutations. 22700598 2012
Monogenic diabetes
CUI: C3888631
Disease: Monogenic diabetes
0.700 CausalMutation CLINVAR Phenotypic diversity in patients with lipodystrophy associated with LMNA mutations. 22700598 2012
Familial partial lipodystrophy
CUI: C0271694
Disease: Familial partial lipodystrophy
0.100 GeneticVariation BEFREE A genetic test revealed the presence of a heterozygous LMNA gene mutation: c.1445G>A, consistent with the "hot spot" for FPLD. 20625965 2010
Hereditary Motor and Sensory-Neuropathy Type II
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
0.700 CausalMutation CLINVAR LMNA mutations, skeletal muscle lipid metabolism, and insulin resistance. 20130076 2010
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 GeneticVariation UNIPROT The R439C mutation in LMNA causes lamin oligomerization and susceptibility to oxidative stress. 19220582 2009
Hereditary Motor and Sensory-Neuropathy Type II
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
0.700 CausalMutation CLINVAR The role of LMNA in adipose: a novel mouse model of lipodystrophy based on the Dunnigan-type familial partial lipodystrophy mutation. 19201734 2009
Hyperglycemia
CUI: C0020456
Disease: Hyperglycemia
0.700 CausalMutation CLINVAR The role of LMNA in adipose: a novel mouse model of lipodystrophy based on the Dunnigan-type familial partial lipodystrophy mutation. 19201734 2009