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, Type 2
CUI: C1720860
Disease: Familial Partial Lipodystrophy, Type 2
0.800 GeneticVariation UNIPROT Multisystem dystrophy syndrome due to novel missense mutations in the amino-terminal head and alpha-helical rod domains of the lamin A/C gene. 12015247 2002
Familial Partial Lipodystrophy, Type 2
CUI: C1720860
Disease: Familial Partial Lipodystrophy, Type 2
0.800 GeneticVariation UNIPROT Mutational and haplotype analyses of families with familial partial lipodystrophy (Dunnigan variety) reveal recurrent missense mutations in the globular C-terminal domain of lamin A/C. 10739751 2000
Familial Partial Lipodystrophy, Type 2
CUI: C1720860
Disease: Familial Partial Lipodystrophy, Type 2
0.800 GeneticVariation UNIPROT Lamin A/C mutations with lipodystrophy, cardiac abnormalities, and muscular dystrophy. 12196663 2002
Familial Partial Lipodystrophy, Type 2
CUI: C1720860
Disease: Familial Partial Lipodystrophy, Type 2
0.800 GeneticVariation UNIPROT LMNA, encoding lamin A/C, is mutated in partial lipodystrophy. 10655060 2000
Familial Partial Lipodystrophy, Type 2
CUI: C1720860
Disease: Familial Partial Lipodystrophy, Type 2
0.800 GeneticVariation UNIPROT Novel LMNA mutations seen in patients with familial partial lipodystrophy subtype 2 (FPLD2; MIM 151660). 17250669 2007
Familial Partial Lipodystrophy, Type 2
CUI: C1720860
Disease: Familial Partial Lipodystrophy, Type 2
0.800 GeneticVariation UNIPROT Nuclear lamin A/C R482Q mutation in canadian kindreds with Dunnigan-type familial partial lipodystrophy. 10587585 2000
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
Familial Partial Lipodystrophy, Type 2
CUI: C1720860
Disease: Familial Partial Lipodystrophy, Type 2
0.800 GeneticVariation UNIPROT Properties of lamin A mutants found in Emery-Dreifuss muscular dystrophy, cardiomyopathy and Dunnigan-type partial lipodystrophy. 11792809 2001
Heart-hand syndrome, Slovenian type
CUI: C1857829
Disease: Heart-hand syndrome, Slovenian type
0.700 CausalMutation CLINVAR
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
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
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
Hereditary Motor and Sensory-Neuropathy Type II
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
0.700 CausalMutation CLINVAR Nuclear lamin A/C R482Q mutation in canadian kindreds with Dunnigan-type familial partial lipodystrophy. 10587585 2000
Hyperglycemia
CUI: C0020456
Disease: Hyperglycemia
0.700 CausalMutation CLINVAR Mutational and haplotype analyses of families with familial partial lipodystrophy (Dunnigan variety) reveal recurrent missense mutations in the globular C-terminal domain of lamin A/C. 10739751 2000
Hyperglycemia
CUI: C0020456
Disease: Hyperglycemia
0.700 CausalMutation CLINVAR Lamin A/C mutation in a woman and her two daughters with Dunnigan-type partial lipodystrophy and insulin resistance. 10868844 2000
Hyperglycemia
CUI: C0020456
Disease: Hyperglycemia
0.700 CausalMutation CLINVAR Phenotypic diversity in patients with lipodystrophy associated with LMNA mutations. 22700598 2012
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
Hyperglycemia
CUI: C0020456
Disease: Hyperglycemia
0.700 CausalMutation CLINVAR Laminopathies: multisystem dystrophy syndromes. 16364671 2006
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
Hyperglycemia
CUI: C0020456
Disease: Hyperglycemia
0.700 CausalMutation CLINVAR Heterogeneity of nuclear lamin A mutations in Dunnigan-type familial partial lipodystrophy. 10999845 2000
Hyperglycemia
CUI: C0020456
Disease: Hyperglycemia
0.700 CausalMutation CLINVAR Isolation and characterization of catalytic and calmodulin-binding domains of Bordetella pertussis adenylate cyclase. 2007407 1991
Hyperglycemia
CUI: C0020456
Disease: Hyperglycemia
0.700 CausalMutation CLINVAR Overlapping syndromes in laminopathies: a meta-analysis of the reported literature. 23853504 2013
Hyperglycemia
CUI: C0020456
Disease: Hyperglycemia
0.700 CausalMutation CLINVAR LMNA, encoding lamin A/C, is mutated in partial lipodystrophy. 10655060 2000
Hyperglycemia
CUI: C0020456
Disease: Hyperglycemia
0.700 CausalMutation CLINVAR Nuclear lamin A/C R482Q mutation in canadian kindreds with Dunnigan-type familial partial lipodystrophy. 10587585 2000
Hyperglycemia
CUI: C0020456
Disease: Hyperglycemia
0.700 CausalMutation CLINVAR Nuclear lamin A inhibits adipocyte differentiation: implications for Dunnigan-type familial partial lipodystrophy. 16415042 2006