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 CausalMutation CLINVAR
Lethal tight skin contracture syndrome (disorder)
CUI: C0406585
Disease: Lethal tight skin contracture syndrome (disorder)
0.700 CausalMutation CLINVAR
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
CUI: C0410190
Disease: Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
0.700 CausalMutation CLINVAR
Progeria
CUI: C0033300
Disease: Progeria
0.700 CausalMutation CLINVAR
Charcot-Marie-Tooth disease, Type 2B1
CUI: C1854154
Disease: Charcot-Marie-Tooth disease, Type 2B1
0.700 CausalMutation CLINVAR
Mandibuloacral dysostosis
CUI: C0432291
Disease: Mandibuloacral dysostosis
0.700 CausalMutation CLINVAR
Malouf syndrome
CUI: C0796031
Disease: Malouf syndrome
0.700 CausalMutation CLINVAR
Heart-hand syndrome, Slovenian type
CUI: C1857829
Disease: Heart-hand syndrome, Slovenian type
0.700 CausalMutation CLINVAR
MUSCULAR DYSTROPHY, CONGENITAL, LMNA-RELATED (disorder)
CUI: C2750785
Disease: MUSCULAR DYSTROPHY, CONGENITAL, LMNA-RELATED (disorder)
0.700 CausalMutation CLINVAR
Emery-Dreifuss Muscular Dystrophy 3
CUI: C2750035
Disease: Emery-Dreifuss Muscular Dystrophy 3
0.700 CausalMutation CLINVAR
Cardiomyopathy, Familial Idiopathic
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
0.700 CausalMutation CLINVAR
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
Monogenic diabetes
CUI: C3888631
Disease: Monogenic diabetes
0.700 CausalMutation CLINVAR Isolation and characterization of catalytic and calmodulin-binding domains of Bordetella pertussis adenylate cyclase. 2007407 1991
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
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
Monogenic diabetes
CUI: C3888631
Disease: Monogenic diabetes
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/C R482Q mutation in canadian kindreds with Dunnigan-type familial partial lipodystrophy. 10587585 2000
Familial partial lipodystrophy
CUI: C0271694
Disease: Familial partial lipodystrophy
0.100 GeneticVariation BEFREE DNA sequencing of LMNA in five Canadian FPLD probands indicated that each had a novel missense mutation, R482Q, which co-segregated with the FPLD phenotype and was absent from 2000 normal alleles ( P = 1.1 x 10(-13)). 10587585 2000
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
Monogenic diabetes
CUI: C3888631
Disease: Monogenic diabetes
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 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 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 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
Monogenic diabetes
CUI: C3888631
Disease: Monogenic diabetes
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
Familial partial lipodystrophy
CUI: C0271694
Disease: Familial partial lipodystrophy
0.100 GeneticVariation BEFREE We have localized a gene for FPLD to chromosome 1q21-q23, and it has recently been proposed that nuclear lamin A/C is altered in FPLD, on the basis of a novel missense mutation (R482Q) in five Canadian probands. 10739751 2000