rs11575937, LMNA

N. diseases: 29
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Monogenic diabetes
CUI: C3888631
Disease: Monogenic diabetes
0.700 CausalMutation CLINVAR Nuclear lamin A inhibits adipocyte differentiation: implications for Dunnigan-type familial partial lipodystrophy. 16415042 2006
Hyperglycemia
CUI: C0020456
Disease: Hyperglycemia
0.700 CausalMutation CLINVAR Nuclear lamin A inhibits adipocyte differentiation: implications for Dunnigan-type familial partial lipodystrophy. 16415042 2006
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 LMNA, encoding lamin A/C, is mutated in partial lipodystrophy. 10655060 2000
Monogenic diabetes
CUI: C3888631
Disease: Monogenic diabetes
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 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 Heterogeneity of nuclear lamin A mutations in Dunnigan-type familial partial lipodystrophy. 10999845 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 Heterogeneity of nuclear lamin A mutations in Dunnigan-type familial partial lipodystrophy. 10999845 2000
Hyperglycemia
CUI: C0020456
Disease: Hyperglycemia
0.700 CausalMutation CLINVAR LMNA, encoding lamin A/C, is mutated in partial lipodystrophy. 10655060 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
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
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
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