LMNA, lamin A/C, 4000

N. diseases: 824; N. variants: 285
Disease: Hyperglycemia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0020456
Disease: Hyperglycemia
Hyperglycemia 		0.100 CausalMutation disease CLINVAR Homozygous lamin A/C familial lipodystrophy R482Q mutation in autosomal recessive Emery Dreifuss muscular dystrophy. 23313286 2013
CUI: C0020456
Disease: Hyperglycemia
Hyperglycemia 		0.100 GeneticVariation disease CLINVAR Cosegregation of focal segmental glomerulosclerosis in a family with familial partial lipodystrophy due to a mutation in LMNA. 24080738 2013
CUI: C0020456
Disease: Hyperglycemia
Hyperglycemia 		0.100 CausalMutation disease CLINVAR Overlapping syndromes in laminopathies: a meta-analysis of the reported literature. 23853504 2013
CUI: C0020456
Disease: Hyperglycemia
Hyperglycemia 		0.100 GeneticVariation disease CLINVAR Overlapping syndromes in laminopathies: a meta-analysis of the reported literature. 23853504 2013
CUI: C0020456
Disease: Hyperglycemia
Hyperglycemia 		0.100 CausalMutation disease CLINVAR Phenotypic diversity in patients with lipodystrophy associated with LMNA mutations. 22700598 2012
CUI: C0020456
Disease: Hyperglycemia
Hyperglycemia 		0.100 GeneticVariation disease CLINVAR Genotype-phenotype correlations in laminopathies: how does fate translate? 20074070 2010
CUI: C0020456
Disease: Hyperglycemia
Hyperglycemia 		0.100 CausalMutation disease CLINVAR The role of LMNA in adipose: a novel mouse model of lipodystrophy based on the Dunnigan-type familial partial lipodystrophy mutation. 19201734 2009
CUI: C0020456
Disease: Hyperglycemia
Hyperglycemia 		0.100 CausalMutation disease CLINVAR Laminopathies: multisystem dystrophy syndromes. 16364671 2006
CUI: C0020456
Disease: Hyperglycemia
Hyperglycemia 		0.100 CausalMutation disease CLINVAR Nuclear lamin A inhibits adipocyte differentiation: implications for Dunnigan-type familial partial lipodystrophy. 16415042 2006
CUI: C0020456
Disease: Hyperglycemia
Hyperglycemia 		0.100 GeneticVariation disease CLINVAR Familial dilated cardiomyopathy and isolated left ventricular noncompaction associated with lamin A/C gene mutations. 15219508 2004
CUI: C0020456
Disease: Hyperglycemia
Hyperglycemia 		0.100 CausalMutation disease CLINVAR Nuclear lamin A/C R482Q mutation in canadian kindreds with Dunnigan-type familial partial lipodystrophy. 10587585 2000
CUI: C0020456
Disease: Hyperglycemia
Hyperglycemia 		0.100 CausalMutation disease CLINVAR Heterogeneity of nuclear lamin A mutations in Dunnigan-type familial partial lipodystrophy. 10999845 2000
CUI: C0020456
Disease: Hyperglycemia
Hyperglycemia 		0.100 CausalMutation disease 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
CUI: C0020456
Disease: Hyperglycemia
Hyperglycemia 		0.100 CausalMutation disease CLINVAR LMNA, encoding lamin A/C, is mutated in partial lipodystrophy. 10655060 2000
CUI: C0020456
Disease: Hyperglycemia
Hyperglycemia 		0.100 CausalMutation disease CLINVAR Lamin A/C mutation in a woman and her two daughters with Dunnigan-type partial lipodystrophy and insulin resistance. 10868844 2000
CUI: C0020456
Disease: Hyperglycemia
Hyperglycemia 		0.100 CausalMutation disease CLINVAR Isolation and characterization of catalytic and calmodulin-binding domains of Bordetella pertussis adenylate cyclase. 2007407 1991
CUI: C0020456
Disease: Hyperglycemia
Hyperglycemia 		0.100 GeneticVariation disease CLINVAR Diagnostic validity of the MAST and the alcohol dependence scale in the assessment of DSM-III alcohol disorders. 2270059 1990
CUI: C0020456
Disease: Hyperglycemia
Hyperglycemia 		0.100 Biomarker disease HPO