rs11575937, LMNA

N. diseases: 29
Disease: Monogenic diabetes ×
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 Overlapping syndromes in laminopathies: a meta-analysis of the reported literature. 23853504 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
Monogenic diabetes
CUI: C3888631
Disease: Monogenic diabetes
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 The role of LMNA in adipose: a novel mouse model of lipodystrophy based on the Dunnigan-type familial partial lipodystrophy mutation. 19201734 2009
Monogenic diabetes
CUI: C3888631
Disease: Monogenic diabetes
0.700 CausalMutation CLINVAR Laminopathies: multisystem dystrophy syndromes. 16364671 2006
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
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
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
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
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