|
rs57920071
|
|
Familial Partial Lipodystrophy, Type 2
|
|
0.830 |
GeneticVariation
|
UNIPROT |
|
|
|
|
rs57318642
|
|
Progeria
|
|
0.820 |
GeneticVariation
|
UNIPROT |
LMNA-associated cardiocutaneous progeria: an inherited autosomal dominant premature aging syndrome with late onset.
|
23666920 |
2013 |
|
rs57318642
|
|
Progeria
|
|
0.820 |
GeneticVariation
|
UNIPROT |
LMNA mutation in progeroid syndrome in association with strokes.
|
21791255 |
2012 |
|
rs57318642
|
|
Progeria
|
|
0.820 |
GeneticVariation
|
UNIPROT |
Requirements for efficient proteolytic cleavage of prelamin A by ZMPSTE24.
|
22355414 |
2012 |
|
rs57318642
|
|
Progeria
|
|
0.820 |
GeneticVariation
|
UNIPROT |
Mammalian SUN protein interaction networks at the inner nuclear membrane and their role in laminopathy disease processes.
|
19933576 |
2010 |
|
rs57318642
|
|
Progeria
|
|
0.820 |
GeneticVariation
|
UNIPROT |
p.S143F mutation in lamin A/C: a new phenotype combining myopathy and progeria.
|
15622532 |
2005 |
|
rs57318642
|
|
Progeria
|
|
0.820 |
GeneticVariation
|
UNIPROT |
Homozygous missense mutation in the lamin A/C gene causes autosomal recessive Hutchinson-Gilford progeria syndrome.
|
15286156 |
2004 |
|
rs57318642
|
|
Progeria
|
|
0.820 |
GeneticVariation
|
UNIPROT |
Novel lamin A/C gene (LMNA) mutations in atypical progeroid syndromes.
|
15060110 |
2004 |
|
rs57318642
|
|
Progeria
|
|
0.820 |
GeneticVariation
|
UNIPROT |
LMNA is mutated in Hutchinson-Gilford progeria (MIM 176670) but not in Wiedemann-Rautenstrauch progeroid syndrome (MIM 264090).
|
12768443 |
2003 |
|
rs57318642
|
|
Progeria
|
|
0.820 |
GeneticVariation
|
UNIPROT |
Recurrent de novo point mutations in lamin A cause Hutchinson-Gilford progeria syndrome.
|
12714972 |
2003 |
|
rs57318642
|
|
Progeria
|
|
0.820 |
GeneticVariation
|
UNIPROT |
LMNA mutations in atypical Werner's syndrome.
|
12927431 |
2003 |
|
rs60310264
|
|
Progeria
|
|
0.820 |
GeneticVariation
|
UNIPROT |
|
|
|
|
rs267607578
|
|
Cardiomyopathy, Familial Idiopathic
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Clinical and mutational spectrum in a cohort of 105 unrelated patients with dilated cardiomyopathy.
|
21846512 |
2012 |
|
rs267607578
|
|
Cardiomyopathy, Familial Idiopathic
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Dilated cardiomyopathy with profound segmental wall motion abnormalities and ventricular arrhythmia caused by the R541C mutation in the LMNA gene.
|
19167105 |
2010 |
|
rs267607578
|
|
Cardiomyopathy, Familial Idiopathic
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Morphological analysis of 13 LMNA variants identified in a cohort of 324 unrelated patients with idiopathic or familial dilated cardiomyopathy.
|
20160190 |
2010 |
|
rs267607578
|
|
Cardiomyopathy, Familial Idiopathic
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Sumoylation regulates lamin A function and is lost in lamin A mutants associated with familial cardiomyopathies.
|
18606848 |
2008 |
|
rs267607578
|
|
Cardiomyopathy, Familial Idiopathic
|
|
0.810 |
GeneticVariation
|
UNIPROT |
In vivo and in vitro examination of the functional significances of novel lamin gene mutations in heart failure patients.
|
16061563 |
2005 |
|
rs267607578
|
|
Cardiomyopathy, Familial Idiopathic
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Nuclear envelope alterations in fibroblasts from patients with muscular dystrophy, cardiomyopathy, and partial lipodystrophy carrying lamin A/C gene mutations.
|
15372542 |
2004 |
|
rs267607578
|
|
Cardiomyopathy, Familial Idiopathic
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Familial dilated cardiomyopathy and isolated left ventricular noncompaction associated with lamin A/C gene mutations.
|
15219508 |
2004 |
|
rs267607578
|
|
Cardiomyopathy, Familial Idiopathic
|
|
0.810 |
GeneticVariation
|
UNIPROT |
A novel mutation, Ser143Pro, in the lamin A/C gene is common in finnish patients with familial dilated cardiomyopathy.
|
15140538 |
2004 |
|
rs267607578
|
|
Cardiomyopathy, Familial Idiopathic
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Natural history of dilated cardiomyopathy due to lamin A/C gene mutations.
|
12628721 |
2003 |
|
rs267607578
|
|
Cardiomyopathy, Familial Idiopathic
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Apical left ventricular aneurysm without atrio-ventricular block due to a lamin A/C gene mutation.
|
14675861 |
2003 |
|
rs267607578
|
|
Cardiomyopathy, Familial Idiopathic
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Expanding the phenotype of LMNA mutations in dilated cardiomyopathy and functional consequences of these mutations.
|
12920062 |
2003 |
|
rs267607578
|
|
Cardiomyopathy, Familial Idiopathic
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Mutation analysis of the lamin A/C gene (LMNA) among patients with different cardiomuscular phenotypes.
|
14684700 |
2003 |
|
rs267607578
|
|
Cardiomyopathy, Familial Idiopathic
|
|
0.810 |
GeneticVariation
|
UNIPROT |
A novel lamin A/C mutation in a family with dilated cardiomyopathy, prominent conduction system disease, and need for permanent pacemaker implantation.
|
12486434 |
2002 |