Source: INFERRED ×
| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
A | 0.800 | GeneticVariation | CLINVAR | Congenital fiber type disproportion myopathy caused by LMNA mutations. | 24642510 | 2014 |
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|
T | 0.800 | CausalMutation | CLINVAR | De novo LMNA mutations cause a new form of congenital muscular dystrophy. | 18551513 | 2008 |
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|
A | 0.700 | CausalMutation | CLINVAR | Defects in cell spreading and ERK1/2 activation in fibroblasts with lamin A/C mutations. | 19524666 | 2009 |
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|
A | 0.800 | GeneticVariation | CLINVAR | Different mutations in the LMNA gene cause autosomal dominant and autosomal recessive Emery-Dreifuss muscular dystrophy. | 10739764 | 2000 |
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|
A | 0.700 | CausalMutation | CLINVAR | Different mutations in the LMNA gene cause autosomal dominant and autosomal recessive Emery-Dreifuss muscular dystrophy. | 10739764 | 2000 |
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|
A | 0.800 | GeneticVariation | CLINVAR | Expression of disease-causing lamin A mutants impairs the formation of DNA repair foci. | 16772334 | 2006 |
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|
C | 0.700 | CausalMutation | CLINVAR | Genetic analysis in 418 index patients with idiopathic dilated cardiomyopathy: overview of 10 years' experience. | 23349452 | 2013 |
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|
A | 0.700 | CausalMutation | CLINVAR | Hypoplasia of the aorta in a patient diagnosed with LMNA gene mutation. | 22883396 | 2014 |
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|
A | 0.800 | GeneticVariation | CLINVAR | In situ hybridization detection of HTLV-I RNA in peripheral blood mononuclear cells of TSP/HAM patients and their spouses. | 1849984 | 1991 |
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|
A | 0.700 | CausalMutation | CLINVAR | Inflammatory changes in infantile-onset LMNA-associated myopathy. | 21632249 | 2011 |
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|
A | 0.700 | CausalMutation | CLINVAR | Lamin A N-terminal phosphorylation is associated with myoblast activation: impairment in Emery-Dreifuss muscular dystrophy. | 15744034 | 2005 |
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|
A | 0.800 | GeneticVariation | CLINVAR | Lamin A rod domain mutants target heterochromatin protein 1alpha and beta for proteasomal degradation by activation of F-box protein, FBXW10. | 20498703 | 2010 |
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|
A | 0.800 | GeneticVariation | CLINVAR | Lamin A variants that cause striated muscle disease are defective in anchoring transmembrane actin-associated nuclear lines for nuclear movement. | 21173262 | 2011 |
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|
A | 0.700 | CausalMutation | CLINVAR | Laminopathies in Russian families. | 18564364 | 2008 |
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|
A | 0.700 | CausalMutation | CLINVAR | Mutation analysis of the lamin A/C gene (LMNA) among patients with different cardiomuscular phenotypes. | 14684700 | 2003 |
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|
A | 0.800 | GeneticVariation | CLINVAR | Myopathic lamin mutations impair nuclear stability in cells and tissue and disrupt nucleo-cytoskeletal coupling. | 23427149 | 2013 |
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|
G | 0.700 | CausalMutation | CLINVAR | New intronic splicing mutation in the LMNA gene causing progressive cardiac conduction defects and variable myopathy. | 27717888 | 2016 |
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|
A | 0.700 | CausalMutation | CLINVAR | Novel and recurrent mutations in lamin A/C in patients with Emery-Dreifuss muscular dystrophy. | 11503164 | 2001 |
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|
T | 0.800 | CausalMutation | CLINVAR | Novel LMNA mutations in patients with Emery-Dreifuss muscular dystrophy and functional characterization of four LMNA mutations. | 20848652 | 2011 |
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|
A | 0.700 | CausalMutation | CLINVAR | Nuclear envelope alterations in fibroblasts from patients with muscular dystrophy, cardiomyopathy, and partial lipodystrophy carrying lamin A/C gene mutations. | 15372542 | 2004 |
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|
A | 0.800 | GeneticVariation | CLINVAR | Phenotypic clustering of lamin A/C mutations in neuromuscular patients. | 17377071 | 2007 |
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|
A | 0.800 | GeneticVariation | CLINVAR | Properties of lamin A mutants found in Emery-Dreifuss muscular dystrophy, cardiomyopathy and Dunnigan-type partial lipodystrophy. | 11792809 | 2001 |
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|
A | 0.800 | GeneticVariation | CLINVAR | Specific phosphorylation of Ser458 of A-type lamins in LMNA-associated myopathy patients. | 20980393 | 2010 |
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|
A | 0.700 | CausalMutation | CLINVAR | Specific phosphorylation of Ser458 of A-type lamins in LMNA-associated myopathy patients. | 20980393 | 2010 |
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|
A | 0.800 | GeneticVariation | CLINVAR | Structure of the globular tail of nuclear lamin. | 11901143 | 2002 |