Source: CURATED ×
Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
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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 | 0.700 | CausalMutation | CLINVAR | Inflammatory changes in infantile-onset LMNA-associated myopathy. | 21632249 | 2011 |
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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 | 0.700 | CausalMutation | CLINVAR | Defects in cell spreading and ERK1/2 activation in fibroblasts with lamin A/C mutations. | 19524666 | 2009 |
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A | 0.700 | CausalMutation | CLINVAR | Laminopathies in Russian families. | 18564364 | 2008 |
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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 | 0.700 | 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 | 0.700 | CausalMutation | CLINVAR | Mutation analysis of the lamin A/C gene (LMNA) among patients with different cardiomuscular phenotypes. | 14684700 | 2003 |
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A | 0.700 | CausalMutation | CLINVAR | Clinical relevance of atrial fibrillation/flutter, stroke, pacemaker implant, and heart failure in Emery-Dreifuss muscular dystrophy: a long-term longitudinal study. | 12649505 | 2003 |
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|
A | 0.700 | CausalMutation | CLINVAR | The R249Q mutation is located within the central rod domain of the LMNA gene, and has been described in at least five unrelated sporadic EDMD2 patients. | 12032588 | 2002 |
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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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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 | 0.700 | CausalMutation | CLINVAR | Clinical and molecular genetic spectrum of autosomal dominant Emery-Dreifuss muscular dystrophy due to mutations of the lamin A/C gene. | 10939567 | 2000 |