Source: CURATED ×
Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
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|
A | 0.800 | GeneticVariation | CLINVAR | Congenital fiber type disproportion myopathy caused by LMNA mutations. | 24642510 | 2014 |
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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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|
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 | 0.800 | GeneticVariation | 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 | Phenotypic clustering of lamin A/C mutations in neuromuscular patients. | 17377071 | 2007 |
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|
A | 0.800 | GeneticVariation | CLINVAR | Cardiac features of Emery-Dreifuss muscular dystrophy caused by lamin A/C gene mutations. | 14659775 | 2003 |
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|
A | 0.800 | GeneticVariation | CLINVAR | Structure of the globular tail of nuclear lamin. | 11901143 | 2002 |
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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 | 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 | Clinical and molecular genetic spectrum of autosomal dominant Emery-Dreifuss muscular dystrophy due to mutations of the lamin A/C gene. | 10939567 | 2000 |
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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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|
0.800 | GeneticVariation | UNIPROT |