| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
G | 0.700 | CausalMutation | CLINVAR | Myopathic lamin mutations cause reductive stress and activate the nrf2/keap-1 pathway. | 25996830 | 2015 |
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|
G | 0.700 | CausalMutation | CLINVAR | Systematic identification of pathological lamin A interactors. | 24623722 | 2014 |
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|
G | 0.700 | CausalMutation | CLINVAR | LMNA variants cause cytoplasmic distribution of nuclear pore proteins in Drosophila and human muscle. | 22186027 | 2012 |
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|
G | 0.700 | CausalMutation | CLINVAR | LOVD v.2.0: the next generation in gene variant databases. | 21520333 | 2011 |
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|
G | 0.700 | CausalMutation | CLINVAR | Inflammatory changes in infantile-onset LMNA-associated myopathy. | 21632249 | 2011 |
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|
G | 0.700 | CausalMutation | CLINVAR | Specific phosphorylation of Ser458 of A-type lamins in LMNA-associated myopathy patients. | 20980393 | 2010 |
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|
G | 0.700 | CausalMutation | CLINVAR | De novo LMNA mutations cause a new form of congenital muscular dystrophy. | 18551513 | 2008 |
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|
G | 0.700 | CausalMutation | CLINVAR | Emerinopathy and laminopathy clinical, pathological and molecular features of muscular dystrophy with nuclear envelopathy in Japan. | 18646565 | 2007 |
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|
G | 0.700 | CausalMutation | CLINVAR | Emery-Dreifuss muscular dystrophy. | 11973618 | 2002 |
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|
G | 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 |