| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
TT | 0.700 | CausalMutation | CLINVAR | Phenotype-Genotype Analysis of Chinese Patients with Early-Onset LMNA-Related Muscular Dystrophy. | 26098624 | 2015 |
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TT | 0.700 | CausalMutation | CLINVAR | Cellular microenvironments reveal defective mechanosensing responses and elevated YAP signaling in LMNA-mutated muscle precursors. | 24806962 | 2014 |
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|
TT | 0.700 | CausalMutation | CLINVAR | Hypoplasia of the aorta in a patient diagnosed with LMNA gene mutation. | 22883396 | 2014 |
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TT | 0.700 | CausalMutation | CLINVAR | Congenital muscular dystrophy with dropped head linked to the LMNA gene in a Brazilian cohort. | 24508248 | 2014 |
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|
TT | 0.700 | 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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|
TT | 0.700 | CausalMutation | CLINVAR | Inflammatory changes in infantile-onset LMNA-associated myopathy. | 21632249 | 2011 |
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|
TT | 0.700 | CausalMutation | CLINVAR | Specific phosphorylation of Ser458 of A-type lamins in LMNA-associated myopathy patients. | 20980393 | 2010 |
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|
TT | 0.700 | CausalMutation | CLINVAR | "Two children with ""dropped head"" syndrome due to lamin A/C mutations." | 20886652 | 2010 |
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|
TT | 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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TT | 0.700 | CausalMutation | CLINVAR | De novo LMNA mutations cause a new form of congenital muscular dystrophy. | 18551513 | 2008 |
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|
TT | 0.700 | CausalMutation | CLINVAR | Different mutations in the LMNA gene cause autosomal dominant and autosomal recessive Emery-Dreifuss muscular dystrophy. | 10739764 | 2000 |