Source: INFERRED ×
| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
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 | 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 | Inflammatory changes in infantile-onset LMNA-associated myopathy. | 21632249 | 2011 |
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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 | Laminopathies in Russian families. | 18564364 | 2008 |
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|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
C | 0.800 | CausalMutation | CLINVAR | ||||||
|
C | 0.800 | CausalMutation | CLINVAR | ||||||
|
C | 0.700 | GeneticVariation | CLINVAR | ||||||
|
C | 0.700 | CausalMutation | CLINVAR | ||||||
|
C | 0.700 | CausalMutation | CLINVAR | ||||||
|
C | 0.700 | CausalMutation | CLINVAR | ||||||
|
C | 0.700 | CausalMutation | CLINVAR | ||||||
|
C | 0.700 | CausalMutation | CLINVAR | ||||||
|
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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|
G | 0.710 | CausalMutation | CLINVAR | ||||||
|
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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|
T | 0.810 | CausalMutation | CLINVAR | ||||||
|
T | 0.800 | CausalMutation | CLINVAR | De novo LMNA mutations cause a new form of congenital muscular dystrophy. | 18551513 | 2008 |
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|
T | 0.800 | CausalMutation | CLINVAR | "Two children with ""dropped head"" syndrome due to lamin A/C mutations." | 20886652 | 2010 |
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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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|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR |