Source: CURATED ×
Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
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|
0.800 | GeneticVariation | UNIPROT | Improved diagnostic yield of neuromuscular disorders applying clinical exome sequencing in patients arising from a consanguineous population. | 27234031 | 2017 |
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|
0.800 | GeneticVariation | UNIPROT | Autosomal recessive Emery-Dreifuss muscular dystrophy caused by a novel mutation (R225Q) in the lamin A/C gene identified by exome sequencing. | 22431096 | 2012 |
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|
A | 0.800 | GeneticVariation | CLINVAR | Lamin A rod domain mutants target heterochromatin protein 1alpha and beta for proteasomal degradation by activation of F-box protein, FBXW10. | 20498703 | 2010 |
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|
A | 0.800 | GeneticVariation | CLINVAR | Expression of disease-causing lamin A mutants impairs the formation of DNA repair foci. | 16772334 | 2006 |
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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 |