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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|
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 | 0.800 | 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 | De novo LMNA mutations cause a new form of congenital muscular dystrophy. | 18551513 | 2008 |