| Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
|
0.800 | GeneticVariation | UNIPROT | Improved diagnostic yield of neuromuscular disorders applying clinical exome sequencing in patients arising from a consanguineous population. | 27234031 | 2017 | |||||
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
|
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 | |||||
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
|
0.800 | CausalMutation | CLINVAR | Novel LMNA mutations in patients with Emery-Dreifuss muscular dystrophy and functional characterization of four LMNA mutations. | 20848652 | 2011 | |||||
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
|
0.800 | CausalMutation | CLINVAR | "Two children with ""dropped head"" syndrome due to lamin A/C mutations." | 20886652 | 2010 | |||||
MUSCULAR DYSTROPHY, CONGENITAL, LMNA-RELATED (disorder)
|
0.800 | GeneticVariation | UNIPROT | De novo LMNA mutations cause a new form of congenital muscular dystrophy. | 18551513 | 2008 | |||||
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
|
0.800 | CausalMutation | CLINVAR | De novo LMNA mutations cause a new form of congenital muscular dystrophy. | 18551513 | 2008 | |||||
MUSCULAR DYSTROPHY, CONGENITAL, LMNA-RELATED (disorder)
|
0.800 | GeneticVariation | CLINVAR | ||||||||
MUSCULAR DYSTROPHY, CONGENITAL, LMNA-RELATED (disorder)
|
0.800 | CausalMutation | CLINVAR | ||||||||
Hereditary Motor and Sensory-Neuropathy Type II
|
0.700 | CausalMutation | CLINVAR | Phenotype-Genotype Analysis of Chinese Patients with Early-Onset LMNA-Related Muscular Dystrophy. | 26098624 | 2015 | |||||
Hereditary Motor and Sensory-Neuropathy Type II
|
0.700 | CausalMutation | CLINVAR | Cellular microenvironments reveal defective mechanosensing responses and elevated YAP signaling in LMNA-mutated muscle precursors. | 24806962 | 2014 | |||||
Hereditary Motor and Sensory-Neuropathy Type II
|
0.700 | CausalMutation | CLINVAR | Congenital muscular dystrophy with dropped head linked to the LMNA gene in a Brazilian cohort. | 24508248 | 2014 | |||||
Hereditary Motor and Sensory-Neuropathy Type II
|
0.700 | CausalMutation | CLINVAR | Phenotypic intermediate forms overlapping to Emery-Dreifuss and limb girdle muscular dystrophies caused by lamin A/C gene mutations. | 24656463 | 2014 | |||||
Hereditary Motor and Sensory-Neuropathy Type II
|
0.700 | CausalMutation | CLINVAR | Novel LMNA mutations in patients with Emery-Dreifuss muscular dystrophy and functional characterization of four LMNA mutations. | 20848652 | 2011 | |||||
Hereditary Motor and Sensory-Neuropathy Type II
|
0.700 | CausalMutation | CLINVAR | Inflammatory changes in infantile-onset LMNA-associated myopathy. | 21632249 | 2011 | |||||
Hereditary Motor and Sensory-Neuropathy Type II
|
0.700 | CausalMutation | CLINVAR | "Two children with ""dropped head"" syndrome due to lamin A/C mutations." | 20886652 | 2010 | |||||
Hereditary Motor and Sensory-Neuropathy Type II
|
0.700 | CausalMutation | CLINVAR | De novo LMNA mutations cause a new form of congenital muscular dystrophy. | 18551513 | 2008 |