| Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.100 | GeneticVariation | disease | CLINVAR | Diagnosis of late-onset Pompe disease and other muscle disorders by next-generation sequencing. | 26809617 | 2016 | ||||
|
0.100 | CausalMutation | disease | CLINVAR | Enhanced utility of family-centered diagnostic exome sequencing with inheritance model-based analysis: results from 500 unselected families with undiagnosed genetic conditions. | 25356970 | 2015 | ||||
|
0.100 | CausalMutation | disease | CLINVAR | Nemaline myopathy type 2 (NEM2): two novel mutations in the nebulin (NEB) gene. | 24056153 | 2015 | ||||
|
0.100 | CausalMutation | disease | CLINVAR | Epigenetic changes as a common trigger of muscle weakness in congenital myopathies. | 26019235 | 2015 | ||||
|
0.100 | GeneticVariation | disease | CLINVAR | Mutation update: the spectra of nebulin variants and associated myopathies. | 25205138 | 2014 | ||||
|
0.100 | CausalMutation | disease | CLINVAR | Mutation update: the spectra of nebulin variants and associated myopathies. | 25205138 | 2014 | ||||
|
0.100 | GeneticVariation | disease | CLINVAR | Identification of 45 novel mutations in the nebulin gene associated with autosomal recessive nemaline myopathy. | 16917880 | 2006 | ||||
|
0.100 | CausalMutation | disease | CLINVAR | Identification of 45 novel mutations in the nebulin gene associated with autosomal recessive nemaline myopathy. | 16917880 | 2006 | ||||
|
0.100 | GeneticVariation | disease | CLINVAR | Genotype-phenotype correlations in nemaline myopathy caused by mutations in the genes for nebulin and skeletal muscle alpha-actin. | 15336686 | 2004 | ||||
|
0.100 | CausalMutation | disease | CLINVAR | Genotype-phenotype correlations in nemaline myopathy caused by mutations in the genes for nebulin and skeletal muscle alpha-actin. | 15336686 | 2004 | ||||
|
0.100 | CausalMutation | disease | CLINVAR | Nebulin mutations in autosomal recessive nemaline myopathy: an update. | 12207938 | 2002 |