Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 9782
Gene Symbol: MATR3
MATR3
0.400 GeneticVariation group BEFREE To understand how mutations in Matrin 3 (MATR3) cause amyotrophic lateral sclerosis (ALS) and distal myopathy, we used transcriptome and interactome analysis, coupled with microscopy. 29511296 2018
Entrez Id: 9782
Gene Symbol: MATR3
MATR3
0.400 GeneticVariation group BEFREE Mutations in MATR3 have been associated with amyotrophic lateral sclerosis (ALS) as well as a form of distal myopathy termed vocal cord pharyngeal distal myopathy (VCPDM). 30563574 2018
Entrez Id: 9782
Gene Symbol: MATR3
MATR3
0.400 GeneticVariation group BEFREE The MATR3 gene is mutated in a form of distal myopathy and amyotrophic lateral sclerosis (ALS). 28977530 2017
Entrez Id: 9782
Gene Symbol: MATR3
MATR3
0.400 GeneticVariation group BEFREE The p.S85C MATR3 variant was previously associated to a different phenotype, namely a distal myopathy associated with dysphagia and dysphonia. 28029397 2017
Entrez Id: 9782
Gene Symbol: MATR3
MATR3
0.400 GeneticVariation group BEFREE Impairment of respiratory function in late-onset distal myopathy due to MATR3 Mutation. 25677933 2015
Entrez Id: 9782
Gene Symbol: MATR3
MATR3
0.400 GeneticVariation group BEFREE Subcellular Localization of Matrin 3 Containing Mutations Associated with ALS and Distal Myopathy. 26528920 2015
Entrez Id: 9782
Gene Symbol: MATR3
MATR3
0.400 GeneticVariation group BEFREE Recently, mutations in the matrin 3 (MATR3) gene were described in both ALS and autosomal dominant distal myopathy with vocal cord and pharyngeal weakness. 25523636 2015
Entrez Id: 9782
Gene Symbol: MATR3
MATR3
0.400 GeneticVariation group BEFREE Sixteen patients from 6 families with late onset distal myopathy associated with the p.S85C MATR3 mutation were characterized. 25154462 2014
Entrez Id: 9782
Gene Symbol: MATR3
MATR3
0.400 GeneticVariation group BEFREE Our own study on 42 patients with distal myopathy including 15 patients from six families with matrin-3 mutation suggests that in distal myopathies (1) there seem to be no monogenetic classical phenotypes; (2) there are phenotypes with different genotypes and (3) phenotypes with genotypes that are usually associated with other than distal phenotypes. 23842731 2013
Entrez Id: 9782
Gene Symbol: MATR3
MATR3
0.400 GeneticVariation group BEFREE One type of adult-onset, progressive autosomal-dominant distal myopathy, frequently associated with dysphagia and dysphonia (vocal cord and pharyngeal weakness with distal myopathy [VCPDM]), has been mapped to chromosome 5q31 in a North American pedigree. 19344878 2009
Entrez Id: 9782
Gene Symbol: MATR3
MATR3
0.400 Biomarker group GENOMICS_ENGLAND