MATR3, matrin 3, 9782

N. diseases: 92; N. variants: 8
Disease: Distal Muscular Dystrophies ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121434591
rs121434591
Entrez Id: 9782
Gene Symbol: MATR3
MATR3
CUI: C0751336
Disease:
Distal Muscular Dystrophies 		0.020 GeneticVariation BEFREE The p.S85C MATR3 variant was previously associated to a different phenotype, namely a distal myopathy associated with dysphagia and dysphonia. 28029397 2017
dbSNP: rs121434591
rs121434591
Entrez Id: 9782
Gene Symbol: MATR3
MATR3
CUI: C0751336
Disease:
Distal Muscular Dystrophies 		0.020 GeneticVariation BEFREE Sixteen patients from 6 families with late onset distal myopathy associated with the p.S85C MATR3 mutation were characterized. 25154462 2014