MATR3, matrin 3, 9782

N. diseases: 92; N. variants: 8
Disease: Hoarseness ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0019825
Disease: Hoarseness
Hoarseness 		0.120 GeneticVariation phenotype BEFREE The p.S85C MATR3 variant was previously associated to a different phenotype, namely a distal myopathy associated with dysphagia and dysphonia. 28029397 2017
CUI: C0019825
Disease: Hoarseness
Hoarseness 		0.120 GeneticVariation phenotype 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
CUI: C0019825
Disease: Hoarseness
Hoarseness 		0.120 Biomarker phenotype HPO