MATR3, matrin 3, 9782

N. diseases: 92; N. variants: 8
Disease: AMYOTROPHIC LATERAL SCLEROSIS 21 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3807521
Disease: AMYOTROPHIC LATERAL SCLEROSIS 21
AMYOTROPHIC LATERAL SCLEROSIS 21 		0.600 Biomarker disease GENOMICS_ENGLAND Matrin 3 variants are frequent in Italian ALS patients. 28029397 2017
CUI: C3807521
Disease: AMYOTROPHIC LATERAL SCLEROSIS 21
AMYOTROPHIC LATERAL SCLEROSIS 21 		0.600 GeneticVariation disease UNIPROT A novel Arg147Trp MATR3 missense mutation in a slowly progressive ALS Italian patient. 26199109 2015
CUI: C3807521
Disease: AMYOTROPHIC LATERAL SCLEROSIS 21
AMYOTROPHIC LATERAL SCLEROSIS 21 		0.600 GeneticVariation disease UNIPROT Mutational analysis of MATR3 in Taiwanese patients with amyotrophic lateral sclerosis. 25771394 2015
CUI: C3807521
Disease: AMYOTROPHIC LATERAL SCLEROSIS 21
AMYOTROPHIC LATERAL SCLEROSIS 21 		0.600 GeneticVariation disease UNIPROT Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis. 24686783 2014
CUI: C3807521
Disease: AMYOTROPHIC LATERAL SCLEROSIS 21
AMYOTROPHIC LATERAL SCLEROSIS 21 		0.600 Biomarker disease GENOMICS_ENGLAND Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis. 24686783 2014
CUI: C3807521
Disease: AMYOTROPHIC LATERAL SCLEROSIS 21
AMYOTROPHIC LATERAL SCLEROSIS 21 		0.600 Biomarker disease GENOMICS_ENGLAND Autosomal-dominant distal myopathy associated with a recurrent missense mutation in the gene encoding the nuclear matrix protein, matrin 3. 19344878 2009
CUI: C3807521
Disease: AMYOTROPHIC LATERAL SCLEROSIS 21
AMYOTROPHIC LATERAL SCLEROSIS 21 		0.600 GeneticVariation disease UNIPROT Autosomal-dominant distal myopathy associated with a recurrent missense mutation in the gene encoding the nuclear matrix protein, matrin 3. 19344878 2009
CUI: C3807521
Disease: AMYOTROPHIC LATERAL SCLEROSIS 21
AMYOTROPHIC LATERAL SCLEROSIS 21 		0.600 CausalMutation disease CLINVAR
CUI: C3807521
Disease: AMYOTROPHIC LATERAL SCLEROSIS 21
AMYOTROPHIC LATERAL SCLEROSIS 21 		0.600 GeneticVariation disease CLINVAR