MATR3, matrin 3, 9782

N. diseases: 92; N. variants: 8
Disease: AMYOTROPHIC LATERAL SCLEROSIS 21 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587777301
rs587777301
Entrez Id: 9782
Gene Symbol: MATR3
MATR3
CUI: C3807521
Disease:
AMYOTROPHIC LATERAL SCLEROSIS 21 		0.800 GeneticVariation UNIPROT Mutational analysis of MATR3 in Taiwanese patients with amyotrophic lateral sclerosis. 25771394 2015
dbSNP: rs587777301
rs587777301
Entrez Id: 9782
Gene Symbol: MATR3
MATR3
CUI: C3807521
Disease:
AMYOTROPHIC LATERAL SCLEROSIS 21 		0.800 GeneticVariation UNIPROT A novel Arg147Trp MATR3 missense mutation in a slowly progressive ALS Italian patient. 26199109 2015
dbSNP: rs587777301
rs587777301
Entrez Id: 9782
Gene Symbol: MATR3
MATR3
CUI: C3807521
Disease:
AMYOTROPHIC LATERAL SCLEROSIS 21 		0.800 GeneticVariation UNIPROT Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis. 24686783 2014
dbSNP: rs587777301
rs587777301
Entrez Id: 9782
Gene Symbol: MATR3
MATR3
CUI: C3807521
Disease:
AMYOTROPHIC LATERAL SCLEROSIS 21 		0.800 GeneticVariation UNIPROT Autosomal-dominant distal myopathy associated with a recurrent missense mutation in the gene encoding the nuclear matrix protein, matrin 3. 19344878 2009
dbSNP: rs587777301
rs587777301
Entrez Id: 9782
Gene Symbol: MATR3
MATR3
CUI: C3807521
Disease:
AMYOTROPHIC LATERAL SCLEROSIS 21 		G 0.800 CausalMutation CLINVAR