DisGeNET - a database of gene-disease associations

MATR3, matrin 3, 9782

N. diseases: 92; N. variants: 8

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs121434591

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:

rs121434591

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:

rs587777300

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:

rs587777300

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

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

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:

rs587777302

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:

rs587777302

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:

rs121434591

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:

rs587777300

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

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:

rs587777302

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:

rs121434591

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:

rs587777300

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

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:

rs587777302

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:

rs121434591

Entrez Id:	9782
Gene Symbol:	MATR3

MATR3

CUI:	C3807521
Disease:

AMYOTROPHIC LATERAL SCLEROSIS 21

0.800

CausalMutation

CLINVAR

dbSNP:

rs121434591

Entrez Id:	9782
Gene Symbol:	MATR3

MATR3

CUI:	C3807521
Disease:

AMYOTROPHIC LATERAL SCLEROSIS 21

0.800

GeneticVariation

CLINVAR

dbSNP:

rs587777300

Entrez Id:	9782
Gene Symbol:	MATR3

MATR3

CUI:	C3807521
Disease:

AMYOTROPHIC LATERAL SCLEROSIS 21

0.800

CausalMutation

CLINVAR

dbSNP:

rs587777301

Entrez Id:	9782
Gene Symbol:	MATR3

MATR3

CUI:	C3807521
Disease:

AMYOTROPHIC LATERAL SCLEROSIS 21

0.800

CausalMutation

CLINVAR

dbSNP:

rs587777302

Entrez Id:	9782
Gene Symbol:	MATR3

MATR3

CUI:	C3807521
Disease:

AMYOTROPHIC LATERAL SCLEROSIS 21

0.800

CausalMutation

CLINVAR

dbSNP:

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

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

dbSNP:

rs1271177846

Entrez Id:	9782
Gene Symbol:	MATR3

MATR3

CUI:	C0002736
Disease:

Amyotrophic Lateral Sclerosis

0.010

GeneticVariation

BEFREE

Two novel heterozygous missense mutations in CCNF, p.S222P (c.664T>C) and p.S532R (c.1596C>T), were identified; 1 in each patient with apparently sporadic ALS.

29102476

2018

dbSNP:

rs755642199

Entrez Id:	9782
Gene Symbol:	MATR3

MATR3

CUI:	C0270764
Disease:

Motor Neuron Disease, Lower

0.010

GeneticVariation

BEFREE

One female patient was found to carry the D348G mutation in MAPT, previously reported in an Italian family with lower motor neuron disease.

30893702

2018