DisGeNET - a database of gene-disease associations

Gene: MATR3 ×

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Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _g

DPI _g

pLI

EI _gda

EL _gda

Score _gda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Gene

Disease

Score _gda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

Entrez Id:	9782
Gene Symbol:	MATR3

MATR3

CUI:	C0002736
Disease:	Amyotrophic Lateral Sclerosis

Amyotrophic Lateral Sclerosis

0.700

GermlineCausalMutation

ORPHANET

We also observed MATR3 pathology in ALS-affected spinal cords with and without MATR3 mutations.

2014