DisGeNET - a database of gene-disease associations

AMYOTROPHIC LATERAL SCLEROSIS 1, AUTOSOMAL RECESSIVE, C3542025

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

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs12608932

UNC13A

0.700

GeneticVariation

GWASCAT

Cross-ethnic meta-analysis identifies association of the GPX3-TNIP1 locus with amyotrophic lateral sclerosis.

28931804

2017

dbSNP:

rs35714695

SARM1

0.700

GeneticVariation

GWASCAT

Cross-ethnic meta-analysis identifies association of the GPX3-TNIP1 locus with amyotrophic lateral sclerosis.

28931804

2017

dbSNP:

rs3849943

C9orf72 ; LOC107987057

0.700

GeneticVariation

GWASCAT

Cross-ethnic meta-analysis identifies association of the GPX3-TNIP1 locus with amyotrophic lateral sclerosis.

28931804

2017

dbSNP:

rs616147

MOBP

0.700

GeneticVariation

GWASCAT

Cross-ethnic meta-analysis identifies association of the GPX3-TNIP1 locus with amyotrophic lateral sclerosis.

28931804

2017