DisGeNET - a database of gene-disease associations

Amyotrophic Lateral Sclerosis, C0002736

Variant: rs765162614 ×

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:

rs765162614

PAX7

0.020

GeneticVariation

BEFREE

Genetic biomarkers for ALS disease in transgenic SOD1(G93A) mice.

22412900

2012

dbSNP:

rs765162614

PAX7

0.020

GeneticVariation

BEFREE

In the superoxide dismutase 1 (SOD1)-G93A mouse model of amyotrophic lateral sclerosis (ALS), skeletal muscle is a key target of mutant SOD1 toxicity.

21346327

2011