DisGeNET - a database of gene-disease associations

Amyotrophic Lateral Sclerosis, C0002736

Variant: rs199474723 ×

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:

rs199474723

rs199474723

SOD1

0.010

GeneticVariation

BEFREE

A novel c.352C>G (L117V) SOD1 mutation was found in two Syrian ALS families living in Europe.

2012