DisGeNET - a database of gene-disease associations

SOD1, superoxide dismutase 1, 6647

N. diseases: 689; N. variants: 68

Disease: Amyotrophic Lateral Sclerosis ×

Variant: rs567432143 ×

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:

rs567432143

Entrez Id:	6647
Gene Symbol:	SOD1

SOD1

CUI:	C0002736
Disease:

Amyotrophic Lateral Sclerosis

0.010

GeneticVariation

BEFREE

Identification of a novel D109Y mutation in Cu/Zn superoxide dismutase (sod1) gene associated with amyotrophic lateral sclerosis.

17257622

2007