DisGeNET - a database of gene-disease associations

Source: GWASDB

Disease: Amyotrophic Lateral Sclerosis ×

Variant: rs2814707 ×

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:

rs2814707

C9orf72 ; LOC107987057 ; LOC112268043

CUI:	C0002736
Disease:	Amyotrophic Lateral Sclerosis

Amyotrophic Lateral Sclerosis

0.830

GeneticVariation

GWASDB

Residual association at C9orf72 suggests an alternative amyotrophic lateral sclerosis-causing hexanucleotide repeat.

23587638

2013

dbSNP:

rs2814707

C9orf72 ; LOC107987057 ; LOC112268043

CUI:	C0002736
Disease:	Amyotrophic Lateral Sclerosis

Amyotrophic Lateral Sclerosis

0.830

GeneticVariation

GWASDB

Chromosome 9p21 in amyotrophic lateral sclerosis in Finland: a genome-wide association study.

20801718

2010

dbSNP:

rs2814707

C9orf72 ; LOC107987057 ; LOC112268043

CUI:	C0002736
Disease:	Amyotrophic Lateral Sclerosis

Amyotrophic Lateral Sclerosis

0.830

GeneticVariation

GWASDB

Genome-wide association study identifies 19p13.3 (UNC13A) and 9p21.2 as susceptibility loci for sporadic amyotrophic lateral sclerosis.

19734901

2009