×
Entrez Id: 8148
Gene Symbol: TAF15
TAF15
Amyotrophic Lateral Sclerosis
0.700
GeneticVariation
ORPHANET
Mutational analysis reveals the FUS homolog TAF15 as a candidate gene for familial amyotrophic lateral sclerosis.
21438137 2011
×
Entrez Id: 2043
Gene Symbol: EPHA4
EPHA4
Amyotrophic Lateral Sclerosis
0.500
GeneticVariation
ORPHANET
Furthermore, we found that knockdown of Epha4 also rescues the axonopathy induced by expression of mutant TAR DNA-binding protein 43 (TDP-43), another protein causing familial ALS , and the axonopathy induced by knockdown of survival of motor neuron 1, a model for spinomuscular atrophy.
22922411 2012
×
Entrez Id: 1639
Gene Symbol: DCTN1
DCTN1
Amyotrophic Lateral Sclerosis
0.500
GeneticVariation
ORPHANET
Genetics of amyotrophic lateral sclerosis: an update.
23941283 2013
×
Entrez Id: 6311
Gene Symbol: ATXN2
ATXN2
Amyotrophic Lateral Sclerosis
0.700
SusceptibilityMutation
ORPHANET
Amyotrophic lateral sclerosis: an update on recent genetic insights.
24085347 2013
×
Entrez Id: 23025
Gene Symbol: UNC13A
UNC13A
Amyotrophic Lateral Sclerosis
0.700
SusceptibilityMutation
ORPHANET
Genome-wide association study identifies 19p13.3 (UNC13A) and 9p21.2 as susceptibility loci for sporadic amyotrophic lateral sclerosis.
19734901 2009
×
Entrez Id: 23025
Gene Symbol: UNC13A
UNC13A
Amyotrophic Lateral Sclerosis
0.700
SusceptibilityMutation
ORPHANET
Meta-analysis identified 19 genome-wide significant single nucleotide polymorphisms (SNPs) in C9orf72 on chromosome 9p21.2 (lowest p = 2.6 × 10(-12) ) and 1 SNP in UNC13A on chromosome 19p13.11 (p = 1.0 × 10(-11) ) as shared susceptibility loci for ALS and FTD-TDP.
24931836 2014
×
Entrez Id: 29110
Gene Symbol: TBK1
TBK1
Amyotrophic Lateral Sclerosis
0.700
SusceptibilityMutation
ORPHANET
TBK1 is known to bind to and phosphorylate a number of proteins involved in innate immunity and autophagy, including optineurin (OPTN) and p62 (SQSTM1/sequestosome), both of which have also been implicated in ALS .25700176 2015
×
Entrez Id: 4750
Gene Symbol: NEK1
NEK1
Amyotrophic Lateral Sclerosis
0.680
SusceptibilityMutation
ORPHANET
NEK1 mutations in familial amyotrophic lateral sclerosis.
26945885 2016
×
Entrez Id: 4744
Gene Symbol: NEFH
NEFH
Amyotrophic Lateral Sclerosis
0.500
SusceptibilityMutation
ORPHANET
Genetics of amyotrophic lateral sclerosis: an update.
23941283 2013
×
Entrez Id: 54209
Gene Symbol: TREM2
TREM2
Amyotrophic Lateral Sclerosis
0.500
SusceptibilityMutation
ORPHANET
The TREM2 variant p.R47H was more common in patients with ALS than in the controls and is therefore a significant risk factor for ALS (odds ratio, 2.40; 95% CI, 1.29-4.15; P = 4.1×10-3).
24535663 2014
×
Entrez Id: 5630
Gene Symbol: PRPH
PRPH
Amyotrophic Lateral Sclerosis
0.500
SusceptibilityMutation
ORPHANET
×
Entrez Id: 55830
Gene Symbol: GLT8D1
GLT8D1
Amyotrophic Lateral Sclerosis
0.430
SusceptibilityMutation
ORPHANET
Mutated GLT8D1 exhibits in vitro cytotoxicity and induces motor deficits in zebrafish consistent with ALS .
30811981 2019
PPARGC1A
Amyotrophic Lateral Sclerosis
0.490
GermlineModifyingMutation
ORPHANET
PGC-1α is a male-specific disease modifier of human and experimental amyotrophic lateral sclerosis.
23669350 2013
×
Entrez Id: 203228
Gene Symbol: C9orf72
C9orf72
Amyotrophic Lateral Sclerosis
0.800
GermlineCausalMutation
ORPHANET
Amyotrophic lateral sclerosis: an update on recent genetic insights.
24085347 2013
×
Entrez Id: 6647
Gene Symbol: SOD1
SOD1
Amyotrophic Lateral Sclerosis
0.800
GermlineCausalMutation
ORPHANET
Genetics of amyotrophic lateral sclerosis: an update.
23941283 2013
×
Entrez Id: 8878
Gene Symbol: SQSTM1
SQSTM1
Amyotrophic Lateral Sclerosis
0.700
GermlineCausalMutation
ORPHANET
The presence of mutations in this racial population suggests worldwide, common involvement of the SQSTM1 gene in ALS .
23303844 2013
×
Entrez Id: 8878
Gene Symbol: SQSTM1
SQSTM1
Amyotrophic Lateral Sclerosis
0.700
GermlineCausalMutation
ORPHANET
Amyotrophic lateral sclerosis: an update on recent genetic insights.
24085347 2013
×
Entrez Id: 8878
Gene Symbol: SQSTM1
SQSTM1
Amyotrophic Lateral Sclerosis
0.700
GermlineCausalMutation
ORPHANET
SQSTM1 mutations in Han Chinese populations with sporadic amyotrophic lateral sclerosis.
24138988 2014
×
Entrez Id: 8878
Gene Symbol: SQSTM1
SQSTM1
Amyotrophic Lateral Sclerosis
0.700
GermlineCausalMutation
ORPHANET
Using candidate gene identification based on prior biological knowledge and the functional prediction of rare variants, we identified several novel SQSTM1 mutations in patients with ALS .
22084127 2011
×
Entrez Id: 5444
Gene Symbol: PON1
PON1
Amyotrophic Lateral Sclerosis
0.700
GermlineCausalMutation
ORPHANET
Genetics of amyotrophic lateral sclerosis: an update.
23941283 2013
×
Entrez Id: 2521
Gene Symbol: FUS
FUS
Amyotrophic Lateral Sclerosis
0.700
GermlineCausalMutation
ORPHANET
Amyotrophic lateral sclerosis: an update on recent genetic insights.
24085347 2013
×
Entrez Id: 10133
Gene Symbol: OPTN
OPTN
Amyotrophic Lateral Sclerosis
0.700
GermlineCausalMutation
ORPHANET
Amyotrophic lateral sclerosis: an update on recent genetic insights.
24085347 2013
×
Entrez Id: 5444
Gene Symbol: PON1
PON1
Amyotrophic Lateral Sclerosis
0.700
GermlineCausalMutation
ORPHANET
We now report that in genomic DNA from individuals with familial and sporadic ALS , we have identified at least 7 PON gene mutations that are predicted to alter PON function.
20582942 2010
×
Entrez Id: 23435
Gene Symbol: TARDBP
TARDBP
Amyotrophic Lateral Sclerosis
0.700
GermlineCausalMutation
ORPHANET
TDP-43 is not only a pathological hallmark, but also a genetic cause for ALS .24085347 2013
×
Entrez Id: 9782
Gene Symbol: MATR3
MATR3
Amyotrophic Lateral Sclerosis
0.700
GermlineCausalMutation
ORPHANET
We also observed MATR3 pathology in ALS -affected spinal cords with and without MATR3 mutations.
24686783 2014