×
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: 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: 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: 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: 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: 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
×
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: 25978
Gene Symbol: CHMP2B
CHMP2B
Amyotrophic Lateral Sclerosis
0.680
GermlineCausalMutation
ORPHANET
Sequencing of CHMP2B in 433 ALS cases from the North of England identified 4 cases carrying 3 missense mutations, including one novel mutation, p.Thr104Asn, none of which were present in 500 neurologically normal controls.
20352044 2010
×
Entrez Id: 25978
Gene Symbol: CHMP2B
CHMP2B
Amyotrophic Lateral Sclerosis
0.680
GermlineCausalMutation
ORPHANET
ALS phenotypes with mutations in CHMP2B (charged multivesicular body protein 2B ).16807408 2006
×
Entrez Id: 25978
Gene Symbol: CHMP2B
CHMP2B
Amyotrophic Lateral Sclerosis
0.680
GermlineCausalMutation
ORPHANET
Genetic overlap between apparently sporadic motor neuron diseases.
23155438 2012
×
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: 1610
Gene Symbol: DAO
DAO
Amyotrophic Lateral Sclerosis
0.670
GermlineCausalMutation
ORPHANET
Familial amyotrophic lateral sclerosis is associated with a mutation in D-amino acid oxidase.
20368421 2010
×
Entrez Id: 1610
Gene Symbol: DAO
DAO
Amyotrophic Lateral Sclerosis
0.670
GermlineCausalMutation
ORPHANET
Amyotrophic lateral sclerosis: an update on recent genetic insights.
24085347 2013
×
Entrez Id: 755
Gene Symbol: CFAP410
CFAP410
Amyotrophic Lateral Sclerosis
0.620
GermlineCausalMutation
ORPHANET
Axial Spondylometaphyseal Dysplasia Is Caused by C21orf2 Mutations.
26974433 2016
×
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