×
Entrez Id:
5630
Gene Symbol:
PRPH
PRPH
Amyotrophic Lateral Sclerosis
0.500
SusceptibilityMutation
ORPHANET
×
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:
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:
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:
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:
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:
5446
Gene Symbol:
PON3
PON3
Amyotrophic Lateral Sclerosis
0.400
GermlineCausalMutation
ORPHANET
Paraoxonase gene mutations in amyotrophic lateral sclerosis.
20582942
2010
×
Entrez Id:
5445
Gene Symbol:
PON2
PON2
Amyotrophic Lateral Sclerosis
0.400
GermlineCausalMutation
ORPHANET
Paraoxonase gene mutations in amyotrophic lateral sclerosis.
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:
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:
5216
Gene Symbol:
PFN1
PFN1
Amyotrophic Lateral Sclerosis
0.500
GermlineCausalMutation
ORPHANET
Cells expressing PFN1 mutants contain ubiquitinated, insoluble aggregates that in many cases contain the ALS -associated protein TDP-43.
22801503
2012
×
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:
25978
Gene Symbol:
CHMP2B
CHMP2B
Amyotrophic Lateral Sclerosis
0.680
GermlineCausalMutation
ORPHANET
Genetic overlap between apparently sporadic motor neuron diseases.
23155438
2012
×
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:
5216
Gene Symbol:
PFN1
PFN1
Amyotrophic Lateral Sclerosis
0.500
GermlineCausalMutation
ORPHANET
In this study, we investigated the mutation spectrum of PFN1 in Chinese patients with ALS .
23428184
2013
×
Entrez Id:
3178
Gene Symbol:
HNRNPA1
HNRNPA1
Amyotrophic Lateral Sclerosis
0.500
GermlineCausalMutation
ORPHANET
Mutations in prion-like domains in hnRNPA2B1 and hnRNPA1 cause multisystem proteinopathy and ALS.
23455423
2013
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:
6647
Gene Symbol:
SOD1
SOD1
Amyotrophic Lateral Sclerosis
0.800
GermlineCausalMutation
ORPHANET
Genetics of amyotrophic lateral sclerosis: an update.
23941283
2013
×
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:
1639
Gene Symbol:
DCTN1
DCTN1
Amyotrophic Lateral Sclerosis
0.500
GeneticVariation
ORPHANET
Genetics of amyotrophic lateral sclerosis: an update.
23941283
2013
×
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:
283
Gene Symbol:
ANG
ANG
Amyotrophic Lateral Sclerosis
0.500
GermlineCausalMutation
ORPHANET
Genetics of amyotrophic lateral sclerosis: an update.
23941283
2013
×
Entrez Id:
9217
Gene Symbol:
VAPB
VAPB
Amyotrophic Lateral Sclerosis
0.500
GermlineCausalMutation
ORPHANET
Genetics of amyotrophic lateral sclerosis: an update.
23941283
2013
×
Entrez Id:
5445
Gene Symbol:
PON2
PON2
Amyotrophic Lateral Sclerosis
0.400
GermlineCausalMutation
ORPHANET
Genetics of amyotrophic lateral sclerosis: an update.
23941283
2013
×
Entrez Id:
5446
Gene Symbol:
PON3
PON3
Amyotrophic Lateral Sclerosis
0.400
GermlineCausalMutation
ORPHANET
Genetics of amyotrophic lateral sclerosis: an update.
23941283
2013