×
Entrez Id: 1639
Gene Symbol: DCTN1
DCTN1
AMYOTROPHIC LATERAL SCLEROSIS 1
0.700
Biomarker
CTD_human
×
Entrez Id: 1639
Gene Symbol: DCTN1
DCTN1
AMYOTROPHIC LATERAL SCLEROSIS 1
0.700
Biomarker
GENOMICS_ENGLAND
×
Entrez Id: 4744
Gene Symbol: NEFH
NEFH
AMYOTROPHIC LATERAL SCLEROSIS 1
0.300
Biomarker
CTD_human
×
Entrez Id: 5630
Gene Symbol: PRPH
PRPH
AMYOTROPHIC LATERAL SCLEROSIS 1
0.300
Biomarker
CTD_human
×
Entrez Id: 6623
Gene Symbol: SNCG
SNCG
AMYOTROPHIC LATERAL SCLEROSIS 1
0.200
Biomarker
MGD
×
Entrez Id: 6647
Gene Symbol: SOD1
SOD1
AMYOTROPHIC LATERAL SCLEROSIS 1
1.000
GeneticVariation
UNIPROT
"""Sporadic"" motoneuron disease due to familial SOD1 mutation with low penetrance."
7997024 1995
×
Entrez Id: 6647
Gene Symbol: SOD1
SOD1
AMYOTROPHIC LATERAL SCLEROSIS 1
1.000
CausalMutation
CLINVAR
"""Sporadic"" motoneuron disease due to familial SOD1 mutation with low penetrance."
7997024 1995
×
Entrez Id: 6647
Gene Symbol: SOD1
SOD1
AMYOTROPHIC LATERAL SCLEROSIS 1
1.000
GeneticVariation
UNIPROT
"""True"" sporadic ALS associated with a novel SOD-1 mutation."
12402272 2002
×
Entrez Id: 6647
Gene Symbol: SOD1
SOD1
AMYOTROPHIC LATERAL SCLEROSIS 1
1.000
CausalMutation
CLINVAR
"Hereditary motor neuron disease in a large Norwegian family with a ""H46R"" substitution in the superoxide dismutase 1 gene."
22475618 2012
×
Entrez Id: 6647
Gene Symbol: SOD1
SOD1
AMYOTROPHIC LATERAL SCLEROSIS 1
1.000
Biomarker
BEFREE
SOD-1 associated FALS mutants may have an altered radiation response due to an enhanced generation of hydroxyl radicals or a compromised ability to neutralize free radicals.10385054 1999
×
Entrez Id: 6647
Gene Symbol: SOD1
SOD1
AMYOTROPHIC LATERAL SCLEROSIS 1
1.000
GeneticVariation
BEFREE
Superoxide dismutase 1 (SOD1 ) gene mutations are shown to be associated with about 20% of familial ALS (FALS ) patients.10425565 1999
×
Entrez Id: 6647
Gene Symbol: SOD1
SOD1
AMYOTROPHIC LATERAL SCLEROSIS 1
1.000
GeneticVariation
BEFREE
Superoxide dismutase 1 (SOD1 ) proteins harboring mutations linked to familial amyotrophic lateral sclerosis (FALS ) uniformly show heightened potential to form high molecular weight structures.16441516 2006
×
Entrez Id: 847
Gene Symbol: CAT
CAT
AMYOTROPHIC LATERAL SCLEROSIS 1
0.020
AlteredExpression
BEFREE
CAT activity was decreased in both SALS and FALS patients.16681429 2006
×
Entrez Id: 22920
Gene Symbol: KIFAP3
KIFAP3
AMYOTROPHIC LATERAL SCLEROSIS 1
0.010
Biomarker
BEFREE
KAP3 was incorporated into SOD1 aggregates in human FALS cases as well.19088126 2009
×
Entrez Id: 6647
Gene Symbol: SOD1
SOD1
AMYOTROPHIC LATERAL SCLEROSIS 1
1.000
GeneticVariation
BEFREE
SOD1 mutation frequency was found to be significantly lower in The Netherlands compared with other countries with p=0.0004 for FALS (21.9% vs 2.5%) and p=0.005 for SALS (2.5% vs 0.44%).19965850 2010
×
Entrez Id: 2521
Gene Symbol: FUS
FUS
AMYOTROPHIC LATERAL SCLEROSIS 1
0.100
GeneticVariation
BEFREE
FUS mutation analysis was performed using capillary sequencing on all coding regions of the gene in a cohort of patients with FALS .20142531 2010
×
Entrez Id: 2521
Gene Symbol: FUS
FUS
AMYOTROPHIC LATERAL SCLEROSIS 1
0.100
Biomarker
BEFREE
FUS -immunoreactive inclusions were observed in spinal anterior horn neurons in all SALS and FALS cases, except for those with SOD1 mutations.20517935 2010
×
Entrez Id: 3605
Gene Symbol: IL17A
IL17A
AMYOTROPHIC LATERAL SCLEROSIS 1
0.010
Biomarker
BEFREE
IL-17A serum concentrations were 5767 ± 2700 pg/ml (mean ± SEM) in sALS patients and 937 ± 927 pg/ml in fALS patients in comparison to 7 ± 2 pg/ml in control subjects without autoimmune disorders (p = 0.008 ALS patients vs. control subjects by Mann-Whitney test).21062492 2010
×
Entrez Id: 2521
Gene Symbol: FUS
FUS
AMYOTROPHIC LATERAL SCLEROSIS 1
0.100
GeneticVariation
BEFREE
Fused in sarcoma (FUS ) was found to be responsible for a previously identified ALS6 locus, being mutated in both FALS and SALS patients.23559573 2013
×
Entrez Id: 9217
Gene Symbol: VAPB
VAPB
AMYOTROPHIC LATERAL SCLEROSIS 1
0.020
GeneticVariation
BEFREE
VAPB mutation (P56S ) was highly prevalent in Brazilian FALS patients.27978769 2017
×
Entrez Id: 7074
Gene Symbol: TIAM1
TIAM1
AMYOTROPHIC LATERAL SCLEROSIS 1
0.310
Biomarker
BEFREE
T-cell lymphoma invasion and metastasis 1 (TIAM1 ) is known to be associated with amyotrophic lateral sclerosis 1 and colorectal cancer; however, its role in IPF is unclear.29067109 2017
×
Entrez Id: 6647
Gene Symbol: SOD1
SOD1
AMYOTROPHIC LATERAL SCLEROSIS 1
1.000
GeneticVariation
BEFREE
Cu,Zn-superoxide dismutase (SOD ) is known to be a locus of mutation in familial amyotrophic lateral sclerosis (FALS ).8650157 1996
×
Entrez Id: 6647
Gene Symbol: SOD1
SOD1
AMYOTROPHIC LATERAL SCLEROSIS 1
1.000
GeneticVariation
BEFREE
Cu,Zn-superoxide dismutase (SOD ) is known to be a locus of mutation in familial amyotrophic lateral sclerosis (FALS ).9749537 1998
×
Entrez Id: 6647
Gene Symbol: SOD1
SOD1
AMYOTROPHIC LATERAL SCLEROSIS 1
1.000
CausalMutation
CLINVAR
A common property of amyotrophic lateral sclerosis-associated variants: destabilization of the copper/zinc superoxide dismutase electrostatic loop.
19635794 2009
×
Entrez Id: 6647
Gene Symbol: SOD1
SOD1
AMYOTROPHIC LATERAL SCLEROSIS 1
1.000
Biomarker
BEFREE
A drug-like molecule that could stabilize the A4V dimer could slow the onset and progression of FALS .
15109247 2004