Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1639
Gene Symbol: DCTN1
DCTN1 		0.700 Biomarker disease CTD_human
Entrez Id: 1639
Gene Symbol: DCTN1
DCTN1 		0.700 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 4744
Gene Symbol: NEFH
NEFH 		0.300 Biomarker disease CTD_human
Entrez Id: 5630
Gene Symbol: PRPH
PRPH 		0.300 Biomarker disease CTD_human
Entrez Id: 6623
Gene Symbol: SNCG
SNCG 		0.200 Biomarker disease MGD
Entrez Id: 6647
Gene Symbol: SOD1
SOD1 		1.000 GeneticVariation disease UNIPROT """Sporadic"" motoneuron disease due to familial SOD1 mutation with low penetrance." 7997024 1995
Entrez Id: 6647
Gene Symbol: SOD1
SOD1 		1.000 CausalMutation disease CLINVAR """Sporadic"" motoneuron disease due to familial SOD1 mutation with low penetrance." 7997024 1995
Entrez Id: 6647
Gene Symbol: SOD1
SOD1 		1.000 GeneticVariation disease UNIPROT """True"" sporadic ALS associated with a novel SOD-1 mutation." 12402272 2002
Entrez Id: 6647
Gene Symbol: SOD1
SOD1 		1.000 CausalMutation disease 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 		1.000 Biomarker disease 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 		1.000 GeneticVariation disease 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 		1.000 GeneticVariation disease 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 		0.020 AlteredExpression disease BEFREE CAT activity was decreased in both SALS and FALS patients. 16681429 2006
Entrez Id: 22920
Gene Symbol: KIFAP3
KIFAP3 		0.010 Biomarker disease BEFREE KAP3 was incorporated into SOD1 aggregates in human FALS cases as well. 19088126 2009
Entrez Id: 6647
Gene Symbol: SOD1
SOD1 		1.000 GeneticVariation disease 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 		0.100 GeneticVariation disease 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 		0.100 Biomarker disease 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 		0.010 Biomarker disease 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 		0.100 GeneticVariation disease 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 		0.020 GeneticVariation disease BEFREE VAPB mutation (P56S) was highly prevalent in Brazilian FALS patients. 27978769 2017
Entrez Id: 7074
Gene Symbol: TIAM1
TIAM1 		0.310 Biomarker disease 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 		1.000 GeneticVariation disease 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 		1.000 GeneticVariation disease 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 		1.000 CausalMutation disease 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 		1.000 Biomarker disease BEFREE A drug-like molecule that could stabilize the A4V dimer could slow the onset and progression of FALS. 15109247 2004