Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6647
Gene Symbol: SOD1
SOD1 		1.000 GeneticVariation disease CLINVAR A familial ALS case carrying a novel p.G147C SOD1 heterozygous missense mutation with non-executive cognitive impairment. 24769475 2014
Entrez Id: 6647
Gene Symbol: SOD1
SOD1 		1.000 CausalMutation disease CLINVAR A frequent ala 4 to val superoxide dismutase-1 mutation is associated with a rapidly progressive familial amyotrophic lateral sclerosis. 7951249 1994
Entrez Id: 5444
Gene Symbol: PON1
PON1 		0.300 Biomarker disease CTD_human A gene-environment study of the paraoxonase 1 gene and pesticides in amyotrophic lateral sclerosis. 17204329 2007
Entrez Id: 203228
Gene Symbol: C9orf72
C9orf72 		0.150 GeneticVariation disease GWASCAT A genome-wide association meta-analysis identifies a novel locus at 17q11.2 associated with sporadic amyotrophic lateral sclerosis. 24256812 2014
Entrez Id: 284085
Gene Symbol: KRT18P55
KRT18P55 		0.100 GeneticVariation disease GWASCAT A genome-wide association meta-analysis identifies a novel locus at 17q11.2 associated with sporadic amyotrophic lateral sclerosis. 24256812 2014
Entrez Id: 10133
Gene Symbol: OPTN
OPTN 		0.030 GeneticVariation disease BEFREE A group of 274 ALS patients, including 161 familial (FALS) and 113 sporadic (SALS) cases, were screened for OPTN mutations by direct sequencing of its coding sequence. 21613650 2011
Entrez Id: 6647
Gene Symbol: SOD1
SOD1 		1.000 GeneticVariation disease BEFREE A missense mutation (Gly93-->Ser) was identified in exon 4 of the Cu/Zn superoxide dismutase (SOD1) gene of a 48-year-old Japanese man with familial amyotrophic lateral sclerosis (FALS). 9455983 1997
Entrez Id: 6647
Gene Symbol: SOD1
SOD1 		1.000 GeneticVariation disease UNIPROT A missense mutation in the SOD1 gene in patients with amyotrophic lateral sclerosis from the Kii Peninsula and its vicinity, Japan. 10732812 1997
Entrez Id: 1639
Gene Symbol: DCTN1
DCTN1 		0.700 CausalMutation disease CLINVAR A motor neuron disease-associated mutation in p150Glued perturbs dynactin function and induces protein aggregation. 16505168 2006
Entrez Id: 56893
Gene Symbol: UBQLN4
UBQLN4 		0.300 GeneticVariation disease UNIPROT A novel ALS-associated variant in UBQLN4 regulates motor axon morphogenesis. 28463112 2017
Entrez Id: 6647
Gene Symbol: SOD1
SOD1 		1.000 GeneticVariation disease UNIPROT A novel L67P SOD1 mutation in an Italian ALS patient. 21247266 2011
Entrez Id: 6647
Gene Symbol: SOD1
SOD1 		1.000 GeneticVariation disease UNIPROT A novel missense point mutation (S134N) of the Cu/Zn superoxide dismutase gene in a patient with familial motor neuron disease. 8990014 1997
Entrez Id: 6647
Gene Symbol: SOD1
SOD1 		1.000 CausalMutation disease CLINVAR A novel monoclonal antibody reveals a conformational alteration shared by amyotrophic lateral sclerosis-linked SOD1 mutants. 23280792 2012
Entrez Id: 6648
Gene Symbol: SOD2
SOD2 		0.210 Biomarker disease MGD A novel neurological phenotype in mice lacking mitochondrial manganese superoxide dismutase. 9462746 1998
Entrez Id: 6647
Gene Symbol: SOD1
SOD1 		1.000 GeneticVariation disease UNIPROT A novel point mutation in the Cu/Zn superoxide dismutase gene in a patient with familial amyotrophic lateral sclerosis. 7795609 1995
Entrez Id: 6647
Gene Symbol: SOD1
SOD1 		1.000 GeneticVariation disease UNIPROT A novel SOD mutant and ALS. 7700376 1995
Entrez Id: 6647
Gene Symbol: SOD1
SOD1 		1.000 GeneticVariation disease UNIPROT A novel SOD1 gene mutation in familial ALS with low penetrance in females. 11535232 2001
Entrez Id: 6647
Gene Symbol: SOD1
SOD1 		1.000 GeneticVariation disease UNIPROT A novel SOD1 mutation in an Austrian family with amyotrophic lateral sclerosis. 9131652 1997
Entrez Id: 6647
Gene Symbol: SOD1
SOD1 		1.000 Biomarker disease MGD A novel SOD1-ALS mutation separates central and peripheral effects of mutant SOD1 toxicity. 25468678 2015
Entrez Id: 6647
Gene Symbol: SOD1
SOD1 		1.000 GeneticVariation disease UNIPROT A novel two-base mutation in the Cu/Zn superoxide dismutase gene associated with familial amyotrophic lateral sclerosis in Japan. 8907321 1996
Entrez Id: 9217
Gene Symbol: VAPB
VAPB 		0.020 GeneticVariation disease BEFREE A point mutation (P56S) in the vapb gene encoding an endoplasmic reticulum (ER)-integrated membrane protein [vesicle-associated membrane protein-associated protein B (VAPB)] causes autosomal-dominant amyotrophic lateral sclerosis. 19183264 2009
Entrez Id: 6647
Gene Symbol: SOD1
SOD1 		1.000 GeneticVariation disease UNIPROT A SOD1 gene mutation in a patient with slowly progressing familial ALS. 10430435 1999
Entrez Id: 6647
Gene Symbol: SOD1
SOD1 		1.000 GeneticVariation disease BEFREE A transgenic (Tg) mouse model of FALS containing 25 copies of the mutant human SOD1 gene demonstrates motor neuron pathology and progressive weakness similar to ALS patients, leading to death at approximately 130 days. 24945277 2014
Entrez Id: 6647
Gene Symbol: SOD1
SOD1 		1.000 CausalMutation disease CLINVAR Age and founder effect of SOD1 A4V mutation causing ALS. 19176896 2009
Entrez Id: 6647
Gene Symbol: SOD1
SOD1 		1.000 GeneticVariation disease UNIPROT ALS mutants of human superoxide dismutase form fibrous aggregates via framework destabilization. 12963370 2003