Source: ORPHANET

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5630
Gene Symbol: PRPH
PRPH
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		0.500 SusceptibilityMutation ORPHANET

Entrez Id: 25978
Gene Symbol: CHMP2B
CHMP2B
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
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
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
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: 5444
Gene Symbol: PON1
PON1
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
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: 25978
Gene Symbol: CHMP2B
CHMP2B
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
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
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
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: 5446
Gene Symbol: PON3
PON3
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		0.400 GermlineCausalMutation ORPHANET Paraoxonase gene mutations in amyotrophic lateral sclerosis. 20582942

2010
Entrez Id: 5445
Gene Symbol: PON2
PON2
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		0.400 GermlineCausalMutation ORPHANET Paraoxonase gene mutations in amyotrophic lateral sclerosis. 20582942

2010
Entrez Id: 8878
Gene Symbol: SQSTM1
SQSTM1
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
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: 8148
Gene Symbol: TAF15
TAF15
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
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: 25978
Gene Symbol: CHMP2B
CHMP2B
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		0.680 GermlineCausalMutation ORPHANET Genetic overlap between apparently sporadic motor neuron diseases. 23155438

2012
Entrez Id: 2043
Gene Symbol: EPHA4
EPHA4
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
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: 5216
Gene Symbol: PFN1
PFN1
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
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: 203228
Gene Symbol: C9orf72
C9orf72
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
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
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		0.800 GermlineCausalMutation ORPHANET Genetics of amyotrophic lateral sclerosis: an update. 23941283

2013
Entrez Id: 8878
Gene Symbol: SQSTM1
SQSTM1
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
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
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		0.700 GermlineCausalMutation ORPHANET Amyotrophic lateral sclerosis: an update on recent genetic insights. 24085347

2013
Entrez Id: 5444
Gene Symbol: PON1
PON1
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		0.700 GermlineCausalMutation ORPHANET Genetics of amyotrophic lateral sclerosis: an update. 23941283

2013
Entrez Id: 2521
Gene Symbol: FUS
FUS
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
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
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
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
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		0.700 SusceptibilityMutation ORPHANET Amyotrophic lateral sclerosis: an update on recent genetic insights. 24085347

2013
Entrez Id: 23435
Gene Symbol: TARDBP
TARDBP
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
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: 1610
Gene Symbol: DAO
DAO
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		0.670 GermlineCausalMutation ORPHANET Amyotrophic lateral sclerosis: an update on recent genetic insights. 24085347

2013
Entrez Id: 1639
Gene Symbol: DCTN1
DCTN1
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		0.500 GeneticVariation ORPHANET Genetics of amyotrophic lateral sclerosis: an update. 23941283

2013
Entrez Id: 7415
Gene Symbol: VCP
VCP
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		0.500 GermlineCausalMutation ORPHANET Amyotrophic lateral sclerosis: an update on recent genetic insights. 24085347

2013