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: 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: 29110
Gene Symbol: TBK1
TBK1
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		0.700 SusceptibilityMutation ORPHANET TBK1 is known to bind to and phosphorylate a number of proteins involved in innate immunity and autophagy, including optineurin (OPTN) and p62 (SQSTM1/sequestosome), both of which have also been implicated in ALS. 25700176

2015
Entrez Id: 311
Gene Symbol: ANXA11
ANXA11
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		0.440 GermlineCausalMutation ORPHANET Annexin A11-positive protein aggregates were abundant in spinal cord motor neurons and hippocampal neuronal axons in an ALS patient carrying the p.D40G mutation. 28469040

2017
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: 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: 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: 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: 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
Entrez Id: 29978
Gene Symbol: UBQLN2
UBQLN2
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		0.500 GermlineCausalMutation ORPHANET Amyotrophic lateral sclerosis: an update on recent genetic insights. 24085347

2013
Entrez Id: 5216
Gene Symbol: PFN1
PFN1
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		0.500 GermlineCausalMutation ORPHANET Amyotrophic lateral sclerosis: an update on recent genetic insights. 24085347

2013
Entrez Id: 9896
Gene Symbol: FIG4
FIG4
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		0.420 GermlineCausalMutation ORPHANET Amyotrophic lateral sclerosis: an update on recent genetic insights. 24085347

2013
Entrez Id: 400916
Gene Symbol: CHCHD10
CHCHD10
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		0.500 GermlineCausalMutation ORPHANET Are CHCHD10 mutations indeed associated with familial amyotrophic lateral sclerosis? 25348631

2014
Entrez Id: 755
Gene Symbol: CFAP410
CFAP410
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		0.620 GermlineCausalMutation ORPHANET Axial Spondylometaphyseal Dysplasia Is Caused by C21orf2 Mutations. 26974433

2016
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: 899
Gene Symbol: CCNF
CCNF
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		0.460 GermlineCausalMutation ORPHANET Enrichment of rare protein-altering CCNF variants was evident in a large sporadic ALS replication cohort. 27080313

2016
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: 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: 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: 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: 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: 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