Source: ORPHANET

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 283
Gene Symbol: ANG
ANG
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		0.500 GermlineCausalMutation ORPHANET Genetics of amyotrophic lateral sclerosis: an update. 23941283

2013
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: 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: 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: 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: 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: 400916
Gene Symbol: CHCHD10
CHCHD10
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		0.500 GermlineCausalMutation ORPHANET Reply: Mutations in the CHCHD10 gene are a common cause of familial amyotrophic lateral sclerosis. 25261971

2014
Entrez Id: 400916
Gene Symbol: CHCHD10
CHCHD10
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		0.500 GermlineCausalMutation ORPHANET Reply: Are CHCHD10 mutations indeed associated with familial amyotrophic lateral sclerosis? 25348633

2014
Entrez Id: 400916
Gene Symbol: CHCHD10
CHCHD10
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		0.500 GermlineCausalMutation ORPHANET Two novel mutations in conserved codons indicate that CHCHD10 is a gene associated with motor neuron disease. 25113787

2014
Entrez Id: 400916
Gene Symbol: CHCHD10
CHCHD10
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		0.500 GermlineCausalMutation ORPHANET Reply: Two novel mutations in conserved codons indicate that CHCHD10 is a gene associated with motor neuron disease. 25113788

2014
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: 400916
Gene Symbol: CHCHD10
CHCHD10
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		0.500 GermlineCausalMutation ORPHANET Mutations in the CHCHD10 gene are a common cause of familial amyotrophic lateral sclerosis. 25261972

2014
Entrez Id: 400916
Gene Symbol: CHCHD10
CHCHD10
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		0.500 GermlineCausalMutation ORPHANET This study demonstrates the implication of CHCHD10 in FTD and ALS spectrum. 25155093

2014
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: 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: 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: 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: 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: 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: 2066
Gene Symbol: ERBB4
ERBB4
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		0.430 GermlineCausalMutation ORPHANET This study indicates that disruption of the neuregulin-ErbB4 pathway is involved in the pathogenesis of ALS and potentially paves the way for the development of innovative therapeutic strategies such using NRGs or their agonists to upregulate ErbB4 functions. 24119685

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: 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: 2733
Gene Symbol: GLE1
GLE1
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		0.430 GermlineCausalMutation ORPHANET These results suggest a haploinsufficiency mechanism and point to a causative role for GLE1 mutations in ALS patients. 25343993

2015
Entrez Id: 55830
Gene Symbol: GLT8D1
GLT8D1
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		0.430 SusceptibilityMutation ORPHANET Mutated GLT8D1 exhibits in vitro cytotoxicity and induces motor deficits in zebrafish consistent with ALS. 30811981

2019