Source: ORPHANET

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5445
Gene Symbol: PON2
PON2
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		0.400 GermlineCausalMutation ORPHANET Genetics of amyotrophic lateral sclerosis: an update. 23941283

2013
Entrez Id: 5446
Gene Symbol: PON3
PON3
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		0.400 GermlineCausalMutation ORPHANET Genetics of amyotrophic lateral sclerosis: an update. 23941283

2013
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: 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: 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
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: 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: 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: 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: 10891
Gene Symbol: PPARGC1A
PPARGC1A
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		0.490 GermlineModifyingMutation ORPHANET PGC-1α is a male-specific disease modifier of human and experimental amyotrophic lateral sclerosis. 23669350

2013
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: 54209
Gene Symbol: TREM2
TREM2
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		0.500 SusceptibilityMutation ORPHANET The TREM2 variant p.R47H was more common in patients with ALS than in the controls and is therefore a significant risk factor for ALS (odds ratio, 2.40; 95% CI, 1.29-4.15; P = 4.1×10-3). 24535663

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: 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
Entrez Id: 4744
Gene Symbol: NEFH
NEFH
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		0.500 SusceptibilityMutation ORPHANET Genetics of amyotrophic lateral sclerosis: an update. 23941283

2013
Entrez Id: 3178
Gene Symbol: HNRNPA1
HNRNPA1
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		0.500 GermlineCausalMutation ORPHANET Mutations in prion-like domains in hnRNPA2B1 and hnRNPA1 cause multisystem proteinopathy and ALS. 23455423

2013
Entrez Id: 5216
Gene Symbol: PFN1
PFN1
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		0.500 GermlineCausalMutation ORPHANET In this study, we investigated the mutation spectrum of PFN1 in Chinese patients with ALS. 23428184

2013
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