Source: ORPHANET

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 400916
Gene Symbol: CHCHD10
CHCHD10
CUI: C3554398
Disease: SPINAL MUSCULAR ATROPHY, JOKELA TYPE
SPINAL MUSCULAR ATROPHY, JOKELA TYPE 		0.710 GermlineCausalMutation ORPHANET Late onset spinal motor neuronopathy is caused by mutation in CHCHD10. 25428574

2015
Entrez Id: 400916
Gene Symbol: CHCHD10
CHCHD10
CUI: C4015513
Disease: MYOPATHY, ISOLATED MITOCHONDRIAL, AUTOSOMAL DOMINANT
MYOPATHY, ISOLATED MITOCHONDRIAL, AUTOSOMAL DOMINANT 		0.700 GermlineCausalMutation ORPHANET Mutation in the novel nuclear-encoded mitochondrial protein CHCHD10 in a family with autosomal dominant mitochondrial myopathy. 25193783

2015
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: 400916
Gene Symbol: CHCHD10
CHCHD10
CUI: C3888102
Disease: Frontotemporal Dementia With Motor Neuron Disease
Frontotemporal Dementia With Motor Neuron Disease 		0.360 GermlineCausalMutation ORPHANET The observation of a frontotemporal dementia-amyotrophic lateral sclerosis phenotype in a mitochondrial disease led us to analyse CHCHD10 in a cohort of 21 families with pathologically proven frontotemporal dementia-amyotrophic lateral sclerosis. 24934289

2014