Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
SPINAL MUSCULAR ATROPHY, JOKELA TYPE
CUI: C3554398
Disease: SPINAL MUSCULAR ATROPHY, JOKELA TYPE
0.700 CausalMutation CLINVAR Late onset spinal motor neuronopathy is caused by mutation in CHCHD10. 25428574 2015
SPINAL MUSCULAR ATROPHY, JOKELA TYPE
CUI: C3554398
Disease: SPINAL MUSCULAR ATROPHY, JOKELA TYPE
0.700 CausalMutation CLINVAR Two novel mutations in conserved codons indicate that CHCHD10 is a gene associated with motor neuron disease. 25113787 2014
Frontotemporal Dementia With Motor Neuron Disease
CUI: C3888102
Disease: Frontotemporal Dementia With Motor Neuron Disease
0.010 GeneticVariation BEFREE Following the involvement of CHCHD10 in FrontoTemporal-Dementia-Amyotrophic Lateral Sclerosis (FTD-ALS) clinical spectrum, a founder mutation (p.Gly66Val) in the same gene was identified in Finnish families with late-onset spinal motor neuronopathy (SMAJ). 30092269 2018
Neuropathy
CUI: C0442874
Disease: Neuropathy
0.010 GeneticVariation BEFREE Our data demonstrate that even within the same family, the p.Gly66Val variant can cause variable phenotypes ranging from CMT2-type axonal neuropathy to spinal muscular atrophy, which may also present as an ALS-like disease. 26224640 2016
Amyotrophic Lateral Sclerosis
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
0.010 GeneticVariation BEFREE We retrospectively re-assessed muscle biopsy findings in 23 patients with autosomal dominant lower motor neuron disease caused by p.G66V mutation in CHCHD10 (SMAJ), 10 X-linked spinal and bulbar muscular atrophy (SBMA) and 11 autosomal dominant c9orf72-mutated amyotrophic lateral sclerosis (c9ALS) patients. 26999347 2016
Bulbo-Spinal Atrophy, X-Linked
CUI: C1839259
Disease: Bulbo-Spinal Atrophy, X-Linked
0.010 GeneticVariation BEFREE We retrospectively re-assessed muscle biopsy findings in 23 patients with autosomal dominant lower motor neuron disease caused by p.G66V mutation in CHCHD10 (SMAJ), 10 X-linked spinal and bulbar muscular atrophy (SBMA) and 11 autosomal dominant c9orf72-mutated amyotrophic lateral sclerosis (c9ALS) patients. 26999347 2016
Spinal Muscular Atrophy
CUI: C0026847
Disease: Spinal Muscular Atrophy
0.010 GeneticVariation BEFREE Our data demonstrate that even within the same family, the p.Gly66Val variant can cause variable phenotypes ranging from CMT2-type axonal neuropathy to spinal muscular atrophy, which may also present as an ALS-like disease. 26224640 2016
Axonal neuropathy
CUI: C0270921
Disease: Axonal neuropathy
0.010 GeneticVariation BEFREE Our data demonstrate that even within the same family, the p.Gly66Val variant can cause variable phenotypes ranging from CMT2-type axonal neuropathy to spinal muscular atrophy, which may also present as an ALS-like disease. 26224640 2016