CHCHD10
| is a | gene |
| is | mentioned by |
| Full name | coiled-coil-helix-coiled-coil-helix domain containing 10 |
| EntrezGene | 400916 |
| PheGenI | 400916 |
| VariationViewer | 400916 |
| ClinVar | CHCHD10 |
| GeneCards | CHCHD10 |
| dbSNP | 400916 |
| Diseases | CHCHD10 |
| SADR | 400916 |
| HugeNav | 400916 |
| wikipedia | CHCHD10 |
| CHCHD10 | |
| gopubmed | CHCHD10 |
| EVS | CHCHD10 |
| HEFalMp | CHCHD10 |
| MyGene2 | CHCHD10 |
| 23andMe | CHCHD10 |
| UniProt | Q8WYQ3 |
| Ensembl | ENSG00000250479 |
| OMIM | 615903 |
| # SNPs | 7 |
| Max Magnitude | Chromosome position | Summary | |
|---|---|---|---|
| rs551521196 | 0 | 23,767,535 | |
| rs587777574 | 0 | 23,767,459 | |
| rs730880030 | 0 | 23,767,591 | |
| rs730880031 | 6 | 23,767,438 | |
| rs730880032 | 0 | 23,767,592 | |
| rs730880033 | 0 | 23,767,463 | |
| rs775332895 | 0 | 23,767,396 |
[PMID 26344877] The CHCHD10 P34S variant is not associated with ALS in a UK cohort of familial and sporadic patients.
[PMID 26251896
] Genes and Pathways Involved in Adult Onset Disorders Featuring Muscle Mitochondrial DNA Instability.
[PMID 26224640] Intrafamilial clinical variability in individuals carrying the CHCHD10 mutation Gly66Val.
[PMID 26152333] Analysis of the CHCHD10 gene in patients with frontotemporal dementia and amyotrophic lateral sclerosis from Spain.
[PMID 26131548] CHCHD10-Related Disorders.
[PMID 26095063] CHCHD10 mutations are not a common cause of SMN1-negative type III/IV spinal motor atrophy.
[PMID 26059445] Spontaneous activity in electromyography may differentiate certain benign lower motor neuron disease forms from amyotrophic lateral sclerosis.
[PMID 25833818] Mutation analysis of CHCHD10 in different neurodegenerative diseases.
[PMID 25681414] A distinct clinical phenotype in a German kindred with motor neuron disease carrying a CHCHD10 mutation.
[PMID 25576308] CHCHD10 mutations in Italian patients with sporadic amyotrophic lateral sclerosis.
[PMID 25428574] Late onset spinal motor neuronopathy is caused by mutation in CHCHD10.
[PMID 25348633] Reply: Are CHCHD10 mutations indeed associated with familial amyotrophic lateral sclerosis?
[PMID 25348631] Are CHCHD10 mutations indeed associated with familial amyotrophic lateral sclerosis?
[PMID 25155093] Screening of CHCHD10 in a French cohort confirms the involvement of this gene in frontotemporal dementia with amyotrophic lateral sclerosis patients.
[PMID 25113787] Two novel mutations in conserved codons indicate that CHCHD10 is a gene associated with motor neuron disease.
[PMID 24934289] A mitochondrial origin for frontotemporal dementia and amyotrophic lateral sclerosis through CHCHD10 involvement.
