rs752169833, CHCHD2

N. diseases: 3
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
PARKINSON DISEASE 22, AUTOSOMAL DOMINANT
CUI: C4225238
Disease: PARKINSON DISEASE 22, AUTOSOMAL DOMINANT
0.800 GeneticVariation UNIPROT CHCHD2 mutations in autosomal dominant late-onset Parkinson's disease: a genome-wide linkage and sequencing study. 25662902 2015
PARKINSON DISEASE 22, AUTOSOMAL DOMINANT
CUI: C4225238
Disease: PARKINSON DISEASE 22, AUTOSOMAL DOMINANT
0.800 CausalMutation CLINVAR
Mitochondrial Diseases
CUI: C0751651
Disease: Mitochondrial Diseases
0.010 GeneticVariation BEFREE Importantly, a specific mitochondria-targeted peptide, Elamipretide/MTP-131, now tested in phase 3 clinical trials for mitochondrial diseases, was found to enhance CHCHD2 with MICOS and mitochondria oxidative phosphorylation enzymes in isogenic NPCs harboring heterozygous R145Q, suggesting that Elamipretide is able to attenuate CHCHD2 R145Q-induced mitochondria dysfunction. 30496485 2019
Sporadic Parkinson disease
CUI: C4511452
Disease: Sporadic Parkinson disease
0.010 GeneticVariation BEFREE We detected the exonic variants p.Pro2Leu, p.Arg18Gln and p.Arg145Gln in six patients with sporadic PD respectively. 27269965 2016