Disease: Parkinson Disease ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.100 GeneticVariation disease BEFREE No pathogenic or risk variants were found, suggesting that genetic variants of CHCHD2 are not a common cause of familial PD in Brazilian patients. 30342766 2019
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.100 GeneticVariation disease BEFREE The prion-like activity and morphology of α-synuclein fibrils from CHCHD2 T61I brain tissue were similar to those of fibrils from SNCA duplication and sporadic PD brain tissues. 31600778 2019
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.100 GeneticVariation disease BEFREE We therefore propose that CHCHD10 is involved in the development of Parkinson's disease caused by CHCHD2 loss-of-function mutation p.T61I. 30530185 2019
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.100 GeneticVariation disease BEFREE Three other neurodegenerative diseases, Alzheimer's disease (AD), amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD), share significant overlaps with PD in clinical phenotypes, pathological features and genetic heredities, and it is still unclear whether CHCHD2 variants could explain these three diseases. 29749507 2018
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.100 GeneticVariation disease BEFREE Dominant mutations in CHCHD10 cause amyotrophic lateral sclerosis (ALS)/frontotemporal dementia, and mutations in CHCHD2 have been associated with Parkinson's disease, but the function of these proteins remains unknown. 29121267 2018
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.100 Biomarker disease BEFREE As an important multifunctional protein involved in regulation of mitochondrial metabolism, CHCHD2 was identified as a causative gene for Parkinson's disease (PD), yet the relationship between CHCHD2 and neurodegenerative dementia is not well understood. 29376860 2018
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.100 GeneticVariation disease BEFREE In this study, a novel CHCHD2 mutation was identified in a family with Parkinson's disease (Shi et al., 2016), and the fibroblasts of the patient were successfully transformed into iPSCs. 30237140 2018
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.100 GeneticVariation disease BEFREE Our data suggest that CHCHD2 and CHCDH10 mutations are not a relevant cause of PD in Italian population. 28108040 2017
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.100 Biomarker disease BEFREE These PD-associated phenotypes are rescued by the overexpression of the translation inhibitor 4E-BP and by the introduction of human CHCHD2 but not its PD-associated mutants. 28589937 2017
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.100 GeneticVariation disease BEFREE CHCHD2 is the latest identified Parkinson's disease (PD)-causing gene, and previous studies have reported the same CHCHD2 variant (182C>T, Thr61Ile) in both PD and essential tremor (ET) patients. 27814991 2017
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.100 Biomarker disease BEFREE Thus, our study suggests that CHCHD2 is probably not involved in the etiopathogenesis of PD in our population. 27839904 2017
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.100 GeneticVariation disease BEFREE This result suggests that CHCHD2 mutations might not be the common cause of PD in South Italy. 27839905 2017
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.100 GeneticVariation disease BEFREE Mutational scanning of the CHCHD2 gene in Han Chinese patients with Parkinson's disease and meta-analysis of the literature. 27269965 2016
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.100 Biomarker disease BEFREE Mutation analysis of CHCHD2 in Canadian patients with familial Parkinson's disease. 26639156 2016
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.100 Biomarker disease BEFREE CHCHD2, which encodes a regulator of mitochondrial metabolism, has been linked to Parkinson's disease (PD) in a Japanese population. 27538669 2016
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.100 GeneticVariation disease BEFREE Genetic analysis of the CHCHD2 gene in a cohort of Chinese patients with Parkinson disease. 27353515 2016
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.100 Biomarker disease BEFREE Recently, Funayama et al. identified CHCHD2 as a novel causative gene of Parkinson disease (PD). 27717833 2016
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.100 GeneticVariation disease BEFREE Genetic analysis of CHCHD2 gene in Chinese Parkinson's disease. 27626775 2016
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.100 GeneticVariation disease BEFREE Further genetic studies in other populations are needed to confirm the pathogenicity of CHCHD2 mutations in autosomal dominant Parkinson's disease and susceptibility for sporadic Parkinson's disease, and further functional studies are needed to understand how mutant CHCHD2 might play a part in the pathophysiology of Parkinson's disease. 25662902 2015
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.100 GeneticVariation disease BEFREE Although the role of variants of the CHCHD2 gene in PD and LBD remains to be further elucidated, the rare variants in the mitochondrial targeting sequence may be a risk factor for Lewy body disorders, which may link CHCHD2 to other genetic forms of parkinsonism with mitochondrial dysfunction. 26561290 2015
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.100 GeneticVariation disease BEFREE No mutations in CHCHD2 gene were identified, suggesting that CHCHD2 mutations might not be a common cause of PD in Chinese familial cases. 26343503 2015