Disease: Parkinson Disease, Familial, Type 1 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3489791
Disease: Parkinson Disease, Familial, Type 1
Parkinson Disease, Familial, Type 1 		0.090 Biomarker disease BEFREE Taken together, our results suggested CHCHD2-CHCHD10 complex may be a novel therapeutic target for PD and related neurodegenerative disorders, and Elamipretide may benefit CHCHD2 mutation-linked PD. 30496485 2019
CUI: C3489791
Disease: Parkinson Disease, Familial, Type 1
Parkinson Disease, Familial, Type 1 		0.090 GeneticVariation disease BEFREE Previously we identified the p.Thr61Ile mutation in coiled-coil-helix-coiled-coil-helix domain containing 2 (CHCHD2) in a Chinese family with autosomal dominant Parkinson's disease.But the mechanism is still unclear. 30530185 2019
CUI: C3489791
Disease: Parkinson Disease, Familial, Type 1
Parkinson Disease, Familial, Type 1 		0.090 Biomarker disease BEFREE Together, these findings demonstrate that differences in the stability and mutual affinity of CHCHD2 and CHCHD10 regulate their heterodimerization in response to mitochondrial distress, revealing an unanticipated link between PD and ALS/FTD pathogenesis. 30084972 2018
CUI: C3489791
Disease: Parkinson Disease, Familial, Type 1
Parkinson Disease, Familial, Type 1 		0.090 GeneticVariation disease BEFREE Recently, using a genome-wide linkage analysis and exome sequencing, a group identified a candidate gene (CHCHD2) in a large Japanese family with autosomal dominant Parkinson's disease. 27839905 2017
CUI: C3489791
Disease: Parkinson Disease, Familial, Type 1
Parkinson Disease, Familial, Type 1 		0.090 GeneticVariation disease BEFREE Our study suggests that Pro2Leu in CHCHD2 may be a risk factor for PD among Asians. 27626775 2016
CUI: C3489791
Disease: Parkinson Disease, Familial, Type 1
Parkinson Disease, Familial, Type 1 		0.090 GeneticVariation disease BEFREE Our study suggests that CHCHD2 mutations may not account for PD in Canadian patients. 26639156 2016
CUI: C3489791
Disease: Parkinson Disease, Familial, Type 1
Parkinson Disease, Familial, Type 1 		0.090 GeneticVariation disease BEFREE Herein, we sequenced CHCHD2 gene in 162 patients (90 from ADPD pedigrees, 72 with sporadic Parkinson disease) and 90 healthy controls in Chinese population. 27353515 2016
CUI: C3489791
Disease: Parkinson Disease, Familial, Type 1
Parkinson Disease, Familial, Type 1 		0.090 GeneticVariation disease BEFREE Genetic analysis of mutations in CHCHD2 gene was conducted in a cohort of 92 families with autosomal dominant Parkinson's disease from mainland China. 26343503 2015
CUI: C3489791
Disease: Parkinson Disease, Familial, Type 1
Parkinson Disease, Familial, Type 1 		0.090 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