Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.030 GeneticVariation disease BEFREE Coiled-coil-helix-coiled-coil-helix domain containing protein 2 (CHCHD2) mutations were linked with autosomal dominant Parkinson's disease (PD) and recently, Alzheimer's disease/frontotemporal dementia. 30496485 2019
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.030 GeneticVariation disease BEFREE Mutation Screening of the CHCHD2 Gene for Alzheimer's Disease and Frontotemporal Dementia in Chinese Mainland Population. 29376860 2018
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.030 GeneticVariation disease BEFREE Pro2 Leu, however, was also detected in controls and was confirmed to have no significant association with the risk for AD; Ile80Val was not detected in any normal controls, suggesting that the CHCHD2 gene may be associated with AD in the Chinese Han population. 29749507 2018