Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia
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: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia
0.030 GeneticVariation disease BEFREE Four rare putative pathogenic variants of CHCHD2, including rs142444896 (c.5C>T, p.P2L), rs752705344 (c.15C>G, p.S5R), rs145190179 (c.94G>A, p.A32T), and rs182992574 (c.255T>A, rs182992574" genes_norm="51142">p.S85R) were identified from a cohort composed of 150 AD and 84 FTD patients. 29376860 2018
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia
0.030 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