EFHD2, EF-hand domain family member D2, 79180

N. diseases: 29; N. variants: 3
Disease: Alzheimer's Disease ×
Source: ALL
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 Biomarker disease BEFREE Together with our finding of severe hippocampal tauopathy in Efhd2 knockout mice, these data connect Efhd2 to impaired synaptic plasticity as present in Alzheimer's disease and identify a role of Efhd2 in neuronal survival and synaptic integration in the adult hippocampus. 29337116 2018
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.030 Biomarker disease BEFREE Previously, we showed that EFhd2 protein is associated with pathological aggregated forms of tau in AD brain. 30559642 2018
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.030 Biomarker disease BEFREE Immunohistological analyses of brain slices demonstrated that EFhd2 co-localizes with pathological tau proteins in AD brains, confirming the co-aggregation of EFhd2 and pathological tau. 23331044 2013