EFHD2, EF-hand domain family member D2, 79180

N. diseases: 29; N. variants: 3
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0949664
Disease: Tauopathies
Tauopathies
0.020 Biomarker group 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: C0949664
Disease: Tauopathies
Tauopathies
0.020 Biomarker group BEFREE However, the role that EFhd2 may play in tauopathies is still unknown. 23331044 2013