Disease: Tauopathies ×
Source: BEFREE ×
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0949664
Disease: Tauopathies
Tauopathies 		0.030 GeneticVariation group BEFREE The large fusiform gyrus library (117 subjects) with high sequencing coverage correlated the c.2187_2188insA ADNP mutation frequency to Braak stage (tauopathy) and showed more ADNP mutations in AD specimens. 31664177 2019
CUI: C0949664
Disease: Tauopathies
Tauopathies 		0.030 Biomarker group BEFREE Our protein interaction studies identified ADNP as a member of the chromatin remodeling complex, SWI/SNF also associated with alternative splicing of tau and prediction of tauopathy. 25955282 2016
CUI: C0949664
Disease: Tauopathies
Tauopathies 		0.030 Biomarker group BEFREE ADNP haploinsufficiency in mice results in tauopathy and cognitive deficits ameliorated by davunetide treatment. 22956189 2012