SYNJ1, synaptojanin 1, 8867

N. diseases: 128; N. variants: 12
Disease: Cognitive deterioration ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0854193
Disease: Cognitive deterioration
Cognitive deterioration 		0.020 Biomarker disease BEFREE Reduction of synaptojanin 1 accelerates Aβ clearance and attenuates cognitive deterioration in an Alzheimer mouse model. 24052255 2013
CUI: C0854193
Disease: Cognitive deterioration
Cognitive deterioration 		0.020 GeneticVariation disease BEFREE Here, we report the identification, by homozygosity mapping and exome sequencing, of a SYNJ1 homozygous mutation (p.Arg258Gln) segregating with disease in an Italian consanguineous family with Parkinsonism, dystonia, and cognitive deterioration. 23804577 2013