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DisGeNET5_variant_disease

Id Subject Object Predicate Lexical cue
10078973-8#39#44#geners63750526 1474-1479 geners63750526 denotes A246E
10078973-8#28#31#diseaseC0276496 1463-1466 diseaseC0276496 denotes FAD
39#44#geners6375052628#31#diseaseC0276496 10078973-8#39#44#geners63750526 10078973-8#28#31#diseaseC0276496 associated_with A246E,FAD

DisGeNET5_gene_disease

Id Subject Object Predicate Lexical cue
10078973-0#102#114#gene5663 926-1494 gene5663 denotes ptic transmission were unaltered in WtTg and MTg compared to NTg mice, including maximum fEPSP slope, maximum fEPSP amplitude, maximum fiber volley amplitude, and the function relating fiber volley amplitude to fEPSP slope, an index of basal synaptic strength. In addition, paired-pulse facilitation was not changed. However, upon theta burst stimulation or high-frequency stimulation, input-specific LTP in MTg animals had a larger initial amplitude and was more persistent than that in WtTg or NTg animals. These data suggest that the FAD-linked A246E variant of PS1
10078973-0#91#94#diseaseC0276496 810-813 diseaseC0276496 denotes FAD
10078973-1#49#61#gene5664 165-177 gene5664 denotes presenilin 2
10078973-1#107#135#diseaseC0276496 223-251 diseaseC0276496 denotes familial Alzheimer's disease
102#114#gene566391#94#diseaseC0276496 10078973-0#102#114#gene5663 10078973-0#91#94#diseaseC0276496 associated_with "ptic transmission were unaltered in WtTg and MTg compared to NTg mice, including maximum fEPSP slope, maximum fEPSP amplitude, maximum fiber volley amplitude, and the function relating fiber volley amplitude to fEPSP slope, an index of basal synaptic strength. In addition, paired-pulse facilitation was not changed. However, upon theta burst stimulation or high-frequency stimulation, input-specific LTP in MTg animals had a larger initial amplitude and was more persistent than that in WtTg or NTg animals. These data suggest that the FAD-linked A246E variant of PS1",FAD
49#61#gene5664107#135#diseaseC0276496 10078973-1#49#61#gene5664 10078973-1#107#135#diseaseC0276496 associated_with presenilin 2,familial Alzheimer's disease

PubmedHPO

Id Subject Object Predicate Lexical cue
T1 232-251 HP_0002511 denotes Alzheimer's disease
T2 379-398 HP_0002511 denotes Alzheimer's disease