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DisGeNET5_variant_disease

Id Subject Object Predicate Lexical cue
10218629-0#46#51#geners63751273 875-1580 geners63751273 denotes Pro to Leu substitution. Widespread neuronal and glial inclusions, neuropil threads, and astrocytic plaques similar to those seen in corticobasal degeneration were labeled with a battery of antibodies to phosphorylation-dependent and phosphorylation-independent epitopes spanning the entire tau sequence. Isolated tau filaments had the morphology of narrow twisted ribbons. Sarkosyl-insoluble tau exhibited 2 major bands of 64 and 68 kDa and a minor 72 kDa band, similar to the pattern seen in a familial tauopathy associated with an intronic tau mutation. These pathological tau bands predominantly contained the subset of tau isoforms with 4 microtubule-binding repeats selectively affected by the P301L
10218629-0#31#39#diseaseC0011265 698-745 diseaseC0011265 denotes d frontotemporal atrophy and degeneration of ba
10218629-0#31#39#diseaseC0497327 698-745 diseaseC0497327 denotes d frontotemporal atrophy and degeneration of ba
46#51#geners6375127331#39#diseaseC0011265 10218629-0#46#51#geners63751273 10218629-0#31#39#diseaseC0011265 associated_with "Pro to Leu substitution. Widespread neuronal and glial inclusions, neuropil threads, and astrocytic plaques similar to those seen in corticobasal degeneration were labeled with a battery of antibodies to phosphorylation-dependent and phosphorylation-independent epitopes spanning the entire tau sequence. Isolated tau filaments had the morphology of narrow twisted ribbons. Sarkosyl-insoluble tau exhibited 2 major bands of 64 and 68 kDa and a minor 72 kDa band, similar to the pattern seen in a familial tauopathy associated with an intronic tau mutation. These pathological tau bands predominantly contained the subset of tau isoforms with 4 microtubule-binding repeats selectively affected by the P301L",d frontotemporal atrophy and degeneration of ba
46#51#geners6375127331#39#diseaseC0497327 10218629-0#46#51#geners63751273 10218629-0#31#39#diseaseC0497327 associated_with "Pro to Leu substitution. Widespread neuronal and glial inclusions, neuropil threads, and astrocytic plaques similar to those seen in corticobasal degeneration were labeled with a battery of antibodies to phosphorylation-dependent and phosphorylation-independent epitopes spanning the entire tau sequence. Isolated tau filaments had the morphology of narrow twisted ribbons. Sarkosyl-insoluble tau exhibited 2 major bands of 64 and 68 kDa and a minor 72 kDa band, similar to the pattern seen in a familial tauopathy associated with an intronic tau mutation. These pathological tau bands predominantly contained the subset of tau isoforms with 4 microtubule-binding repeats selectively affected by the P301L",d frontotemporal atrophy and degeneration of ba

DisGeNET5_gene_disease

Id Subject Object Predicate Lexical cue
10218629-1#84#91#gene4137 153-160 gene4137 denotes FTDP-17
10218629-1#172#175#gene4137 241-244 gene4137 denotes tau
10218629-1#18#41#diseaseC0236642 87-110 diseaseC0236642 denotes frontotemporal dementia
10218629-1#18#41#diseaseC0338451 87-110 diseaseC0338451 denotes frontotemporal dementia
10218629-1#18#41#diseaseC0236642 87-110 diseaseC0236642 denotes frontotemporal dementia
10218629-1#18#41#diseaseC0338451 87-110 diseaseC0338451 denotes frontotemporal dementia
10218629-11#118#125#gene4137 1718-1725 gene4137 denotes FTDP-17
10218629-11#67#78#diseaseC0949664 1667-1678 diseaseC0949664 denotes tauopathies
10218629-11#136#162#diseaseC0524851 1736-1762 diseaseC0524851 denotes neurodegenerative diseases
84#91#gene413718#41#diseaseC0236642 10218629-1#84#91#gene4137 10218629-1#18#41#diseaseC0236642 associated_with FTDP-17,frontotemporal dementia
84#91#gene413718#41#diseaseC0338451 10218629-1#84#91#gene4137 10218629-1#18#41#diseaseC0338451 associated_with FTDP-17,frontotemporal dementia
84#91#gene413718#41#diseaseC0236642 10218629-1#84#91#gene4137 10218629-1#18#41#diseaseC0236642 associated_with FTDP-17,frontotemporal dementia
84#91#gene413718#41#diseaseC0338451 10218629-1#84#91#gene4137 10218629-1#18#41#diseaseC0338451 associated_with FTDP-17,frontotemporal dementia
172#175#gene413718#41#diseaseC0236642 10218629-1#172#175#gene4137 10218629-1#18#41#diseaseC0236642 associated_with tau,frontotemporal dementia
172#175#gene413718#41#diseaseC0338451 10218629-1#172#175#gene4137 10218629-1#18#41#diseaseC0338451 associated_with tau,frontotemporal dementia
172#175#gene413718#41#diseaseC0236642 10218629-1#172#175#gene4137 10218629-1#18#41#diseaseC0236642 associated_with tau,frontotemporal dementia
172#175#gene413718#41#diseaseC0338451 10218629-1#172#175#gene4137 10218629-1#18#41#diseaseC0338451 associated_with tau,frontotemporal dementia
118#125#gene413767#78#diseaseC0949664 10218629-11#118#125#gene4137 10218629-11#67#78#diseaseC0949664 associated_with FTDP-17,tauopathies
118#125#gene4137136#162#diseaseC0524851 10218629-11#118#125#gene4137 10218629-11#136#162#diseaseC0524851 associated_with FTDP-17,neurodegenerative diseases

PubCasesHPO

Id Subject Object Predicate Lexical cue
AB1 87-110 HP:0002145 denotes frontotemporal dementia
AB2 115-127 HP:0001300 denotes parkinsonism
AB3 333-341 HP:0000726 denotes dementia
AB4 560-577 HP:0002511 denotes Alzheimer disease

DisGeNET

Id Subject Object Predicate Lexical cue
T0 153-160 gene:4137 denotes FTDP-17
T1 87-110 disease:C0236642 denotes frontotemporal dementia
T2 153-160 gene:4137 denotes FTDP-17
T3 87-110 disease:C0338451 denotes frontotemporal dementia
T4 241-244 gene:4137 denotes tau
T5 87-110 disease:C0236642 denotes frontotemporal dementia
T6 241-244 gene:4137 denotes tau
T7 87-110 disease:C0338451 denotes frontotemporal dementia
R1 T0 T1 associated_with FTDP-17,frontotemporal dementia
R2 T2 T3 associated_with FTDP-17,frontotemporal dementia
R3 T4 T5 associated_with tau,frontotemporal dementia
R4 T6 T7 associated_with tau,frontotemporal dementia

PubmedHPO

Id Subject Object Predicate Lexical cue
T1 87-110 HP_0002145 denotes frontotemporal dementia
T2 102-110 HP_0000726 denotes dementia
T3 115-127 HP_0001300 denotes parkinsonism
T4 333-341 HP_0000726 denotes dementia
T5 560-577 HP_0002511 denotes Alzheimer disease