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PubMed:22219087 JSONTXT

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PubmedHPO

Id Subject Object Predicate Lexical cue
T1 125-144 HP_0000007 denotes autosomal recessive
T2 366-384 HP_0001249 denotes mental retardation
T3 433-450 HP_0002421 denotes poor head control
T4 460-471 HP_0000572 denotes vision loss
T5 473-496 HP_0001324 denotes weakness of the muscles

DisGeNET

Id Subject Object Predicate Lexical cue
T0 38-42 gene:443 denotes ASPA
T1 50-65 disease:C0206307 denotes Canavan disease
T2 849-853 gene:443 denotes ASPA
T3 884-899 disease:C0206307 denotes Canavan disease
R1 T0 T1 associated_with ASPA,Canavan disease
R2 T2 T3 associated_with ASPA,Canavan disease

DisGeNET5_variant_disease

Id Subject Object Predicate Lexical cue
22219087-0#21#28#geners761064915 21-28 geners761064915 denotes p.G274R
22219087-0#50#65#diseaseC0206307 50-65 diseaseC0206307 denotes Canavan disease
21#28#geners76106491550#65#diseaseC0206307 22219087-0#21#28#geners761064915 22219087-0#50#65#diseaseC0206307 associated_with p.G274R,Canavan disease

DisGeNET5_gene_disease

Id Subject Object Predicate Lexical cue
22219087-0#38#42#gene443 38-42 gene443 denotes ASPA
22219087-0#50#65#diseaseC0206307 50-65 diseaseC0206307 denotes Canavan disease
38#42#gene44350#65#diseaseC0206307 22219087-0#38#42#gene443 22219087-0#50#65#diseaseC0206307 associated_with ASPA,Canavan disease