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PubMed:10233647 JSONTXT

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DisGeNET

Id Subject Object Predicate Lexical cue
T0 12-18 gene:1294 denotes COL7A1
T1 62-104 disease:C0079474 denotes recessive dystrophic epidermolysis bullosa
T2 147-153 gene:1294 denotes COL7A1
T3 177-209 disease:C0079294 denotes dystrophic epidermolysis bullosa
R1 T0 T1 associated_with COL7A1,recessive dystrophic epidermolysis bullosa
R2 T2 T3 associated_with COL7A1,dystrophic epidermolysis bullosa

DisGeNET5_variant_disease

Id Subject Object Predicate Lexical cue
10233647-0#29#35#geners143457874 29-35 geners143457874 denotes R2814X
10233647-0#62#104#diseaseC0079474 62-104 diseaseC0079474 denotes recessive dystrophic epidermolysis bullosa
29#35#geners14345787462#104#diseaseC0079474 10233647-0#29#35#geners143457874 10233647-0#62#104#diseaseC0079474 associated_with R2814X,recessive dystrophic epidermolysis bullosa

DisGeNET5_gene_disease

Id Subject Object Predicate Lexical cue
10233647-5#29#35#gene1294 752-758 gene1294 denotes COL7A1
10233647-5#128#131#diseaseC0079294 851-854 diseaseC0079294 denotes DEB
29#35#gene1294128#131#diseaseC0079294 10233647-5#29#35#gene1294 10233647-5#128#131#diseaseC0079294 associated_with COL7A1,DEB