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PubMed:10332040 JSONTXT

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DisGeNET

Id Subject Object Predicate Lexical cue
T0 48-53 gene:5194 denotes PEX13
T1 98-129 disease:C1832200 denotes peroxisome biogenesis disorders
R1 T0 T1 associated_with PEX13,peroxisome biogenesis disorders

DisGeNET5_variant_disease

Id Subject Object Predicate Lexical cue
10332040-4#179#184#geners61752115 1132-1137 geners61752115 denotes I326T
10332040-4#23#27#diseaseC0162309 976-980 diseaseC0162309 denotes NALD
10332040-4#96#98#diseaseC0040517 1049-1051 diseaseC0040517 denotes TS
10332040-4#96#98#diseaseC0040963 1049-1051 diseaseC0040963 denotes TS
10332040-4#96#98#diseaseC0041341 1049-1051 diseaseC0041341 denotes TS
10332040-4#96#98#diseaseC1832916 1049-1051 diseaseC1832916 denotes TS
179#184#geners6175211523#27#diseaseC0162309 10332040-4#179#184#geners61752115 10332040-4#23#27#diseaseC0162309 associated_with I326T,NALD
179#184#geners6175211596#98#diseaseC0040517 10332040-4#179#184#geners61752115 10332040-4#96#98#diseaseC0040517 associated_with I326T,TS
179#184#geners6175211596#98#diseaseC0040963 10332040-4#179#184#geners61752115 10332040-4#96#98#diseaseC0040963 associated_with I326T,TS
179#184#geners6175211596#98#diseaseC0041341 10332040-4#179#184#geners61752115 10332040-4#96#98#diseaseC0041341 associated_with I326T,TS
179#184#geners6175211596#98#diseaseC1832916 10332040-4#179#184#geners61752115 10332040-4#96#98#diseaseC1832916 associated_with I326T,TS

DisGeNET5_gene_disease

Id Subject Object Predicate Lexical cue
10332040-0#48#53#gene5194 48-53 gene5194 denotes PEX13
10332040-0#98#129#diseaseC1832200 98-129 diseaseC1832200 denotes peroxisome biogenesis disorders
10332040-3#326#331#gene5194 716-721 gene5194 denotes PEX13
10332040-3#389#391#diseaseC0043459 779-781 diseaseC0043459 denotes ZS
10332040-3#401#405#diseaseC0043459 791-795 diseaseC0043459 denotes H-02
48#53#gene519498#129#diseaseC1832200 10332040-0#48#53#gene5194 10332040-0#98#129#diseaseC1832200 associated_with PEX13,peroxisome biogenesis disorders
326#331#gene5194389#391#diseaseC0043459 10332040-3#326#331#gene5194 10332040-3#389#391#diseaseC0043459 associated_with PEX13,ZS
326#331#gene5194401#405#diseaseC0043459 10332040-3#326#331#gene5194 10332040-3#401#405#diseaseC0043459 associated_with PEX13,H-02