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PubMed:10749983 JSONTXT

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PubmedHPO

Id Subject Object Predicate Lexical cue
T1 271-280 HP_0010566 denotes hamartoma
T2 281-287 HP_0002664 denotes tumour
T3 421-430 HP_0002664 denotes neoplasia
T4 442-448 HP_0002664 denotes tumour
T5 716-726 HP_0010566 denotes hamartomas
T6 798-808 HP_0001548 denotes overgrowth
T7 813-820 HP_0012032 denotes lipomas
T8 897-907 HP_0001548 denotes overgrowth
T9 912-919 HP_0012032 denotes lipomas
T10 1269-1275 HP_0003764 denotes naevus
T11 1280-1306 HP_0100026 denotes arteriovenous malformation
T12 1720-1726 HP_0002664 denotes cancer

DisGeNET5_variant_disease

Id Subject Object Predicate Lexical cue
10749983-7#189#194#geners121909224 1410-1415 geners121909224 denotes R130X
10749983-7#240#245#geners121909231 1461-1466 geners121909231 denotes R335X
10749983-7#59#85#diseaseC0003857 1280-1306 diseaseC0003857 denotes arteriovenous malformation
10749983-7#59#85#diseaseC0334533 1280-1306 diseaseC0334533 denotes arteriovenous malformation
10749983-7#59#85#diseaseC0003857 1280-1306 diseaseC0003857 denotes arteriovenous malformation
10749983-7#59#85#diseaseC0334533 1280-1306 diseaseC0334533 denotes arteriovenous malformation
189#194#geners12190922459#85#diseaseC0003857 10749983-7#189#194#geners121909224 10749983-7#59#85#diseaseC0003857 associated_with R130X,arteriovenous malformation
189#194#geners12190922459#85#diseaseC0334533 10749983-7#189#194#geners121909224 10749983-7#59#85#diseaseC0334533 associated_with R130X,arteriovenous malformation
189#194#geners12190922459#85#diseaseC0003857 10749983-7#189#194#geners121909224 10749983-7#59#85#diseaseC0003857 associated_with R130X,arteriovenous malformation
189#194#geners12190922459#85#diseaseC0334533 10749983-7#189#194#geners121909224 10749983-7#59#85#diseaseC0334533 associated_with R130X,arteriovenous malformation
240#245#geners12190923159#85#diseaseC0003857 10749983-7#240#245#geners121909231 10749983-7#59#85#diseaseC0003857 associated_with R335X,arteriovenous malformation
240#245#geners12190923159#85#diseaseC0334533 10749983-7#240#245#geners121909231 10749983-7#59#85#diseaseC0334533 associated_with R335X,arteriovenous malformation
240#245#geners12190923159#85#diseaseC0003857 10749983-7#240#245#geners121909231 10749983-7#59#85#diseaseC0003857 associated_with R335X,arteriovenous malformation
240#245#geners12190923159#85#diseaseC0334533 10749983-7#240#245#geners121909231 10749983-7#59#85#diseaseC0334533 associated_with R335X,arteriovenous malformation

DisGeNET5_gene_disease

Id Subject Object Predicate Lexical cue
10749983-0#29#33#gene5728 29-33 gene5728 denotes PTEN
10749983-0#158#169#diseaseC0023801 158-169 diseaseC0023801 denotes lipomatosis
10749983-0#158#169#diseaseC2931642 158-169 diseaseC2931642 denotes lipomatosis
10749983-0#62#83#diseaseC1866398 62-83 diseaseC1866398 denotes Proteus-like syndrome
10749983-0#87#102#diseaseC0332890 87-102 diseaseC0332890 denotes hemihypertrophy
10749983-1#9#13#gene5728 180-184 gene5728 denotes PTEN
10749983-1#140#144#gene5728 311-315 gene5728 denotes PTEN
10749983-1#30#45#diseaseC0018553 201-216 diseaseC0018553 denotes Cowden syndrome
10749983-1#47#49#diseaseC0018553 218-220 diseaseC0018553 denotes CS
10749983-1#55#88#diseaseC0265326 226-259 diseaseC0265326 denotes Bannayan-Riley-Ruvalcaba syndrome
10749983-1#90#93#diseaseC0265326 261-264 diseaseC0265326 denotes BRR
10749983-1#100#109#diseaseC0018552 271-280 diseaseC0018552 denotes hamartoma
10749983-1#30#45#diseaseC0018553 201-216 diseaseC0018553 denotes Cowden syndrome
10749983-1#55#88#diseaseC0265326 226-259 diseaseC0265326 denotes Bannayan-Riley-Ruvalcaba syndrome
10749983-1#90#93#diseaseC0265326 261-264 diseaseC0265326 denotes BRR
10749983-1#100#109#diseaseC0018552 271-280 diseaseC0018552 denotes hamartoma
29#33#gene5728158#169#diseaseC0023801 10749983-0#29#33#gene5728 10749983-0#158#169#diseaseC0023801 associated_with PTEN,lipomatosis
29#33#gene5728158#169#diseaseC2931642 10749983-0#29#33#gene5728 10749983-0#158#169#diseaseC2931642 associated_with PTEN,lipomatosis
29#33#gene572862#83#diseaseC1866398 10749983-0#29#33#gene5728 10749983-0#62#83#diseaseC1866398 associated_with PTEN,Proteus-like syndrome
29#33#gene572887#102#diseaseC0332890 10749983-0#29#33#gene5728 10749983-0#87#102#diseaseC0332890 associated_with PTEN,hemihypertrophy
9#13#gene572830#45#diseaseC0018553 10749983-1#9#13#gene5728 10749983-1#30#45#diseaseC0018553 associated_with PTEN,Cowden syndrome
9#13#gene572847#49#diseaseC0018553 10749983-1#9#13#gene5728 10749983-1#47#49#diseaseC0018553 associated_with PTEN,CS
9#13#gene572855#88#diseaseC0265326 10749983-1#9#13#gene5728 10749983-1#55#88#diseaseC0265326 associated_with PTEN,Bannayan-Riley-Ruvalcaba syndrome
9#13#gene572890#93#diseaseC0265326 10749983-1#9#13#gene5728 10749983-1#90#93#diseaseC0265326 associated_with PTEN,BRR
9#13#gene5728100#109#diseaseC0018552 10749983-1#9#13#gene5728 10749983-1#100#109#diseaseC0018552 associated_with PTEN,hamartoma
9#13#gene572830#45#diseaseC0018553 10749983-1#9#13#gene5728 10749983-1#30#45#diseaseC0018553 associated_with PTEN,Cowden syndrome
9#13#gene572855#88#diseaseC0265326 10749983-1#9#13#gene5728 10749983-1#55#88#diseaseC0265326 associated_with PTEN,Bannayan-Riley-Ruvalcaba syndrome
9#13#gene572890#93#diseaseC0265326 10749983-1#9#13#gene5728 10749983-1#90#93#diseaseC0265326 associated_with PTEN,BRR
9#13#gene5728100#109#diseaseC0018552 10749983-1#9#13#gene5728 10749983-1#100#109#diseaseC0018552 associated_with PTEN,hamartoma
140#144#gene572830#45#diseaseC0018553 10749983-1#140#144#gene5728 10749983-1#30#45#diseaseC0018553 associated_with PTEN,Cowden syndrome
140#144#gene572847#49#diseaseC0018553 10749983-1#140#144#gene5728 10749983-1#47#49#diseaseC0018553 associated_with PTEN,CS
140#144#gene572855#88#diseaseC0265326 10749983-1#140#144#gene5728 10749983-1#55#88#diseaseC0265326 associated_with PTEN,Bannayan-Riley-Ruvalcaba syndrome
140#144#gene572890#93#diseaseC0265326 10749983-1#140#144#gene5728 10749983-1#90#93#diseaseC0265326 associated_with PTEN,BRR
140#144#gene5728100#109#diseaseC0018552 10749983-1#140#144#gene5728 10749983-1#100#109#diseaseC0018552 associated_with PTEN,hamartoma
140#144#gene572830#45#diseaseC0018553 10749983-1#140#144#gene5728 10749983-1#30#45#diseaseC0018553 associated_with PTEN,Cowden syndrome
140#144#gene572855#88#diseaseC0265326 10749983-1#140#144#gene5728 10749983-1#55#88#diseaseC0265326 associated_with PTEN,Bannayan-Riley-Ruvalcaba syndrome
140#144#gene572890#93#diseaseC0265326 10749983-1#140#144#gene5728 10749983-1#90#93#diseaseC0265326 associated_with PTEN,BRR
140#144#gene5728100#109#diseaseC0018552 10749983-1#140#144#gene5728 10749983-1#100#109#diseaseC0018552 associated_with PTEN,hamartoma

DisGeNET

Id Subject Object Predicate Lexical cue
T0 180-184 gene:5728 denotes PTEN
T1 201-216 disease:C0018553 denotes Cowden syndrome
T2 180-184 gene:5728 denotes PTEN
T3 218-220 disease:C0018553 denotes CS
T4 180-184 gene:5728 denotes PTEN
T5 226-259 disease:C0265326 denotes Bannayan-Riley-Ruvalcaba syndrome
T6 180-184 gene:5728 denotes PTEN
T7 261-264 disease:C0265326 denotes BRR
T8 180-184 gene:5728 denotes PTEN
T9 271-280 disease:C0018552 denotes hamartoma
T10 180-184 gene:5728 denotes PTEN
T11 421-430 disease:C0027651 denotes neoplasia
T12 180-184 gene:5728 denotes PTEN
T13 421-430 disease:C1882062 denotes neoplasia
T14 311-315 gene:5728 denotes PTEN
T15 201-216 disease:C0018553 denotes Cowden syndrome
T16 311-315 gene:5728 denotes PTEN
T17 226-259 disease:C0265326 denotes Bannayan-Riley-Ruvalcaba syndrome
T18 311-315 gene:5728 denotes PTEN
T19 421-430 disease:C0027651 denotes neoplasia
T20 311-315 gene:5728 denotes PTEN
T21 421-430 disease:C1882062 denotes neoplasia
R1 T0 T1 associated_with PTEN,Cowden syndrome
R2 T2 T3 associated_with PTEN,CS
R3 T4 T5 associated_with PTEN,Bannayan-Riley-Ruvalcaba syndrome
R4 T6 T7 associated_with PTEN,BRR
R5 T8 T9 associated_with PTEN,hamartoma
R6 T10 T11 associated_with PTEN,neoplasia
R7 T12 T13 associated_with PTEN,neoplasia
R8 T14 T15 associated_with PTEN,Cowden syndrome
R9 T16 T17 associated_with PTEN,Bannayan-Riley-Ruvalcaba syndrome
R10 T18 T19 associated_with PTEN,neoplasia
R11 T20 T21 associated_with PTEN,neoplasia