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PubMed:10077612 JSONTXT

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PMID_GLOBAL

Id Subject Object Predicate Lexical cue mondo_id
T1 57-75 DiseaseOrPhenotypicFeature denotes Holt-Oram syndrome 0007732
T2 242-260 DiseaseOrPhenotypicFeature denotes Holt-Oram syndrome 0007732

DisGeNET5_variant_disease

Id Subject Object Predicate Lexical cue
10077612-3#169#178#geners104894382 567-576 geners104894382 denotes Arg237Trp
10077612-3#62#70#geners104894381 460-468 geners104894381 denotes Gly80Arg
10077612-3#155#164#geners104894378 553-562 geners104894378 denotes Arg237Gln
10077612-3#202#220#diseaseC0206762 600-618 diseaseC0206762 denotes limb malformations
10077612-3#242#263#diseaseC0018798 640-661 diseaseC0018798 denotes cardiac abnormalities
10077612-3#98#111#diseaseC0000768 496-509 diseaseC0000768 denotes malformations
10077612-3#127#149#diseaseC4021790 525-547 diseaseC4021790 denotes skeletal abnormalities
10077612-3#202#220#diseaseC0206762 600-618 diseaseC0206762 denotes limb malformations
10077612-3#242#263#diseaseC0018798 640-661 diseaseC0018798 denotes cardiac abnormalities
10077612-3#98#111#diseaseC0000768 496-509 diseaseC0000768 denotes malformations
10077612-3#127#149#diseaseC4021790 525-547 diseaseC4021790 denotes skeletal abnormalities
10077612-3#202#220#diseaseC0206762 600-618 diseaseC0206762 denotes limb malformations
10077612-3#242#263#diseaseC0018798 640-661 diseaseC0018798 denotes cardiac abnormalities
169#178#geners104894382202#220#diseaseC0206762 10077612-3#169#178#geners104894382 10077612-3#202#220#diseaseC0206762 associated_with Arg237Trp,limb malformations
169#178#geners104894382242#263#diseaseC0018798 10077612-3#169#178#geners104894382 10077612-3#242#263#diseaseC0018798 associated_with Arg237Trp,cardiac abnormalities
169#178#geners10489438298#111#diseaseC0000768 10077612-3#169#178#geners104894382 10077612-3#98#111#diseaseC0000768 associated_with Arg237Trp,malformations
169#178#geners104894382127#149#diseaseC4021790 10077612-3#169#178#geners104894382 10077612-3#127#149#diseaseC4021790 associated_with Arg237Trp,skeletal abnormalities
169#178#geners104894382202#220#diseaseC0206762 10077612-3#169#178#geners104894382 10077612-3#202#220#diseaseC0206762 associated_with Arg237Trp,limb malformations
169#178#geners104894382242#263#diseaseC0018798 10077612-3#169#178#geners104894382 10077612-3#242#263#diseaseC0018798 associated_with Arg237Trp,cardiac abnormalities
169#178#geners10489438298#111#diseaseC0000768 10077612-3#169#178#geners104894382 10077612-3#98#111#diseaseC0000768 associated_with Arg237Trp,malformations
169#178#geners104894382127#149#diseaseC4021790 10077612-3#169#178#geners104894382 10077612-3#127#149#diseaseC4021790 associated_with Arg237Trp,skeletal abnormalities
169#178#geners104894382202#220#diseaseC0206762 10077612-3#169#178#geners104894382 10077612-3#202#220#diseaseC0206762 associated_with Arg237Trp,limb malformations
169#178#geners104894382242#263#diseaseC0018798 10077612-3#169#178#geners104894382 10077612-3#242#263#diseaseC0018798 associated_with Arg237Trp,cardiac abnormalities
62#70#geners104894381202#220#diseaseC0206762 10077612-3#62#70#geners104894381 10077612-3#202#220#diseaseC0206762 associated_with Gly80Arg,limb malformations
62#70#geners104894381242#263#diseaseC0018798 10077612-3#62#70#geners104894381 10077612-3#242#263#diseaseC0018798 associated_with Gly80Arg,cardiac abnormalities
62#70#geners10489438198#111#diseaseC0000768 10077612-3#62#70#geners104894381 10077612-3#98#111#diseaseC0000768 associated_with Gly80Arg,malformations
62#70#geners104894381127#149#diseaseC4021790 10077612-3#62#70#geners104894381 10077612-3#127#149#diseaseC4021790 associated_with Gly80Arg,skeletal abnormalities
62#70#geners104894381202#220#diseaseC0206762 10077612-3#62#70#geners104894381 10077612-3#202#220#diseaseC0206762 associated_with Gly80Arg,limb malformations
62#70#geners104894381242#263#diseaseC0018798 10077612-3#62#70#geners104894381 10077612-3#242#263#diseaseC0018798 associated_with Gly80Arg,cardiac abnormalities
62#70#geners10489438198#111#diseaseC0000768 10077612-3#62#70#geners104894381 10077612-3#98#111#diseaseC0000768 associated_with Gly80Arg,malformations
62#70#geners104894381127#149#diseaseC4021790 10077612-3#62#70#geners104894381 10077612-3#127#149#diseaseC4021790 associated_with Gly80Arg,skeletal abnormalities
62#70#geners104894381202#220#diseaseC0206762 10077612-3#62#70#geners104894381 10077612-3#202#220#diseaseC0206762 associated_with Gly80Arg,limb malformations
62#70#geners104894381242#263#diseaseC0018798 10077612-3#62#70#geners104894381 10077612-3#242#263#diseaseC0018798 associated_with Gly80Arg,cardiac abnormalities
155#164#geners104894378202#220#diseaseC0206762 10077612-3#155#164#geners104894378 10077612-3#202#220#diseaseC0206762 associated_with Arg237Gln,limb malformations
155#164#geners104894378242#263#diseaseC0018798 10077612-3#155#164#geners104894378 10077612-3#242#263#diseaseC0018798 associated_with Arg237Gln,cardiac abnormalities
155#164#geners10489437898#111#diseaseC0000768 10077612-3#155#164#geners104894378 10077612-3#98#111#diseaseC0000768 associated_with Arg237Gln,malformations
155#164#geners104894378127#149#diseaseC4021790 10077612-3#155#164#geners104894378 10077612-3#127#149#diseaseC4021790 associated_with Arg237Gln,skeletal abnormalities
155#164#geners104894378202#220#diseaseC0206762 10077612-3#155#164#geners104894378 10077612-3#202#220#diseaseC0206762 associated_with Arg237Gln,limb malformations
155#164#geners104894378242#263#diseaseC0018798 10077612-3#155#164#geners104894378 10077612-3#242#263#diseaseC0018798 associated_with Arg237Gln,cardiac abnormalities
155#164#geners10489437898#111#diseaseC0000768 10077612-3#155#164#geners104894378 10077612-3#98#111#diseaseC0000768 associated_with Arg237Gln,malformations
155#164#geners104894378127#149#diseaseC4021790 10077612-3#155#164#geners104894378 10077612-3#127#149#diseaseC4021790 associated_with Arg237Gln,skeletal abnormalities
155#164#geners104894378202#220#diseaseC0206762 10077612-3#155#164#geners104894378 10077612-3#202#220#diseaseC0206762 associated_with Arg237Gln,limb malformations
155#164#geners104894378242#263#diseaseC0018798 10077612-3#155#164#geners104894378 10077612-3#242#263#diseaseC0018798 associated_with Arg237Gln,cardiac abnormalities

DisGeNET5_gene_disease

Id Subject Object Predicate Lexical cue
10077612-0#10#14#gene6910 10-14 gene6910 denotes TBX5
10077612-0#57#75#diseaseC0265264 57-75 diseaseC0265264 denotes Holt-Oram syndrome
10#14#gene691057#75#diseaseC0265264 10077612-0#10#14#gene6910 10077612-0#57#75#diseaseC0265264 associated_with TBX5,Holt-Oram syndrome

DisGeNET

Id Subject Object Predicate Lexical cue
T0 10-14 gene:6910 denotes TBX5
T1 57-75 disease:C0265264 denotes Holt-Oram syndrome
R1 T0 T1 associated_with TBX5,Holt-Oram syndrome

PubmedHPO

Id Subject Object Predicate Lexical cue
T1 488-509 HP_0001627 denotes cardiac malformations
T2 525-547 HP_0000924 denotes skeletal abnormalities
T3 594-618 HP_0002817 denotes upper limb malformations
T4 600-618 HP_0040064 denotes limb malformations
T5 600-618 HP_0002813 denotes limb malformations
T6 640-661 HP_0001627 denotes cardiac abnormalities