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PubMed:17001622 JSONTXT

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DisGeNET

Id Subject Object Predicate Lexical cue
T0 49-52 gene:472 denotes ATM
T1 24-37 disease:C0006142 denotes breast cancer
T2 49-52 gene:472 denotes ATM
T3 24-37 disease:C0678222 denotes breast cancer
T4 122-125 gene:472 denotes ATM
T5 179-200 disease:C0004135 denotes ataxia telangiectasia
T6 228-231 gene:472 denotes ATM
T7 278-291 disease:C0678222 denotes breast cancer
T8 228-231 gene:472 denotes ATM
T9 278-291 disease:C0006142 denotes breast cancer
T10 350-353 gene:472 denotes ATM
T11 320-333 disease:C0006142 denotes breast cancer
T12 350-353 gene:472 denotes ATM
T13 320-333 disease:C0678222 denotes breast cancer
R1 T0 T1 associated_with ATM,breast cancer
R2 T2 T3 associated_with ATM,breast cancer
R3 T4 T5 associated_with ATM,ataxia telangiectasia
R4 T6 T7 associated_with ATM,breast cancer
R5 T8 T9 associated_with ATM,breast cancer
R6 T10 T11 associated_with ATM,breast cancer
R7 T12 T13 associated_with ATM,breast cancer

PubmedHPO

Id Subject Object Predicate Lexical cue
T1 150-169 HP_0000007 denotes autosomal recessive
T2 179-185 HP_0001251 denotes ataxia
T3 186-200 HP_0001009 denotes telangiectasia
T4 278-291 HP_0003002 denotes breast cancer
T5 278-291 HP_0100013 denotes breast cancer
T6 285-291 HP_0002664 denotes cancer
T7 320-333 HP_0003002 denotes breast cancer
T8 320-333 HP_0100013 denotes breast cancer
T9 327-333 HP_0002664 denotes cancer
T10 497-510 HP_0003002 denotes breast cancer
T11 497-510 HP_0100013 denotes breast cancer
T12 504-510 HP_0002664 denotes cancer
T13 1460-1473 HP_0003002 denotes breast cancer
T14 1460-1473 HP_0100013 denotes breast cancer
T15 1467-1473 HP_0002664 denotes cancer
T1 150-169 HP_0000007 denotes autosomal recessive
T2 179-185 HP_0001251 denotes ataxia
T3 186-200 HP_0001009 denotes telangiectasia
T4 278-291 HP_0003002 denotes breast cancer
T5 278-291 HP_0100013 denotes breast cancer
T6 285-291 HP_0002664 denotes cancer
T7 320-333 HP_0003002 denotes breast cancer
T8 320-333 HP_0100013 denotes breast cancer
T9 327-333 HP_0002664 denotes cancer
T10 497-510 HP_0003002 denotes breast cancer
T11 497-510 HP_0100013 denotes breast cancer
T12 504-510 HP_0002664 denotes cancer
T13 1460-1473 HP_0003002 denotes breast cancer
T14 1460-1473 HP_0100013 denotes breast cancer
T15 1467-1473 HP_0002664 denotes cancer

DisGeNET5_variant_disease

Id Subject Object Predicate Lexical cue
17001622-0#53#60#geners28904921 53-60 geners28904921 denotes 7271T>G
17001622-0#62#68#geners28904921 62-68 geners28904921 denotes V2424G
17001622-0#24#37#diseaseC0006142 24-37 diseaseC0006142 denotes breast cancer
17001622-0#24#37#diseaseC0678222 24-37 diseaseC0678222 denotes breast cancer
17001622-0#24#37#diseaseC0006142 24-37 diseaseC0006142 denotes breast cancer
17001622-0#24#37#diseaseC0678222 24-37 diseaseC0678222 denotes breast cancer
53#60#geners2890492124#37#diseaseC0006142 17001622-0#53#60#geners28904921 17001622-0#24#37#diseaseC0006142 associated_with 7271T>G,breast cancer
53#60#geners2890492124#37#diseaseC0678222 17001622-0#53#60#geners28904921 17001622-0#24#37#diseaseC0678222 associated_with 7271T>G,breast cancer
53#60#geners2890492124#37#diseaseC0006142 17001622-0#53#60#geners28904921 17001622-0#24#37#diseaseC0006142 associated_with 7271T>G,breast cancer
53#60#geners2890492124#37#diseaseC0678222 17001622-0#53#60#geners28904921 17001622-0#24#37#diseaseC0678222 associated_with 7271T>G,breast cancer
62#68#geners2890492124#37#diseaseC0006142 17001622-0#62#68#geners28904921 17001622-0#24#37#diseaseC0006142 associated_with V2424G,breast cancer
62#68#geners2890492124#37#diseaseC0678222 17001622-0#62#68#geners28904921 17001622-0#24#37#diseaseC0678222 associated_with V2424G,breast cancer
62#68#geners2890492124#37#diseaseC0006142 17001622-0#62#68#geners28904921 17001622-0#24#37#diseaseC0006142 associated_with V2424G,breast cancer
62#68#geners2890492124#37#diseaseC0678222 17001622-0#62#68#geners28904921 17001622-0#24#37#diseaseC0678222 associated_with V2424G,breast cancer

DisGeNET5_gene_disease

Id Subject Object Predicate Lexical cue
17001622-0#49#52#gene472 49-52 gene472 denotes ATM
17001622-0#24#37#diseaseC0006142 24-37 diseaseC0006142 denotes breast cancer
17001622-0#24#37#diseaseC0678222 24-37 diseaseC0678222 denotes breast cancer
17001622-1#13#16#gene472 228-231 gene472 denotes ATM
17001622-1#41#69#diseaseC3899988 681-1102 diseaseC3899988 denotes ariant is likely to interfere with function. To elucidate the consequences of this mutation, we expression profiled wild-type, heterozygous, and homozygous lymphoblastoid cell lines (LCLs) from Scottish and Australian families using an oligonucleotide microarray. Cluster analysis revealed 77 genes that were differentially expressed in homozygous and heterozygous V2424G cells (compared to wild-type) and 11 genes differ
17001622-1#70#91#diseaseC0004135 1149-1556 diseaseC0004135 denotes also evaluated the profiles of LCLs after exposure to ionizing radiation (IR) and identified 77 genes that were differentially expressed in wild-type cells, but not in homozygous or heterozygous V2424G cells. We validated the expression differences by RT-PCR in additional heterozygous V2424G LCLs from another breast cancer family. We found no consistent cytotoxicity or abrogation of ATM kinase activity a
17001622-10#53#56#gene472 1535-1538 gene472 denotes ATM
17001622-10#187#210#diseaseC0008626 1669-1692 diseaseC0008626 denotes chromosomal aberrations
49#52#gene47224#37#diseaseC0006142 17001622-0#49#52#gene472 17001622-0#24#37#diseaseC0006142 associated_with ATM,breast cancer
49#52#gene47224#37#diseaseC0678222 17001622-0#49#52#gene472 17001622-0#24#37#diseaseC0678222 associated_with ATM,breast cancer
13#16#gene47241#69#diseaseC3899988 17001622-1#13#16#gene472 17001622-1#41#69#diseaseC3899988 associated_with ATM,"ariant is likely to interfere with function. To elucidate the consequences of this mutation, we expression profiled wild-type, heterozygous, and homozygous lymphoblastoid cell lines (LCLs) from Scottish and Australian families using an oligonucleotide microarray. Cluster analysis revealed 77 genes that were differentially expressed in homozygous and heterozygous V2424G cells (compared to wild-type) and 11 genes differ"
13#16#gene47270#91#diseaseC0004135 17001622-1#13#16#gene472 17001622-1#70#91#diseaseC0004135 associated_with ATM,"also evaluated the profiles of LCLs after exposure to ionizing radiation (IR) and identified 77 genes that were differentially expressed in wild-type cells, but not in homozygous or heterozygous V2424G cells. We validated the expression differences by RT-PCR in additional heterozygous V2424G LCLs from another breast cancer family. We found no consistent cytotoxicity or abrogation of ATM kinase activity a"
53#56#gene472187#210#diseaseC0008626 17001622-10#53#56#gene472 17001622-10#187#210#diseaseC0008626 associated_with ATM,chromosomal aberrations