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PubMed:16446107 JSONTXT

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PubTator4TogoVar

Id Subject Object Predicate Lexical cue proteinmutation
16446107_0 26-31 ProteinMutation denotes P520L rs201062903
16446107_1 604-609 ProteinMutation denotes P520L rs201062903
16446107_2 893-898 ProteinMutation denotes P520L rs201062903
16446107_3 951-956 ProteinMutation denotes P520L rs201062903
16446107_4 1267-1272 ProteinMutation denotes P520L rs201062903

DisGeNET

Id Subject Object Predicate Lexical cue
T0 350-355 gene:212 denotes ALAS2
T1 395-408 disease:C0282193 denotes iron overload
T2 435-440 gene:212 denotes ALAS2
T3 525-545 disease:C0002896 denotes sideroblastic anemia
T4 435-440 gene:212 denotes ALAS2
T5 480-503 disease:C0392514 denotes primary hemochromatosis
T6 435-440 gene:212 denotes ALAS2
T7 558-571 disease:C0282193 denotes iron overload
R1 T0 T1 associated_with ALAS2,iron overload
R2 T2 T3 associated_with ALAS2,sideroblastic anemia
R3 T4 T5 associated_with ALAS2,primary hemochromatosis
R4 T6 T7 associated_with ALAS2,iron overload

PubmedHPO

Id Subject Object Predicate Lexical cue
T1 242-262 HP_0001924 denotes sideroblastic anemia
T2 256-262 HP_0001903 denotes anemia
T3 525-545 HP_0001924 denotes sideroblastic anemia
T4 539-545 HP_0001903 denotes anemia
T5 692-698 HP_0001903 denotes anemia
T6 824-844 HP_0001924 denotes sideroblastic anemia
T7 838-844 HP_0001903 denotes anemia

DisGeNET5_variant_disease

Id Subject Object Predicate Lexical cue
16446107-0#26#31#geners201062903 26-31 geners201062903 denotes P520L
16446107-0#36#48#geners201062903 36-48 geners201062903 denotes 1559 C --> T
16446107-0#119#139#diseaseC0002896 119-139 diseaseC0002896 denotes sideroblastic anemia
16446107-0#151#164#diseaseC0282193 151-164 diseaseC0282193 denotes iron overload
16446107-0#91#104#diseaseC0282193 91-104 diseaseC0282193 denotes iron overload
16446107-0#119#139#diseaseC0002896 119-139 diseaseC0002896 denotes sideroblastic anemia
16446107-0#151#164#diseaseC0282193 151-164 diseaseC0282193 denotes iron overload
16446107-5#61#66#geners1800562 717-722 geners1800562 denotes C282Y
16446107-5#15#28#diseaseC0282193 671-684 diseaseC0282193 denotes iron overload
16446107-5#36#42#diseaseC0002871 692-698 diseaseC0002871 denotes anemia
26#31#geners201062903119#139#diseaseC0002896 16446107-0#26#31#geners201062903 16446107-0#119#139#diseaseC0002896 associated_with P520L,sideroblastic anemia
26#31#geners201062903151#164#diseaseC0282193 16446107-0#26#31#geners201062903 16446107-0#151#164#diseaseC0282193 associated_with P520L,iron overload
26#31#geners20106290391#104#diseaseC0282193 16446107-0#26#31#geners201062903 16446107-0#91#104#diseaseC0282193 associated_with P520L,iron overload
26#31#geners201062903119#139#diseaseC0002896 16446107-0#26#31#geners201062903 16446107-0#119#139#diseaseC0002896 associated_with P520L,sideroblastic anemia
26#31#geners201062903151#164#diseaseC0282193 16446107-0#26#31#geners201062903 16446107-0#151#164#diseaseC0282193 associated_with P520L,iron overload
36#48#geners201062903119#139#diseaseC0002896 16446107-0#36#48#geners201062903 16446107-0#119#139#diseaseC0002896 associated_with 1559 C --> T,sideroblastic anemia
36#48#geners201062903151#164#diseaseC0282193 16446107-0#36#48#geners201062903 16446107-0#151#164#diseaseC0282193 associated_with 1559 C --> T,iron overload
36#48#geners20106290391#104#diseaseC0282193 16446107-0#36#48#geners201062903 16446107-0#91#104#diseaseC0282193 associated_with 1559 C --> T,iron overload
36#48#geners201062903119#139#diseaseC0002896 16446107-0#36#48#geners201062903 16446107-0#119#139#diseaseC0002896 associated_with 1559 C --> T,sideroblastic anemia
36#48#geners201062903151#164#diseaseC0282193 16446107-0#36#48#geners201062903 16446107-0#151#164#diseaseC0282193 associated_with 1559 C --> T,iron overload
61#66#geners180056215#28#diseaseC0282193 16446107-5#61#66#geners1800562 16446107-5#15#28#diseaseC0282193 associated_with C282Y,iron overload
61#66#geners180056236#42#diseaseC0002871 16446107-5#61#66#geners1800562 16446107-5#36#42#diseaseC0002871 associated_with C282Y,anemia

DisGeNET5_gene_disease

Id Subject Object Predicate Lexical cue
16446107-0#20#25#gene212 20-25 gene212 denotes ALAS2
16446107-0#91#104#diseaseC0282193 91-104 diseaseC0282193 denotes iron overload
16446107-0#119#139#diseaseC0002896 119-139 diseaseC0002896 denotes sideroblastic anemia
16446107-0#151#164#diseaseC0282193 151-164 diseaseC0282193 denotes iron overload
16446107-10#6#11#gene212 1458-1463 gene212 denotes ALAS2
16446107-10#83#106#diseaseC0392514 1535-1558 diseaseC0392514 denotes primary hemochromatosis
16446107-5#57#60#gene3077 713-716 gene3077 denotes HFE
16446107-5#112#115#gene3077 768-771 gene3077 denotes HFE
16446107-5#36#42#diseaseC0002871 692-698 diseaseC0002871 denotes anemia
16446107-9#206#209#gene3077 1400-1403 gene3077 denotes HFE
16446107-9#235#250#gene3077 1429-1444 gene3077 denotes hemochromatosis
16446107-9#160#173#diseaseC0282193 1354-1367 diseaseC0282193 denotes iron overload
20#25#gene21291#104#diseaseC0282193 16446107-0#20#25#gene212 16446107-0#91#104#diseaseC0282193 associated_with ALAS2,iron overload
20#25#gene212119#139#diseaseC0002896 16446107-0#20#25#gene212 16446107-0#119#139#diseaseC0002896 associated_with ALAS2,sideroblastic anemia
20#25#gene212151#164#diseaseC0282193 16446107-0#20#25#gene212 16446107-0#151#164#diseaseC0282193 associated_with ALAS2,iron overload
6#11#gene21283#106#diseaseC0392514 16446107-10#6#11#gene212 16446107-10#83#106#diseaseC0392514 associated_with ALAS2,primary hemochromatosis
57#60#gene307736#42#diseaseC0002871 16446107-5#57#60#gene3077 16446107-5#36#42#diseaseC0002871 associated_with HFE,anemia
112#115#gene307736#42#diseaseC0002871 16446107-5#112#115#gene3077 16446107-5#36#42#diseaseC0002871 associated_with HFE,anemia
206#209#gene3077160#173#diseaseC0282193 16446107-9#206#209#gene3077 16446107-9#160#173#diseaseC0282193 associated_with HFE,iron overload
235#250#gene3077160#173#diseaseC0282193 16446107-9#235#250#gene3077 16446107-9#160#173#diseaseC0282193 associated_with hemochromatosis,iron overload