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PubMed:10029606 JSONTXT

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PubTator4TogoVar

Id Subject Object Predicate Lexical cue proteinmutation
10029606_0 542-547 ProteinMutation denotes R452C rs137852311
10029606_1 849-854 ProteinMutation denotes C282Y rs1800562
10029606_2 1087-1092 ProteinMutation denotes C282Y rs1800562
10029606_3 1405-1410 ProteinMutation denotes R452C rs137852311

sentences

Id Subject Object Predicate Lexical cue
TextSentencer_T1 0-253 Sentence denotes Four new mutations in the erythroid-specific 5-aminolevulinate synthase (ALAS2) gene causing X-linked sideroblastic anemia: increased pyridoxine responsiveness after removal of iron overload by phlebotomy and coinheritance of hereditary hemochromatosis.
TextSentencer_T2 254-422 Sentence denotes X-linked sideroblastic anemia (XLSA) in four unrelated male probands was caused by missense mutations in the erythroid-specific 5-aminolevulinate synthase gene (ALAS2).
TextSentencer_T3 423-548 Sentence denotes All were new mutations: T647C, C1283T, G1395A, and C1406T predicting amino acid substitutions Y199H, R411C, R448Q, and R452C.
TextSentencer_T4 549-600 Sentence denotes All probands were clinically pyridoxine-responsive.
TextSentencer_T5 601-731 Sentence denotes The mutation Y199H was shown to be the first de novo XLSA mutation and occurred in a gamete of the proband's maternal grandfather.
TextSentencer_T6 732-1011 Sentence denotes There was a significantly higher frequency of coinheritance of the hereditary hemochromatosis (HH) HFE mutant allele C282Y in 18 unrelated XLSA hemizygotes than found in the normal population, indicating a role for coinheritance of HFE alleles in the expression of this disorder.
TextSentencer_T7 1012-1104 Sentence denotes One proband (Y199H) with severe and early iron loading coinherited HH as a C282Y homozygote.
TextSentencer_T8 1105-1229 Sentence denotes The clinical and hematologic histories of two XLSA probands suggest that iron overload suppresses pyridoxine responsiveness.
TextSentencer_T9 1230-1383 Sentence denotes Notably, reversal of the iron overload in the Y199H proband by phlebotomy resulted in higher hemoglobin concentrations during pyridoxine supplementation.
TextSentencer_T10 1384-1483 Sentence denotes The proband with the R452C mutation was symptom-free on occasional phlebotomy and daily pyridoxine.
TextSentencer_T11 1484-1683 Sentence denotes These studies indicate the value of combined phlebotomy and pyridoxine supplementation in the management of XLSA probands in order to prevent a downward spiral of iron toxicity and refractory anemia.
T1 0-253 Sentence denotes Four new mutations in the erythroid-specific 5-aminolevulinate synthase (ALAS2) gene causing X-linked sideroblastic anemia: increased pyridoxine responsiveness after removal of iron overload by phlebotomy and coinheritance of hereditary hemochromatosis.
T2 254-422 Sentence denotes X-linked sideroblastic anemia (XLSA) in four unrelated male probands was caused by missense mutations in the erythroid-specific 5-aminolevulinate synthase gene (ALAS2).
T3 423-548 Sentence denotes All were new mutations: T647C, C1283T, G1395A, and C1406T predicting amino acid substitutions Y199H, R411C, R448Q, and R452C.
T4 549-600 Sentence denotes All probands were clinically pyridoxine-responsive.
T5 601-731 Sentence denotes The mutation Y199H was shown to be the first de novo XLSA mutation and occurred in a gamete of the proband's maternal grandfather.
T6 732-1011 Sentence denotes There was a significantly higher frequency of coinheritance of the hereditary hemochromatosis (HH) HFE mutant allele C282Y in 18 unrelated XLSA hemizygotes than found in the normal population, indicating a role for coinheritance of HFE alleles in the expression of this disorder.
T7 1012-1104 Sentence denotes One proband (Y199H) with severe and early iron loading coinherited HH as a C282Y homozygote.
T8 1105-1229 Sentence denotes The clinical and hematologic histories of two XLSA probands suggest that iron overload suppresses pyridoxine responsiveness.
T9 1230-1383 Sentence denotes Notably, reversal of the iron overload in the Y199H proband by phlebotomy resulted in higher hemoglobin concentrations during pyridoxine supplementation.
T10 1384-1483 Sentence denotes The proband with the R452C mutation was symptom-free on occasional phlebotomy and daily pyridoxine.
T11 1484-1683 Sentence denotes These studies indicate the value of combined phlebotomy and pyridoxine supplementation in the management of XLSA probands in order to prevent a downward spiral of iron toxicity and refractory anemia.

DisGeNET5_variant_disease

Id Subject Object Predicate Lexical cue
10029606-4#13#18#geners137852310 614-619 geners137852310 denotes Y199H
10029606-4#53#57#diseaseC0221018 654-658 diseaseC0221018 denotes XLSA
10029606-5#117#122#geners1800562 849-854 geners1800562 denotes C282Y
10029606-5#139#143#diseaseC0221018 871-875 diseaseC0221018 denotes XLSA
10029606-6#75#80#geners1800562 1087-1092 geners1800562 denotes C282Y
10029606-6#13#18#geners137852310 1025-1030 geners137852310 denotes Y199H
10029606-6#67#69#diseaseC0392514 1079-1081 diseaseC0392514 denotes HH
10029606-8#46#51#geners137852310 1276-1281 geners137852310 denotes Y199H
10029606-8#25#38#diseaseC0282193 1255-1268 diseaseC0282193 denotes iron overload
13#18#geners13785231053#57#diseaseC0221018 10029606-4#13#18#geners137852310 10029606-4#53#57#diseaseC0221018 associated_with Y199H,XLSA
117#122#geners1800562139#143#diseaseC0221018 10029606-5#117#122#geners1800562 10029606-5#139#143#diseaseC0221018 associated_with C282Y,XLSA
75#80#geners180056267#69#diseaseC0392514 10029606-6#75#80#geners1800562 10029606-6#67#69#diseaseC0392514 associated_with C282Y,HH
13#18#geners13785231067#69#diseaseC0392514 10029606-6#13#18#geners137852310 10029606-6#67#69#diseaseC0392514 associated_with Y199H,HH
46#51#geners13785231025#38#diseaseC0282193 10029606-8#46#51#geners137852310 10029606-8#25#38#diseaseC0282193 associated_with Y199H,iron overload

DisGeNET5_gene_disease

Id Subject Object Predicate Lexical cue
10029606-0#73#78#gene212 73-78 gene212 denotes ALAS2
10029606-0#93#122#diseaseC0221018 93-122 diseaseC0221018 denotes X-linked sideroblastic anemia
10029606-0#177#190#diseaseC0282193 177-190 diseaseC0282193 denotes iron overload
10029606-0#226#252#diseaseC0392514 226-252 diseaseC0392514 denotes hereditary hemochromatosis
10029606-5#99#102#gene3077 831-834 gene3077 denotes HFE
10029606-5#232#235#gene3077 964-967 gene3077 denotes HFE
10029606-5#67#93#diseaseC0392514 799-825 diseaseC0392514 denotes hereditary hemochromatosis
10029606-5#95#97#diseaseC0392514 827-829 diseaseC0392514 denotes HH
10029606-5#139#143#diseaseC0221018 871-875 diseaseC0221018 denotes XLSA
10029606-5#67#93#diseaseC0392514 799-825 diseaseC0392514 denotes hereditary hemochromatosis
10029606-5#95#97#diseaseC0392514 827-829 diseaseC0392514 denotes HH
10029606-5#139#143#diseaseC0221018 871-875 diseaseC0221018 denotes XLSA
73#78#gene21293#122#diseaseC0221018 10029606-0#73#78#gene212 10029606-0#93#122#diseaseC0221018 associated_with ALAS2,X-linked sideroblastic anemia
73#78#gene212177#190#diseaseC0282193 10029606-0#73#78#gene212 10029606-0#177#190#diseaseC0282193 associated_with ALAS2,iron overload
73#78#gene212226#252#diseaseC0392514 10029606-0#73#78#gene212 10029606-0#226#252#diseaseC0392514 associated_with ALAS2,hereditary hemochromatosis
99#102#gene307767#93#diseaseC0392514 10029606-5#99#102#gene3077 10029606-5#67#93#diseaseC0392514 associated_with HFE,hereditary hemochromatosis
99#102#gene307795#97#diseaseC0392514 10029606-5#99#102#gene3077 10029606-5#95#97#diseaseC0392514 associated_with HFE,HH
99#102#gene3077139#143#diseaseC0221018 10029606-5#99#102#gene3077 10029606-5#139#143#diseaseC0221018 associated_with HFE,XLSA
99#102#gene307767#93#diseaseC0392514 10029606-5#99#102#gene3077 10029606-5#67#93#diseaseC0392514 associated_with HFE,hereditary hemochromatosis
99#102#gene307795#97#diseaseC0392514 10029606-5#99#102#gene3077 10029606-5#95#97#diseaseC0392514 associated_with HFE,HH
99#102#gene3077139#143#diseaseC0221018 10029606-5#99#102#gene3077 10029606-5#139#143#diseaseC0221018 associated_with HFE,XLSA
232#235#gene307767#93#diseaseC0392514 10029606-5#232#235#gene3077 10029606-5#67#93#diseaseC0392514 associated_with HFE,hereditary hemochromatosis
232#235#gene307795#97#diseaseC0392514 10029606-5#232#235#gene3077 10029606-5#95#97#diseaseC0392514 associated_with HFE,HH
232#235#gene3077139#143#diseaseC0221018 10029606-5#232#235#gene3077 10029606-5#139#143#diseaseC0221018 associated_with HFE,XLSA
232#235#gene307767#93#diseaseC0392514 10029606-5#232#235#gene3077 10029606-5#67#93#diseaseC0392514 associated_with HFE,hereditary hemochromatosis
232#235#gene307795#97#diseaseC0392514 10029606-5#232#235#gene3077 10029606-5#95#97#diseaseC0392514 associated_with HFE,HH
232#235#gene3077139#143#diseaseC0221018 10029606-5#232#235#gene3077 10029606-5#139#143#diseaseC0221018 associated_with HFE,XLSA

PubCasesHPO

Id Subject Object Predicate Lexical cue
AB1 263-283 HP:0001924 denotes sideroblastic anemia
TI1 102-122 HP:0001924 denotes sideroblastic anemia
AB2 1665-1682 HP:0005505 denotes refractory anemia

PubCasesORDO

Id Subject Object Predicate Lexical cue
AB1 254-283 ORDO:75563 denotes X-linked sideroblastic anemia
AB2 285-289 ORDO:75563 denotes XLSA
TI1 93-122 ORDO:75563 denotes X-linked sideroblastic anemia
AB3 654-658 ORDO:75563 denotes XLSA
AB4 871-875 ORDO:75563 denotes XLSA
AB5 1151-1155 ORDO:75563 denotes XLSA
AB6 1592-1596 ORDO:75563 denotes XLSA
AB7 1665-1682 ORDO:98826 denotes refractory anemia

PubmedHPO

Id Subject Object Predicate Lexical cue
T1 254-262 HP_0001417 denotes X-linked
T2 263-283 HP_0001924 denotes sideroblastic anemia
T3 277-283 HP_0001903 denotes anemia
T4 1665-1682 HP_0005505 denotes refractory anemia
T5 1676-1682 HP_0001903 denotes anemia

DisGeNET

Id Subject Object Predicate Lexical cue
T0 415-420 gene:212 denotes ALAS2
T1 254-283 disease:C0221018 denotes X-linked sideroblastic anemia
T2 415-420 gene:212 denotes ALAS2
T3 285-289 disease:C0221018 denotes XLSA
R1 T0 T1 associated_with ALAS2,X-linked sideroblastic anemia
R2 T2 T3 associated_with ALAS2,XLSA