PubMed:10029606
Annnotations
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 |