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PubMed:10194428 JSONTXT

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PubTator4TogoVar

Id Subject Object Predicate Lexical cue proteinmutation
10194428_0 69-73 ProteinMutation denotes S65C rs1800730
10194428_1 363-368 ProteinMutation denotes C282Y rs1800562
10194428_2 419-423 ProteinMutation denotes H63D rs1799945
10194428_3 510-515 ProteinMutation denotes C282Y rs1800562
10194428_4 566-571 ProteinMutation denotes C282Y rs1800562
10194428_5 573-577 ProteinMutation denotes H63D rs1799945
10194428_6 624-628 ProteinMutation denotes S65C rs1800730
10194428_7 724-729 ProteinMutation denotes C282Y rs1800562
10194428_8 849-853 ProteinMutation denotes H63D rs1799945
10194428_9 928-933 ProteinMutation denotes C282Y rs1800562
10194428_10 987-991 ProteinMutation denotes S65C rs1800730
10194428_11 1176-1181 ProteinMutation denotes C282Y rs1800562
10194428_12 1186-1190 ProteinMutation denotes H63D rs1799945
10194428_13 1211-1215 ProteinMutation denotes S65C rs1800730
10194428_14 1255-1259 ProteinMutation denotes S65C rs1800730

DisGeNET5_variant_disease

Id Subject Object Predicate Lexical cue
10194428-0#69#73#geners1800730 69-73 geners1800730 denotes S65C
10194428-0#30#45#diseaseC0018995 30-45 diseaseC0018995 denotes hemochromatosis
10194428-0#30#45#diseaseC3469186 30-45 diseaseC3469186 denotes hemochromatosis
10194428-0#102#117#diseaseC0018995 102-117 diseaseC0018995 denotes hemochromatosis
10194428-0#102#117#diseaseC3469186 102-117 diseaseC3469186 denotes hemochromatosis
10194428-5#233#238#geners1800562 928-933 geners1800562 denotes C282Y
10194428-5#29#34#geners1800562 724-729 geners1800562 denotes C282Y
10194428-5#154#158#geners1799945 849-853 geners1799945 denotes H63D
10194428-5#82#97#diseaseC0018995 777-792 diseaseC0018995 denotes hemochromatosis
10194428-5#82#97#diseaseC3469186 777-792 diseaseC3469186 denotes hemochromatosis
10194428-5#82#97#diseaseC0018995 777-792 diseaseC0018995 denotes hemochromatosis
10194428-5#82#97#diseaseC3469186 777-792 diseaseC3469186 denotes hemochromatosis
10194428-5#82#97#diseaseC0018995 777-792 diseaseC0018995 denotes hemochromatosis
10194428-5#82#97#diseaseC3469186 777-792 diseaseC3469186 denotes hemochromatosis
10194428-5#195#197#diseaseC0392514 890-892 diseaseC0392514 denotes HH
10194428-7#73#78#geners1800562 1176-1181 geners1800562 denotes C282Y
10194428-7#40#42#diseaseC0392514 1143-1145 diseaseC0392514 denotes HH
10194428-8#19#23#geners1800730 1211-1215 geners1800730 denotes S65C
10194428-8#63#67#geners1800730 1255-1259 geners1800730 denotes S65C
10194428-8#30#32#diseaseC0392514 1222-1224 diseaseC0392514 denotes HH
69#73#geners180073030#45#diseaseC0018995 10194428-0#69#73#geners1800730 10194428-0#30#45#diseaseC0018995 associated_with S65C,hemochromatosis
69#73#geners180073030#45#diseaseC3469186 10194428-0#69#73#geners1800730 10194428-0#30#45#diseaseC3469186 associated_with S65C,hemochromatosis
69#73#geners1800730102#117#diseaseC0018995 10194428-0#69#73#geners1800730 10194428-0#102#117#diseaseC0018995 associated_with S65C,hemochromatosis
69#73#geners1800730102#117#diseaseC3469186 10194428-0#69#73#geners1800730 10194428-0#102#117#diseaseC3469186 associated_with S65C,hemochromatosis
233#238#geners180056282#97#diseaseC0018995 10194428-5#233#238#geners1800562 10194428-5#82#97#diseaseC0018995 associated_with C282Y,hemochromatosis
233#238#geners180056282#97#diseaseC3469186 10194428-5#233#238#geners1800562 10194428-5#82#97#diseaseC3469186 associated_with C282Y,hemochromatosis
233#238#geners180056282#97#diseaseC0018995 10194428-5#233#238#geners1800562 10194428-5#82#97#diseaseC0018995 associated_with C282Y,hemochromatosis
233#238#geners180056282#97#diseaseC3469186 10194428-5#233#238#geners1800562 10194428-5#82#97#diseaseC3469186 associated_with C282Y,hemochromatosis
233#238#geners180056282#97#diseaseC0018995 10194428-5#233#238#geners1800562 10194428-5#82#97#diseaseC0018995 associated_with C282Y,hemochromatosis
233#238#geners180056282#97#diseaseC3469186 10194428-5#233#238#geners1800562 10194428-5#82#97#diseaseC3469186 associated_with C282Y,hemochromatosis
233#238#geners1800562195#197#diseaseC0392514 10194428-5#233#238#geners1800562 10194428-5#195#197#diseaseC0392514 associated_with C282Y,HH
29#34#geners180056282#97#diseaseC0018995 10194428-5#29#34#geners1800562 10194428-5#82#97#diseaseC0018995 associated_with C282Y,hemochromatosis
29#34#geners180056282#97#diseaseC3469186 10194428-5#29#34#geners1800562 10194428-5#82#97#diseaseC3469186 associated_with C282Y,hemochromatosis
29#34#geners180056282#97#diseaseC0018995 10194428-5#29#34#geners1800562 10194428-5#82#97#diseaseC0018995 associated_with C282Y,hemochromatosis
29#34#geners180056282#97#diseaseC3469186 10194428-5#29#34#geners1800562 10194428-5#82#97#diseaseC3469186 associated_with C282Y,hemochromatosis
29#34#geners180056282#97#diseaseC0018995 10194428-5#29#34#geners1800562 10194428-5#82#97#diseaseC0018995 associated_with C282Y,hemochromatosis
29#34#geners180056282#97#diseaseC3469186 10194428-5#29#34#geners1800562 10194428-5#82#97#diseaseC3469186 associated_with C282Y,hemochromatosis
29#34#geners1800562195#197#diseaseC0392514 10194428-5#29#34#geners1800562 10194428-5#195#197#diseaseC0392514 associated_with C282Y,HH
154#158#geners179994582#97#diseaseC0018995 10194428-5#154#158#geners1799945 10194428-5#82#97#diseaseC0018995 associated_with H63D,hemochromatosis
154#158#geners179994582#97#diseaseC3469186 10194428-5#154#158#geners1799945 10194428-5#82#97#diseaseC3469186 associated_with H63D,hemochromatosis
154#158#geners179994582#97#diseaseC0018995 10194428-5#154#158#geners1799945 10194428-5#82#97#diseaseC0018995 associated_with H63D,hemochromatosis
154#158#geners179994582#97#diseaseC3469186 10194428-5#154#158#geners1799945 10194428-5#82#97#diseaseC3469186 associated_with H63D,hemochromatosis
154#158#geners179994582#97#diseaseC0018995 10194428-5#154#158#geners1799945 10194428-5#82#97#diseaseC0018995 associated_with H63D,hemochromatosis
154#158#geners179994582#97#diseaseC3469186 10194428-5#154#158#geners1799945 10194428-5#82#97#diseaseC3469186 associated_with H63D,hemochromatosis
154#158#geners1799945195#197#diseaseC0392514 10194428-5#154#158#geners1799945 10194428-5#195#197#diseaseC0392514 associated_with H63D,HH
73#78#geners180056240#42#diseaseC0392514 10194428-7#73#78#geners1800562 10194428-7#40#42#diseaseC0392514 associated_with C282Y,HH
19#23#geners180073030#32#diseaseC0392514 10194428-8#19#23#geners1800730 10194428-8#30#32#diseaseC0392514 associated_with S65C,HH
63#67#geners180073030#32#diseaseC0392514 10194428-8#63#67#geners1800730 10194428-8#30#32#diseaseC0392514 associated_with S65C,HH

DisGeNET5_gene_disease

Id Subject Object Predicate Lexical cue
10194428-0#0#3#gene3077 0-3 gene3077 denotes HFE
10194428-0#30#45#diseaseC0018995 30-45 diseaseC0018995 denotes hemochromatosis
10194428-0#30#45#diseaseC3469186 30-45 diseaseC3469186 denotes hemochromatosis
10194428-0#102#117#diseaseC0018995 102-117 diseaseC0018995 denotes hemochromatosis
10194428-0#102#117#diseaseC3469186 102-117 diseaseC3469186 denotes hemochromatosis
10194428-2#4#7#gene3077 224-227 gene3077 denotes HFE
10194428-2#72#74#diseaseC0392514 292-294 diseaseC0392514 denotes HH
0#3#gene307730#45#diseaseC0018995 10194428-0#0#3#gene3077 10194428-0#30#45#diseaseC0018995 associated_with HFE,hemochromatosis
0#3#gene307730#45#diseaseC3469186 10194428-0#0#3#gene3077 10194428-0#30#45#diseaseC3469186 associated_with HFE,hemochromatosis
0#3#gene3077102#117#diseaseC0018995 10194428-0#0#3#gene3077 10194428-0#102#117#diseaseC0018995 associated_with HFE,hemochromatosis
0#3#gene3077102#117#diseaseC3469186 10194428-0#0#3#gene3077 10194428-0#102#117#diseaseC3469186 associated_with HFE,hemochromatosis
4#7#gene307772#74#diseaseC0392514 10194428-2#4#7#gene3077 10194428-2#72#74#diseaseC0392514 associated_with HFE,HH

NCBIDiseaseCorpus

Id Subject Object Predicate Lexical cue
T1 30-45 Modifier:D016399 denotes hemochromatosis
T2 102-117 SpecificDisease:D006432 denotes hemochromatosis
T3 119-145 SpecificDisease:D006432 denotes Hereditary hemochromatosis
T4 147-149 SpecificDisease:D006432 denotes HH
T5 163-199 DiseaseClass:D030342 denotes autosomal recessive genetic disorder
T6 292-294 SpecificDisease:D006432 denotes HH
T7 399-401 Modifier:D006432 denotes HH
T8 516-518 Modifier:D006432 denotes HH
T9 777-792 SpecificDisease:D006432 denotes hemochromatosis
T10 890-892 Modifier:D006432 denotes HH
T11 1143-1145 Modifier:D006432 denotes HH
T12 1222-1224 Modifier:D006432 denotes HH
T13 1309-1324 SpecificDisease:D006432 denotes hemochromatosis

PubmedHPO

Id Subject Object Predicate Lexical cue
T1 163-182 HP_0000007 denotes autosomal recessive

testtesttest

Id Subject Object Predicate Lexical cue
T1 30-45 Modifier:D016399 denotes hemochromatosis
T2 102-117 SpecificDisease:D006432 denotes hemochromatosis
T3 119-145 SpecificDisease:D006432 denotes Hereditary hemochromatosis
T4 147-149 SpecificDisease:D006432 denotes HH
T5 163-199 DiseaseClass:D030342 denotes autosomal recessive genetic disorder
T6 292-294 SpecificDisease:D006432 denotes HH
T7 399-401 Modifier:D006432 denotes HH
T8 516-518 Modifier:D006432 denotes HH
T9 777-792 SpecificDisease:D006432 denotes hemochromatosis
T10 890-892 Modifier:D006432 denotes HH
T11 1143-1145 Modifier:D006432 denotes HH
T12 1222-1224 Modifier:D006432 denotes HH
T13 1309-1324 SpecificDisease:D006432 denotes hemochromatosis

NCBI-Disease-Train

Id Subject Object Predicate Lexical cue database_id
T15 30-45 Modifier denotes hemochromatosis D016399
T16 102-117 SpecificDisease denotes hemochromatosis D006432
T17 119-145 SpecificDisease denotes Hereditary hemochromatosis D006432
T18 147-149 SpecificDisease denotes HH D006432
T19 163-199 DiseaseClass denotes autosomal recessive genetic disorder D030342
T20 292-294 SpecificDisease denotes HH D006432
T21 399-401 Modifier denotes HH D006432
T22 516-518 Modifier denotes HH D006432
T23 777-792 SpecificDisease denotes hemochromatosis D006432
T24 890-892 Modifier denotes HH D006432
T25 1143-1145 Modifier denotes HH D006432
T26 1222-1224 Modifier denotes HH D006432
T27 1309-1324 SpecificDisease denotes hemochromatosis D006432

NCBI-Disease-Corpus-All

Id Subject Object Predicate Lexical cue database_id
T15 30-45 Modifier denotes hemochromatosis D016399
T16 102-117 SpecificDisease denotes hemochromatosis D006432
T17 119-145 SpecificDisease denotes Hereditary hemochromatosis D006432
T18 147-149 SpecificDisease denotes HH D006432
T19 163-199 DiseaseClass denotes autosomal recessive genetic disorder D030342
T20 292-294 SpecificDisease denotes HH D006432
T21 399-401 Modifier denotes HH D006432
T22 516-518 Modifier denotes HH D006432
T23 777-792 SpecificDisease denotes hemochromatosis D006432
T24 890-892 Modifier denotes HH D006432
T25 1143-1145 Modifier denotes HH D006432
T26 1222-1224 Modifier denotes HH D006432
T27 1309-1324 SpecificDisease denotes hemochromatosis D006432

NCBI-Disease-Corpus-2stage-All

Id Subject Object Predicate Lexical cue
T1 30-45 SpecificDisease denotes hemochromatosis
T2 102-117 SpecificDisease denotes hemochromatosis
T3 119-145 SpecificDisease denotes Hereditary hemochromatosis
T4 147-149 SpecificDisease denotes HH
T5 292-294 Modifier denotes HH
T6 399-401 Modifier denotes HH
T7 516-518 Modifier denotes HH
T8 777-792 SpecificDisease denotes hemochromatosis
T9 890-892 Modifier denotes HH
T10 1143-1145 Modifier denotes HH
T11 1222-1224 Modifier denotes HH
T12 1309-1324 SpecificDisease denotes hemochromatosis

NCBI-Disease-Corpus-rezarta-All

Id Subject Object Predicate Lexical cue
T1 30-45 Modifier denotes hemochromatosis
T2 102-117 Modifier denotes hemochromatosis
T3 119-145 SpecificDisease denotes Hereditary hemochromatosis
T4 147-149 SpecificDisease denotes HH
T5 292-294 Modifier denotes HH
T6 399-401 Modifier denotes HH
T7 516-518 Modifier denotes HH
T8 777-792 Modifier denotes hemochromatosis
T9 890-892 Modifier denotes HH
T10 1143-1145 Modifier denotes HH
T11 1222-1224 Modifier denotes HH
T12 1309-1324 Modifier denotes hemochromatosis

NCBI-Disease-Corpus-4oGuideline-All

Id Subject Object Predicate Lexical cue
T1 30-45 SpecificDisease denotes hemochromatosis
T2 102-117 SpecificDisease denotes hemochromatosis
T3 119-150 SpecificDisease denotes Hereditary hemochromatosis (HH)
T4 292-294 Modifier denotes HH
T5 399-401 Modifier denotes HH
T6 516-518 Modifier denotes HH
T7 777-792 SpecificDisease denotes hemochromatosis
T8 890-892 Modifier denotes HH
T9 1143-1145 Modifier denotes HH
T10 1222-1224 Modifier denotes HH
T11 1309-1324 SpecificDisease denotes hemochromatosis

NCBI-Disease-Corpus-Simple-All

Id Subject Object Predicate Lexical cue
T1 30-45 SpecificDisease denotes hemochromatosis
T2 102-117 SpecificDisease denotes hemochromatosis
T3 119-129 Modifier denotes Hereditary
T4 130-150 SpecificDisease denotes hemochromatosis (HH)
T5 292-294 SpecificDisease denotes HH
T6 399-401 SpecificDisease denotes HH
T7 471-478 SpecificDisease denotes disease
T8 516-518 SpecificDisease denotes HH
T9 777-792 SpecificDisease denotes hemochromatosis
T10 890-892 SpecificDisease denotes HH
T11 1143-1145 SpecificDisease denotes HH
T12 1222-1224 SpecificDisease denotes HH
T13 1296-1300 Modifier denotes mild
T14 1309-1324 SpecificDisease denotes hemochromatosis