
PubMed:10194428
Annnotations
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 |