PubMed:17000021
Annnotations
PubTator4TogoVar
Id | Subject | Object | Predicate | Lexical cue | proteinmutation |
---|---|---|---|---|---|
17000021_0 | 260-265 | ProteinMutation | denotes | R620W | rs2476601 |
17000021_1 | 934-939 | ProteinMutation | denotes | R620W | rs2476601 |
17000021_2 | 1549-1572 | ProteinMutation | denotes | (W) allele at codon 620 | rs2476601 |
17000021_3 | 1751-1774 | ProteinMutation | denotes | (R) allele at codon 620 | rs2476601 |
TEST-DiseaseOrPhenotypicFeature
Id | Subject | Object | Predicate | Lexical cue | #label |
---|---|---|---|---|---|
T1 | 93-108 | DiseaseOrPhenotypicFeature | denotes | type 1 diabetes | D003922 |
T2 | 113-142 | DiseaseOrPhenotypicFeature | denotes | juvenile idiopathic arthritis | D001171 |
T3 | 333-352 | DiseaseOrPhenotypicFeature | denotes | autoimmune diseases | D001327 |
T4 | 364-379 | DiseaseOrPhenotypicFeature | denotes | type 1 diabetes | D003922 |
T5 | 381-384 | DiseaseOrPhenotypicFeature | denotes | T1D | D003922 |
T6 | 390-419 | DiseaseOrPhenotypicFeature | denotes | juvenile idiopathic arthritis | D001171 |
T7 | 421-424 | DiseaseOrPhenotypicFeature | denotes | JIA | D001171 |
T8 | 789-792 | DiseaseOrPhenotypicFeature | denotes | T1D | D003922 |
T9 | 802-805 | DiseaseOrPhenotypicFeature | denotes | JIA | D001171 |
T10 | 823-826 | DiseaseOrPhenotypicFeature | denotes | T1D | D003922 |
T11 | 1049-1052 | DiseaseOrPhenotypicFeature | denotes | T1D | D003922 |
T12 | 1072-1075 | DiseaseOrPhenotypicFeature | denotes | JIA | D001171 |
T13 | 1144-1147 | DiseaseOrPhenotypicFeature | denotes | T1D | D003922 |
T14 | 1593-1596 | DiseaseOrPhenotypicFeature | denotes | T1D | D003922 |
T15 | 1672-1675 | DiseaseOrPhenotypicFeature | denotes | JIA | D001171 |
Test-SequenceVariant
Id | Subject | Object | Predicate | Lexical cue |
---|---|---|---|---|
T1 | 251-256 | SequenceVariant | denotes | 1858C |
T2 | 260-265 | SequenceVariant | denotes | R620W |
T3 | 381-384 | SequenceVariant | denotes | T1D |
T4 | 789-792 | SequenceVariant | denotes | T1D |
T5 | 823-826 | SequenceVariant | denotes | T1D |
T6 | 900-909 | SequenceVariant | denotes | rs2488457 |
T7 | 919-928 | SequenceVariant | denotes | rs2476601 |
T8 | 934-939 | SequenceVariant | denotes | R620W |
T9 | 966-975 | SequenceVariant | denotes | rs1217412 |
T10 | 1049-1052 | SequenceVariant | denotes | T1D |
T11 | 1144-1147 | SequenceVariant | denotes | T1D |
T12 | 1593-1596 | SequenceVariant | denotes | T1D |
Test-GeneOrGeneProduct
Id | Subject | Object | Predicate | Lexical cue |
---|---|---|---|---|
T1 | 81-87 | GeneOrGeneProduct | denotes | PTPN22 |
T2 | 113-121 | GeneOrGeneProduct | denotes | juvenile |
T3 | 191-197 | GeneOrGeneProduct | denotes | PTPN22 |
T4 | 390-398 | GeneOrGeneProduct | denotes | juvenile |
T5 | 712-718 | GeneOrGeneProduct | denotes | PTPN22 |
T6 | 1655-1658 | GeneOrGeneProduct | denotes | 651 |
T7 | 2099-2105 | GeneOrGeneProduct | denotes | PTPN22 |
Test-merged-2
Id | Subject | Object | Predicate | Lexical cue | #label |
---|---|---|---|---|---|
T24388 | 251-256 | SequenceVariant | denotes | 1858C | |
T283 | 260-265 | SequenceVariant | denotes | R620W | |
T39204 | 381-384 | SequenceVariant | denotes | T1D | |
T12775 | 789-792 | SequenceVariant | denotes | T1D | |
T1630 | 823-826 | SequenceVariant | denotes | T1D | |
T28162 | 900-909 | SequenceVariant | denotes | rs2488457 | |
T70152 | 919-928 | SequenceVariant | denotes | rs2476601 | |
T71319 | 934-939 | SequenceVariant | denotes | R620W | |
T54624 | 966-975 | SequenceVariant | denotes | rs1217412 | |
T74869 | 1049-1052 | SequenceVariant | denotes | T1D | |
T15155 | 1144-1147 | SequenceVariant | denotes | T1D | |
T26704 | 1593-1596 | SequenceVariant | denotes | T1D | |
T25130 | 81-87 | GeneOrGeneProduct | denotes | PTPN22 | |
T25881 | 113-121 | GeneOrGeneProduct | denotes | juvenile | |
T14098 | 191-197 | GeneOrGeneProduct | denotes | PTPN22 | |
T67706 | 390-398 | GeneOrGeneProduct | denotes | juvenile | |
T97672 | 712-718 | GeneOrGeneProduct | denotes | PTPN22 | |
T67161 | 1655-1658 | GeneOrGeneProduct | denotes | 651 | |
T10241 | 2099-2105 | GeneOrGeneProduct | denotes | PTPN22 | |
T1 | 93-108 | DiseaseOrPhenotypicFeature | denotes | type 1 diabetes | D003922 |
T2 | 113-142 | DiseaseOrPhenotypicFeature | denotes | juvenile idiopathic arthritis | D001171 |
T3 | 333-352 | DiseaseOrPhenotypicFeature | denotes | autoimmune diseases | D001327 |
T4 | 364-379 | DiseaseOrPhenotypicFeature | denotes | type 1 diabetes | D003922 |
T5 | 381-384 | DiseaseOrPhenotypicFeature | denotes | T1D | D003922 |
T6 | 390-419 | DiseaseOrPhenotypicFeature | denotes | juvenile idiopathic arthritis | D001171 |
T7 | 421-424 | DiseaseOrPhenotypicFeature | denotes | JIA | D001171 |
T8 | 789-792 | DiseaseOrPhenotypicFeature | denotes | T1D | D003922 |
T9 | 802-805 | DiseaseOrPhenotypicFeature | denotes | JIA | D001171 |
T10 | 823-826 | DiseaseOrPhenotypicFeature | denotes | T1D | D003922 |
T11 | 1049-1052 | DiseaseOrPhenotypicFeature | denotes | T1D | D003922 |
T12 | 1072-1075 | DiseaseOrPhenotypicFeature | denotes | JIA | D001171 |
T13 | 1144-1147 | DiseaseOrPhenotypicFeature | denotes | T1D | D003922 |
T14 | 1593-1596 | DiseaseOrPhenotypicFeature | denotes | T1D | D003922 |
T15 | 1672-1675 | DiseaseOrPhenotypicFeature | denotes | JIA | D001171 |
Test-merged
Id | Subject | Object | Predicate | Lexical cue | #label |
---|---|---|---|---|---|
T15 | 1672-1675 | DiseaseOrPhenotypicFeature | denotes | JIA | D001171 |
T14 | 1593-1596 | DiseaseOrPhenotypicFeature | denotes | T1D | D003922 |
T13 | 1144-1147 | DiseaseOrPhenotypicFeature | denotes | T1D | D003922 |
T12 | 1072-1075 | DiseaseOrPhenotypicFeature | denotes | JIA | D001171 |
T11 | 1049-1052 | DiseaseOrPhenotypicFeature | denotes | T1D | D003922 |
T10 | 823-826 | DiseaseOrPhenotypicFeature | denotes | T1D | D003922 |
T9 | 802-805 | DiseaseOrPhenotypicFeature | denotes | JIA | D001171 |
T8 | 789-792 | DiseaseOrPhenotypicFeature | denotes | T1D | D003922 |
T7 | 421-424 | DiseaseOrPhenotypicFeature | denotes | JIA | D001171 |
T6 | 390-419 | DiseaseOrPhenotypicFeature | denotes | juvenile idiopathic arthritis | D001171 |
T5 | 381-384 | DiseaseOrPhenotypicFeature | denotes | T1D | D003922 |
T4 | 364-379 | DiseaseOrPhenotypicFeature | denotes | type 1 diabetes | D003922 |
T3 | 333-352 | DiseaseOrPhenotypicFeature | denotes | autoimmune diseases | D001327 |
T2 | 113-142 | DiseaseOrPhenotypicFeature | denotes | juvenile idiopathic arthritis | D001171 |
T1 | 93-108 | DiseaseOrPhenotypicFeature | denotes | type 1 diabetes | D003922 |
T10241 | 2099-2105 | GeneOrGeneProduct | denotes | PTPN22 | |
T67161 | 1655-1658 | GeneOrGeneProduct | denotes | 651 | |
T97672 | 712-718 | GeneOrGeneProduct | denotes | PTPN22 | |
T14098 | 191-197 | GeneOrGeneProduct | denotes | PTPN22 | |
T25130 | 81-87 | GeneOrGeneProduct | denotes | PTPN22 | |
T54624 | 966-975 | SequenceVariant | denotes | rs1217412 | |
T71319 | 934-939 | SequenceVariant | denotes | R620W | |
T70152 | 919-928 | SequenceVariant | denotes | rs2476601 | |
T28162 | 900-909 | SequenceVariant | denotes | rs2488457 | |
T283 | 260-265 | SequenceVariant | denotes | R620W | |
T24388 | 251-256 | SequenceVariant | denotes | 1858C |
DisGeNET
Id | Subject | Object | Predicate | Lexical cue |
---|---|---|---|---|
T0 | 712-718 | gene:26191 | denotes | PTPN22 |
T1 | 789-792 | disease:C0011854 | denotes | T1D |
T2 | 712-718 | gene:26191 | denotes | PTPN22 |
T3 | 802-805 | disease:C3714757 | denotes | JIA |
T4 | 712-718 | gene:26191 | denotes | PTPN22 |
T5 | 802-805 | disease:C3495559 | denotes | JIA |
T6 | 712-718 | gene:26191 | denotes | PTPN22 |
T7 | 823-826 | disease:C0011854 | denotes | T1D |
R1 | T0 | T1 | associated_with | PTPN22,T1D |
R2 | T2 | T3 | associated_with | PTPN22,JIA |
R3 | T4 | T5 | associated_with | PTPN22,JIA |
R4 | T6 | T7 | associated_with | PTPN22,T1D |
PubmedHPO
Id | Subject | Object | Predicate | Lexical cue |
---|---|---|---|---|
T1 | 333-352 | HP_0002960 | denotes | autoimmune diseases |
T2 | 333-343 | HP_0002960 | denotes | autoimmune |
T3 | 410-419 | HP_0001369 | denotes | arthritis |
DisGeNET5_variant_disease
Id | Subject | Object | Predicate | Lexical cue |
---|---|---|---|---|
17000021-2#14#19#geners2476601 | 260-265 | geners2476601 | denotes | R620W |
17000021-2#87#106#diseaseC0004364 | 333-352 | diseaseC0004364 | denotes | autoimmune diseases |
17000021-2#144#173#diseaseC3495559 | 390-419 | diseaseC3495559 | denotes | juvenile idiopathic arthritis |
17000021-2#175#178#diseaseC3495559 | 421-424 | diseaseC3495559 | denotes | JIA |
17000021-5#96#101#geners2476601 | 934-939 | geners2476601 | denotes | R620W |
17000021-5#62#71#geners2488457 | 900-909 | geners2488457 | denotes | rs2488457 |
17000021-5#128#137#geners1217412 | 966-975 | geners1217412 | denotes | rs1217412 |
17000021-5#81#90#geners2476601 | 919-928 | geners2476601 | denotes | rs2476601 |
17000021-5#211#214#diseaseC0011854 | 1049-1052 | diseaseC0011854 | denotes | T1D |
17000021-5#306#309#diseaseC0011854 | 1144-1147 | diseaseC0011854 | denotes | T1D |
17000021-5#211#214#diseaseC0011854 | 1049-1052 | diseaseC0011854 | denotes | T1D |
14#19#geners247660187#106#diseaseC0004364 | 17000021-2#14#19#geners2476601 | 17000021-2#87#106#diseaseC0004364 | associated_with | R620W,autoimmune diseases |
14#19#geners2476601144#173#diseaseC3495559 | 17000021-2#14#19#geners2476601 | 17000021-2#144#173#diseaseC3495559 | associated_with | R620W,juvenile idiopathic arthritis |
14#19#geners2476601175#178#diseaseC3495559 | 17000021-2#14#19#geners2476601 | 17000021-2#175#178#diseaseC3495559 | associated_with | R620W,JIA |
96#101#geners2476601211#214#diseaseC0011854 | 17000021-5#96#101#geners2476601 | 17000021-5#211#214#diseaseC0011854 | associated_with | R620W,T1D |
96#101#geners2476601306#309#diseaseC0011854 | 17000021-5#96#101#geners2476601 | 17000021-5#306#309#diseaseC0011854 | associated_with | R620W,T1D |
96#101#geners2476601211#214#diseaseC0011854 | 17000021-5#96#101#geners2476601 | 17000021-5#211#214#diseaseC0011854 | associated_with | R620W,T1D |
62#71#geners2488457211#214#diseaseC0011854 | 17000021-5#62#71#geners2488457 | 17000021-5#211#214#diseaseC0011854 | associated_with | rs2488457,T1D |
62#71#geners2488457306#309#diseaseC0011854 | 17000021-5#62#71#geners2488457 | 17000021-5#306#309#diseaseC0011854 | associated_with | rs2488457,T1D |
62#71#geners2488457211#214#diseaseC0011854 | 17000021-5#62#71#geners2488457 | 17000021-5#211#214#diseaseC0011854 | associated_with | rs2488457,T1D |
128#137#geners1217412211#214#diseaseC0011854 | 17000021-5#128#137#geners1217412 | 17000021-5#211#214#diseaseC0011854 | associated_with | rs1217412,T1D |
128#137#geners1217412306#309#diseaseC0011854 | 17000021-5#128#137#geners1217412 | 17000021-5#306#309#diseaseC0011854 | associated_with | rs1217412,T1D |
128#137#geners1217412211#214#diseaseC0011854 | 17000021-5#128#137#geners1217412 | 17000021-5#211#214#diseaseC0011854 | associated_with | rs1217412,T1D |
81#90#geners2476601211#214#diseaseC0011854 | 17000021-5#81#90#geners2476601 | 17000021-5#211#214#diseaseC0011854 | associated_with | rs2476601,T1D |
81#90#geners2476601306#309#diseaseC0011854 | 17000021-5#81#90#geners2476601 | 17000021-5#306#309#diseaseC0011854 | associated_with | rs2476601,T1D |
81#90#geners2476601211#214#diseaseC0011854 | 17000021-5#81#90#geners2476601 | 17000021-5#211#214#diseaseC0011854 | associated_with | rs2476601,T1D |
DisGeNET5_gene_disease
Id | Subject | Object | Predicate | Lexical cue |
---|---|---|---|---|
17000021-0#81#87#gene26191 | 81-87 | gene26191 | denotes | PTPN22 |
17000021-0#81#87#gene26191 | 81-87 | gene26191 | denotes | PTPN22 |
17000021-0#113#142#diseaseC3495559 | 113-142 | diseaseC3495559 | denotes | juvenile idiopathic arthritis |
17000021-0#113#142#diseaseC3714757 | 113-142 | diseaseC3714757 | denotes | juvenile idiopathic arthritis |
17000021-0#93#108#diseaseC0011854 | 93-108 | diseaseC0011854 | denotes | type 1 diabetes |
17000021-9#197#203#gene26191 | 2099-2105 | gene26191 | denotes | PTPN22 |
17000021-9#241#253#diseaseC0004364 | 2143-2155 | diseaseC0004364 | denotes | autoimmunity |
81#87#gene26191113#142#diseaseC3495559 | 17000021-0#81#87#gene26191 | 17000021-0#113#142#diseaseC3495559 | associated_with | PTPN22,juvenile idiopathic arthritis |
81#87#gene26191113#142#diseaseC3714757 | 17000021-0#81#87#gene26191 | 17000021-0#113#142#diseaseC3714757 | associated_with | PTPN22,juvenile idiopathic arthritis |
81#87#gene2619193#108#diseaseC0011854 | 17000021-0#81#87#gene26191 | 17000021-0#93#108#diseaseC0011854 | associated_with | PTPN22,type 1 diabetes |
81#87#gene26191113#142#diseaseC3495559 | 17000021-0#81#87#gene26191 | 17000021-0#113#142#diseaseC3495559 | associated_with | PTPN22,juvenile idiopathic arthritis |
81#87#gene26191113#142#diseaseC3714757 | 17000021-0#81#87#gene26191 | 17000021-0#113#142#diseaseC3714757 | associated_with | PTPN22,juvenile idiopathic arthritis |
81#87#gene2619193#108#diseaseC0011854 | 17000021-0#81#87#gene26191 | 17000021-0#93#108#diseaseC0011854 | associated_with | PTPN22,type 1 diabetes |
197#203#gene26191241#253#diseaseC0004364 | 17000021-9#197#203#gene26191 | 17000021-9#241#253#diseaseC0004364 | associated_with | PTPN22,autoimmunity |
tmVarCorpus
Id | Subject | Object | Predicate | Lexical cue |
---|---|---|---|---|
T1 | 27-36 | DNAMutation:c|SUB|G|-1123|C | denotes | -1123 G>C |
T2 | 40-49 | DNAMutation:c|SUB|A|+2740|G | denotes | +2740 A>G |
T3 | 250-258 | DNAMutation:c|SUB|C|+1858|T | denotes | +1858C>T |
T4 | 260-265 | ProteinMutation:p|SUB|R|620|W | denotes | R620W |
T5 | 900-909 | SNP:rs2488457 | denotes | rs2488457 |
T6 | 919-928 | SNP:rs2476601 | denotes | rs2476601 |
T7 | 934-939 | ProteinMutation:p|SUB|R|620|W | denotes | R620W |
T8 | 966-975 | SNP:rs1217412 | denotes | rs1217412 |