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PubMed:15657603 JSONTXT

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PubTator4TogoVar

Id Subject Object Predicate Lexical cue proteinmutation
15657603_0 93-98 ProteinMutation denotes V377I rs28934897
15657603_1 720-725 ProteinMutation denotes V377I rs28934897

DisGeNET5_gene_disease

Id Subject Object Predicate Lexical cue
15657603-1#155#172#gene4598 314-331 gene4598 denotes mevalonate kinase
15657603-1#174#177#gene4598 333-336 gene4598 denotes MVK
15657603-1#253#270#gene4598 412-429 gene4598 denotes mevalonate kinase
15657603-1#272#274#gene4598 431-433 gene4598 denotes MK
15657603-1#4#57#diseaseC0398691 163-216 diseaseC0398691 denotes hyperimmunoglobulinemia D and periodic fever syndrome
15657603-1#59#63#diseaseC0398691 218-222 diseaseC0398691 denotes HIDS
15657603-1#4#57#diseaseC0398691 163-216 diseaseC0398691 denotes hyperimmunoglobulinemia D and periodic fever syndrome
15657603-2#189#197#gene7132 625-633 gene7132 denotes TNFRSF1A
15657603-2#0#41#diseaseC1275126 436-477 diseaseC1275126 denotes TNF-receptor associated periodic syndrome
15657603-2#122#145#diseaseC3889979 558-581 diseaseC3889979 denotes periodic fever syndrome
155#172#gene45984#57#diseaseC0398691 15657603-1#155#172#gene4598 15657603-1#4#57#diseaseC0398691 associated_with mevalonate kinase,hyperimmunoglobulinemia D and periodic fever syndrome
155#172#gene459859#63#diseaseC0398691 15657603-1#155#172#gene4598 15657603-1#59#63#diseaseC0398691 associated_with mevalonate kinase,HIDS
155#172#gene45984#57#diseaseC0398691 15657603-1#155#172#gene4598 15657603-1#4#57#diseaseC0398691 associated_with mevalonate kinase,hyperimmunoglobulinemia D and periodic fever syndrome
174#177#gene45984#57#diseaseC0398691 15657603-1#174#177#gene4598 15657603-1#4#57#diseaseC0398691 associated_with MVK,hyperimmunoglobulinemia D and periodic fever syndrome
174#177#gene459859#63#diseaseC0398691 15657603-1#174#177#gene4598 15657603-1#59#63#diseaseC0398691 associated_with MVK,HIDS
174#177#gene45984#57#diseaseC0398691 15657603-1#174#177#gene4598 15657603-1#4#57#diseaseC0398691 associated_with MVK,hyperimmunoglobulinemia D and periodic fever syndrome
253#270#gene45984#57#diseaseC0398691 15657603-1#253#270#gene4598 15657603-1#4#57#diseaseC0398691 associated_with mevalonate kinase,hyperimmunoglobulinemia D and periodic fever syndrome
253#270#gene459859#63#diseaseC0398691 15657603-1#253#270#gene4598 15657603-1#59#63#diseaseC0398691 associated_with mevalonate kinase,HIDS
253#270#gene45984#57#diseaseC0398691 15657603-1#253#270#gene4598 15657603-1#4#57#diseaseC0398691 associated_with mevalonate kinase,hyperimmunoglobulinemia D and periodic fever syndrome
272#274#gene45984#57#diseaseC0398691 15657603-1#272#274#gene4598 15657603-1#4#57#diseaseC0398691 associated_with MK,hyperimmunoglobulinemia D and periodic fever syndrome
272#274#gene459859#63#diseaseC0398691 15657603-1#272#274#gene4598 15657603-1#59#63#diseaseC0398691 associated_with MK,HIDS
272#274#gene45984#57#diseaseC0398691 15657603-1#272#274#gene4598 15657603-1#4#57#diseaseC0398691 associated_with MK,hyperimmunoglobulinemia D and periodic fever syndrome
189#197#gene71320#41#diseaseC1275126 15657603-2#189#197#gene7132 15657603-2#0#41#diseaseC1275126 associated_with TNFRSF1A,TNF-receptor associated periodic syndrome
189#197#gene7132122#145#diseaseC3889979 15657603-2#189#197#gene7132 15657603-2#122#145#diseaseC3889979 associated_with TNFRSF1A,periodic fever syndrome

PubCasesHPO

Id Subject Object Predicate Lexical cue
AB1 202-207 HP:0001945 denotes fever
AB2 567-572 HP:0001945 denotes fever

DisGeNET

Id Subject Object Predicate Lexical cue
T0 314-331 gene:4598 denotes mevalonate kinase
T1 163-216 disease:C0398691 denotes hyperimmunoglobulinemia D and periodic fever syndrome
T2 314-331 gene:4598 denotes mevalonate kinase
T3 218-222 disease:C0398691 denotes HIDS
T4 333-336 gene:4598 denotes MVK
T5 163-216 disease:C0398691 denotes hyperimmunoglobulinemia D and periodic fever syndrome
T6 333-336 gene:4598 denotes MVK
T7 218-222 disease:C0398691 denotes HIDS
T8 431-433 gene:4598 denotes MK
T9 218-222 disease:C0398691 denotes HIDS
T10 431-433 gene:4598 denotes MK
T11 163-216 disease:C0398691 denotes hyperimmunoglobulinemia D and periodic fever syndrome
T12 412-429 gene:4598 denotes mevalonate kinase
T13 163-216 disease:C0398691 denotes hyperimmunoglobulinemia D and periodic fever syndrome
T14 625-633 gene:7132 denotes TNFRSF1A
T15 436-477 disease:C1275126 denotes TNF-receptor associated periodic syndrome
T16 625-633 gene:7132 denotes TNFRSF1A
T17 558-572 disease:C0015974 denotes periodic fever
R1 T0 T1 associated_with mevalonate kinase,hyperimmunoglobulinemia D and periodic fever syndrome
R2 T2 T3 associated_with mevalonate kinase,HIDS
R3 T4 T5 associated_with MVK,hyperimmunoglobulinemia D and periodic fever syndrome
R4 T6 T7 associated_with MVK,HIDS
R5 T8 T9 associated_with MK,HIDS
R6 T10 T11 associated_with MK,hyperimmunoglobulinemia D and periodic fever syndrome
R7 T12 T13 associated_with mevalonate kinase,hyperimmunoglobulinemia D and periodic fever syndrome
R8 T14 T15 associated_with TNFRSF1A,TNF-receptor associated periodic syndrome
R9 T16 T17 associated_with TNFRSF1A,periodic fever