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PubMed:8956035 JSONTXT

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DisGeNET

Id Subject Object Predicate Lexical cue
T0 753-757 gene:8266 denotes G6PD
T1 784-801 disease:C0149676 denotes enzyme deficiency
T2 753-757 gene:2539 denotes G6PD
T3 784-801 disease:C0149676 denotes enzyme deficiency
T4 845-849 gene:8266 denotes G6PD
T5 784-801 disease:C0149676 denotes enzyme deficiency
T6 845-849 gene:2539 denotes G6PD
T7 784-801 disease:C0149676 denotes enzyme deficiency
T8 861-865 gene:8266 denotes G6PD
T9 784-801 disease:C0149676 denotes enzyme deficiency
T10 861-865 gene:2539 denotes G6PD
T11 784-801 disease:C0149676 denotes enzyme deficiency
R1 T0 T1 associated_with G6PD,enzyme deficiency
R2 T2 T3 associated_with G6PD,enzyme deficiency
R3 T4 T5 associated_with G6PD,enzyme deficiency
R4 T6 T7 associated_with G6PD,enzyme deficiency
R5 T8 T9 associated_with G6PD,enzyme deficiency
R6 T10 T11 associated_with G6PD,enzyme deficiency

DisGeNET5_variant_disease

Id Subject Object Predicate Lexical cue
8956035-3#195#208#geners5030872 600-613 geners5030872 denotes 181 Asp-->Val
8956035-3#66#72#diseaseC0015702 471-477 diseaseC0015702 denotes favism
195#208#geners503087266#72#diseaseC0015702 8956035-3#195#208#geners5030872 8956035-3#66#72#diseaseC0015702 associated_with 181 Asp-->Val,favism

DisGeNET5_gene_disease

Id Subject Object Predicate Lexical cue
8956035-3#14#18#gene2539 419-423 gene2539 denotes G6PD
8956035-3#66#72#diseaseC0015702 471-477 diseaseC0015702 denotes favism
14#18#gene253966#72#diseaseC0015702 8956035-3#14#18#gene2539 8956035-3#66#72#diseaseC0015702 associated_with G6PD,favism

NCBIDiseaseCorpus

Id Subject Object Predicate Lexical cue
T1 419-433 Modifier:D005955 denotes G6PD deficient
T2 471-477 SpecificDisease:D005236 denotes favism
T3 784-801 DiseaseClass:D008661 denotes enzyme deficiency

ncbi-valid

Id Subject Object Predicate Lexical cue
T1 419-433 Modifier denotes G6PD deficient
T2 471-477 SpecificDisease denotes favism
T3 784-801 DiseaseClass denotes enzyme deficiency

ncbi-valid-gpt-nr-g

Id Subject Object Predicate Lexical cue
T1 419-433 Modifier denotes G6PD deficient
T2 471-477 SpecificDisease denotes favism

ncbi-valid-gpt-r-ng

Id Subject Object Predicate Lexical cue
T1 419-442 SpecificDisease denotes G6PD deficient patients
T2 471-477 SpecificDisease denotes favism
T3 784-801 DiseaseClass denotes enzyme deficiency
T4 803-812 Modifier denotes class III

ncbi-valid-gpt-nr-ng

Id Subject Object Predicate Lexical cue
T1 419-442 SpecificDisease denotes G6PD deficient patients
T2 462-477 SpecificDisease denotes clinical favism
T3 784-801 DiseaseClass denotes enzyme deficiency
T4 803-812 Modifier denotes class III

ncbi-valid-gpt-r-g

Id Subject Object Predicate Lexical cue
T1 419-433 Modifier denotes G6PD deficient
T2 471-477 SpecificDisease denotes favism

ncbi-valid-gemini-r-g

Id Subject Object Predicate Lexical cue
T1 419-433 Modifier denotes G6PD deficient
T2 471-477 SpecificDisease denotes favism
T3 548-559 SpecificDisease denotes G6PD Malaga
T4 736-751 SpecificDisease denotes G6PD Santamaria
T5 753-764 SpecificDisease denotes G6PD Malaga
T6 784-801 DiseaseClass denotes enzyme deficiency
T7 845-856 SpecificDisease denotes G6PD Malaga
T8 996-1011 SpecificDisease denotes G6PD Santamaria

ncbi-valid-gemini-nr-ng

Id Subject Object Predicate Lexical cue
T1 57-101 SpecificDisease denotes human glucose 6-phosphate dehydrogenase gene
T2 154-167 SpecificDisease denotes G6PD variants
T3 397-403 SpecificDisease denotes G6PD A
T4 419-433 Modifier denotes G6PD deficient
T5 462-477 SpecificDisease denotes clinical favism
T6 548-559 SpecificDisease denotes G6PD Malaga
T7 707-713 SpecificDisease denotes G6PD A
T8 736-751 SpecificDisease denotes G6PD Santamaria
T9 753-764 SpecificDisease denotes G6PD Malaga
T10 784-801 SpecificDisease denotes enzyme deficiency
T11 845-856 SpecificDisease denotes G6PD Malaga
T12 861-876 SpecificDisease denotes G6PD Santamaria
T13 996-1011 SpecificDisease denotes G6PD Santamaria
T14 1062-1068 SpecificDisease denotes G6PD A
T15 1073-1084 SpecificDisease denotes G6PD Malaga
T16 1239-1245 SpecificDisease denotes G6PD B
T17 1405-1415 SpecificDisease denotes G6PD locus

ncbi-valid-gemini-nr-g

Id Subject Object Predicate Lexical cue
T1 462-477 SpecificDisease denotes clinical favism
T2 784-801 DiseaseClass denotes enzyme deficiency

ncbi-valid-deepseek-nr-ng

Id Subject Object Predicate Lexical cue
T1 0-11 Modifier denotes Independent
T2 12-18 Modifier denotes origin
T3 22-28 Modifier denotes single
T4 33-39 Modifier denotes double
T5 40-49 Modifier denotes mutations
T6 57-62 Modifier denotes human
T7 63-70 Modifier denotes glucose
T8 71-82 Modifier denotes 6-phosphate
T9 83-96 Modifier denotes dehydrogenase
T10 97-101 Modifier denotes gene
T11 103-106 Modifier denotes The
T12 107-111 Modifier denotes vast
T13 112-120 Modifier denotes majority
T14 129-140 Modifier denotes polymorphic
T15 145-153 Modifier denotes sporadic
T16 154-158 SpecificDisease denotes G6PD
T17 159-167 Modifier denotes variants
T18 172-175 Modifier denotes due
T19 179-185 Modifier denotes single
T20 186-194 Modifier denotes missense
T21 195-204 Modifier denotes mutations
T22 209-212 Modifier denotes the
T23 213-217 Modifier denotes four
T24 218-229 Modifier denotes polymorphic
T25 249-252 Modifier denotes two
T26 253-258 Modifier denotes point
T27 259-268 Modifier denotes mutations
T28 270-273 Modifier denotes one
T29 294-300 Modifier denotes always
T30 301-304 Modifier denotes 376
T31 305-306 Modifier denotes A
T32 309-310 Modifier denotes G
T33 312-315 Modifier denotes 126
T34 316-319 Modifier denotes Asn
T35 322-325 Modifier denotes Asp
T36 328-333 Modifier denotes which
T37 337-340 Modifier denotes its
T38 341-344 Modifier denotes own
T39 345-350 Modifier denotes gives
T40 351-355 Modifier denotes rise
T41 359-362 Modifier denotes the
T42 363-375 Modifier denotes nondeficient
T43 376-387 Modifier denotes polymorphic
T44 388-395 Modifier denotes variant
T45 397-401 SpecificDisease denotes G6PD
T46 405-407 Modifier denotes In
T47 410-415 Modifier denotes study
T48 434-442 Modifier denotes patients
T49 447-456 Modifier denotes presented
T50 462-470 Modifier denotes clinical
T51 471-477 SpecificDisease denotes favism
T52 481-1416 CompositeMention denotes Spain, we have found a new polymorphic variant that we have called G6PD Malaga, whose only abnormality is a 542 A-->T (181 Asp-->Val) mutation. This is the same mutation as previously found in association with the mutation of G6PD A in the double mutant, G6PD Santamaria. G6PD Malaga is associated with enzyme deficiency (class III), and the enzymic properties of G6PD Malaga and G6PD Santamaria are quite similar, indicating that in this case the effects of the two mutations are additive rather than synergistic. G6PD Santamaria might have been produced by recombination between G6PD A and G6PD Malaga; however haplotype analysis, including the use of a new silent polymorphism, suggests that the same 542 A-->T mutation has taken place independently in a G6PD B gene to give G6PD Malaga and in a G6PD A gene to give G6PD Santamaria. These findings help to outline the relationship and evolution of mutations in the human G6PD locus.

ncbi-valid-deepseek-r-ng

Id Subject Object Predicate Lexical cue
T1 63-101 CompositeMention denotes glucose 6-phosphate dehydrogenase gene
T2 129-140 Modifier denotes polymorphic
T3 145-153 Modifier denotes sporadic
T4 154-167 CompositeMention denotes G6PD variants
T5 301-310 CompositeMention denotes 376 A-->G
T6 363-375 Modifier denotes nondeficient
T7 397-403 CompositeMention denotes G6PD A
T8 471-477 SpecificDisease denotes favism
T9 548-559 CompositeMention denotes G6PD Malaga
T10 589-598 CompositeMention denotes 542 A-->T
T11 736-751 CompositeMention denotes G6PD Santamaria
T12 803-812 DiseaseClass denotes class III
T13 962-970 Modifier denotes additive
T14 983-994 Modifier denotes synergistic
T15 1239-1250 CompositeMention denotes G6PD B gene

ncbi-valid-deepseek-r-g

Id Subject Object Predicate Lexical cue
T1 154-167 DiseaseClass denotes G6PD variants
T2 397-403 SpecificDisease denotes G6PD A
T3 419-433 SpecificDisease denotes G6PD deficient
T4 462-477 SpecificDisease denotes clinical favism
T5 548-559 SpecificDisease denotes G6PD Malaga
T6 707-713 SpecificDisease denotes G6PD A
T7 736-751 SpecificDisease denotes G6PD Santamaria
T8 784-813 DiseaseClass denotes enzyme deficiency (class III)

ncbi-valid-gemini-r-ng

Id Subject Object Predicate Lexical cue
T1 154-167 DiseaseClass denotes G6PD variants
T2 179-204 Modifier denotes single missense mutations
T3 253-268 Modifier denotes point mutations
T4 301-326 Modifier denotes 376 A-->G (126 Asn-->Asp)
T5 363-375 Modifier denotes nondeficient
T6 376-395 Modifier denotes polymorphic variant
T7 397-403 SpecificDisease denotes G6PD A
T8 419-433 Modifier denotes G6PD deficient
T9 462-477 SpecificDisease denotes clinical favism
T10 548-559 SpecificDisease denotes G6PD Malaga
T11 589-623 Modifier denotes 542 A-->T (181 Asp-->Val) mutation
T12 707-713 SpecificDisease denotes G6PD A
T13 721-734 Modifier denotes double mutant
T14 736-751 SpecificDisease denotes G6PD Santamaria
T15 753-764 SpecificDisease denotes G6PD Malaga
T16 784-801 DiseaseClass denotes enzyme deficiency
T17 803-812 Modifier denotes class III
T18 845-856 SpecificDisease denotes G6PD Malaga
T19 861-876 SpecificDisease denotes G6PD Santamaria
T20 996-1011 SpecificDisease denotes G6PD Santamaria
T21 1062-1068 SpecificDisease denotes G6PD A
T22 1073-1084 SpecificDisease denotes G6PD Malaga
T23 1185-1203 Modifier denotes 542 A-->T mutation
T24 1382-1391 Modifier denotes mutations

ncbi-valid-gemini-r-m

Id Subject Object Predicate Lexical cue
T1 419-433 Modifier denotes G6PD deficient
T2 471-477 SpecificDisease denotes favism
T3 784-801 DiseaseClass denotes enzyme deficiency

ncbi-valid-gpt-r-m

Id Subject Object Predicate Lexical cue
T1 419-433 Modifier denotes G6PD deficient
T2 471-477 SpecificDisease denotes favism

ncbi-valid-deepseek-r-m

Id Subject Object Predicate Lexical cue
T1 419-433 Modifier denotes G6PD deficient
T2 462-477 SpecificDisease denotes clinical favism

NCBI-Disease-Develop

Id Subject Object Predicate Lexical cue database_id
T608 419-433 Modifier denotes G6PD deficient D005955
T609 471-477 SpecificDisease denotes favism D005236
T610 784-801 DiseaseClass denotes enzyme deficiency D008661

NCBI-Disease-Corpus-All

Id Subject Object Predicate Lexical cue database_id
T608 419-433 Modifier denotes G6PD deficient D005955
T609 471-477 SpecificDisease denotes favism D005236
T610 784-801 DiseaseClass denotes enzyme deficiency D008661

NCBI-Disease-Corpus-2stage-All

Id Subject Object Predicate Lexical cue
T1 154-167 SpecificDisease denotes G6PD variants
T2 230-238 DiseaseClass denotes variants
T3 397-403 SpecificDisease denotes G6PD A
T4 419-433 Modifier denotes G6PD deficient
T5 471-477 SpecificDisease denotes favism
T6 548-559 SpecificDisease denotes G6PD Malaga
T7 707-713 SpecificDisease denotes G6PD A
T8 736-751 SpecificDisease denotes G6PD Santamaria
T9 753-764 SpecificDisease denotes G6PD Malaga
T10 845-856 SpecificDisease denotes G6PD Malaga
T11 861-876 SpecificDisease denotes G6PD Santamaria
T12 996-1011 SpecificDisease denotes G6PD Santamaria
T13 1062-1068 SpecificDisease denotes G6PD A
T14 1073-1084 SpecificDisease denotes G6PD Malaga
T15 1239-1250 Modifier denotes G6PD B gene
T16 1259-1270 SpecificDisease denotes G6PD Malaga
T17 1280-1291 Modifier denotes G6PD A gene
T18 1300-1315 SpecificDisease denotes G6PD Santamaria
T19 1405-1415 Modifier denotes G6PD locus

NCBI-Disease-Corpus-rezarta-All

Id Subject Object Predicate Lexical cue
T1 154-167 Modifier denotes G6PD variants
T2 397-403 SpecificDisease denotes G6PD A
T3 419-433 Modifier denotes G6PD deficient
T4 471-477 SpecificDisease denotes favism
T5 548-559 SpecificDisease denotes G6PD Malaga
T6 707-713 SpecificDisease denotes G6PD A
T7 736-751 SpecificDisease denotes G6PD Santamaria
T8 753-764 SpecificDisease denotes G6PD Malaga
T9 845-856 SpecificDisease denotes G6PD Malaga
T10 861-876 SpecificDisease denotes G6PD Santamaria
T11 996-1011 SpecificDisease denotes G6PD Santamaria
T12 1062-1068 SpecificDisease denotes G6PD A
T13 1073-1084 SpecificDisease denotes G6PD Malaga
T14 1239-1245 Modifier denotes G6PD B
T15 1259-1270 SpecificDisease denotes G6PD Malaga
T16 1280-1286 SpecificDisease denotes G6PD A
T17 1300-1315 SpecificDisease denotes G6PD Santamaria
T18 1405-1415 Modifier denotes G6PD locus

NCBI-Disease-Corpus-4oGuideline-All

Id Subject Object Predicate Lexical cue
T1 419-433 SpecificDisease denotes G6PD deficient
T2 471-477 SpecificDisease denotes favism
T3 784-813 SpecificDisease denotes enzyme deficiency (class III)

NCBI-Disease-Corpus-Simple-All

Id Subject Object Predicate Lexical cue
T1 154-167 SpecificDisease denotes G6PD variants
T2 397-403 SpecificDisease denotes G6PD A
T3 419-442 SpecificDisease denotes G6PD deficient patients
T4 471-477 SpecificDisease denotes favism
T5 548-559 SpecificDisease denotes G6PD Malaga
T6 707-713 SpecificDisease denotes G6PD A
T7 736-751 SpecificDisease denotes G6PD Santamaria
T8 753-764 SpecificDisease denotes G6PD Malaga
T9 784-813 Modifier denotes enzyme deficiency (class III)
T10 845-856 SpecificDisease denotes G6PD Malaga
T11 861-876 SpecificDisease denotes G6PD Santamaria
T12 996-1011 SpecificDisease denotes G6PD Santamaria
T13 1062-1068 SpecificDisease denotes G6PD A
T14 1073-1084 SpecificDisease denotes G6PD Malaga
T15 1239-1250 SpecificDisease denotes G6PD B gene
T16 1259-1270 SpecificDisease denotes G6PD Malaga
T17 1280-1291 SpecificDisease denotes G6PD A gene
T18 1300-1315 SpecificDisease denotes G6PD Santamaria
T19 1405-1415 SpecificDisease denotes G6PD locus