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sentences

Id Subject Object Predicate Lexical cue
TextSentencer_T1 0-91 Sentence denotes Phenotypic and genotypic overlap between atelosteogenesis type 2 and diastrophic dysplasia.
TextSentencer_T2 92-363 Sentence denotes Mutations in the diastrophic dysplasia sulfate transporter gene DTDST have been associated with a family of chondrodysplasias that comprises, in order of increasing severity, diastrophic dysplasia (DTD), atelosteogenesis type 2 (AO2), and achondrogenesis type 1B (ACG1B).
TextSentencer_T3 364-606 Sentence denotes To learn more about the molecular basis of DTDST chondrodysplasias and about genotype-phenotype correlations, we studied fibroblast cultures of three new patients: one with AO-2, one with DTD, and one with an intermediate phenotype (AO2/DTD).
TextSentencer_T4 607-693 Sentence denotes Reduced incorporation of inorganic sulfate into macromolecules was found in all three.
TextSentencer_T5 694-846 Sentence denotes Each of the three patients was found to be heterozygous for a c862t transition predicting a R279W substitution in the third extracellular loop of DTDST.
TextSentencer_T6 847-1256 Sentence denotes In two patients (DTD and AO2/DTD), no other structural mutation was found, but polymerase chain reaction amplification and single-strand conformation polymorphism analysis of fibroblast cDNA showed reduced mRNA levels of the wild-type DTDST allele: these two patients may be compound heterozygotes for the "Finnish" mutation (as yet uncharacterized at the DNA level), which causes reduced expression of DTDST.
TextSentencer_T7 1257-1437 Sentence denotes The third patient (with AO2) had the R279W mutation compounded with a novel mutation, the deletion of cytosine 418 (delta c418), predicting a frameshift with premature termination.
TextSentencer_T8 1438-1586 Sentence denotes Also the delta c418 allele was underrepresented in the cDNA, in accordance with previous observations that premature stop codons reduce mRNA levels.
TextSentencer_T9 1587-1718 Sentence denotes The presence of the DTDST R279W mutation in a total of 11 patients with AO2 or DTD emphasizes the overlap between these conditions.
TextSentencer_T10 1719-1865 Sentence denotes This mutation has not been found so far in 8 analyzed ACG1B patients, suggesting that it allows some residual activity of the sulfate transporter.
T1 0-91 Sentence denotes Phenotypic and genotypic overlap between atelosteogenesis type 2 and diastrophic dysplasia.
T2 92-363 Sentence denotes Mutations in the diastrophic dysplasia sulfate transporter gene DTDST have been associated with a family of chondrodysplasias that comprises, in order of increasing severity, diastrophic dysplasia (DTD), atelosteogenesis type 2 (AO2), and achondrogenesis type 1B (ACG1B).
T3 364-606 Sentence denotes To learn more about the molecular basis of DTDST chondrodysplasias and about genotype-phenotype correlations, we studied fibroblast cultures of three new patients: one with AO-2, one with DTD, and one with an intermediate phenotype (AO2/DTD).
T4 607-693 Sentence denotes Reduced incorporation of inorganic sulfate into macromolecules was found in all three.
T5 694-846 Sentence denotes Each of the three patients was found to be heterozygous for a c862t transition predicting a R279W substitution in the third extracellular loop of DTDST.
T6 847-1256 Sentence denotes In two patients (DTD and AO2/DTD), no other structural mutation was found, but polymerase chain reaction amplification and single-strand conformation polymorphism analysis of fibroblast cDNA showed reduced mRNA levels of the wild-type DTDST allele: these two patients may be compound heterozygotes for the "Finnish" mutation (as yet uncharacterized at the DNA level), which causes reduced expression of DTDST.
T7 1257-1437 Sentence denotes The third patient (with AO2) had the R279W mutation compounded with a novel mutation, the deletion of cytosine 418 (delta c418), predicting a frameshift with premature termination.
T8 1438-1586 Sentence denotes Also the delta c418 allele was underrepresented in the cDNA, in accordance with previous observations that premature stop codons reduce mRNA levels.
T9 1587-1718 Sentence denotes The presence of the DTDST R279W mutation in a total of 11 patients with AO2 or DTD emphasizes the overlap between these conditions.
T10 1719-1865 Sentence denotes This mutation has not been found so far in 8 analyzed ACG1B patients, suggesting that it allows some residual activity of the sulfate transporter.

DisGeNET

Id Subject Object Predicate Lexical cue
T0 131-150 gene:1836 denotes sulfate transporter
T1 109-130 disease:C0220726 denotes diastrophic dysplasia
T2 131-150 gene:1836 denotes sulfate transporter
T3 200-217 disease:C0343284 denotes chondrodysplasias
T4 131-150 gene:1836 denotes sulfate transporter
T5 290-293 disease:C0220726 denotes DTD
T6 131-150 gene:1836 denotes sulfate transporter
T7 296-319 disease:C1850554 denotes atelosteogenesis type 2
T8 131-150 gene:1836 denotes sulfate transporter
T9 356-361 disease:C0265274 denotes ACG1B
T10 131-150 gene:1836 denotes sulfate transporter
T11 331-354 disease:C0265274 denotes achondrogenesis type 1B
T12 131-150 gene:1836 denotes sulfate transporter
T13 321-324 disease:C1850554 denotes AO2
T14 407-412 gene:1836 denotes DTDST
T15 413-430 disease:C0343284 denotes chondrodysplasias
R1 T0 T1 associated_with sulfate transporter,diastrophic dysplasia
R2 T2 T3 associated_with sulfate transporter,chondrodysplasias
R3 T4 T5 associated_with sulfate transporter,DTD
R4 T6 T7 associated_with sulfate transporter,atelosteogenesis type 2
R5 T8 T9 associated_with sulfate transporter,ACG1B
R6 T10 T11 associated_with sulfate transporter,achondrogenesis type 1B
R7 T12 T13 associated_with sulfate transporter,AO2
R8 T14 T15 associated_with DTDST,chondrodysplasias

DisGeNET5_variant_disease

Id Subject Object Predicate Lexical cue
8931695-8#26#31#geners104893915 1613-1618 geners104893915 denotes R279W
8931695-8#72#75#diseaseC1850554 1659-1662 diseaseC1850554 denotes AO2
8931695-8#79#82#diseaseC0220726 1666-1669 diseaseC0220726 denotes DTD
26#31#geners10489391572#75#diseaseC1850554 8931695-8#26#31#geners104893915 8931695-8#72#75#diseaseC1850554 associated_with R279W,AO2
26#31#geners10489391579#82#diseaseC0220726 8931695-8#26#31#geners104893915 8931695-8#79#82#diseaseC0220726 associated_with R279W,DTD

DisGeNET5_gene_disease

Id Subject Object Predicate Lexical cue
8931695-1#39#58#gene1836 131-150 gene1836 denotes sulfate transporter
8931695-1#239#262#diseaseC0265274 331-354 diseaseC0265274 denotes achondrogenesis type 1B
8931695-1#264#269#diseaseC0265274 356-361 diseaseC0265274 denotes ACG1B
8931695-2#43#48#gene1836 407-412 gene1836 denotes DTDST
8931695-2#49#66#diseaseC0343284 413-430 diseaseC0343284 denotes chondrodysplasias
8931695-8#20#25#gene1836 1607-1612 gene1836 denotes DTDST
8931695-8#72#75#diseaseC1850554 1659-1662 diseaseC1850554 denotes AO2
8931695-8#79#82#diseaseC0220726 1666-1669 diseaseC0220726 denotes DTD
39#58#gene1836239#262#diseaseC0265274 8931695-1#39#58#gene1836 8931695-1#239#262#diseaseC0265274 associated_with sulfate transporter,achondrogenesis type 1B
39#58#gene1836264#269#diseaseC0265274 8931695-1#39#58#gene1836 8931695-1#264#269#diseaseC0265274 associated_with sulfate transporter,ACG1B
43#48#gene183649#66#diseaseC0343284 8931695-2#43#48#gene1836 8931695-2#49#66#diseaseC0343284 associated_with DTDST,chondrodysplasias
20#25#gene183672#75#diseaseC1850554 8931695-8#20#25#gene1836 8931695-8#72#75#diseaseC1850554 associated_with DTDST,AO2
20#25#gene183679#82#diseaseC0220726 8931695-8#20#25#gene1836 8931695-8#79#82#diseaseC0220726 associated_with DTDST,DTD

PubCasesORDO

Id Subject Object Predicate Lexical cue
AB1 109-130 ORDO:628 denotes diastrophic dysplasia
TI1 41-64 ORDO:56304 denotes atelosteogenesis type 2
TI2 69-90 ORDO:628 denotes diastrophic dysplasia
AB2 267-288 ORDO:628 denotes diastrophic dysplasia
AB3 296-319 ORDO:56304 denotes atelosteogenesis type 2

NCBIDiseaseCorpus

Id Subject Object Predicate Lexical cue
T1 41-64 SpecificDisease:C535395 denotes atelosteogenesis type 2
T2 69-90 SpecificDisease:C536170 denotes diastrophic dysplasia
T3 109-130 Modifier:C536170 denotes diastrophic dysplasia
T4 200-217 DiseaseClass:D010009 denotes chondrodysplasias
T5 267-288 SpecificDisease:C536170 denotes diastrophic dysplasia
T6 290-293 SpecificDisease:C536170 denotes DTD
T7 296-319 SpecificDisease:C535395 denotes atelosteogenesis type 2
T8 321-324 SpecificDisease:C535395 denotes AO2
T9 331-354 SpecificDisease:C536016 denotes achondrogenesis type 1B
T10 356-361 SpecificDisease:C536016 denotes ACG1B
T11 407-430 SpecificDisease:OMIM:222600 denotes DTDST chondrodysplasias
T12 537-541 SpecificDisease:C535395 denotes AO-2
T13 552-555 SpecificDisease:C536170 denotes DTD
T14 597-600 SpecificDisease:C535395 denotes AO2
T15 601-604 SpecificDisease:C536170 denotes DTD
T16 864-867 SpecificDisease:C536170 denotes DTD
T17 872-875 SpecificDisease:C535395 denotes AO2
T18 876-879 SpecificDisease:C536170 denotes DTD
T19 1281-1284 SpecificDisease:C535395 denotes AO2
T20 1659-1662 SpecificDisease:C535395 denotes AO2
T21 1666-1669 SpecificDisease:C536170 denotes DTD
T22 1773-1778 Modifier:C536016 denotes ACG1B

ncbi-valid-gpt-nr-ng

Id Subject Object Predicate Lexical cue
T1 41-64 SpecificDisease denotes atelosteogenesis type 2
T2 69-90 SpecificDisease denotes diastrophic dysplasia
T3 200-217 DiseaseClass denotes chondrodysplasias
T4 267-294 CompositeMention denotes diastrophic dysplasia (DTD)
T5 296-325 CompositeMention denotes atelosteogenesis type 2 (AO2)
T6 331-362 CompositeMention denotes achondrogenesis type 1B (ACG1B)
T7 413-430 DiseaseClass denotes chondrodysplasias
T8 537-541 SpecificDisease denotes AO-2
T9 552-555 SpecificDisease denotes DTD
T10 597-604 CompositeMention denotes AO2/DTD

ncbi-valid-gpt-r-g

Id Subject Object Predicate Lexical cue
T1 41-64 SpecificDisease denotes atelosteogenesis type 2
T2 69-90 SpecificDisease denotes diastrophic dysplasia
T3 200-217 DiseaseClass denotes chondrodysplasias
T4 267-288 SpecificDisease denotes diastrophic dysplasia
T5 290-293 SpecificDisease denotes DTD
T6 296-319 SpecificDisease denotes atelosteogenesis type 2
T7 321-324 SpecificDisease denotes AO2
T8 331-354 SpecificDisease denotes achondrogenesis type 1B
T9 356-361 SpecificDisease denotes ACG1B
T10 407-430 DiseaseClass denotes DTDST chondrodysplasias
T11 537-541 SpecificDisease denotes AO-2
T12 552-555 SpecificDisease denotes DTD
T13 597-604 CompositeMention denotes AO2/DTD
T14 864-879 CompositeMention denotes DTD and AO2/DTD
T15 1281-1284 SpecificDisease denotes AO2
T16 1659-1669 CompositeMention denotes AO2 or DTD
T17 1773-1778 SpecificDisease denotes ACG1B

ncbi-valid-gpt-nr-g

Id Subject Object Predicate Lexical cue
T1 41-64 SpecificDisease denotes atelosteogenesis type 2
T2 69-90 SpecificDisease denotes diastrophic dysplasia
T3 200-217 DiseaseClass denotes chondrodysplasias
T4 267-288 SpecificDisease denotes diastrophic dysplasia
T5 290-293 SpecificDisease denotes DTD
T6 296-319 SpecificDisease denotes atelosteogenesis type 2
T7 321-324 SpecificDisease denotes AO2
T8 331-354 SpecificDisease denotes achondrogenesis type 1B
T9 356-361 SpecificDisease denotes ACG1B
T10 413-430 DiseaseClass denotes chondrodysplasias
T11 537-541 SpecificDisease denotes AO-2
T12 552-555 SpecificDisease denotes DTD
T13 597-604 CompositeMention denotes AO2/DTD
T14 840-843 SpecificDisease denotes DTD
T15 872-879 CompositeMention denotes AO2/DTD
T16 1281-1284 SpecificDisease denotes AO2
T17 1659-1669 CompositeMention denotes AO2 or DTD
T18 1773-1778 Modifier denotes ACG1B

ncbi-valid

Id Subject Object Predicate Lexical cue
T1 41-64 SpecificDisease denotes atelosteogenesis type 2
T2 69-90 SpecificDisease denotes diastrophic dysplasia
T3 109-130 Modifier denotes diastrophic dysplasia
T4 200-217 DiseaseClass denotes chondrodysplasias
T5 267-288 SpecificDisease denotes diastrophic dysplasia
T6 290-293 SpecificDisease denotes DTD
T7 296-319 SpecificDisease denotes atelosteogenesis type 2
T8 321-324 SpecificDisease denotes AO2
T9 331-354 SpecificDisease denotes achondrogenesis type 1B
T10 356-361 SpecificDisease denotes ACG1B
T11 407-430 SpecificDisease denotes DTDST chondrodysplasias
T12 537-541 SpecificDisease denotes AO-2
T13 552-555 SpecificDisease denotes DTD
T14 597-600 SpecificDisease denotes AO2
T15 601-604 SpecificDisease denotes DTD
T16 864-867 SpecificDisease denotes DTD
T17 872-875 SpecificDisease denotes AO2
T18 876-879 SpecificDisease denotes DTD
T19 1281-1284 SpecificDisease denotes AO2
T20 1659-1662 SpecificDisease denotes AO2
T21 1666-1669 SpecificDisease denotes DTD
T22 1773-1778 Modifier denotes ACG1B

ncbi-valid-gpt-r-ng

Id Subject Object Predicate Lexical cue
T1 41-64 SpecificDisease denotes atelosteogenesis type 2
T2 69-90 SpecificDisease denotes diastrophic dysplasia
T3 200-217 DiseaseClass denotes chondrodysplasias
T4 267-288 SpecificDisease denotes diastrophic dysplasia
T5 290-293 SpecificDisease denotes DTD
T6 296-319 SpecificDisease denotes atelosteogenesis type 2
T7 321-324 SpecificDisease denotes AO2
T8 331-354 SpecificDisease denotes achondrogenesis type 1B
T9 356-361 SpecificDisease denotes ACG1B
T10 413-430 DiseaseClass denotes chondrodysplasias
T11 537-541 SpecificDisease denotes AO-2
T12 552-555 SpecificDisease denotes DTD
T13 597-604 CompositeMention denotes AO2/DTD
T14 840-843 SpecificDisease denotes DTD
T15 872-879 CompositeMention denotes AO2/DTD
T16 1281-1284 SpecificDisease denotes AO2
T17 1659-1662 SpecificDisease denotes AO2
T18 1666-1669 SpecificDisease denotes DTD
T19 1773-1778 SpecificDisease denotes ACG1B

ncbi-valid-gemini-nr-ng

Id Subject Object Predicate Lexical cue
T1 41-64 SpecificDisease denotes atelosteogenesis type 2
T2 69-90 SpecificDisease denotes diastrophic dysplasia
T3 200-217 DiseaseClass denotes chondrodysplasias
T4 267-288 SpecificDisease denotes diastrophic dysplasia
T5 290-293 SpecificDisease denotes DTD
T6 296-319 SpecificDisease denotes atelosteogenesis type 2
T7 321-324 SpecificDisease denotes AO2
T8 331-354 SpecificDisease denotes achondrogenesis type 1B
T9 356-361 SpecificDisease denotes ACG1B
T10 407-430 CompositeMention denotes DTDST chondrodysplasias
T11 537-541 SpecificDisease denotes AO-2
T12 552-555 SpecificDisease denotes DTD
T13 597-604 CompositeMention denotes AO2/DTD
T14 872-875 SpecificDisease denotes AO2
T15 1082-1085 SpecificDisease denotes DTD
T16 1281-1284 SpecificDisease denotes AO2
T17 1773-1778 SpecificDisease denotes ACG1B

ncbi-valid-gemini-nr-g

Id Subject Object Predicate Lexical cue
T1 41-64 SpecificDisease denotes atelosteogenesis type 2
T2 69-90 SpecificDisease denotes diastrophic dysplasia
T3 200-217 DiseaseClass denotes chondrodysplasias
T4 267-288 SpecificDisease denotes diastrophic dysplasia
T5 290-293 SpecificDisease denotes DTD
T6 296-319 SpecificDisease denotes atelosteogenesis type 2
T7 321-324 SpecificDisease denotes AO2
T8 331-354 SpecificDisease denotes achondrogenesis type 1B
T9 356-361 SpecificDisease denotes ACG1B
T10 407-430 DiseaseClass denotes DTDST chondrodysplasias
T11 537-541 SpecificDisease denotes AO-2
T12 552-555 SpecificDisease denotes DTD
T13 597-604 CompositeMention denotes AO2/DTD
T14 840-843 SpecificDisease denotes DTD
T15 872-875 SpecificDisease denotes AO2
T16 1250-1253 SpecificDisease denotes DTD
T17 1281-1284 SpecificDisease denotes AO2
T18 1773-1778 SpecificDisease denotes ACG1B

ncbi-valid-gemini-r-g

Id Subject Object Predicate Lexical cue
T1 41-64 SpecificDisease denotes atelosteogenesis type 2
T2 69-90 SpecificDisease denotes diastrophic dysplasia
T3 200-217 DiseaseClass denotes chondrodysplasias
T4 267-288 SpecificDisease denotes diastrophic dysplasia
T5 290-293 SpecificDisease denotes DTD
T6 296-319 SpecificDisease denotes atelosteogenesis type 2
T7 321-324 SpecificDisease denotes AO2
T8 331-354 SpecificDisease denotes achondrogenesis type 1B
T9 356-361 SpecificDisease denotes ACG1B
T10 413-430 Modifier denotes chondrodysplasias
T11 537-541 SpecificDisease denotes AO-2
T12 552-555 SpecificDisease denotes DTD
T13 597-604 CompositeMention denotes AO2/DTD
T14 872-875 SpecificDisease denotes AO2
T15 1659-1669 CompositeMention denotes AO2 or DTD
T16 1773-1778 SpecificDisease denotes ACG1B

ncbi-valid-deepseek-nr-ng

Id Subject Object Predicate Lexical cue
T1 41-64 SpecificDisease denotes atelosteogenesis type 2
T2 69-90 SpecificDisease denotes diastrophic dysplasia
T3 156-159 SpecificDisease denotes DTD
T4 290-293 SpecificDisease denotes DTD
T5 321-324 SpecificDisease denotes AO2
T6 331-354 SpecificDisease denotes achondrogenesis type 1B
T7 356-361 SpecificDisease denotes ACG1B
T8 537-541 SpecificDisease denotes AO-2
T9 552-555 SpecificDisease denotes DTD
T10 597-604 CompositeMention denotes AO2/DTD
T11 872-875 SpecificDisease denotes AO2
T12 1082-1085 SpecificDisease denotes DTD
T13 1773-1778 SpecificDisease denotes ACG1B

ncbi-valid-deepseek-nr-g

Id Subject Object Predicate Lexical cue
T1 0-91 CompositeMention denotes Phenotypic and genotypic overlap between atelosteogenesis type 2 and diastrophic dysplasia.
T2 109-150 Modifier denotes diastrophic dysplasia sulfate transporter
T3 156-161 SpecificDisease denotes DTDST
T4 200-217 DiseaseClass denotes chondrodysplasias
T5 267-288 SpecificDisease denotes diastrophic dysplasia
T6 290-293 SpecificDisease denotes DTD
T7 296-319 SpecificDisease denotes atelosteogenesis type 2
T8 321-324 SpecificDisease denotes AO2
T9 331-354 SpecificDisease denotes achondrogenesis type 1B
T10 356-361 SpecificDisease denotes ACG1B
T11 407-430 Modifier denotes DTDST chondrodysplasias
T12 537-541 SpecificDisease denotes AO-2
T13 552-555 SpecificDisease denotes DTD
T14 597-604 CompositeMention denotes AO2/DTD
T15 840-843 SpecificDisease denotes DTD
T16 864-867 SpecificDisease denotes DTD
T17 872-879 CompositeMention denotes AO2/DTD
T18 1082-1085 SpecificDisease denotes DTD
T19 1250-1253 SpecificDisease denotes DTD
T20 1281-1284 SpecificDisease denotes AO2
T21 1607-1610 SpecificDisease denotes DTD
T22 1659-1662 SpecificDisease denotes AO2
T23 1666-1669 SpecificDisease denotes DTD

ncbi-valid-deepseek-r-g

Id Subject Object Predicate Lexical cue
T1 41-64 SpecificDisease denotes atelosteogenesis type 2
T2 69-90 SpecificDisease denotes diastrophic dysplasia
T3 109-130 SpecificDisease denotes diastrophic dysplasia
T4 156-159 SpecificDisease denotes DTD
T5 200-217 DiseaseClass denotes chondrodysplasias
T6 290-293 SpecificDisease denotes DTD
T7 296-319 SpecificDisease denotes atelosteogenesis type 2
T8 321-324 SpecificDisease denotes AO2
T9 331-354 SpecificDisease denotes achondrogenesis type 1B
T10 356-361 SpecificDisease denotes ACG1B
T11 407-410 SpecificDisease denotes DTD
T12 537-541 SpecificDisease denotes AO-2
T13 552-555 SpecificDisease denotes DTD
T14 597-604 CompositeMention denotes AO2/DTD

ncbi-valid-deepseek-r-ng

Id Subject Object Predicate Lexical cue
T1 41-64 SpecificDisease denotes atelosteogenesis type 2
T2 69-90 SpecificDisease denotes diastrophic dysplasia
T3 131-161 CompositeMention denotes sulfate transporter gene DTDST
T4 200-217 DiseaseClass denotes chondrodysplasias
T5 331-354 SpecificDisease denotes achondrogenesis type 1B
T6 573-595 Modifier denotes intermediate phenotype
T7 597-604 CompositeMention denotes AO2/DTD
T8 756-772 Modifier denotes c862t transition
T9 786-804 Modifier denotes R279W substitution
T10 1072-1081 Modifier denotes wild-type
T11 1347-1371 Modifier denotes deletion of cytosine 418
T12 1373-1383 Modifier denotes delta c418
T13 1415-1436 Modifier denotes premature termination

ncbi-valid-gemini-r-ng

Id Subject Object Predicate Lexical cue
T1 41-64 SpecificDisease denotes atelosteogenesis type 2
T2 69-90 SpecificDisease denotes diastrophic dysplasia
T3 200-217 DiseaseClass denotes chondrodysplasias
T4 267-288 SpecificDisease denotes diastrophic dysplasia
T5 290-293 SpecificDisease denotes DTD
T6 296-319 SpecificDisease denotes atelosteogenesis type 2
T7 321-324 SpecificDisease denotes AO2
T8 331-354 SpecificDisease denotes achondrogenesis type 1B
T9 356-361 SpecificDisease denotes ACG1B
T10 407-430 CompositeMention denotes DTDST chondrodysplasias
T11 537-541 SpecificDisease denotes AO-2
T12 552-555 SpecificDisease denotes DTD
T13 597-604 CompositeMention denotes AO2/DTD
T14 840-843 SpecificDisease denotes DTD
T15 872-879 CompositeMention denotes AO2/DTD
T16 1154-1161 Modifier denotes Finnish
T17 1250-1253 SpecificDisease denotes DTD
T18 1281-1284 SpecificDisease denotes AO2
T19 1773-1778 SpecificDisease denotes ACG1B

ncbi-valid-gemini-r-m

Id Subject Object Predicate Lexical cue
T1 41-64 SpecificDisease denotes atelosteogenesis type 2
T2 69-90 SpecificDisease denotes diastrophic dysplasia
T3 200-217 DiseaseClass denotes chondrodysplasias
T4 267-288 SpecificDisease denotes diastrophic dysplasia
T5 290-293 SpecificDisease denotes DTD
T6 296-319 SpecificDisease denotes atelosteogenesis type 2
T7 321-324 SpecificDisease denotes AO2
T8 331-354 SpecificDisease denotes achondrogenesis type 1B
T9 356-361 SpecificDisease denotes ACG1B
T10 407-412 Modifier denotes DTDST
T11 413-430 DiseaseClass denotes chondrodysplasias
T12 537-541 SpecificDisease denotes AO-2
T13 597-604 CompositeMention denotes AO2/DTD
T14 872-875 SpecificDisease denotes AO2
T15 1250-1253 SpecificDisease denotes DTD
T16 1281-1284 SpecificDisease denotes AO2
T17 1773-1778 SpecificDisease denotes ACG1B

ncbi-valid-gpt-r-m

Id Subject Object Predicate Lexical cue
T1 41-64 SpecificDisease denotes atelosteogenesis type 2
T2 69-90 SpecificDisease denotes diastrophic dysplasia
T3 200-217 DiseaseClass denotes chondrodysplasias
T4 267-288 SpecificDisease denotes diastrophic dysplasia
T5 290-293 SpecificDisease denotes DTD
T6 296-319 SpecificDisease denotes atelosteogenesis type 2
T7 321-324 SpecificDisease denotes AO2
T8 331-354 SpecificDisease denotes achondrogenesis type 1B
T9 356-361 SpecificDisease denotes ACG1B
T10 407-430 DiseaseClass denotes DTDST chondrodysplasias
T11 537-541 SpecificDisease denotes AO-2
T12 552-555 SpecificDisease denotes DTD
T13 597-600 SpecificDisease denotes AO2
T14 601-604 SpecificDisease denotes DTD
T15 840-843 SpecificDisease denotes DTD
T16 872-875 SpecificDisease denotes AO2
T17 1281-1284 SpecificDisease denotes AO2
T18 1659-1662 SpecificDisease denotes AO2
T19 1666-1669 SpecificDisease denotes DTD
T20 1773-1778 SpecificDisease denotes ACG1B

ncbi-valid-deepseek-r-m

Id Subject Object Predicate Lexical cue
T1 41-64 SpecificDisease denotes atelosteogenesis type 2
T2 69-90 SpecificDisease denotes diastrophic dysplasia
T3 200-217 DiseaseClass denotes chondrodysplasias
T4 267-288 SpecificDisease denotes diastrophic dysplasia
T5 290-293 SpecificDisease denotes DTD
T6 296-319 SpecificDisease denotes atelosteogenesis type 2
T7 321-324 SpecificDisease denotes AO2
T8 331-354 SpecificDisease denotes achondrogenesis type 1B
T9 356-361 SpecificDisease denotes ACG1B
T10 407-410 SpecificDisease denotes DTD
T11 413-430 DiseaseClass denotes chondrodysplasias
T12 537-541 SpecificDisease denotes AO-2
T13 552-555 SpecificDisease denotes DTD
T14 597-604 CompositeMention denotes AO2/DTD

NCBI-Disease-Develop

Id Subject Object Predicate Lexical cue database_id
T462 41-64 SpecificDisease denotes atelosteogenesis type 2 C535395
T463 69-90 SpecificDisease denotes diastrophic dysplasia C536170
T464 109-130 Modifier denotes diastrophic dysplasia C536170
T465 200-217 DiseaseClass denotes chondrodysplasias D010009
T466 267-288 SpecificDisease denotes diastrophic dysplasia C536170
T467 290-293 SpecificDisease denotes DTD C536170
T468 296-319 SpecificDisease denotes atelosteogenesis type 2 C535395
T469 321-324 SpecificDisease denotes AO2 C535395
T470 331-354 SpecificDisease denotes achondrogenesis type 1B C536016
T471 356-361 SpecificDisease denotes ACG1B C536016
T472 407-430 SpecificDisease denotes DTDST chondrodysplasias OMIM:222600
T473 537-541 SpecificDisease denotes AO-2 C535395
T474 552-555 SpecificDisease denotes DTD C536170
T475 597-600 SpecificDisease denotes AO2 C535395
T476 601-604 SpecificDisease denotes DTD C536170
T477 864-867 SpecificDisease denotes DTD C536170
T478 872-875 SpecificDisease denotes AO2 C535395
T479 876-879 SpecificDisease denotes DTD C536170
T480 1281-1284 SpecificDisease denotes AO2 C535395
T481 1659-1662 SpecificDisease denotes AO2 C535395
T482 1666-1669 SpecificDisease denotes DTD C536170
T483 1773-1778 Modifier denotes ACG1B C536016

NCBI-Disease-Corpus-All

Id Subject Object Predicate Lexical cue database_id
T462 41-64 SpecificDisease denotes atelosteogenesis type 2 C535395
T463 69-90 SpecificDisease denotes diastrophic dysplasia C536170
T464 109-130 Modifier denotes diastrophic dysplasia C536170
T465 200-217 DiseaseClass denotes chondrodysplasias D010009
T466 267-288 SpecificDisease denotes diastrophic dysplasia C536170
T467 290-293 SpecificDisease denotes DTD C536170
T468 296-319 SpecificDisease denotes atelosteogenesis type 2 C535395
T469 321-324 SpecificDisease denotes AO2 C535395
T470 331-354 SpecificDisease denotes achondrogenesis type 1B C536016
T471 356-361 SpecificDisease denotes ACG1B C536016
T472 407-430 SpecificDisease denotes DTDST chondrodysplasias OMIM:222600
T473 537-541 SpecificDisease denotes AO-2 C535395
T474 552-555 SpecificDisease denotes DTD C536170
T475 597-600 SpecificDisease denotes AO2 C535395
T476 601-604 SpecificDisease denotes DTD C536170
T477 864-867 SpecificDisease denotes DTD C536170
T478 872-875 SpecificDisease denotes AO2 C535395
T479 876-879 SpecificDisease denotes DTD C536170
T480 1281-1284 SpecificDisease denotes AO2 C535395
T481 1659-1662 SpecificDisease denotes AO2 C535395
T482 1666-1669 SpecificDisease denotes DTD C536170
T483 1773-1778 Modifier denotes ACG1B C536016

NCBI-Disease-Corpus-2stage-All

Id Subject Object Predicate Lexical cue
T1 41-64 SpecificDisease denotes atelosteogenesis type 2
T2 69-90 SpecificDisease denotes diastrophic dysplasia
T3 109-130 Modifier denotes diastrophic dysplasia
T4 200-217 DiseaseClass denotes chondrodysplasias
T5 267-288 SpecificDisease denotes diastrophic dysplasia
T6 296-319 SpecificDisease denotes atelosteogenesis type 2
T7 331-354 SpecificDisease denotes achondrogenesis type 1B
T8 413-430 DiseaseClass denotes chondrodysplasias
T9 537-541 SpecificDisease denotes AO-2
T10 552-555 SpecificDisease denotes DTD
T11 597-600 CompositeMention denotes AO2
T12 601-604 CompositeMention denotes DTD
T13 864-867 SpecificDisease denotes DTD
T14 872-875 CompositeMention denotes AO2
T15 876-879 CompositeMention denotes DTD
T16 1281-1284 SpecificDisease denotes AO2
T17 1659-1662 SpecificDisease denotes AO2
T18 1666-1669 SpecificDisease denotes DTD
T19 1773-1778 SpecificDisease denotes ACG1B

NCBI-Disease-Corpus-rezarta-All

Id Subject Object Predicate Lexical cue
T1 41-64 SpecificDisease denotes atelosteogenesis type 2
T2 69-90 SpecificDisease denotes diastrophic dysplasia
T3 109-130 Modifier denotes diastrophic dysplasia
T4 200-217 DiseaseClass denotes chondrodysplasias
T5 267-288 SpecificDisease denotes diastrophic dysplasia
T6 296-319 SpecificDisease denotes atelosteogenesis type 2
T7 331-354 SpecificDisease denotes achondrogenesis type 1B
T8 413-430 DiseaseClass denotes chondrodysplasias
T9 597-604 CompositeMention denotes AO2/DTD
T10 872-879 CompositeMention denotes AO2/DTD
T11 1659-1662 SpecificDisease denotes AO2
T12 1666-1669 SpecificDisease denotes DTD
T13 1773-1778 SpecificDisease denotes ACG1B

NCBI-Disease-Corpus-4oGuideline-All

Id Subject Object Predicate Lexical cue
T1 41-64 SpecificDisease denotes atelosteogenesis type 2
T2 69-90 SpecificDisease denotes diastrophic dysplasia
T3 109-130 SpecificDisease denotes diastrophic dysplasia
T4 267-294 SpecificDisease denotes diastrophic dysplasia (DTD)
T5 296-325 SpecificDisease denotes atelosteogenesis type 2 (AO2)
T6 331-362 SpecificDisease denotes achondrogenesis type 1B (ACG1B)
T7 537-541 SpecificDisease denotes AO-2
T8 552-555 SpecificDisease denotes DTD
T9 864-867 SpecificDisease denotes DTD
T10 1281-1284 SpecificDisease denotes AO2
T11 1659-1662 SpecificDisease denotes AO2
T12 1666-1669 SpecificDisease denotes DTD
T13 1773-1778 SpecificDisease denotes ACG1B

NCBI-Disease-Corpus-Simple-All

Id Subject Object Predicate Lexical cue
T1 41-64 SpecificDisease denotes atelosteogenesis type 2
T2 69-90 SpecificDisease denotes diastrophic dysplasia
T3 109-130 SpecificDisease denotes diastrophic dysplasia
T4 267-294 SpecificDisease denotes diastrophic dysplasia (DTD)
T5 296-325 SpecificDisease denotes atelosteogenesis type 2 (AO2)
T6 331-362 SpecificDisease denotes achondrogenesis type 1B (ACG1B)
T7 537-541 Modifier denotes AO-2
T8 552-555 Modifier denotes DTD
T9 573-605 CompositeMention denotes intermediate phenotype (AO2/DTD)
T10 864-867 Modifier denotes DTD
T11 872-879 Modifier denotes AO2/DTD
T12 1281-1284 Modifier denotes AO2
T13 1659-1662 SpecificDisease denotes AO2
T14 1666-1669 SpecificDisease denotes DTD
T15 1773-1778 SpecificDisease denotes ACG1B