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PubMed:7874117 JSONTXT

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sentences

Id Subject Object Predicate Lexical cue
TextSentencer_T1 0-104 Sentence denotes A single amino acid substitution (G103D) in the type II collagen triple helix produces Kniest dysplasia.
TextSentencer_T2 105-241 Sentence denotes Kniest dysplasia is a moderately severe chondrodysplasia phenotype that results from mutations in the gene for type II collagen, COL2A1.
TextSentencer_T3 242-393 Sentence denotes Characteristics of the disorder include a short trunk and extremities, mid-face hypoplasia, cleft palate, myopia, retinal detachment, and hearing loss.
TextSentencer_T4 394-614 Sentence denotes Recently, deletions of all or part of exon 12 have been identified in individuals with Kniest dysplasia, suggesting that mutations within this region of the protein may primarily result in the Kniest dysplasia phenotype.
TextSentencer_T5 615-737 Sentence denotes We used SSCP to analyze an amplified genomic DNA fragment containing exon 12 from seven individuals with Kniest dysplasia.
TextSentencer_T6 738-783 Sentence denotes An abnormality was identified in one patient.
TextSentencer_T7 784-959 Sentence denotes DNA sequence analysis demonstrated that the patient was heterozygous for a G to A transition that implied substitution of glycine103 of the triple helical domain by aspartate.
TextSentencer_T8 960-1061 Sentence denotes The mutation was not observed in DNA from either of the clinically unaffected parents of the proband.
TextSentencer_T9 1062-1146 Sentence denotes Protein microsequencing demonstrated expression of the abnormal allele in cartilage.
TextSentencer_T10 1147-1433 Sentence denotes These data demonstrate that point mutations which result in single amino acid substitutions can produce Kniest dysplasia and further support the hypothesis that alteration of a domain, which includes the region encoded by exon 12, in the type II collagen protein leads to this disorder.
T1 0-104 Sentence denotes A single amino acid substitution (G103D) in the type II collagen triple helix produces Kniest dysplasia.
T2 105-241 Sentence denotes Kniest dysplasia is a moderately severe chondrodysplasia phenotype that results from mutations in the gene for type II collagen, COL2A1.
T3 242-393 Sentence denotes Characteristics of the disorder include a short trunk and extremities, mid-face hypoplasia, cleft palate, myopia, retinal detachment, and hearing loss.
T4 394-614 Sentence denotes Recently, deletions of all or part of exon 12 have been identified in individuals with Kniest dysplasia, suggesting that mutations within this region of the protein may primarily result in the Kniest dysplasia phenotype.
T5 615-737 Sentence denotes We used SSCP to analyze an amplified genomic DNA fragment containing exon 12 from seven individuals with Kniest dysplasia.
T6 738-783 Sentence denotes An abnormality was identified in one patient.
T7 784-959 Sentence denotes DNA sequence analysis demonstrated that the patient was heterozygous for a G to A transition that implied substitution of glycine103 of the triple helical domain by aspartate.
T8 960-1061 Sentence denotes The mutation was not observed in DNA from either of the clinically unaffected parents of the proband.
T9 1062-1146 Sentence denotes Protein microsequencing demonstrated expression of the abnormal allele in cartilage.
T10 1147-1433 Sentence denotes These data demonstrate that point mutations which result in single amino acid substitutions can produce Kniest dysplasia and further support the hypothesis that alteration of a domain, which includes the region encoded by exon 12, in the type II collagen protein leads to this disorder.

performance-test

Id Subject Object Predicate Lexical cue
PD-UBERON-AE-B_T1 72-77 http://purl.obolibrary.org/obo/UBERON_0002488 denotes helix
PD-UBERON-AE-B_T2 290-295 http://purl.obolibrary.org/obo/UBERON_0002100 denotes trunk
PD-UBERON-AE-B_T3 317-321 http://purl.obolibrary.org/obo/UBERON_0001456 denotes face

PubCasesHPO

Id Subject Object Predicate Lexical cue
AB1 334-346 HP:0000175 denotes cleft palate
AB2 348-354 HP:0000545 denotes myopia
AB3 356-374 HP:0000541 denotes retinal detachment

UBERON-AE

Id Subject Object Predicate Lexical cue
PD-UBERON-AE-B_T1 72-77 http://purl.obolibrary.org/obo/UBERON_0002488 denotes helix
PD-UBERON-AE-B_T2 290-295 http://purl.obolibrary.org/obo/UBERON_0002100 denotes trunk
PD-UBERON-AE-B_T3 317-321 http://purl.obolibrary.org/obo/UBERON_0001456 denotes face

PubCasesORDO

Id Subject Object Predicate Lexical cue
AB1 105-121 ORDO:485 denotes Kniest dysplasia
TI1 87-103 ORDO:485 denotes Kniest dysplasia
AB2 481-497 ORDO:485 denotes Kniest dysplasia
AB3 587-603 ORDO:485 denotes Kniest dysplasia
AB4 720-736 ORDO:485 denotes Kniest dysplasia
AB5 1251-1267 ORDO:485 denotes Kniest dysplasia

NCBIDiseaseCorpus

Id Subject Object Predicate Lexical cue
T1 87-103 SpecificDisease:C537207 denotes Kniest dysplasia
T2 105-121 SpecificDisease:C537207 denotes Kniest dysplasia
T3 145-161 Modifier:D010009 denotes chondrodysplasia
T4 284-311 SpecificDisease:D006130 denotes short trunk and extremities
T5 313-332 DiseaseClass:D019767 denotes mid-face hypoplasia
T6 334-346 SpecificDisease:D002972 denotes cleft palate
T7 348-354 DiseaseClass:D009216 denotes myopia
T8 356-374 SpecificDisease:D012163 denotes retinal detachment
T9 380-392 DiseaseClass:D034381 denotes hearing loss
T10 481-497 SpecificDisease:C537207 denotes Kniest dysplasia
T11 587-603 Modifier:C537207 denotes Kniest dysplasia
T12 720-736 SpecificDisease:C537207 denotes Kniest dysplasia
T13 1251-1267 SpecificDisease:C537207 denotes Kniest dysplasia

NCBI-Disease-Train

Id Subject Object Predicate Lexical cue database_id
T4646 87-103 SpecificDisease denotes Kniest dysplasia C537207
T4647 105-121 SpecificDisease denotes Kniest dysplasia C537207
T4648 145-161 Modifier denotes chondrodysplasia D010009
T4649 284-311 SpecificDisease denotes short trunk and extremities D006130
T4650 313-332 DiseaseClass denotes mid-face hypoplasia D019767
T4651 334-346 SpecificDisease denotes cleft palate D002972
T4652 348-354 DiseaseClass denotes myopia D009216
T4653 356-374 SpecificDisease denotes retinal detachment D012163
T4654 380-392 DiseaseClass denotes hearing loss D034381
T4655 481-497 SpecificDisease denotes Kniest dysplasia C537207
T4656 587-603 Modifier denotes Kniest dysplasia C537207
T4657 720-736 SpecificDisease denotes Kniest dysplasia C537207
T4658 1251-1267 SpecificDisease denotes Kniest dysplasia C537207

NCBI-Disease-Corpus-All

Id Subject Object Predicate Lexical cue database_id
T4646 87-103 SpecificDisease denotes Kniest dysplasia C537207
T4647 105-121 SpecificDisease denotes Kniest dysplasia C537207
T4648 145-161 Modifier denotes chondrodysplasia D010009
T4649 284-311 SpecificDisease denotes short trunk and extremities D006130
T4650 313-332 DiseaseClass denotes mid-face hypoplasia D019767
T4651 334-346 SpecificDisease denotes cleft palate D002972
T4652 348-354 DiseaseClass denotes myopia D009216
T4653 356-374 SpecificDisease denotes retinal detachment D012163
T4654 380-392 DiseaseClass denotes hearing loss D034381
T4655 481-497 SpecificDisease denotes Kniest dysplasia C537207
T4656 587-603 Modifier denotes Kniest dysplasia C537207
T4657 720-736 SpecificDisease denotes Kniest dysplasia C537207
T4658 1251-1267 SpecificDisease denotes Kniest dysplasia C537207

NCBI-Disease-Corpus-2stage-All

Id Subject Object Predicate Lexical cue
T1 87-103 SpecificDisease denotes Kniest dysplasia
T2 105-121 SpecificDisease denotes Kniest dysplasia
T3 481-497 SpecificDisease denotes Kniest dysplasia
T4 587-603 SpecificDisease denotes Kniest dysplasia
T5 720-736 SpecificDisease denotes Kniest dysplasia
T6 1251-1267 SpecificDisease denotes Kniest dysplasia

NCBI-Disease-Corpus-rezarta-All

Id Subject Object Predicate Lexical cue
T1 87-103 SpecificDisease denotes Kniest dysplasia
T2 105-121 SpecificDisease denotes Kniest dysplasia
T3 481-497 SpecificDisease denotes Kniest dysplasia
T4 587-603 SpecificDisease denotes Kniest dysplasia
T5 720-736 SpecificDisease denotes Kniest dysplasia
T6 1251-1267 SpecificDisease denotes Kniest dysplasia

NCBI-Disease-Corpus-4oGuideline-All

Id Subject Object Predicate Lexical cue
T1 87-103 SpecificDisease denotes Kniest dysplasia
T2 105-121 SpecificDisease denotes Kniest dysplasia
T3 481-497 SpecificDisease denotes Kniest dysplasia
T4 587-603 SpecificDisease denotes Kniest dysplasia
T5 720-736 SpecificDisease denotes Kniest dysplasia
T6 1251-1267 SpecificDisease denotes Kniest dysplasia

NCBI-Disease-Corpus-Simple-All

Id Subject Object Predicate Lexical cue
T1 87-103 SpecificDisease denotes Kniest dysplasia
T2 105-121 SpecificDisease denotes Kniest dysplasia
T3 145-161 DiseaseClass denotes chondrodysplasia
T4 481-497 SpecificDisease denotes Kniest dysplasia
T5 587-603 SpecificDisease denotes Kniest dysplasia
T6 720-736 SpecificDisease denotes Kniest dysplasia
T7 1251-1267 SpecificDisease denotes Kniest dysplasia