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PubMed:8325895 JSONTXT

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Glycosmos6-MAT

Id Subject Object Predicate Lexical cue
T1 352-361 http://purl.obolibrary.org/obo/MAT_0000189 denotes cartilage
T2 1338-1347 http://purl.obolibrary.org/obo/MAT_0000189 denotes cartilage
T3 1618-1627 http://purl.obolibrary.org/obo/MAT_0000189 denotes cartilage

sentences

Id Subject Object Predicate Lexical cue
TextSentencer_T1 0-140 Sentence denotes Characterization of an arginine 789 to cysteine substitution in alpha 1 (II) collagen chains of a patient with spondyloepiphyseal dysplasia.
TextSentencer_T2 141-312 Sentence denotes A child with spondyloepiphyseal dysplasia congenita was shown to be heterozygous for a mutation of the COL2A1 gene that encodes the alpha 1 (II) chain of type II collagen.
TextSentencer_T3 313-430 Sentence denotes The alpha 1 (II) chains extracted from cartilage contained disulfide-bonded dimeric and trimeric alpha 1 (II) chains.
TextSentencer_T4 431-582 Sentence denotes Carboxymethylation confirmed that some of the type II collagen chains contained cysteine residues that are not normally present in alpha 1 (II) chains.
TextSentencer_T5 583-705 Sentence denotes Cyanogen bromide peptide mapping showed that the abnormal cysteine residue was located in the alpha 1 (II) CB10.5 peptide.
TextSentencer_T6 706-935 Sentence denotes Amplification products of the corresponding region of alpha 1 (II) cDNA prepared from cultured dermal fibroblasts were shown by chemical cleavage and single strand conformation polymorphism analyses to contain a sequence anomaly.
TextSentencer_T7 936-1109 Sentence denotes DNA sequencing showed a transition of C2913T in exon 41 of one allele of the COL2A1 gene resulting in the substitution of arginine 789 by cysteine in the alpha 1 (II) chain.
TextSentencer_T8 1110-1301 Sentence denotes The mutation resulted in the loss of a MaeII cleavage site that was used to confirm that the proband was heterozygous for the mutation and that neither parent showed evidence of the mutation.
TextSentencer_T9 1302-1428 Sentence denotes The type II collagen extracted from cartilage and from chondrocytes cultured in alginate beads showed similar characteristics.
TextSentencer_T10 1429-1564 Sentence denotes Approximately a third of the type II collagen chains were mutant, and the secretion of molecules containing mutant chains was impaired.
TextSentencer_T11 1565-1639 Sentence denotes The thermal stability of the collagen extracted from cartilage was normal.
TextSentencer_T12 1640-1792 Sentence denotes This study confirmed the importance of dominant negative mutations of the COL2A1 gene in producing the spondyloepiphyseal dysplasia congenita phenotype.
T1 0-140 Sentence denotes Characterization of an arginine 789 to cysteine substitution in alpha 1 (II) collagen chains of a patient with spondyloepiphyseal dysplasia.
T2 141-312 Sentence denotes A child with spondyloepiphyseal dysplasia congenita was shown to be heterozygous for a mutation of the COL2A1 gene that encodes the alpha 1 (II) chain of type II collagen.
T3 313-430 Sentence denotes The alpha 1 (II) chains extracted from cartilage contained disulfide-bonded dimeric and trimeric alpha 1 (II) chains.
T4 431-582 Sentence denotes Carboxymethylation confirmed that some of the type II collagen chains contained cysteine residues that are not normally present in alpha 1 (II) chains.
T5 583-705 Sentence denotes Cyanogen bromide peptide mapping showed that the abnormal cysteine residue was located in the alpha 1 (II) CB10.5 peptide.
T6 706-935 Sentence denotes Amplification products of the corresponding region of alpha 1 (II) cDNA prepared from cultured dermal fibroblasts were shown by chemical cleavage and single strand conformation polymorphism analyses to contain a sequence anomaly.
T7 936-1109 Sentence denotes DNA sequencing showed a transition of C2913T in exon 41 of one allele of the COL2A1 gene resulting in the substitution of arginine 789 by cysteine in the alpha 1 (II) chain.
T8 1110-1301 Sentence denotes The mutation resulted in the loss of a MaeII cleavage site that was used to confirm that the proband was heterozygous for the mutation and that neither parent showed evidence of the mutation.
T9 1302-1428 Sentence denotes The type II collagen extracted from cartilage and from chondrocytes cultured in alginate beads showed similar characteristics.
T10 1429-1564 Sentence denotes Approximately a third of the type II collagen chains were mutant, and the secretion of molecules containing mutant chains was impaired.
T11 1565-1639 Sentence denotes The thermal stability of the collagen extracted from cartilage was normal.
T12 1640-1792 Sentence denotes This study confirmed the importance of dominant negative mutations of the COL2A1 gene in producing the spondyloepiphyseal dysplasia congenita phenotype.

DisGeNET

Id Subject Object Predicate Lexical cue
T0 64-71 gene:146 denotes alpha 1
T1 111-139 disease:C0038015 denotes spondyloepiphyseal dysplasia
T2 64-71 gene:146 denotes alpha 1
T3 111-139 disease:C2745959 denotes spondyloepiphyseal dysplasia
R1 T0 T1 associated_with alpha 1,spondyloepiphyseal dysplasia
R2 T2 T3 associated_with alpha 1,spondyloepiphyseal dysplasia

DisGeNET5_gene_disease

Id Subject Object Predicate Lexical cue
8325895-11#74#80#gene1280 1714-1720 gene1280 denotes COL2A1
8325895-11#103#141#diseaseC2745959 1743-1781 diseaseC2745959 denotes spondyloepiphyseal dysplasia congenita
74#80#gene1280103#141#diseaseC2745959 8325895-11#74#80#gene1280 8325895-11#103#141#diseaseC2745959 associated_with COL2A1,spondyloepiphyseal dysplasia congenita

PubCasesHPO

Id Subject Object Predicate Lexical cue
AB1 154-182 HP:0002655 denotes spondyloepiphyseal dysplasia
TI1 111-139 HP:0002655 denotes spondyloepiphyseal dysplasia
AB2 1743-1771 HP:0002655 denotes spondyloepiphyseal dysplasia

PubCasesORDO

Id Subject Object Predicate Lexical cue
AB1 154-192 ORDO:94068 denotes spondyloepiphyseal dysplasia congenita
AB2 1743-1781 ORDO:94068 denotes spondyloepiphyseal dysplasia congenita

HP-phenotype

Id Subject Object Predicate Lexical cue hp_id
T1 111-139 Phenotype denotes spondyloepiphyseal dysplasia HP:0002655
T2 154-182 Phenotype denotes spondyloepiphyseal dysplasia HP:0002655
T3 1743-1771 Phenotype denotes spondyloepiphyseal dysplasia HP:0002655

mondo_disease

Id Subject Object Predicate Lexical cue mondo_id
T1 111-139 Disease denotes spondyloepiphyseal dysplasia http://purl.obolibrary.org/obo/MONDO_0007738
T2 154-192 Disease denotes spondyloepiphyseal dysplasia congenita http://purl.obolibrary.org/obo/MONDO_0008471
T3 244-250 Disease denotes COL2A1 http://purl.obolibrary.org/obo/MONDO_0022800
T4 1013-1019 Disease denotes COL2A1 http://purl.obolibrary.org/obo/MONDO_0022800
T5 1714-1720 Disease denotes COL2A1 http://purl.obolibrary.org/obo/MONDO_0022800
T6 1743-1781 Disease denotes spondyloepiphyseal dysplasia congenita http://purl.obolibrary.org/obo/MONDO_0008471

NCBITAXON

Id Subject Object Predicate Lexical cue db_id
T1 98-105 OrganismTaxon denotes patient 9606

Anatomy-UBERON

Id Subject Object Predicate Lexical cue uberon_id
T1 352-361 Body_part denotes cartilage http://purl.obolibrary.org/obo/UBERON_0002418|http://purl.obolibrary.org/obo/UBERON_0007844
T3 808-819 Body_part denotes fibroblasts http://purl.obolibrary.org/obo/CL_0000057
T4 1338-1347 Body_part denotes cartilage http://purl.obolibrary.org/obo/UBERON_0002418|http://purl.obolibrary.org/obo/UBERON_0007844
T6 1357-1369 Body_part denotes chondrocytes http://purl.obolibrary.org/obo/CL_0000138
T7 1618-1627 Body_part denotes cartilage http://purl.obolibrary.org/obo/UBERON_0002418|http://purl.obolibrary.org/obo/UBERON_0007844

Anatomy-MAT

Id Subject Object Predicate Lexical cue mat_id
T1 352-361 Body_part denotes cartilage http://purl.obolibrary.org/obo/MAT_0000189
T2 1338-1347 Body_part denotes cartilage http://purl.obolibrary.org/obo/MAT_0000189
T3 1618-1627 Body_part denotes cartilage http://purl.obolibrary.org/obo/MAT_0000189

CL-cell

Id Subject Object Predicate Lexical cue cl_id
T1 808-819 Cell denotes fibroblasts http://purl.obolibrary.org/obo/CL:0000057
T2 1357-1369 Cell denotes chondrocytes http://purl.obolibrary.org/obo/CL:0000138