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PubMed:1429602 JSONTXT

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sentences

Id Subject Object Predicate Lexical cue
TextSentencer_T1 0-104 Sentence denotes An amino acid substitution (Gly853-->Glu) in the collagen alpha 1(II) chain produces hypochondrogenesis.
TextSentencer_T2 105-264 Sentence denotes The spondyloepiphyseal dysplasia subclassification of bone dysplasias includes achondrogenesis, hypochondrogenesis, and spondyloepiphyseal dysplasia congenita.
TextSentencer_T3 265-353 Sentence denotes The phenotypic expression of these disorders ranges from mild to perinatal lethal forms.
TextSentencer_T4 354-488 Sentence denotes We report the detection and partial characterization of a defect in type II collagen in a perinatal lethal form of hypochondrogenesis.
TextSentencer_T5 489-839 Sentence denotes Electrophoresis in sodium dodecyl sulfate-polyacrylamide of CB peptides (where CB represents cyanogen bromide) from type II collagen of the diseased cartilage showed a doublet band for peptide alpha 1(II)CB10 and evidence for post-translational overmodification of the major peptides (CB8, CB10, and CB11) seen as a retarded electrophoretic mobility.
TextSentencer_T6 840-991 Sentence denotes Peptide CB10 was digested by endoproteinase Asp-N; and on reverse-phase high pressure liquid chromatography, fragments of abnormal mobility were noted.
TextSentencer_T7 992-1133 Sentence denotes Sequence analysis of a unique peptide D12 revealed a single amino acid substitution (Gly-->Glu) at position 853 of the triple helical domain.
TextSentencer_T8 1134-1278 Sentence denotes This was confirmed by sequence analysis of amplified COL2A1 cDNA, which revealed a single nucleotide substitution (GGA-->GAA) in 5 of 10 clones.
TextSentencer_T9 1279-1498 Sentence denotes Electron micrographs of the diseased cartilage showed a sparse extracellular matrix and chondrocytes containing dilated rough endoplasmic reticulum, which suggested impaired assembly and secretion of the mutant protein.
TextSentencer_T10 1499-1636 Sentence denotes This case further documents the molecular basis of the spondyloepiphyseal dysplasia spectrum of chondrodysplasias as mutations in COL2A1.
T1 0-104 Sentence denotes An amino acid substitution (Gly853-->Glu) in the collagen alpha 1(II) chain produces hypochondrogenesis.
T2 105-264 Sentence denotes The spondyloepiphyseal dysplasia subclassification of bone dysplasias includes achondrogenesis, hypochondrogenesis, and spondyloepiphyseal dysplasia congenita.
T3 265-353 Sentence denotes The phenotypic expression of these disorders ranges from mild to perinatal lethal forms.
T4 354-488 Sentence denotes We report the detection and partial characterization of a defect in type II collagen in a perinatal lethal form of hypochondrogenesis.
T5 489-839 Sentence denotes Electrophoresis in sodium dodecyl sulfate-polyacrylamide of CB peptides (where CB represents cyanogen bromide) from type II collagen of the diseased cartilage showed a doublet band for peptide alpha 1(II)CB10 and evidence for post-translational overmodification of the major peptides (CB8, CB10, and CB11) seen as a retarded electrophoretic mobility.
T6 840-991 Sentence denotes Peptide CB10 was digested by endoproteinase Asp-N; and on reverse-phase high pressure liquid chromatography, fragments of abnormal mobility were noted.
T7 992-1133 Sentence denotes Sequence analysis of a unique peptide D12 revealed a single amino acid substitution (Gly-->Glu) at position 853 of the triple helical domain.
T8 1134-1278 Sentence denotes This was confirmed by sequence analysis of amplified COL2A1 cDNA, which revealed a single nucleotide substitution (GGA-->GAA) in 5 of 10 clones.
T9 1279-1498 Sentence denotes Electron micrographs of the diseased cartilage showed a sparse extracellular matrix and chondrocytes containing dilated rough endoplasmic reticulum, which suggested impaired assembly and secretion of the mutant protein.
T10 1499-1636 Sentence denotes This case further documents the molecular basis of the spondyloepiphyseal dysplasia spectrum of chondrodysplasias as mutations in COL2A1.

Glycosmos6-MAT

Id Subject Object Predicate Lexical cue
T1 159-163 http://purl.obolibrary.org/obo/MAT_0000299 denotes bone
T2 638-647 http://purl.obolibrary.org/obo/MAT_0000189 denotes cartilage
T3 1316-1325 http://purl.obolibrary.org/obo/MAT_0000189 denotes cartilage

PubmedHPO

Id Subject Object Predicate Lexical cue
T1 109-137 HP_0002655 denotes spondyloepiphyseal dysplasia
T2 225-253 HP_0002655 denotes spondyloepiphyseal dysplasia
T3 1554-1582 HP_0002655 denotes spondyloepiphyseal dysplasia

DisGeNET5_variant_disease

Id Subject Object Predicate Lexical cue
1429602-0#28#40#geners764943318 28-40 geners764943318 denotes Gly853-->Glu
1429602-0#85#103#diseaseC0542428 85-103 diseaseC0542428 denotes hypochondrogenesis
28#40#geners76494331885#103#diseaseC0542428 1429602-0#28#40#geners764943318 1429602-0#85#103#diseaseC0542428 associated_with Gly853-->Glu,hypochondrogenesis

DisGeNET5_gene_disease

Id Subject Object Predicate Lexical cue
1429602-0#49#75#gene1280 49-75 gene1280 denotes collagen alpha 1(II) chain
1429602-0#85#103#diseaseC0542428 85-103 diseaseC0542428 denotes hypochondrogenesis
1429602-9#130#136#gene1280 1629-1635 gene1280 denotes COL2A1
1429602-9#96#113#diseaseC0343284 1595-1612 diseaseC0343284 denotes chondrodysplasias
49#75#gene128085#103#diseaseC0542428 1429602-0#49#75#gene1280 1429602-0#85#103#diseaseC0542428 associated_with collagen alpha 1(II) chain,hypochondrogenesis
130#136#gene128096#113#diseaseC0343284 1429602-9#130#136#gene1280 1429602-9#96#113#diseaseC0343284 associated_with COL2A1,chondrodysplasias

PubCasesHPO

Id Subject Object Predicate Lexical cue
AB1 109-137 HP:0002655 denotes spondyloepiphyseal dysplasia
AB2 225-253 HP:0002655 denotes spondyloepiphyseal dysplasia
AB3 1554-1582 HP:0002655 denotes spondyloepiphyseal dysplasia

PubCasesORDO

Id Subject Object Predicate Lexical cue
AB1 184-199 ORDO:932 denotes achondrogenesis
AB2 225-263 ORDO:94068 denotes spondyloepiphyseal dysplasia congenita
AB3 884-887 ORDO:63442 denotes Asp

DisGeNET

Id Subject Object Predicate Lexical cue
T0 49-75 gene:1280 denotes collagen alpha 1(II) chain
T1 85-103 disease:C0542428 denotes hypochondrogenesis
T2 1629-1635 gene:1280 denotes COL2A1
T3 1595-1612 disease:C0343284 denotes chondrodysplasias
T4 1629-1635 gene:1280 denotes COL2A1
T5 1554-1582 disease:C2745959 denotes spondyloepiphyseal dysplasia
T6 1629-1635 gene:1280 denotes COL2A1
T7 1554-1582 disease:C0038015 denotes spondyloepiphyseal dysplasia
R1 T0 T1 associated_with collagen alpha 1(II) chain,hypochondrogenesis
R2 T2 T3 associated_with COL2A1,chondrodysplasias
R3 T4 T5 associated_with COL2A1,spondyloepiphyseal dysplasia
R4 T6 T7 associated_with COL2A1,spondyloepiphyseal dysplasia

Anatomy-MAT

Id Subject Object Predicate Lexical cue mat_id
T1 159-163 Body_part denotes bone http://purl.obolibrary.org/obo/MAT_0000299
T2 638-647 Body_part denotes cartilage http://purl.obolibrary.org/obo/MAT_0000189
T3 1316-1325 Body_part denotes cartilage http://purl.obolibrary.org/obo/MAT_0000189

mondo_disease

Id Subject Object Predicate Lexical cue mondo_id
T1 85-103 Disease denotes hypochondrogenesis http://purl.obolibrary.org/obo/MONDO_0008702|http://purl.obolibrary.org/obo/MONDO_0008703|http://purl.obolibrary.org/obo/MONDO_0019669
T4 109-137 Disease denotes spondyloepiphyseal dysplasia http://purl.obolibrary.org/obo/MONDO_0007738
T5 184-199 Disease denotes achondrogenesis http://purl.obolibrary.org/obo/MONDO_0019648
T6 201-219 Disease denotes hypochondrogenesis http://purl.obolibrary.org/obo/MONDO_0008702|http://purl.obolibrary.org/obo/MONDO_0008703|http://purl.obolibrary.org/obo/MONDO_0019669
T9 225-263 Disease denotes spondyloepiphyseal dysplasia congenita http://purl.obolibrary.org/obo/MONDO_0008471
T10 469-487 Disease denotes hypochondrogenesis http://purl.obolibrary.org/obo/MONDO_0008702|http://purl.obolibrary.org/obo/MONDO_0008703|http://purl.obolibrary.org/obo/MONDO_0019669
T13 1187-1193 Disease denotes COL2A1 http://purl.obolibrary.org/obo/MONDO_0022800
T14 1554-1582 Disease denotes spondyloepiphyseal dysplasia http://purl.obolibrary.org/obo/MONDO_0007738
T15 1595-1612 Disease denotes chondrodysplasias http://purl.obolibrary.org/obo/MONDO_0022723
T16 1629-1635 Disease denotes COL2A1 http://purl.obolibrary.org/obo/MONDO_0022800

Anatomy-UBERON

Id Subject Object Predicate Lexical cue uberon_id
T1 159-163 Body_part denotes bone http://purl.obolibrary.org/obo/UBERON_0001474|http://purl.obolibrary.org/obo/UBERON_0002481
T3 638-647 Body_part denotes cartilage http://purl.obolibrary.org/obo/UBERON_0002418|http://purl.obolibrary.org/obo/UBERON_0007844
T5 1316-1325 Body_part denotes cartilage http://purl.obolibrary.org/obo/UBERON_0002418|http://purl.obolibrary.org/obo/UBERON_0007844
T7 1342-1362 Body_part denotes extracellular matrix http://purl.obolibrary.org/obo/GO_0031012
T8 1367-1379 Body_part denotes chondrocytes http://purl.obolibrary.org/obo/CL_0000138
T9 1417-1426 Body_part denotes reticulum http://purl.obolibrary.org/obo/UBERON_0007361

HP-phenotype

Id Subject Object Predicate Lexical cue hp_id
T1 109-137 Phenotype denotes spondyloepiphyseal dysplasia HP:0002655
T2 225-253 Phenotype denotes spondyloepiphyseal dysplasia HP:0002655
T3 1554-1582 Phenotype denotes spondyloepiphyseal dysplasia HP:0002655

CL-cell

Id Subject Object Predicate Lexical cue cl_id
T1 665-669 Cell denotes band http://purl.obolibrary.org/obo/CL:0000560
T2 1030-1033 Cell denotes D12 http://purl.obolibrary.org/obo/CL:4030050
T3 1367-1379 Cell denotes chondrocytes http://purl.obolibrary.org/obo/CL:0000138