> top > docs > PubMed:7693712 > annotations

PubMed:7693712 JSONTXT

Annnotations TAB JSON ListView MergeView

PubTator4TogoVar

Id Subject Object Predicate Lexical cue proteinmutation
7693712_0 1387-1402 ProteinMutation denotes Gly676-->valine rs66883877

sentences

Id Subject Object Predicate Lexical cue
TextSentencer_T1 0-112 Sentence denotes Two additional cases of osteogenesis imperfecta with substitutions for glycine in the alpha 2(I) collagen chain.
TextSentencer_T2 113-172 Sentence denotes A regional model relating mutation location with phenotype.
TextSentencer_T3 173-395 Sentence denotes The relationship between the clinical severity of osteogenesis imperfecta (OI) and the location and type of amino acid substitution in type I collagen is not identical for mutations in the alpha 1(I) and alpha 2(I) chains.
TextSentencer_T4 396-566 Sentence denotes Furthermore, the alpha 2(I) chain, once thought to be associated with moderate forms of OI, has now been associated with approximately as many lethal as non-lethal cases.
TextSentencer_T5 567-739 Sentence denotes We describe two novel substitutions for glycine in the alpha 2(I) chain, one associated with a lethal phenotype in twins and the other with a moderate non-lethal phenotype.
TextSentencer_T6 740-892 Sentence denotes The type I collagen of all probands was characterized electrophoretically by two populations of alpha chains, one normal and one with delayed migration.
TextSentencer_T7 893-1011 Sentence denotes Cyanogen bromide peptides of the overmodified alpha 1(I) chains revealed delayed migration of all peptides except CB6.
TextSentencer_T8 1012-1153 Sentence denotes The indicated target region of alpha 1(I) and alpha 2(I) cDNA of the probands was analyzed by RNA-DNA hybrid analysis with RNase A digestion.
TextSentencer_T9 1154-1241 Sentence denotes All probands had mismatches in the region of alpha 2(I) coding for amino acids 642-912.
TextSentencer_T10 1242-1403 Sentence denotes The lethal phenotype was associated with a G-->A mutation, resulting in Gly706-->serine; the non-lethal mutation was a G-->T change resulting in Gly676-->valine.
TextSentencer_T11 1404-1487 Sentence denotes Both mutations occurred de novo in the probands; parental leukocyte DNA was normal.
TextSentencer_T12 1488-1743 Sentence denotes In conjunction with the previously described exon deletions and point mutations in alpha 2(I), these mutations define five alternating non-lethal/lethal regions along the chain and support a regional, as opposed to a gradient, model of OI pathophysiology.
TextSentencer_T13 1744-1853 Sentence denotes These mutations in particular help to define a lethal/non-lethal junction at about alpha 2(I) amino acid 700.
T1 0-112 Sentence denotes Two additional cases of osteogenesis imperfecta with substitutions for glycine in the alpha 2(I) collagen chain.
T2 113-172 Sentence denotes A regional model relating mutation location with phenotype.
T3 173-395 Sentence denotes The relationship between the clinical severity of osteogenesis imperfecta (OI) and the location and type of amino acid substitution in type I collagen is not identical for mutations in the alpha 1(I) and alpha 2(I) chains.
T4 396-566 Sentence denotes Furthermore, the alpha 2(I) chain, once thought to be associated with moderate forms of OI, has now been associated with approximately as many lethal as non-lethal cases.
T5 567-739 Sentence denotes We describe two novel substitutions for glycine in the alpha 2(I) chain, one associated with a lethal phenotype in twins and the other with a moderate non-lethal phenotype.
T6 740-892 Sentence denotes The type I collagen of all probands was characterized electrophoretically by two populations of alpha chains, one normal and one with delayed migration.
T7 893-1011 Sentence denotes Cyanogen bromide peptides of the overmodified alpha 1(I) chains revealed delayed migration of all peptides except CB6.
T8 1012-1153 Sentence denotes The indicated target region of alpha 1(I) and alpha 2(I) cDNA of the probands was analyzed by RNA-DNA hybrid analysis with RNase A digestion.
T9 1154-1241 Sentence denotes All probands had mismatches in the region of alpha 2(I) coding for amino acids 642-912.
T10 1242-1403 Sentence denotes The lethal phenotype was associated with a G-->A mutation, resulting in Gly706-->serine; the non-lethal mutation was a G-->T change resulting in Gly676-->valine.
T11 1404-1487 Sentence denotes Both mutations occurred de novo in the probands; parental leukocyte DNA was normal.
T12 1488-1743 Sentence denotes In conjunction with the previously described exon deletions and point mutations in alpha 2(I), these mutations define five alternating non-lethal/lethal regions along the chain and support a regional, as opposed to a gradient, model of OI pathophysiology.
T13 1744-1853 Sentence denotes These mutations in particular help to define a lethal/non-lethal junction at about alpha 2(I) amino acid 700.

DisGeNET

Id Subject Object Predicate Lexical cue
T0 86-105 gene:1278 denotes alpha 2(I) collagen
T1 24-47 disease:C0029434 denotes osteogenesis imperfecta
T2 362-369 gene:146 denotes alpha 1
T3 248-250 disease:C0029434 denotes OI
T4 362-369 gene:146 denotes alpha 1
T5 223-246 disease:C0029434 denotes osteogenesis imperfecta
R1 T0 T1 associated_with alpha 2(I) collagen,osteogenesis imperfecta
R2 T2 T3 associated_with alpha 1,OI
R3 T4 T5 associated_with alpha 1,osteogenesis imperfecta

DisGeNET5_gene_disease

Id Subject Object Predicate Lexical cue
7693712-0#86#105#gene1278 86-105 gene1278 denotes alpha 2(I) collagen
7693712-0#24#47#diseaseC0029434 24-47 diseaseC0029434 denotes osteogenesis imperfecta
86#105#gene127824#47#diseaseC0029434 7693712-0#86#105#gene1278 7693712-0#24#47#diseaseC0029434 associated_with alpha 2(I) collagen,osteogenesis imperfecta

PubCasesORDO

Id Subject Object Predicate Lexical cue
TI1 24-47 ORDO:666 denotes osteogenesis imperfecta
AB1 223-246 ORDO:666 denotes osteogenesis imperfecta

mondo_disease

Id Subject Object Predicate Lexical cue mondo_id
T1 24-47 Disease denotes osteogenesis imperfecta http://purl.obolibrary.org/obo/MONDO_0019019
T2 211-246 Disease denotes severity of osteogenesis imperfecta http://purl.obolibrary.org/obo/MONDO_0009804
T3 248-250 Disease denotes OI http://purl.obolibrary.org/obo/MONDO_0019019
T4 484-486 Disease denotes OI http://purl.obolibrary.org/obo/MONDO_0019019
T5 1724-1726 Disease denotes OI http://purl.obolibrary.org/obo/MONDO_0019019

NCBITAXON

Id Subject Object Predicate Lexical cue db_id
T1 71-78 OrganismTaxon denotes glycine 3846
T2 607-614 OrganismTaxon denotes glycine 3846

Anatomy-UBERON

Id Subject Object Predicate Lexical cue uberon_id
T1 1462-1471 Body_part denotes leukocyte http://purl.obolibrary.org/obo/CL_0000738
T2 1809-1817 Body_part denotes junction http://purl.obolibrary.org/obo/UBERON_0007651

CL-cell

Id Subject Object Predicate Lexical cue cl_id
T1 308-314 Cell denotes type I http://purl.obolibrary.org/obo/CL:0004120|http://purl.obolibrary.org/obo/CL:0004138
T3 744-750 Cell denotes type I http://purl.obolibrary.org/obo/CL:0004120|http://purl.obolibrary.org/obo/CL:0004138
T5 1462-1471 Cell denotes leukocyte http://purl.obolibrary.org/obo/CL:0000738