> top > docs > PubMed:2793865 > annotations

PubMed:2793865 JSONTXT

Annnotations TAB JSON ListView MergeView

sentences

Id Subject Object Predicate Lexical cue
T1 0-106 Sentence denotes Point mutation affecting processing of the ornithine aminotransferase precursor protein in gyrate atrophy.
T2 107-338 Sentence denotes A generalized deficiency of the mitochondrial enzyme, ornithine aminotransferase (OAT) is the inborn error in gyrate atrophy, an autosomal recessive degenerative disease of the choroid and retina of the eye that leads to blindness.
T3 339-528 Sentence denotes Southern analysis, using the OAT cDNA probe, of the OAT gene in a gyrate atrophy patient whose level of OAT protein is markedly decreased indicated the functional gene to be grossly intact.
T4 529-688 Sentence denotes Northern analysis of his OAT mRNA demonstrated only half the normal level of OAT message, suggesting expression of only one of the two alleles of the OAT gene.
T5 689-866 Sentence denotes A functional assay of the expressed OAT mRNA by in vitro translation and immunoprecipitation with anti-human OAT antibody indicated synthesis of an OAT protein from the message.
T6 867-1098 Sentence denotes The expressed message was cloned and sequenced and was shown to contain a single base change from C to T, resulting in an amino acid codon change from CAT (histidine) to TAT (tyrosine) at position 319 in the translated OAT protein.
T7 1099-1315 Sentence denotes The mutant and normal OAT precursors were synthesized using transcriptional expression clones of OAT and in vitro translation of the expressed mRNA and tested in an in vitro mitochondrial transport/processing system.
T8 1316-1580 Sentence denotes The results indicate that the mutant OAT precursor from the gyrate atrophy patient can be transported to the mitochondria but is minimally processed there, which would lead to degradation of the labile precursor and loss of OAT activity as phenotypically observed.
T1 0-106 Sentence denotes Point mutation affecting processing of the ornithine aminotransferase precursor protein in gyrate atrophy.
T2 107-338 Sentence denotes A generalized deficiency of the mitochondrial enzyme, ornithine aminotransferase (OAT) is the inborn error in gyrate atrophy, an autosomal recessive degenerative disease of the choroid and retina of the eye that leads to blindness.
T3 339-528 Sentence denotes Southern analysis, using the OAT cDNA probe, of the OAT gene in a gyrate atrophy patient whose level of OAT protein is markedly decreased indicated the functional gene to be grossly intact.
T4 529-688 Sentence denotes Northern analysis of his OAT mRNA demonstrated only half the normal level of OAT message, suggesting expression of only one of the two alleles of the OAT gene.
T5 689-866 Sentence denotes A functional assay of the expressed OAT mRNA by in vitro translation and immunoprecipitation with anti-human OAT antibody indicated synthesis of an OAT protein from the message.
T6 867-1098 Sentence denotes The expressed message was cloned and sequenced and was shown to contain a single base change from C to T, resulting in an amino acid codon change from CAT (histidine) to TAT (tyrosine) at position 319 in the translated OAT protein.
T7 1099-1315 Sentence denotes The mutant and normal OAT precursors were synthesized using transcriptional expression clones of OAT and in vitro translation of the expressed mRNA and tested in an in vitro mitochondrial transport/processing system.
T8 1316-1580 Sentence denotes The results indicate that the mutant OAT precursor from the gyrate atrophy patient can be transported to the mitochondria but is minimally processed there, which would lead to degradation of the labile precursor and loss of OAT activity as phenotypically observed.

Glycosmos6-MAT

Id Subject Object Predicate Lexical cue
T1 296-302 http://purl.obolibrary.org/obo/MAT_0000142 denotes retina
T2 310-313 http://purl.obolibrary.org/obo/MAT_0000140 denotes eye

DisGeNET

Id Subject Object Predicate Lexical cue
T0 443-446 gene:4942 denotes OAT
T1 405-419 disease:C0018425 denotes gyrate atrophy
T2 1353-1356 gene:4942 denotes OAT
T3 1376-1390 disease:C0018425 denotes gyrate atrophy
T4 1540-1543 gene:4942 denotes OAT
T5 1376-1390 disease:C0018425 denotes gyrate atrophy
R1 T0 T1 associated_with OAT,gyrate atrophy
R2 T2 T3 associated_with OAT,gyrate atrophy
R3 T4 T5 associated_with OAT,gyrate atrophy

PubmedHPO

Id Subject Object Predicate Lexical cue
T1 139-152 HP_0001427 denotes mitochondrial
T2 236-255 HP_0000007 denotes autosomal recessive
T3 328-337 HP_0000618 denotes blindness
T4 1273-1286 HP_0001427 denotes mitochondrial

DisGeNET5_gene_disease

Id Subject Object Predicate Lexical cue
2793865-0#43#79#gene4942 43-79 gene4942 denotes ornithine aminotransferase precursor
2793865-0#91#105#diseaseC0018425 91-105 diseaseC0018425 denotes gyrate atrophy
2793865-1#82#85#gene4942 189-192 gene4942 denotes OAT
2793865-1#149#169#diseaseC1285162 256-276 diseaseC1285162 denotes degenerative disease
43#79#gene494291#105#diseaseC0018425 2793865-0#43#79#gene4942 2793865-0#91#105#diseaseC0018425 associated_with ornithine aminotransferase precursor,gyrate atrophy
82#85#gene4942149#169#diseaseC1285162 2793865-1#82#85#gene4942 2793865-1#149#169#diseaseC1285162 associated_with OAT,degenerative disease

PubCasesHPO

Id Subject Object Predicate Lexical cue
AB1 328-337 HP:0000618 denotes blindness

mondo_disease

Id Subject Object Predicate Lexical cue mondo_id
T1 91-105 Disease denotes gyrate atrophy http://purl.obolibrary.org/obo/MONDO_0009796
T2 189-192 Disease denotes OAT http://purl.obolibrary.org/obo/MONDO_0004483
T3 217-231 Disease denotes gyrate atrophy http://purl.obolibrary.org/obo/MONDO_0009796
T4 256-276 Disease denotes degenerative disease http://purl.obolibrary.org/obo/MONDO_0005559|http://purl.obolibrary.org/obo/MONDO_0024236
T6 328-337 Disease denotes blindness http://purl.obolibrary.org/obo/MONDO_0001941
T7 368-371 Disease denotes OAT http://purl.obolibrary.org/obo/MONDO_0004483
T8 391-394 Disease denotes OAT http://purl.obolibrary.org/obo/MONDO_0004483
T9 405-419 Disease denotes gyrate atrophy http://purl.obolibrary.org/obo/MONDO_0009796
T10 443-446 Disease denotes OAT http://purl.obolibrary.org/obo/MONDO_0004483
T11 554-557 Disease denotes OAT http://purl.obolibrary.org/obo/MONDO_0004483
T12 606-609 Disease denotes OAT http://purl.obolibrary.org/obo/MONDO_0004483
T13 679-682 Disease denotes OAT http://purl.obolibrary.org/obo/MONDO_0004483
T14 725-728 Disease denotes OAT http://purl.obolibrary.org/obo/MONDO_0004483
T15 798-801 Disease denotes OAT http://purl.obolibrary.org/obo/MONDO_0004483
T16 837-840 Disease denotes OAT http://purl.obolibrary.org/obo/MONDO_0004483
T17 1086-1089 Disease denotes OAT http://purl.obolibrary.org/obo/MONDO_0004483
T18 1121-1124 Disease denotes OAT http://purl.obolibrary.org/obo/MONDO_0004483
T19 1196-1199 Disease denotes OAT http://purl.obolibrary.org/obo/MONDO_0004483
T20 1353-1356 Disease denotes OAT http://purl.obolibrary.org/obo/MONDO_0004483
T21 1376-1390 Disease denotes gyrate atrophy http://purl.obolibrary.org/obo/MONDO_0009796
T22 1540-1543 Disease denotes OAT http://purl.obolibrary.org/obo/MONDO_0004483

HP-phenotype

Id Subject Object Predicate Lexical cue hp_id
T1 328-337 Phenotype denotes blindness HP:0000618

NCBITAXON

Id Subject Object Predicate Lexical cue db_id
T1 420-427 OrganismTaxon denotes patient 9606
T2 792-797 OrganismTaxon denotes human 9606
T3 1391-1398 OrganismTaxon denotes patient 9606

Anatomy-UBERON

Id Subject Object Predicate Lexical cue uberon_id
T1 284-302 Body_part denotes choroid and retina http://purl.obolibrary.org/obo/UBERON_0019207
T2 310-313 Body_part denotes eye http://purl.obolibrary.org/obo/UBERON_0000019|http://purl.obolibrary.org/obo/UBERON_0000970|http://purl.obolibrary.org/obo/UBERON_0010230

Anatomy-MAT

Id Subject Object Predicate Lexical cue mat_id
T1 296-302 Body_part denotes retina http://purl.obolibrary.org/obo/MAT_0000142
T2 310-313 Body_part denotes eye http://purl.obolibrary.org/obo/MAT_0000140