> top > docs > PubMed:9790667 > annotations

PubMed:9790667 JSONTXT

Annnotations TAB JSON ListView MergeView

NCBI-Disease-Corpus-GPT5-withguidelines

Id Subject Object Predicate Lexical cue
T1 269-299 SpecificDisease denotes cerebrotendinous xanthomatosis
T2 301-304 SpecificDisease denotes CTX
T3 438-486 SpecificDisease denotes deficiency in the sterol 27-hydroxylase activity
T4 1365-1413 SpecificDisease denotes deficiency in the sterol 27-hydroxylase activity

NCBI-Disease-Corpus-GPT5-noguidelines

Id Subject Object Predicate Lexical cue
T1 269-305 SpecificDisease denotes cerebrotendinous xanthomatosis (CTX)

NCBI-Disease-Corpus-GPT5-guidelineprompt

Id Subject Object Predicate Lexical cue
T1 269-299 SpecificDisease denotes cerebrotendinous xanthomatosis
T2 301-304 SpecificDisease denotes CTX

NCBI-Disease-Corpus-Moderated1

Id Subject Object Predicate Lexical cue
T1 269-299 SpecificDisease denotes cerebrotendinous xanthomatosis
T2 301-304 SpecificDisease denotes CTX
T3 438-486 DiseaseClass denotes deficiency in the sterol 27-hydroxylase activity
T4 1365-1413 DiseaseClass denotes deficiency in the sterol 27-hydroxylase activity

sentences

Id Subject Object Predicate Lexical cue
TextSentencer_T1 0-123 Sentence denotes A novel Arg362Ser mutation in the sterol 27-hydroxylase gene (CYP27): its effects on pre-mRNA splicing and enzyme activity.
TextSentencer_T2 124-306 Sentence denotes A novel C to A mutation in the sterol 27-hydroxylase gene (CYP27) was identified by sequencing amplified CYP27 gene products from a patient with cerebrotendinous xanthomatosis (CTX).
TextSentencer_T3 307-547 Sentence denotes The mutation changed the adrenodoxin cofactor binding residue 362Arg to 362Ser (CGT 362Arg to AGT 362Ser), and was responsible for deficiency in the sterol 27-hydroxylase activity, as confirmed by expression of mutant cDNA into COS-1 cells.
TextSentencer_T4 548-669 Sentence denotes Quantitative analysis showed that the expression of CYP27 gene mRNA in the patient represented 52.5% of the normal level.
TextSentencer_T5 670-985 Sentence denotes As the mutation occurred at the penultimate nucleotide of exon 6 (-2 position of exon 6-intron 6 splice site) of the gene, we hypothesized that the mutation may partially affect the normal splicing efficiency in exon 6 and cause alternative splicing elsewhere, which resulted in decreased transcript in the patient.
TextSentencer_T6 986-1244 Sentence denotes Transfection of constructed minigenes, with or without the mutation, into COS-1 cells confirmed that the mutant minigene was responsible for a mRNA species alternatively spliced at an activated cryptic 5' splice site 88 bp upstream from the 3' end of exon 6.
TextSentencer_T7 1245-1485 Sentence denotes Our data suggest that the C to A mutation at the penultimate nucleotide of exon 6 of the CYP27 gene not only causes the deficiency in the sterol 27-hydroxylase activity, but also partially leads to alternative pre-mRNA splicing of the gene.
TextSentencer_T8 1486-1621 Sentence denotes To our knowledge, this is the first report regarding effects on pre-mRNA splicing of a mutation at the -2 position of a 5' splice site.
T1 0-123 Sentence denotes A novel Arg362Ser mutation in the sterol 27-hydroxylase gene (CYP27): its effects on pre-mRNA splicing and enzyme activity.
T2 124-306 Sentence denotes A novel C to A mutation in the sterol 27-hydroxylase gene (CYP27) was identified by sequencing amplified CYP27 gene products from a patient with cerebrotendinous xanthomatosis (CTX).
T3 307-547 Sentence denotes The mutation changed the adrenodoxin cofactor binding residue 362Arg to 362Ser (CGT 362Arg to AGT 362Ser), and was responsible for deficiency in the sterol 27-hydroxylase activity, as confirmed by expression of mutant cDNA into COS-1 cells.
T4 548-669 Sentence denotes Quantitative analysis showed that the expression of CYP27 gene mRNA in the patient represented 52.5% of the normal level.
T5 670-985 Sentence denotes As the mutation occurred at the penultimate nucleotide of exon 6 (-2 position of exon 6-intron 6 splice site) of the gene, we hypothesized that the mutation may partially affect the normal splicing efficiency in exon 6 and cause alternative splicing elsewhere, which resulted in decreased transcript in the patient.
T6 986-1244 Sentence denotes Transfection of constructed minigenes, with or without the mutation, into COS-1 cells confirmed that the mutant minigene was responsible for a mRNA species alternatively spliced at an activated cryptic 5' splice site 88 bp upstream from the 3' end of exon 6.
T7 1245-1485 Sentence denotes Our data suggest that the C to A mutation at the penultimate nucleotide of exon 6 of the CYP27 gene not only causes the deficiency in the sterol 27-hydroxylase activity, but also partially leads to alternative pre-mRNA splicing of the gene.
T8 1486-1621 Sentence denotes To our knowledge, this is the first report regarding effects on pre-mRNA splicing of a mutation at the -2 position of a 5' splice site.

DisGeNET

Id Subject Object Predicate Lexical cue
T0 155-176 gene:1593 denotes sterol 27-hydroxylase
T1 269-299 disease:C0238052 denotes cerebrotendinous xanthomatosis
T2 155-176 gene:1593 denotes sterol 27-hydroxylase
T3 301-304 disease:C0238052 denotes CTX
T4 183-188 gene:1593 denotes CYP27
T5 269-299 disease:C0238052 denotes cerebrotendinous xanthomatosis
T6 183-188 gene:1593 denotes CYP27
T7 301-304 disease:C0238052 denotes CTX
T8 229-234 gene:1593 denotes CYP27
T9 269-299 disease:C0238052 denotes cerebrotendinous xanthomatosis
T10 229-234 gene:1593 denotes CYP27
T11 301-304 disease:C0238052 denotes CTX
R1 T0 T1 associated_with sterol 27-hydroxylase,cerebrotendinous xanthomatosis
R2 T2 T3 associated_with sterol 27-hydroxylase,CTX
R3 T4 T5 associated_with CYP27,cerebrotendinous xanthomatosis
R4 T6 T7 associated_with CYP27,CTX
R5 T8 T9 associated_with CYP27,cerebrotendinous xanthomatosis
R6 T10 T11 associated_with CYP27,CTX

DisGeNET5_gene_disease

Id Subject Object Predicate Lexical cue
9790667-1#31#52#gene1593 155-176 gene1593 denotes sterol 27-hydroxylase
9790667-1#59#64#gene1593 183-188 gene1593 denotes CYP27
9790667-1#105#110#gene1593 229-234 gene1593 denotes CYP27
9790667-1#145#175#diseaseC0238052 269-299 diseaseC0238052 denotes cerebrotendinous xanthomatosis
9790667-1#177#180#diseaseC0238052 301-304 diseaseC0238052 denotes CTX
9790667-1#145#175#diseaseC0238052 269-299 diseaseC0238052 denotes cerebrotendinous xanthomatosis
9790667-1#177#180#diseaseC0238052 301-304 diseaseC0238052 denotes CTX
9790667-1#145#175#diseaseC0238052 269-299 diseaseC0238052 denotes cerebrotendinous xanthomatosis
9790667-1#177#180#diseaseC0238052 301-304 diseaseC0238052 denotes CTX
31#52#gene1593145#175#diseaseC0238052 9790667-1#31#52#gene1593 9790667-1#145#175#diseaseC0238052 associated_with sterol 27-hydroxylase,cerebrotendinous xanthomatosis
31#52#gene1593177#180#diseaseC0238052 9790667-1#31#52#gene1593 9790667-1#177#180#diseaseC0238052 associated_with sterol 27-hydroxylase,CTX
31#52#gene1593145#175#diseaseC0238052 9790667-1#31#52#gene1593 9790667-1#145#175#diseaseC0238052 associated_with sterol 27-hydroxylase,cerebrotendinous xanthomatosis
31#52#gene1593177#180#diseaseC0238052 9790667-1#31#52#gene1593 9790667-1#177#180#diseaseC0238052 associated_with sterol 27-hydroxylase,CTX
31#52#gene1593145#175#diseaseC0238052 9790667-1#31#52#gene1593 9790667-1#145#175#diseaseC0238052 associated_with sterol 27-hydroxylase,cerebrotendinous xanthomatosis
31#52#gene1593177#180#diseaseC0238052 9790667-1#31#52#gene1593 9790667-1#177#180#diseaseC0238052 associated_with sterol 27-hydroxylase,CTX
59#64#gene1593145#175#diseaseC0238052 9790667-1#59#64#gene1593 9790667-1#145#175#diseaseC0238052 associated_with CYP27,cerebrotendinous xanthomatosis
59#64#gene1593177#180#diseaseC0238052 9790667-1#59#64#gene1593 9790667-1#177#180#diseaseC0238052 associated_with CYP27,CTX
59#64#gene1593145#175#diseaseC0238052 9790667-1#59#64#gene1593 9790667-1#145#175#diseaseC0238052 associated_with CYP27,cerebrotendinous xanthomatosis
59#64#gene1593177#180#diseaseC0238052 9790667-1#59#64#gene1593 9790667-1#177#180#diseaseC0238052 associated_with CYP27,CTX
59#64#gene1593145#175#diseaseC0238052 9790667-1#59#64#gene1593 9790667-1#145#175#diseaseC0238052 associated_with CYP27,cerebrotendinous xanthomatosis
59#64#gene1593177#180#diseaseC0238052 9790667-1#59#64#gene1593 9790667-1#177#180#diseaseC0238052 associated_with CYP27,CTX
105#110#gene1593145#175#diseaseC0238052 9790667-1#105#110#gene1593 9790667-1#145#175#diseaseC0238052 associated_with CYP27,cerebrotendinous xanthomatosis
105#110#gene1593177#180#diseaseC0238052 9790667-1#105#110#gene1593 9790667-1#177#180#diseaseC0238052 associated_with CYP27,CTX
105#110#gene1593145#175#diseaseC0238052 9790667-1#105#110#gene1593 9790667-1#145#175#diseaseC0238052 associated_with CYP27,cerebrotendinous xanthomatosis
105#110#gene1593177#180#diseaseC0238052 9790667-1#105#110#gene1593 9790667-1#177#180#diseaseC0238052 associated_with CYP27,CTX
105#110#gene1593145#175#diseaseC0238052 9790667-1#105#110#gene1593 9790667-1#145#175#diseaseC0238052 associated_with CYP27,cerebrotendinous xanthomatosis
105#110#gene1593177#180#diseaseC0238052 9790667-1#105#110#gene1593 9790667-1#177#180#diseaseC0238052 associated_with CYP27,CTX

PubCasesHPO

Id Subject Object Predicate Lexical cue
AB1 286-299 HP:0000991 denotes xanthomatosis

PubCasesORDO

Id Subject Object Predicate Lexical cue
AB1 269-299 ORDO:909 denotes cerebrotendinous xanthomatosis
AB2 301-304 ORDO:909 denotes CTX

NCBIDiseaseCorpus

Id Subject Object Predicate Lexical cue
T1 269-299 SpecificDisease:D019294 denotes cerebrotendinous xanthomatosis
T2 301-304 SpecificDisease:D019294 denotes CTX
T3 1365-1413 SpecificDisease:D019294 denotes deficiency in the sterol 27-hydroxylase activity

NCBI-Disease-Test

Id Subject Object Predicate Lexical cue database_id
T178 269-299 SpecificDisease denotes cerebrotendinous xanthomatosis D019294
T179 301-304 SpecificDisease denotes CTX D019294
T180 1365-1413 SpecificDisease denotes deficiency in the sterol 27-hydroxylase activity D019294

NCBI-Disease-Test-Assistant-Knowledge

Id Subject Object Predicate Lexical cue
T1 269-305 SpecificDisease denotes cerebrotendinous xanthomatosis (CTX)
T2 456-486 SpecificDisease denotes sterol 27-hydroxylase activity
T3 1383-1413 SpecificDisease denotes sterol 27-hydroxylase activity

NCBI-Disease-Test-4o-NoGuidelineInPrompt

Id Subject Object Predicate Lexical cue
T1 269-299 SpecificDisease denotes cerebrotendinous xanthomatosis
T2 301-304 CompositeMention denotes CTX
T3 456-477 Modifier denotes sterol 27-hydroxylase
T4 1383-1404 Modifier denotes sterol 27-hydroxylase

NCBI-Disease-Corpus-o3-2

Id Subject Object Predicate Lexical cue
T1 269-299 SpecificDisease denotes cerebrotendinous xanthomatosis
T2 301-304 SpecificDisease denotes CTX

NCBI-Disease-Corpus-high-o3-1

Id Subject Object Predicate Lexical cue
T1 269-299 SpecificDisease denotes cerebrotendinous xanthomatosis
T2 301-304 SpecificDisease denotes CTX

NCBI-Disease-Corpus-high-o3-2

Id Subject Object Predicate Lexical cue
T1 269-299 SpecificDisease denotes cerebrotendinous xanthomatosis
T2 301-304 SpecificDisease denotes CTX

NCBI-Disease-Test-4o-GuidelineInPrompt

Id Subject Object Predicate Lexical cue
T1 269-299 SpecificDisease denotes cerebrotendinous xanthomatosis

NCBI-Disease-Corpus-UpdatedGuideline

Id Subject Object Predicate Lexical cue
T1 269-299 SpecificDisease denotes cerebrotendinous xanthomatosis

NCBI-Disease-Corpus-humanintheloop

Id Subject Object Predicate Lexical cue
T1 269-299 SpecificDisease denotes cerebrotendinous xanthomatosis
T2 301-304 SpecificDisease denotes CTX
T3 456-477 Modifier denotes sterol 27-hydroxylase
T4 1383-1404 Modifier denotes sterol 27-hydroxylase

NCBI-Disease-Corpus-rezarta1

Id Subject Object Predicate Lexical cue
T1 269-299 SpecificDisease denotes cerebrotendinous xanthomatosis
T2 301-304 SpecificDisease denotes CTX

NCBI-Disease-Corpus-All

Id Subject Object Predicate Lexical cue database_id
T178 269-299 SpecificDisease denotes cerebrotendinous xanthomatosis D019294
T179 301-304 SpecificDisease denotes CTX D019294
T180 1365-1413 SpecificDisease denotes deficiency in the sterol 27-hydroxylase activity D019294

NCBI-Disease-Corpus-2stage-All

Id Subject Object Predicate Lexical cue
T1 269-299 SpecificDisease denotes cerebrotendinous xanthomatosis
T2 301-304 SpecificDisease denotes CTX

NCBI-Disease-Corpus-rezarta-All

Id Subject Object Predicate Lexical cue
T1 269-299 SpecificDisease denotes cerebrotendinous xanthomatosis

NCBI-Disease-Corpus-4oGuideline-All

Id Subject Object Predicate Lexical cue
T1 269-299 SpecificDisease denotes cerebrotendinous xanthomatosis

NCBI-Disease-Corpus-Simple-All

Id Subject Object Predicate Lexical cue
T1 269-305 SpecificDisease denotes cerebrotendinous xanthomatosis (CTX)

123456

Id Subject Object Predicate Lexical cue
T1 269-299 SpecificDisease denotes cerebrotendinous xanthomatosis
T2 301-304 SpecificDisease denotes CTX
T3 456-477 Modifier denotes sterol 27-hydroxylase
T4 1383-1404 Modifier denotes sterol 27-hydroxylase

12345

Id Subject Object Predicate Lexical cue
T1 269-299 SpecificDisease denotes cerebrotendinous xanthomatosis
T2 301-304 SpecificDisease denotes CTX
T3 456-477 Modifier denotes sterol 27-hydroxylase
T4 1383-1404 Modifier denotes sterol 27-hydroxylase