> top > docs > PubMed:11558822 > annotations

PubMed:11558822 JSONTXT

Annnotations TAB JSON ListView MergeView

PubTator4TogoVar

Id Subject Object Predicate Lexical cue proteinmutation
11558822_0 725-762 ProteinMutation denotes C/T transition in codon 355 (CGA>TGA) rs72549381

FSU-PRGE

Id Subject Object Predicate Lexical cue
T1 104-109 protein denotes GLC3A
T2 111-117 protein denotes CYP1B1
T3 283-303 protein denotes cytochrome P 450 1B1
T4 305-311 protein denotes CYP1B1
T5 1188-1194 protein denotes CYP1B1

PIR-corpus2

Id Subject Object Predicate Lexical cue
T1 104-109 protein denotes GLC3A
T2 111-117 protein denotes CYP1B1
T3 283-312 protein denotes cytochrome P 450 1B1 (CYP1B1)
T4 1188-1194 protein denotes CYP1B1

DisGeNET5_gene_disease

Id Subject Object Predicate Lexical cue
11558822-1#171#177#gene1545 305-311 gene1545 denotes CYP1B1
11558822-1#32#51#diseaseC0020302 166-185 diseaseC0020302 denotes congenital glaucoma
171#177#gene154532#51#diseaseC0020302 11558822-1#171#177#gene1545 11558822-1#32#51#diseaseC0020302 associated_with CYP1B1,congenital glaucoma

performance-test

Id Subject Object Predicate Lexical cue
PD-UBERON-AE-B_T1 414-420 http://purl.obolibrary.org/obo/UBERON_0000964 denotes cornea
PD-UBERON-AE-B_T2 698-704 http://purl.obolibrary.org/obo/UBERON_0000964 denotes cornea
PD-UBERON-AE-B_T3 425-435 http://purl.obolibrary.org/obo/UBERON_0001783 denotes optic disc
PD-UBERON-AE-B_T4 586-591 http://purl.obolibrary.org/obo/UBERON_0000178 denotes blood

PubCasesHPO

Id Subject Object Predicate Lexical cue
TI1 0-27 HP:0008007 denotes Primary congenital glaucoma
AB1 166-185 HP:0001087 denotes congenital glaucoma
AB2 672-683 HP:0000557 denotes buphthalmos
AB3 1209-1228 HP:0001087 denotes congenital glaucoma

sentences

Id Subject Object Predicate Lexical cue
TextSentencer_T1 0-124 Sentence denotes Primary congenital glaucoma: three case reports on novel mutations and combinations of mutations in the GLC3A (CYP1B1) gene.
TextSentencer_T2 125-133 Sentence denotes PURPOSE:
TextSentencer_T3 134-318 Sentence denotes To describe three patients with congenital glaucoma homozygous and compound heterozygous for different mutations and benign sequence variants in the cytochrome P 450 1B1 (CYP1B1) gene.
TextSentencer_T4 319-327 Sentence denotes METHODS:
TextSentencer_T5 328-513 Sentence denotes All patients were examined by slit-lamp biomicroscopy, gonioscopy, measurement of the cornea and optic disc, ultrasound biometry, and automated static threshold perimetry when possible.
TextSentencer_T6 514-628 Sentence denotes Direct sequence analysis was performed on DNA extracted from peripheral blood from the patients and their parents.
TextSentencer_T7 629-637 Sentence denotes RESULTS:
TextSentencer_T8 638-847 Sentence denotes For patient 1, a newborn boy with buphthalmos and an opaque cornea, a novel homozygous C/T transition in codon 355 (CGA>TGA) led to a predicted nonsense codon Arg355X truncating the protein by 188 amino acids.
TextSentencer_T9 848-951 Sentence denotes For patient 2, a 24-year-old man, a compound heterozygous mutation 1410-1422del/1546-1555dup was found.
TextSentencer_T10 952-1135 Sentence denotes For patient 3, a 34-year-old man, two novel heterozygous missense mutations resulting in an Ala443Gly and a Glu229Lys amino acid exchange and five benign sequence variants were found.
TextSentencer_T11 1136-1147 Sentence denotes CONCLUSION:
TextSentencer_T12 1148-1229 Sentence denotes Our results confirm the crucial role of CYP1B1 mutations for congenital glaucoma.
T1 0-124 Sentence denotes Primary congenital glaucoma: three case reports on novel mutations and combinations of mutations in the GLC3A (CYP1B1) gene.
T2 125-133 Sentence denotes PURPOSE:
T3 134-318 Sentence denotes To describe three patients with congenital glaucoma homozygous and compound heterozygous for different mutations and benign sequence variants in the cytochrome P 450 1B1 (CYP1B1) gene.
T4 319-327 Sentence denotes METHODS:
T5 328-513 Sentence denotes All patients were examined by slit-lamp biomicroscopy, gonioscopy, measurement of the cornea and optic disc, ultrasound biometry, and automated static threshold perimetry when possible.
T6 514-628 Sentence denotes Direct sequence analysis was performed on DNA extracted from peripheral blood from the patients and their parents.
T7 629-637 Sentence denotes RESULTS:
T8 638-847 Sentence denotes For patient 1, a newborn boy with buphthalmos and an opaque cornea, a novel homozygous C/T transition in codon 355 (CGA>TGA) led to a predicted nonsense codon Arg355X truncating the protein by 188 amino acids.
T9 848-951 Sentence denotes For patient 2, a 24-year-old man, a compound heterozygous mutation 1410-1422del/1546-1555dup was found.
T10 952-1135 Sentence denotes For patient 3, a 34-year-old man, two novel heterozygous missense mutations resulting in an Ala443Gly and a Glu229Lys amino acid exchange and five benign sequence variants were found.
T11 1136-1147 Sentence denotes CONCLUSION:
T12 1148-1229 Sentence denotes Our results confirm the crucial role of CYP1B1 mutations for congenital glaucoma.

UBERON-AE

Id Subject Object Predicate Lexical cue
PD-UBERON-AE-B_T1 414-420 http://purl.obolibrary.org/obo/UBERON_0000964 denotes cornea
PD-UBERON-AE-B_T2 698-704 http://purl.obolibrary.org/obo/UBERON_0000964 denotes cornea
PD-UBERON-AE-B_T3 425-435 http://purl.obolibrary.org/obo/UBERON_0001783 denotes optic disc
PD-UBERON-AE-B_T4 586-591 http://purl.obolibrary.org/obo/UBERON_0000178 denotes blood

PubCasesORDO

Id Subject Object Predicate Lexical cue
TI1 0-27 ORDO:98976 denotes Primary congenital glaucoma
AB1 166-185 ORDO:98976 denotes congenital glaucoma
AB2 672-683 ORDO:98976 denotes buphthalmos
AB3 1209-1228 ORDO:98976 denotes congenital glaucoma

PIR-corpus1

Id Subject Object Predicate Lexical cue
T1 820-827 protein denotes protein

DisGeNET

Id Subject Object Predicate Lexical cue
T0 283-299 gene:4051 denotes cytochrome P 450
T1 166-185 disease:C0020302 denotes congenital glaucoma
T2 305-311 gene:1545 denotes CYP1B1
T3 166-185 disease:C0020302 denotes congenital glaucoma
R1 T0 T1 associated_with cytochrome P 450,congenital glaucoma
R2 T2 T3 associated_with CYP1B1,congenital glaucoma