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PubMed:20809772 JSONTXT

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sentences

Id Subject Object Predicate Lexical cue
TextSentencer_T1 0-126 Sentence denotes A case report of a patient with Pfeiffer syndrome, an FGRF 2 mutation (Trp290Cys) and unique ocular anterior segment findings.
TextSentencer_T2 127-135 Sentence denotes PURPOSE:
TextSentencer_T3 136-264 Sentence denotes To report a case of a child with Pfeiffer syndrome, unique ocular anterior segment findings and a mutation in FGFR2 (Trp290Cys).
TextSentencer_T4 265-273 Sentence denotes METHODS:
TextSentencer_T5 274-286 Sentence denotes Case Report.
TextSentencer_T6 287-295 Sentence denotes RESULTS:
TextSentencer_T7 296-476 Sentence denotes We describe a patient with Pfeiffer syndrome with a unique constellation of ocular anterior segment anomalies including microcornea, limbal scleralization, corectopia and glaucoma.
TextSentencer_T8 477-701 Sentence denotes Genomic DNA extraction was heterozygous for a G to T mutation at nucleotide 870 of the fibroblast growth factor receptor 2 gene (FGFR2) which changes tryptophan (TGG) to cysteine (TGT) at amino acid position 290 (Trp290Cys).
TextSentencer_T9 702-713 Sentence denotes CONCLUSION:
TextSentencer_T10 714-940 Sentence denotes This case supports the association between Pfeiffer syndrome and severe ocular anterior segment anomalies, including glaucoma, and underscores the possible role that FGFR2 has in development of the anterior segment of the eye.
T1 0-126 Sentence denotes A case report of a patient with Pfeiffer syndrome, an FGRF 2 mutation (Trp290Cys) and unique ocular anterior segment findings.
T2 127-135 Sentence denotes PURPOSE:
T3 136-264 Sentence denotes To report a case of a child with Pfeiffer syndrome, unique ocular anterior segment findings and a mutation in FGFR2 (Trp290Cys).
T4 265-273 Sentence denotes METHODS:
T5 274-286 Sentence denotes Case Report.
T6 287-295 Sentence denotes RESULTS:
T7 296-476 Sentence denotes We describe a patient with Pfeiffer syndrome with a unique constellation of ocular anterior segment anomalies including microcornea, limbal scleralization, corectopia and glaucoma.
T8 477-701 Sentence denotes Genomic DNA extraction was heterozygous for a G to T mutation at nucleotide 870 of the fibroblast growth factor receptor 2 gene (FGFR2) which changes tryptophan (TGG) to cysteine (TGT) at amino acid position 290 (Trp290Cys).
T9 702-713 Sentence denotes CONCLUSION:
T10 714-940 Sentence denotes This case supports the association between Pfeiffer syndrome and severe ocular anterior segment anomalies, including glaucoma, and underscores the possible role that FGFR2 has in development of the anterior segment of the eye.

Allie

Id Subject Object Predicate Lexical cue
SS1_20809772_7_0 564-604 expanded denotes fibroblast growth factor receptor 2 gene
SS2_20809772_7_0 606-611 abbr denotes FGFR2
AE1_20809772_7_0 SS1_20809772_7_0 SS2_20809772_7_0 abbreviatedTo fibroblast growth factor receptor 2 gene,FGFR2

DisGeNET5_variant_disease

Id Subject Object Predicate Lexical cue
20809772-1#117#126#geners121918499 253-262 geners121918499 denotes Trp290Cys
20809772-1#33#50#diseaseC0220658 169-186 diseaseC0220658 denotes Pfeiffer syndrome
117#126#geners12191849933#50#diseaseC0220658 20809772-1#117#126#geners121918499 20809772-1#33#50#diseaseC0220658 associated_with Trp290Cys,Pfeiffer syndrome

DisGeNET5_gene_disease

Id Subject Object Predicate Lexical cue
20809772-5#166#171#gene2263 880-885 gene2263 denotes FGFR2
20809772-5#43#60#diseaseC0220658 757-774 diseaseC0220658 denotes Pfeiffer syndrome
166#171#gene226343#60#diseaseC0220658 20809772-5#166#171#gene2263 20809772-5#43#60#diseaseC0220658 associated_with FGFR2,Pfeiffer syndrome

PubCasesHPO

Id Subject Object Predicate Lexical cue
AB1 416-427 HP:0000482 denotes microcornea
AB2 467-475 HP:0000501 denotes glaucoma
AB3 831-839 HP:0000501 denotes glaucoma

UBERON-AE

Id Subject Object Predicate Lexical cue
PD-UBERON-AE-B_T1 936-939 http://purl.obolibrary.org/obo/UBERON_0000970 denotes eye

PubCasesORDO

Id Subject Object Predicate Lexical cue
TI1 32-49 ORDO:710 denotes Pfeiffer syndrome
AB1 169-186 ORDO:710 denotes Pfeiffer syndrome
AB2 323-340 ORDO:710 denotes Pfeiffer syndrome
AB3 757-774 ORDO:710 denotes Pfeiffer syndrome

performance-test

Id Subject Object Predicate Lexical cue
PD-UBERON-AE-B_T1 936-939 http://purl.obolibrary.org/obo/UBERON_0000970 denotes eye