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PubMed:10071193 JSONTXT

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sentences

Id Subject Object Predicate Lexical cue
TextSentencer_T1 0-211 Sentence denotes Fibroblast growth factor homologous factor 2 (FHF2): gene structure, expression and mapping to the Börjeson-Forssman-Lehmann syndrome region in Xq26 delineated by a duplication breakpoint in a BFLS-like patient.
TextSentencer_T2 212-364 Sentence denotes Börjeson-Forssman-Lehmann syndrome (BFLS) is a syndromal X-linked mental retardation, which maps by linkage to the q26 region of the human X chromosome.
TextSentencer_T3 365-511 Sentence denotes We have identified a male patient with BFLS-like features and a duplication, 46,Y,dup(X)(q26q28), inherited from his phenotypically normal mother.
TextSentencer_T4 512-725 Sentence denotes Fluorescence in situ hybridisation using yeast artificial chromosome clones from Xq26 localised the duplication breakpoint to an approximately 400-kb interval in the Xq26.3 region between DXS155 and DXS294/DXS730.
TextSentencer_T5 726-934 Sentence denotes Database searches and analysis of available genomic DNA sequence from the region revealed the presence of the fibroblast growth factor homologous factor gene, FHF2, within the duplication breakpoint interval.
TextSentencer_T6 935-1044 Sentence denotes The gene structure of FHF2 was determined and two new exons were identified, including a new 5' end exon, 1B.
TextSentencer_T7 1045-1152 Sentence denotes FHF2 is a large gene extending over approximately 200 kb in Xq26.3 and is composed of at least seven exons.
TextSentencer_T8 1153-1236 Sentence denotes It shows tissue-specific alternative splicing and alternative transcription starts.
TextSentencer_T9 1237-1320 Sentence denotes Northern blot hybridisation showed highest expression in brain and skeletal muscle.
TextSentencer_T10 1321-1557 Sentence denotes The FHF2 gene localisation and tissue-specific expression pattern suggest it to be a candidate gene for familial cases of the BFLS syndrome and other syndromal and non-specific forms of X-linked mental retardation mapping to the region.
T1 0-211 Sentence denotes Fibroblast growth factor homologous factor 2 (FHF2): gene structure, expression and mapping to the Börjeson-Forssman-Lehmann syndrome region in Xq26 delineated by a duplication breakpoint in a BFLS-like patient.
T2 212-364 Sentence denotes Börjeson-Forssman-Lehmann syndrome (BFLS) is a syndromal X-linked mental retardation, which maps by linkage to the q26 region of the human X chromosome.
T3 365-511 Sentence denotes We have identified a male patient with BFLS-like features and a duplication, 46,Y,dup(X)(q26q28), inherited from his phenotypically normal mother.
T4 512-725 Sentence denotes Fluorescence in situ hybridisation using yeast artificial chromosome clones from Xq26 localised the duplication breakpoint to an approximately 400-kb interval in the Xq26.3 region between DXS155 and DXS294/DXS730.
T5 726-934 Sentence denotes Database searches and analysis of available genomic DNA sequence from the region revealed the presence of the fibroblast growth factor homologous factor gene, FHF2, within the duplication breakpoint interval.
T6 935-1044 Sentence denotes The gene structure of FHF2 was determined and two new exons were identified, including a new 5' end exon, 1B.
T7 1045-1152 Sentence denotes FHF2 is a large gene extending over approximately 200 kb in Xq26.3 and is composed of at least seven exons.
T8 1153-1236 Sentence denotes It shows tissue-specific alternative splicing and alternative transcription starts.
T9 1237-1320 Sentence denotes Northern blot hybridisation showed highest expression in brain and skeletal muscle.
T10 1321-1557 Sentence denotes The FHF2 gene localisation and tissue-specific expression pattern suggest it to be a candidate gene for familial cases of the BFLS syndrome and other syndromal and non-specific forms of X-linked mental retardation mapping to the region.

DisGeNET5_gene_disease

Id Subject Object Predicate Lexical cue
10071193-9#4#8#gene2258 1325-1329 gene2258 denotes FHF2
10071193-9#126#130#diseaseC0265339 1447-1451 diseaseC0265339 denotes BFLS
10071193-9#186#213#diseaseC1136249 1507-1534 diseaseC1136249 denotes X-linked mental retardation
4#8#gene2258126#130#diseaseC0265339 10071193-9#4#8#gene2258 10071193-9#126#130#diseaseC0265339 associated_with FHF2,BFLS
4#8#gene2258186#213#diseaseC1136249 10071193-9#4#8#gene2258 10071193-9#186#213#diseaseC1136249 associated_with FHF2,X-linked mental retardation

performance-test

Id Subject Object Predicate Lexical cue
PD-UBERON-AE-B_T1 1294-1299 http://purl.obolibrary.org/obo/UBERON_0000955 denotes brain
PD-UBERON-AE-B_T2 1162-1168 http://purl.obolibrary.org/obo/UBERON_0000479 denotes tissue
PD-UBERON-AE-B_T3 1352-1358 http://purl.obolibrary.org/obo/UBERON_0000479 denotes tissue

PubCasesORDO

Id Subject Object Predicate Lexical cue
AB1 212-246 ORDO:127 denotes Börjeson-Forssman-Lehmann syndrome
AB2 248-252 ORDO:127 denotes BFLS
TI1 99-133 ORDO:127 denotes Börjeson-Forssman-Lehmann syndrome
AB3 404-408 ORDO:127 denotes BFLS
TI2 193-197 ORDO:127 denotes BFLS
AB4 1447-1451 ORDO:127 denotes BFLS

UBERON-AE

Id Subject Object Predicate Lexical cue
PD-UBERON-AE-B_T1 1162-1168 http://purl.obolibrary.org/obo/UBERON_0000479 denotes tissue
PD-UBERON-AE-B_T2 1352-1358 http://purl.obolibrary.org/obo/UBERON_0000479 denotes tissue
PD-UBERON-AE-B_T3 1294-1299 http://purl.obolibrary.org/obo/UBERON_0000955 denotes brain

NCBIDiseaseCorpus

Id Subject Object Predicate Lexical cue
T1 99-133 Modifier:C536575 denotes Börjeson-Forssman-Lehmann syndrome
T2 193-197 Modifier:C536575 denotes BFLS
T3 212-246 SpecificDisease:C536575 denotes Börjeson-Forssman-Lehmann syndrome
T4 248-252 SpecificDisease:C536575 denotes BFLS
T5 269-296 DiseaseClass:D038901 denotes X-linked mental retardation
T6 404-408 Modifier:C536575 denotes BFLS
T7 1447-1460 SpecificDisease:C536575 denotes BFLS syndrome
T8 1507-1534 DiseaseClass:D038901 denotes X-linked mental retardation

DisGeNET

Id Subject Object Predicate Lexical cue
T0 1325-1329 gene:2258 denotes FHF2
T1 1447-1451 disease:C0265339 denotes BFLS
T2 1325-1329 gene:2258 denotes FHF2
T3 1507-1534 disease:C1136249 denotes X-linked mental retardation
R1 T0 T1 associated_with FHF2,BFLS
R2 T2 T3 associated_with FHF2,X-linked mental retardation

PubmedHPO

Id Subject Object Predicate Lexical cue
T1 269-277 HP_0001417 denotes X-linked
T2 278-296 HP_0001249 denotes mental retardation
T3 429-440 HP_0009609 denotes duplication
T4 612-623 HP_0009609 denotes duplication
T5 902-913 HP_0009609 denotes duplication
T6 1507-1515 HP_0001417 denotes X-linked
T7 1516-1534 HP_0001249 denotes mental retardation

NCBI-Disease-Train

Id Subject Object Predicate Lexical cue database_id
T3895 99-133 Modifier denotes Börjeson-Forssman-Lehmann syndrome C536575
T3896 193-197 Modifier denotes BFLS C536575
T3897 212-246 SpecificDisease denotes Börjeson-Forssman-Lehmann syndrome C536575
T3898 248-252 SpecificDisease denotes BFLS C536575
T3899 269-296 DiseaseClass denotes X-linked mental retardation D038901
T3900 404-408 Modifier denotes BFLS C536575
T3901 1447-1460 SpecificDisease denotes BFLS syndrome C536575
T3902 1507-1534 DiseaseClass denotes X-linked mental retardation D038901

NCBI-Disease-Corpus-All

Id Subject Object Predicate Lexical cue database_id
T3895 99-133 Modifier denotes Börjeson-Forssman-Lehmann syndrome C536575
T3896 193-197 Modifier denotes BFLS C536575
T3897 212-246 SpecificDisease denotes Börjeson-Forssman-Lehmann syndrome C536575
T3898 248-252 SpecificDisease denotes BFLS C536575
T3899 269-296 DiseaseClass denotes X-linked mental retardation D038901
T3900 404-408 Modifier denotes BFLS C536575
T3901 1447-1460 SpecificDisease denotes BFLS syndrome C536575
T3902 1507-1534 DiseaseClass denotes X-linked mental retardation D038901

NCBI-Disease-Corpus-2stage-All

Id Subject Object Predicate Lexical cue
T1 99-133 DiseaseClass denotes Börjeson-Forssman-Lehmann syndrome
T2 193-197 Modifier denotes BFLS
T3 212-246 DiseaseClass denotes Börjeson-Forssman-Lehmann syndrome
T4 248-252 Modifier denotes BFLS
T5 404-408 Modifier denotes BFLS
T6 1447-1451 DiseaseClass denotes BFLS

NCBI-Disease-Corpus-rezarta-All

Id Subject Object Predicate Lexical cue
T1 99-133 Modifier denotes Börjeson-Forssman-Lehmann syndrome
T2 193-197 Modifier denotes BFLS
T3 212-246 SpecificDisease denotes Börjeson-Forssman-Lehmann syndrome
T4 248-252 SpecificDisease denotes BFLS
T5 404-408 SpecificDisease denotes BFLS
T6 1447-1460 SpecificDisease denotes BFLS syndrome
T7 1507-1534 DiseaseClass denotes X-linked mental retardation

NCBI-Disease-Corpus-4oGuideline-All

Id Subject Object Predicate Lexical cue
T1 99-133 SpecificDisease denotes Börjeson-Forssman-Lehmann syndrome
T2 193-202 SpecificDisease denotes BFLS-like
T3 212-246 SpecificDisease denotes Börjeson-Forssman-Lehmann syndrome
T4 269-296 DiseaseClass denotes X-linked mental retardation
T5 404-413 SpecificDisease denotes BFLS-like
T6 1447-1460 SpecificDisease denotes BFLS syndrome
T7 1485-1534 DiseaseClass denotes non-specific forms of X-linked mental retardation

NCBI-Disease-Corpus-Simple-All

Id Subject Object Predicate Lexical cue
T1 99-133 SpecificDisease denotes Börjeson-Forssman-Lehmann syndrome
T2 193-202 CompositeMention denotes BFLS-like
T3 212-253 SpecificDisease denotes Börjeson-Forssman-Lehmann syndrome (BFLS)
T4 259-296 DiseaseClass denotes syndromal X-linked mental retardation
T5 404-422 CompositeMention denotes BFLS-like features
T6 1447-1460 SpecificDisease denotes BFLS syndrome
T7 1471-1534 CompositeMention denotes syndromal and non-specific forms of X-linked mental retardation