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PubMed:15725589 JSONTXT

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sentences

Id Subject Object Predicate Lexical cue
TextSentencer_T1 0-85 Sentence denotes Oculopharyngeal muscular dystrophy with PABPN1 mutation in a Chinese Malaysian woman.
TextSentencer_T2 86-371 Sentence denotes Oculopharyngeal muscular dystrophy (OPMD) is an autosomal dominant disorder of middle age presenting as progressive dysphagia and eyelid ptosis, due to short expansions of the GCG trinucleotide repeat (from GCG6 to GCG8-13) in the polyadenylate binding-protein nuclear 1 (PABPN1) gene.
TextSentencer_T3 372-502 Sentence denotes OPMD is rarely seen in Asians and morphologically and/or genetically confirmed cases have been reported in Japanese kindreds only.
TextSentencer_T4 503-631 Sentence denotes We report a 64 year old Chinese-Malaysian woman who presented with progressive dysphagia and bilateral ptosis for about 6 years.
TextSentencer_T5 632-706 Sentence denotes Her mother and elder brother (both deceased) were believed to be affected.
TextSentencer_T6 707-776 Sentence denotes Muscle histopathology revealed angulated fibres with rimmed vacuoles.
TextSentencer_T7 777-875 Sentence denotes Genetic analysis showed repeat expansion in one allele to (GCG)9 while normal in the other (GCG)6.
TextSentencer_T8 876-952 Sentence denotes This is the first non-Japanese Asian family with genetically confirmed OPMD.
T1 0-85 Sentence denotes Oculopharyngeal muscular dystrophy with PABPN1 mutation in a Chinese Malaysian woman.
T2 86-371 Sentence denotes Oculopharyngeal muscular dystrophy (OPMD) is an autosomal dominant disorder of middle age presenting as progressive dysphagia and eyelid ptosis, due to short expansions of the GCG trinucleotide repeat (from GCG6 to GCG8-13) in the polyadenylate binding-protein nuclear 1 (PABPN1) gene.
T3 372-502 Sentence denotes OPMD is rarely seen in Asians and morphologically and/or genetically confirmed cases have been reported in Japanese kindreds only.
T4 503-631 Sentence denotes We report a 64 year old Chinese-Malaysian woman who presented with progressive dysphagia and bilateral ptosis for about 6 years.
T5 632-706 Sentence denotes Her mother and elder brother (both deceased) were believed to be affected.
T6 707-776 Sentence denotes Muscle histopathology revealed angulated fibres with rimmed vacuoles.
T7 777-875 Sentence denotes Genetic analysis showed repeat expansion in one allele to (GCG)9 while normal in the other (GCG)6.
T8 876-952 Sentence denotes This is the first non-Japanese Asian family with genetically confirmed OPMD.

DisGeNET5_gene_disease

Id Subject Object Predicate Lexical cue
15725589-0#40#46#gene8106 40-46 gene8106 denotes PABPN1
15725589-0#0#34#diseaseC0270952 0-34 diseaseC0270952 denotes Oculopharyngeal muscular dystrophy
15725589-1#272#278#gene8106 358-364 gene8106 denotes PABPN1
15725589-1#48#75#diseaseC3899989 134-161 diseaseC3899989 denotes autosomal dominant disorder
15725589-1#104#125#diseaseC0743319 190-211 diseaseC0743319 denotes progressive dysphagia
15725589-1#130#143#diseaseC0005745 216-229 diseaseC0005745 denotes eyelid ptosis
40#46#gene81060#34#diseaseC0270952 15725589-0#40#46#gene8106 15725589-0#0#34#diseaseC0270952 associated_with PABPN1,Oculopharyngeal muscular dystrophy
272#278#gene810648#75#diseaseC3899989 15725589-1#272#278#gene8106 15725589-1#48#75#diseaseC3899989 associated_with PABPN1,autosomal dominant disorder
272#278#gene8106104#125#diseaseC0743319 15725589-1#272#278#gene8106 15725589-1#104#125#diseaseC0743319 associated_with PABPN1,progressive dysphagia
272#278#gene8106130#143#diseaseC0005745 15725589-1#272#278#gene8106 15725589-1#130#143#diseaseC0005745 associated_with PABPN1,eyelid ptosis

PubCasesHPO

Id Subject Object Predicate Lexical cue
TI1 16-34 HP:0003560 denotes muscular dystrophy
AB1 202-211 HP:0002015 denotes dysphagia
AB2 223-229 HP:0000508 denotes ptosis
AB3 582-591 HP:0002015 denotes dysphagia
AB4 596-612 HP:0001488 denotes bilateral ptosis
AB5 760-775 HP:0003805 denotes rimmed vacuoles

PubCasesORDO

Id Subject Object Predicate Lexical cue
AB1 86-120 ORDO:270 denotes Oculopharyngeal muscular dystrophy
AB2 122-126 ORDO:270 denotes OPMD
AB3 372-376 ORDO:270 denotes OPMD
AB4 947-951 ORDO:270 denotes OPMD

performance-test

Id Subject Object Predicate Lexical cue
PD-UBERON-AE-B_T1 216-222 http://purl.obolibrary.org/obo/UBERON_0001711 denotes eyelid

DisGeNET

Id Subject Object Predicate Lexical cue
T0 40-46 gene:8106 denotes PABPN1
T1 0-34 disease:C0270952 denotes Oculopharyngeal muscular dystrophy
R1 T0 T1 associated_with PABPN1,Oculopharyngeal muscular dystrophy