PubMed:15725589
Annnotations
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 |