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PubMed:10078749 JSONTXT

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DisGeNET5_gene_disease

Id Subject Object Predicate Lexical cue
10078749-0#0#4#gene2643 0-4 gene2643 denotes GCH1
10078749-0#58#66#diseaseC0013421 58-66 diseaseC0013421 denotes dystonia
10078749-0#58#66#diseaseC0393593 58-66 diseaseC0393593 denotes dystonia
0#4#gene264358#66#diseaseC0013421 10078749-0#0#4#gene2643 10078749-0#58#66#diseaseC0013421 associated_with GCH1,dystonia
0#4#gene264358#66#diseaseC0393593 10078749-0#0#4#gene2643 10078749-0#58#66#diseaseC0393593 associated_with GCH1,dystonia

PubCasesHPO

Id Subject Object Predicate Lexical cue
TI1 44-66 HP:0012048 denotes oromandibular dystonia
AB1 146-168 HP:0012048 denotes oromandibular dystonia
AB2 202-210 HP:0001332 denotes dystonia
AB3 408-416 HP:0001332 denotes dystonia

PubCasesORDO

Id Subject Object Predicate Lexical cue
TI1 44-66 ORDO:93958 denotes oromandibular dystonia
AB1 146-168 ORDO:93958 denotes oromandibular dystonia

sentences

Id Subject Object Predicate Lexical cue
TextSentencer_T1 0-67 Sentence denotes GCH1 mutation in a patient with adult-onset oromandibular dystonia.
TextSentencer_T2 68-211 Sentence denotes The authors report a mutation in exon 5 of GCH1 in a patient with adult-onset oromandibular dystonia and no obvious family history of dystonia.
TextSentencer_T3 212-270 Sentence denotes The patient responded positively to treatment with L-dopa.
TextSentencer_T4 271-417 Sentence denotes These findings demonstrate that GCH1 mutations must be considered even in patients with dystonic symptoms not typical of dopa-responsive dystonia.
T1 0-67 Sentence denotes GCH1 mutation in a patient with adult-onset oromandibular dystonia.
T2 68-211 Sentence denotes The authors report a mutation in exon 5 of GCH1 in a patient with adult-onset oromandibular dystonia and no obvious family history of dystonia.
T3 212-270 Sentence denotes The patient responded positively to treatment with L-dopa.
T4 271-417 Sentence denotes These findings demonstrate that GCH1 mutations must be considered even in patients with dystonic symptoms not typical of dopa-responsive dystonia.

NCBIDiseaseCorpus

Id Subject Object Predicate Lexical cue
T1 44-66 SpecificDisease:D008538 denotes oromandibular dystonia
T2 146-168 SpecificDisease:D008538 denotes oromandibular dystonia
T3 202-210 DiseaseClass:D004421 denotes dystonia
T4 359-367 Modifier:D004421 denotes dystonic
T5 392-416 SpecificDisease:C538007 denotes dopa-responsive dystonia

DisGeNET

Id Subject Object Predicate Lexical cue
T0 111-115 gene:2643 denotes GCH1
T1 146-168 disease:C2242577 denotes oromandibular dystonia
T2 111-115 gene:2643 denotes GCH1
T3 202-210 disease:C0013421 denotes dystonia
T4 111-115 gene:2643 denotes GCH1
T5 202-210 disease:C0393593 denotes dystonia
R1 T0 T1 associated_with GCH1,oromandibular dystonia
R2 T2 T3 associated_with GCH1,dystonia
R3 T4 T5 associated_with GCH1,dystonia

PubmedHPO

Id Subject Object Predicate Lexical cue
T1 146-168 HP_0012048 denotes oromandibular dystonia
T2 160-168 HP_0001332 denotes dystonia
T3 202-210 HP_0001332 denotes dystonia
T4 408-416 HP_0001332 denotes dystonia