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PubMed:1348851 JSONTXT

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sentences

Id Subject Object Predicate Lexical cue
TextSentencer_T1 0-102 Sentence denotes Prion protein mutation at codon 102 in an Italian family with Gerstmann-Sträussler-Scheinker syndrome.
TextSentencer_T2 103-278 Sentence denotes We present the first family from Italy with the Gerstmann-Sträussler-Scheinker syndrome (GSS) and a substitution of leucine for proline at codon 102 of the prion protein gene.
TextSentencer_T3 279-368 Sentence denotes This mutation is associated with the ataxic form of GSS in a number of reported families.
TextSentencer_T4 369-492 Sentence denotes The clinical presentation of our family includes amyotrophic changes in some affected family members in addition to ataxia.
T1 0-102 Sentence denotes Prion protein mutation at codon 102 in an Italian family with Gerstmann-Sträussler-Scheinker syndrome.
T2 103-278 Sentence denotes We present the first family from Italy with the Gerstmann-Sträussler-Scheinker syndrome (GSS) and a substitution of leucine for proline at codon 102 of the prion protein gene.
T3 279-368 Sentence denotes This mutation is associated with the ataxic form of GSS in a number of reported families.
T4 369-492 Sentence denotes The clinical presentation of our family includes amyotrophic changes in some affected family members in addition to ataxia.

DisGeNET5_variant_disease

Id Subject Object Predicate Lexical cue
1348851-1#116#148#geners74315401 219-251 geners74315401 denotes leucine for proline at codon 102
1348851-1#48#87#diseaseC0017495 151-190 diseaseC0017495 denotes Gerstmann-Sträussler-Scheinker syndrome
1348851-1#89#92#diseaseC0017495 192-195 diseaseC0017495 denotes GSS
116#148#geners7431540148#87#diseaseC0017495 1348851-1#116#148#geners74315401 1348851-1#48#87#diseaseC0017495 associated_with leucine for proline at codon 102,Gerstmann-Sträussler-Scheinker syndrome
116#148#geners7431540189#92#diseaseC0017495 1348851-1#116#148#geners74315401 1348851-1#89#92#diseaseC0017495 associated_with leucine for proline at codon 102,GSS

DisGeNET5_gene_disease

Id Subject Object Predicate Lexical cue
1348851-0#0#13#gene5621 0-13 gene5621 denotes Prion protein
1348851-0#62#101#diseaseC0017495 62-101 diseaseC0017495 denotes Gerstmann-Sträussler-Scheinker syndrome
0#13#gene562162#101#diseaseC0017495 1348851-0#0#13#gene5621 1348851-0#62#101#diseaseC0017495 associated_with Prion protein,Gerstmann-Sträussler-Scheinker syndrome

PubCasesHPO

Id Subject Object Predicate Lexical cue
AB1 485-491 HP:0001251 denotes ataxia

PubCasesORDO

Id Subject Object Predicate Lexical cue
AB1 151-190 ORDO:356 denotes Gerstmann-Sträussler-Scheinker syndrome
TI1 62-101 ORDO:356 denotes Gerstmann-Sträussler-Scheinker syndrome

DisGeNET

Id Subject Object Predicate Lexical cue
T0 0-13 gene:5621 denotes Prion protein
T1 62-101 disease:C0017495 denotes Gerstmann-Sträussler-Scheinker syndrome
T2 259-272 gene:5621 denotes prion protein
T3 151-190 disease:C0017495 denotes Gerstmann-Sträussler-Scheinker syndrome
R1 T0 T1 associated_with Prion protein,Gerstmann-Sträussler-Scheinker syndrome
R2 T2 T3 associated_with prion protein,Gerstmann-Sträussler-Scheinker syndrome