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PubMed:19428252 JSONTXT

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sentences

Id Subject Object Predicate Lexical cue
TextSentencer_T1 0-137 Sentence denotes Molecular analysis in a family presenting with a mild form of late-onset autosomal dominant chronic progressive external ophthalmoplegia.
TextSentencer_T2 138-369 Sentence denotes Nuclear genes affecting mitochondrial genome stability were screened in an Italian family presenting with autosomal dominant progressive external ophthalmoplegia (adPEO) associated with multiple mitochondrial DNA (mtDNA) deletions.
TextSentencer_T3 370-733 Sentence denotes We report on a heterozygous c.907C>T (p.R303W) mutation found in the N-terminal domain of the human mitochondrial DNA helicase, Twinkle protein, in six members of a family, in which two individuals manifested late-onset PEO and morphological and molecular signs of mitochondrial dysfunction along with two carriers who are presently free of disease manifestation.
TextSentencer_T4 734-855 Sentence denotes We also investigated if the p.R303W mutation in PEO1 gene affected the relative copy number of mitochondrial DNA genomes.
T1 0-137 Sentence denotes Molecular analysis in a family presenting with a mild form of late-onset autosomal dominant chronic progressive external ophthalmoplegia.
T2 138-369 Sentence denotes Nuclear genes affecting mitochondrial genome stability were screened in an Italian family presenting with autosomal dominant progressive external ophthalmoplegia (adPEO) associated with multiple mitochondrial DNA (mtDNA) deletions.
T3 370-733 Sentence denotes We report on a heterozygous c.907C>T (p.R303W) mutation found in the N-terminal domain of the human mitochondrial DNA helicase, Twinkle protein, in six members of a family, in which two individuals manifested late-onset PEO and morphological and molecular signs of mitochondrial dysfunction along with two carriers who are presently free of disease manifestation.
T4 734-855 Sentence denotes We also investigated if the p.R303W mutation in PEO1 gene affected the relative copy number of mitochondrial DNA genomes.

DisGeNET5_variant_disease

Id Subject Object Predicate Lexical cue
19428252-2#38#45#geners374997012 408-415 geners374997012 denotes p.R303W
19428252-2#279#290#diseaseC3887505 649-660 diseaseC3887505 denotes dysfunction
38#45#geners374997012279#290#diseaseC3887505 19428252-2#38#45#geners374997012 19428252-2#279#290#diseaseC3887505 associated_with p.R303W,dysfunction

DisGeNET5_gene_disease

Id Subject Object Predicate Lexical cue
19428252-2#220#223#gene5428 590-593 gene5428 denotes PEO
19428252-2#220#223#gene56652 590-593 gene56652 denotes PEO
19428252-2#279#290#diseaseC3887505 649-660 diseaseC3887505 denotes dysfunction
220#223#gene5428279#290#diseaseC3887505 19428252-2#220#223#gene5428 19428252-2#279#290#diseaseC3887505 associated_with PEO,dysfunction
220#223#gene56652279#290#diseaseC3887505 19428252-2#220#223#gene56652 19428252-2#279#290#diseaseC3887505 associated_with PEO,dysfunction

PubCasesHPO

Id Subject Object Predicate Lexical cue
TI1 100-136 HP:0000590 denotes progressive external ophthalmoplegia
AB1 263-299 HP:0000590 denotes progressive external ophthalmoplegia

PubCasesORDO

Id Subject Object Predicate Lexical cue
AB1 244-299 ORDO:254892 denotes autosomal dominant progressive external ophthalmoplegia
AB2 301-306 ORDO:254892 denotes adPEO