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PubMed:10076877 JSONTXT

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sentences

Id Subject Object Predicate Lexical cue
TextSentencer_T1 0-180 Sentence denotes Long-chain L 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency does not appear to be the primary cause of lipid myopathy in patients with Bannayan-Riley-Ruvalcaba syndrome (BRRS).
TextSentencer_T2 181-550 Sentence denotes In order to test the hypothesis that long-chain L 3-hydroxyacyl-coenzyme A dehydrogenase (LCHAD) deficiency is associated with the lipid myopathy and muscle carnitine deficiency observed in Bannayan-Riley-Ruvalcaba syndrome (BRRS), we studied the enzyme activity in cultured skin fibroblasts from three generations of a family with a clear dominant inheritance of BRRS.
TextSentencer_T3 551-665 Sentence denotes Enzyme activities were normal while the germline PTEN missense mutation P246L segregated with BRRS in this family.
TextSentencer_T4 666-755 Sentence denotes No PTEN mutations were identified in the original patient with BRRS and LCHAD deficiency.
TextSentencer_T5 756-961 Sentence denotes These data suggest that the previously reported case of LCHAD and BRRS either represents the coincidental concurrence of two rare genetic events or that a gene other than PTEN is related to LCHAD and BRRS.
T1 0-180 Sentence denotes Long-chain L 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency does not appear to be the primary cause of lipid myopathy in patients with Bannayan-Riley-Ruvalcaba syndrome (BRRS).
T2 181-550 Sentence denotes In order to test the hypothesis that long-chain L 3-hydroxyacyl-coenzyme A dehydrogenase (LCHAD) deficiency is associated with the lipid myopathy and muscle carnitine deficiency observed in Bannayan-Riley-Ruvalcaba syndrome (BRRS), we studied the enzyme activity in cultured skin fibroblasts from three generations of a family with a clear dominant inheritance of BRRS.
T3 551-665 Sentence denotes Enzyme activities were normal while the germline PTEN missense mutation P246L segregated with BRRS in this family.
T4 666-755 Sentence denotes No PTEN mutations were identified in the original patient with BRRS and LCHAD deficiency.
T5 756-961 Sentence denotes These data suggest that the previously reported case of LCHAD and BRRS either represents the coincidental concurrence of two rare genetic events or that a gene other than PTEN is related to LCHAD and BRRS.

DisGeNET5_variant_disease

Id Subject Object Predicate Lexical cue
10076877-2#72#77#geners587782350 623-628 geners587782350 denotes P246L
10076877-2#94#98#diseaseC0265326 645-649 diseaseC0265326 denotes BRRS
72#77#geners58778235094#98#diseaseC0265326 10076877-2#72#77#geners587782350 10076877-2#94#98#diseaseC0265326 associated_with P246L,BRRS

DisGeNET5_gene_disease

Id Subject Object Predicate Lexical cue
10076877-4#171#175#gene5728 927-931 gene5728 denotes PTEN
10076877-4#66#70#diseaseC0265326 822-826 diseaseC0265326 denotes BRRS
10076877-4#200#204#diseaseC0265326 956-960 diseaseC0265326 denotes BRRS
171#175#gene572866#70#diseaseC0265326 10076877-4#171#175#gene5728 10076877-4#66#70#diseaseC0265326 associated_with PTEN,BRRS
171#175#gene5728200#204#diseaseC0265326 10076877-4#171#175#gene5728 10076877-4#200#204#diseaseC0265326 associated_with PTEN,BRRS

PubCasesHPO

Id Subject Object Predicate Lexical cue
TI1 113-121 HP:0003198 denotes myopathy
AB1 318-326 HP:0003198 denotes myopathy

PubCasesORDO

Id Subject Object Predicate Lexical cue
TI1 46-63 ORDO:5 denotes LCHAD) deficiency
AB1 271-288 ORDO:5 denotes LCHAD) deficiency
TI2 139-172 ORDO:109 denotes Bannayan-Riley-Ruvalcaba syndrome
TI3 174-178 ORDO:109 denotes BRRS
AB2 371-404 ORDO:109 denotes Bannayan-Riley-Ruvalcaba syndrome
AB3 406-410 ORDO:109 denotes BRRS
AB4 545-549 ORDO:109 denotes BRRS
AB5 645-649 ORDO:109 denotes BRRS
AB6 729-733 ORDO:109 denotes BRRS
AB7 738-754 ORDO:5 denotes LCHAD deficiency
AB8 822-826 ORDO:109 denotes BRRS
AB9 956-960 ORDO:109 denotes BRRS

DisGeNET

Id Subject Object Predicate Lexical cue
T0 600-604 gene:5728 denotes PTEN
T1 645-649 disease:C0265326 denotes BRRS
T2 669-673 gene:5728 denotes PTEN
T3 738-754 disease:C1969443 denotes LCHAD deficiency
T4 669-673 gene:5728 denotes PTEN
T5 729-733 disease:C0265326 denotes BRRS
R1 T0 T1 associated_with PTEN,BRRS
R2 T2 T3 associated_with PTEN,LCHAD deficiency
R3 T4 T5 associated_with PTEN,BRRS

PubmedHPO

Id Subject Object Predicate Lexical cue
T1 318-326 HP_0003198 denotes myopathy