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PubMed:10737981 JSONTXT

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sentences

Id Subject Object Predicate Lexical cue
TextSentencer_T1 0-153 Sentence denotes beta-galactosidase gene mutations affecting the lysosomal enzyme and the elastin-binding protein in GM1-gangliosidosis patients with cardiac involvement.
TextSentencer_T2 154-260 Sentence denotes GM1-gangliosidosis is a lysosomal storage disorder caused by deficiency of acid beta-galactosidase (GLB1).
TextSentencer_T3 261-394 Sentence denotes We report five new beta-galactosidase gene mutations in nine Italian patients and one fetus, segregating in seven unrelated families.
TextSentencer_T4 395-551 Sentence denotes Six of the eight patients with the infantile, severe form of the disease presented cardiac involvement, a feature rarely associated with GM1-gangliosidosis.
TextSentencer_T5 552-707 Sentence denotes Molecular analysis of the patients' RNA and DNA identified two new RNA splicing defects, three new and three previously described amino acid substitutions.
TextSentencer_T6 708-839 Sentence denotes Interestingly, all patients with cardiac involvement were homozygous for one of these mutations: R59H, Y591C, Y591N, or IVS14-2A>G.
TextSentencer_T7 840-966 Sentence denotes In contrast, all other patients were compound heterozygous for one of the following mutations: R201H, R482H, G579D, IVS8+2T>C.
TextSentencer_T8 967-1277 Sentence denotes Although we could not directly correlate the presence of cardiac abnormalities with specific genetic lesions, the mutations identified in patients with cardiomyopathy fell in the GLB1 cDNA region common to the lysosomal enzyme and the Hbeta-Gal-related protein, also known as the elastin binding protein (EBP).
TextSentencer_T9 1278-1428 Sentence denotes Consequently, both molecules are affected by the mutations, and they may contribute differently to the occurrence of specific clinical manifestations.
T1 0-153 Sentence denotes beta-galactosidase gene mutations affecting the lysosomal enzyme and the elastin-binding protein in GM1-gangliosidosis patients with cardiac involvement.
T2 154-260 Sentence denotes GM1-gangliosidosis is a lysosomal storage disorder caused by deficiency of acid beta-galactosidase (GLB1).
T3 261-394 Sentence denotes We report five new beta-galactosidase gene mutations in nine Italian patients and one fetus, segregating in seven unrelated families.
T4 395-551 Sentence denotes Six of the eight patients with the infantile, severe form of the disease presented cardiac involvement, a feature rarely associated with GM1-gangliosidosis.
T5 552-707 Sentence denotes Molecular analysis of the patients' RNA and DNA identified two new RNA splicing defects, three new and three previously described amino acid substitutions.
T6 708-839 Sentence denotes Interestingly, all patients with cardiac involvement were homozygous for one of these mutations: R59H, Y591C, Y591N, or IVS14-2A>G.
T7 840-966 Sentence denotes In contrast, all other patients were compound heterozygous for one of the following mutations: R201H, R482H, G579D, IVS8+2T>C.
T8 967-1277 Sentence denotes Although we could not directly correlate the presence of cardiac abnormalities with specific genetic lesions, the mutations identified in patients with cardiomyopathy fell in the GLB1 cDNA region common to the lysosomal enzyme and the Hbeta-Gal-related protein, also known as the elastin binding protein (EBP).
T9 1278-1428 Sentence denotes Consequently, both molecules are affected by the mutations, and they may contribute differently to the occurrence of specific clinical manifestations.

PubmedHPO

Id Subject Object Predicate Lexical cue
T1 478-497 HP_0001627 denotes cardiac involvement
T2 741-760 HP_0001627 denotes cardiac involvement
T3 1024-1045 HP_0001627 denotes cardiac abnormalities
T4 1119-1133 HP_0001638 denotes cardiomyopathy

DisGeNET5_gene_disease

Id Subject Object Predicate Lexical cue
10737981-0#0#18#gene2720 0-18 gene2720 denotes beta-galactosidase
10737981-0#73#80#gene2006 73-80 gene2006 denotes elastin
10737981-0#100#118#diseaseC0085131 100-118 diseaseC0085131 denotes GM1-gangliosidosis
10737981-7#179#183#gene2720 1146-1150 gene2720 denotes GLB1
10737981-7#280#287#gene2006 1247-1254 gene2006 denotes elastin
10737981-7#152#166#diseaseC0878544 1119-1133 diseaseC0878544 denotes cardiomyopathy
10737981-7#57#78#diseaseC0018798 1024-1045 diseaseC0018798 denotes cardiac abnormalities
10737981-7#152#166#diseaseC0878544 1119-1133 diseaseC0878544 denotes cardiomyopathy
0#18#gene2720100#118#diseaseC0085131 10737981-0#0#18#gene2720 10737981-0#100#118#diseaseC0085131 associated_with beta-galactosidase,GM1-gangliosidosis
73#80#gene2006100#118#diseaseC0085131 10737981-0#73#80#gene2006 10737981-0#100#118#diseaseC0085131 associated_with elastin,GM1-gangliosidosis
179#183#gene2720152#166#diseaseC0878544 10737981-7#179#183#gene2720 10737981-7#152#166#diseaseC0878544 associated_with GLB1,cardiomyopathy
179#183#gene272057#78#diseaseC0018798 10737981-7#179#183#gene2720 10737981-7#57#78#diseaseC0018798 associated_with GLB1,cardiac abnormalities
179#183#gene2720152#166#diseaseC0878544 10737981-7#179#183#gene2720 10737981-7#152#166#diseaseC0878544 associated_with GLB1,cardiomyopathy
280#287#gene2006152#166#diseaseC0878544 10737981-7#280#287#gene2006 10737981-7#152#166#diseaseC0878544 associated_with elastin,cardiomyopathy
280#287#gene200657#78#diseaseC0018798 10737981-7#280#287#gene2006 10737981-7#57#78#diseaseC0018798 associated_with elastin,cardiac abnormalities
280#287#gene2006152#166#diseaseC0878544 10737981-7#280#287#gene2006 10737981-7#152#166#diseaseC0878544 associated_with elastin,cardiomyopathy

PubCasesHPO

Id Subject Object Predicate Lexical cue
AB1 1119-1133 HP:0001638 denotes cardiomyopathy
AB2 1134-1138 HP:0002527 denotes fell

PubCasesORDO

Id Subject Object Predicate Lexical cue
AB1 154-172 ORDO:354 denotes GM1-gangliosidosis
TI1 100-118 ORDO:354 denotes GM1-gangliosidosis
AB2 532-550 ORDO:354 denotes GM1-gangliosidosis

NCBIDiseaseCorpus

Id Subject Object Predicate Lexical cue
T1 100-118 Modifier:D016537 denotes GM1-gangliosidosis
T2 133-152 SpecificDisease:D006331 denotes cardiac involvement
T3 154-172 SpecificDisease:D016537 denotes GM1-gangliosidosis
T4 178-204 DiseaseClass:D016464 denotes lysosomal storage disorder
T5 215-252 SpecificDisease:D016537 denotes deficiency of acid beta-galactosidase
T6 478-497 DiseaseClass:D006331 denotes cardiac involvement
T7 532-550 SpecificDisease:D016537 denotes GM1-gangliosidosis
T8 741-760 DiseaseClass:D006331 denotes cardiac involvement
T9 1024-1045 DiseaseClass:D018376 denotes cardiac abnormalities
T10 1060-1075 DiseaseClass:D020022 denotes genetic lesions
T11 1119-1133 DiseaseClass:D009202 denotes cardiomyopathy

DisGeNET

Id Subject Object Predicate Lexical cue
T0 1146-1150 gene:2720 denotes GLB1
T1 1024-1045 disease:C0018798 denotes cardiac abnormalities
T2 1146-1150 gene:2720 denotes GLB1
T3 1119-1133 disease:C0878544 denotes cardiomyopathy
T4 1247-1254 gene:2006 denotes elastin
T5 1024-1045 disease:C0018798 denotes cardiac abnormalities
T6 1247-1254 gene:2006 denotes elastin
T7 1119-1133 disease:C0878544 denotes cardiomyopathy
R1 T0 T1 associated_with GLB1,cardiac abnormalities
R2 T2 T3 associated_with GLB1,cardiomyopathy
R3 T4 T5 associated_with elastin,cardiac abnormalities
R4 T6 T7 associated_with elastin,cardiomyopathy

NCBI-Disease-Train

Id Subject Object Predicate Lexical cue database_id
T419 100-118 Modifier denotes GM1-gangliosidosis D016537
T420 133-152 SpecificDisease denotes cardiac involvement D006331
T421 154-172 SpecificDisease denotes GM1-gangliosidosis D016537
T422 178-204 DiseaseClass denotes lysosomal storage disorder D016464
T423 215-252 SpecificDisease denotes deficiency of acid beta-galactosidase D016537
T424 478-497 DiseaseClass denotes cardiac involvement D006331
T425 532-550 SpecificDisease denotes GM1-gangliosidosis D016537
T426 741-760 DiseaseClass denotes cardiac involvement D006331
T427 1024-1045 DiseaseClass denotes cardiac abnormalities D018376
T428 1060-1075 DiseaseClass denotes genetic lesions D020022
T429 1119-1133 DiseaseClass denotes cardiomyopathy D009202

NCBI-Disease-Corpus-All

Id Subject Object Predicate Lexical cue database_id
T419 100-118 Modifier denotes GM1-gangliosidosis D016537
T420 133-152 SpecificDisease denotes cardiac involvement D006331
T421 154-172 SpecificDisease denotes GM1-gangliosidosis D016537
T422 178-204 DiseaseClass denotes lysosomal storage disorder D016464
T423 215-252 SpecificDisease denotes deficiency of acid beta-galactosidase D016537
T424 478-497 DiseaseClass denotes cardiac involvement D006331
T425 532-550 SpecificDisease denotes GM1-gangliosidosis D016537
T426 741-760 DiseaseClass denotes cardiac involvement D006331
T427 1024-1045 DiseaseClass denotes cardiac abnormalities D018376
T428 1060-1075 DiseaseClass denotes genetic lesions D020022
T429 1119-1133 DiseaseClass denotes cardiomyopathy D009202

NCBI-Disease-Corpus-2stage-All

Id Subject Object Predicate Lexical cue
T1 100-118 SpecificDisease denotes GM1-gangliosidosis
T2 133-152 Modifier denotes cardiac involvement
T3 154-172 SpecificDisease denotes GM1-gangliosidosis
T4 478-497 Modifier denotes cardiac involvement
T5 532-550 SpecificDisease denotes GM1-gangliosidosis
T6 741-760 Modifier denotes cardiac involvement
T7 1024-1045 Modifier denotes cardiac abnormalities
T8 1119-1133 SpecificDisease denotes cardiomyopathy

NCBI-Disease-Corpus-rezarta-All

Id Subject Object Predicate Lexical cue
T1 100-118 Modifier denotes GM1-gangliosidosis
T2 154-172 SpecificDisease denotes GM1-gangliosidosis
T3 532-550 SpecificDisease denotes GM1-gangliosidosis
T4 1119-1133 SpecificDisease denotes cardiomyopathy

NCBI-Disease-Corpus-4oGuideline-All

Id Subject Object Predicate Lexical cue
T1 100-118 Modifier denotes GM1-gangliosidosis
T2 154-172 SpecificDisease denotes GM1-gangliosidosis
T3 430-467 Modifier denotes infantile, severe form of the disease
T4 532-550 SpecificDisease denotes GM1-gangliosidosis
T5 1119-1133 SpecificDisease denotes cardiomyopathy

NCBI-Disease-Corpus-Simple-All

Id Subject Object Predicate Lexical cue
T1 100-118 SpecificDisease denotes GM1-gangliosidosis
T2 133-152 CompositeMention denotes cardiac involvement
T3 154-172 SpecificDisease denotes GM1-gangliosidosis
T4 178-204 DiseaseClass denotes lysosomal storage disorder
T5 430-452 Modifier denotes infantile, severe form
T6 478-497 CompositeMention denotes cardiac involvement
T7 532-550 SpecificDisease denotes GM1-gangliosidosis
T8 741-760 CompositeMention denotes cardiac involvement
T9 1024-1045 CompositeMention denotes cardiac abnormalities
T10 1119-1133 SpecificDisease denotes cardiomyopathy