> top > docs > PubMed:15229394 > annotations

PubMed:15229394 JSONTXT

Annnotations TAB JSON ListView MergeView

sentences

Id Subject Object Predicate Lexical cue
TextSentencer_T1 0-69 Sentence denotes The role of defective glycosylation in congenital muscular dystrophy.
TextSentencer_T2 70-188 Sentence denotes The dystrophin glycoprotein complex (DGC) is an assembly of proteins spanning the sarcolemma of skeletal muscle cells.
TextSentencer_T3 189-322 Sentence denotes Defects in the DGC appear to play critical roles in several muscular dystrophies due to disruption of basement membrane organization.
TextSentencer_T4 323-614 Sentence denotes O -mannosyl oligosaccharides on alpha-dystroglycan, a major extracellular component of the DGC, are essential for normal binding of alpha-dystroglycan to ligands (such as laminin) in the extracellular matrix and subsequent signal transmission to actin in the cytoskeleton of the muscle cell.
TextSentencer_T5 615-783 Sentence denotes Muscle-Eye-Brain disease (MEB) and Walker-Warburg Syndrome (WWS) have mutations in genes encoding glycosyltransferases needed for O -mannosyl oligosaccharide synthesis.
TextSentencer_T6 784-1006 Sentence denotes Myodystrophic myd mice and humans with Fukuyama Congenital Muscular Dystrophy (FCMD), congenital muscular dystrophy due to defective fukutin-related protein (FKRP) and MDC1D have mutations in putative glycosyltransferases.
TextSentencer_T7 1007-1135 Sentence denotes These human congenital muscular dystrophies and the myd mouse are associated with defective glycosylation of alpha-dystroglycan.
TextSentencer_T8 1136-1253 Sentence denotes It is expected other congenital muscular dystrophies will prove to have mutations in genes involved in glycosylation.
T1 0-69 Sentence denotes The role of defective glycosylation in congenital muscular dystrophy.
T2 70-188 Sentence denotes The dystrophin glycoprotein complex (DGC) is an assembly of proteins spanning the sarcolemma of skeletal muscle cells.
T3 189-322 Sentence denotes Defects in the DGC appear to play critical roles in several muscular dystrophies due to disruption of basement membrane organization.
T4 323-614 Sentence denotes O -mannosyl oligosaccharides on alpha-dystroglycan, a major extracellular component of the DGC, are essential for normal binding of alpha-dystroglycan to ligands (such as laminin) in the extracellular matrix and subsequent signal transmission to actin in the cytoskeleton of the muscle cell.
T5 615-783 Sentence denotes Muscle-Eye-Brain disease (MEB) and Walker-Warburg Syndrome (WWS) have mutations in genes encoding glycosyltransferases needed for O -mannosyl oligosaccharide synthesis.
T6 784-1006 Sentence denotes Myodystrophic myd mice and humans with Fukuyama Congenital Muscular Dystrophy (FCMD), congenital muscular dystrophy due to defective fukutin-related protein (FKRP) and MDC1D have mutations in putative glycosyltransferases.
T7 1007-1135 Sentence denotes These human congenital muscular dystrophies and the myd mouse are associated with defective glycosylation of alpha-dystroglycan.
T8 1136-1253 Sentence denotes It is expected other congenital muscular dystrophies will prove to have mutations in genes involved in glycosylation.

Glycosmos6-MAT

Id Subject Object Predicate Lexical cue
T1 166-181 http://purl.obolibrary.org/obo/MAT_0000302 denotes skeletal muscle
T2 175-181 http://purl.obolibrary.org/obo/MAT_0000025 denotes muscle
T3 602-608 http://purl.obolibrary.org/obo/MAT_0000025 denotes muscle
T4 615-621 http://purl.obolibrary.org/obo/MAT_0000025 denotes Muscle
T5 622-625 http://purl.obolibrary.org/obo/MAT_0000140 denotes Eye
T6 626-631 http://purl.obolibrary.org/obo/MAT_0000098 denotes Brain

DisGeNET5_gene_disease

Id Subject Object Predicate Lexical cue
15229394-5#168#173#gene9215 952-957 gene9215 denotes MDC1D
15229394-5#86#115#diseaseC0699743 870-899 diseaseC0699743 denotes congenital muscular dystrophy
15229394-6#109#127#gene1605 1116-1134 gene1605 denotes alpha-dystroglycan
15229394-6#23#43#diseaseC0026850 1030-1050 diseaseC0026850 denotes muscular dystrophies
168#173#gene921586#115#diseaseC0699743 15229394-5#168#173#gene9215 15229394-5#86#115#diseaseC0699743 associated_with MDC1D,congenital muscular dystrophy
109#127#gene160523#43#diseaseC0026850 15229394-6#109#127#gene1605 15229394-6#23#43#diseaseC0026850 associated_with alpha-dystroglycan,muscular dystrophies

DisGeNET

Id Subject Object Predicate Lexical cue
T0 917-940 gene:79147 denotes fukutin-related protein
T1 823-861 disease:C0410174 denotes Fukuyama Congenital Muscular Dystrophy
T2 917-940 gene:79147 denotes fukutin-related protein
T3 870-899 disease:C0699743 denotes congenital muscular dystrophy
T4 942-946 gene:79147 denotes FKRP
T5 823-861 disease:C0410174 denotes Fukuyama Congenital Muscular Dystrophy
T6 952-957 gene:9215 denotes MDC1D
T7 863-867 disease:C0410174 denotes FCMD
T8 952-957 gene:9215 denotes MDC1D
T9 823-861 disease:C0410174 denotes Fukuyama Congenital Muscular Dystrophy
T10 942-946 gene:79147 denotes FKRP
T11 863-867 disease:C0410174 denotes FCMD
T12 1116-1134 gene:1605 denotes alpha-dystroglycan
T13 1030-1050 disease:C0026850 denotes muscular dystrophies
R1 T0 T1 associated_with fukutin-related protein,Fukuyama Congenital Muscular Dystrophy
R2 T2 T3 associated_with fukutin-related protein,congenital muscular dystrophy
R3 T4 T5 associated_with FKRP,Fukuyama Congenital Muscular Dystrophy
R4 T6 T7 associated_with MDC1D,FCMD
R5 T8 T9 associated_with MDC1D,Fukuyama Congenital Muscular Dystrophy
R6 T10 T11 associated_with FKRP,FCMD
R7 T12 T13 associated_with alpha-dystroglycan,muscular dystrophies

HP-phenotype

Id Subject Object Predicate Lexical cue hp_id
T1 39-68 Phenotype denotes congenital muscular dystrophy HP:0003560
T2 249-269 Phenotype denotes muscular dystrophies HP:0003560
T3 843-861 Phenotype denotes Muscular Dystrophy HP:0003560
T4 870-899 Phenotype denotes congenital muscular dystrophy HP:0003560
T5 1019-1050 Phenotype denotes congenital muscular dystrophies HP:0003560
T6 1157-1188 Phenotype denotes congenital muscular dystrophies HP:0003560

mondo_disease

Id Subject Object Predicate Lexical cue mondo_id
T1 39-68 Disease denotes congenital muscular dystrophy http://purl.obolibrary.org/obo/MONDO_0019950
T2 249-269 Disease denotes muscular dystrophies http://purl.obolibrary.org/obo/MONDO_0020121
T3 615-639 Disease denotes Muscle-Eye-Brain disease http://purl.obolibrary.org/obo/MONDO_0018939
T4 641-644 Disease denotes MEB http://purl.obolibrary.org/obo/MONDO_0018939
T5 650-673 Disease denotes Walker-Warburg Syndrome http://purl.obolibrary.org/obo/MONDO_0019523
T6 675-678 Disease denotes WWS http://purl.obolibrary.org/obo/MONDO_0019523
T7 823-861 Disease denotes Fukuyama Congenital Muscular Dystrophy http://purl.obolibrary.org/obo/MONDO_0009678
T8 863-867 Disease denotes FCMD http://purl.obolibrary.org/obo/MONDO_0009678|http://purl.obolibrary.org/obo/MONDO_0023204
T10 870-899 Disease denotes congenital muscular dystrophy http://purl.obolibrary.org/obo/MONDO_0019950
T11 952-957 Disease denotes MDC1D http://purl.obolibrary.org/obo/MONDO_0012138
T12 1019-1050 Disease denotes congenital muscular dystrophies http://purl.obolibrary.org/obo/MONDO_0019950
T13 1157-1188 Disease denotes congenital muscular dystrophies http://purl.obolibrary.org/obo/MONDO_0019950

NCBITAXON

Id Subject Object Predicate Lexical cue db_id
T1 802-806 OrganismTaxon denotes mice 10088
T2 1013-1018 OrganismTaxon denotes human 9606
T3 1063-1068 OrganismTaxon denotes mouse 10088|10090

Anatomy-UBERON

Id Subject Object Predicate Lexical cue uberon_id
T1 166-187 Body_part denotes skeletal muscle cells http://purl.obolibrary.org/obo/CL_0000188
T2 291-308 Body_part denotes basement membrane http://purl.obolibrary.org/obo/GO_0005604|http://purl.obolibrary.org/obo/UBERON_0005769
T4 383-396 Body_part denotes extracellular http://purl.obolibrary.org/obo/GO_0005576
T5 510-530 Body_part denotes extracellular matrix http://purl.obolibrary.org/obo/GO_0031012
T6 569-594 Body_part denotes actin in the cytoskeleton http://purl.obolibrary.org/obo/GO_0015629
T7 602-613 Body_part denotes muscle cell http://purl.obolibrary.org/obo/CL_0000187
T8 615-621 Body_part denotes Muscle http://purl.obolibrary.org/obo/UBERON_0001630|http://purl.obolibrary.org/obo/UBERON_0005090
T10 626-631 Body_part denotes Brain http://purl.obolibrary.org/obo/UBERON_0000955|http://purl.obolibrary.org/obo/UBERON_6110636

Anatomy-MAT

Id Subject Object Predicate Lexical cue mat_id
T1 166-181 Body_part denotes skeletal muscle http://purl.obolibrary.org/obo/MAT_0000302
T2 602-608 Body_part denotes muscle http://purl.obolibrary.org/obo/MAT_0000025
T3 615-621 Body_part denotes Muscle http://purl.obolibrary.org/obo/MAT_0000025
T4 622-625 Body_part denotes Eye http://purl.obolibrary.org/obo/MAT_0000140
T5 626-631 Body_part denotes Brain http://purl.obolibrary.org/obo/MAT_0000098

CL-cell

Id Subject Object Predicate Lexical cue cl_id
T1 166-187 Cell denotes skeletal muscle cells http://purl.obolibrary.org/obo/CL:0000188
T2 602-613 Cell denotes muscle cell http://purl.obolibrary.org/obo/CL:0000187