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PubMed:16361247 / 145-887 JSONTXT

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sentences

Id Subject Object Predicate Lexical cue
TextSentencer_T2 0-467 Sentence denotes Sialidosis and galactosialidosis are lysosomal storage diseases caused by the genetic defects of lysosomal sialidase (neuraminidase-1; NEU1) and lysosomal protective protein/cathepsin A (PPCA), respectively, associated with a NEU1 deficiency, excessive accumulation of sialylglycoconjugates, and development of progressive neurosomatic manifestations; in addition, the latter disorder is accompanied by simultaneous deficiencies of beta-galactosidase and cathepsin A.
TextSentencer_T3 468-742 Sentence denotes We demonstrated that a few soluble N-glycosylated proteins carrying sialyloligosaccharides sensitive to glycopeptidase F (GPF) can be specifically detected in cultured fibroblasts from sialidosis and galactosialidosis cases by blotting with a Maackia amurensis (MAM) lectin.
T2 0-742 Sentence denotes Sialidosis and galactosialidosis are lysosomal storage diseases caused by the genetic defects of lysosomal sialidase (neuraminidase-1; NEU1) and lysosomal protective protein/cathepsin A (PPCA), respectively, associated with a NEU1 deficiency, excessive accumulation of sialylglycoconjugates, and development of progressive neurosomatic manifestations; in addition, the latter disorder is accompanied by simultaneous deficiencies of beta-galactosidase and cathepsin A. We demonstrated that a few soluble N-glycosylated proteins carrying sialyloligosaccharides sensitive to glycopeptidase F (GPF) can be specifically detected in cultured fibroblasts from sialidosis and galactosialidosis cases by blotting with a Maackia amurensis (MAM) lectin.
T2 0-467 Sentence denotes Sialidosis and galactosialidosis are lysosomal storage diseases caused by the genetic defects of lysosomal sialidase (neuraminidase-1; NEU1) and lysosomal protective protein/cathepsin A (PPCA), respectively, associated with a NEU1 deficiency, excessive accumulation of sialylglycoconjugates, and development of progressive neurosomatic manifestations; in addition, the latter disorder is accompanied by simultaneous deficiencies of beta-galactosidase and cathepsin A.
T3 468-742 Sentence denotes We demonstrated that a few soluble N-glycosylated proteins carrying sialyloligosaccharides sensitive to glycopeptidase F (GPF) can be specifically detected in cultured fibroblasts from sialidosis and galactosialidosis cases by blotting with a Maackia amurensis (MAM) lectin.

GlycoBiology-GDGDB

Id Subject Object Predicate Lexical cue
_T1 135-139 http://acgg.asia/db/diseases/gdgdb?con_ui=CON00012 denotes NEU1
_T2 135-139 http://acgg.asia/db/diseases/gdgdb?con_ui=CON00013 denotes NEU1
_T3 135-139 http://acgg.asia/db/diseases/gdgdb?con_ui=CON00014 denotes NEU1
_T4 135-139 http://acgg.asia/db/diseases/gdgdb?con_ui=CON00015 denotes NEU1
_T5 135-139 http://acgg.asia/db/diseases/gdgdb?con_ui=CON00016 denotes NEU1
_T6 135-139 http://acgg.asia/db/diseases/gdgdb?con_ui=CON00017 denotes NEU1
_T7 226-230 http://acgg.asia/db/diseases/gdgdb?con_ui=CON00012 denotes NEU1
_T8 226-230 http://acgg.asia/db/diseases/gdgdb?con_ui=CON00013 denotes NEU1
_T9 226-230 http://acgg.asia/db/diseases/gdgdb?con_ui=CON00014 denotes NEU1
_T10 226-230 http://acgg.asia/db/diseases/gdgdb?con_ui=CON00015 denotes NEU1
_T11 226-230 http://acgg.asia/db/diseases/gdgdb?con_ui=CON00016 denotes NEU1
_T12 226-230 http://acgg.asia/db/diseases/gdgdb?con_ui=CON00017 denotes NEU1

uniprot-human

Id Subject Object Predicate Lexical cue
T1 97-116 http://www.uniprot.org/uniprot/Q99519 denotes lysosomal sialidase
T2 135-139 http://www.uniprot.org/uniprot/Q99519 denotes NEU1
T3 226-230 http://www.uniprot.org/uniprot/Q99519 denotes NEU1
T8 145-173 http://www.uniprot.org/uniprot/P10619 denotes lysosomal protective protein
T9 187-191 http://www.uniprot.org/uniprot/P10619 denotes PPCA
T11 455-466 http://www.uniprot.org/uniprot/P10619 denotes cathepsin A
T12 432-450 http://www.uniprot.org/uniprot/P16278 denotes beta-galactosidase

uniprot-mouse

Id Subject Object Predicate Lexical cue
T1 97-116 http://www.uniprot.org/uniprot/O35657 denotes lysosomal sialidase
T2 145-173 http://www.uniprot.org/uniprot/P16675 denotes lysosomal protective protein
T3 187-191 http://www.uniprot.org/uniprot/P16675 denotes PPCA
T5 455-466 http://www.uniprot.org/uniprot/P16675 denotes cathepsin A
T6 432-450 http://www.uniprot.org/uniprot/P23780 denotes beta-galactosidase

GlycoBiology-NCBITAXON

Id Subject Object Predicate Lexical cue
T1 432-436 http://purl.bioontology.org/ontology/NCBITAXON/3554 denotes beta
T2 432-436 http://purl.bioontology.org/ontology/NCBITAXON/158455 denotes beta
T3 711-718 http://purl.bioontology.org/ontology/NCBITAXON/37500 denotes Maackia
T4 711-728 http://purl.bioontology.org/ontology/NCBITAXON/37501 denotes Maackia amurensis

GO-BP

Id Subject Object Predicate Lexical cue
T1 47-54 http://purl.obolibrary.org/obo/GO_0051235 denotes storage
T2 47-54 http://purl.obolibrary.org/obo/GO_0035732 denotes storage
T3 296-307 http://purl.obolibrary.org/obo/GO_0032502 denotes development
T4 503-526 http://purl.obolibrary.org/obo/GO_0006487 denotes N-glycosylated proteins
T6 505-517 http://purl.obolibrary.org/obo/GO_0070085 denotes glycosylated
T8 505-526 http://purl.obolibrary.org/obo/GO_0006486 denotes glycosylated proteins
T10 559-568 http://purl.obolibrary.org/obo/GO_0046960 denotes sensitive

GO-CC

Id Subject Object Predicate Lexical cue
T1 37-46 http://purl.obolibrary.org/obo/GO_0005764 denotes lysosomal
T2 97-106 http://purl.obolibrary.org/obo/GO_0005764 denotes lysosomal
T3 145-154 http://purl.obolibrary.org/obo/GO_0005764 denotes lysosomal

EDAM-topics

Id Subject Object Predicate Lexical cue
T1 37-46 http://edamontology.org/topic_0616 denotes lysosomal
T2 55-63 http://edamontology.org/topic_0634 denotes diseases
T3 78-85 http://edamontology.org/topic_3053 denotes genetic
T4 97-106 http://edamontology.org/topic_0616 denotes lysosomal
T5 145-154 http://edamontology.org/topic_0616 denotes lysosomal
T6 166-173 http://edamontology.org/topic_0078 denotes protein
T7 518-526 http://edamontology.org/topic_0078 denotes proteins

EDAM-DFO

Id Subject Object Predicate Lexical cue
T2 155-173 http://edamontology.org/format_1219 denotes protective protein
T3 166-173 http://edamontology.org/format_1208 denotes protein
T4 166-173 http://edamontology.org/data_1467 denotes protein
T5 471-483 http://edamontology.org/operation_2246 denotes demonstrated
T6 518-526 http://edamontology.org/data_1467 denotes proteins
T7 518-526 http://edamontology.org/format_1208 denotes proteins
T8 615-623 http://edamontology.org/operation_2423 denotes detected

DisGeNET5_gene_disease

Id Subject Object Predicate Lexical cue
16361247-1#432#450#gene2720 432-450 gene2720 denotes beta-galactosidase
16361247-1#97#116#gene4758 97-116 gene4758 denotes lysosomal sialidase
16361247-1#118#133#gene4758 118-133 gene4758 denotes neuraminidase-1
16361247-1#135#139#gene4758 135-139 gene4758 denotes NEU1
16361247-1#145#173#gene5476 145-173 gene5476 denotes lysosomal protective protein
16361247-1#174#185#gene5476 174-185 gene5476 denotes cathepsin A
16361247-1#432#450#gene2720 432-450 gene2720 denotes beta-galactosidase
16361247-1#455#466#gene5476 455-466 gene5476 denotes cathepsin A
16361247-1#0#10#diseaseC0026697 0-10 diseaseC0026697 denotes Sialidosis
16361247-1#0#10#diseaseC0268226 0-10 diseaseC0268226 denotes Sialidosis
16361247-1#226#241#diseaseC0268228 226-241 diseaseC0268228 denotes NEU1 deficiency
16361247-1#15#32#diseaseC0268233 15-32 diseaseC0268233 denotes galactosialidosis
16361247-1#226#241#diseaseC0268228 226-241 diseaseC0268228 denotes NEU1 deficiency
16361247-1#15#32#diseaseC0268233 15-32 diseaseC0268233 denotes galactosialidosis
16361247-1#226#241#diseaseC0268228 226-241 diseaseC0268228 denotes NEU1 deficiency
16361247-1#15#32#diseaseC0268233 15-32 diseaseC0268233 denotes galactosialidosis
16361247-1#37#63#diseaseC0085078 37-63 diseaseC0085078 denotes lysosomal storage diseases
16361247-1#226#241#diseaseC0268228 226-241 diseaseC0268228 denotes NEU1 deficiency
16361247-1#15#32#diseaseC0268233 15-32 diseaseC0268233 denotes galactosialidosis
16361247-1#37#63#diseaseC0085078 37-63 diseaseC0085078 denotes lysosomal storage diseases
432#450#gene27200#10#diseaseC0026697 16361247-1#432#450#gene2720 16361247-1#0#10#diseaseC0026697 associated_with beta-galactosidase,Sialidosis
432#450#gene27200#10#diseaseC0268226 16361247-1#432#450#gene2720 16361247-1#0#10#diseaseC0268226 associated_with beta-galactosidase,Sialidosis
432#450#gene2720226#241#diseaseC0268228 16361247-1#432#450#gene2720 16361247-1#226#241#diseaseC0268228 associated_with beta-galactosidase,NEU1 deficiency
432#450#gene272015#32#diseaseC0268233 16361247-1#432#450#gene2720 16361247-1#15#32#diseaseC0268233 associated_with beta-galactosidase,galactosialidosis
432#450#gene2720226#241#diseaseC0268228 16361247-1#432#450#gene2720 16361247-1#226#241#diseaseC0268228 associated_with beta-galactosidase,NEU1 deficiency
432#450#gene272015#32#diseaseC0268233 16361247-1#432#450#gene2720 16361247-1#15#32#diseaseC0268233 associated_with beta-galactosidase,galactosialidosis
432#450#gene2720226#241#diseaseC0268228 16361247-1#432#450#gene2720 16361247-1#226#241#diseaseC0268228 associated_with beta-galactosidase,NEU1 deficiency
432#450#gene272015#32#diseaseC0268233 16361247-1#432#450#gene2720 16361247-1#15#32#diseaseC0268233 associated_with beta-galactosidase,galactosialidosis
432#450#gene272037#63#diseaseC0085078 16361247-1#432#450#gene2720 16361247-1#37#63#diseaseC0085078 associated_with beta-galactosidase,lysosomal storage diseases
432#450#gene2720226#241#diseaseC0268228 16361247-1#432#450#gene2720 16361247-1#226#241#diseaseC0268228 associated_with beta-galactosidase,NEU1 deficiency
432#450#gene272015#32#diseaseC0268233 16361247-1#432#450#gene2720 16361247-1#15#32#diseaseC0268233 associated_with beta-galactosidase,galactosialidosis
432#450#gene272037#63#diseaseC0085078 16361247-1#432#450#gene2720 16361247-1#37#63#diseaseC0085078 associated_with beta-galactosidase,lysosomal storage diseases
97#116#gene47580#10#diseaseC0026697 16361247-1#97#116#gene4758 16361247-1#0#10#diseaseC0026697 associated_with lysosomal sialidase,Sialidosis
97#116#gene47580#10#diseaseC0268226 16361247-1#97#116#gene4758 16361247-1#0#10#diseaseC0268226 associated_with lysosomal sialidase,Sialidosis
97#116#gene4758226#241#diseaseC0268228 16361247-1#97#116#gene4758 16361247-1#226#241#diseaseC0268228 associated_with lysosomal sialidase,NEU1 deficiency
97#116#gene475815#32#diseaseC0268233 16361247-1#97#116#gene4758 16361247-1#15#32#diseaseC0268233 associated_with lysosomal sialidase,galactosialidosis
97#116#gene4758226#241#diseaseC0268228 16361247-1#97#116#gene4758 16361247-1#226#241#diseaseC0268228 associated_with lysosomal sialidase,NEU1 deficiency
97#116#gene475815#32#diseaseC0268233 16361247-1#97#116#gene4758 16361247-1#15#32#diseaseC0268233 associated_with lysosomal sialidase,galactosialidosis
97#116#gene4758226#241#diseaseC0268228 16361247-1#97#116#gene4758 16361247-1#226#241#diseaseC0268228 associated_with lysosomal sialidase,NEU1 deficiency
97#116#gene475815#32#diseaseC0268233 16361247-1#97#116#gene4758 16361247-1#15#32#diseaseC0268233 associated_with lysosomal sialidase,galactosialidosis
97#116#gene475837#63#diseaseC0085078 16361247-1#97#116#gene4758 16361247-1#37#63#diseaseC0085078 associated_with lysosomal sialidase,lysosomal storage diseases
97#116#gene4758226#241#diseaseC0268228 16361247-1#97#116#gene4758 16361247-1#226#241#diseaseC0268228 associated_with lysosomal sialidase,NEU1 deficiency
97#116#gene475815#32#diseaseC0268233 16361247-1#97#116#gene4758 16361247-1#15#32#diseaseC0268233 associated_with lysosomal sialidase,galactosialidosis
97#116#gene475837#63#diseaseC0085078 16361247-1#97#116#gene4758 16361247-1#37#63#diseaseC0085078 associated_with lysosomal sialidase,lysosomal storage diseases
118#133#gene47580#10#diseaseC0026697 16361247-1#118#133#gene4758 16361247-1#0#10#diseaseC0026697 associated_with neuraminidase-1,Sialidosis
118#133#gene47580#10#diseaseC0268226 16361247-1#118#133#gene4758 16361247-1#0#10#diseaseC0268226 associated_with neuraminidase-1,Sialidosis
118#133#gene4758226#241#diseaseC0268228 16361247-1#118#133#gene4758 16361247-1#226#241#diseaseC0268228 associated_with neuraminidase-1,NEU1 deficiency
118#133#gene475815#32#diseaseC0268233 16361247-1#118#133#gene4758 16361247-1#15#32#diseaseC0268233 associated_with neuraminidase-1,galactosialidosis
118#133#gene4758226#241#diseaseC0268228 16361247-1#118#133#gene4758 16361247-1#226#241#diseaseC0268228 associated_with neuraminidase-1,NEU1 deficiency
118#133#gene475815#32#diseaseC0268233 16361247-1#118#133#gene4758 16361247-1#15#32#diseaseC0268233 associated_with neuraminidase-1,galactosialidosis
118#133#gene4758226#241#diseaseC0268228 16361247-1#118#133#gene4758 16361247-1#226#241#diseaseC0268228 associated_with neuraminidase-1,NEU1 deficiency
118#133#gene475815#32#diseaseC0268233 16361247-1#118#133#gene4758 16361247-1#15#32#diseaseC0268233 associated_with neuraminidase-1,galactosialidosis
118#133#gene475837#63#diseaseC0085078 16361247-1#118#133#gene4758 16361247-1#37#63#diseaseC0085078 associated_with neuraminidase-1,lysosomal storage diseases
118#133#gene4758226#241#diseaseC0268228 16361247-1#118#133#gene4758 16361247-1#226#241#diseaseC0268228 associated_with neuraminidase-1,NEU1 deficiency
118#133#gene475815#32#diseaseC0268233 16361247-1#118#133#gene4758 16361247-1#15#32#diseaseC0268233 associated_with neuraminidase-1,galactosialidosis
118#133#gene475837#63#diseaseC0085078 16361247-1#118#133#gene4758 16361247-1#37#63#diseaseC0085078 associated_with neuraminidase-1,lysosomal storage diseases
135#139#gene47580#10#diseaseC0026697 16361247-1#135#139#gene4758 16361247-1#0#10#diseaseC0026697 associated_with NEU1,Sialidosis
135#139#gene47580#10#diseaseC0268226 16361247-1#135#139#gene4758 16361247-1#0#10#diseaseC0268226 associated_with NEU1,Sialidosis
135#139#gene4758226#241#diseaseC0268228 16361247-1#135#139#gene4758 16361247-1#226#241#diseaseC0268228 associated_with NEU1,NEU1 deficiency
135#139#gene475815#32#diseaseC0268233 16361247-1#135#139#gene4758 16361247-1#15#32#diseaseC0268233 associated_with NEU1,galactosialidosis
135#139#gene4758226#241#diseaseC0268228 16361247-1#135#139#gene4758 16361247-1#226#241#diseaseC0268228 associated_with NEU1,NEU1 deficiency
135#139#gene475815#32#diseaseC0268233 16361247-1#135#139#gene4758 16361247-1#15#32#diseaseC0268233 associated_with NEU1,galactosialidosis
135#139#gene4758226#241#diseaseC0268228 16361247-1#135#139#gene4758 16361247-1#226#241#diseaseC0268228 associated_with NEU1,NEU1 deficiency
135#139#gene475815#32#diseaseC0268233 16361247-1#135#139#gene4758 16361247-1#15#32#diseaseC0268233 associated_with NEU1,galactosialidosis
135#139#gene475837#63#diseaseC0085078 16361247-1#135#139#gene4758 16361247-1#37#63#diseaseC0085078 associated_with NEU1,lysosomal storage diseases
135#139#gene4758226#241#diseaseC0268228 16361247-1#135#139#gene4758 16361247-1#226#241#diseaseC0268228 associated_with NEU1,NEU1 deficiency
135#139#gene475815#32#diseaseC0268233 16361247-1#135#139#gene4758 16361247-1#15#32#diseaseC0268233 associated_with NEU1,galactosialidosis
135#139#gene475837#63#diseaseC0085078 16361247-1#135#139#gene4758 16361247-1#37#63#diseaseC0085078 associated_with NEU1,lysosomal storage diseases
145#173#gene54760#10#diseaseC0026697 16361247-1#145#173#gene5476 16361247-1#0#10#diseaseC0026697 associated_with lysosomal protective protein,Sialidosis
145#173#gene54760#10#diseaseC0268226 16361247-1#145#173#gene5476 16361247-1#0#10#diseaseC0268226 associated_with lysosomal protective protein,Sialidosis
145#173#gene5476226#241#diseaseC0268228 16361247-1#145#173#gene5476 16361247-1#226#241#diseaseC0268228 associated_with lysosomal protective protein,NEU1 deficiency
145#173#gene547615#32#diseaseC0268233 16361247-1#145#173#gene5476 16361247-1#15#32#diseaseC0268233 associated_with lysosomal protective protein,galactosialidosis
145#173#gene5476226#241#diseaseC0268228 16361247-1#145#173#gene5476 16361247-1#226#241#diseaseC0268228 associated_with lysosomal protective protein,NEU1 deficiency
145#173#gene547615#32#diseaseC0268233 16361247-1#145#173#gene5476 16361247-1#15#32#diseaseC0268233 associated_with lysosomal protective protein,galactosialidosis
145#173#gene5476226#241#diseaseC0268228 16361247-1#145#173#gene5476 16361247-1#226#241#diseaseC0268228 associated_with lysosomal protective protein,NEU1 deficiency
145#173#gene547615#32#diseaseC0268233 16361247-1#145#173#gene5476 16361247-1#15#32#diseaseC0268233 associated_with lysosomal protective protein,galactosialidosis
145#173#gene547637#63#diseaseC0085078 16361247-1#145#173#gene5476 16361247-1#37#63#diseaseC0085078 associated_with lysosomal protective protein,lysosomal storage diseases
145#173#gene5476226#241#diseaseC0268228 16361247-1#145#173#gene5476 16361247-1#226#241#diseaseC0268228 associated_with lysosomal protective protein,NEU1 deficiency
145#173#gene547615#32#diseaseC0268233 16361247-1#145#173#gene5476 16361247-1#15#32#diseaseC0268233 associated_with lysosomal protective protein,galactosialidosis
145#173#gene547637#63#diseaseC0085078 16361247-1#145#173#gene5476 16361247-1#37#63#diseaseC0085078 associated_with lysosomal protective protein,lysosomal storage diseases
174#185#gene54760#10#diseaseC0026697 16361247-1#174#185#gene5476 16361247-1#0#10#diseaseC0026697 associated_with cathepsin A,Sialidosis
174#185#gene54760#10#diseaseC0268226 16361247-1#174#185#gene5476 16361247-1#0#10#diseaseC0268226 associated_with cathepsin A,Sialidosis
174#185#gene5476226#241#diseaseC0268228 16361247-1#174#185#gene5476 16361247-1#226#241#diseaseC0268228 associated_with cathepsin A,NEU1 deficiency
174#185#gene547615#32#diseaseC0268233 16361247-1#174#185#gene5476 16361247-1#15#32#diseaseC0268233 associated_with cathepsin A,galactosialidosis
174#185#gene5476226#241#diseaseC0268228 16361247-1#174#185#gene5476 16361247-1#226#241#diseaseC0268228 associated_with cathepsin A,NEU1 deficiency
174#185#gene547615#32#diseaseC0268233 16361247-1#174#185#gene5476 16361247-1#15#32#diseaseC0268233 associated_with cathepsin A,galactosialidosis
174#185#gene5476226#241#diseaseC0268228 16361247-1#174#185#gene5476 16361247-1#226#241#diseaseC0268228 associated_with cathepsin A,NEU1 deficiency
174#185#gene547615#32#diseaseC0268233 16361247-1#174#185#gene5476 16361247-1#15#32#diseaseC0268233 associated_with cathepsin A,galactosialidosis
174#185#gene547637#63#diseaseC0085078 16361247-1#174#185#gene5476 16361247-1#37#63#diseaseC0085078 associated_with cathepsin A,lysosomal storage diseases
174#185#gene5476226#241#diseaseC0268228 16361247-1#174#185#gene5476 16361247-1#226#241#diseaseC0268228 associated_with cathepsin A,NEU1 deficiency
174#185#gene547615#32#diseaseC0268233 16361247-1#174#185#gene5476 16361247-1#15#32#diseaseC0268233 associated_with cathepsin A,galactosialidosis
174#185#gene547637#63#diseaseC0085078 16361247-1#174#185#gene5476 16361247-1#37#63#diseaseC0085078 associated_with cathepsin A,lysosomal storage diseases
432#450#gene27200#10#diseaseC0026697 16361247-1#432#450#gene2720 16361247-1#0#10#diseaseC0026697 associated_with beta-galactosidase,Sialidosis
432#450#gene27200#10#diseaseC0268226 16361247-1#432#450#gene2720 16361247-1#0#10#diseaseC0268226 associated_with beta-galactosidase,Sialidosis
432#450#gene2720226#241#diseaseC0268228 16361247-1#432#450#gene2720 16361247-1#226#241#diseaseC0268228 associated_with beta-galactosidase,NEU1 deficiency
432#450#gene272015#32#diseaseC0268233 16361247-1#432#450#gene2720 16361247-1#15#32#diseaseC0268233 associated_with beta-galactosidase,galactosialidosis
432#450#gene2720226#241#diseaseC0268228 16361247-1#432#450#gene2720 16361247-1#226#241#diseaseC0268228 associated_with beta-galactosidase,NEU1 deficiency
432#450#gene272015#32#diseaseC0268233 16361247-1#432#450#gene2720 16361247-1#15#32#diseaseC0268233 associated_with beta-galactosidase,galactosialidosis
432#450#gene2720226#241#diseaseC0268228 16361247-1#432#450#gene2720 16361247-1#226#241#diseaseC0268228 associated_with beta-galactosidase,NEU1 deficiency
432#450#gene272015#32#diseaseC0268233 16361247-1#432#450#gene2720 16361247-1#15#32#diseaseC0268233 associated_with beta-galactosidase,galactosialidosis
432#450#gene272037#63#diseaseC0085078 16361247-1#432#450#gene2720 16361247-1#37#63#diseaseC0085078 associated_with beta-galactosidase,lysosomal storage diseases
432#450#gene2720226#241#diseaseC0268228 16361247-1#432#450#gene2720 16361247-1#226#241#diseaseC0268228 associated_with beta-galactosidase,NEU1 deficiency
432#450#gene272015#32#diseaseC0268233 16361247-1#432#450#gene2720 16361247-1#15#32#diseaseC0268233 associated_with beta-galactosidase,galactosialidosis
432#450#gene272037#63#diseaseC0085078 16361247-1#432#450#gene2720 16361247-1#37#63#diseaseC0085078 associated_with beta-galactosidase,lysosomal storage diseases
455#466#gene54760#10#diseaseC0026697 16361247-1#455#466#gene5476 16361247-1#0#10#diseaseC0026697 associated_with cathepsin A,Sialidosis
455#466#gene54760#10#diseaseC0268226 16361247-1#455#466#gene5476 16361247-1#0#10#diseaseC0268226 associated_with cathepsin A,Sialidosis
455#466#gene5476226#241#diseaseC0268228 16361247-1#455#466#gene5476 16361247-1#226#241#diseaseC0268228 associated_with cathepsin A,NEU1 deficiency
455#466#gene547615#32#diseaseC0268233 16361247-1#455#466#gene5476 16361247-1#15#32#diseaseC0268233 associated_with cathepsin A,galactosialidosis
455#466#gene5476226#241#diseaseC0268228 16361247-1#455#466#gene5476 16361247-1#226#241#diseaseC0268228 associated_with cathepsin A,NEU1 deficiency
455#466#gene547615#32#diseaseC0268233 16361247-1#455#466#gene5476 16361247-1#15#32#diseaseC0268233 associated_with cathepsin A,galactosialidosis
455#466#gene5476226#241#diseaseC0268228 16361247-1#455#466#gene5476 16361247-1#226#241#diseaseC0268228 associated_with cathepsin A,NEU1 deficiency
455#466#gene547615#32#diseaseC0268233 16361247-1#455#466#gene5476 16361247-1#15#32#diseaseC0268233 associated_with cathepsin A,galactosialidosis
455#466#gene547637#63#diseaseC0085078 16361247-1#455#466#gene5476 16361247-1#37#63#diseaseC0085078 associated_with cathepsin A,lysosomal storage diseases
455#466#gene5476226#241#diseaseC0268228 16361247-1#455#466#gene5476 16361247-1#226#241#diseaseC0268228 associated_with cathepsin A,NEU1 deficiency
455#466#gene547615#32#diseaseC0268233 16361247-1#455#466#gene5476 16361247-1#15#32#diseaseC0268233 associated_with cathepsin A,galactosialidosis
455#466#gene547637#63#diseaseC0085078 16361247-1#455#466#gene5476 16361247-1#37#63#diseaseC0085078 associated_with cathepsin A,lysosomal storage diseases

GlycoBiology-MAT

Id Subject Object Predicate Lexical cue
T1 369-375 http://purl.obolibrary.org/obo/MAT_0000488 denotes latter

Lectin

Id Subject Object Predicate Lexical cue
Lectin_T1 730-733 https://acgg.asia/db/lfdb/LfDB0228 denotes MAM

DisGeNET

Id Subject Object Predicate Lexical cue
T0 97-116 gene:4758 denotes lysosomal sialidase
T1 15-32 disease:C0268233 denotes galactosialidosis
T2 97-116 gene:4758 denotes lysosomal sialidase
T3 37-63 disease:C0085078 denotes lysosomal storage diseases
T4 97-116 gene:4758 denotes lysosomal sialidase
T5 226-241 disease:C0268228 denotes NEU1 deficiency
T6 135-139 gene:4758 denotes NEU1
T7 15-32 disease:C0268233 denotes galactosialidosis
T8 135-139 gene:51162 denotes NEU1
T9 15-32 disease:C0268233 denotes galactosialidosis
T10 135-139 gene:4758 denotes NEU1
T11 37-63 disease:C0085078 denotes lysosomal storage diseases
T12 135-139 gene:51162 denotes NEU1
T13 37-63 disease:C0085078 denotes lysosomal storage diseases
T14 135-139 gene:4758 denotes NEU1
T15 226-241 disease:C0268228 denotes NEU1 deficiency
T16 135-139 gene:51162 denotes NEU1
T17 226-241 disease:C0268228 denotes NEU1 deficiency
T18 145-173 gene:5476 denotes lysosomal protective protein
T19 15-32 disease:C0268233 denotes galactosialidosis
T20 145-173 gene:5476 denotes lysosomal protective protein
T21 226-241 disease:C0268228 denotes NEU1 deficiency
T22 174-185 gene:5476 denotes cathepsin A
T23 15-32 disease:C0268233 denotes galactosialidosis
T24 455-466 gene:5476 denotes cathepsin A
T25 226-241 disease:C0268228 denotes NEU1 deficiency
T26 432-450 gene:2720 denotes beta-galactosidase
T27 15-32 disease:C0268233 denotes galactosialidosis
T28 432-450 gene:2720 denotes beta-galactosidase
T29 37-63 disease:C0085078 denotes lysosomal storage diseases
T30 432-450 gene:2720 denotes beta-galactosidase
T31 226-241 disease:C0268228 denotes NEU1 deficiency
T32 455-466 gene:5476 denotes cathepsin A
T33 15-32 disease:C0268233 denotes galactosialidosis
T34 455-466 gene:5476 denotes cathepsin A
T35 37-63 disease:C0085078 denotes lysosomal storage diseases
T36 174-185 gene:5476 denotes cathepsin A
T37 226-241 disease:C0268228 denotes NEU1 deficiency
R1 T0 T1 associated_with lysosomal sialidase,galactosialidosis
R2 T2 T3 associated_with lysosomal sialidase,lysosomal storage diseases
R3 T4 T5 associated_with lysosomal sialidase,NEU1 deficiency
R4 T6 T7 associated_with NEU1,galactosialidosis
R5 T8 T9 associated_with NEU1,galactosialidosis
R6 T10 T11 associated_with NEU1,lysosomal storage diseases
R7 T12 T13 associated_with NEU1,lysosomal storage diseases
R8 T14 T15 associated_with NEU1,NEU1 deficiency
R9 T16 T17 associated_with NEU1,NEU1 deficiency
R10 T18 T19 associated_with lysosomal protective protein,galactosialidosis
R11 T20 T21 associated_with lysosomal protective protein,NEU1 deficiency
R12 T22 T23 associated_with cathepsin A,galactosialidosis
R13 T24 T25 associated_with cathepsin A,NEU1 deficiency
R14 T26 T27 associated_with beta-galactosidase,galactosialidosis
R15 T28 T29 associated_with beta-galactosidase,lysosomal storage diseases
R16 T30 T31 associated_with beta-galactosidase,NEU1 deficiency
R17 T32 T33 associated_with cathepsin A,galactosialidosis
R18 T34 T35 associated_with cathepsin A,lysosomal storage diseases
R19 T36 T37 associated_with cathepsin A,NEU1 deficiency

mondo_disease

Id Subject Object Predicate Lexical cue mondo_id
T3 0-10 Disease denotes Sialidosis http://purl.obolibrary.org/obo/MONDO_0017734
T4 15-32 Disease denotes galactosialidosis http://purl.obolibrary.org/obo/MONDO_0009737
T5 37-63 Disease denotes lysosomal storage diseases http://purl.obolibrary.org/obo/MONDO_0002561
T6 226-241 Disease denotes NEU1 deficiency http://purl.obolibrary.org/obo/MONDO_0009738
T7 416-450 Disease denotes deficiencies of beta-galactosidase http://purl.obolibrary.org/obo/MONDO_0018149
T8 653-663 Disease denotes sialidosis http://purl.obolibrary.org/obo/MONDO_0017734
T9 668-685 Disease denotes galactosialidosis http://purl.obolibrary.org/obo/MONDO_0009737

Lectin-Jamboree

Id Subject Object Predicate Lexical cue
T1 735-741 lectin denotes lectin

Lectin-Jamboree-small

Id Subject Object Predicate Lexical cue glycosmos_id
T1 730-733 Lectin denotes MAM GL_001868

Lectin-Jamboree-Sentence

Id Subject Object Predicate Lexical cue
T2 0-742 Sentence denotes Sialidosis and galactosialidosis are lysosomal storage diseases caused by the genetic defects of lysosomal sialidase (neuraminidase-1; NEU1) and lysosomal protective protein/cathepsin A (PPCA), respectively, associated with a NEU1 deficiency, excessive accumulation of sialylglycoconjugates, and development of progressive neurosomatic manifestations; in addition, the latter disorder is accompanied by simultaneous deficiencies of beta-galactosidase and cathepsin A. We demonstrated that a few soluble N-glycosylated proteins carrying sialyloligosaccharides sensitive to glycopeptidase F (GPF) can be specifically detected in cultured fibroblasts from sialidosis and galactosialidosis cases by blotting with a Maackia amurensis (MAM) lectin.

NCBITAXON

Id Subject Object Predicate Lexical cue db_id
T1 711-728 OrganismTaxon denotes Maackia amurensis 37501
T2 730-733 OrganismTaxon denotes MAM 37501

Anatomy-UBERON

Id Subject Object Predicate Lexical cue uberon_id
T2 636-647 Body_part denotes fibroblasts http://purl.obolibrary.org/obo/CL_0000057

CL-cell

Id Subject Object Predicate Lexical cue cl_id
T2 636-647 Cell denotes fibroblasts http://purl.obolibrary.org/obo/CL:0000057