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PubMed:19451548 / 98-238 JSONTXT

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sentences

Id Subject Object Predicate Lexical cue
TextSentencer_T2 0-140 Sentence denotes We describe an ALG9-defective (congenital disorders of glycosylation type IL) patient who is homozygous for the p.Y286C (c.860A>G) mutation.
T2 0-140 Sentence denotes We describe an ALG9-defective (congenital disorders of glycosylation type IL) patient who is homozygous for the p.Y286C (c.860A>G) mutation.
T2 0-140 Sentence denotes We describe an ALG9-defective (congenital disorders of glycosylation type IL) patient who is homozygous for the p.Y286C (c.860A>G) mutation.

DisGeNET

Id Subject Object Predicate Lexical cue
T0 15-19 gene:79796 denotes ALG9
T1 31-68 disease:C0282577 denotes congenital disorders of glycosylation
R1 T0 T1 associated_with ALG9,congenital disorders of glycosylation

GlycoBiology-GDGDB

Id Subject Object Predicate Lexical cue
_T2 15-19 http://acgg.asia/db/diseases/gdgdb?con_ui=CON00354 denotes ALG9
_T6 31-73 http://acgg.asia/db/diseases/gdgdb?con_ui=CON00621 denotes congenital disorders of glycosylation type
_T7 31-73 http://acgg.asia/db/diseases/gdgdb?con_ui=CON00344 denotes congenital disorders of glycosylation type
_T8 31-73 http://acgg.asia/db/diseases/gdgdb?con_ui=CON00345 denotes congenital disorders of glycosylation type
_T9 31-73 http://acgg.asia/db/diseases/gdgdb?con_ui=CON00346 denotes congenital disorders of glycosylation type
_T10 31-73 http://acgg.asia/db/diseases/gdgdb?con_ui=CON00347 denotes congenital disorders of glycosylation type
_T11 31-73 http://acgg.asia/db/diseases/gdgdb?con_ui=CON00348 denotes congenital disorders of glycosylation type
_T12 31-73 http://acgg.asia/db/diseases/gdgdb?con_ui=CON00349 denotes congenital disorders of glycosylation type
_T13 31-73 http://acgg.asia/db/diseases/gdgdb?con_ui=CON00350 denotes congenital disorders of glycosylation type
_T14 31-73 http://acgg.asia/db/diseases/gdgdb?con_ui=CON00351 denotes congenital disorders of glycosylation type
_T15 31-73 http://acgg.asia/db/diseases/gdgdb?con_ui=CON00352 denotes congenital disorders of glycosylation type
_T16 31-73 http://acgg.asia/db/diseases/gdgdb?con_ui=CON00353 denotes congenital disorders of glycosylation type
_T17 31-73 http://acgg.asia/db/diseases/gdgdb?con_ui=CON00360 denotes congenital disorders of glycosylation type
_T18 31-73 http://acgg.asia/db/diseases/gdgdb?con_ui=CON00355 denotes congenital disorders of glycosylation type
_T19 31-73 http://acgg.asia/db/diseases/gdgdb?con_ui=CON00356 denotes congenital disorders of glycosylation type
_T20 31-73 http://acgg.asia/db/diseases/gdgdb?con_ui=CON00620 denotes congenital disorders of glycosylation type
_T21 31-73 http://acgg.asia/db/diseases/gdgdb?con_ui=CON00343 denotes congenital disorders of glycosylation type
_T22 31-73 http://acgg.asia/db/diseases/gdgdb?con_ui=CON00626 denotes congenital disorders of glycosylation type
_T23 31-73 http://acgg.asia/db/diseases/gdgdb?con_ui=CON00623 denotes congenital disorders of glycosylation type
_T24 31-73 http://acgg.asia/db/diseases/gdgdb?con_ui=CON00624 denotes congenital disorders of glycosylation type
_T25 31-73 http://acgg.asia/db/diseases/gdgdb?con_ui=CON00625 denotes congenital disorders of glycosylation type
_T26 31-73 http://acgg.asia/db/diseases/gdgdb?con_ui=CON00358 denotes congenital disorders of glycosylation type
_T27 31-73 http://acgg.asia/db/diseases/gdgdb?con_ui=CON00359 denotes congenital disorders of glycosylation type
_T28 31-73 http://acgg.asia/db/diseases/gdgdb?con_ui=CON00361 denotes congenital disorders of glycosylation type
_T29 31-73 http://acgg.asia/db/diseases/gdgdb?con_ui=CON00362 denotes congenital disorders of glycosylation type
_T30 31-73 http://acgg.asia/db/diseases/gdgdb?con_ui=CON00363 denotes congenital disorders of glycosylation type
_T31 31-73 http://acgg.asia/db/diseases/gdgdb?con_ui=CON00364 denotes congenital disorders of glycosylation type
_T32 31-73 http://acgg.asia/db/diseases/gdgdb?con_ui=CON00365 denotes congenital disorders of glycosylation type
_T33 31-73 http://acgg.asia/db/diseases/gdgdb?con_ui=CON00367 denotes congenital disorders of glycosylation type
_T34 31-73 http://acgg.asia/db/diseases/gdgdb?con_ui=CON00622 denotes congenital disorders of glycosylation type
_T35 31-76 http://acgg.asia/db/diseases/gdgdb?con_ui=CON00627 denotes congenital disorders of glycosylation type IL
_T36 31-76 http://acgg.asia/db/diseases/gdgdb?con_ui=CON00343 denotes congenital disorders of glycosylation type IL
_T37 31-76 http://acgg.asia/db/diseases/gdgdb?con_ui=CON00354 denotes congenital disorders of glycosylation type IL

uniprot-human

Id Subject Object Predicate Lexical cue
T2 15-19 http://www.uniprot.org/uniprot/Q9H6U8 denotes ALG9

GO-BP

Id Subject Object Predicate Lexical cue
T1 55-68 http://purl.obolibrary.org/obo/GO_0070085 denotes glycosylation

NGLY1-deficiency

Id Subject Object Predicate Lexical cue
PD-NGLY1-deficiency-B_T8 31-76 omim:615273 denotes congenital disorders of glycosylation type IL

DisGeNET5_variant_disease

Id Subject Object Predicate Lexical cue
19451548-1#121#129#geners121908023 121-129 geners121908023 denotes c.860A>G
19451548-1#112#119#geners121908023 112-119 geners121908023 denotes p.Y286C
19451548-1#31#68#diseaseC0282577 31-68 diseaseC0282577 denotes congenital disorders of glycosylation
121#129#geners12190802331#68#diseaseC0282577 19451548-1#121#129#geners121908023 19451548-1#31#68#diseaseC0282577 associated_with c.860A>G,congenital disorders of glycosylation
112#119#geners12190802331#68#diseaseC0282577 19451548-1#112#119#geners121908023 19451548-1#31#68#diseaseC0282577 associated_with p.Y286C,congenital disorders of glycosylation

DisGeNET5_gene_disease

Id Subject Object Predicate Lexical cue
19451548-1#15#19#gene79796 15-19 gene79796 denotes ALG9
19451548-1#31#68#diseaseC0282577 31-68 diseaseC0282577 denotes congenital disorders of glycosylation
15#19#gene7979631#68#diseaseC0282577 19451548-1#15#19#gene79796 19451548-1#31#68#diseaseC0282577 associated_with ALG9,congenital disorders of glycosylation

mondo_disease

Id Subject Object Predicate Lexical cue mondo_id
T2 31-76 Disease denotes congenital disorders of glycosylation type IL http://purl.obolibrary.org/obo/MONDO_0012117

NCBITAXON

Id Subject Object Predicate Lexical cue db_id
T2 78-85 OrganismTaxon denotes patient 9606