PubMed:19451548 / 98-238 JSONTXT

{"project":"sentences","denotations":[{"id":"TextSentencer_T2","span":{"begin":0,"end":140},"obj":"Sentence"},{"id":"T2","span":{"begin":0,"end":140},"obj":"Sentence"},{"id":"T2","span":{"begin":0,"end":140},"obj":"Sentence"}],"namespaces":[{"prefix":"_base","uri":"http://pubannotation.org/ontology/tao.owl#"}],"text":"We describe an ALG9-defective (congenital disorders of glycosylation type IL) patient who is homozygous for the p.Y286C (c.860A\u003eG) mutation."}

{"project":"DisGeNET","denotations":[{"id":"T0","span":{"begin":15,"end":19},"obj":"gene:79796"},{"id":"T1","span":{"begin":31,"end":68},"obj":"disease:C0282577"}],"relations":[{"id":"R1","pred":"associated_with","subj":"T0","obj":"T1"}],"namespaces":[{"prefix":"gene","uri":"http://www.ncbi.nlm.nih.gov/gene/"},{"prefix":"disease","uri":"http://purl.bioontology.org/ontology/MEDLINEPLUS/"}],"text":"We describe an ALG9-defective (congenital disorders of glycosylation type IL) patient who is homozygous for the p.Y286C (c.860A\u003eG) mutation."}

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{"project":"uniprot-human","denotations":[{"id":"T2","span":{"begin":15,"end":19},"obj":"http://www.uniprot.org/uniprot/Q9H6U8"}],"text":"We describe an ALG9-defective (congenital disorders of glycosylation type IL) patient who is homozygous for the p.Y286C (c.860A\u003eG) mutation."}

{"project":"GO-BP","denotations":[{"id":"T1","span":{"begin":55,"end":68},"obj":"http://purl.obolibrary.org/obo/GO_0070085"}],"text":"We describe an ALG9-defective (congenital disorders of glycosylation type IL) patient who is homozygous for the p.Y286C (c.860A\u003eG) mutation."}

{"project":"NGLY1-deficiency","denotations":[{"id":"PD-NGLY1-deficiency-B_T8","span":{"begin":31,"end":76},"obj":"omim:615273"}],"namespaces":[{"prefix":"hgnc","uri":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:"},{"prefix":"omim","uri":"https://www.omim.org/entry/"},{"prefix":"chem","uri":"https://pubchem.ncbi.nlm.nih.gov/compound/"}],"text":"We describe an ALG9-defective (congenital disorders of glycosylation type IL) patient who is homozygous for the p.Y286C (c.860A\u003eG) mutation."}

{"project":"DisGeNET5_variant_disease","denotations":[{"id":"19451548-1#121#129#geners121908023","span":{"begin":121,"end":129},"obj":"geners121908023"},{"id":"19451548-1#112#119#geners121908023","span":{"begin":112,"end":119},"obj":"geners121908023"},{"id":"19451548-1#31#68#diseaseC0282577","span":{"begin":31,"end":68},"obj":"diseaseC0282577"}],"relations":[{"id":"121#129#geners12190802331#68#diseaseC0282577","pred":"associated_with","subj":"19451548-1#121#129#geners121908023","obj":"19451548-1#31#68#diseaseC0282577"},{"id":"112#119#geners12190802331#68#diseaseC0282577","pred":"associated_with","subj":"19451548-1#112#119#geners121908023","obj":"19451548-1#31#68#diseaseC0282577"}],"text":"We describe an ALG9-defective (congenital disorders of glycosylation type IL) patient who is homozygous for the p.Y286C (c.860A\u003eG) mutation."}

{"project":"DisGeNET5_gene_disease","denotations":[{"id":"19451548-1#15#19#gene79796","span":{"begin":15,"end":19},"obj":"gene79796"},{"id":"19451548-1#31#68#diseaseC0282577","span":{"begin":31,"end":68},"obj":"diseaseC0282577"}],"relations":[{"id":"15#19#gene7979631#68#diseaseC0282577","pred":"associated_with","subj":"19451548-1#15#19#gene79796","obj":"19451548-1#31#68#diseaseC0282577"}],"text":"We describe an ALG9-defective (congenital disorders of glycosylation type IL) patient who is homozygous for the p.Y286C (c.860A\u003eG) mutation."}

{"project":"mondo_disease","denotations":[{"id":"T2","span":{"begin":31,"end":76},"obj":"Disease"}],"attributes":[{"id":"A2","pred":"mondo_id","subj":"T2","obj":"http://purl.obolibrary.org/obo/MONDO_0012117"}],"text":"We describe an ALG9-defective (congenital disorders of glycosylation type IL) patient who is homozygous for the p.Y286C (c.860A\u003eG) mutation."}

{"project":"NCBITAXON","denotations":[{"id":"T2","span":{"begin":78,"end":85},"obj":"OrganismTaxon"}],"attributes":[{"id":"A2","pred":"db_id","subj":"T2","obj":"9606"}],"text":"We describe an ALG9-defective (congenital disorders of glycosylation type IL) patient who is homozygous for the p.Y286C (c.860A\u003eG) mutation."}