PubMed:15471865 / 447-600 JSONTXT

{"project":"Glycosmos6-MAT","denotations":[{"id":"T5","span":{"begin":42,"end":50},"obj":"http://purl.obolibrary.org/obo/MAT_0000491"}],"text":"Homozygous point mutations in NBCe1 cause proximal renal tubular acidosis (pRTA), glaucoma, and cataracts (Igarashi, T., Inatomi, J., Sekine, T., Cha, S."}

{"project":"DisGeNET5_gene_disease","denotations":[{"id":"15471865-3#30#35#gene8671","span":{"begin":30,"end":35},"obj":"gene8671"},{"id":"15471865-3#96#105#diseaseC0086543","span":{"begin":96,"end":105},"obj":"diseaseC0086543"},{"id":"15471865-3#96#105#diseaseC0521707","span":{"begin":96,"end":105},"obj":"diseaseC0521707"}],"relations":[{"id":"30#35#gene867196#105#diseaseC0086543","pred":"associated_with","subj":"15471865-3#30#35#gene8671","obj":"15471865-3#96#105#diseaseC0086543"},{"id":"30#35#gene867196#105#diseaseC0521707","pred":"associated_with","subj":"15471865-3#30#35#gene8671","obj":"15471865-3#96#105#diseaseC0521707"}],"text":"Homozygous point mutations in NBCe1 cause proximal renal tubular acidosis (pRTA), glaucoma, and cataracts (Igarashi, T., Inatomi, J., Sekine, T., Cha, S."}

{"project":"PubCasesHPO","denotations":[{"id":"AB1","span":{"begin":42,"end":73},"obj":"HP:0002049"},{"id":"AB2","span":{"begin":82,"end":90},"obj":"HP:0000501"},{"id":"AB3","span":{"begin":96,"end":105},"obj":"HP:0000518"}],"text":"Homozygous point mutations in NBCe1 cause proximal renal tubular acidosis (pRTA), glaucoma, and cataracts (Igarashi, T., Inatomi, J., Sekine, T., Cha, S."}

{"project":"PubCasesORDO","denotations":[{"id":"AB1","span":{"begin":42,"end":73},"obj":"ORDO:47159"},{"id":"AB2","span":{"begin":75,"end":79},"obj":"ORDO:47159"}],"namespaces":[{"prefix":"ORDO","uri":"http://www.orpha.net/ORDO/Orphanet_"}],"text":"Homozygous point mutations in NBCe1 cause proximal renal tubular acidosis (pRTA), glaucoma, and cataracts (Igarashi, T., Inatomi, J., Sekine, T., Cha, S."}

{"project":"sentences","denotations":[{"id":"TextSentencer_T4","span":{"begin":0,"end":153},"obj":"Sentence"},{"id":"T4","span":{"begin":0,"end":153},"obj":"Sentence"}],"namespaces":[{"prefix":"_base","uri":"http://pubannotation.org/ontology/tao.owl#"}],"text":"Homozygous point mutations in NBCe1 cause proximal renal tubular acidosis (pRTA), glaucoma, and cataracts (Igarashi, T., Inatomi, J., Sekine, T., Cha, S."}

{"project":"DisGeNET","denotations":[{"id":"T4","span":{"begin":30,"end":35},"obj":"gene:8671"},{"id":"T5","span":{"begin":96,"end":105},"obj":"disease:C0521707"},{"id":"T6","span":{"begin":30,"end":35},"obj":"gene:8671"},{"id":"T7","span":{"begin":96,"end":105},"obj":"disease:C0086543"},{"id":"T8","span":{"begin":30,"end":35},"obj":"gene:8671"},{"id":"T9","span":{"begin":75,"end":79},"obj":"disease:C0268435"},{"id":"T10","span":{"begin":30,"end":35},"obj":"gene:8671"},{"id":"T11","span":{"begin":42,"end":73},"obj":"disease:C0268435"}],"relations":[{"id":"R3","pred":"associated_with","subj":"T4","obj":"T5"},{"id":"R4","pred":"associated_with","subj":"T6","obj":"T7"},{"id":"R5","pred":"associated_with","subj":"T8","obj":"T9"},{"id":"R6","pred":"associated_with","subj":"T10","obj":"T11"}],"namespaces":[{"prefix":"gene","uri":"http://www.ncbi.nlm.nih.gov/gene/"},{"prefix":"disease","uri":"http://purl.bioontology.org/ontology/MEDLINEPLUS/"}],"text":"Homozygous point mutations in NBCe1 cause proximal renal tubular acidosis (pRTA), glaucoma, and cataracts (Igarashi, T., Inatomi, J., Sekine, T., Cha, S."}

{"project":"Anatomy-MAT","denotations":[{"id":"T5","span":{"begin":42,"end":50},"obj":"Body_part"}],"attributes":[{"id":"A5","pred":"mat_id","subj":"T5","obj":"http://purl.obolibrary.org/obo/MAT_0000491"}],"text":"Homozygous point mutations in NBCe1 cause proximal renal tubular acidosis (pRTA), glaucoma, and cataracts (Igarashi, T., Inatomi, J., Sekine, T., Cha, S."}

{"project":"mondo_disease","denotations":[{"id":"T3","span":{"begin":42,"end":73},"obj":"Disease"},{"id":"T4","span":{"begin":75,"end":79},"obj":"Disease"},{"id":"T5","span":{"begin":82,"end":90},"obj":"Disease"},{"id":"T6","span":{"begin":96,"end":105},"obj":"Disease"}],"attributes":[{"id":"A3","pred":"mondo_id","subj":"T3","obj":"http://purl.obolibrary.org/obo/MONDO_0008369"},{"id":"A4","pred":"mondo_id","subj":"T4","obj":"http://purl.obolibrary.org/obo/MONDO_0008369"},{"id":"A5","pred":"mondo_id","subj":"T5","obj":"http://purl.obolibrary.org/obo/MONDO_0005041"},{"id":"A6","pred":"mondo_id","subj":"T6","obj":"http://purl.obolibrary.org/obo/MONDO_0005129"}],"text":"Homozygous point mutations in NBCe1 cause proximal renal tubular acidosis (pRTA), glaucoma, and cataracts (Igarashi, T., Inatomi, J., Sekine, T., Cha, S."}

{"project":"NCBITAXON","denotations":[{"id":"T3","span":{"begin":82,"end":90},"obj":"OrganismTaxon"}],"attributes":[{"id":"A3","pred":"db_id","subj":"T3","obj":"5882"}],"text":"Homozygous point mutations in NBCe1 cause proximal renal tubular acidosis (pRTA), glaucoma, and cataracts (Igarashi, T., Inatomi, J., Sekine, T., Cha, S."}

{"project":"HP-phenotype","denotations":[{"id":"T3","span":{"begin":42,"end":73},"obj":"Phenotype"},{"id":"T4","span":{"begin":75,"end":79},"obj":"Phenotype"},{"id":"T5","span":{"begin":82,"end":90},"obj":"Phenotype"},{"id":"T6","span":{"begin":96,"end":105},"obj":"Phenotype"}],"attributes":[{"id":"A3","pred":"hp_id","subj":"T3","obj":"HP:0002049"},{"id":"A4","pred":"hp_id","subj":"T4","obj":"HP:0002049"},{"id":"A5","pred":"hp_id","subj":"T5","obj":"HP:0000501"},{"id":"A6","pred":"hp_id","subj":"T6","obj":"HP:0000518"}],"namespaces":[{"prefix":"HP","uri":"http://purl.obolibrary.org/obo/HP_"}],"text":"Homozygous point mutations in NBCe1 cause proximal renal tubular acidosis (pRTA), glaucoma, and cataracts (Igarashi, T., Inatomi, J., Sekine, T., Cha, S."}