PubMed:8106452 / 0-214 JSONTXT

{"project":"sentences","denotations":[{"id":"TextSentencer_T1","span":{"begin":0,"end":214},"obj":"Sentence"},{"id":"T1","span":{"begin":0,"end":214},"obj":"Sentence"}],"namespaces":[{"prefix":"_base","uri":"http://pubannotation.org/ontology/tao.owl#"}],"text":"Preferential beta-hexosaminidase (Hex) A (alpha beta) formation in the absence of beta-Hex B (beta beta) due to heterozygous point mutations present in beta-Hex beta-chain alleles of a motor neuron disease patient."}

{"project":"DisGeNET","denotations":[{"id":"T0","span":{"begin":87,"end":90},"obj":"gene:10724"},{"id":"T1","span":{"begin":185,"end":205},"obj":"disease:C0085084"},{"id":"T2","span":{"begin":34,"end":37},"obj":"gene:10724"},{"id":"T3","span":{"begin":185,"end":205},"obj":"disease:C0085084"},{"id":"T4","span":{"begin":13,"end":32},"obj":"gene:10724"},{"id":"T5","span":{"begin":185,"end":205},"obj":"disease:C0085084"}],"relations":[{"id":"R1","pred":"associated_with","subj":"T0","obj":"T1"},{"id":"R2","pred":"associated_with","subj":"T2","obj":"T3"},{"id":"R3","pred":"associated_with","subj":"T4","obj":"T5"}],"namespaces":[{"prefix":"gene","uri":"http://www.ncbi.nlm.nih.gov/gene/"},{"prefix":"disease","uri":"http://purl.bioontology.org/ontology/MEDLINEPLUS/"}],"text":"Preferential beta-hexosaminidase (Hex) A (alpha beta) formation in the absence of beta-Hex B (beta beta) due to heterozygous point mutations present in beta-Hex beta-chain alleles of a motor neuron disease patient."}

{"project":"DisGeNET5_gene_disease","denotations":[{"id":"8106452-0#13#32#gene10724","span":{"begin":13,"end":32},"obj":"gene10724"},{"id":"8106452-0#34#37#gene10724","span":{"begin":34,"end":37},"obj":"gene10724"},{"id":"8106452-0#87#90#gene10724","span":{"begin":87,"end":90},"obj":"gene10724"},{"id":"8106452-0#185#205#diseaseC0085084","span":{"begin":185,"end":205},"obj":"diseaseC0085084"}],"relations":[{"id":"13#32#gene10724185#205#diseaseC0085084","pred":"associated_with","subj":"8106452-0#13#32#gene10724","obj":"8106452-0#185#205#diseaseC0085084"},{"id":"34#37#gene10724185#205#diseaseC0085084","pred":"associated_with","subj":"8106452-0#34#37#gene10724","obj":"8106452-0#185#205#diseaseC0085084"},{"id":"87#90#gene10724185#205#diseaseC0085084","pred":"associated_with","subj":"8106452-0#87#90#gene10724","obj":"8106452-0#185#205#diseaseC0085084"}],"text":"Preferential beta-hexosaminidase (Hex) A (alpha beta) formation in the absence of beta-Hex B (beta beta) due to heterozygous point mutations present in beta-Hex beta-chain alleles of a motor neuron disease patient."}

{"project":"performance-test","denotations":[{"id":"PD-UBERON-AE-B_T1","span":{"begin":191,"end":197},"obj":"http://purl.obolibrary.org/obo/UBERON_2000602"}],"text":"Preferential beta-hexosaminidase (Hex) A (alpha beta) formation in the absence of beta-Hex B (beta beta) due to heterozygous point mutations present in beta-Hex beta-chain alleles of a motor neuron disease patient."}

{"project":"mondo_disease","denotations":[{"id":"T1","span":{"begin":185,"end":205},"obj":"Disease"}],"attributes":[{"id":"A1","pred":"mondo_id","subj":"T1","obj":"http://purl.obolibrary.org/obo/MONDO_0020128"}],"text":"Preferential beta-hexosaminidase (Hex) A (alpha beta) formation in the absence of beta-Hex B (beta beta) due to heterozygous point mutations present in beta-Hex beta-chain alleles of a motor neuron disease patient."}

{"project":"NCBITAXON","denotations":[{"id":"T1","span":{"begin":206,"end":213},"obj":"OrganismTaxon"}],"attributes":[{"id":"A1","pred":"db_id","subj":"T1","obj":"9606"}],"text":"Preferential beta-hexosaminidase (Hex) A (alpha beta) formation in the absence of beta-Hex B (beta beta) due to heterozygous point mutations present in beta-Hex beta-chain alleles of a motor neuron disease patient."}

{"project":"Anatomy-UBERON","denotations":[{"id":"T1","span":{"begin":185,"end":197},"obj":"Body_part"}],"attributes":[{"id":"A1","pred":"uberon_id","subj":"T1","obj":"http://purl.obolibrary.org/obo/CL_0000100"}],"text":"Preferential beta-hexosaminidase (Hex) A (alpha beta) formation in the absence of beta-Hex B (beta beta) due to heterozygous point mutations present in beta-Hex beta-chain alleles of a motor neuron disease patient."}

{"project":"CL-cell","denotations":[{"id":"T1","span":{"begin":185,"end":197},"obj":"Cell"},{"id":"T2","span":{"begin":191,"end":197},"obj":"Cell"}],"attributes":[{"id":"A1","pred":"cl_id","subj":"T1","obj":"http://purl.obolibrary.org/obo/CL:0000100"},{"id":"A2","pred":"cl_id","subj":"T2","obj":"http://purl.obolibrary.org/obo/CL:0000540"}],"text":"Preferential beta-hexosaminidase (Hex) A (alpha beta) formation in the absence of beta-Hex B (beta beta) due to heterozygous point mutations present in beta-Hex beta-chain alleles of a motor neuron disease patient."}