PubMed:7592627 / 0-145
Annnotations
DisGeNET
{"project":"DisGeNET","denotations":[{"id":"T0","span":{"begin":50,"end":59},"obj":"gene:5555"},{"id":"T1","span":{"begin":83,"end":103},"obj":"disease:C0398625"},{"id":"T2","span":{"begin":50,"end":59},"obj":"gene:5554"},{"id":"T3","span":{"begin":83,"end":103},"obj":"disease:C0398625"}],"relations":[{"id":"R1","pred":"associated_with","subj":"T0","obj":"T1"},{"id":"R2","pred":"associated_with","subj":"T2","obj":"T3"}],"namespaces":[{"prefix":"gene","uri":"http://www.ncbi.nlm.nih.gov/gene/"},{"prefix":"disease","uri":"http://purl.bioontology.org/ontology/MEDLINEPLUS/"}],"text":"Two mutations in the promoter region of the human protein C gene both cause type I protein C deficiency by disruption of two HNF-3 binding sites."}
DisGeNet-2017-sample
{"project":"DisGeNet-2017-sample","denotations":[{"id":"T2657","span":{"begin":50,"end":59},"obj":"gene:5554"},{"id":"T2658","span":{"begin":83,"end":103},"obj":"disease:C0398625"}],"relations":[{"id":"R1","pred":"associated_with","subj":"T2657","obj":"T2658"},{"id":"R2","pred":"associated_with","subj":"T2657","obj":"T2658"}],"namespaces":[{"prefix":"gene","uri":"http://www.ncbi.nlm.nih.gov/gene/"},{"prefix":"disease","uri":"http://purl.bioontology.org/ontology/MEDLINEPLUS/"}],"text":"Two mutations in the promoter region of the human protein C gene both cause type I protein C deficiency by disruption of two HNF-3 binding sites."}
sentences
{"project":"sentences","denotations":[{"id":"TextSentencer_T1","span":{"begin":0,"end":145},"obj":"Sentence"},{"id":"T1","span":{"begin":0,"end":145},"obj":"Sentence"}],"namespaces":[{"prefix":"_base","uri":"http://pubannotation.org/ontology/tao.owl#"}],"text":"Two mutations in the promoter region of the human protein C gene both cause type I protein C deficiency by disruption of two HNF-3 binding sites."}
mondo_disease
{"project":"mondo_disease","denotations":[{"id":"T1","span":{"begin":83,"end":103},"obj":"Disease"}],"attributes":[{"id":"A1","pred":"mondo_id","subj":"T1","obj":"http://purl.obolibrary.org/obo/MONDO_0019145"}],"text":"Two mutations in the promoter region of the human protein C gene both cause type I protein C deficiency by disruption of two HNF-3 binding sites."}
NCBITAXON
{"project":"NCBITAXON","denotations":[{"id":"T1","span":{"begin":44,"end":49},"obj":"OrganismTaxon"}],"attributes":[{"id":"A1","pred":"db_id","subj":"T1","obj":"9606"}],"text":"Two mutations in the promoter region of the human protein C gene both cause type I protein C deficiency by disruption of two HNF-3 binding sites."}
GlyCosmos15-HP
{"project":"GlyCosmos15-HP","denotations":[{"id":"T1","span":{"begin":83,"end":103},"obj":"Phenotype"}],"attributes":[{"id":"A1","pred":"hp_id","subj":"T1","obj":"HP:0005543"}],"namespaces":[{"prefix":"HP","uri":"http://purl.obolibrary.org/obo/HP_"}],"text":"Two mutations in the promoter region of the human protein C gene both cause type I protein C deficiency by disruption of two HNF-3 binding sites."}
Glycosmos15-CL
{"project":"Glycosmos15-CL","denotations":[{"id":"T1","span":{"begin":76,"end":82},"obj":"Cell"}],"attributes":[{"id":"A1","pred":"cl_id","subj":"T1","obj":"http://purl.obolibrary.org/obo/CL:0004120"},{"id":"A2","pred":"cl_id","subj":"T1","obj":"http://purl.obolibrary.org/obo/CL:0004138"}],"text":"Two mutations in the promoter region of the human protein C gene both cause type I protein C deficiency by disruption of two HNF-3 binding sites."}