PubMed:20153822 / 210-379 JSONTXT

{"project":"PubTator4TogoVar","denotations":[{"id":"20153822_6","span":{"begin":42,"end":48},"obj":"ProteinMutation"},{"id":"20153822_7","span":{"begin":21,"end":26},"obj":"ProteinMutation"}],"attributes":[{"id":"20153822_6_ProteinMutation","pred":"proteinmutation","subj":"20153822_6","obj":"rs2307441"},{"id":"20153822_7_ProteinMutation","pred":"proteinmutation","subj":"20153822_7","obj":"rs113994097"}],"text":"In humans, POLGalpha W748S in cis with an E1143G mutation has been linked to a new type of recessive ataxia, MIRAS, which is the most common inherited ataxia in Finland."}

{"project":"sentences","denotations":[{"id":"TextSentencer_T3","span":{"begin":0,"end":169},"obj":"Sentence"},{"id":"T3","span":{"begin":0,"end":169},"obj":"Sentence"}],"namespaces":[{"prefix":"_base","uri":"http://pubannotation.org/ontology/tao.owl#"}],"text":"In humans, POLGalpha W748S in cis with an E1143G mutation has been linked to a new type of recessive ataxia, MIRAS, which is the most common inherited ataxia in Finland."}

{"project":"DisGeNET","denotations":[{"id":"T0","span":{"begin":109,"end":114},"obj":"gene:5428"},{"id":"T1","span":{"begin":151,"end":157},"obj":"disease:C0004134"}],"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":"In humans, POLGalpha W748S in cis with an E1143G mutation has been linked to a new type of recessive ataxia, MIRAS, which is the most common inherited ataxia in Finland."}

{"project":"PubmedHPO","denotations":[{"id":"T2","span":{"begin":101,"end":107},"obj":"HP_0001251"},{"id":"T3","span":{"begin":151,"end":157},"obj":"HP_0001251"}],"text":"In humans, POLGalpha W748S in cis with an E1143G mutation has been linked to a new type of recessive ataxia, MIRAS, which is the most common inherited ataxia in Finland."}

{"project":"DisGeNET5_variant_disease","denotations":[{"id":"20153822-2#42#48#geners2307441","span":{"begin":42,"end":48},"obj":"geners2307441"},{"id":"20153822-2#21#26#geners113994097","span":{"begin":21,"end":26},"obj":"geners113994097"},{"id":"20153822-2#101#107#diseaseC0004134","span":{"begin":101,"end":107},"obj":"diseaseC0004134"},{"id":"20153822-2#101#107#diseaseC0007758","span":{"begin":101,"end":107},"obj":"diseaseC0007758"},{"id":"20153822-2#151#157#diseaseC0004134","span":{"begin":151,"end":157},"obj":"diseaseC0004134"},{"id":"20153822-2#151#157#diseaseC0007758","span":{"begin":151,"end":157},"obj":"diseaseC0007758"},{"id":"20153822-2#101#107#diseaseC0004134","span":{"begin":101,"end":107},"obj":"diseaseC0004134"},{"id":"20153822-2#101#107#diseaseC0007758","span":{"begin":101,"end":107},"obj":"diseaseC0007758"},{"id":"20153822-2#151#157#diseaseC0004134","span":{"begin":151,"end":157},"obj":"diseaseC0004134"},{"id":"20153822-2#151#157#diseaseC0007758","span":{"begin":151,"end":157},"obj":"diseaseC0007758"}],"relations":[{"id":"42#48#geners2307441101#107#diseaseC0004134","pred":"associated_with","subj":"20153822-2#42#48#geners2307441","obj":"20153822-2#101#107#diseaseC0004134"},{"id":"42#48#geners2307441101#107#diseaseC0007758","pred":"associated_with","subj":"20153822-2#42#48#geners2307441","obj":"20153822-2#101#107#diseaseC0007758"},{"id":"42#48#geners2307441151#157#diseaseC0004134","pred":"associated_with","subj":"20153822-2#42#48#geners2307441","obj":"20153822-2#151#157#diseaseC0004134"},{"id":"42#48#geners2307441151#157#diseaseC0007758","pred":"associated_with","subj":"20153822-2#42#48#geners2307441","obj":"20153822-2#151#157#diseaseC0007758"},{"id":"42#48#geners2307441101#107#diseaseC0004134","pred":"associated_with","subj":"20153822-2#42#48#geners2307441","obj":"20153822-2#101#107#diseaseC0004134"},{"id":"42#48#geners2307441101#107#diseaseC0007758","pred":"associated_with","subj":"20153822-2#42#48#geners2307441","obj":"20153822-2#101#107#diseaseC0007758"},{"id":"42#48#geners2307441151#157#diseaseC0004134","pred":"associated_with","subj":"20153822-2#42#48#geners2307441","obj":"20153822-2#151#157#diseaseC0004134"},{"id":"42#48#geners2307441151#157#diseaseC0007758","pred":"associated_with","subj":"20153822-2#42#48#geners2307441","obj":"20153822-2#151#157#diseaseC0007758"},{"id":"21#26#geners113994097101#107#diseaseC0004134","pred":"associated_with","subj":"20153822-2#21#26#geners113994097","obj":"20153822-2#101#107#diseaseC0004134"},{"id":"21#26#geners113994097101#107#diseaseC0007758","pred":"associated_with","subj":"20153822-2#21#26#geners113994097","obj":"20153822-2#101#107#diseaseC0007758"},{"id":"21#26#geners113994097151#157#diseaseC0004134","pred":"associated_with","subj":"20153822-2#21#26#geners113994097","obj":"20153822-2#151#157#diseaseC0004134"},{"id":"21#26#geners113994097151#157#diseaseC0007758","pred":"associated_with","subj":"20153822-2#21#26#geners113994097","obj":"20153822-2#151#157#diseaseC0007758"},{"id":"21#26#geners113994097101#107#diseaseC0004134","pred":"associated_with","subj":"20153822-2#21#26#geners113994097","obj":"20153822-2#101#107#diseaseC0004134"},{"id":"21#26#geners113994097101#107#diseaseC0007758","pred":"associated_with","subj":"20153822-2#21#26#geners113994097","obj":"20153822-2#101#107#diseaseC0007758"},{"id":"21#26#geners113994097151#157#diseaseC0004134","pred":"associated_with","subj":"20153822-2#21#26#geners113994097","obj":"20153822-2#151#157#diseaseC0004134"},{"id":"21#26#geners113994097151#157#diseaseC0007758","pred":"associated_with","subj":"20153822-2#21#26#geners113994097","obj":"20153822-2#151#157#diseaseC0007758"}],"text":"In humans, POLGalpha W748S in cis with an E1143G mutation has been linked to a new type of recessive ataxia, MIRAS, which is the most common inherited ataxia in Finland."}

{"project":"DisGeNET5_gene_disease","denotations":[{"id":"20153822-2#109#114#gene5428","span":{"begin":109,"end":114},"obj":"gene5428"},{"id":"20153822-2#151#157#diseaseC0004134","span":{"begin":151,"end":157},"obj":"diseaseC0004134"},{"id":"20153822-2#151#157#diseaseC0007758","span":{"begin":151,"end":157},"obj":"diseaseC0007758"}],"relations":[{"id":"109#114#gene5428151#157#diseaseC0004134","pred":"associated_with","subj":"20153822-2#109#114#gene5428","obj":"20153822-2#151#157#diseaseC0004134"},{"id":"109#114#gene5428151#157#diseaseC0007758","pred":"associated_with","subj":"20153822-2#109#114#gene5428","obj":"20153822-2#151#157#diseaseC0007758"}],"text":"In humans, POLGalpha W748S in cis with an E1143G mutation has been linked to a new type of recessive ataxia, MIRAS, which is the most common inherited ataxia in Finland."}

{"project":"DisGeNet-2017-sample","denotations":[{"id":"T2406","span":{"begin":109,"end":114},"obj":"gene:5428"},{"id":"T2407","span":{"begin":151,"end":157},"obj":"disease:C0004134"}],"relations":[{"id":"R1","pred":"associated_with","subj":"T2406","obj":"T2407"},{"id":"R2","pred":"associated_with","subj":"T2406","obj":"T2407"}],"namespaces":[{"prefix":"gene","uri":"http://www.ncbi.nlm.nih.gov/gene/"},{"prefix":"disease","uri":"http://purl.bioontology.org/ontology/MEDLINEPLUS/"}],"text":"In humans, POLGalpha W748S in cis with an E1143G mutation has been linked to a new type of recessive ataxia, MIRAS, which is the most common inherited ataxia in Finland."}

{"project":"HP-phenotype","denotations":[{"id":"T1","span":{"begin":101,"end":107},"obj":"Phenotype"},{"id":"T2","span":{"begin":151,"end":157},"obj":"Phenotype"}],"attributes":[{"id":"A1","pred":"hp_id","subj":"T1","obj":"HP:0001251"},{"id":"A2","pred":"hp_id","subj":"T2","obj":"HP:0001251"}],"namespaces":[{"prefix":"HP","uri":"http://purl.obolibrary.org/obo/HP_"}],"text":"In humans, POLGalpha W748S in cis with an E1143G mutation has been linked to a new type of recessive ataxia, MIRAS, which is the most common inherited ataxia in Finland."}

{"project":"mondo_disease","denotations":[{"id":"T1","span":{"begin":101,"end":107},"obj":"Disease"},{"id":"T2","span":{"begin":109,"end":114},"obj":"Disease"},{"id":"T3","span":{"begin":151,"end":157},"obj":"Disease"}],"attributes":[{"id":"A1","pred":"mondo_id","subj":"T1","obj":"http://purl.obolibrary.org/obo/MONDO_0000437"},{"id":"A2","pred":"mondo_id","subj":"T2","obj":"http://purl.obolibrary.org/obo/MONDO_0019791"},{"id":"A3","pred":"mondo_id","subj":"T3","obj":"http://purl.obolibrary.org/obo/MONDO_0000437"}],"text":"In humans, POLGalpha W748S in cis with an E1143G mutation has been linked to a new type of recessive ataxia, MIRAS, which is the most common inherited ataxia in Finland."}