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PubMed:20153822 / 210-379 JSONTXT

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PubTator4TogoVar

Id Subject Object Predicate Lexical cue proteinmutation
20153822_6 42-48 ProteinMutation denotes E1143G rs2307441
20153822_7 21-26 ProteinMutation denotes W748S rs113994097

sentences

Id Subject Object Predicate Lexical cue
TextSentencer_T3 0-169 Sentence denotes 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.
T3 0-169 Sentence denotes 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.

DisGeNET

Id Subject Object Predicate Lexical cue
T0 109-114 gene:5428 denotes MIRAS
T1 151-157 disease:C0004134 denotes ataxia
R1 T0 T1 associated_with MIRAS,ataxia

PubmedHPO

Id Subject Object Predicate Lexical cue
T2 101-107 HP_0001251 denotes ataxia
T3 151-157 HP_0001251 denotes ataxia

DisGeNET5_variant_disease

Id Subject Object Predicate Lexical cue
20153822-2#42#48#geners2307441 42-48 geners2307441 denotes E1143G
20153822-2#21#26#geners113994097 21-26 geners113994097 denotes W748S
20153822-2#101#107#diseaseC0004134 101-107 diseaseC0004134 denotes ataxia
20153822-2#101#107#diseaseC0007758 101-107 diseaseC0007758 denotes ataxia
20153822-2#151#157#diseaseC0004134 151-157 diseaseC0004134 denotes ataxia
20153822-2#151#157#diseaseC0007758 151-157 diseaseC0007758 denotes ataxia
20153822-2#101#107#diseaseC0004134 101-107 diseaseC0004134 denotes ataxia
20153822-2#101#107#diseaseC0007758 101-107 diseaseC0007758 denotes ataxia
20153822-2#151#157#diseaseC0004134 151-157 diseaseC0004134 denotes ataxia
20153822-2#151#157#diseaseC0007758 151-157 diseaseC0007758 denotes ataxia
42#48#geners2307441101#107#diseaseC0004134 20153822-2#42#48#geners2307441 20153822-2#101#107#diseaseC0004134 associated_with E1143G,ataxia
42#48#geners2307441101#107#diseaseC0007758 20153822-2#42#48#geners2307441 20153822-2#101#107#diseaseC0007758 associated_with E1143G,ataxia
42#48#geners2307441151#157#diseaseC0004134 20153822-2#42#48#geners2307441 20153822-2#151#157#diseaseC0004134 associated_with E1143G,ataxia
42#48#geners2307441151#157#diseaseC0007758 20153822-2#42#48#geners2307441 20153822-2#151#157#diseaseC0007758 associated_with E1143G,ataxia
42#48#geners2307441101#107#diseaseC0004134 20153822-2#42#48#geners2307441 20153822-2#101#107#diseaseC0004134 associated_with E1143G,ataxia
42#48#geners2307441101#107#diseaseC0007758 20153822-2#42#48#geners2307441 20153822-2#101#107#diseaseC0007758 associated_with E1143G,ataxia
42#48#geners2307441151#157#diseaseC0004134 20153822-2#42#48#geners2307441 20153822-2#151#157#diseaseC0004134 associated_with E1143G,ataxia
42#48#geners2307441151#157#diseaseC0007758 20153822-2#42#48#geners2307441 20153822-2#151#157#diseaseC0007758 associated_with E1143G,ataxia
21#26#geners113994097101#107#diseaseC0004134 20153822-2#21#26#geners113994097 20153822-2#101#107#diseaseC0004134 associated_with W748S,ataxia
21#26#geners113994097101#107#diseaseC0007758 20153822-2#21#26#geners113994097 20153822-2#101#107#diseaseC0007758 associated_with W748S,ataxia
21#26#geners113994097151#157#diseaseC0004134 20153822-2#21#26#geners113994097 20153822-2#151#157#diseaseC0004134 associated_with W748S,ataxia
21#26#geners113994097151#157#diseaseC0007758 20153822-2#21#26#geners113994097 20153822-2#151#157#diseaseC0007758 associated_with W748S,ataxia
21#26#geners113994097101#107#diseaseC0004134 20153822-2#21#26#geners113994097 20153822-2#101#107#diseaseC0004134 associated_with W748S,ataxia
21#26#geners113994097101#107#diseaseC0007758 20153822-2#21#26#geners113994097 20153822-2#101#107#diseaseC0007758 associated_with W748S,ataxia
21#26#geners113994097151#157#diseaseC0004134 20153822-2#21#26#geners113994097 20153822-2#151#157#diseaseC0004134 associated_with W748S,ataxia
21#26#geners113994097151#157#diseaseC0007758 20153822-2#21#26#geners113994097 20153822-2#151#157#diseaseC0007758 associated_with W748S,ataxia

DisGeNET5_gene_disease

Id Subject Object Predicate Lexical cue
20153822-2#109#114#gene5428 109-114 gene5428 denotes MIRAS
20153822-2#151#157#diseaseC0004134 151-157 diseaseC0004134 denotes ataxia
20153822-2#151#157#diseaseC0007758 151-157 diseaseC0007758 denotes ataxia
109#114#gene5428151#157#diseaseC0004134 20153822-2#109#114#gene5428 20153822-2#151#157#diseaseC0004134 associated_with MIRAS,ataxia
109#114#gene5428151#157#diseaseC0007758 20153822-2#109#114#gene5428 20153822-2#151#157#diseaseC0007758 associated_with MIRAS,ataxia

DisGeNet-2017-sample

Id Subject Object Predicate Lexical cue
T2406 109-114 gene:5428 denotes MIRAS
T2407 151-157 disease:C0004134 denotes ataxia
R1 T2406 T2407 associated_with MIRAS,ataxia
R2 T2406 T2407 associated_with MIRAS,ataxia

HP-phenotype

Id Subject Object Predicate Lexical cue hp_id
T1 101-107 Phenotype denotes ataxia HP:0001251
T2 151-157 Phenotype denotes ataxia HP:0001251

mondo_disease

Id Subject Object Predicate Lexical cue mondo_id
T1 101-107 Disease denotes ataxia http://purl.obolibrary.org/obo/MONDO_0000437
T2 109-114 Disease denotes MIRAS http://purl.obolibrary.org/obo/MONDO_0019791
T3 151-157 Disease denotes ataxia http://purl.obolibrary.org/obo/MONDO_0000437