PubMed:20153822
Annnotations
PubTator4TogoVar
| Id | Subject | Object | Predicate | Lexical cue | proteinmutation |
|---|---|---|---|---|---|
| 20153822_0 | 71-76 | ProteinMutation | denotes | W748S | rs113994097 |
| 20153822_1 | 109-115 | ProteinMutation | denotes | E1143G | rs2307441 |
| 20153822_2 | 916-921 | ProteinMutation | denotes | W748S | rs113994097 |
| 20153822_3 | 699-705 | ProteinMutation | denotes | E1143G | rs2307441 |
| 20153822_4 | 689-694 | ProteinMutation | denotes | W748S | rs113994097 |
| 20153822_5 | 430-435 | ProteinMutation | denotes | W748S | rs113994097 |
| 20153822_6 | 252-258 | ProteinMutation | denotes | E1143G | rs2307441 |
| 20153822_7 | 231-236 | ProteinMutation | denotes | W748S | rs113994097 |
sentences
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| TextSentencer_T1 | 0-116 | Sentence | denotes | Functional analysis of H. sapiens DNA polymerase gamma spacer mutation W748S with and without common variant E1143G. |
| TextSentencer_T2 | 117-209 | Sentence | denotes | Mitochondrial DNA polymerase, POLG, is the sole DNA polymerase found in animal mitochondria. |
| TextSentencer_T3 | 210-379 | 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. |
| TextSentencer_T4 | 380-484 | Sentence | denotes | We investigated the biochemical phenotypes of the W748S amino acid change, using recombinant human POLG. |
| TextSentencer_T5 | 485-645 | Sentence | denotes | We measured processive and non-processive DNA polymerase activity, DNA binding affinity, enzyme processivity, and subunit interaction with recombinant POLGbeta. |
| TextSentencer_T6 | 646-777 | Sentence | denotes | In addition, we studied the effects of the W748S and E1143G mutations in primary human cell cultures using retroviral transduction. |
| TextSentencer_T7 | 778-885 | Sentence | denotes | Here, we examined cell viability, mitochondrial DNA copy number, and products of mitochondrial translation. |
| TextSentencer_T8 | 886-1100 | Sentence | denotes | Our results indicate that the W748S mutant POLGalpha does not exhibit a clear biochemical phenotype, making it indistinguishable from wild type POLGalpha and as such, fail to replicate previously published results. |
| TextSentencer_T9 | 1101-1229 | Sentence | denotes | Furthermore, results from the cell models were concurrent with the findings from patients, and support our biochemical findings. |
| T1 | 0-116 | Sentence | denotes | Functional analysis of H. sapiens DNA polymerase gamma spacer mutation W748S with and without common variant E1143G. |
| T2 | 117-209 | Sentence | denotes | Mitochondrial DNA polymerase, POLG, is the sole DNA polymerase found in animal mitochondria. |
| T3 | 210-379 | 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. |
| T4 | 380-484 | Sentence | denotes | We investigated the biochemical phenotypes of the W748S amino acid change, using recombinant human POLG. |
| T5 | 485-645 | Sentence | denotes | We measured processive and non-processive DNA polymerase activity, DNA binding affinity, enzyme processivity, and subunit interaction with recombinant POLGbeta. |
| T6 | 646-777 | Sentence | denotes | In addition, we studied the effects of the W748S and E1143G mutations in primary human cell cultures using retroviral transduction. |
| T7 | 778-885 | Sentence | denotes | Here, we examined cell viability, mitochondrial DNA copy number, and products of mitochondrial translation. |
| T8 | 886-1100 | Sentence | denotes | Our results indicate that the W748S mutant POLGalpha does not exhibit a clear biochemical phenotype, making it indistinguishable from wild type POLGalpha and as such, fail to replicate previously published results. |
| T9 | 1101-1229 | Sentence | denotes | Furthermore, results from the cell models were concurrent with the findings from patients, and support our biochemical findings. |
DisGeNET
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T0 | 319-324 | gene:5428 | denotes | MIRAS |
| T1 | 361-367 | disease:C0004134 | denotes | ataxia |
| R1 | T0 | T1 | associated_with | MIRAS,ataxia |
PubmedHPO
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 117-130 | HP_0001427 | denotes | Mitochondrial |
| T2 | 311-317 | HP_0001251 | denotes | ataxia |
| T3 | 361-367 | HP_0001251 | denotes | ataxia |
| T4 | 812-825 | HP_0001427 | denotes | mitochondrial |
| T5 | 859-872 | HP_0001427 | denotes | mitochondrial |
DisGeNET5_variant_disease
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| 20153822-2#42#48#geners2307441 | 252-258 | geners2307441 | denotes | E1143G |
| 20153822-2#21#26#geners113994097 | 231-236 | geners113994097 | denotes | W748S |
| 20153822-2#101#107#diseaseC0004134 | 311-317 | diseaseC0004134 | denotes | ataxia |
| 20153822-2#101#107#diseaseC0007758 | 311-317 | diseaseC0007758 | denotes | ataxia |
| 20153822-2#151#157#diseaseC0004134 | 361-367 | diseaseC0004134 | denotes | ataxia |
| 20153822-2#151#157#diseaseC0007758 | 361-367 | diseaseC0007758 | denotes | ataxia |
| 20153822-2#101#107#diseaseC0004134 | 311-317 | diseaseC0004134 | denotes | ataxia |
| 20153822-2#101#107#diseaseC0007758 | 311-317 | diseaseC0007758 | denotes | ataxia |
| 20153822-2#151#157#diseaseC0004134 | 361-367 | diseaseC0004134 | denotes | ataxia |
| 20153822-2#151#157#diseaseC0007758 | 361-367 | 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 | 319-324 | gene5428 | denotes | MIRAS |
| 20153822-2#151#157#diseaseC0004134 | 361-367 | diseaseC0004134 | denotes | ataxia |
| 20153822-2#151#157#diseaseC0007758 | 361-367 | 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 | 319-324 | gene:5428 | denotes | MIRAS |
| T2407 | 361-367 | 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 | 311-317 | Phenotype | denotes | ataxia | HP:0001251 |
| T2 | 361-367 | Phenotype | denotes | ataxia | HP:0001251 |
mondo_disease
| Id | Subject | Object | Predicate | Lexical cue | mondo_id |
|---|---|---|---|---|---|
| T1 | 311-317 | Disease | denotes | ataxia | http://purl.obolibrary.org/obo/MONDO_0000437 |
| T2 | 319-324 | Disease | denotes | MIRAS | http://purl.obolibrary.org/obo/MONDO_0019791 |
| T3 | 361-367 | Disease | denotes | ataxia | http://purl.obolibrary.org/obo/MONDO_0000437 |
NCBITAXON
| Id | Subject | Object | Predicate | Lexical cue | db_id |
|---|---|---|---|---|---|
| T1 | 473-478 | OrganismTaxon | denotes | human | 9606 |
| T2 | 727-732 | OrganismTaxon | denotes | human | 9606 |
Anatomy-UBERON
| Id | Subject | Object | Predicate | Lexical cue | uberon_id |
|---|---|---|---|---|---|
| T1 | 160-164 | Body_part | denotes | sole | http://purl.obolibrary.org/obo/UBERON_0008338 |