> top > docs > PubMed:17273972 > annotations

PubMed:17273972 JSONTXT

Annnotations TAB JSON ListView MergeView

PMID_GLOBAL

Id Subject Object Predicate Lexical cue mondo_id
T1 107-132 DiseaseOrPhenotypicFeature denotes Deletion 22q11.2 syndrome 0008644
T2 174-182 DiseaseOrPhenotypicFeature denotes syndrome 0002254
T3 269-297 DiseaseOrPhenotypicFeature denotes (velocardiofacial) syndromes 0008564|0008644|0018923
T6 527-552 DiseaseOrPhenotypicFeature denotes 22q11.2 deletion syndrome 0018923
T7 778-797 DiseaseOrPhenotypicFeature denotes Shprintzen syndrome 0008564|0008644|0018923
T10 1020-1023 DiseaseOrPhenotypicFeature denotes can 0012833

TEST-DiseaseOrPhenotypicFeature

Id Subject Object Predicate Lexical cue #label
T1 88-105 DiseaseOrPhenotypicFeature denotes 22q11.2 deletions DISEASE
T2 107-132 DiseaseOrPhenotypicFeature denotes Deletion 22q11.2 syndrome D004062
T3 269-297 DiseaseOrPhenotypicFeature denotes (velocardiofacial) syndromes D004062
T4 527-552 DiseaseOrPhenotypicFeature denotes 22q11.2 deletion syndrome D004062
T5 778-797 DiseaseOrPhenotypicFeature denotes Shprintzen syndrome D004062

TEST-OrganismTaxon

Id Subject Object Predicate Lexical cue
T1 0-5 OrganismTaxon denotes Human

Test-SequenceVariant

Id Subject Object Predicate Lexical cue
T1 749-754 SequenceVariant denotes H194Q

Test-GeneOrGeneProduct

Id Subject Object Predicate Lexical cue
T1 6-10 GeneOrGeneProduct denotes TBX1
T2 334-360 GeneOrGeneProduct denotes T-box transcription factor
T3 366-370 GeneOrGeneProduct denotes TBX1
T4 454-458 GeneOrGeneProduct denotes TBX1
T5 913-941 GeneOrGeneProduct denotes stabilization of the protein
T6 988-992 GeneOrGeneProduct denotes TBX1

Test-merged

Id Subject Object Predicate Lexical cue #label
T5 778-797 DiseaseOrPhenotypicFeature denotes Shprintzen syndrome D004062
T4 527-552 DiseaseOrPhenotypicFeature denotes 22q11.2 deletion syndrome D004062
T3 269-297 DiseaseOrPhenotypicFeature denotes (velocardiofacial) syndromes D004062
T2 107-132 DiseaseOrPhenotypicFeature denotes Deletion 22q11.2 syndrome D004062
T1 88-105 DiseaseOrPhenotypicFeature denotes 22q11.2 deletions DISEASE
T72605 0-5 OrganismTaxon denotes Human
T6 988-992 GeneOrGeneProduct denotes TBX1
T40572 913-941 GeneOrGeneProduct denotes stabilization of the protein
T41249 454-458 GeneOrGeneProduct denotes TBX1
T50773 366-370 GeneOrGeneProduct denotes TBX1
T68578 334-360 GeneOrGeneProduct denotes T-box transcription factor
T5046 6-10 GeneOrGeneProduct denotes TBX1
T32535 749-754 SequenceVariant denotes H194Q

Test-merged-2

Id Subject Object Predicate Lexical cue #label
T32535 749-754 SequenceVariant denotes H194Q
T5046 6-10 GeneOrGeneProduct denotes TBX1
T68578 334-360 GeneOrGeneProduct denotes T-box transcription factor
T50773 366-370 GeneOrGeneProduct denotes TBX1
T41249 454-458 GeneOrGeneProduct denotes TBX1
T40572 913-941 GeneOrGeneProduct denotes stabilization of the protein
T6 988-992 GeneOrGeneProduct denotes TBX1
T72605 0-5 OrganismTaxon denotes Human
T1 88-105 DiseaseOrPhenotypicFeature denotes 22q11.2 deletions DISEASE
T2 107-132 DiseaseOrPhenotypicFeature denotes Deletion 22q11.2 syndrome D004062
T3 269-297 DiseaseOrPhenotypicFeature denotes (velocardiofacial) syndromes D004062
T4 527-552 DiseaseOrPhenotypicFeature denotes 22q11.2 deletion syndrome D004062
T5 778-797 DiseaseOrPhenotypicFeature denotes Shprintzen syndrome D004062

sentences

Id Subject Object Predicate Lexical cue
TextSentencer_T1 0-106 Sentence denotes Human TBX1 missense mutations cause gain of function resulting in the same phenotype as 22q11.2 deletions.
TextSentencer_T2 107-298 Sentence denotes Deletion 22q11.2 syndrome is the most frequent known microdeletion syndrome and is associated with a highly variable phenotype, including DiGeorge and Shprintzen (velocardiofacial) syndromes.
TextSentencer_T3 299-553 Sentence denotes Although haploinsufficiency of the T-box transcription factor gene TBX1 is thought to cause the phenotype, to date, only four different point mutations in TBX1 have been reported in association with six of the major features of 22q11.2 deletion syndrome.
TextSentencer_T4 554-698 Sentence denotes Although, for the two truncating mutations, loss of function was previously shown, the pathomechanism of the missense mutations remains unknown.
TextSentencer_T5 699-960 Sentence denotes We report a novel heterozygous missense mutation, H194Q, in a familial case of Shprintzen syndrome and show that this and the two previously reported missense mutations result in gain of function, possibly through stabilization of the protein dimer DNA complex.
TextSentencer_T6 961-1135 Sentence denotes We therefore conclude that TBX1 gain-of-function mutations can result in the same phenotypic spectrum as haploinsufficiency caused by loss-of-function mutations or deletions.
T1 0-106 Sentence denotes Human TBX1 missense mutations cause gain of function resulting in the same phenotype as 22q11.2 deletions.
T2 107-298 Sentence denotes Deletion 22q11.2 syndrome is the most frequent known microdeletion syndrome and is associated with a highly variable phenotype, including DiGeorge and Shprintzen (velocardiofacial) syndromes.
T3 299-553 Sentence denotes Although haploinsufficiency of the T-box transcription factor gene TBX1 is thought to cause the phenotype, to date, only four different point mutations in TBX1 have been reported in association with six of the major features of 22q11.2 deletion syndrome.
T4 554-698 Sentence denotes Although, for the two truncating mutations, loss of function was previously shown, the pathomechanism of the missense mutations remains unknown.
T5 699-960 Sentence denotes We report a novel heterozygous missense mutation, H194Q, in a familial case of Shprintzen syndrome and show that this and the two previously reported missense mutations result in gain of function, possibly through stabilization of the protein dimer DNA complex.
T6 961-1135 Sentence denotes We therefore conclude that TBX1 gain-of-function mutations can result in the same phenotypic spectrum as haploinsufficiency caused by loss-of-function mutations or deletions.

DisGeNET

Id Subject Object Predicate Lexical cue
T0 366-370 gene:6899 denotes TBX1
T1 527-552 disease:C0012236 denotes 22q11.2 deletion syndrome
T2 366-370 gene:6899 denotes TBX1
T3 527-552 disease:C0220704 denotes 22q11.2 deletion syndrome
T4 454-458 gene:6899 denotes TBX1
T5 527-552 disease:C0012236 denotes 22q11.2 deletion syndrome
T6 454-458 gene:6899 denotes TBX1
T7 527-552 disease:C0220704 denotes 22q11.2 deletion syndrome
R1 T0 T1 associated_with TBX1,22q11.2 deletion syndrome
R2 T2 T3 associated_with TBX1,22q11.2 deletion syndrome
R3 T4 T5 associated_with TBX1,22q11.2 deletion syndrome
R4 T6 T7 associated_with TBX1,22q11.2 deletion syndrome

PubCasesORDO

Id Subject Object Predicate Lexical cue
AB1 270-297 ORDO:567 denotes velocardiofacial) syndromes
AB2 778-797 ORDO:567 denotes Shprintzen syndrome

tmVarCorpus

Id Subject Object Predicate Lexical cue
T1 749-754 ProteinMutation:p|SUB|H|194|Q denotes H194Q