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PubMed:8755918 JSONTXT

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LitCoin-sentences

Id Subject Object Predicate Lexical cue
T1 0-70 Sentence denotes Mutations associated with variant phenotypes in ataxia-telangiectasia.
T2 71-307 Sentence denotes We have identified 14 families with ataxia-telangiectasia (A-T) in which mutation of the ATM gene is associated with a less severe clinical and cellular phenotype (approximately 10%-15% of A-T families identified in the United Kingdom).
T3 308-463 Sentence denotes In 10 of these families, all the homozygotes have a 137-bp insertion in their cDNA caused by a point mutation in a sequence resembling a splice-donor site.
T4 464-527 Sentence denotes The second A-T allele has a different mutation in each patient.
T5 528-706 Sentence denotes We show that the less severe phenotype in these patients is caused by some degree of normal splicing, which occurs as an alternative product from the insertion-containing allele.
T6 707-841 Sentence denotes The level of the 137-bp PCR product containing the insertion was lowest in two patients who showed a later onset of cerebellar ataxia.
T7 842-918 Sentence denotes A further four families who do not have this insertion have been identified.
T8 919-1016 Sentence denotes Mutations detected in two of four of these are missense mutations, normally rare in A-T patients.
T9 1017-1219 Sentence denotes The demonstration of mutations giving rise to a slightly milder phenotype in A-T raises the interesting question of what range of phenotypes might occur in individuals in whom both mutations are milder.
T10 1220-1343 Sentence denotes One possibility might be that individuals who are compound heterozygotes for ATM mutations are more common than we realize.

LitCoin-entities

Id Subject Object Predicate Lexical cue db_id
160 48-69 DiseaseOrPhenotypicFeature denotes ataxia-telangiectasia MESH:D001260
161 107-128 DiseaseOrPhenotypicFeature denotes ataxia-telangiectasia MESH:D001260
162 130-133 DiseaseOrPhenotypicFeature denotes A-T MESH:D001260
163 160-163 GeneOrGeneProduct denotes ATM NCBIGene:472
164 260-263 DiseaseOrPhenotypicFeature denotes A-T MESH:D001260
165 360-376 SequenceVariant denotes 137-bp insertion c|INS||137
166 475-478 DiseaseOrPhenotypicFeature denotes A-T MESH:D001260
167 519-526 OrganismTaxon denotes patient NCBITaxon:9606
168 576-584 OrganismTaxon denotes patients NCBITaxon:9606
169 786-794 OrganismTaxon denotes patients NCBITaxon:9606
170 823-840 DiseaseOrPhenotypicFeature denotes cerebellar ataxia MESH:D002524
171 1003-1006 DiseaseOrPhenotypicFeature denotes A-T MESH:D001260
172 1007-1015 OrganismTaxon denotes patients NCBITaxon:9606
173 1094-1097 DiseaseOrPhenotypicFeature denotes A-T MESH:D001260
174 1297-1300 GeneOrGeneProduct denotes ATM NCBIGene:472

LitCoin_Mondo

Id Subject Object Predicate Lexical cue mondo_id
T1 48-69 DiseaseOrPhenotypicFeature denotes ataxia-telangiectasia 0008840
T2 107-128 DiseaseOrPhenotypicFeature denotes ataxia-telangiectasia 0008840
T3 823-840 DiseaseOrPhenotypicFeature denotes cerebellar ataxia 0000437
T4 995-999 DiseaseOrPhenotypicFeature denotes rare 0021136

LitCoin-SeqVar

Id Subject Object Predicate Lexical cue
T1 360-376 SequenceVariant denotes 137-bp insertion

LitCoin-GeneOrGeneProduct-v0

Id Subject Object Predicate Lexical cue
T1 0-9 GeneOrGeneProduct denotes Mutations
T2 48-54 GeneOrGeneProduct denotes ataxia
T3 107-113 GeneOrGeneProduct denotes ataxia
T4 144-152 GeneOrGeneProduct denotes mutation
T5 235-248 GeneOrGeneProduct denotes approximately
T6 308-313 GeneOrGeneProduct denotes In 10
T7 333-336 GeneOrGeneProduct denotes all
T8 358-363 GeneOrGeneProduct denotes a 137
T9 386-390 GeneOrGeneProduct denotes cDNA
T10 403-408 GeneOrGeneProduct denotes point
T11 409-417 GeneOrGeneProduct denotes mutation
T12 445-451 GeneOrGeneProduct denotes splice
T13 486-491 GeneOrGeneProduct denotes has a
T14 502-510 GeneOrGeneProduct denotes mutation
T15 620-628 GeneOrGeneProduct denotes splicing
T16 661-668 GeneOrGeneProduct denotes product
T17 735-742 GeneOrGeneProduct denotes product
T18 808-813 GeneOrGeneProduct denotes later
T19 834-840 GeneOrGeneProduct denotes ataxia
T20 919-928 GeneOrGeneProduct denotes Mutations
T21 966-974 GeneOrGeneProduct denotes missense
T22 975-984 GeneOrGeneProduct denotes mutations
T23 995-999 GeneOrGeneProduct denotes rare
T24 1035-1047 GeneOrGeneProduct denotes of mutations
T25 1065-1073 GeneOrGeneProduct denotes slightly
T26 1098-1104 GeneOrGeneProduct denotes raises
T27 1138-1143 GeneOrGeneProduct denotes range
T28 1198-1207 GeneOrGeneProduct denotes mutations
T29 1301-1310 GeneOrGeneProduct denotes mutations

LitCoin-GeneOrGeneProduct-v2

Id Subject Object Predicate Lexical cue
T1 48-54 GeneOrGeneProduct denotes ataxia
T2 107-113 GeneOrGeneProduct denotes ataxia
T3 386-390 GeneOrGeneProduct denotes cDNA
T4 661-668 GeneOrGeneProduct denotes product
T5 735-742 GeneOrGeneProduct denotes product
T6 834-840 GeneOrGeneProduct denotes ataxia
T7 995-999 GeneOrGeneProduct denotes rare

LitCoin-Disease-MeSH

Id Subject Object Predicate Lexical cue originalLabel
T1 48-69 DiseaseOrPhenotypicFeature denotes ataxia-telangiectasia D001260
T2 107-128 DiseaseOrPhenotypicFeature denotes ataxia-telangiectasia D001260
T3 823-840 DiseaseOrPhenotypicFeature denotes cerebellar ataxia D002524

LitCoin_Mondo_095

Id Subject Object Predicate Lexical cue mondo_id
T1 48-69 DiseaseOrPhenotypicFeature denotes ataxia-telangiectasia 0008840
T2 107-128 DiseaseOrPhenotypicFeature denotes ataxia-telangiectasia 0008840
T3 823-840 DiseaseOrPhenotypicFeature denotes cerebellar ataxia 0000437

LitCoin-MeSH-Disease-2

Id Subject Object Predicate Lexical cue ID:
T1 48-69 DiseaseOrPhenotypicFeature denotes ataxia-telangiectasia D001260
T2 107-128 DiseaseOrPhenotypicFeature denotes ataxia-telangiectasia D001260
T3 823-840 DiseaseOrPhenotypicFeature denotes cerebellar ataxia D002524

LitCoin-MONDO_bioort2019

Id Subject Object Predicate Lexical cue #label
T1 48-69 DiseaseOrPhenotypicFeature denotes ataxia-telangiectasia D001260
T2 107-128 DiseaseOrPhenotypicFeature denotes ataxia-telangiectasia D001260
T3 130-133 DiseaseOrPhenotypicFeature denotes A-T DISEASE
T4 260-263 DiseaseOrPhenotypicFeature denotes A-T DISEASE
T5 475-478 DiseaseOrPhenotypicFeature denotes A-T DISEASE
T6 823-840 DiseaseOrPhenotypicFeature denotes cerebellar ataxia D002524
T7 1003-1006 DiseaseOrPhenotypicFeature denotes A-T DISEASE
T8 1094-1097 DiseaseOrPhenotypicFeature denotes A-T DISEASE

LitCoin-NCBITaxon-2

Id Subject Object Predicate Lexical cue
T1 519-526 OrganismTaxon denotes patient
T2 576-584 OrganismTaxon denotes patients
T3 786-794 OrganismTaxon denotes patients
T4 1007-1015 OrganismTaxon denotes patients

LitCoin-training-merged

Id Subject Object Predicate Lexical cue #label
T8 1094-1097 DiseaseOrPhenotypicFeature denotes A-T DISEASE
T7 1003-1006 DiseaseOrPhenotypicFeature denotes A-T DISEASE
T6 823-840 DiseaseOrPhenotypicFeature denotes cerebellar ataxia D002524
T5 475-478 DiseaseOrPhenotypicFeature denotes A-T DISEASE
T4 260-263 DiseaseOrPhenotypicFeature denotes A-T DISEASE
T3 130-133 DiseaseOrPhenotypicFeature denotes A-T DISEASE
T2 107-128 DiseaseOrPhenotypicFeature denotes ataxia-telangiectasia D001260
T1 48-69 DiseaseOrPhenotypicFeature denotes ataxia-telangiectasia D001260
T39155 1007-1015 OrganismTaxon denotes patients
T75344 786-794 OrganismTaxon denotes patients
T1866 576-584 OrganismTaxon denotes patients
T50501 519-526 OrganismTaxon denotes patient
T81604 360-376 SequenceVariant denotes 137-bp insertion

DisGeNET

Id Subject Object Predicate Lexical cue
T0 160-163 gene:472 denotes ATM
T1 107-128 disease:C0004135 denotes ataxia-telangiectasia
T2 160-163 gene:472 denotes ATM
T3 130-133 disease:C0004135 denotes A-T
T4 160-163 gene:472 denotes ATM
T5 260-263 disease:C0004135 denotes A-T
R1 T0 T1 associated_with ATM,ataxia-telangiectasia
R2 T2 T3 associated_with ATM,A-T
R3 T4 T5 associated_with ATM,A-T

DisGeNET5_gene_disease

Id Subject Object Predicate Lexical cue
8755918-1#89#92#gene472 160-163 gene472 denotes ATM
8755918-1#36#57#diseaseC0004135 107-128 diseaseC0004135 denotes ataxia-telangiectasia
8755918-1#59#62#diseaseC0004135 130-133 diseaseC0004135 denotes A-T
8755918-1#189#192#diseaseC0004135 260-263 diseaseC0004135 denotes A-T
89#92#gene47236#57#diseaseC0004135 8755918-1#89#92#gene472 8755918-1#36#57#diseaseC0004135 associated_with ATM,ataxia-telangiectasia
89#92#gene47259#62#diseaseC0004135 8755918-1#89#92#gene472 8755918-1#59#62#diseaseC0004135 associated_with ATM,A-T
89#92#gene472189#192#diseaseC0004135 8755918-1#89#92#gene472 8755918-1#189#192#diseaseC0004135 associated_with ATM,A-T

NCBIDiseaseCorpus

Id Subject Object Predicate Lexical cue
T1 48-69 SpecificDisease:D001260 denotes ataxia-telangiectasia
T2 107-128 SpecificDisease:D001260 denotes ataxia-telangiectasia
T3 130-133 SpecificDisease:D001260 denotes A-T
T4 260-263 Modifier:D001260 denotes A-T
T5 475-478 Modifier:D001260 denotes A-T
T6 823-840 SpecificDisease:D002524 denotes cerebellar ataxia
T7 1003-1006 Modifier:D001260 denotes A-T
T8 1094-1097 SpecificDisease:D001260 denotes A-T

ncbi-valid

Id Subject Object Predicate Lexical cue
T1 48-69 SpecificDisease denotes ataxia-telangiectasia
T2 107-128 SpecificDisease denotes ataxia-telangiectasia
T3 130-133 SpecificDisease denotes A-T
T4 260-263 Modifier denotes A-T
T5 475-478 Modifier denotes A-T
T6 823-840 SpecificDisease denotes cerebellar ataxia
T7 1003-1006 Modifier denotes A-T
T8 1094-1097 SpecificDisease denotes A-T

ncbi-valid-gpt-r-g

Id Subject Object Predicate Lexical cue
T1 48-69 SpecificDisease denotes ataxia-telangiectasia
T2 107-128 SpecificDisease denotes ataxia-telangiectasia
T3 130-133 SpecificDisease denotes A-T
T4 260-263 Modifier denotes A-T
T5 475-478 Modifier denotes A-T
T6 823-840 DiseaseClass denotes cerebellar ataxia
T7 1003-1006 Modifier denotes A-T
T8 1094-1097 SpecificDisease denotes A-T

ncbi-valid-gpt-nr-ng

Id Subject Object Predicate Lexical cue
T1 48-69 SpecificDisease denotes ataxia-telangiectasia
T2 107-134 CompositeMention denotes ataxia-telangiectasia (A-T)
T3 190-201 Modifier denotes less severe
T4 260-263 SpecificDisease denotes A-T
T5 475-478 SpecificDisease denotes A-T
T6 545-556 Modifier denotes less severe
T7 808-819 Modifier denotes later onset
T8 823-840 SpecificDisease denotes cerebellar ataxia
T9 986-999 Modifier denotes normally rare
T10 1003-1006 SpecificDisease denotes A-T
T11 1065-1080 Modifier denotes slightly milder
T12 1094-1097 SpecificDisease denotes A-T
T13 1212-1218 Modifier denotes milder

ncbi-valid-gpt-r-ng

Id Subject Object Predicate Lexical cue
T1 48-69 SpecificDisease denotes ataxia-telangiectasia
T2 107-128 SpecificDisease denotes ataxia-telangiectasia
T3 130-133 SpecificDisease denotes A-T
T4 260-263 SpecificDisease denotes A-T
T5 475-478 SpecificDisease denotes A-T
T6 823-840 SpecificDisease denotes cerebellar ataxia
T7 1003-1006 SpecificDisease denotes A-T
T8 1094-1097 SpecificDisease denotes A-T

ncbi-valid-gpt-nr-g

Id Subject Object Predicate Lexical cue
T1 48-69 SpecificDisease denotes ataxia-telangiectasia
T2 107-128 SpecificDisease denotes ataxia-telangiectasia
T3 130-133 SpecificDisease denotes A-T
T4 260-263 Modifier denotes A-T
T5 475-478 Modifier denotes A-T
T6 823-840 DiseaseClass denotes cerebellar ataxia
T7 1003-1006 Modifier denotes A-T
T8 1094-1097 SpecificDisease denotes A-T

ncbi-valid-gemini-r-g

Id Subject Object Predicate Lexical cue
T1 48-69 SpecificDisease denotes ataxia-telangiectasia
T2 107-128 SpecificDisease denotes ataxia-telangiectasia
T3 130-133 SpecificDisease denotes A-T
T4 260-263 SpecificDisease denotes A-T
T5 475-478 Modifier denotes A-T
T6 823-840 SpecificDisease denotes cerebellar ataxia
T7 1003-1006 Modifier denotes A-T

ncbi-valid-gemini-nr-g

Id Subject Object Predicate Lexical cue
T1 48-69 SpecificDisease denotes ataxia-telangiectasia
T2 130-133 SpecificDisease denotes A-T
T3 260-263 SpecificDisease denotes A-T
T4 475-478 SpecificDisease denotes A-T
T5 823-840 SpecificDisease denotes cerebellar ataxia

ncbi-valid-gemini-nr-ng

Id Subject Object Predicate Lexical cue
T1 48-69 SpecificDisease denotes ataxia-telangiectasia
T2 130-133 SpecificDisease denotes A-T
T3 260-263 SpecificDisease denotes A-T
T4 823-840 SpecificDisease denotes cerebellar ataxia
T5 1003-1006 SpecificDisease denotes A-T

ncbi-valid-deepseek-nr-ng

Id Subject Object Predicate Lexical cue
T1 0-9 CompositeMention denotes Mutations
T2 48-69 SpecificDisease denotes ataxia-telangiectasia
T3 130-133 SpecificDisease denotes A-T
T4 160-163 CompositeMention denotes ATM
T5 260-263 SpecificDisease denotes A-T
T6 475-478 SpecificDisease denotes A-T
T7 731-734 CompositeMention denotes PCR

ncbi-valid-deepseek-nr-g

Id Subject Object Predicate Lexical cue
T1 0-9 Modifier denotes Mutations
T2 48-69 SpecificDisease denotes ataxia-telangiectasia
T3 107-128 SpecificDisease denotes ataxia-telangiectasia
T4 130-133 SpecificDisease denotes A-T
T5 260-263 SpecificDisease denotes A-T
T6 475-478 SpecificDisease denotes A-T
T7 823-840 SpecificDisease denotes cerebellar ataxia

ncbi-valid-deepseek-r-g

Id Subject Object Predicate Lexical cue
T1 48-69 SpecificDisease denotes ataxia-telangiectasia
T2 107-128 SpecificDisease denotes ataxia-telangiectasia
T3 130-133 SpecificDisease denotes A-T
T4 260-263 SpecificDisease denotes A-T
T5 823-840 DiseaseClass denotes cerebellar ataxia

ncbi-valid-deepseek-r-ng

Id Subject Object Predicate Lexical cue
T1 26-44 CompositeMention denotes variant phenotypes
T2 48-69 SpecificDisease denotes ataxia-telangiectasia
T3 107-128 SpecificDisease denotes ataxia-telangiectasia
T4 130-133 SpecificDisease denotes A-T
T5 190-201 Modifier denotes less severe
T6 260-263 SpecificDisease denotes A-T
T7 360-376 CompositeMention denotes 137-bp insertion
T8 823-840 SpecificDisease denotes cerebellar ataxia
T9 966-984 CompositeMention denotes missense mutations
T10 1065-1080 Modifier denotes slightly milder

ncbi-valid-gemini-r-ng

Id Subject Object Predicate Lexical cue
T1 48-69 SpecificDisease denotes ataxia-telangiectasia
T2 107-128 SpecificDisease denotes ataxia-telangiectasia
T3 130-133 SpecificDisease denotes A-T
T4 190-201 Modifier denotes less severe
T5 260-263 SpecificDisease denotes A-T
T6 475-478 SpecificDisease denotes A-T
T7 545-556 Modifier denotes less severe
T8 808-813 Modifier denotes later
T9 823-840 SpecificDisease denotes cerebellar ataxia
T10 1003-1006 SpecificDisease denotes A-T
T11 1074-1080 Modifier denotes milder

ncbi-valid-gemini-r-m

Id Subject Object Predicate Lexical cue
T1 48-69 SpecificDisease denotes ataxia-telangiectasia
T2 107-128 SpecificDisease denotes ataxia-telangiectasia
T3 130-133 SpecificDisease denotes A-T
T4 260-263 Modifier denotes A-T
T5 475-478 Modifier denotes A-T
T6 823-840 SpecificDisease denotes cerebellar ataxia
T7 1003-1006 Modifier denotes A-T

ncbi-valid-gpt-r-m

Id Subject Object Predicate Lexical cue
T1 48-69 SpecificDisease denotes ataxia-telangiectasia
T2 107-128 SpecificDisease denotes ataxia-telangiectasia
T3 130-133 SpecificDisease denotes A-T
T4 260-263 Modifier denotes A-T
T5 475-478 Modifier denotes A-T
T6 823-840 DiseaseClass denotes cerebellar ataxia
T7 1003-1006 Modifier denotes A-T
T8 1094-1097 SpecificDisease denotes A-T

ncbi-valid-deepseek-r-m

Id Subject Object Predicate Lexical cue
T1 48-69 SpecificDisease denotes ataxia-telangiectasia
T2 107-128 SpecificDisease denotes ataxia-telangiectasia
T3 130-133 SpecificDisease denotes A-T
T4 260-263 Modifier denotes A-T
T5 475-478 Modifier denotes A-T
T6 823-840 SpecificDisease denotes cerebellar ataxia

NCBI-Disease-Develop

Id Subject Object Predicate Lexical cue database_id
T775 48-69 SpecificDisease denotes ataxia-telangiectasia D001260
T776 107-128 SpecificDisease denotes ataxia-telangiectasia D001260
T777 130-133 SpecificDisease denotes A-T D001260
T778 260-263 Modifier denotes A-T D001260
T779 475-478 Modifier denotes A-T D001260
T780 823-840 SpecificDisease denotes cerebellar ataxia D002524
T781 1003-1006 Modifier denotes A-T D001260
T782 1094-1097 SpecificDisease denotes A-T D001260

NCBI-Disease-Corpus-All

Id Subject Object Predicate Lexical cue database_id
T775 48-69 SpecificDisease denotes ataxia-telangiectasia D001260
T776 107-128 SpecificDisease denotes ataxia-telangiectasia D001260
T777 130-133 SpecificDisease denotes A-T D001260
T778 260-263 Modifier denotes A-T D001260
T779 475-478 Modifier denotes A-T D001260
T780 823-840 SpecificDisease denotes cerebellar ataxia D002524
T781 1003-1006 Modifier denotes A-T D001260
T782 1094-1097 SpecificDisease denotes A-T D001260

NCBI-Disease-Corpus-2stage-All

Id Subject Object Predicate Lexical cue
T1 48-69 Modifier denotes ataxia-telangiectasia
T2 107-128 Modifier denotes ataxia-telangiectasia
T3 130-133 SpecificDisease denotes A-T
T4 260-263 Modifier denotes A-T
T5 475-478 Modifier denotes A-T
T6 823-840 SpecificDisease denotes cerebellar ataxia
T7 1003-1006 Modifier denotes A-T
T8 1094-1097 Modifier denotes A-T

NCBI-Disease-Corpus-rezarta-All

Id Subject Object Predicate Lexical cue
T1 48-69 SpecificDisease denotes ataxia-telangiectasia
T2 107-128 SpecificDisease denotes ataxia-telangiectasia
T3 130-133 SpecificDisease denotes A-T
T4 260-263 SpecificDisease denotes A-T
T5 475-478 SpecificDisease denotes A-T
T6 823-840 SpecificDisease denotes cerebellar ataxia
T7 1003-1006 SpecificDisease denotes A-T
T8 1094-1097 SpecificDisease denotes A-T

NCBI-Disease-Corpus-4oGuideline-All

Id Subject Object Predicate Lexical cue
T1 48-69 SpecificDisease denotes ataxia-telangiectasia
T2 107-134 SpecificDisease denotes ataxia-telangiectasia (A-T)
T3 475-478 SpecificDisease denotes A-T
T4 823-840 SpecificDisease denotes cerebellar ataxia
T5 1003-1006 SpecificDisease denotes A-T
T6 1094-1097 SpecificDisease denotes A-T

NCBI-Disease-Corpus-Simple-All

Id Subject Object Predicate Lexical cue
T1 48-69 SpecificDisease denotes ataxia-telangiectasia
T2 107-134 SpecificDisease denotes ataxia-telangiectasia (A-T)
T3 823-840 SpecificDisease denotes cerebellar ataxia