> top > docs > PubMed:10426139 > annotations

PubMed:10426139 JSONTXT

Annnotations TAB JSON ListView MergeView

sentences

Id Subject Object Predicate Lexical cue
TextSentencer_T1 0-77 Sentence denotes A novel frameshift mutation in the McLeod syndrome gene in a Japanese family.
TextSentencer_T2 78-168 Sentence denotes We report a novel mutation in the XK gene (XK) in a Japanese patient with McLeod syndrome.
TextSentencer_T3 169-304 Sentence denotes A 50-year-old man showed progressive muscular atrophy, choreic movement, elevated level of serum creatinine kinase, and acanthocytosis.
TextSentencer_T4 305-477 Sentence denotes The expression level of all the Kell antigens in erythrocyte was decreased and molecular analysis revealed a single-base (T) deletion at the nucleotide position 1095 in XK.
TextSentencer_T5 478-593 Sentence denotes This deletion caused a frameshift in translation, leading to a premature stop codon at the amino acid position 408.
TextSentencer_T6 594-723 Sentence denotes We conclude this single-base deletion causes defective Kx protein, which is responsible for the McLeod phenotype in this patient.
T1 0-77 Sentence denotes A novel frameshift mutation in the McLeod syndrome gene in a Japanese family.
T2 78-168 Sentence denotes We report a novel mutation in the XK gene (XK) in a Japanese patient with McLeod syndrome.
T3 169-304 Sentence denotes A 50-year-old man showed progressive muscular atrophy, choreic movement, elevated level of serum creatinine kinase, and acanthocytosis.
T4 305-477 Sentence denotes The expression level of all the Kell antigens in erythrocyte was decreased and molecular analysis revealed a single-base (T) deletion at the nucleotide position 1095 in XK.
T5 478-593 Sentence denotes This deletion caused a frameshift in translation, leading to a premature stop codon at the amino acid position 408.
T6 594-723 Sentence denotes We conclude this single-base deletion causes defective Kx protein, which is responsible for the McLeod phenotype in this patient.

PubmedHPO

Id Subject Object Predicate Lexical cue
T1 206-222 HP_0003202 denotes muscular atrophy
T2 224-240 HP_0002072 denotes choreic movement
T3 289-303 HP_0001927 denotes acanthocytosis
T4 354-365 HP_0001901 denotes erythrocyte

PubCasesHPO

Id Subject Object Predicate Lexical cue
AB1 289-303 HP:0001927 denotes acanthocytosis

performance-test

Id Subject Object Predicate Lexical cue
PD-UBERON-AE-B_T1 260-265 http://purl.obolibrary.org/obo/UBERON_0001977 denotes serum

PubCasesORDO

Id Subject Object Predicate Lexical cue
AB1 194-222 ORDO:454706 denotes progressive muscular atrophy

UBERON-AE

Id Subject Object Predicate Lexical cue
PD-UBERON-AE-B_T1 260-265 http://purl.obolibrary.org/obo/UBERON_0001977 denotes serum

NCBIDiseaseCorpus

Id Subject Object Predicate Lexical cue
T1 35-50 Modifier:OMIM:300842 denotes McLeod syndrome
T2 152-167 SpecificDisease:OMIM:300842 denotes McLeod syndrome
T3 206-222 DiseaseClass:D009133 denotes muscular atrophy
T4 224-240 DiseaseClass:D002819 denotes choreic movement
T5 289-303 SpecificDisease:D000012 denotes acanthocytosis
T6 690-696 Modifier:OMIM:300842 denotes McLeod

NCBI-Disease-Train

Id Subject Object Predicate Lexical cue database_id
T3598 35-50 Modifier denotes McLeod syndrome OMIM:300842
T3599 152-167 SpecificDisease denotes McLeod syndrome OMIM:300842
T3600 206-222 DiseaseClass denotes muscular atrophy D009133
T3601 224-240 DiseaseClass denotes choreic movement D002819
T3602 289-303 SpecificDisease denotes acanthocytosis D000012
T3603 690-696 Modifier denotes McLeod OMIM:300842

NCBI-Disease-Corpus-All

Id Subject Object Predicate Lexical cue database_id
T3598 35-50 Modifier denotes McLeod syndrome OMIM:300842
T3599 152-167 SpecificDisease denotes McLeod syndrome OMIM:300842
T3600 206-222 DiseaseClass denotes muscular atrophy D009133
T3601 224-240 DiseaseClass denotes choreic movement D002819
T3602 289-303 SpecificDisease denotes acanthocytosis D000012
T3603 690-696 Modifier denotes McLeod OMIM:300842

NCBI-Disease-Corpus-2stage-All

Id Subject Object Predicate Lexical cue
T1 35-50 Modifier denotes McLeod syndrome
T2 152-167 SpecificDisease denotes McLeod syndrome
T3 690-696 SpecificDisease denotes McLeod

NCBI-Disease-Corpus-rezarta-All

Id Subject Object Predicate Lexical cue
T1 35-50 Modifier denotes McLeod syndrome
T2 152-167 SpecificDisease denotes McLeod syndrome

NCBI-Disease-Corpus-4oGuideline-All

Id Subject Object Predicate Lexical cue
T1 35-50 SpecificDisease denotes McLeod syndrome
T2 152-167 SpecificDisease denotes McLeod syndrome
T3 690-706 Modifier denotes McLeod phenotype

NCBI-Disease-Corpus-Simple-All

Id Subject Object Predicate Lexical cue
T1 35-50 SpecificDisease denotes McLeod syndrome
T2 152-167 SpecificDisease denotes McLeod syndrome
T3 289-303 DiseaseClass denotes acanthocytosis
T4 690-706 SpecificDisease denotes McLeod phenotype