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PubMed:23528852 JSONTXT

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sentences

Id Subject Object Predicate Lexical cue
TextSentencer_T1 0-81 Sentence denotes A case of TUBA1A mutation presenting with lissencephaly and Hirschsprung disease.
TextSentencer_T2 82-240 Sentence denotes Gene mutation of tubulin alpha-1A (TUBA1A), a critical component of microtubules of the cytoskeleton, impairs neural migration and causes lissencephaly (LIS).
TextSentencer_T3 241-366 Sentence denotes The approximately 45 cases of disease-associated TUBA1A mutations reported to date demonstrate a wide spectrum of phenotypes.
TextSentencer_T4 367-524 Sentence denotes Here we describe an 8-year-old girl with lissencephaly, microcephaly, and early-onset epileptic seizures associated with a novel mutation in the TUBA1A gene.
TextSentencer_T5 525-720 Sentence denotes The patient developed Hirschsprung disease and the syndrome of inappropriate antidiuretic hormone secretion (SIADH), which had not previously been described in TUBA1A mutation-associated disease.
TextSentencer_T6 721-828 Sentence denotes Our case provides new insight into the wide spectrum of disease phenotypes associated with TUBA1A mutation.
T1 0-81 Sentence denotes A case of TUBA1A mutation presenting with lissencephaly and Hirschsprung disease.
T2 82-240 Sentence denotes Gene mutation of tubulin alpha-1A (TUBA1A), a critical component of microtubules of the cytoskeleton, impairs neural migration and causes lissencephaly (LIS).
T3 241-366 Sentence denotes The approximately 45 cases of disease-associated TUBA1A mutations reported to date demonstrate a wide spectrum of phenotypes.
T4 367-524 Sentence denotes Here we describe an 8-year-old girl with lissencephaly, microcephaly, and early-onset epileptic seizures associated with a novel mutation in the TUBA1A gene.
T5 525-720 Sentence denotes The patient developed Hirschsprung disease and the syndrome of inappropriate antidiuretic hormone secretion (SIADH), which had not previously been described in TUBA1A mutation-associated disease.
T6 721-828 Sentence denotes Our case provides new insight into the wide spectrum of disease phenotypes associated with TUBA1A mutation.

DisGeNET

Id Subject Object Predicate Lexical cue
T0 10-16 gene:7846 denotes TUBA1A
T1 42-55 disease:C0266463 denotes lissencephaly
T2 10-16 gene:7846 denotes TUBA1A
T3 60-80 disease:C0019569 denotes Hirschsprung disease
T4 10-16 gene:7846 denotes TUBA1A
T5 60-80 disease:C2931876 denotes Hirschsprung disease
T6 99-115 gene:7846 denotes tubulin alpha-1A
T7 220-233 disease:C0266463 denotes lissencephaly
T8 117-123 gene:7846 denotes TUBA1A
T9 235-238 disease:C0266463 denotes LIS
T10 117-123 gene:7846 denotes TUBA1A
T11 220-233 disease:C0266463 denotes lissencephaly
T12 512-518 gene:7846 denotes TUBA1A
T13 453-471 disease:C0014544 denotes epileptic seizures
T14 685-691 gene:7846 denotes TUBA1A
T15 547-567 disease:C0019569 denotes Hirschsprung disease
T16 685-691 gene:7846 denotes TUBA1A
T17 547-567 disease:C2931876 denotes Hirschsprung disease
R1 T0 T1 associated_with TUBA1A,lissencephaly
R2 T2 T3 associated_with TUBA1A,Hirschsprung disease
R3 T4 T5 associated_with TUBA1A,Hirschsprung disease
R4 T6 T7 associated_with tubulin alpha-1A,lissencephaly
R5 T8 T9 associated_with TUBA1A,LIS
R6 T10 T11 associated_with TUBA1A,lissencephaly
R7 T12 T13 associated_with TUBA1A,epileptic seizures
R8 T14 T15 associated_with TUBA1A,Hirschsprung disease
R9 T16 T17 associated_with TUBA1A,Hirschsprung disease

Allie

Id Subject Object Predicate Lexical cue
SS1_23528852_1_0 99-115 expanded denotes tubulin alpha-1A
SS2_23528852_1_0 117-123 abbr denotes TUBA1A
SS1_23528852_1_1 220-233 expanded denotes lissencephaly
SS2_23528852_1_1 235-238 abbr denotes LIS
SS1_23528852_4_0 576-632 expanded denotes syndrome of inappropriate antidiuretic hormone secretion
SS2_23528852_4_0 634-639 abbr denotes SIADH
AE1_23528852_1_0 SS1_23528852_1_0 SS2_23528852_1_0 abbreviatedTo tubulin alpha-1A,TUBA1A
AE1_23528852_1_1 SS1_23528852_1_1 SS2_23528852_1_1 abbreviatedTo lissencephaly,LIS
AE1_23528852_4_0 SS1_23528852_4_0 SS2_23528852_4_0 abbreviatedTo syndrome of inappropriate antidiuretic hormone secretion,SIADH

PubmedHPO

Id Subject Object Predicate Lexical cue
T1 220-233 HP_0001339 denotes lissencephaly
T2 408-421 HP_0001339 denotes lissencephaly
T3 423-435 HP_0000252 denotes microcephaly
T4 463-471 HP_0001250 denotes seizures
T5 547-567 HP_0002251 denotes Hirschsprung disease

DisGeNET5_gene_disease

Id Subject Object Predicate Lexical cue
23528852-0#10#16#gene7846 290-296 gene7846 denotes TUBA1A
23528852-0#42#55#diseaseC0266463 408-421 diseaseC0266463 denotes lissencephaly
23528852-3#145#151#gene7846 512-518 gene7846 denotes TUBA1A
23528852-3#86#104#diseaseC0014544 453-471 diseaseC0014544 denotes epileptic seizures
10#16#gene784642#55#diseaseC0266463 23528852-0#10#16#gene7846 23528852-0#42#55#diseaseC0266463 associated_with TUBA1A,lissencephaly
145#151#gene784686#104#diseaseC0014544 23528852-3#145#151#gene7846 23528852-3#86#104#diseaseC0014544 associated_with TUBA1A,epileptic seizures

PubCasesHPO

Id Subject Object Predicate Lexical cue
TI1 42-55 HP:0001339 denotes lissencephaly
AB1 220-233 HP:0001339 denotes lissencephaly
AB2 408-421 HP:0001339 denotes lissencephaly
AB3 423-435 HP:0000252 denotes microcephaly
AB4 463-471 HP:0001250 denotes seizures

PubCasesORDO

Id Subject Object Predicate Lexical cue
TI1 60-80 ORDO:388 denotes Hirschsprung disease
AB1 547-567 ORDO:388 denotes Hirschsprung disease