
PubMed:23528852
Annnotations
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 |