PubMed:1384323
Annnotations
sentences
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| TextSentencer_T1 | 0-102 | Sentence | denotes | A pseudodeficiency allele common in non-Jewish Tay-Sachs carriers: implications for carrier screening. |
| TextSentencer_T2 | 103-195 | Sentence | denotes | Deficiency of beta-hexosaminidase A (Hex A) activity typically results in Tay-Sachs disease. |
| TextSentencer_T3 | 196-345 | Sentence | denotes | However, healthy subjects found to be deficient in Hex A activity (i.e., pseudodeficient) by means of in vitro biochemical tests have been described. |
| TextSentencer_T4 | 346-565 | Sentence | denotes | We analyzed the HEXA gene of one pseudodeficient subject and identified both a C739-to-T substitution that changes Arg247----Trp on one allele and a previously identified Tay-Sachs disease mutation on the second allele. |
| TextSentencer_T5 | 566-648 | Sentence | denotes | Six additional pseudodeficient subjects were found to have the C739-to-T mutation. |
| TextSentencer_T6 | 649-860 | Sentence | denotes | This allele accounted for 32% (20/62) of non-Jewish enzyme-defined Tay-Sachs disease carriers but for none of 36 Jewish enzyme-defined carriers who did not have one of three known mutations common to this group. |
| TextSentencer_T7 | 861-962 | Sentence | denotes | The C739-to-T allele, together with a "true" Tay-Sachs disease allele, causes Hex A pseudodeficiency. |
| TextSentencer_T8 | 963-1240 | Sentence | denotes | Given both the large proportion of non-Jewish carriers with this allele and that standard biochemical screening cannot differentiate between heterozygotes for the C739-to-T mutations and Tay-Sachs disease carriers, DNA testing for this mutation in at-risk couples is essential. |
| TextSentencer_T9 | 1241-1304 | Sentence | denotes | This could prevent unnecessary or incorrect prenatal diagnoses. |
| T1 | 0-102 | Sentence | denotes | A pseudodeficiency allele common in non-Jewish Tay-Sachs carriers: implications for carrier screening. |
| T2 | 103-195 | Sentence | denotes | Deficiency of beta-hexosaminidase A (Hex A) activity typically results in Tay-Sachs disease. |
| T3 | 196-345 | Sentence | denotes | However, healthy subjects found to be deficient in Hex A activity (i.e., pseudodeficient) by means of in vitro biochemical tests have been described. |
| T4 | 346-565 | Sentence | denotes | We analyzed the HEXA gene of one pseudodeficient subject and identified both a C739-to-T substitution that changes Arg247----Trp on one allele and a previously identified Tay-Sachs disease mutation on the second allele. |
| T5 | 566-648 | Sentence | denotes | Six additional pseudodeficient subjects were found to have the C739-to-T mutation. |
| T6 | 649-860 | Sentence | denotes | This allele accounted for 32% (20/62) of non-Jewish enzyme-defined Tay-Sachs disease carriers but for none of 36 Jewish enzyme-defined carriers who did not have one of three known mutations common to this group. |
| T7 | 861-962 | Sentence | denotes | The C739-to-T allele, together with a "true" Tay-Sachs disease allele, causes Hex A pseudodeficiency. |
| T8 | 963-1240 | Sentence | denotes | Given both the large proportion of non-Jewish carriers with this allele and that standard biochemical screening cannot differentiate between heterozygotes for the C739-to-T mutations and Tay-Sachs disease carriers, DNA testing for this mutation in at-risk couples is essential. |
| T9 | 1241-1304 | Sentence | denotes | This could prevent unnecessary or incorrect prenatal diagnoses. |
DisGeNET5_variant_disease
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| 1384323-3#115#128#geners121907970 | 461-474 | geners121907970 | denotes | Arg247----Trp |
| 1384323-3#171#188#diseaseC0039373 | 517-534 | diseaseC0039373 | denotes | Tay-Sachs disease |
| 115#128#geners121907970171#188#diseaseC0039373 | 1384323-3#115#128#geners121907970 | 1384323-3#171#188#diseaseC0039373 | associated_with | Arg247----Trp,Tay-Sachs disease |
DisGeNET5_gene_disease
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| 1384323-1#14#33#gene10724 | 117-136 | gene10724 | denotes | beta-hexosaminidase |
| 1384323-1#74#91#diseaseC0039373 | 177-194 | diseaseC0039373 | denotes | Tay-Sachs disease |
| 1384323-3#16#20#gene3073 | 362-366 | gene3073 | denotes | HEXA |
| 1384323-3#171#188#diseaseC0039373 | 517-534 | diseaseC0039373 | denotes | Tay-Sachs disease |
| 14#33#gene1072474#91#diseaseC0039373 | 1384323-1#14#33#gene10724 | 1384323-1#74#91#diseaseC0039373 | associated_with | beta-hexosaminidase,Tay-Sachs disease |
| 16#20#gene3073171#188#diseaseC0039373 | 1384323-3#16#20#gene3073 | 1384323-3#171#188#diseaseC0039373 | associated_with | HEXA,Tay-Sachs disease |
PubCasesORDO
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| AB1 | 177-194 | ORDO:845 | denotes | Tay-Sachs disease |
| AB2 | 517-534 | ORDO:845 | denotes | Tay-Sachs disease |
| AB3 | 716-733 | ORDO:845 | denotes | Tay-Sachs disease |
| AB4 | 906-923 | ORDO:845 | denotes | Tay-Sachs disease |
| AB5 | 1150-1167 | ORDO:845 | denotes | Tay-Sachs disease |
NCBIDiseaseCorpus
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 47-56 | Modifier:D013661 | denotes | Tay-Sachs |
| T2 | 103-138 | SpecificDisease:D013661 | denotes | Deficiency of beta-hexosaminidase A |
| T3 | 177-194 | SpecificDisease:D013661 | denotes | Tay-Sachs disease |
| T4 | 234-252 | SpecificDisease:D013661 | denotes | deficient in Hex A |
| T5 | 517-534 | Modifier:D013661 | denotes | Tay-Sachs disease |
| T6 | 716-733 | Modifier:D013661 | denotes | Tay-Sachs disease |
| T7 | 906-923 | Modifier:D013661 | denotes | Tay-Sachs disease |
| T8 | 1150-1167 | Modifier:D013661 | denotes | Tay-Sachs disease |
DisGeNET
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T0 | 117-136 | gene:10724 | denotes | beta-hexosaminidase |
| T1 | 177-194 | disease:C0039373 | denotes | Tay-Sachs disease |
| T2 | 362-366 | gene:3073 | denotes | HEXA |
| T3 | 517-534 | disease:C0039373 | denotes | Tay-Sachs disease |
| R1 | T0 | T1 | associated_with | beta-hexosaminidase,Tay-Sachs disease |
| R2 | T2 | T3 | associated_with | HEXA,Tay-Sachs disease |
NCBI-Disease-Train
| Id | Subject | Object | Predicate | Lexical cue | database_id |
|---|---|---|---|---|---|
| T306 | 47-56 | Modifier | denotes | Tay-Sachs | D013661 |
| T307 | 103-138 | SpecificDisease | denotes | Deficiency of beta-hexosaminidase A | D013661 |
| T308 | 177-194 | SpecificDisease | denotes | Tay-Sachs disease | D013661 |
| T309 | 234-252 | SpecificDisease | denotes | deficient in Hex A | D013661 |
| T310 | 517-534 | Modifier | denotes | Tay-Sachs disease | D013661 |
| T311 | 716-733 | Modifier | denotes | Tay-Sachs disease | D013661 |
| T312 | 906-923 | Modifier | denotes | Tay-Sachs disease | D013661 |
| T313 | 1150-1167 | Modifier | denotes | Tay-Sachs disease | D013661 |
NCBI-Disease-Corpus-All
| Id | Subject | Object | Predicate | Lexical cue | database_id |
|---|---|---|---|---|---|
| T306 | 47-56 | Modifier | denotes | Tay-Sachs | D013661 |
| T307 | 103-138 | SpecificDisease | denotes | Deficiency of beta-hexosaminidase A | D013661 |
| T308 | 177-194 | SpecificDisease | denotes | Tay-Sachs disease | D013661 |
| T309 | 234-252 | SpecificDisease | denotes | deficient in Hex A | D013661 |
| T310 | 517-534 | Modifier | denotes | Tay-Sachs disease | D013661 |
| T311 | 716-733 | Modifier | denotes | Tay-Sachs disease | D013661 |
| T312 | 906-923 | Modifier | denotes | Tay-Sachs disease | D013661 |
| T313 | 1150-1167 | Modifier | denotes | Tay-Sachs disease | D013661 |
NCBI-Disease-Corpus-2stage-All
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 47-56 | Modifier | denotes | Tay-Sachs |
| T2 | 177-194 | SpecificDisease | denotes | Tay-Sachs disease |
| T3 | 517-534 | SpecificDisease | denotes | Tay-Sachs disease |
| T4 | 716-733 | Modifier | denotes | Tay-Sachs disease |
| T5 | 906-923 | Modifier | denotes | Tay-Sachs disease |
| T6 | 1150-1167 | Modifier | denotes | Tay-Sachs disease |
NCBI-Disease-Corpus-rezarta-All
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 47-56 | Modifier | denotes | Tay-Sachs |
| T2 | 177-194 | SpecificDisease | denotes | Tay-Sachs disease |
| T3 | 517-534 | Modifier | denotes | Tay-Sachs disease |
| T4 | 716-733 | Modifier | denotes | Tay-Sachs disease |
| T5 | 906-923 | Modifier | denotes | Tay-Sachs disease |
| T6 | 1150-1167 | Modifier | denotes | Tay-Sachs disease |
NCBI-Disease-Corpus-4oGuideline-All
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 47-56 | Modifier | denotes | Tay-Sachs |
| T2 | 177-194 | SpecificDisease | denotes | Tay-Sachs disease |
| T3 | 517-534 | SpecificDisease | denotes | Tay-Sachs disease |
| T4 | 716-733 | Modifier | denotes | Tay-Sachs disease |
| T5 | 906-923 | Modifier | denotes | Tay-Sachs disease |
| T6 | 1150-1167 | Modifier | denotes | Tay-Sachs disease |
NCBI-Disease-Corpus-Simple-All
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 47-56 | SpecificDisease | denotes | Tay-Sachs |
| T2 | 177-194 | SpecificDisease | denotes | Tay-Sachs disease |
| T3 | 517-534 | SpecificDisease | denotes | Tay-Sachs disease |
| T4 | 716-733 | SpecificDisease | denotes | Tay-Sachs disease |
| T5 | 906-923 | SpecificDisease | denotes | Tay-Sachs disease |
| T6 | 1150-1167 | SpecificDisease | denotes | Tay-Sachs disease |