PubMed:7586656
Annnotations
DisGeNET
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T0 | 223-227 | gene:3251 | denotes | hprt |
| T1 | 307-327 | disease:C0023374 | denotes | Lesch-Nyhan syndrome |
| T2 | 274-278 | gene:3251 | denotes | HPRT |
| T3 | 279-296 | disease:C0149676 | denotes | enzyme deficiency |
| T4 | 274-278 | gene:3251 | denotes | HPRT |
| T5 | 307-327 | disease:C0023374 | denotes | Lesch-Nyhan syndrome |
| R1 | T0 | T1 | associated_with | hprt,Lesch-Nyhan syndrome |
| R2 | T2 | T3 | associated_with | HPRT,enzyme deficiency |
| R3 | T4 | T5 | associated_with | HPRT,Lesch-Nyhan syndrome |
DisGeNET5_gene_disease
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| 7586656-1#88#92#gene3251 | 223-227 | gene3251 | denotes | hprt |
| 7586656-1#139#143#gene3251 | 274-278 | gene3251 | denotes | HPRT |
| 7586656-1#172#192#diseaseC0023374 | 307-327 | diseaseC0023374 | denotes | Lesch-Nyhan syndrome |
| 88#92#gene3251172#192#diseaseC0023374 | 7586656-1#88#92#gene3251 | 7586656-1#172#192#diseaseC0023374 | associated_with | hprt,Lesch-Nyhan syndrome |
| 139#143#gene3251172#192#diseaseC0023374 | 7586656-1#139#143#gene3251 | 7586656-1#172#192#diseaseC0023374 | associated_with | HPRT,Lesch-Nyhan syndrome |
sentences
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| TextSentencer_T1 | 0-134 | Sentence | denotes | Southern analysis reveals a large deletion at the hypoxanthine phosphoribosyltransferase locus in a patient with Lesch-Nyhan syndrome. |
| TextSentencer_T2 | 135-328 | Sentence | denotes | Whole genomic hprt clones were used in Southern analysis to screen the integrity of the hprt gene in a family that includes a patient with HPRT enzyme deficiency causal to Lesch-Nyhan syndrome. |
| TextSentencer_T3 | 329-421 | Sentence | denotes | A 5 kb DNA sequence deletion was found to have its endpoints in the first and third introns. |
| TextSentencer_T4 | 422-550 | Sentence | denotes | The probes identified the carrier status of female family members, aided by an RFLP carried by the mother's normal X-chromosome. |
| T1 | 0-134 | Sentence | denotes | Southern analysis reveals a large deletion at the hypoxanthine phosphoribosyltransferase locus in a patient with Lesch-Nyhan syndrome. |
| T2 | 135-328 | Sentence | denotes | Whole genomic hprt clones were used in Southern analysis to screen the integrity of the hprt gene in a family that includes a patient with HPRT enzyme deficiency causal to Lesch-Nyhan syndrome. |
| T3 | 329-421 | Sentence | denotes | A 5 kb DNA sequence deletion was found to have its endpoints in the first and third introns. |
| T4 | 422-550 | Sentence | denotes | The probes identified the carrier status of female family members, aided by an RFLP carried by the mother's normal X-chromosome. |
PubCasesORDO
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| TI1 | 113-133 | ORDO:510 | denotes | Lesch-Nyhan syndrome |
| AB1 | 307-327 | ORDO:510 | denotes | Lesch-Nyhan syndrome |
NCBIDiseaseCorpus
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 113-133 | SpecificDisease:D007926 | denotes | Lesch-Nyhan syndrome |
| T2 | 274-296 | SpecificDisease:D007926 | denotes | HPRT enzyme deficiency |
| T3 | 307-327 | SpecificDisease:D007926 | denotes | Lesch-Nyhan syndrome |
NCBI-Disease-Train
| Id | Subject | Object | Predicate | Lexical cue | database_id |
|---|---|---|---|---|---|
| T603 | 113-133 | SpecificDisease | denotes | Lesch-Nyhan syndrome | D007926 |
| T604 | 274-296 | SpecificDisease | denotes | HPRT enzyme deficiency | D007926 |
| T605 | 307-327 | SpecificDisease | denotes | Lesch-Nyhan syndrome | D007926 |
NCBI-Disease-Corpus-All
| Id | Subject | Object | Predicate | Lexical cue | database_id |
|---|---|---|---|---|---|
| T603 | 113-133 | SpecificDisease | denotes | Lesch-Nyhan syndrome | D007926 |
| T604 | 274-296 | SpecificDisease | denotes | HPRT enzyme deficiency | D007926 |
| T605 | 307-327 | SpecificDisease | denotes | Lesch-Nyhan syndrome | D007926 |
NCBI-Disease-Corpus-2stage-All
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 113-133 | SpecificDisease | denotes | Lesch-Nyhan syndrome |
| T2 | 274-296 | Modifier | denotes | HPRT enzyme deficiency |
| T3 | 307-327 | SpecificDisease | denotes | Lesch-Nyhan syndrome |
NCBI-Disease-Corpus-rezarta-All
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 113-133 | SpecificDisease | denotes | Lesch-Nyhan syndrome |
| T2 | 274-296 | SpecificDisease | denotes | HPRT enzyme deficiency |
| T3 | 307-327 | SpecificDisease | denotes | Lesch-Nyhan syndrome |
NCBI-Disease-Corpus-4oGuideline-All
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 113-133 | SpecificDisease | denotes | Lesch-Nyhan syndrome |
| T2 | 274-296 | Modifier | denotes | HPRT enzyme deficiency |
| T3 | 307-327 | SpecificDisease | denotes | Lesch-Nyhan syndrome |
NCBI-Disease-Corpus-Simple-All
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 113-133 | SpecificDisease | denotes | Lesch-Nyhan syndrome |
| T2 | 274-327 | CompositeMention | denotes | HPRT enzyme deficiency causal to Lesch-Nyhan syndrome |