PubMed:2008213
Annnotations
sentences
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| TextSentencer_T1 | 0-84 | Sentence | denotes | Glucose/galactose malabsorption caused by a defect in the Na+/glucose cotransporter. |
| TextSentencer_T2 | 85-300 | Sentence | denotes | Glucose/galactose malabsorption (GGM) is an autosomal recessive disease manifesting within the first weeks of life and characterized by a selective failure to absorb dietary glucose and galactose from the intestine. |
| TextSentencer_T3 | 301-416 | Sentence | denotes | The consequent severe diarrhoea and dehydration are usually fatal unless these sugars are eliminated from the diet. |
| TextSentencer_T4 | 417-546 | Sentence | denotes | Intestinal biopsies of GGM patients have revealed a specific defect in Na(+)-dependent absorption of glucose in the brush border. |
| TextSentencer_T5 | 547-676 | Sentence | denotes | Normal glucose absorption is mediated by the Na+/glucose cotransporter in the brush border membrane of the intestinal epithelium. |
| TextSentencer_T6 | 677-872 | Sentence | denotes | Cellular influx is driven by the transmembrane Na+ electrochemical potential gradient; thereafter the sugar moves to the blood across the basolateral membrane via the facilitated glucose carrier. |
| TextSentencer_T7 | 873-1043 | Sentence | denotes | We have previously cloned and sequenced a Na+/glucose cotransporter from normal human ileum and shown that this gene, SGLT1, resides on the distal q arm of chromosome 22. |
| TextSentencer_T8 | 1044-1182 | Sentence | denotes | We have now amplified SGLT1 complementary DNA and genomic DNA from members of a family affected with GGM by the polymerase chain reaction. |
| TextSentencer_T9 | 1183-1442 | Sentence | denotes | Sequence analysis of the amplified products has revealed a single missense mutation in SGLT1 which cosegregates with the GGM phenotype and results in a complete loss of Na(+)-dependent glucose transport in Xenopus oocytes injected with this complementary RNA. |
| T1 | 0-84 | Sentence | denotes | Glucose/galactose malabsorption caused by a defect in the Na+/glucose cotransporter. |
| T2 | 85-300 | Sentence | denotes | Glucose/galactose malabsorption (GGM) is an autosomal recessive disease manifesting within the first weeks of life and characterized by a selective failure to absorb dietary glucose and galactose from the intestine. |
| T3 | 301-416 | Sentence | denotes | The consequent severe diarrhoea and dehydration are usually fatal unless these sugars are eliminated from the diet. |
| T4 | 417-546 | Sentence | denotes | Intestinal biopsies of GGM patients have revealed a specific defect in Na(+)-dependent absorption of glucose in the brush border. |
| T5 | 547-676 | Sentence | denotes | Normal glucose absorption is mediated by the Na+/glucose cotransporter in the brush border membrane of the intestinal epithelium. |
| T6 | 677-872 | Sentence | denotes | Cellular influx is driven by the transmembrane Na+ electrochemical potential gradient; thereafter the sugar moves to the blood across the basolateral membrane via the facilitated glucose carrier. |
| T7 | 873-1043 | Sentence | denotes | We have previously cloned and sequenced a Na+/glucose cotransporter from normal human ileum and shown that this gene, SGLT1, resides on the distal q arm of chromosome 22. |
| T8 | 1044-1182 | Sentence | denotes | We have now amplified SGLT1 complementary DNA and genomic DNA from members of a family affected with GGM by the polymerase chain reaction. |
| T9 | 1183-1442 | Sentence | denotes | Sequence analysis of the amplified products has revealed a single missense mutation in SGLT1 which cosegregates with the GGM phenotype and results in a complete loss of Na(+)-dependent glucose transport in Xenopus oocytes injected with this complementary RNA. |
DisGeNET
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T0 | 1066-1071 | gene:6523 | denotes | SGLT1 |
| T1 | 1145-1148 | disease:C0268186 | denotes | GGM |
| R1 | T0 | T1 | associated_with | SGLT1,GGM |
PubmedHPO
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 103-116 | HP_0002024 | denotes | malabsorption |
| T2 | 129-148 | HP_0000007 | denotes | autosomal recessive |
| T3 | 337-348 | HP_0001944 | denotes | dehydration |
DisGeNET5_gene_disease
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| 2008213-8#87#92#gene6523 | 1270-1275 | gene6523 | denotes | SGLT1 |
| 2008213-8#121#124#diseaseC0268186 | 1304-1307 | diseaseC0268186 | denotes | GGM |
| 87#92#gene6523121#124#diseaseC0268186 | 2008213-8#87#92#gene6523 | 2008213-8#121#124#diseaseC0268186 | associated_with | SGLT1,GGM |
performance-test
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| PD-UBERON-AE-B_T1 | 798-803 | http://purl.obolibrary.org/obo/UBERON_0000178 | denotes | blood |
| PD-UBERON-AE-B_T2 | 290-299 | http://purl.obolibrary.org/obo/UBERON_0000160 | denotes | intestine |
| PD-UBERON-AE-B_T3 | 417-427 | http://purl.obolibrary.org/obo/UBERON_0000160 | denotes | Intestinal |
| PD-UBERON-AE-B_T4 | 654-664 | http://purl.obolibrary.org/obo/UBERON_0000160 | denotes | intestinal |
| PD-UBERON-AE-B_T5 | 654-675 | http://purl.obolibrary.org/obo/UBERON_0001277 | denotes | intestinal epithelium |
| PD-UBERON-AE-B_T6 | 665-675 | http://purl.obolibrary.org/obo/UBERON_0000483 | denotes | epithelium |
| PD-UBERON-AE-B_T7 | 959-964 | http://purl.obolibrary.org/obo/UBERON_0002116 | denotes | ileum |
| PD-UBERON-AE-B_T8 | 1022-1025 | http://purl.obolibrary.org/obo/UBERON_0001460 | denotes | arm |
UBERON-AE
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| PD-UBERON-AE-B_T1 | 290-299 | http://purl.obolibrary.org/obo/UBERON_0000160 | denotes | intestine |
| PD-UBERON-AE-B_T2 | 654-664 | http://purl.obolibrary.org/obo/UBERON_0000160 | denotes | intestinal |
| PD-UBERON-AE-B_T3 | 654-675 | http://purl.obolibrary.org/obo/UBERON_0001277 | denotes | intestinal epithelium |
| PD-UBERON-AE-B_T4 | 665-675 | http://purl.obolibrary.org/obo/UBERON_0000483 | denotes | epithelium |
| PD-UBERON-AE-B_T5 | 798-803 | http://purl.obolibrary.org/obo/UBERON_0000178 | denotes | blood |
| PD-UBERON-AE-B_T6 | 959-964 | http://purl.obolibrary.org/obo/UBERON_0002116 | denotes | ileum |
| PD-UBERON-AE-B_T7 | 1022-1025 | http://purl.obolibrary.org/obo/UBERON_0001460 | denotes | arm |
PubCasesHPO
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| AB1 | 103-116 | HP:0002024 | denotes | malabsorption |
| AB2 | 337-348 | HP:0001944 | denotes | dehydration |
PubCasesORDO
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| TI1 | 0-31 | ORDO:35710 | denotes | Glucose/galactose malabsorption |
NCBIDiseaseCorpus
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 0-31 | SpecificDisease:OMIM:606824 | denotes | Glucose/galactose malabsorption |
| T2 | 85-116 | SpecificDisease:OMIM:606824 | denotes | Glucose/galactose malabsorption |
| T3 | 118-121 | SpecificDisease:OMIM:606824 | denotes | GGM |
| T4 | 129-156 | DiseaseClass:D030342 | denotes | autosomal recessive disease |
| T5 | 323-332 | SpecificDisease:D003967 | denotes | diarrhoea |
| T6 | 337-348 | SpecificDisease:D003681 | denotes | dehydration |
| T7 | 440-443 | Modifier:OMIM:606824 | denotes | GGM |
| T8 | 1145-1148 | SpecificDisease:OMIM:606824 | denotes | GGM |
| T9 | 1304-1307 | Modifier:OMIM:606824 | denotes | GGM |
NCBI-Disease-Train
| Id | Subject | Object | Predicate | Lexical cue | database_id |
|---|---|---|---|---|---|
| T2250 | 0-31 | SpecificDisease | denotes | Glucose/galactose malabsorption | OMIM:606824 |
| T2251 | 85-116 | SpecificDisease | denotes | Glucose/galactose malabsorption | OMIM:606824 |
| T2252 | 118-121 | SpecificDisease | denotes | GGM | OMIM:606824 |
| T2253 | 129-156 | DiseaseClass | denotes | autosomal recessive disease | D030342 |
| T2254 | 323-332 | SpecificDisease | denotes | diarrhoea | D003967 |
| T2255 | 337-348 | SpecificDisease | denotes | dehydration | D003681 |
| T2256 | 440-443 | Modifier | denotes | GGM | OMIM:606824 |
| T2257 | 1145-1148 | SpecificDisease | denotes | GGM | OMIM:606824 |
| T2258 | 1304-1307 | Modifier | denotes | GGM | OMIM:606824 |
NCBI-Disease-Corpus-All
| Id | Subject | Object | Predicate | Lexical cue | database_id |
|---|---|---|---|---|---|
| T2250 | 0-31 | SpecificDisease | denotes | Glucose/galactose malabsorption | OMIM:606824 |
| T2251 | 85-116 | SpecificDisease | denotes | Glucose/galactose malabsorption | OMIM:606824 |
| T2252 | 118-121 | SpecificDisease | denotes | GGM | OMIM:606824 |
| T2253 | 129-156 | DiseaseClass | denotes | autosomal recessive disease | D030342 |
| T2254 | 323-332 | SpecificDisease | denotes | diarrhoea | D003967 |
| T2255 | 337-348 | SpecificDisease | denotes | dehydration | D003681 |
| T2256 | 440-443 | Modifier | denotes | GGM | OMIM:606824 |
| T2257 | 1145-1148 | SpecificDisease | denotes | GGM | OMIM:606824 |
| T2258 | 1304-1307 | Modifier | denotes | GGM | OMIM:606824 |
NCBI-Disease-Corpus-2stage-All
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 85-116 | SpecificDisease | denotes | Glucose/galactose malabsorption |
| T2 | 118-121 | SpecificDisease | denotes | GGM |
| T3 | 440-443 | SpecificDisease | denotes | GGM |
| T4 | 1145-1148 | SpecificDisease | denotes | GGM |
| T5 | 1304-1307 | SpecificDisease | denotes | GGM |
NCBI-Disease-Corpus-rezarta-All
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 85-116 | SpecificDisease | denotes | Glucose/galactose malabsorption |
| T2 | 118-121 | SpecificDisease | denotes | GGM |
| T3 | 440-443 | Modifier | denotes | GGM |
| T4 | 1145-1148 | Modifier | denotes | GGM |
| T5 | 1304-1307 | Modifier | denotes | GGM |
NCBI-Disease-Corpus-4oGuideline-All
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 85-116 | SpecificDisease | denotes | Glucose/galactose malabsorption |
| T2 | 129-156 | DiseaseClass | denotes | autosomal recessive disease |
| T3 | 440-443 | SpecificDisease | denotes | GGM |
| T4 | 1145-1148 | SpecificDisease | denotes | GGM |
| T5 | 1304-1307 | SpecificDisease | denotes | GGM |
NCBI-Disease-Corpus-Simple-All
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 85-122 | SpecificDisease | denotes | Glucose/galactose malabsorption (GGM) |
| T2 | 149-156 | SpecificDisease | denotes | disease |
| T3 | 323-332 | SpecificDisease | denotes | diarrhoea |
| T4 | 337-348 | SpecificDisease | denotes | dehydration |
| T5 | 440-443 | SpecificDisease | denotes | GGM |
| T6 | 1145-1148 | SpecificDisease | denotes | GGM |
| T7 | 1304-1317 | SpecificDisease | denotes | GGM phenotype |