PubMed:1361100
Annnotations
DisGeNET5_variant_disease
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| 1361100-3#127#132#geners5030858 | 481-486 | geners5030858 | denotes | R408W |
| 1361100-3#356#359#diseaseC0031485 | 710-713 | diseaseC0031485 | denotes | PKU |
| 127#132#geners5030858356#359#diseaseC0031485 | 1361100-3#127#132#geners5030858 | 1361100-3#356#359#diseaseC0031485 | associated_with | R408W,PKU |
DisGeNET5_gene_disease
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| 1361100-1#196#199#gene5053 | 244-247 | gene5053 | denotes | PAH |
| 1361100-1#25#58#diseaseC0002514 | 73-106 | diseaseC0002514 | denotes | disorder of amino acid metabolism |
| 1361100-3#86#89#gene5053 | 440-443 | gene5053 | denotes | PAH |
| 1361100-3#356#359#diseaseC0031485 | 710-713 | diseaseC0031485 | denotes | PKU |
| 196#199#gene505325#58#diseaseC0002514 | 1361100-1#196#199#gene5053 | 1361100-1#25#58#diseaseC0002514 | associated_with | PAH,disorder of amino acid metabolism |
| 86#89#gene5053356#359#diseaseC0031485 | 1361100-3#86#89#gene5053 | 1361100-3#356#359#diseaseC0031485 | associated_with | PAH,PKU |
NCBIDiseaseCorpus
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 21-36 | SpecificDisease:D010661 | denotes | phenylketonuria |
| T2 | 48-63 | SpecificDisease:D010661 | denotes | Phenylketonuria |
| T3 | 65-68 | SpecificDisease:D010661 | denotes | PKU |
| T4 | 73-106 | DiseaseClass:D000592 | denotes | disorder of amino acid metabolism |
| T5 | 184-242 | SpecificDisease:OMIM:261600 | denotes | deficiency of the hepatic enzyme phenylalanine hydroxylase |
| T6 | 250-253 | SpecificDisease:D010661 | denotes | PKU |
| T7 | 710-713 | Modifier:D010661 | denotes | PKU |
| T8 | 1388-1391 | SpecificDisease:D010661 | denotes | PKU |
DisGeNET
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T0 | 217-242 | gene:5053 | denotes | phenylalanine hydroxylase |
| T1 | 73-106 | disease:C0002514 | denotes | disorder of amino acid metabolism |
| T2 | 244-247 | gene:5053 | denotes | PAH |
| T3 | 48-68 | disease:C0031485 | denotes | Phenylketonuria (PKU |
| T4 | 244-247 | gene:5053 | denotes | PAH |
| T5 | 48-68 | disease:C0751434 | denotes | Phenylketonuria (PKU |
| T6 | 244-247 | gene:5053 | denotes | PAH |
| T7 | 73-106 | disease:C0002514 | denotes | disorder of amino acid metabolism |
| R1 | T0 | T1 | associated_with | phenylalanine hydroxylase,disorder of amino acid metabolism |
| R2 | T2 | T3 | associated_with | PAH,Phenylketonuria (PKU |
| R3 | T4 | T5 | associated_with | PAH,Phenylketonuria (PKU |
| R4 | T6 | T7 | associated_with | PAH,disorder of amino acid metabolism |
NCBI-Disease-Train
| Id | Subject | Object | Predicate | Lexical cue | database_id |
|---|---|---|---|---|---|
| T4285 | 21-36 | SpecificDisease | denotes | phenylketonuria | D010661 |
| T4286 | 48-63 | SpecificDisease | denotes | Phenylketonuria | D010661 |
| T4287 | 65-68 | SpecificDisease | denotes | PKU | D010661 |
| T4288 | 73-106 | DiseaseClass | denotes | disorder of amino acid metabolism | D000592 |
| T4289 | 184-242 | SpecificDisease | denotes | deficiency of the hepatic enzyme phenylalanine hydroxylase | OMIM:261600 |
| T4290 | 250-253 | SpecificDisease | denotes | PKU | D010661 |
| T4291 | 710-713 | Modifier | denotes | PKU | D010661 |
| T4292 | 1388-1391 | SpecificDisease | denotes | PKU | D010661 |
NCBI-Disease-Corpus-All
| Id | Subject | Object | Predicate | Lexical cue | database_id |
|---|---|---|---|---|---|
| T4285 | 21-36 | SpecificDisease | denotes | phenylketonuria | D010661 |
| T4286 | 48-63 | SpecificDisease | denotes | Phenylketonuria | D010661 |
| T4287 | 65-68 | SpecificDisease | denotes | PKU | D010661 |
| T4288 | 73-106 | DiseaseClass | denotes | disorder of amino acid metabolism | D000592 |
| T4289 | 184-242 | SpecificDisease | denotes | deficiency of the hepatic enzyme phenylalanine hydroxylase | OMIM:261600 |
| T4290 | 250-253 | SpecificDisease | denotes | PKU | D010661 |
| T4291 | 710-713 | Modifier | denotes | PKU | D010661 |
| T4292 | 1388-1391 | SpecificDisease | denotes | PKU | D010661 |
NCBI-Disease-Corpus-2stage-All
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 21-36 | SpecificDisease | denotes | phenylketonuria |
| T2 | 48-63 | SpecificDisease | denotes | Phenylketonuria |
| T3 | 65-68 | SpecificDisease | denotes | PKU |
| T4 | 250-253 | SpecificDisease | denotes | PKU |
| T5 | 710-713 | SpecificDisease | denotes | PKU |
| T6 | 1388-1391 | SpecificDisease | denotes | PKU |
NCBI-Disease-Corpus-rezarta-All
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 21-36 | SpecificDisease | denotes | phenylketonuria |
| T2 | 48-63 | SpecificDisease | denotes | Phenylketonuria |
| T3 | 65-68 | SpecificDisease | denotes | PKU |
| T4 | 250-253 | SpecificDisease | denotes | PKU |
| T5 | 710-713 | Modifier | denotes | PKU |
| T6 | 1388-1391 | SpecificDisease | denotes | PKU |
NCBI-Disease-Corpus-4oGuideline-All
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 21-36 | SpecificDisease | denotes | phenylketonuria |
| T2 | 48-69 | SpecificDisease | denotes | Phenylketonuria (PKU) |
| T3 | 250-253 | SpecificDisease | denotes | PKU |
| T4 | 710-713 | SpecificDisease | denotes | PKU |
| T5 | 1388-1391 | SpecificDisease | denotes | PKU |
NCBI-Disease-Corpus-Simple-All
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 21-36 | SpecificDisease | denotes | phenylketonuria |
| T2 | 48-69 | SpecificDisease | denotes | Phenylketonuria (PKU) |
| T3 | 250-253 | SpecificDisease | denotes | PKU |
| T4 | 710-713 | SpecificDisease | denotes | PKU |
| T5 | 1388-1391 | SpecificDisease | denotes | PKU |