| Id |
Subject |
Object |
Predicate |
Lexical cue |
db_id |
| 15 |
49-64 |
DiseaseOrPhenotypicFeature |
denotes |
phenylketonuria |
MESH:D010661 |
| 16 |
66-91 |
DiseaseOrPhenotypicFeature |
denotes |
Classical phenylketonuria |
MESH:D010661 |
| 17 |
98-125 |
DiseaseOrPhenotypicFeature |
denotes |
autosomal recessive disease |
MESH:D030342 |
| 18 |
138-185 |
DiseaseOrPhenotypicFeature |
denotes |
deficiency of hepatic phenylalanine hydroxylase |
OMIM:261600 |
| 19 |
187-190 |
GeneOrGeneProduct |
denotes |
PAH |
NCBIGene:5053 |
| 20 |
272-275 |
GeneOrGeneProduct |
denotes |
PAH |
NCBIGene:5053 |
| 21 |
362-376 |
SequenceVariant |
denotes |
272gly----stop |
DBSNP:rs62514952 |
| 22 |
381-394 |
SequenceVariant |
denotes |
273ser----phe |
DBSNP:rs62514953 |
| 23 |
606-609 |
DiseaseOrPhenotypicFeature |
denotes |
PKU |
MESH:D010661 |
| 24 |
684-700 |
DiseaseOrPhenotypicFeature |
denotes |
PAH deficiencies |
OMIM:261600 |