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sentences

Id	Subject	Object	Predicate	Lexical cue
TextSentencer_T1	0-118	Sentence	denotes	A 3-base pair in-frame deletion of the phenylalanine hydroxylase gene results in a kinetic variant of phenylketonuria.
TextSentencer_T2	119-246	Sentence	denotes	Phenylketonuria (PKU) is an autosomal recessive disease due to deficiency of a hepatic enzyme, phenylalanine hydroxylase (PAH).
TextSentencer_T3	247-389	Sentence	denotes	The absence of PAH activity results in typical PKU while persistence of a residual enzyme activity gives rise to variant forms of the disease.
TextSentencer_T4	390-656	Sentence	denotes	We report here a 3-base pair in-frame deletion of the PAH gene (delta 194) in a mild variant, with markedly reduced affinity of the enzyme for phenylalanine (Km = 160 nM), and we provide functional evidence for responsibility of the deletion in the mutant phenotype.
TextSentencer_T5	657-857	Sentence	denotes	Since the deletion was located in the third exon of the gene, which presents no homology with other hydroxylases, we suggest that exon 3 is involved in the specificity of the enzyme for phenylalanine.
TextSentencer_T6	858-1078	Sentence	denotes	Finally, since none of the 98 PKU patients tested were found to carry this particular deletion, our study suggests that this molecular event probably occurred recently on the background of a haplotype 2 gene in Portugal.
T1	0-118	Sentence	denotes	A 3-base pair in-frame deletion of the phenylalanine hydroxylase gene results in a kinetic variant of phenylketonuria.
T2	119-246	Sentence	denotes	Phenylketonuria (PKU) is an autosomal recessive disease due to deficiency of a hepatic enzyme, phenylalanine hydroxylase (PAH).
T3	247-389	Sentence	denotes	The absence of PAH activity results in typical PKU while persistence of a residual enzyme activity gives rise to variant forms of the disease.
T4	390-656	Sentence	denotes	We report here a 3-base pair in-frame deletion of the PAH gene (delta 194) in a mild variant, with markedly reduced affinity of the enzyme for phenylalanine (Km = 160 nM), and we provide functional evidence for responsibility of the deletion in the mutant phenotype.
T5	657-857	Sentence	denotes	Since the deletion was located in the third exon of the gene, which presents no homology with other hydroxylases, we suggest that exon 3 is involved in the specificity of the enzyme for phenylalanine.
T6	858-1078	Sentence	denotes	Finally, since none of the 98 PKU patients tested were found to carry this particular deletion, our study suggests that this molecular event probably occurred recently on the background of a haplotype 2 gene in Portugal.

DisGeNET

Id	Subject	Object	Predicate	Lexical cue
T0	39-64	gene:5053	denotes	phenylalanine hydroxylase
T1	102-117	disease:C0031485	denotes	phenylketonuria
T2	39-64	gene:5053	denotes	phenylalanine hydroxylase
T3	102-117	disease:C0751434	denotes	phenylketonuria
T4	214-239	gene:5053	denotes	phenylalanine hydroxylase
T5	119-139	disease:C0751434	denotes	Phenylketonuria (PKU
T6	214-239	gene:5053	denotes	phenylalanine hydroxylase
T7	119-139	disease:C0031485	denotes	Phenylketonuria (PKU
T8	241-244	gene:5053	denotes	PAH
T9	119-139	disease:C0031485	denotes	Phenylketonuria (PKU
T10	241-244	gene:5053	denotes	PAH
T11	119-139	disease:C0751434	denotes	Phenylketonuria (PKU
R1	T0	T1	associated_with	phenylalanine hydroxylase,phenylketonuria
R2	T2	T3	associated_with	phenylalanine hydroxylase,phenylketonuria
R3	T4	T5	associated_with	phenylalanine hydroxylase,Phenylketonuria (PKU
R4	T6	T7	associated_with	phenylalanine hydroxylase,Phenylketonuria (PKU
R5	T8	T9	associated_with	PAH,Phenylketonuria (PKU
R6	T10	T11	associated_with	PAH,Phenylketonuria (PKU

PubmedHPO

Id	Subject	Object	Predicate	Lexical cue
T1	147-166	HP_0000007	denotes	autosomal recessive
T1	147-166	HP_0000007	denotes	autosomal recessive

PubCasesORDO

Id	Subject	Object	Predicate	Lexical cue
AB1	119-134	ORDO:716	denotes	Phenylketonuria
AB2	136-139	ORDO:716	denotes	PKU
TI1	102-117	ORDO:716	denotes	phenylketonuria
AB3	294-297	ORDO:716	denotes	PKU
AB4	888-891	ORDO:716	denotes	PKU

NCBIDiseaseCorpus

Id	Subject	Object	Predicate	Lexical cue
T1	102-117	SpecificDisease:D010661	denotes	phenylketonuria
T2	119-134	SpecificDisease:D010661	denotes	Phenylketonuria
T3	136-139	SpecificDisease:D010661	denotes	PKU
T4	147-174	DiseaseClass:D030342	denotes	autosomal recessive disease
T5	182-239	SpecificDisease:OMIM:261600	denotes	deficiency of a hepatic enzyme, phenylalanine hydroxylase
T6	294-297	SpecificDisease:D010661	denotes	PKU
T7	888-891	Modifier:D010661	denotes	PKU

mondo_disease

Id	Subject	Object	Predicate	Lexical cue	mondo_id
T1	91-117	Disease	denotes	variant of phenylketonuria	http://purl.obolibrary.org/obo/MONDO_0019258
T2	119-134	Disease	denotes	Phenylketonuria	http://purl.obolibrary.org/obo/MONDO_0009861
T3	136-139	Disease	denotes	PKU	http://purl.obolibrary.org/obo/MONDO_0009861
T4	147-174	Disease	denotes	autosomal recessive disease	http://purl.obolibrary.org/obo/MONDO_0006025
T5	241-244	Disease	denotes	PAH	http://purl.obolibrary.org/obo/MONDO_0015924
T6	262-265	Disease	denotes	PAH	http://purl.obolibrary.org/obo/MONDO_0015924
T7	294-297	Disease	denotes	PKU	http://purl.obolibrary.org/obo/MONDO_0009861
T8	444-447	Disease	denotes	PAH	http://purl.obolibrary.org/obo/MONDO_0015924
T9	888-891	Disease	denotes	PKU	http://purl.obolibrary.org/obo/MONDO_0009861

CL-cell

Id	Subject	Object	Predicate	Lexical cue	cl_id
T1	454-459	Cell	denotes	delta	http://purl.obolibrary.org/obo/CL:0004124