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PubMed:9705283 JSON TXT

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NCBI-Disease-Corpus-GPT5-withguidelines

Id	Subject	Object	Predicate	Lexical cue
T1	424-432	SpecificDisease	denotes	aniridia
T2	434-449	SpecificDisease	denotes	Peter's anomaly
T3	451-479	DiseaseClass	denotes	autosomal dominant keratitis
T4	485-510	SpecificDisease	denotes	familial foveal dysplasia
T5	592-600	SpecificDisease	denotes	aniridia
T6	757-765	SpecificDisease	denotes	Aniridia
T7	1524-1532	SpecificDisease	denotes	aniridia

NCBI-Disease-Corpus-GPT5-noguidelines

Id	Subject	Object	Predicate	Lexical cue
T1	424-432	SpecificDisease	denotes	aniridia
T2	434-449	SpecificDisease	denotes	Peter's anomaly
T3	451-479	SpecificDisease	denotes	autosomal dominant keratitis
T4	485-510	SpecificDisease	denotes	familial foveal dysplasia
T5	592-600	SpecificDisease	denotes	aniridia
T6	757-765	SpecificDisease	denotes	Aniridia
T7	1524-1532	SpecificDisease	denotes	aniridia

NCBI-Disease-Corpus-GPT5-guidelineprompt

Id	Subject	Object	Predicate	Lexical cue
T1	424-432	SpecificDisease	denotes	aniridia
T2	434-449	SpecificDisease	denotes	Peter's anomaly
T3	451-479	DiseaseClass	denotes	autosomal dominant keratitis
T4	485-510	SpecificDisease	denotes	familial foveal dysplasia
T5	592-600	SpecificDisease	denotes	aniridia
T6	757-765	SpecificDisease	denotes	Aniridia
T7	1524-1532	SpecificDisease	denotes	aniridia

NCBI-Disease-Corpus-Moderated1

Id	Subject	Object	Predicate	Lexical cue
T1	424-432	SpecificDisease	denotes	aniridia
T2	434-449	SpecificDisease	denotes	Peter's anomaly
T3	451-479	DiseaseClass	denotes	autosomal dominant keratitis
T4	485-510	SpecificDisease	denotes	familial foveal dysplasia
T5	592-600	SpecificDisease	denotes	aniridia
T6	757-765	SpecificDisease	denotes	Aniridia
T7	1524-1532	SpecificDisease	denotes	aniridia

sentences

Id	Subject	Object	Predicate	Lexical cue
T1	0-95	Sentence	denotes	Truncation mutations in the transactivation region of PAX6 result in dominant-negative mutants.
T2	96-247	Sentence	denotes	PAX6 is a transcription factor with two DNA-binding domains (paired box and homeobox) and a proline-serine-threonine (PST)-rich transactivation domain.
T3	248-337	Sentence	denotes	PAX6 regulates eye development in animals ranging from jellyfish to Drosophila to humans.
T4	338-511	Sentence	denotes	Heterozygous mutations in the human PAX6 gene result in various phenotypes, including aniridia, Peter's anomaly, autosomal dominant keratitis, and familial foveal dysplasia.
T5	512-645	Sentence	denotes	It is believed that the mutated allele of PAX6 produces an inactive protein and aniridia is caused due to genetic haploinsufficiency.
T6	646-880	Sentence	denotes	However, several truncation mutations have been found to occur in the C-terminal half of PAX6 in patients with Aniridia resulting in mutant proteins that retain the DNA-binding domains but have lost most of the transactivation domain.
T7	881-995	Sentence	denotes	It is not clear whether such mutants really behave as loss-of-function mutants as predicted by haploinsufficiency.
T8	996-1157	Sentence	denotes	Contrary to this theory, our data showed that these mutants are dominant-negative in transient transfection assays when they are coexpressed with wild-type PAX6.
T9	1158-1264	Sentence	denotes	We found that the dominant-negative effects result from the enhanced DNA binding ability of these mutants.
T10	1265-1447	Sentence	denotes	Kinetic studies of binding and dissociation revealed that various truncation mutants have 3-5-fold higher affinity to various DNA-binding sites when compared with the wild-type PAX6.
T11	1448-1533	Sentence	denotes	These results provide a new insight into the role of mutant PAX6 in causing aniridia.

Glycosmos6-MAT

Id	Subject	Object	Predicate	Lexical cue
T1	263-266	http://purl.obolibrary.org/obo/MAT_0000140	denotes	eye

NCBIDiseaseCorpus

Id	Subject	Object	Predicate	Lexical cue
T1	424-432	SpecificDisease:D015783	denotes	aniridia
T2	434-449	SpecificDisease:C537884	denotes	Peter's anomaly
T3	451-479	SpecificDisease:C537022	denotes	autosomal dominant keratitis
T4	485-510	SpecificDisease:OMIM:136520	denotes	familial foveal dysplasia
T5	592-600	SpecificDisease:D015783	denotes	aniridia
T6	757-765	SpecificDisease:D015783	denotes	Aniridia
T7	1524-1532	SpecificDisease:D015783	denotes	aniridia

mondo_disease

Id	Subject	Object	Predicate	Lexical cue	mondo_id
T1	424-432	Disease	denotes	aniridia	http://purl.obolibrary.org/obo/MONDO_0019172
T2	434-449	Disease	denotes	Peter's anomaly	http://purl.obolibrary.org/obo/MONDO_0011414
T3	451-479	Disease	denotes	autosomal dominant keratitis	http://purl.obolibrary.org/obo/MONDO_0007848
T4	592-600	Disease	denotes	aniridia	http://purl.obolibrary.org/obo/MONDO_0019172
T5	757-765	Disease	denotes	Aniridia	http://purl.obolibrary.org/obo/MONDO_0019172
T6	1524-1532	Disease	denotes	aniridia	http://purl.obolibrary.org/obo/MONDO_0019172

NCBI-Disease-Test

Id	Subject	Object	Predicate	Lexical cue	database_id
T164	424-432	SpecificDisease	denotes	aniridia	D015783
T165	434-449	SpecificDisease	denotes	Peter's anomaly	C537884
T166	451-479	SpecificDisease	denotes	autosomal dominant keratitis	C537022
T167	485-510	SpecificDisease	denotes	familial foveal dysplasia	OMIM:136520
T168	592-600	SpecificDisease	denotes	aniridia	D015783
T169	757-765	SpecificDisease	denotes	Aniridia	D015783
T170	1524-1532	SpecificDisease	denotes	aniridia	D015783

NCBI-Disease-Test-Assistant-Knowledge

Id	Subject	Object	Predicate	Lexical cue
T1	424-432	SpecificDisease	denotes	aniridia
T2	434-449	SpecificDisease	denotes	Peter's anomaly
T3	451-479	CompositeMention	denotes	autosomal dominant keratitis
T4	485-510	CompositeMention	denotes	familial foveal dysplasia
T5	592-600	SpecificDisease	denotes	aniridia
T6	757-765	SpecificDisease	denotes	Aniridia
T7	1524-1532	SpecificDisease	denotes	aniridia

NCBI-Disease-Test-4o-NoGuidelineInPrompt

Id	Subject	Object	Predicate	Lexical cue
T1	424-432	SpecificDisease	denotes	aniridia
T2	434-449	SpecificDisease	denotes	Peter's anomaly
T3	451-479	CompositeMention	denotes	autosomal dominant keratitis
T4	485-510	CompositeMention	denotes	familial foveal dysplasia
T5	592-600	SpecificDisease	denotes	aniridia
T6	757-765	SpecificDisease	denotes	Aniridia
T7	1524-1532	SpecificDisease	denotes	aniridia

NCBI-Disease-Corpus-o3-2

Id	Subject	Object	Predicate	Lexical cue
T1	424-432	SpecificDisease	denotes	aniridia
T2	434-449	SpecificDisease	denotes	Peter's anomaly
T3	451-479	SpecificDisease	denotes	autosomal dominant keratitis
T4	485-510	SpecificDisease	denotes	familial foveal dysplasia
T5	592-600	SpecificDisease	denotes	aniridia
T6	757-765	SpecificDisease	denotes	Aniridia
T7	1524-1532	SpecificDisease	denotes	aniridia

NCBI-Disease-Corpus-high-o3-1

Id	Subject	Object	Predicate	Lexical cue
T1	424-432	SpecificDisease	denotes	aniridia
T2	434-449	SpecificDisease	denotes	Peter's anomaly
T3	451-479	SpecificDisease	denotes	autosomal dominant keratitis
T4	485-510	SpecificDisease	denotes	familial foveal dysplasia
T5	592-600	SpecificDisease	denotes	aniridia
T6	757-765	SpecificDisease	denotes	Aniridia
T7	1524-1532	SpecificDisease	denotes	aniridia

NCBI-Disease-Corpus-high-o3-2

Id	Subject	Object	Predicate	Lexical cue
T1	424-432	SpecificDisease	denotes	aniridia
T2	434-449	SpecificDisease	denotes	Peter's anomaly
T3	451-479	SpecificDisease	denotes	autosomal dominant keratitis
T4	485-510	SpecificDisease	denotes	familial foveal dysplasia
T5	592-600	SpecificDisease	denotes	aniridia
T6	757-765	SpecificDisease	denotes	Aniridia
T7	1524-1532	SpecificDisease	denotes	aniridia

NCBI-Disease-Test-4o-GuidelineInPrompt

Id	Subject	Object	Predicate	Lexical cue
T1	424-432	SpecificDisease	denotes	aniridia
T2	434-449	SpecificDisease	denotes	Peter's anomaly
T3	451-479	SpecificDisease	denotes	autosomal dominant keratitis
T4	485-510	SpecificDisease	denotes	familial foveal dysplasia
T5	592-600	SpecificDisease	denotes	aniridia
T6	757-765	SpecificDisease	denotes	Aniridia
T7	1524-1532	SpecificDisease	denotes	aniridia

NCBI-Disease-Corpus-UpdatedGuideline

Id	Subject	Object	Predicate	Lexical cue
T1	424-432	SpecificDisease	denotes	aniridia
T2	434-449	SpecificDisease	denotes	Peter's anomaly
T3	451-479	DiseaseClass	denotes	autosomal dominant keratitis
T4	485-510	SpecificDisease	denotes	familial foveal dysplasia
T5	592-600	SpecificDisease	denotes	aniridia
T6	757-765	SpecificDisease	denotes	Aniridia
T7	1524-1532	SpecificDisease	denotes	aniridia

NCBI-Disease-Corpus-humanintheloop

Id	Subject	Object	Predicate	Lexical cue
T1	424-432	SpecificDisease	denotes	aniridia
T2	434-449	SpecificDisease	denotes	Peter's anomaly
T3	451-479	SpecificDisease	denotes	autosomal dominant keratitis
T4	485-510	SpecificDisease	denotes	familial foveal dysplasia
T5	592-600	SpecificDisease	denotes	aniridia
T6	757-765	SpecificDisease	denotes	Aniridia
T7	1524-1532	SpecificDisease	denotes	aniridia

NCBI-Disease-Corpus-rezarta1

Id	Subject	Object	Predicate	Lexical cue
T1	424-432	SpecificDisease	denotes	aniridia
T2	434-449	SpecificDisease	denotes	Peter's anomaly
T3	451-479	DiseaseClass	denotes	autosomal dominant keratitis
T4	485-510	SpecificDisease	denotes	familial foveal dysplasia
T5	592-600	SpecificDisease	denotes	aniridia
T6	757-765	SpecificDisease	denotes	Aniridia
T7	1524-1532	SpecificDisease	denotes	aniridia

NCBI-Disease-Corpus-All

Id	Subject	Object	Predicate	Lexical cue	database_id
T164	424-432	SpecificDisease	denotes	aniridia	D015783
T165	434-449	SpecificDisease	denotes	Peter's anomaly	C537884
T166	451-479	SpecificDisease	denotes	autosomal dominant keratitis	C537022
T167	485-510	SpecificDisease	denotes	familial foveal dysplasia	OMIM:136520
T168	592-600	SpecificDisease	denotes	aniridia	D015783
T169	757-765	SpecificDisease	denotes	Aniridia	D015783
T170	1524-1532	SpecificDisease	denotes	aniridia	D015783

NCBI-Disease-Corpus-2stage-All

Id	Subject	Object	Predicate	Lexical cue
T1	424-432	SpecificDisease	denotes	aniridia
T2	434-449	SpecificDisease	denotes	Peter's anomaly
T3	451-479	SpecificDisease	denotes	autosomal dominant keratitis
T4	485-510	SpecificDisease	denotes	familial foveal dysplasia
T5	592-600	SpecificDisease	denotes	aniridia
T6	757-765	SpecificDisease	denotes	Aniridia
T7	1524-1532	SpecificDisease	denotes	aniridia

NCBI-Disease-Corpus-rezarta-All

Id	Subject	Object	Predicate	Lexical cue
T1	424-432	SpecificDisease	denotes	aniridia
T2	434-449	SpecificDisease	denotes	Peter's anomaly
T3	451-479	DiseaseClass	denotes	autosomal dominant keratitis
T4	485-510	DiseaseClass	denotes	familial foveal dysplasia
T5	592-600	SpecificDisease	denotes	aniridia
T6	757-765	SpecificDisease	denotes	Aniridia
T7	1524-1532	SpecificDisease	denotes	aniridia

NCBI-Disease-Corpus-4oGuideline-All

Id	Subject	Object	Predicate	Lexical cue
T1	424-432	SpecificDisease	denotes	aniridia
T2	434-449	SpecificDisease	denotes	Peter's anomaly
T3	451-479	SpecificDisease	denotes	autosomal dominant keratitis
T4	485-510	SpecificDisease	denotes	familial foveal dysplasia
T5	592-600	SpecificDisease	denotes	aniridia
T6	757-765	SpecificDisease	denotes	Aniridia
T7	1524-1532	SpecificDisease	denotes	aniridia

NCBI-Disease-Corpus-Simple-All

Id	Subject	Object	Predicate	Lexical cue
T1	424-432	SpecificDisease	denotes	aniridia
T2	434-449	SpecificDisease	denotes	Peter's anomaly
T3	592-600	SpecificDisease	denotes	aniridia
T4	757-765	SpecificDisease	denotes	Aniridia
T5	1524-1532	SpecificDisease	denotes	aniridia

NCBITAXON

Id	Subject	Object	Predicate	Lexical cue	db_id
T1	316-326	OrganismTaxon	denotes	Drosophila	2081351\|32281\|7215
T4	368-373	OrganismTaxon	denotes	human	9606

Anatomy-UBERON

Id	Subject	Object	Predicate	Lexical cue	uberon_id
T1	263-266	Body_part	denotes	eye	http://purl.obolibrary.org/obo/UBERON_0000019\|http://purl.obolibrary.org/obo/UBERON_0000970\|http://purl.obolibrary.org/obo/UBERON_0010230

Anatomy-MAT

Id	Subject	Object	Predicate	Lexical cue	mat_id
T1	263-266	Body_part	denotes	eye	http://purl.obolibrary.org/obo/MAT_0000140

HP-phenotype

Id	Subject	Object	Predicate	Lexical cue	hp_id
T1	424-432	Phenotype	denotes	aniridia	HP:0000526
T2	434-449	Phenotype	denotes	Peter's anomaly	HP:0000659
T3	470-479	Phenotype	denotes	keratitis	HP:0000491
T4	592-600	Phenotype	denotes	aniridia	HP:0000526
T5	757-765	Phenotype	denotes	Aniridia	HP:0000526
T6	1524-1532	Phenotype	denotes	aniridia	HP:0000526

123456

Id	Subject	Object	Predicate	Lexical cue
T1	424-432	SpecificDisease	denotes	aniridia
T2	434-449	SpecificDisease	denotes	Peter's anomaly
T3	451-479	SpecificDisease	denotes	autosomal dominant keratitis
T4	485-510	SpecificDisease	denotes	familial foveal dysplasia
T5	592-600	SpecificDisease	denotes	aniridia
T6	757-765	SpecificDisease	denotes	Aniridia
T7	1524-1532	SpecificDisease	denotes	aniridia

12345

Id	Subject	Object	Predicate	Lexical cue
T1	424-432	SpecificDisease	denotes	aniridia
T2	434-449	SpecificDisease	denotes	Peter's anomaly
T3	451-510	CompositeMention	denotes	autosomal dominant keratitis, and familial foveal dysplasia
T4	592-600	SpecificDisease	denotes	aniridia
T5	757-765	SpecificDisease	denotes	Aniridia
T6	1524-1532	SpecificDisease	denotes	aniridia