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PubMed:10441571 JSONTXT

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PMID_GLOBAL

Id Subject Object Predicate Lexical cue mondo_id
T1 223-231 DiseaseOrPhenotypicFeature denotes aniridia 0019172
T2 233-247 DiseaseOrPhenotypicFeature denotes Peters anomaly 0011414
T3 249-266 DiseaseOrPhenotypicFeature denotes corneal dystrophy 0018102
T4 279-287 DiseaseOrPhenotypicFeature denotes cataract 0005129
T5 293-310 DiseaseOrPhenotypicFeature denotes foveal hypoplasia 0044203
T6 561-564 DiseaseOrPhenotypicFeature denotes CTS 0007275|0020730
T8 896-899 DiseaseOrPhenotypicFeature denotes CTS 0007275|0020730
T10 1050-1064 DiseaseOrPhenotypicFeature denotes Peters anomaly 0011414
T11 1077-1085 DiseaseOrPhenotypicFeature denotes cataract 0005129
T12 1113-1130 DiseaseOrPhenotypicFeature denotes foveal hypoplasia 0044203
T13 1482-1485 DiseaseOrPhenotypicFeature denotes CTS 0007275|0020730

sentences

Id Subject Object Predicate Lexical cue
TextSentencer_T1 0-85 Sentence denotes Missense mutation in the alternative splice region of the PAX6 gene in eye anomalies.
TextSentencer_T2 86-311 Sentence denotes The PAX6 gene is involved in ocular morphogenesis, and PAX6 mutations have been detected in various types of ocular anomalies, including aniridia, Peters anomaly, corneal dystrophy, congenital cataract, and foveal hypoplasia.
TextSentencer_T3 312-429 Sentence denotes The gene encodes a transcriptional regulator that recognizes target genes through its paired-type DNA-binding domain.
TextSentencer_T4 430-613 Sentence denotes The paired domain is composed of two distinct DNA-binding subdomains, the N-terminal subdomain (NTS) and the C-terminal subdomain (CTS), which bind respective consensus DNA sequences.
TextSentencer_T5 614-729 Sentence denotes The human PAX6 gene produces two alternative splice isoforms that have the distinct structure of the paired domain.
TextSentencer_T6 730-900 Sentence denotes The insertion, into the NTS, of 14 additional amino acids encoded by exon 5a abolishes the DNA-binding activity of the NTS and unmasks the DNA-binding ability of the CTS.
TextSentencer_T7 901-985 Sentence denotes Thus, exon 5a appears to function as a molecular switch that specifies target genes.
TextSentencer_T8 986-1219 Sentence denotes We ascertained a novel missense mutation in four pedigrees with Peters anomaly, congenital cataract, Axenfeldt anomaly, and/or foveal hypoplasia, which, to our knowledge, is the first mutation identified in the splice-variant region.
TextSentencer_T9 1220-1380 Sentence denotes A T-->A transition at the 20th nucleotide position of exon 5a results in a Val-->Asp (GTC-->GAC) substitution at the 7th codon of the alternative splice region.
TextSentencer_T10 1381-1526 Sentence denotes Functional analyses demonstrated that the V54D mutation slightly increased NTS binding and decreased CTS transactivation activity to almost half.
T1 0-85 Sentence denotes Missense mutation in the alternative splice region of the PAX6 gene in eye anomalies.
T2 86-311 Sentence denotes The PAX6 gene is involved in ocular morphogenesis, and PAX6 mutations have been detected in various types of ocular anomalies, including aniridia, Peters anomaly, corneal dystrophy, congenital cataract, and foveal hypoplasia.
T3 312-429 Sentence denotes The gene encodes a transcriptional regulator that recognizes target genes through its paired-type DNA-binding domain.
T4 430-613 Sentence denotes The paired domain is composed of two distinct DNA-binding subdomains, the N-terminal subdomain (NTS) and the C-terminal subdomain (CTS), which bind respective consensus DNA sequences.
T5 614-729 Sentence denotes The human PAX6 gene produces two alternative splice isoforms that have the distinct structure of the paired domain.
T6 730-900 Sentence denotes The insertion, into the NTS, of 14 additional amino acids encoded by exon 5a abolishes the DNA-binding activity of the NTS and unmasks the DNA-binding ability of the CTS.
T7 901-985 Sentence denotes Thus, exon 5a appears to function as a molecular switch that specifies target genes.
T8 986-1219 Sentence denotes We ascertained a novel missense mutation in four pedigrees with Peters anomaly, congenital cataract, Axenfeldt anomaly, and/or foveal hypoplasia, which, to our knowledge, is the first mutation identified in the splice-variant region.
T9 1220-1380 Sentence denotes A T-->A transition at the 20th nucleotide position of exon 5a results in a Val-->Asp (GTC-->GAC) substitution at the 7th codon of the alternative splice region.
T10 1381-1526 Sentence denotes Functional analyses demonstrated that the V54D mutation slightly increased NTS binding and decreased CTS transactivation activity to almost half.

PubmedHPO

Id Subject Object Predicate Lexical cue
T1 223-231 HP_0000526 denotes aniridia
T2 233-247 HP_0000659 denotes Peters anomaly
T3 249-266 HP_0001131 denotes corneal dystrophy
T4 268-287 HP_0000519 denotes congenital cataract
T5 279-287 HP_0000518 denotes cataract
T6 293-310 HP_0007750 denotes foveal hypoplasia
T7 1050-1064 HP_0000659 denotes Peters anomaly
T8 1066-1085 HP_0000519 denotes congenital cataract
T9 1077-1085 HP_0000518 denotes cataract
T10 1113-1130 HP_0007750 denotes foveal hypoplasia

DisGeNET5_gene_disease

Id Subject Object Predicate Lexical cue
10441571-1#4#8#gene5080 90-94 gene5080 denotes PAX6
10441571-1#55#59#gene5080 141-145 gene5080 denotes PAX6
10441571-1#137#145#diseaseC0003076 223-231 diseaseC0003076 denotes aniridia
4#8#gene5080137#145#diseaseC0003076 10441571-1#4#8#gene5080 10441571-1#137#145#diseaseC0003076 associated_with PAX6,aniridia
55#59#gene5080137#145#diseaseC0003076 10441571-1#55#59#gene5080 10441571-1#137#145#diseaseC0003076 associated_with PAX6,aniridia

PubCasesHPO

Id Subject Object Predicate Lexical cue
AB1 223-231 HP:0000526 denotes aniridia
AB2 233-247 HP:0000659 denotes Peters anomaly
AB3 249-266 HP:0001131 denotes corneal dystrophy
AB4 268-287 HP:0000519 denotes congenital cataract
AB5 1050-1064 HP:0000659 denotes Peters anomaly
AB6 1066-1085 HP:0000519 denotes congenital cataract

performance-test

Id Subject Object Predicate Lexical cue
PD-UBERON-AE-B_T1 71-74 http://purl.obolibrary.org/obo/UBERON_0000970 denotes eye

PubCasesORDO

Id Subject Object Predicate Lexical cue
AB1 233-247 ORDO:708 denotes Peters anomaly
AB2 1050-1064 ORDO:708 denotes Peters anomaly
AB3 1301-1304 ORDO:63442 denotes Asp

UBERON-AE

Id Subject Object Predicate Lexical cue
PD-UBERON-AE-B_T1 71-74 http://purl.obolibrary.org/obo/UBERON_0000970 denotes eye

NCBIDiseaseCorpus

Id Subject Object Predicate Lexical cue
T1 71-84 DiseaseClass:D005124 denotes eye anomalies
T2 195-211 DiseaseClass:D005124 denotes ocular anomalies
T3 223-231 SpecificDisease:D015783 denotes aniridia
T4 233-247 SpecificDisease:C537884 denotes Peters anomaly
T5 249-266 SpecificDisease:D003317 denotes corneal dystrophy
T6 268-287 SpecificDisease:D002386 denotes congenital cataract
T7 293-310 SpecificDisease:OMIM:136520 denotes foveal hypoplasia
T8 1050-1064 SpecificDisease:C537884 denotes Peters anomaly
T9 1066-1085 SpecificDisease:D002386 denotes congenital cataract
T10 1087-1104 SpecificDisease:C535679 denotes Axenfeldt anomaly
T11 1113-1130 SpecificDisease:OMIM:136520 denotes foveal hypoplasia

NCBI-Disease-Train

Id Subject Object Predicate Lexical cue database_id
T5000 71-84 DiseaseClass denotes eye anomalies D005124
T5001 195-211 DiseaseClass denotes ocular anomalies D005124
T5002 223-231 SpecificDisease denotes aniridia D015783
T5003 233-247 SpecificDisease denotes Peters anomaly C537884
T5004 249-266 SpecificDisease denotes corneal dystrophy D003317
T5005 268-287 SpecificDisease denotes congenital cataract D002386
T5006 293-310 SpecificDisease denotes foveal hypoplasia OMIM:136520
T5007 1050-1064 SpecificDisease denotes Peters anomaly C537884
T5008 1066-1085 SpecificDisease denotes congenital cataract D002386
T5009 1087-1104 SpecificDisease denotes Axenfeldt anomaly C535679
T5010 1113-1130 SpecificDisease denotes foveal hypoplasia OMIM:136520

NCBI-Disease-Corpus-All

Id Subject Object Predicate Lexical cue database_id
T5000 71-84 DiseaseClass denotes eye anomalies D005124
T5001 195-211 DiseaseClass denotes ocular anomalies D005124
T5002 223-231 SpecificDisease denotes aniridia D015783
T5003 233-247 SpecificDisease denotes Peters anomaly C537884
T5004 249-266 SpecificDisease denotes corneal dystrophy D003317
T5005 268-287 SpecificDisease denotes congenital cataract D002386
T5006 293-310 SpecificDisease denotes foveal hypoplasia OMIM:136520
T5007 1050-1064 SpecificDisease denotes Peters anomaly C537884
T5008 1066-1085 SpecificDisease denotes congenital cataract D002386
T5009 1087-1104 SpecificDisease denotes Axenfeldt anomaly C535679
T5010 1113-1130 SpecificDisease denotes foveal hypoplasia OMIM:136520

NCBI-Disease-Corpus-2stage-All

Id Subject Object Predicate Lexical cue
T1 223-231 SpecificDisease denotes aniridia
T2 233-247 SpecificDisease denotes Peters anomaly
T3 249-266 SpecificDisease denotes corneal dystrophy
T4 268-287 SpecificDisease denotes congenital cataract
T5 293-310 SpecificDisease denotes foveal hypoplasia
T6 1050-1064 SpecificDisease denotes Peters anomaly
T7 1066-1085 SpecificDisease denotes congenital cataract
T8 1087-1104 SpecificDisease denotes Axenfeldt anomaly
T9 1113-1130 CompositeMention denotes foveal hypoplasia

NCBI-Disease-Corpus-rezarta-All

Id Subject Object Predicate Lexical cue
T1 223-231 SpecificDisease denotes aniridia
T2 233-247 SpecificDisease denotes Peters anomaly
T3 249-266 SpecificDisease denotes corneal dystrophy
T4 268-287 SpecificDisease denotes congenital cataract
T5 293-310 SpecificDisease denotes foveal hypoplasia
T6 1050-1064 SpecificDisease denotes Peters anomaly
T7 1066-1085 SpecificDisease denotes congenital cataract
T8 1087-1104 SpecificDisease denotes Axenfeldt anomaly
T9 1113-1130 SpecificDisease denotes foveal hypoplasia

NCBI-Disease-Corpus-4oGuideline-All

Id Subject Object Predicate Lexical cue
T1 71-84 Modifier denotes eye anomalies
T2 223-231 SpecificDisease denotes aniridia
T3 233-247 SpecificDisease denotes Peters anomaly
T4 249-266 SpecificDisease denotes corneal dystrophy
T5 268-287 SpecificDisease denotes congenital cataract
T6 293-310 SpecificDisease denotes foveal hypoplasia
T7 1050-1064 SpecificDisease denotes Peters anomaly
T8 1066-1085 SpecificDisease denotes congenital cataract
T9 1087-1104 SpecificDisease denotes Axenfeldt anomaly
T10 1113-1130 SpecificDisease denotes foveal hypoplasia

NCBI-Disease-Corpus-Simple-All

Id Subject Object Predicate Lexical cue
T1 71-84 DiseaseClass denotes eye anomalies
T2 195-211 DiseaseClass denotes ocular anomalies
T3 223-231 SpecificDisease denotes aniridia
T4 233-247 SpecificDisease denotes Peters anomaly
T5 249-266 SpecificDisease denotes corneal dystrophy
T6 268-287 SpecificDisease denotes congenital cataract
T7 293-310 SpecificDisease denotes foveal hypoplasia
T8 1050-1064 SpecificDisease denotes Peters anomaly
T9 1066-1085 SpecificDisease denotes congenital cataract
T10 1087-1104 SpecificDisease denotes Axenfeldt anomaly
T11 1113-1130 SpecificDisease denotes foveal hypoplasia