PubMed:9729124 JSONTXT

{"project":"NCBI-Disease-Corpus-GPT5-withguidelines","denotations":[{"id":"T1","span":{"begin":31,"end":59},"obj":"Modifier"},{"id":"T2","span":{"begin":61,"end":64},"obj":"Modifier"},{"id":"T3","span":{"begin":72,"end":100},"obj":"SpecificDisease"},{"id":"T4","span":{"begin":102,"end":105},"obj":"SpecificDisease"},{"id":"T5","span":{"begin":249,"end":252},"obj":"Modifier"},{"id":"T6","span":{"begin":643,"end":646},"obj":"Modifier"},{"id":"T7","span":{"begin":901,"end":904},"obj":"Modifier"},{"id":"T8","span":{"begin":972,"end":988},"obj":"Modifier"}],"text":"Genomic structure of the human congenital chloride diarrhea (CLD) gene.\nCongenital chloride diarrhea (CLD) is caused by mutations in a gene which encodes an intestinal anion transporter. We report here the complete genomic organization of the human CLD gene which spans approximately 39kb, and comprises 21 exons. All exon/intron boundaries conform to the GT/AG rule. An analysis of the putative promoter region sequence shows a putative TATA box and predicts multiple transcription factor binding sites. The genomic structure was determined using DNA from several sources including multiple large-insert libaries and genomic DNA from Finnish CLD patients and controls. Exon-specific primers developed in this study will facilitate mutation screening studies of patients with the disease. Genomic sequencing of a BAC clone H_RG364P16 revealed the presence of another, highly homologous gene 3' of the CLD gene, with a similar genomic structure, recently identified as the Pendred syndrome gene (PDS)."}

{"project":"NCBI-Disease-Corpus-GPT5-noguidelines","denotations":[{"id":"T1","span":{"begin":31,"end":65},"obj":"SpecificDisease"},{"id":"T2","span":{"begin":72,"end":106},"obj":"SpecificDisease"},{"id":"T3","span":{"begin":249,"end":252},"obj":"SpecificDisease"},{"id":"T4","span":{"begin":643,"end":646},"obj":"SpecificDisease"},{"id":"T5","span":{"begin":776,"end":787},"obj":"SpecificDisease"},{"id":"T6","span":{"begin":901,"end":904},"obj":"SpecificDisease"},{"id":"T7","span":{"begin":972,"end":988},"obj":"SpecificDisease"}],"text":"Genomic structure of the human congenital chloride diarrhea (CLD) gene.\nCongenital chloride diarrhea (CLD) is caused by mutations in a gene which encodes an intestinal anion transporter. We report here the complete genomic organization of the human CLD gene which spans approximately 39kb, and comprises 21 exons. All exon/intron boundaries conform to the GT/AG rule. An analysis of the putative promoter region sequence shows a putative TATA box and predicts multiple transcription factor binding sites. The genomic structure was determined using DNA from several sources including multiple large-insert libaries and genomic DNA from Finnish CLD patients and controls. Exon-specific primers developed in this study will facilitate mutation screening studies of patients with the disease. Genomic sequencing of a BAC clone H_RG364P16 revealed the presence of another, highly homologous gene 3' of the CLD gene, with a similar genomic structure, recently identified as the Pendred syndrome gene (PDS)."}

{"project":"NCBI-Disease-Corpus-GPT5-guidelineprompt","denotations":[{"id":"T1","span":{"begin":31,"end":59},"obj":"Modifier"},{"id":"T2","span":{"begin":61,"end":64},"obj":"Modifier"},{"id":"T3","span":{"begin":72,"end":100},"obj":"SpecificDisease"},{"id":"T4","span":{"begin":102,"end":105},"obj":"SpecificDisease"},{"id":"T5","span":{"begin":249,"end":252},"obj":"Modifier"},{"id":"T6","span":{"begin":643,"end":646},"obj":"Modifier"},{"id":"T7","span":{"begin":901,"end":904},"obj":"Modifier"},{"id":"T8","span":{"begin":972,"end":988},"obj":"Modifier"}],"text":"Genomic structure of the human congenital chloride diarrhea (CLD) gene.\nCongenital chloride diarrhea (CLD) is caused by mutations in a gene which encodes an intestinal anion transporter. We report here the complete genomic organization of the human CLD gene which spans approximately 39kb, and comprises 21 exons. All exon/intron boundaries conform to the GT/AG rule. An analysis of the putative promoter region sequence shows a putative TATA box and predicts multiple transcription factor binding sites. The genomic structure was determined using DNA from several sources including multiple large-insert libaries and genomic DNA from Finnish CLD patients and controls. Exon-specific primers developed in this study will facilitate mutation screening studies of patients with the disease. Genomic sequencing of a BAC clone H_RG364P16 revealed the presence of another, highly homologous gene 3' of the CLD gene, with a similar genomic structure, recently identified as the Pendred syndrome gene (PDS)."}

{"project":"NCBI-Disease-Corpus-Moderated1","denotations":[{"id":"T1","span":{"begin":31,"end":59},"obj":"Modifier"},{"id":"T2","span":{"begin":61,"end":64},"obj":"Modifier"},{"id":"T3","span":{"begin":72,"end":100},"obj":"SpecificDisease"},{"id":"T4","span":{"begin":249,"end":252},"obj":"Modifier"},{"id":"T5","span":{"begin":643,"end":646},"obj":"Modifier"},{"id":"T6","span":{"begin":901,"end":904},"obj":"Modifier"},{"id":"T7","span":{"begin":972,"end":988},"obj":"Modifier"}],"text":"Genomic structure of the human congenital chloride diarrhea (CLD) gene.\nCongenital chloride diarrhea (CLD) is caused by mutations in a gene which encodes an intestinal anion transporter. We report here the complete genomic organization of the human CLD gene which spans approximately 39kb, and comprises 21 exons. All exon/intron boundaries conform to the GT/AG rule. An analysis of the putative promoter region sequence shows a putative TATA box and predicts multiple transcription factor binding sites. The genomic structure was determined using DNA from several sources including multiple large-insert libaries and genomic DNA from Finnish CLD patients and controls. Exon-specific primers developed in this study will facilitate mutation screening studies of patients with the disease. Genomic sequencing of a BAC clone H_RG364P16 revealed the presence of another, highly homologous gene 3' of the CLD gene, with a similar genomic structure, recently identified as the Pendred syndrome gene (PDS)."}

{"project":"DisGeNET","denotations":[{"id":"T0","span":{"begin":901,"end":904},"obj":"gene:1811"},{"id":"T1","span":{"begin":972,"end":988},"obj":"disease:C0271829"}],"relations":[{"id":"R1","pred":"associated_with","subj":"T0","obj":"T1"}],"namespaces":[{"prefix":"gene","uri":"http://www.ncbi.nlm.nih.gov/gene/"},{"prefix":"disease","uri":"http://purl.bioontology.org/ontology/MEDLINEPLUS/"}],"text":"Genomic structure of the human congenital chloride diarrhea (CLD) gene.\nCongenital chloride diarrhea (CLD) is caused by mutations in a gene which encodes an intestinal anion transporter. We report here the complete genomic organization of the human CLD gene which spans approximately 39kb, and comprises 21 exons. All exon/intron boundaries conform to the GT/AG rule. An analysis of the putative promoter region sequence shows a putative TATA box and predicts multiple transcription factor binding sites. The genomic structure was determined using DNA from several sources including multiple large-insert libaries and genomic DNA from Finnish CLD patients and controls. Exon-specific primers developed in this study will facilitate mutation screening studies of patients with the disease. Genomic sequencing of a BAC clone H_RG364P16 revealed the presence of another, highly homologous gene 3' of the CLD gene, with a similar genomic structure, recently identified as the Pendred syndrome gene (PDS)."}

{"project":"NCBIDiseaseCorpus","denotations":[{"id":"T1","span":{"begin":31,"end":59},"obj":"Modifier:C536210"},{"id":"T2","span":{"begin":61,"end":64},"obj":"Modifier:C536210"},{"id":"T3","span":{"begin":72,"end":100},"obj":"SpecificDisease:C536210"},{"id":"T4","span":{"begin":102,"end":105},"obj":"SpecificDisease:C536210"},{"id":"T5","span":{"begin":249,"end":252},"obj":"Modifier:C536210"},{"id":"T6","span":{"begin":643,"end":646},"obj":"Modifier:C536210"},{"id":"T7","span":{"begin":901,"end":904},"obj":"Modifier:C536210"},{"id":"T8","span":{"begin":972,"end":988},"obj":"Modifier:C536648"},{"id":"T9","span":{"begin":995,"end":998},"obj":"SpecificDisease:C536648"}],"text":"Genomic structure of the human congenital chloride diarrhea (CLD) gene.\nCongenital chloride diarrhea (CLD) is caused by mutations in a gene which encodes an intestinal anion transporter. We report here the complete genomic organization of the human CLD gene which spans approximately 39kb, and comprises 21 exons. All exon/intron boundaries conform to the GT/AG rule. An analysis of the putative promoter region sequence shows a putative TATA box and predicts multiple transcription factor binding sites. The genomic structure was determined using DNA from several sources including multiple large-insert libaries and genomic DNA from Finnish CLD patients and controls. Exon-specific primers developed in this study will facilitate mutation screening studies of patients with the disease. Genomic sequencing of a BAC clone H_RG364P16 revealed the presence of another, highly homologous gene 3' of the CLD gene, with a similar genomic structure, recently identified as the Pendred syndrome gene (PDS)."}

{"project":"NCBI-Disease-Test","denotations":[{"id":"T405","span":{"begin":31,"end":59},"obj":"Modifier"},{"id":"T406","span":{"begin":61,"end":64},"obj":"Modifier"},{"id":"T407","span":{"begin":72,"end":100},"obj":"SpecificDisease"},{"id":"T408","span":{"begin":102,"end":105},"obj":"SpecificDisease"},{"id":"T409","span":{"begin":249,"end":252},"obj":"Modifier"},{"id":"T410","span":{"begin":643,"end":646},"obj":"Modifier"},{"id":"T411","span":{"begin":901,"end":904},"obj":"Modifier"},{"id":"T412","span":{"begin":972,"end":988},"obj":"Modifier"},{"id":"T413","span":{"begin":995,"end":998},"obj":"SpecificDisease"}],"attributes":[{"id":"A405","pred":"database_id","subj":"T405","obj":"C536210"},{"id":"A406","pred":"database_id","subj":"T406","obj":"C536210"},{"id":"A407","pred":"database_id","subj":"T407","obj":"C536210"},{"id":"A408","pred":"database_id","subj":"T408","obj":"C536210"},{"id":"A409","pred":"database_id","subj":"T409","obj":"C536210"},{"id":"A410","pred":"database_id","subj":"T410","obj":"C536210"},{"id":"A411","pred":"database_id","subj":"T411","obj":"C536210"},{"id":"A412","pred":"database_id","subj":"T412","obj":"C536648"},{"id":"A413","pred":"database_id","subj":"T413","obj":"C536648"}],"text":"Genomic structure of the human congenital chloride diarrhea (CLD) gene.\nCongenital chloride diarrhea (CLD) is caused by mutations in a gene which encodes an intestinal anion transporter. We report here the complete genomic organization of the human CLD gene which spans approximately 39kb, and comprises 21 exons. All exon/intron boundaries conform to the GT/AG rule. An analysis of the putative promoter region sequence shows a putative TATA box and predicts multiple transcription factor binding sites. The genomic structure was determined using DNA from several sources including multiple large-insert libaries and genomic DNA from Finnish CLD patients and controls. Exon-specific primers developed in this study will facilitate mutation screening studies of patients with the disease. Genomic sequencing of a BAC clone H_RG364P16 revealed the presence of another, highly homologous gene 3' of the CLD gene, with a similar genomic structure, recently identified as the Pendred syndrome gene (PDS)."}

{"project":"NCBI-Disease-Test-Assistant-Knowledge","denotations":[{"id":"T1","span":{"begin":31,"end":59},"obj":"SpecificDisease"},{"id":"T2","span":{"begin":72,"end":100},"obj":"SpecificDisease"},{"id":"T3","span":{"begin":643,"end":646},"obj":"SpecificDisease"},{"id":"T4","span":{"begin":972,"end":988},"obj":"SpecificDisease"}],"text":"Genomic structure of the human congenital chloride diarrhea (CLD) gene.\nCongenital chloride diarrhea (CLD) is caused by mutations in a gene which encodes an intestinal anion transporter. We report here the complete genomic organization of the human CLD gene which spans approximately 39kb, and comprises 21 exons. All exon/intron boundaries conform to the GT/AG rule. An analysis of the putative promoter region sequence shows a putative TATA box and predicts multiple transcription factor binding sites. The genomic structure was determined using DNA from several sources including multiple large-insert libaries and genomic DNA from Finnish CLD patients and controls. Exon-specific primers developed in this study will facilitate mutation screening studies of patients with the disease. Genomic sequencing of a BAC clone H_RG364P16 revealed the presence of another, highly homologous gene 3' of the CLD gene, with a similar genomic structure, recently identified as the Pendred syndrome gene (PDS)."}

{"project":"NCBI-Disease-Test-4o-NoGuidelineInPrompt","denotations":[{"id":"T1","span":{"begin":31,"end":59},"obj":"SpecificDisease"},{"id":"T2","span":{"begin":72,"end":100},"obj":"SpecificDisease"},{"id":"T3","span":{"begin":643,"end":646},"obj":"SpecificDisease"},{"id":"T4","span":{"begin":780,"end":787},"obj":"SpecificDisease"},{"id":"T5","span":{"begin":972,"end":988},"obj":"SpecificDisease"}],"text":"Genomic structure of the human congenital chloride diarrhea (CLD) gene.\nCongenital chloride diarrhea (CLD) is caused by mutations in a gene which encodes an intestinal anion transporter. We report here the complete genomic organization of the human CLD gene which spans approximately 39kb, and comprises 21 exons. All exon/intron boundaries conform to the GT/AG rule. An analysis of the putative promoter region sequence shows a putative TATA box and predicts multiple transcription factor binding sites. The genomic structure was determined using DNA from several sources including multiple large-insert libaries and genomic DNA from Finnish CLD patients and controls. Exon-specific primers developed in this study will facilitate mutation screening studies of patients with the disease. Genomic sequencing of a BAC clone H_RG364P16 revealed the presence of another, highly homologous gene 3' of the CLD gene, with a similar genomic structure, recently identified as the Pendred syndrome gene (PDS)."}

{"project":"NCBI-Disease-Corpus-o3-2","denotations":[{"id":"T1","span":{"begin":31,"end":59},"obj":"Modifier"},{"id":"T2","span":{"begin":72,"end":100},"obj":"SpecificDisease"},{"id":"T3","span":{"begin":643,"end":646},"obj":"Modifier"},{"id":"T4","span":{"begin":972,"end":988},"obj":"Modifier"}],"text":"Genomic structure of the human congenital chloride diarrhea (CLD) gene.\nCongenital chloride diarrhea (CLD) is caused by mutations in a gene which encodes an intestinal anion transporter. We report here the complete genomic organization of the human CLD gene which spans approximately 39kb, and comprises 21 exons. All exon/intron boundaries conform to the GT/AG rule. An analysis of the putative promoter region sequence shows a putative TATA box and predicts multiple transcription factor binding sites. The genomic structure was determined using DNA from several sources including multiple large-insert libaries and genomic DNA from Finnish CLD patients and controls. Exon-specific primers developed in this study will facilitate mutation screening studies of patients with the disease. Genomic sequencing of a BAC clone H_RG364P16 revealed the presence of another, highly homologous gene 3' of the CLD gene, with a similar genomic structure, recently identified as the Pendred syndrome gene (PDS)."}

{"project":"NCBI-Disease-Corpus-high-o3-1","denotations":[{"id":"T1","span":{"begin":31,"end":59},"obj":"Modifier"},{"id":"T2","span":{"begin":61,"end":64},"obj":"Modifier"},{"id":"T3","span":{"begin":72,"end":100},"obj":"SpecificDisease"},{"id":"T4","span":{"begin":102,"end":105},"obj":"SpecificDisease"},{"id":"T5","span":{"begin":249,"end":252},"obj":"Modifier"},{"id":"T6","span":{"begin":643,"end":646},"obj":"Modifier"},{"id":"T7","span":{"begin":901,"end":904},"obj":"Modifier"},{"id":"T8","span":{"begin":972,"end":988},"obj":"Modifier"}],"text":"Genomic structure of the human congenital chloride diarrhea (CLD) gene.\nCongenital chloride diarrhea (CLD) is caused by mutations in a gene which encodes an intestinal anion transporter. We report here the complete genomic organization of the human CLD gene which spans approximately 39kb, and comprises 21 exons. All exon/intron boundaries conform to the GT/AG rule. An analysis of the putative promoter region sequence shows a putative TATA box and predicts multiple transcription factor binding sites. The genomic structure was determined using DNA from several sources including multiple large-insert libaries and genomic DNA from Finnish CLD patients and controls. Exon-specific primers developed in this study will facilitate mutation screening studies of patients with the disease. Genomic sequencing of a BAC clone H_RG364P16 revealed the presence of another, highly homologous gene 3' of the CLD gene, with a similar genomic structure, recently identified as the Pendred syndrome gene (PDS)."}

{"project":"NCBI-Disease-Corpus-high-o3-2","denotations":[{"id":"T1","span":{"begin":31,"end":59},"obj":"Modifier"},{"id":"T2","span":{"begin":61,"end":64},"obj":"Modifier"},{"id":"T3","span":{"begin":72,"end":100},"obj":"SpecificDisease"},{"id":"T4","span":{"begin":102,"end":105},"obj":"SpecificDisease"},{"id":"T5","span":{"begin":643,"end":646},"obj":"Modifier"},{"id":"T6","span":{"begin":972,"end":988},"obj":"Modifier"},{"id":"T7","span":{"begin":995,"end":998},"obj":"Modifier"}],"text":"Genomic structure of the human congenital chloride diarrhea (CLD) gene.\nCongenital chloride diarrhea (CLD) is caused by mutations in a gene which encodes an intestinal anion transporter. We report here the complete genomic organization of the human CLD gene which spans approximately 39kb, and comprises 21 exons. All exon/intron boundaries conform to the GT/AG rule. An analysis of the putative promoter region sequence shows a putative TATA box and predicts multiple transcription factor binding sites. The genomic structure was determined using DNA from several sources including multiple large-insert libaries and genomic DNA from Finnish CLD patients and controls. Exon-specific primers developed in this study will facilitate mutation screening studies of patients with the disease. Genomic sequencing of a BAC clone H_RG364P16 revealed the presence of another, highly homologous gene 3' of the CLD gene, with a similar genomic structure, recently identified as the Pendred syndrome gene (PDS)."}

{"project":"NCBI-Disease-Test-4o-GuidelineInPrompt","denotations":[{"id":"T1","span":{"begin":31,"end":59},"obj":"SpecificDisease"},{"id":"T2","span":{"begin":72,"end":100},"obj":"SpecificDisease"},{"id":"T3","span":{"begin":643,"end":646},"obj":"SpecificDisease"},{"id":"T4","span":{"begin":972,"end":988},"obj":"SpecificDisease"}],"text":"Genomic structure of the human congenital chloride diarrhea (CLD) gene.\nCongenital chloride diarrhea (CLD) is caused by mutations in a gene which encodes an intestinal anion transporter. We report here the complete genomic organization of the human CLD gene which spans approximately 39kb, and comprises 21 exons. All exon/intron boundaries conform to the GT/AG rule. An analysis of the putative promoter region sequence shows a putative TATA box and predicts multiple transcription factor binding sites. The genomic structure was determined using DNA from several sources including multiple large-insert libaries and genomic DNA from Finnish CLD patients and controls. Exon-specific primers developed in this study will facilitate mutation screening studies of patients with the disease. Genomic sequencing of a BAC clone H_RG364P16 revealed the presence of another, highly homologous gene 3' of the CLD gene, with a similar genomic structure, recently identified as the Pendred syndrome gene (PDS)."}

{"project":"NCBI-Disease-Corpus-UpdatedGuideline","denotations":[{"id":"T1","span":{"begin":31,"end":59},"obj":"SpecificDisease"},{"id":"T2","span":{"begin":61,"end":64},"obj":"SpecificDisease"},{"id":"T3","span":{"begin":72,"end":100},"obj":"SpecificDisease"},{"id":"T4","span":{"begin":102,"end":105},"obj":"SpecificDisease"},{"id":"T5","span":{"begin":249,"end":252},"obj":"SpecificDisease"},{"id":"T6","span":{"begin":643,"end":646},"obj":"SpecificDisease"},{"id":"T7","span":{"begin":901,"end":904},"obj":"SpecificDisease"},{"id":"T8","span":{"begin":972,"end":988},"obj":"SpecificDisease"},{"id":"T9","span":{"begin":995,"end":998},"obj":"SpecificDisease"}],"text":"Genomic structure of the human congenital chloride diarrhea (CLD) gene.\nCongenital chloride diarrhea (CLD) is caused by mutations in a gene which encodes an intestinal anion transporter. We report here the complete genomic organization of the human CLD gene which spans approximately 39kb, and comprises 21 exons. All exon/intron boundaries conform to the GT/AG rule. An analysis of the putative promoter region sequence shows a putative TATA box and predicts multiple transcription factor binding sites. The genomic structure was determined using DNA from several sources including multiple large-insert libaries and genomic DNA from Finnish CLD patients and controls. Exon-specific primers developed in this study will facilitate mutation screening studies of patients with the disease. Genomic sequencing of a BAC clone H_RG364P16 revealed the presence of another, highly homologous gene 3' of the CLD gene, with a similar genomic structure, recently identified as the Pendred syndrome gene (PDS)."}

{"project":"NCBI-Disease-Corpus-humanintheloop","denotations":[{"id":"T1","span":{"begin":31,"end":59},"obj":"Modifier"},{"id":"T2","span":{"begin":61,"end":64},"obj":"Modifier"},{"id":"T3","span":{"begin":72,"end":100},"obj":"SpecificDisease"},{"id":"T4","span":{"begin":102,"end":105},"obj":"SpecificDisease"},{"id":"T5","span":{"begin":249,"end":252},"obj":"Modifier"},{"id":"T6","span":{"begin":643,"end":646},"obj":"Modifier"},{"id":"T7","span":{"begin":901,"end":904},"obj":"Modifier"},{"id":"T8","span":{"begin":972,"end":988},"obj":"SpecificDisease"}],"text":"Genomic structure of the human congenital chloride diarrhea (CLD) gene.\nCongenital chloride diarrhea (CLD) is caused by mutations in a gene which encodes an intestinal anion transporter. We report here the complete genomic organization of the human CLD gene which spans approximately 39kb, and comprises 21 exons. All exon/intron boundaries conform to the GT/AG rule. An analysis of the putative promoter region sequence shows a putative TATA box and predicts multiple transcription factor binding sites. The genomic structure was determined using DNA from several sources including multiple large-insert libaries and genomic DNA from Finnish CLD patients and controls. Exon-specific primers developed in this study will facilitate mutation screening studies of patients with the disease. Genomic sequencing of a BAC clone H_RG364P16 revealed the presence of another, highly homologous gene 3' of the CLD gene, with a similar genomic structure, recently identified as the Pendred syndrome gene (PDS)."}

{"project":"NCBI-Disease-Corpus-rezarta1","denotations":[{"id":"T1","span":{"begin":31,"end":59},"obj":"Modifier"},{"id":"T2","span":{"begin":61,"end":64},"obj":"Modifier"},{"id":"T3","span":{"begin":72,"end":100},"obj":"SpecificDisease"},{"id":"T4","span":{"begin":102,"end":105},"obj":"SpecificDisease"},{"id":"T5","span":{"begin":249,"end":252},"obj":"Modifier"},{"id":"T6","span":{"begin":643,"end":646},"obj":"Modifier"},{"id":"T7","span":{"begin":901,"end":904},"obj":"Modifier"},{"id":"T8","span":{"begin":972,"end":988},"obj":"SpecificDisease"},{"id":"T9","span":{"begin":995,"end":998},"obj":"Modifier"}],"text":"Genomic structure of the human congenital chloride diarrhea (CLD) gene.\nCongenital chloride diarrhea (CLD) is caused by mutations in a gene which encodes an intestinal anion transporter. We report here the complete genomic organization of the human CLD gene which spans approximately 39kb, and comprises 21 exons. All exon/intron boundaries conform to the GT/AG rule. An analysis of the putative promoter region sequence shows a putative TATA box and predicts multiple transcription factor binding sites. The genomic structure was determined using DNA from several sources including multiple large-insert libaries and genomic DNA from Finnish CLD patients and controls. Exon-specific primers developed in this study will facilitate mutation screening studies of patients with the disease. Genomic sequencing of a BAC clone H_RG364P16 revealed the presence of another, highly homologous gene 3' of the CLD gene, with a similar genomic structure, recently identified as the Pendred syndrome gene (PDS)."}

{"project":"NCBI-Disease-Corpus-All","denotations":[{"id":"T405","span":{"begin":31,"end":59},"obj":"Modifier"},{"id":"T406","span":{"begin":61,"end":64},"obj":"Modifier"},{"id":"T407","span":{"begin":72,"end":100},"obj":"SpecificDisease"},{"id":"T408","span":{"begin":102,"end":105},"obj":"SpecificDisease"},{"id":"T409","span":{"begin":249,"end":252},"obj":"Modifier"},{"id":"T410","span":{"begin":643,"end":646},"obj":"Modifier"},{"id":"T411","span":{"begin":901,"end":904},"obj":"Modifier"},{"id":"T412","span":{"begin":972,"end":988},"obj":"Modifier"},{"id":"T413","span":{"begin":995,"end":998},"obj":"SpecificDisease"}],"attributes":[{"id":"A405","pred":"database_id","subj":"T405","obj":"C536210"},{"id":"A406","pred":"database_id","subj":"T406","obj":"C536210"},{"id":"A407","pred":"database_id","subj":"T407","obj":"C536210"},{"id":"A408","pred":"database_id","subj":"T408","obj":"C536210"},{"id":"A409","pred":"database_id","subj":"T409","obj":"C536210"},{"id":"A410","pred":"database_id","subj":"T410","obj":"C536210"},{"id":"A411","pred":"database_id","subj":"T411","obj":"C536210"},{"id":"A412","pred":"database_id","subj":"T412","obj":"C536648"},{"id":"A413","pred":"database_id","subj":"T413","obj":"C536648"}],"text":"Genomic structure of the human congenital chloride diarrhea (CLD) gene.\nCongenital chloride diarrhea (CLD) is caused by mutations in a gene which encodes an intestinal anion transporter. We report here the complete genomic organization of the human CLD gene which spans approximately 39kb, and comprises 21 exons. All exon/intron boundaries conform to the GT/AG rule. An analysis of the putative promoter region sequence shows a putative TATA box and predicts multiple transcription factor binding sites. The genomic structure was determined using DNA from several sources including multiple large-insert libaries and genomic DNA from Finnish CLD patients and controls. Exon-specific primers developed in this study will facilitate mutation screening studies of patients with the disease. Genomic sequencing of a BAC clone H_RG364P16 revealed the presence of another, highly homologous gene 3' of the CLD gene, with a similar genomic structure, recently identified as the Pendred syndrome gene (PDS)."}

{"project":"NCBI-Disease-Corpus-2stage-All","denotations":[{"id":"T1","span":{"begin":31,"end":59},"obj":"Modifier"},{"id":"T2","span":{"begin":61,"end":64},"obj":"Modifier"},{"id":"T3","span":{"begin":72,"end":100},"obj":"SpecificDisease"},{"id":"T4","span":{"begin":102,"end":105},"obj":"SpecificDisease"},{"id":"T5","span":{"begin":249,"end":252},"obj":"Modifier"},{"id":"T6","span":{"begin":643,"end":646},"obj":"Modifier"},{"id":"T7","span":{"begin":901,"end":904},"obj":"Modifier"},{"id":"T8","span":{"begin":972,"end":988},"obj":"SpecificDisease"}],"text":"Genomic structure of the human congenital chloride diarrhea (CLD) gene.\nCongenital chloride diarrhea (CLD) is caused by mutations in a gene which encodes an intestinal anion transporter. We report here the complete genomic organization of the human CLD gene which spans approximately 39kb, and comprises 21 exons. All exon/intron boundaries conform to the GT/AG rule. An analysis of the putative promoter region sequence shows a putative TATA box and predicts multiple transcription factor binding sites. The genomic structure was determined using DNA from several sources including multiple large-insert libaries and genomic DNA from Finnish CLD patients and controls. Exon-specific primers developed in this study will facilitate mutation screening studies of patients with the disease. Genomic sequencing of a BAC clone H_RG364P16 revealed the presence of another, highly homologous gene 3' of the CLD gene, with a similar genomic structure, recently identified as the Pendred syndrome gene (PDS)."}

{"project":"NCBI-Disease-Corpus-rezarta-All","denotations":[{"id":"T1","span":{"begin":31,"end":59},"obj":"Modifier"},{"id":"T2","span":{"begin":61,"end":64},"obj":"Modifier"},{"id":"T3","span":{"begin":72,"end":100},"obj":"SpecificDisease"},{"id":"T4","span":{"begin":102,"end":105},"obj":"SpecificDisease"},{"id":"T5","span":{"begin":249,"end":252},"obj":"Modifier"},{"id":"T6","span":{"begin":643,"end":646},"obj":"Modifier"},{"id":"T7","span":{"begin":901,"end":904},"obj":"Modifier"},{"id":"T8","span":{"begin":972,"end":988},"obj":"Modifier"}],"text":"Genomic structure of the human congenital chloride diarrhea (CLD) gene.\nCongenital chloride diarrhea (CLD) is caused by mutations in a gene which encodes an intestinal anion transporter. We report here the complete genomic organization of the human CLD gene which spans approximately 39kb, and comprises 21 exons. All exon/intron boundaries conform to the GT/AG rule. An analysis of the putative promoter region sequence shows a putative TATA box and predicts multiple transcription factor binding sites. The genomic structure was determined using DNA from several sources including multiple large-insert libaries and genomic DNA from Finnish CLD patients and controls. Exon-specific primers developed in this study will facilitate mutation screening studies of patients with the disease. Genomic sequencing of a BAC clone H_RG364P16 revealed the presence of another, highly homologous gene 3' of the CLD gene, with a similar genomic structure, recently identified as the Pendred syndrome gene (PDS)."}

{"project":"NCBI-Disease-Corpus-4oGuideline-All","denotations":[{"id":"T1","span":{"begin":31,"end":59},"obj":"SpecificDisease"},{"id":"T2","span":{"begin":72,"end":100},"obj":"SpecificDisease"},{"id":"T3","span":{"begin":972,"end":988},"obj":"SpecificDisease"}],"text":"Genomic structure of the human congenital chloride diarrhea (CLD) gene.\nCongenital chloride diarrhea (CLD) is caused by mutations in a gene which encodes an intestinal anion transporter. We report here the complete genomic organization of the human CLD gene which spans approximately 39kb, and comprises 21 exons. All exon/intron boundaries conform to the GT/AG rule. An analysis of the putative promoter region sequence shows a putative TATA box and predicts multiple transcription factor binding sites. The genomic structure was determined using DNA from several sources including multiple large-insert libaries and genomic DNA from Finnish CLD patients and controls. Exon-specific primers developed in this study will facilitate mutation screening studies of patients with the disease. Genomic sequencing of a BAC clone H_RG364P16 revealed the presence of another, highly homologous gene 3' of the CLD gene, with a similar genomic structure, recently identified as the Pendred syndrome gene (PDS)."}

{"project":"NCBI-Disease-Corpus-Simple-All","denotations":[{"id":"T1","span":{"begin":31,"end":59},"obj":"SpecificDisease"},{"id":"T2","span":{"begin":72,"end":100},"obj":"SpecificDisease"},{"id":"T3","span":{"begin":635,"end":642},"obj":"Modifier"},{"id":"T4","span":{"begin":643,"end":646},"obj":"SpecificDisease"},{"id":"T5","span":{"begin":972,"end":988},"obj":"SpecificDisease"}],"text":"Genomic structure of the human congenital chloride diarrhea (CLD) gene.\nCongenital chloride diarrhea (CLD) is caused by mutations in a gene which encodes an intestinal anion transporter. We report here the complete genomic organization of the human CLD gene which spans approximately 39kb, and comprises 21 exons. All exon/intron boundaries conform to the GT/AG rule. An analysis of the putative promoter region sequence shows a putative TATA box and predicts multiple transcription factor binding sites. The genomic structure was determined using DNA from several sources including multiple large-insert libaries and genomic DNA from Finnish CLD patients and controls. Exon-specific primers developed in this study will facilitate mutation screening studies of patients with the disease. Genomic sequencing of a BAC clone H_RG364P16 revealed the presence of another, highly homologous gene 3' of the CLD gene, with a similar genomic structure, recently identified as the Pendred syndrome gene (PDS)."}

{"project":"123456","denotations":[{"id":"T1","span":{"begin":31,"end":59},"obj":"Modifier"},{"id":"T2","span":{"begin":61,"end":64},"obj":"Modifier"},{"id":"T3","span":{"begin":72,"end":100},"obj":"SpecificDisease"},{"id":"T4","span":{"begin":102,"end":105},"obj":"SpecificDisease"},{"id":"T5","span":{"begin":249,"end":252},"obj":"Modifier"},{"id":"T6","span":{"begin":643,"end":646},"obj":"Modifier"},{"id":"T7","span":{"begin":901,"end":904},"obj":"Modifier"},{"id":"T8","span":{"begin":972,"end":988},"obj":"SpecificDisease"}],"text":"Genomic structure of the human congenital chloride diarrhea (CLD) gene.\nCongenital chloride diarrhea (CLD) is caused by mutations in a gene which encodes an intestinal anion transporter. We report here the complete genomic organization of the human CLD gene which spans approximately 39kb, and comprises 21 exons. All exon/intron boundaries conform to the GT/AG rule. An analysis of the putative promoter region sequence shows a putative TATA box and predicts multiple transcription factor binding sites. The genomic structure was determined using DNA from several sources including multiple large-insert libaries and genomic DNA from Finnish CLD patients and controls. Exon-specific primers developed in this study will facilitate mutation screening studies of patients with the disease. Genomic sequencing of a BAC clone H_RG364P16 revealed the presence of another, highly homologous gene 3' of the CLD gene, with a similar genomic structure, recently identified as the Pendred syndrome gene (PDS)."}

{"project":"12345","denotations":[{"id":"T1","span":{"begin":31,"end":59},"obj":"Modifier"},{"id":"T2","span":{"begin":61,"end":64},"obj":"Modifier"},{"id":"T3","span":{"begin":72,"end":100},"obj":"SpecificDisease"},{"id":"T4","span":{"begin":102,"end":105},"obj":"SpecificDisease"},{"id":"T5","span":{"begin":249,"end":252},"obj":"Modifier"},{"id":"T6","span":{"begin":643,"end":646},"obj":"SpecificDisease"},{"id":"T7","span":{"begin":901,"end":904},"obj":"Modifier"},{"id":"T8","span":{"begin":972,"end":988},"obj":"Modifier"},{"id":"T9","span":{"begin":995,"end":998},"obj":"Modifier"}],"text":"Genomic structure of the human congenital chloride diarrhea (CLD) gene.\nCongenital chloride diarrhea (CLD) is caused by mutations in a gene which encodes an intestinal anion transporter. We report here the complete genomic organization of the human CLD gene which spans approximately 39kb, and comprises 21 exons. All exon/intron boundaries conform to the GT/AG rule. An analysis of the putative promoter region sequence shows a putative TATA box and predicts multiple transcription factor binding sites. The genomic structure was determined using DNA from several sources including multiple large-insert libaries and genomic DNA from Finnish CLD patients and controls. Exon-specific primers developed in this study will facilitate mutation screening studies of patients with the disease. Genomic sequencing of a BAC clone H_RG364P16 revealed the presence of another, highly homologous gene 3' of the CLD gene, with a similar genomic structure, recently identified as the Pendred syndrome gene (PDS)."}