{ "title": "First putative sequence alterations in the minimal CFTR promoter region.", "journal": "Journal of medical genetics", "date": "1999-03", "authors": "Romey M C, Guittard C, Carles S, Demaille J, Claustres M, Ramsay M", "reference": { "type": "PubMed", "id": "10204861", "url": "https://pubmed.ncbi.nlm.nih.gov/10204861" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P13569-1", "protein_name": "Cystic fibrosis transmembrane conductance regulator", "gene_name": "CFTR", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P13569", "url": "https://www.uniprot.org/uniprot/P13569" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "snv": [ { "evidence": [ { "id": "rs121908757", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs121908757" }, { "id": "rs121908757", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs121908757" }, { "id": "rs121908757", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs121908757" }, { "id": "10204861", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/10204861" }, { "id": "10480369", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/10480369" }, { "id": "10652351", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/10652351" }, { "id": "1903761", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/1903761" }, { "id": "2236053", "database": "PubMed", "url": "https://pubmed.ncbi.nlm.nih.gov/2236053" }, { "id": "rs121909005", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs121909005" }, { "id": "rs121909005", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs121909005#frequency_tab" }, { "id": "rs121909005", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs121909005" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 549, "end_pos": 549, "sequence_org": "S", "sequence_mut": "R", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (S->R).", "chr_id": "7", "chr_pos": "117587799", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S549", "disease": [ { "disease_id": "DOID:0080526", "recommended_name": { "id": "DOID:0080526", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080526", "name": "bronchiectasis 1", "description": "A bronchiectasis that has_material_basis_in mutation in the gene encoding the beta subunit of the epithelial sodium channel on chromosome 16p12." }, "synonyms": [ { "id": "MONDO:0008887", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008887", "name": "bronchiectasis with or without elevated sweat chloride 1", "description": "" }, { "id": "MONDO:0008887", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008887", "name": "bronchiectasis with or without elevated sweat chloride 1", "description": "" }, { "id": "MONDO:0008887", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008887", "name": "bronchiectasis with or without elevated sweat chloride 1, modifier of", "description": "" }, { "id": "MONDO:0008887", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008887", "name": "bronchiectasis with or without elevated sweat chloride type 1", "description": "" }, { "id": "MONDO:0008887", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008887", "name": "BESC1", "description": "" }, { "id": "MONDO:0008887", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008887", "name": "cystic fibrosis-like syndrome", "description": "" }, { "id": "MIM:211400", "resource": "MIM", "url": "https://www.omim.org/entry/211400", "name": "Bronchiectasis with or without elevated sweat chloride 1", "description": "Bronchiectasis with or without elevated sweat chloride 1" } ] }, { "disease_id": "DOID:9563", "recommended_name": { "id": "DOID:9563", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9563", "name": "bronchiectasis", "description": "A bronchial disease that is a chronic inflammatory condition of one or more bronchi or bronchioles marked by dilatation and loss of elasticity of the walls resulting from damage to the airway wall leading to the formation of small sacs on the bronchial wall and impairment of cilia mobility in the lung. Inflammation of the bronchial wall increases mucus secretion which serves as a breeding ground for bacteria. Bronchiectasis is caused by repeated respiratory infections, immune deficiency disorders, hereditary disorders (cystic fibrosis or primary ciliary dyskinesia), mechanical factors (inhaled object or a lung tumor) or inhaling toxic substances." }, "synonyms": [ { "id": "DOID:9563", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9563", "name": "Polynesian bronchiectasis", "description": "" }, { "id": "MONDO:0008887", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008887", "name": "bronchiectasis with or without elevated sweat chloride 1", "description": "" }, { "id": "MONDO:0008887", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008887", "name": "bronchiectasis with or without elevated sweat chloride 1", "description": "" }, { "id": "MONDO:0008887", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008887", "name": "bronchiectasis with or without elevated sweat chloride 1, modifier of", "description": "" }, { "id": "MONDO:0008887", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008887", "name": "bronchiectasis with or without elevated sweat chloride type 1", "description": "" }, { "id": "MONDO:0008887", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008887", "name": "BESC1", "description": "" }, { "id": "MONDO:0008887", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008887", "name": "cystic fibrosis-like syndrome", "description": "" }, { "id": "MIM:211400", "resource": "MIM", "url": "https://www.omim.org/entry/211400", "name": "Bronchiectasis with or without elevated sweat chloride 1", "description": "Bronchiectasis with or without elevated sweat chloride 1" } ] }, { "disease_id": "DOID:0111864", "recommended_name": { "id": "DOID:0111864", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111864", "name": "autosomal recessive congenital bilateral absence of vas deferens", "description": "A congenital bilateral absence of vas deferens that has_material_basis_in homozygous or compound heterozygous mutation in the CFTR gene on chromosome 7q31.2." }, "synonyms": [ { "id": "MONDO:0010178", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010178", "name": "congenital bilateral aplasia of vas deferens from CFTR mutation", "description": "An autosomal recessive disorder that is associated with mutation(s) in the CFTR gene, encoding cystic fibrosis transmembrane conductance regulator. Mutation(s) in the same gene are associated with cystic fibrosis." }, { "id": "MONDO:0010178", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010178", "name": "congenital bilateral absence of vas deferens", "description": "" }, { "id": "MONDO:0010178", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010178", "name": "congenital bilateral aplasia of the vas deferens", "description": "" }, { "id": "MONDO:0010178", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010178", "name": "vas deferens, congenital bilateral aplasia of", "description": "" }, { "id": "MONDO:0010178", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010178", "name": "CAVD", "description": "" }, { "id": "MONDO:0010178", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010178", "name": "CBAVD", "description": "" }, { "id": "MIM:277180", "resource": "MIM", "url": "https://www.omim.org/entry/277180", "name": "Congenital bilateral absence of the vas deferens", "description": "Congenital bilateral absence of the vas deferens" } ] }, { "disease_id": "DOID:0111862", "recommended_name": { "id": "DOID:0111862", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111862", "name": "congenital bilateral absence of vas deferens", "description": "A male infertility that is characterized by bilateral absence of the vas deferens resulting in obstroctive azoospermia and male infertility." }, "synonyms": [ { "id": "DOID:0111862", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111862", "name": "CAVD", "description": "" }, { "id": "DOID:0111862", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111862", "name": "CBAVD", "description": "" }, { "id": "DOID:0111862", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111862", "name": "congenital bilateral agenesis of vas deferens", "description": "" }, { "id": "DOID:0111862", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111862", "name": "congenital bilateral aplasia of vas deferens", "description": "" }, { "id": "MONDO:0010178", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010178", "name": "congenital bilateral aplasia of vas deferens from CFTR mutation", "description": "An autosomal recessive disorder that is associated with mutation(s) in the CFTR gene, encoding cystic fibrosis transmembrane conductance regulator. Mutation(s) in the same gene are associated with cystic fibrosis." }, { "id": "MONDO:0010178", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010178", "name": "congenital bilateral absence of vas deferens", "description": "" }, { "id": "MONDO:0010178", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010178", "name": "congenital bilateral aplasia of the vas deferens", "description": "" }, { "id": "MONDO:0010178", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010178", "name": "vas deferens, congenital bilateral aplasia of", "description": "" }, { "id": "MONDO:0010178", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010178", "name": "CAVD", "description": "" }, { "id": "MONDO:0010178", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010178", "name": "CBAVD", "description": "" }, { "id": "MIM:277180", "resource": "MIM", "url": "https://www.omim.org/entry/277180", "name": "Congenital bilateral absence of the vas deferens", "description": "Congenital bilateral absence of the vas deferens" } ] }, { "disease_id": "DOID:1485", "recommended_name": { "id": "DOID:1485", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1485", "name": "cystic fibrosis", "description": "A syndrome that is characterized by the buildup of thick, sticky mucus that can damage many organs." }, "synonyms": [ { "id": "DOID:1485", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1485", "name": "CF", "description": "" }, { "id": "DOID:1485", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1485", "name": "mucoviscidosis", "description": "" }, { "id": "MONDO:0009061", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009061", "name": "cystic fibrosis", "description": "Cystic fibrosis (CF) is a genetic disorder characterized by the production of sweat with a high salt content and mucus secretions with an abnormal viscosity." }, { "id": "MONDO:0009061", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009061", "name": "CF", "description": "" }, { "id": "MONDO:0009061", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009061", "name": "cystic fibrosis", "description": "" }, { "id": "MONDO:0009061", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009061", "name": "cystic fibrosis lung disease, modifier of", "description": "" }, { "id": "MONDO:0009061", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009061", "name": "mucoviscidosis", "description": "" }, { "id": "MONDO:0009061", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009061", "name": "pseudomonas aeruginosa, susceptibility to chronic infection by, in cystic fibrosis", "description": "" }, { "id": "MIM:219700", "resource": "MIM", "url": "https://www.omim.org/entry/219700", "name": "Cystic fibrosis", "description": "Cystic fibrosis" } ] }, { "disease_id": "DOID:4989", "recommended_name": { "id": "DOID:4989", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4989", "name": "pancreatitis", "description": "A pancreas disease that is characterized by inflammation of the pancreas." }, "synonyms": [ { "id": "MONDO:0008185", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008185", "name": "hereditary chronic pancreatitis", "description": "Hereditary chronic pancreatitis (HCP), a rare inherited form of pancreatitis is defined as recurrent acute pancreatitis and/or chronic pancreatitis in two first-degree relatives or 3 or more second-degree relatives in 2 or more generations, for which no predisposing factors are identified. HCP is characterized by irreversible damage to both exocrine and endocrine components of the pancreas." }, { "id": "MONDO:0008185", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008185", "name": "hereditary chronic pancreatitis", "description": "" }, { "id": "MONDO:0008185", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008185", "name": "hereditary pancreatitis", "description": "" }, { "id": "MONDO:0008185", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008185", "name": "HPC", "description": "" }, { "id": "MONDO:0008185", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008185", "name": "Hp", "description": "" }, { "id": "MONDO:0008185", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008185", "name": "PCTT", "description": "" }, { "id": "MONDO:0008185", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008185", "name": "autosomal dominant hereditary pancreatitis", "description": "" }, { "id": "MONDO:0008185", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008185", "name": "familial pancreatitis", "description": "" }, { "id": "MONDO:0008185", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008185", "name": "pancreatitis, calcific", "description": "" }, { "id": "MONDO:0008185", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008185", "name": "pancreatitis, calcific, included", "description": "" }, { "id": "MONDO:0008185", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008185", "name": "pancreatitis, chronic", "description": "" }, { "id": "MONDO:0008185", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008185", "name": "pancreatitis, chronic pancreatitis, chronic, susceptibility to, included", "description": "" }, { "id": "MONDO:0008185", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008185", "name": "pancreatitis, chronic, protection against", "description": "" }, { "id": "MONDO:0008185", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008185", "name": "pancreatitis, chronic, protection against, included", "description": "" }, { "id": "MONDO:0008185", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008185", "name": "pancreatitis, chronic, susceptibility to", "description": "" }, { "id": "MONDO:0008185", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008185", "name": "pancreatitis, hereditary", "description": "" }, { "id": "MIM:167800", "resource": "MIM", "url": "https://www.omim.org/entry/167800", "name": "Pancreatitis, hereditary", "description": "Pancreatitis, hereditary" } ] } ], "keywords": [ "ebi", "germline", "disease" ], "uniprot_canonical_ac": "P13569-1" } ], "record_id": "pubmed.10204861", "abstract": "", "glycosylation": [], 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