{ "uniprot_canonical_ac": "P51795-2", "uniprot_ac": "P51795", "uniprot_id": "CLCN5_HUMAN", "mass": { "chemical_mass": 90785.0, "monoisotopic_mass": 90785.0 }, "refseq": { "ac": "NP_000075", "name": "H(+)/Cl(-) exchange transporter 5 isoform b", "summary": "This gene encodes a member of the ClC family of chloride ion channels and ion transporters. The encoded protein is primarily localized to endosomal membranes and may function to facilitate albumin uptake by the renal proximal tubule. Mutations in this gene have been found in Dent disease and renal tubular disorders complicated by nephrolithiasis. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2013].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000075" }, "gene_names": [ { "name": "CLCN5", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P51795", "id": "P51795" }, { "name": "CLCK2", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P51795", "id": "P51795" }, { "name": "CLCN5", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000075", "id": "NP_000075" }, { "name": "ClC-5; CLC5; CLCK2; DENT1; DENTS; hCIC-K2; NPHL1; NPHL2; XLRH; XRN", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000075", "id": "NP_000075" } ], "protein_names": [ { "name": "H(+)/Cl(-) exchange transporter 5", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P51795" }, { "name": "Chloride channel protein 5", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P51795" }, { "name": "Chloride transporter ClC-5", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P51795" }, { "name": "ClC-5", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P51795" }, { "name": "H(+)/Cl(-) exchange transporter 5 isoform b", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000075", "id": "NP_000075" }, { "name": "H(+)/Cl(-) exchange transporter 5; chloride transporter ClC-5; voltage-gated chloride ion channel CLCN5; chloride channel, voltage-sensitive 5", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000075", "id": "NP_000075" } ], "function": [ { "annotation": "A Study on the CLCN5 Gene in Iranian Patients: A Report of Novel and Recurrent Mutations.", "evidence": [ { "database": "RefSeq", "id": "NP_000075", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000075" }, { "database": "PubMed", "id": "36646056", "url": "https://glygen.org/publication/PubMed/36646056" } ] }, { "annotation": "Dent's disease phenotype may be explained by mutations that affect so far unknown regulating elements of the CLCN5 gene or another gene(s), probably encoding CLC-5 accessory protein(s)", "evidence": [ { "database": "RefSeq", "id": "NP_000075", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000075" }, { "database": "PubMed", "id": "12886045", "url": "https://glygen.org/publication/PubMed/12886045" } ] }, { "annotation": "Emerging Perspectives on the Rare Tubulopathy Dent Disease: Is Glomerular Damage a Direct Consequence of ClC-5 Dysfunction? Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_000075", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000075" }, { "database": "PubMed", "id": "36674829", "url": "https://glygen.org/publication/PubMed/36674829" } ] }, { "annotation": "Phenotypic spectrum and antialbuminuric response to angiotensin converting enzyme inhibitor and angiotensin receptor blocker therapy in pediatric Dent disease.", "evidence": [ { "database": "RefSeq", "id": "NP_000075", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000075" }, { "database": "PubMed", "id": "32495484", "url": "https://glygen.org/publication/PubMed/32495484" } ] }, { "annotation": "Proton-coupled chloride transporter. Functions as antiport system and exchanges chloride ions against protons (PubMed:20466723). Important for normal acidification of the endosome lumen. May play an important role in renal tubular function. The CLC channel family contains both chloride channels and proton-coupled anion transporters that exchange chloride or another anion for protons. The absence of conserved gating glutamate residues is typical for family members that function as channels (Probable).", "evidence": [ { "database": "UniProtKB", "id": "P51795", "url": "https://www.uniprot.org/uniprot/P51795#function" }, { "database": "PubMed", "id": "20466723", "url": "https://glygen.org/publication/PubMed/20466723" } ] }, { "annotation": "This gene encodes a member of the ClC family of chloride ion channels and ion transporters. The encoded protein is primarily localized to endosomal membranes and may function to facilitate albumin uptake by the renal proximal tubule. Mutations in this gene have been found in Dent disease and renal tubular disorders complicated by nephrolithiasis. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2013].", "evidence": [ { "database": "RefSeq", "id": "NP_000075", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000075" } ] } ], "disease": [ { "disease_id": "DOID:0050699", "recommended_name": { "id": "DOID:0050699", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050699", "name": "Dent disease", "description": "A renal tubular transport disease that is characterized by tubular proteinuria, hypercalciuria, calcium nephrolithiasis, nephrocalcinosis and chronic kidney failure and has_material_basis_in X-linked recessive inheritance of mutations in the CLCN5 gene or OCRL1 gene." }, "synonyms": [ { "id": "DOID:0050699", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050699", "name": "Dent disease 1", "description": "" }, { "id": "DOID:0050699", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050699", "name": "Dent disease 2", "description": "" }, { "id": "DOID:0050699", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050699", "name": "Dent's disease", "description": "" }, { "id": "MONDO:0010359", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010359", "name": "Dent disease type 2", "description": "Dent disease type 2 is a type of Dent disease in which patients have the manifestations of Dent disease type 1 associated with extra-renal features." }, { "id": "MONDO:0010359", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010359", "name": "Dent disease caused by mutation in OCRL", "description": "" }, { "id": "MONDO:0010359", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010359", "name": "Dent disease type 2", "description": "" }, { "id": "MONDO:0010359", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010359", "name": "OCRL Dent disease", "description": "" }, { "id": "MONDO:0010359", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010359", "name": "dent disease 2, X-linked recessive", "description": "" }, { "id": "MONDO:0010359", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010359", "name": "nephrolithiasis type 2", "description": "" }, { "id": "MONDO:0010359", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010359", "name": "DENT disease 2", "description": "" }, { "id": "MONDO:0010225", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010225", "name": "Dent disease type 1", "description": "Dent disease type 1 is a type of Dent disease with predominantly renal manifestations." }, { "id": "MONDO:0010225", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010225", "name": "CLCN5 Dent disease", "description": "" }, { "id": "MONDO:0010225", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010225", "name": "Dent disease caused by mutation in CLCN5", "description": "" }, { "id": "MONDO:0010225", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010225", "name": "Dent disease type 1", "description": "" }, { "id": "MONDO:0010225", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010225", "name": "dent disease 1, X-linked recessive", "description": "" }, { "id": "MONDO:0010225", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010225", "name": "nephrolithiasis type 1", "description": "" }, { "id": "MONDO:0010225", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010225", "name": "DENT disease 1", "description": "" }, { "id": "MONDO:0010225", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010225", "name": "nephrolithiasis 2", "description": "" }, { "id": "MONDO:0010225", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010225", "name": "nephrolithiasis, hypercalciuric, X-linked", "description": "" }, { "id": "MONDO:0010225", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010225", "name": "urolithiasis, hypercalciuric, X-linked", "description": "" }, { "id": "MIM:300555", "resource": "MIM", "url": "https://www.omim.org/entry/300555", "name": "Dent disease 2", "description": "Dent disease 2" }, { "id": "MIM:300009", "resource": "MIM", "url": "https://www.omim.org/entry/300009", "name": "Dent disease 1", "description": "Dent disease 1" } ], "evidence": [ { "id": "300009", "database": "MIM", "url": "https://www.omim.org/entry/300009" } ] }, { "disease_id": "DOID:0080353", "recommended_name": { "id": "DOID:0080353", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080353", "name": "X-linked recessive hypophosphatemic rickets", "description": "A rickets that has_material_basis_in mutation in the CLCN5 gene on chromosome Xp11.22." }, "synonyms": [ { "id": "MONDO:0010358", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010358", "name": "hypophosphatemic rickets, X-linked recessive", "description": "Any X-linked hypophosphatemic rickets in which the cause of the disease is a mutation in the CLCN5 gene." }, { "id": "MONDO:0010358", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010358", "name": "CLCN5 X-linked hypophosphatemic rickets", "description": "" }, { "id": "MONDO:0010358", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010358", "name": "X-linked hypophosphatemic rickets caused by mutation in CLCN5", "description": "" }, { "id": "MONDO:0010358", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010358", "name": "hypophosphatemic rickets, X-linked recessive", "description": "" }, { "id": "MIM:300554", "resource": "MIM", "url": "https://www.omim.org/entry/300554", "name": "Hypophosphatemic rickets, X-linked recessive", "description": "Hypophosphatemic rickets, X-linked recessive" } ], "evidence": [ { "id": "300554", "database": "MIM", "url": "https://www.omim.org/entry/300554" } ] }, { "disease_id": "DOID:0111798", "recommended_name": { "id": "DOID:0111798", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111798", "name": "X-linked nephrolithiasis type I", "description": "A renal tubular transport disease characterized by proximal renal tubular reabsorptive failure, hypercalciuria, nephrolithiasis, and renal insufficiency with absence of rickets that has_material_basis_in hemizygous or homozygous mutation in the CLCN5 gene on chromosome Xp11.23." }, "synonyms": [ { "id": "DOID:0111798", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111798", "name": "NPHL1", "description": "" }, { "id": "DOID:0111798", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111798", "name": "XRN", "description": "" }, { "id": "DOID:0111798", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111798", "name": "X-linked nephrolithiasis with renal failure", "description": "" }, { "id": "DOID:0111798", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111798", "name": "X-linked recessive urolithiasis type 1", "description": "" }, { "id": "DOID:0111798", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111798", "name": "nephrolithiasis 1", "description": "" }, { "id": "DOID:0111798", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111798", "name": "nephrolithiasis X-linked recessive type 1", "description": "" }, { "id": "MONDO:0010687", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010687", "name": "nephrolithiasis, X-linked recessive, with renal failure", "description": "" }, { "id": "MONDO:0010687", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010687", "name": "nephrolithiasis, X-linked recessive, with renal failure", "description": "" }, { "id": "MONDO:0010687", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010687", "name": "nephrolithiasis, type i, X-linked recessive", "description": "" }, { "id": "MONDO:0010687", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010687", "name": "XRN", "description": "" }, { "id": "MONDO:0010687", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010687", "name": "nephrolithiasis 1", "description": "" }, { "id": "MONDO:0010687", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010687", "name": "nephrolithiasis, X-linked recessive, type 1", "description": "" }, { "id": "MONDO:0010687", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010687", "name": "urolithiasis, X-linked recessive, type 1", "description": "" }, { "id": "MIM:310468", "resource": "MIM", "url": "https://www.omim.org/entry/310468", "name": "Nephrolithiasis, X-linked recessive, with renal failure", "description": "Nephrolithiasis, X-linked recessive, with renal failure" } ], "evidence": [ { "id": "310468", "database": "MIM", "url": "https://www.omim.org/entry/310468" } ] }, { "disease_id": "DOID:0111815", "recommended_name": { "id": "DOID:0111815", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111815", "name": "low molecular weight proteinuria with hypercalciuric nephrocalcinosis", "description": "A Dent disease characterized by elevted levels of low molecular weight proteins in the urine, hypercalciuria, and nephrocalcinosis that has_material_basis_in hemizygous or homozygous mutation in the CLCN5 gene on chromosome Xp11.22." }, "synonyms": [ { "id": "MONDO:0010644", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010644", "name": "proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis", "description": "" }, { "id": "MONDO:0010644", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010644", "name": "proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis", "description": "" }, { "id": "MONDO:0010644", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010644", "name": "proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis, X-linked recessive", "description": "" }, { "id": "MIM:308990", "resource": "MIM", "url": "https://www.omim.org/entry/308990", "name": "Low molecular weight proteinuria with hypercalciuria and nephrocalcinosis", "description": "Low molecular weight proteinuria with hypercalciuria and nephrocalcinosis" } ], "evidence": [ { "id": "308990", "database": "MIM", "url": "https://www.omim.org/entry/308990" } ] } ], "snv": [ { "evidence": [ { "id": "P51795", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P51795" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 146, "end_pos": 146, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "D", "sequence_mut": "N", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (DIS->NIS).", "chr_id": "X", "chr_pos": "50075815", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "D146", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "adenocarcinoma of lung, susceptibility to", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": 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"MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", 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"https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, 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"https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "P51795", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P51795" } ], "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { 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"https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", 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This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx." }, "synonyms": [ { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck tumours", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head/neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "tumor of head and neck", "description": "" } ] } ] }, { "significant": "No", "trend": "down", "name": "Lung cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1324", "evidence": [ { "database": "BioXpress", "id": "P51795", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P51795" } ], "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "adenocarcinoma of lung, susceptibility to", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "Nonsmall cell lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "alveolar cell carcinoma", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung neoplasm", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Breast cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1612", "evidence": [ { "database": "BioXpress", "id": "P51795", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P51795" } ], "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "A thoracic cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "P51795", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P51795" } ], "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid neoplasm", "description": "" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Kidney cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:263", "evidence": [ { "database": "BioXpress", "id": "P51795", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P51795" } ], "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { "database": "BioXpress", "id": "P51795", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P51795" } ], "disease": [ { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "liver cancer", "description": "A hepatobiliary system cancer that is located_in the liver." }, "synonyms": [ { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "non-resectable primary hepatic malignant neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary liver cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "resectable malignant neoplasm of the liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, not specified as primary or secondary", "description": "" } ] } ] }, { "significant": "No", "trend": "down", "name": "Uterine cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:363", "evidence": [ { "database": "BioXpress", "id": "P51795", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P51795" } ], "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ] } ] }, { "significant": "No", "trend": "down", "name": "Esophageal cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:5041", "evidence": [ { "database": "BioXpress", "id": "P51795", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P51795" } ], "disease": [ { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": 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"http://www.pantherdb.org/panther/family.do?clsAccession=PTHR45711:SF7", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "2J9L", "url": "https://www.rcsb.org/structure/2J9L", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "2JA3", "url": "https://www.rcsb.org/structure/2JA3", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "PF00571", "url": "http://pfam.xfam.org/family/PF00571", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF00654", "url": "http://pfam.xfam.org/family/PF00654", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "P51795", "url": "https://pharos.nih.gov/targets/P51795", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_P51795", "url": "http://purl.obolibrary.org/obo/PR_P51795", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-2672351", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2672351", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_000075", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000075", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "29567", "url": "https://www.rhea-db.org/rhea/29567", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "P51795", "url": "https://www.uniprot.org/uniprot/P51795", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P51795-1", "url": "https://www.uniprot.org/uniprot/P51795-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P51795-2", "url": "https://www.uniprot.org/uniprot/P51795-2", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MAMWQGAMDNRGFQQGSFSSFQNSSSDEDLMDIPATAMDFSMRDDVPPLDREVGEDKSYNGGGIGSSNRIMDFLEEPIPGVGTYDDFNTIDWVREKSRDRDRHREITNKSKESTWALIHSVSDAFSGWLLMLLIGLLSGSLAGLIDISAHWMTDLKEGICTGGFWFNHEHCCWNSEHVTFEERDKCPEWNSWSQLIISTDEGAFAYIVNYFMYVLWALLFAFLAVSLVKVFAPYACGSGIPEIKTILSGFIIRGYLGKWTLVIKTITLVLAVSSGLSLGKEGPLVHVACCCGNILCHCFNKYRKNEAKRREVLSAAAAAGVSVAFGAPIGGVLFSLEEVSYYFPLKTLWRSFFAALVAAFTLRSINPFGNSRLVLFYVEFHTPWHLFELVPFILLGIFGGLWGALFIRTNIAWCRKRKTTQLGKYPVIEVLVVTAITAILAFPNEYTRMSTSELISELFNDCGLLDSSKLCDYENRFNTSKGGELPDRPAGVGVYSAMWQLALTLILKIVITIFTFGMKIPSGLFIPSMAVGAIAGRLLGVGMEQLAYYHQEWTVFNSWCSQGADCITPGLYAMVGAAACLGGVTRMTVSLVVIMFELTGGLEYIVPLMAAAMTSKWVADALGREGIYDAHIRLNGYPFLEAKEEFAHKTLAMDVMKPRRNDPLLTVLTQDSMTVEDVETIISETTYSGFPVVVSRESQRLVGFVLRRDLIISIENARKKQDGVVSTSIIYFTEHSPPLPPYTPPTLKLRNILDLSPFTVTDLTPMEIVVDIFRKLGLRQCLVTHNGRLLGIITKKDVLKHIAQMANQDPDSILFN", "length": 816, "header": "sp|P51795-2|CLCN5_HUMAN Isoform 2 of H(+)/Cl(-) exchange transporter 5 OS=Homo sapiens OX=9606 GN=CLCN5 PE=1 SV=2 CANONICAL=P51795-2" }, "isoforms": [ { "isoform_ac": "P51795-1", "url": "", "sequence": { "sequence": "MDFLEEPIPGVGTYDDFNTIDWVREKSRDRDRHREITNKSKESTWALIHSVSDAFSGWLLMLLIGLLSGSLAGLIDISAHWMTDLKEGICTGGFWFNHEHCCWNSEHVTFEERDKCPEWNSWSQLIISTDEGAFAYIVNYFMYVLWALLFAFLAVSLVKVFAPYACGSGIPEIKTILSGFIIRGYLGKWTLVIKTITLVLAVSSGLSLGKEGPLVHVACCCGNILCHCFNKYRKNEAKRREVLSAAAAAGVSVAFGAPIGGVLFSLEEVSYYFPLKTLWRSFFAALVAAFTLRSINPFGNSRLVLFYVEFHTPWHLFELVPFILLGIFGGLWGALFIRTNIAWCRKRKTTQLGKYPVIEVLVVTAITAILAFPNEYTRMSTSELISELFNDCGLLDSSKLCDYENRFNTSKGGELPDRPAGVGVYSAMWQLALTLILKIVITIFTFGMKIPSGLFIPSMAVGAIAGRLLGVGMEQLAYYHQEWTVFNSWCSQGADCITPGLYAMVGAAACLGGVTRMTVSLVVIMFELTGGLEYIVPLMAAAMTSKWVADALGREGIYDAHIRLNGYPFLEAKEEFAHKTLAMDVMKPRRNDPLLTVLTQDSMTVEDVETIISETTYSGFPVVVSRESQRLVGFVLRRDLIISIENARKKQDGVVSTSIIYFTEHSPPLPPYTPPTLKLRNILDLSPFTVTDLTPMEIVVDIFRKLGLRQCLVTHNGRLLGIITKKDVLKHIAQMANQDPDSILFN", "length": 746, "header": "sp|P51795-1|CLCN5_HUMAN Isoform 1 of H(+)/Cl(-) exchange transporter 5 OS=Homo sapiens OX=9606 GN=CLCN5 PE=1 SV=2 CANONICAL=P51795-2" }, "locus": { "chromosome": "X", "start_pos": 50092216, "end_pos": 50069926, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000307367.2", "url": "https://www.ensembl.org/id/ENST00000307367.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000304257.2", "url": "https://www.ensembl.org/id/ENSP00000304257.2" } ] } }, { "isoform_ac": "P51795-2", "url": "", "sequence": { "sequence": "MAMWQGAMDNRGFQQGSFSSFQNSSSDEDLMDIPATAMDFSMRDDVPPLDREVGEDKSYNGGGIGSSNRIMDFLEEPIPGVGTYDDFNTIDWVREKSRDRDRHREITNKSKESTWALIHSVSDAFSGWLLMLLIGLLSGSLAGLIDISAHWMTDLKEGICTGGFWFNHEHCCWNSEHVTFEERDKCPEWNSWSQLIISTDEGAFAYIVNYFMYVLWALLFAFLAVSLVKVFAPYACGSGIPEIKTILSGFIIRGYLGKWTLVIKTITLVLAVSSGLSLGKEGPLVHVACCCGNILCHCFNKYRKNEAKRREVLSAAAAAGVSVAFGAPIGGVLFSLEEVSYYFPLKTLWRSFFAALVAAFTLRSINPFGNSRLVLFYVEFHTPWHLFELVPFILLGIFGGLWGALFIRTNIAWCRKRKTTQLGKYPVIEVLVVTAITAILAFPNEYTRMSTSELISELFNDCGLLDSSKLCDYENRFNTSKGGELPDRPAGVGVYSAMWQLALTLILKIVITIFTFGMKIPSGLFIPSMAVGAIAGRLLGVGMEQLAYYHQEWTVFNSWCSQGADCITPGLYAMVGAAACLGGVTRMTVSLVVIMFELTGGLEYIVPLMAAAMTSKWVADALGREGIYDAHIRLNGYPFLEAKEEFAHKTLAMDVMKPRRNDPLLTVLTQDSMTVEDVETIISETTYSGFPVVVSRESQRLVGFVLRRDLIISIENARKKQDGVVSTSIIYFTEHSPPLPPYTPPTLKLRNILDLSPFTVTDLTPMEIVVDIFRKLGLRQCLVTHNGRLLGIITKKDVLKHIAQMANQDPDSILFN", "length": 816, "header": "sp|P51795-2|CLCN5_HUMAN Isoform 2 of H(+)/Cl(-) exchange transporter 5 OS=Homo sapiens OX=9606 GN=CLCN5 PE=1 SV=2 CANONICAL=P51795-2" }, "locus": { "chromosome": "X", "start_pos": 50092216, "end_pos": 49925299, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000376088.7", "url": "https://www.ensembl.org/id/ENST00000376088.7" }, { "database": "Ensembl Peptide", "id": "ENSP00000365256.3", "url": "https://www.ensembl.org/id/ENSP00000365256.3" } ] } } ], "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 475, "start_aa": "Asn", "end_pos": 475, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn475", "evidence": [ { "id": "24190977", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/24190977" }, { "id": "GLY_000143", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000143" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 478, "start_aa": "Asn", "end_pos": 478, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn478", "evidence": [ { "id": "24190977", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/24190977" }, { "id": "GLY_000143", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000143" } ] } ], "phosphorylation": [], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_reported" ], "publication": [ { "title": "Expression of CLCN voltage-gated chloride channel genes in human blood vessels.", "journal": "J. Mol. Cell. Cardiol.", "date": "1999", "authors": "Smith R.L., Schutte B.C., Barna T.J., Clayton G.H., Lamb F.S., Liu B.-X.", "evidence": [ { "database": "UniProtKB", "id": "P51795", "url": "https://www.uniprot.org/uniprot/P51795" } ], "reference": [ { "type": "PubMed", "id": "10198195", "url": "https://glygen.org/publication/PubMed/10198195" } ] }, { "title": "Identification of an acid-activated Cl(-) channel from human skeletal muscles.", "journal": "The American journal of physiology", "date": "1999", "authors": "Kawasaki M, Fukuma T, Yamauchi K, Sakamoto H, Marumo F, Sasaki S", "evidence": [ { "database": "Reactome", "id": "R-HSA-2672351", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2672351" } ], "reference": [ { "type": "PubMed", "id": "10564087", "url": "https://glygen.org/publication/PubMed/10564087" } ] }, { "title": "Human Nedd4 interacts with the human epithelial Na+ channel: WW3 but not WW1 binds to Na+-channel subunits.", "journal": "The Biochemical journal", "date": "2000", "authors": "Farr TJ, Coddington-Lawson SJ, Snyder PM, McDonald FJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-2672351", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2672351" } ], "reference": [ { "type": "PubMed", "id": "10642508", "url": "https://glygen.org/publication/PubMed/10642508" } ] }, { "title": "Regulation of the epithelial Na+ channel by Nedd4 and ubiquitination.", "journal": "Kidney international", "date": "2000", "authors": "Staub O, Abriel H, Plant P, Ishikawa T, Kanelis V, Saleki R, Horisberger JD, Schild L, Rotin D", "evidence": [ { "database": "Reactome", "id": "R-HSA-2672351", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2672351" } ], "reference": [ { "type": "PubMed", "id": "10720933", "url": "https://glygen.org/publication/PubMed/10720933" } ] }, { "title": "Molecular cloning, functional expression and chromosomal localization of an amiloride-sensitive Na(+) channel from human small intestine.", "journal": "FEBS letters", "date": "2000", "authors": "Schaefer L, Sakai H, Mattei M, Lazdunski M, Lingueglia E", "evidence": [ { "database": "Reactome", "id": "R-HSA-2672351", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2672351" } ], "reference": [ { "type": "PubMed", "id": "10767424", "url": "https://glygen.org/publication/PubMed/10767424" } ] }, { "title": "PKA phosphorylation dissociates FKBP12.6 from the calcium release channel (ryanodine receptor): defective regulation in failing hearts.", "journal": "Cell", "date": "2000", "authors": "Marx SO, Reiken S, Hisamatsu Y, Jayaraman T, Burkhoff D, Rosemblit N, Marks AR", "evidence": [ { "database": "Reactome", "id": "R-HSA-2672351", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2672351" } ], "reference": [ { "type": "PubMed", "id": "10830164", "url": "https://glygen.org/publication/PubMed/10830164" } ] }, { "title": "Functional and structural analysis of ClC-K chloride channels involved in renal disease.", "journal": "The Journal of biological chemistry", "date": "2000", "authors": "Waldegger S, Jentsch TJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-2672351", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2672351" } ], "reference": [ { "type": "PubMed", "id": "10831588", "url": "https://glygen.org/publication/PubMed/10831588" } ] }, { "title": "Identification of two novel mutations in the CLCN5 gene in Japanese patients with familial idiopathic low molecular weight proteinuria (Japanese Dent's disease).", "journal": "Am. J. Kidney Dis.", "date": "2001", "authors": "Takemura T, Hino S, Ikeda M, Okada M, Igarashi T, Inatomi J, Yoshioka K", "evidence": [ { "database": "UniProtKB", "id": "P51795", "url": "https://www.uniprot.org/uniprot/P51795" } ], "reference": [ { "type": "PubMed", "id": "11136179", "url": "https://glygen.org/publication/PubMed/11136179" } ] }, { "title": "Disruption of ClC-3, a chloride channel expressed on synaptic vesicles, leads to a loss of the hippocampus.", "journal": "Neuron", "date": "2001", "authors": "Stobrawa SM, Breiderhoff T, Takamori S, Engel D, Schweizer M, Zdebik AA, Bosl MR, Ruether K, Jahn H, Draguhn A, Jahn R, Jentsch TJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-2672351", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2672351" } ], "reference": [ { "type": "PubMed", "id": "11182090", "url": "https://glygen.org/publication/PubMed/11182090" } ] }, { "title": "Nonsteroid anti-inflammatory drugs inhibit both the activity and the inflammation-induced expression of acid-sensing ion channels in nociceptors.", "journal": "The Journal of neuroscience : the official journal of the Society for Neuroscience", "date": "2001", "authors": "Voilley N, de Weille J, Mamet J, Lazdunski M", "evidence": [ { "database": "Reactome", "id": "R-HSA-2672351", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2672351" } ], "reference": [ { "type": "PubMed", "id": "11588175", "url": "https://glygen.org/publication/PubMed/11588175" } ] }, { "title": "Mutation of BSND causes Bartter syndrome with sensorineural deafness and kidney failure.", "journal": "Nature genetics", "date": "2001", "authors": "Birkenhager R, Otto E, Schurmann MJ, Vollmer M, Ruf EM, Maier-Lutz I, Beekmann F, Fekete A, Omran H, Feldmann D, Milford DV, Jeck N, Konrad M, Landau D, Knoers NV, Antignac C, Sudbrak R, Kispert A, Hildebrandt F", "evidence": [ { "database": "Reactome", "id": "R-HSA-2672351", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2672351" } ], "reference": [ { "type": "PubMed", "id": "11687798", "url": "https://glygen.org/publication/PubMed/11687798" } ] }, { "title": "Barttin is a Cl- channel beta-subunit crucial for renal Cl- reabsorption and inner ear K+ secretion.", "journal": "Nature", "date": "2001", "authors": "Estevez R, Boettger T, Stein V, Birkenhager R, Otto E, Hildebrandt F, Jentsch TJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-2672351", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2672351" } ], "reference": [ { "type": "PubMed", "id": "11734858", "url": "https://glygen.org/publication/PubMed/11734858" } ] }, { "title": "A calcium-activated chloride channel (HCLCA1) is strongly related to IL-9 expression and mucus production in bronchial epithelium of patients with asthma.", "journal": "The Journal of allergy and clinical immunology", "date": "2002", "authors": "Toda M, Tulic MK, Levitt RC, Hamid Q", "evidence": [ { "database": "Reactome", "id": "R-HSA-2672351", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2672351" } ], "reference": [ { "type": "PubMed", "id": "11842292", "url": "https://glygen.org/publication/PubMed/11842292" } ] }, { "title": "The vitelliform macular dystrophy protein defines a new family of chloride channels.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2002", "authors": "Sun H, Tsunenari T, Yau KW, Nathans J", "evidence": [ { "database": "Reactome", "id": "R-HSA-2672351", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2672351" } ], "reference": [ { "type": "PubMed", "id": "11904445", "url": "https://glygen.org/publication/PubMed/11904445" } ] }, { "title": "Increased expression of the human Ca2+-activated Cl- channel 1 (CaCC1) gene in the asthmatic airway.", "journal": "American journal of respiratory and critical care medicine", "date": "2002", "authors": "Hoshino M, Morita S, Iwashita H, Sagiya Y, Nagi T, Nakanishi A, Ashida Y, Nishimura O, Fujisawa Y, Fujino M", "evidence": [ { "database": "Reactome", "id": "R-HSA-2672351", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2672351" } ], "reference": [ { "type": "PubMed", "id": "11956057", "url": "https://glygen.org/publication/PubMed/11956057" } ] }, { "title": "Amiloride-blockable acid-sensing ion channels are leading acid sensors expressed in human nociceptors.", "journal": "The Journal of clinical investigation", "date": "2002", "authors": "Ugawa S, Ueda T, Ishida Y, Nishigaki M, Shibata Y, Shimada S", "evidence": [ { "database": "Reactome", "id": "R-HSA-2672351", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2672351" } ], "reference": [ { "type": "PubMed", "id": "12393854", "url": "https://glygen.org/publication/PubMed/12393854" } ] }, { "title": "Four additional CLCN5 exons encode a widely expressed novel long CLC-5 isoform but fail to explain Dent's phenotype in patients without mutations in the short variant.", "journal": "Kidney Blood Press. Res.", "date": "2003", "authors": "Ludwig M, Waldegger S, Nuutinen M, Bokenkamp A, Reissinger A, Steckelbroeck S, Utsch B", "evidence": [ { "database": "UniProtKB", "id": "P51795", "url": "https://www.uniprot.org/uniprot/P51795" }, { "database": "RefSeq", "id": "NP_000075", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000075" } ], "reference": [ { "type": "PubMed", "id": "12886045", "url": "https://glygen.org/publication/PubMed/12886045" } ] }, { "title": "Structure-function analysis of the bestrophin family of anion channels.", "journal": "The Journal of biological chemistry", "date": "2003", "authors": "Tsunenari T, Sun H, Williams J, Cahill H, Smallwood P, Yau KW, Nathans J", "evidence": [ { "database": "Reactome", "id": "R-HSA-2672351", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2672351" } ], "reference": [ { "type": "PubMed", "id": "12907679", "url": "https://glygen.org/publication/PubMed/12907679" } ] }, { "title": "The skeletal muscle chloride channel in dominant and recessive human myotonia.", "journal": "Science (New York, N.Y.)", "date": "1992", "authors": "Koch MC, Steinmeyer K, Lorenz C, Ricker K, Wolf F, Otto M, Zoll B, Lehmann-Horn F, Grzeschik KH, Jentsch TJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-2672351", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2672351" } ], "reference": [ { "type": "PubMed", "id": "1379744", "url": "https://glygen.org/publication/PubMed/1379744" } ] }, { "title": "Chloride channel ClCN7 mutations are responsible for severe recessive, dominant, and intermediate osteopetrosis.", "journal": "Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research", "date": "2003", "authors": "Frattini A, Pangrazio A, Susani L, Sobacchi C, Mirolo M, Abinun M, Andolina M, Flanagan A, Horwitz EM, Mihci E, Notarangelo LD, Ramenghi U, Teti A, Van Hove J, Vujic D, Young T, Albertini A, Orchard PJ, Vezzoni P, Villa A", "evidence": [ { "database": "Reactome", "id": "R-HSA-2672351", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2672351" } ], "reference": [ { "type": "PubMed", "id": "14584882", "url": "https://glygen.org/publication/PubMed/14584882" } ] }, { "title": "A new sperm-specific Na+/H+ exchanger required for sperm motility and fertility.", "journal": "Nature cell biology", "date": "2003", "authors": "Wang D, King SM, Quill TA, Doolittle LK, Garbers DL", "evidence": [ { "database": "Reactome", "id": "R-HSA-2672351", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2672351" } ], "reference": [ { "type": "PubMed", "id": "14634667", "url": "https://glygen.org/publication/PubMed/14634667" } ] }, { "title": "A novel human Cl(-) channel family related to Drosophila flightless locus.", "journal": "The Journal of biological chemistry", "date": "2004", "authors": "Suzuki M, Mizuno A", "evidence": [ { "database": "Reactome", "id": "R-HSA-2672351", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2672351" } ], 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