{ "uniprot_canonical_ac": "O43511-1", "uniprot_ac": "O43511", "uniprot_id": "S26A4_HUMAN", "mass": { "chemical_mass": 85723.0, "monoisotopic_mass": 85723.0 }, "refseq": { "ac": "NP_000432", "name": "pendrin", "summary": "Mutations in this gene are associated with Pendred syndrome, the most common form of syndromic deafness, an autosomal-recessive disease. It is highly homologous to the SLC26A3 gene; they have similar genomic structures and this gene is located 3' of the SLC26A3 gene. The encoded protein has homology to sulfate transporters. [provided by RefSeq, Jul 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000432" }, "gene_names": [ { "name": "SLC26A4", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O43511", "id": "O43511" }, { "name": "DFNB4; EVA; PDS; TDH2B", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000432", "id": "NP_000432" }, { "name": "PDS", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O43511", "id": "O43511" }, { "name": "SLC26A4", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000432", "id": "NP_000432" } ], "protein_names": [ { "name": "Pendrin", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O43511" }, { "name": "Sodium-independent chloride/iodide transporter", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O43511" }, { "name": "Solute carrier family 26 member 4", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O43511" }, { "name": "pendrin", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000432", "id": "NP_000432" }, { "name": "sodium-independent chloride/iodide transporter; solute carrier family 26 (anion exchanger), member 4", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000432", "id": "NP_000432" } ], "function": [ { "annotation": "Dispersed DNA variants underlie hearing loss in South Florida's minority population. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_000432", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000432" }, { "database": "PubMed", "id": "37996878", "url": "https://glygen.org/publication/PubMed/37996878" } ] }, { "annotation": "Insight into the Natural History of Pathogenic Variant c.919-2A>G in the SLC26A4 Gene Involved in Hearing Loss: The Evidence for Its Common Origin in Southern Siberia (Russia). Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_000432", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000432" }, { "database": "PubMed", "id": "37107686", "url": "https://glygen.org/publication/PubMed/37107686" } ] }, { "annotation": "Mutation analysis of GJB2, SLC26A4, GJB3 and mtDNA12SrRNA genes in 251 non-syndromic hearing loss patients in Fujian, China.", "evidence": [ { "database": "RefSeq", "id": "NP_000432", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000432" }, { "database": "PubMed", "id": "38029595", "url": "https://glygen.org/publication/PubMed/38029595" } ] }, { "annotation": "Mutations in this gene are associated with Pendred syndrome, the most common form of syndromic deafness, an autosomal-recessive disease. It is highly homologous to the SLC26A3 gene; they have similar genomic structures and this gene is located 3' of the SLC26A3 gene. The encoded protein has homology to sulfate transporters. [provided by RefSeq, Jul 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_000432", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000432" } ] }, { "annotation": "Sodium-independent transporter of chloride and iodide (PubMed:10192399, PubMed:12107249, PubMed:11932316, PubMed:16684826, PubMed:24051746). Mediates electroneutral chloride-bicarbonate, chloride-iodide and chloride-formate exchange with 1:1 stoichiometry (PubMed:10644529, PubMed:15155570, PubMed:35601831, PubMed:24051746). Mediates electroneutral iodide-bicarbonate exchange (By similarity).", "evidence": [ { "database": "UniProtKB", "id": "O43511", "url": "https://www.uniprot.org/uniprot/O43511#function" }, { "database": "PubMed", "id": "11932316", "url": "https://glygen.org/publication/PubMed/11932316" }, { "database": "PubMed", "id": "10192399", "url": "https://glygen.org/publication/PubMed/10192399" }, { "database": "PubMed", "id": "16684826", "url": "https://glygen.org/publication/PubMed/16684826" }, { "database": "PubMed", "id": "24051746", "url": "https://glygen.org/publication/PubMed/24051746" }, { "database": "PubMed", "id": "35601831", "url": "https://glygen.org/publication/PubMed/35601831" }, { "database": "PubMed", "id": "15155570", "url": "https://glygen.org/publication/PubMed/15155570" }, { "database": "PubMed", "id": "12107249", "url": "https://glygen.org/publication/PubMed/12107249" }, { "database": "UniProtKB", "id": "Q9R155", "url": "https://www.uniprot.org/uniprot/Q9R155#function" }, { "database": "PubMed", "id": "10644529", "url": "https://glygen.org/publication/PubMed/10644529" } ] }, { "annotation": "The correlation between deafness progression and SLC26A4 mutations in enlarged vestibular aqueduct patients.", "evidence": [ { "database": "RefSeq", "id": "NP_000432", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000432" }, { "database": "PubMed", "id": "37477685", "url": "https://glygen.org/publication/PubMed/37477685" } ] } ], "disease": [ { "disease_id": "DOID:0060744", "recommended_name": { "id": "DOID:0060744", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060744", "name": "Pendred Syndrome", "description": "A syndrome characterized by bilateral prelingual sensorineural hearing loss and euthyroid goiter and that has_material_basis_in homozygous or compound heterozygous mutation in the SLC26A4 gene on chromosome 7q." }, "synonyms": [ { "id": "DOID:0060744", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060744", "name": "TDH2B", "description": "" }, { "id": "DOID:0060744", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060744", "name": "deafness with goiter", "description": "" }, { "id": "DOID:0060744", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060744", "name": "genetic defect in thyroid hormonogenesis 2B", "description": "" }, { "id": "DOID:0060744", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060744", "name": "goiter-deafness syndrome", "description": "" }, { "id": "DOID:0060744", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060744", "name": "thyroid dyshormonogenesis 2B", "description": "" }, { "id": "DOID:0060744", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060744", "name": "congenital hypothyroidism due to dyshormonogenesis 2B", "description": "" }, { "id": "MONDO:0010134", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010134", "name": "Pendred syndrome", "description": "Pendred syndrome (PDS) is a clinically variable genetic disorder characterized by bilateral sensorineural hearing loss and euthyroid goiter." }, { "id": "MONDO:0010134", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010134", "name": "Pendred syndrome", "description": "" }, { "id": "MONDO:0010134", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010134", "name": "TDH2B", "description": "" }, { "id": "MONDO:0010134", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010134", "name": "congenital hypothyroidism due to dyshormonogenesis 2B", "description": "" }, { "id": "MONDO:0010134", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010134", "name": "deafness with goiter", "description": "" }, { "id": "MONDO:0010134", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010134", "name": "deafness with goitre", "description": "" }, { "id": "MONDO:0010134", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010134", "name": "genetic defect in thyroid hormonogenesis 2B", "description": "" }, { "id": "MONDO:0010134", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010134", "name": "goiter-deafness syndrome", "description": "" }, { "id": "MONDO:0010134", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010134", "name": "hypothyroidism, congenital, due to dyshormonogenesis, 2B", "description": "" }, { "id": "MONDO:0010134", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010134", "name": "thyroid dyshormonogenesis 2B", "description": "" }, { "id": "MONDO:0010134", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010134", "name": "thyroid hormonogenesis, genetic defect in, 2B", "description": "" }, { "id": "MONDO:0010134", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010134", "name": "PDS", "description": "" }, { "id": "MONDO:0010134", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010134", "name": "autosomal recessive sensorineural hearing impairment and goiter", "description": "" }, { "id": "MONDO:0010134", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010134", "name": "autosomal recessive sensorineural hearing impairment and goitre", "description": "" }, { "id": "MIM:274600", "resource": "MIM", "url": "https://www.omim.org/entry/274600", "name": "Pendred syndrome", "description": "Pendred syndrome" } ], "evidence": [ { "id": "274600", "database": "MIM", "url": "https://www.omim.org/entry/274600" } ] }, { "disease_id": "DOID:0110498", "recommended_name": { "id": "DOID:0110498", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110498", "name": "autosomal recessive nonsyndromic deafness 4", "description": "An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the SLC26A4 gene on chromosome 7q22." }, "synonyms": [ { "id": "DOID:0110498", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110498", "name": "DFNB4", "description": "" }, { "id": "DOID:0110498", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110498", "name": "autosomal recessive deafness 4 with enlarged vestibular aqueduct", "description": "" }, { "id": "MONDO:0010933", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010933", "name": "autosomal recessive nonsyndromic hearing loss 4", "description": "An autosomal recessive nonsyndromic deafness that has material basis in mutation in the SLC26A4 gene on chromosome 7q22. Mutation in the FOXI1 gene has been found to be a rare cause of EVA. EVA may also be rarely caused by digenic inheritance of heterozygous mutations in the SLC26A4 and FOXI1 genes, or in the SLC26A4 and KCNJ10 genes." }, { "id": "MONDO:0010933", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010933", "name": "enlarged vestibular aqueduct", "description": "" }, { "id": "MONDO:0010933", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010933", "name": "enlarged vestibular aqueduct, digenic", "description": "" }, { "id": "MONDO:0010933", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010933", "name": "DFNB4", "description": "" }, { "id": "MONDO:0010933", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010933", "name": "autosomal recessive deafness 4 with enlarged vestibular aqueduct", "description": "" }, { "id": "MONDO:0010933", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010933", "name": "autosomal recessive nonsyndromic deafness 4", "description": "" }, { "id": "MONDO:0010933", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010933", "name": "autosomal recessive nonsyndromic deafness type 4", "description": "" }, { "id": "MONDO:0010933", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010933", "name": "deafness, autosomal recessive 4, with enlarged vestibular aqueduct", "description": "" }, { "id": "MONDO:0010933", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010933", "name": "neurosensory nonsyndromic recessive deafness 4", "description": "" }, { "id": "MONDO:0010933", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010933", "name": "dilated vestibular aqueduct", "description": "" }, { "id": "MIM:600791", "resource": "MIM", "url": "https://www.omim.org/entry/600791", "name": "Deafness, autosomal recessive, 4", "description": "Deafness, autosomal recessive, 4" } ], "evidence": [ { "id": "600791", "database": "MIM", "url": "https://www.omim.org/entry/600791" } ] } ], "snv": [], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "70.46", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000091137", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000091137" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "42.57", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000091137", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000091137" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "48.45", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000091137", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000091137" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "49.96", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000091137", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000091137" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "65.51", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000091137", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000091137" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "62.63", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000091137", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000091137" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "47.76", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000091137", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000091137" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "49.14", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000091137", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000091137" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "97.46", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000091137", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000091137" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "47.6", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000091137", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000091137" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "42.97", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000091137", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000091137" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "67.19", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000091137", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000091137" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "56.62", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000091137", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000091137" } ] } ], "expression_disease": [ { "significant": "No", "trend": "down", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "O43511", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43511" } ], "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, on chromosome 7", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": "MONDO:0011270", "resource": "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", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "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, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, hereditary", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "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": "No", "trend": "down", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "O43511", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43511" } ], "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": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "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", 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that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", 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"id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of 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"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": "O43511", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43511" } ], "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", 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43511" } ], "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": "No", "trend": "up", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { 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"name": "Colorectal cancer", "description": "Colorectal cancer" } ] } ] } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O43511", "url": "https://www.uniprot.org/uniprot/O43511" } ], "common_name": "Human" } ], "gene": [ { "name": "SLC26A4", "url": "https://www.uniprot.org/uniprot/O43511", "locus": { "chromosome": "7", "start_pos": 107717809, "end_pos": 107660828, "strand": "-", "evidence": [ { "database": "Ensembl Gene", "id": "ENSG00000091137", "url": "https://www.ensembl.org/id/ENSG00000091137" } ] } } ], "crossref": [ { "id": "ENSG00000091137", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000091137", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "cd07042", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd07042", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "CHEMBL4523138", "url": "https://www.ebi.ac.uk/chembldb/target/inspect/CHEMBL4523138", "database": 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"https://www.ebi.ac.uk/interpro/entry/IPR018045", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR036513", "url": "https://www.ebi.ac.uk/interpro/entry/IPR036513", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "hsa:5172", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:5172", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "274600", "url": "http://www.omim.org/entry/274600", "database": "MIM", "categories": [ "Other" ] }, { "id": "600791", "url": "http://www.omim.org/entry/600791", "database": "MIM", "categories": [ "Other" ] }, { "id": "605646", "url": "http://www.omim.org/entry/605646", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_O43511", "url": "https://www.nextprot.org/entry/NX_O43511", "database": "neXtProt", "categories": [ "Protein", "Organism-specific" ] }, { "id": "O43511", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O43511", "database": "O-GlcNAc Database", "categories": [ "Glycoproteomics" ] }, { "id": "WKQNKTD", "url": "https://omabrowser.org/oma/group/WKQNKTD/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "1067648at2759", "url": "http://www.orthodb.org/?query=1067648at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR11814", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11814", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR11814:SF33", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11814:SF33", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PF00916", "url": "http://pfam.xfam.org/family/PF00916", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF01740", "url": "http://pfam.xfam.org/family/PF01740", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "O43511", "url": "https://pharos.nih.gov/targets/O43511", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_O43511", "url": "http://purl.obolibrary.org/obo/PR_O43511", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-427601", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-427601", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-5619046", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5619046", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_000432", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000432", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "29823", "url": "https://www.rhea-db.org/rhea/29823", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "66324", "url": "https://www.rhea-db.org/rhea/66324", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "72267", "url": "https://www.rhea-db.org/rhea/72267", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "72363", "url": "https://www.rhea-db.org/rhea/72363", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "72375", "url": "https://www.rhea-db.org/rhea/72375", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "72379", "url": "https://www.rhea-db.org/rhea/72379", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "A0A2R8Y4W7", "url": "https://www.uniprot.org/uniprot/A0A2R8Y4W7", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A2R8Y4W7-1", "url": "https://www.uniprot.org/uniprot/A0A2R8Y4W7-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "C9JQG1", "url": "https://www.uniprot.org/uniprot/C9JQG1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "C9JQG1-1", "url": "https://www.uniprot.org/uniprot/C9JQG1-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O43511", "url": "https://www.uniprot.org/uniprot/O43511", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O43511-1", "url": "https://www.uniprot.org/uniprot/O43511-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O43511-2", "url": "https://www.uniprot.org/uniprot/O43511-2", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MAAPGGRSEPPQLPEYSCSYMVSRPVYSELAFQQQHERRLQERKTLRESLAKCCSCSRKRAFGVLKTLVPILEWLPKYRVKEWLLSDVISGVSTGLVATLQGMAYALLAAVPVGYGLYSAFFPILTYFIFGTSRHISVGPFPVVSLMVGSVVLSMAPDEHFLVSSSNGTVLNTTMIDTAARDTARVLIASALTLLVGIIQLIFGGLQIGFIVRYLADPLVGGFTTAAAFQVLVSQLKIVLNVSTKNYNGVLSIIYTLVEIFQNIGDTNLADFTAGLLTIVVCMAVKELNDRFRHKIPVPIPIEVIVTIIATAISYGANLEKNYNAGIVKSIPRGFLPPELPPVSLFSEMLAASFSIAVVAYAIAVSVGKVYATKYDYTIDGNQEFIAFGISNIFSGFFSCFVATTALSRTAVQESTGGKTQVAGIISAAIVMIAILALGKLLEPLQKSVLAAVVIANLKGMFMQLCDIPRLWRQNKIDAVIWVFTCIVSIILGLDLGLLAGLIFGLLTVVLRVQFPSWNGLGSIPSTDIYKSTKNYKNIEEPQGVKILRFSSPIFYGNVDGFKKCIKSTVGFDAIRVYNKRLKALRKIQKLIKSGQLRATKNGIISDAVSTNNAFEPDEDIEDLEELDIPTKEIEIQVDWNSELPVKVNVPKVPIHSLVLDCGAISFLDVVGVRSLRVIVKEFQRIDVNVYFASLQDYVIEKLEQCGFFDDNIRKDTFFLTVHDAILYLQNQVKSQEGQGSILETITLIQDCKDTLELIETELTEEELDVQDEAMRTLAS", "length": 780, "header": "sp|O43511-1|S26A4_HUMAN Isoform 1 of Pendrin OS=Homo sapiens OX=9606 GN=SLC26A4 PE=1 SV=1 CANONICAL=O43511-1" }, "isoforms": [ { "isoform_ac": "A0A2R8Y4W7-1", "url": "", "sequence": { "sequence": "XVMIAILALGKLLEPLQKSVLAAVVIANLKGMFMQLCDIPRLWRQNKIDAVIWVFTCIVSIILGLDLGLLAGLIFGLLTVVLRVQFPSWNGLGSIPSTDIYKSTKNYKNIEEPQGVKILRFSSPIFYGNVDGFKKCIKSTVGFDAIRVYNKRLKALRKIQKLIKSGQLRATKNGIISDAVSTNNAFEPDEDIEDLEELDIPTKEIEIQVDWNSELPVKVNVPKVPIHSLVLDCGAISFLDVVGVRSLRVIM", "length": 251, "header": "tr|A0A2R8Y4W7-1|S26A4_HUMAN Computationally mapped isoform of Pendrin OS=Homo sapiens OX=9606 GN=SLC26A4 PE=1 SV=1 CANONICAL=O43511-1" }, "locus": { "chromosome": "7", "start_pos": 107710061, "end_pos": 107694429, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000644846.1", "url": "https://www.ensembl.org/id/ENST00000644846.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000494344.1", "url": "https://www.ensembl.org/id/ENSP00000494344.1" } ] } }, { "isoform_ac": "C9JQG1-1", "url": "", "sequence": { "sequence": "MAAPGGRSEPPQLPEYSCSYMVSRPVYSELAFQQQHERRLQERKTLRESLAKCCSCSRKRAFGVLKTLVPILEWLPKYRVKEWLLSDVISGVSTGLVATLQGMAYALLAAVPVGYGLYSAFFPILTYFIFG", "length": 131, "header": "tr|C9JQG1-1|S26A4_HUMAN Computationally mapped isoform of Pendrin OS=Homo sapiens OX=9606 GN=SLC26A4 PE=1 SV=1 CANONICAL=O43511-1" }, "locus": { "chromosome": "7", "start_pos": 107672226, "end_pos": 107661642, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000440056.1", "url": "https://www.ensembl.org/id/ENST00000440056.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000394760.1", "url": "https://www.ensembl.org/id/ENSP00000394760.1" } ] } }, { "isoform_ac": "O43511-1", "url": "", "sequence": { "sequence": "MAAPGGRSEPPQLPEYSCSYMVSRPVYSELAFQQQHERRLQERKTLRESLAKCCSCSRKRAFGVLKTLVPILEWLPKYRVKEWLLSDVISGVSTGLVATLQGMAYALLAAVPVGYGLYSAFFPILTYFIFGTSRHISVGPFPVVSLMVGSVVLSMAPDEHFLVSSSNGTVLNTTMIDTAARDTARVLIASALTLLVGIIQLIFGGLQIGFIVRYLADPLVGGFTTAAAFQVLVSQLKIVLNVSTKNYNGVLSIIYTLVEIFQNIGDTNLADFTAGLLTIVVCMAVKELNDRFRHKIPVPIPIEVIVTIIATAISYGANLEKNYNAGIVKSIPRGFLPPELPPVSLFSEMLAASFSIAVVAYAIAVSVGKVYATKYDYTIDGNQEFIAFGISNIFSGFFSCFVATTALSRTAVQESTGGKTQVAGIISAAIVMIAILALGKLLEPLQKSVLAAVVIANLKGMFMQLCDIPRLWRQNKIDAVIWVFTCIVSIILGLDLGLLAGLIFGLLTVVLRVQFPSWNGLGSIPSTDIYKSTKNYKNIEEPQGVKILRFSSPIFYGNVDGFKKCIKSTVGFDAIRVYNKRLKALRKIQKLIKSGQLRATKNGIISDAVSTNNAFEPDEDIEDLEELDIPTKEIEIQVDWNSELPVKVNVPKVPIHSLVLDCGAISFLDVVGVRSLRVIVKEFQRIDVNVYFASLQDYVIEKLEQCGFFDDNIRKDTFFLTVHDAILYLQNQVKSQEGQGSILETITLIQDCKDTLELIETELTEEELDVQDEAMRTLAS", "length": 780, "header": "sp|O43511-1|S26A4_HUMAN Isoform 1 of Pendrin OS=Homo sapiens OX=9606 GN=SLC26A4 PE=1 SV=1 CANONICAL=O43511-1" }, "locus": { "chromosome": "7", "start_pos": 107715443, "end_pos": 107661642, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000644269.2", "url": "https://www.ensembl.org/id/ENST00000644269.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000494017.1", "url": "https://www.ensembl.org/id/ENSP00000494017.1" } ] } }, { "isoform_ac": "O43511-2", "url": "", "sequence": { "sequence": "MIAILALGKLLEPLQKSVLAAVVIANLKGMFMQLCDIPRLWRQNKIDAVIWVFTCIVSIILGLDLGLLAGLIFGLLTVVLRVQFPSWNGLGSIPSTDIYKSTKNYKNIEEPQGVKILRFSSPIFYGNVDGFKKCIKSTVGFDAIRVYNKRLKALRKIQKLIKSGQLRATKNGIISDAVSTNNAFEPDEDIEDLEELDIPTKEIEIQVDWNSELPVKVNVPKVPIHSLVLDCGAISFLDVVGVRSLRVIVKEFQRIDVNVYFASLQDYVIEKLEQCGFFDDNIRKDTFFLTVHDAILYLQNQVKSQEGQGSILETITLIQDCKDTLELIETELTEEELDVQDEAMRTLAS", "length": 349, "header": "sp|O43511-2|S26A4_HUMAN Isoform 2 of Pendrin OS=Homo sapiens OX=9606 GN=SLC26A4 PE=1 SV=1 CANONICAL=O43511-1" }, "locus": {} } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "", "relation": "attached", "comment": "O-GlcNAcylation", "evidence": [ { "id": "O43511", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O43511" }, { "id": "34019948", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34019948" } ] } ], "phosphorylation": [], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "Non-syndromic hearing loss associated with enlarged vestibular aqueduct is caused by PDS mutations.", "journal": "Human genetics", "date": "1999", "authors": "Usami S, Abe S, Weston MD, Shinkawa H, Van Camp G, Kimberling WJ", "evidence": [ { "database": "UniProtKB", "id": "O43511", "url": "https://www.uniprot.org/uniprot/O43511" }, { "database": "Reactome", "id": "R-HSA-5619046", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5619046" } ], "reference": [ { "type": "PubMed", "id": "10190331", "url": "https://glygen.org/publication/PubMed/10190331" } ] }, { "title": "The Pendred syndrome gene encodes a chloride-iodide transport protein.", "journal": "Nature genetics", "date": "1999-04", "authors": "Scott D A, Wang R, Kreman T M, Sheffield V C, Karniski L P", "evidence": [ { "database": "UniProtKB", "id": "O43511", "url": "https://www.uniprot.org/uniprot/O43511" } ], "reference": [ { "type": "PubMed", "id": "10192399", "url": "https://glygen.org/publication/PubMed/10192399" } ] }, { "title": "Pendred syndrome: phenotypic variability in two families carrying the same PDS missense mutation.", "journal": "American journal of medical genetics", "date": "2000", "authors": "Masmoudi S, Charfedine I, Hmani M, Grati M, Ghorbel AM, Elgaied-Boulila A, Drira M, Hardelin JP, Ayadi H", "evidence": [ { "database": "UniProtKB", "id": "O43511", "url": "https://www.uniprot.org/uniprot/O43511" } ], "reference": [ { "type": "PubMed", "id": "10602116", "url": "https://glygen.org/publication/PubMed/10602116" } ] }, { "title": "Human pendrin expressed in Xenopus laevis oocytes mediates chloride/formate exchange.", "journal": "American journal of physiology. Cell physiology", "date": "2000-01", "authors": "Scott D A, Karniski L P", "evidence": [ { "database": "UniProtKB", "id": "O43511", "url": "https://www.uniprot.org/uniprot/O43511" } ], "reference": [ { "type": "PubMed", "id": "10644529", "url": "https://glygen.org/publication/PubMed/10644529" } ] }, { "title": "Enlarged vestibular aqueduct: a radiological marker of pendred syndrome, and mutation of the PDS gene.", "journal": "QJM : monthly journal of the Association of Physicians", "date": "2000", "authors": "Reardon W, OMahoney CF, Trembath R, Jan H, Phelps PD", "evidence": [ { "database": "UniProtKB", "id": "O43511", "url": "https://www.uniprot.org/uniprot/O43511" } ], "reference": [ { "type": "PubMed", "id": "10700480", "url": "https://glygen.org/publication/PubMed/10700480" } ] }, { "title": "A novel mutation in the pendrin gene associated with Pendred's syndrome.", "journal": "Clinical endocrinology", "date": "2000", "authors": "Bogazzi F, Raggi F, Ultimieri F, Campomori A, Cosci C, Berrettini S, Neri E, La Rocca R, Ronca G, Martino E, Bartalena L", "evidence": [ { "database": "UniProtKB", "id": "O43511", "url": "https://www.uniprot.org/uniprot/O43511" } ], "reference": [ { "type": "PubMed", "id": "10718825", "url": "https://glygen.org/publication/PubMed/10718825" } ] }, { "title": "Deafness heterogeneity in a Druze isolate from the Middle East: novel OTOF and PDS mutations, low prevalence of GJB2 35delG mutation and indication for a new DFNB locus.", "journal": "European journal of human genetics : EJHG", "date": "2000", "authors": "Adato A, Raskin L, Petit C, Bonne-Tamir B", "evidence": [ { "database": "UniProtKB", "id": "O43511", "url": "https://www.uniprot.org/uniprot/O43511" } ], "reference": [ { "type": "PubMed", "id": "10878664", "url": "https://glygen.org/publication/PubMed/10878664" } ] }, { "title": "Cloning and characterization of SLC26A6, a novel member of the solute carrier 26 gene family.", "journal": "Genomics", "date": "2001", "authors": "Waldegger S, Moschen I, Ramirez A, Smith RJ, Ayadi H, Lang F, Kubisch C", "evidence": [ { "database": "Reactome", "id": "R-HSA-427601", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-427601" } ], "reference": [ { "type": "PubMed", "id": "11247665", "url": "https://glygen.org/publication/PubMed/11247665" } ] }, { "title": "Pendrin, encoded by the Pendred syndrome gene, resides in the apical region of renal intercalated cells and mediates bicarbonate secretion.", "journal": "Proc. Natl. Acad. Sci. U.S.A.", "date": "2001", "authors": "Royaux I E, Wall S M, Karniski L P, Everett L A, Suzuki K, Knepper M A, Green E D", "evidence": [ { "database": "UniProtKB", "id": "O43511", "url": "https://www.uniprot.org/uniprot/O43511" } ], "reference": [ { "type": "PubMed", "id": "11274445", "url": "https://glygen.org/publication/PubMed/11274445" } ] }, { "title": "Pendred syndrome, DFNB4, and PDS/SLC26A4 identification of eight novel mutations and possible genotype-phenotype correlations.", "journal": "Human mutation", "date": "2001", "authors": "Campbell C, Cucci RA, Prasad S, Green GE, Edeal JB, Galer CE, Karniski LP, Sheffield VC, Smith RJ", "evidence": [ { "database": "UniProtKB", "id": "O43511", "url": "https://www.uniprot.org/uniprot/O43511" } ], "reference": [ { "type": "PubMed", "id": "11317356", "url": "https://glygen.org/publication/PubMed/11317356" } ] }, { "title": "Clinical and molecular analysis of three Mexican families with Pendred's syndrome.", "journal": "European journal of endocrinology", "date": "2001", "authors": "Gonzalez Trevino O, Karamanoglu Arseven O, Ceballos CJ, Vives VI, Ramirez RC, Gomez VV, Medeiros-Neto G, Kopp P", "evidence": [ { "database": "UniProtKB", "id": "O43511", "url": "https://www.uniprot.org/uniprot/O43511" } ], "reference": [ { "type": "PubMed", "id": "11375792", "url": "https://glygen.org/publication/PubMed/11375792" } ] }, { "title": "Identification of five new mutations of PDS/SLC26A4 in Mediterranean families with hearing impairment.", "journal": "Human mutation", "date": "2001", "authors": "Lopez-Bigas N, Melchionda S, de Cid R, Grifa A, Zelante L, Govea N, Arbones ML, Gasparini P, Estivill X", "evidence": [ { "database": "UniProtKB", "id": "O43511", "url": "https://www.uniprot.org/uniprot/O43511" } ], "reference": [ { "type": "PubMed", "id": "11748854", "url": "https://glygen.org/publication/PubMed/11748854" } ] }, { "title": "Molecular cloning of SLC26A7, a novel member of the SLC26 sulfate/anion transporter family, from high endothelial venules and kidney.", "journal": "Genomics", "date": "2002", "authors": "Vincourt JB, Jullien D, Kossida S, Amalric F, Girard JP", "evidence": [ { "database": "Reactome", "id": "R-HSA-427601", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-427601" } ], "reference": [ { "type": "PubMed", "id": "11829495", "url": "https://glygen.org/publication/PubMed/11829495" } ] }, { "title": "Functional characterization of three novel tissue-specific anion exchangers SLC26A7, -A8, and -A9.", "journal": "The Journal of biological chemistry", "date": "2002", "authors": "Lohi H, Kujala M, Makela S, Lehtonen E, Kestila M, Saarialho-Kere U, Markovich D, Kere J", "evidence": [ { "database": "Reactome", "id": "R-HSA-427601", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-427601" } ], "reference": [ { "type": "PubMed", "id": "11834742", "url": "https://glygen.org/publication/PubMed/11834742" } ] }, { "title": "Differential diagnosis between Pendred and pseudo-Pendred 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"Nature genetics", "date": "1996", "authors": "Hoglund P, Haila S, Socha J, Tomaszewski L, Saarialho-Kere U, Karjalainen-Lindsberg ML, Airola K, Holmberg C, de la Chapelle A, Kere J", "evidence": [ { "database": "Reactome", "id": "R-HSA-427601", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-427601" } ], "reference": [ { "type": "PubMed", "id": "8896562", "url": "https://glygen.org/publication/PubMed/8896562" } ] }, { "title": "Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS).", "journal": "Nature genetics", "date": "1997", "authors": "Everett LA, Glaser B, Beck JC, Idol JR, Buchs A, Heyman M, Adawi F, Hazani E, Nassir E, Baxevanis AD, Sheffield VC, Green ED", "evidence": [ { "database": "UniProtKB", "id": "O43511", "url": "https://www.uniprot.org/uniprot/O43511" }, { "database": "Reactome", "id": "R-HSA-5619046", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5619046" } ], "reference": [ { "type": "PubMed", "id": "9398842", "url": 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