{ "uniprot_canonical_ac": "O14649-1", "uniprot_ac": "O14649", "uniprot_id": "KCNK3_HUMAN", "mass": { "chemical_mass": 43518.0, "monoisotopic_mass": 43518.0 }, "refseq": { "ac": "NP_002237", "name": "potassium channel subfamily K member 3", "summary": "This gene encodes a member of the superfamily of potassium channel proteins that contain two pore-forming P domains. The encoded protein is an outwardly rectifying channel that is sensitive to changes in extracellular pH and is inhibited by extracellular acidification. Also referred to as an acid-sensitive potassium channel, it is activated by the anesthetics halothane and isoflurane. Although three transcripts are detected in northern blots, there is currently no sequence available to confirm transcript variants for this gene. [provided by RefSeq, Aug 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002237" }, "gene_names": [ { "name": "KCNK3", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O14649", "id": "O14649" }, { "name": "K2p3.1; OAT1; PPH4; TASK; TASK-1; TASK1; TBAK1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002237", "id": "NP_002237" }, { "name": "KCNK3", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002237", "id": "NP_002237" }, { "name": "TASK1", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O14649", "id": "O14649" }, { "name": "TASK", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O14649", "id": "O14649" } ], "protein_names": [ { "name": "Potassium channel subfamily K member 3", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O14649" }, { "name": "Acid-sensitive potassium channel protein TASK-1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O14649" }, { "name": "TWIK-related acid-sensitive K(+) channel 1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O14649" }, { "name": "Two pore K(+) channel KT3.1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O14649" }, { "name": "Two pore potassium channel KT3.1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O14649" }, { "name": "potassium channel subfamily K member 3", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002237", "id": "NP_002237" }, { "name": "potassium inwardly-rectifying channel, subfamily K, member 3; TWIK-related acid-sensitive K+ 1; acid-sensitive potassium channel protein TASK; two P domain potassium channel; cardiac potassium channel; TWIK-related acid-sensitive K+ channel; potassium channel, two pore domain subfamily K, member 3; two pore K(+) channel KT3.1; two pore potassium channel KT3.1; TWIK-related acid-sensitive K(+) channel 1; acid-sensitive potassium channel protein TASK-1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002237", "id": "NP_002237" } ], "function": [ { "annotation": "Activation of neurokinin-III receptors modulates human atrial TASK-1 currents.", "evidence": [ { "database": "RefSeq", "id": "NP_002237", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002237" }, { "database": "PubMed", "id": "37793594", "url": "https://glygen.org/publication/PubMed/37793594" } ] }, { "annotation": "Crosstalk between BMP signaling and KCNK3 in phenotypic switching of pulmonary vascular smooth muscle cells.", "evidence": [ { "database": "RefSeq", "id": "NP_002237", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002237" }, { "database": "PubMed", "id": "36016502", "url": "https://glygen.org/publication/PubMed/36016502" } ] }, { "annotation": "Expression of Proton-Sensitive GPR31, GPR151, TASK1 and TASK3 in Common Skin Tumors. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_002237", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002237" }, { "database": "PubMed", "id": "35011589", "url": "https://glygen.org/publication/PubMed/35011589" } ] }, { "annotation": "Gain-of-function mutations in KCNK3 cause a developmental disorder with sleep apnea.", "evidence": [ { "database": "RefSeq", "id": "NP_002237", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002237" }, { "database": "PubMed", "id": "36195757", "url": "https://glygen.org/publication/PubMed/36195757" } ] }, { "annotation": "MicroRNAs Regulate TASK-1 and Are Linked to Myocardial Dilatation in Atrial Fibrillation.", "evidence": [ { "database": "RefSeq", "id": "NP_002237", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002237" }, { "database": "PubMed", "id": "35301863", "url": "https://glygen.org/publication/PubMed/35301863" } ] }, { "annotation": "This gene encodes a member of the superfamily of potassium channel proteins that contain two pore-forming P domains. The encoded protein is an outwardly rectifying channel that is sensitive to changes in extracellular pH and is inhibited by extracellular acidification. Also referred to as an acid-sensitive potassium channel, it is activated by the anesthetics halothane and isoflurane. Although three transcripts are detected in northern blots, there is currently no sequence available to confirm transcript variants for this gene. [provided by RefSeq, Aug 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_002237", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002237" } ] }, { "annotation": "pH-dependent, voltage-insensitive, background potassium channel protein. Rectification direction results from potassium ion concentration on either side of the membrane. Acts as an outward rectifier when external potassium concentration is low. When external potassium concentration is high, current is inward.", "evidence": [ { "database": "UniProtKB", "id": "O14649", "url": "https://www.uniprot.org/uniprot/O14649#function" }, { "database": "PubMed", "id": "9312005", "url": "https://glygen.org/publication/PubMed/9312005" }, { "database": "PubMed", "id": "23169818", "url": "https://glygen.org/publication/PubMed/23169818" } ] } ], "disease": [ { "disease_id": "DOID:14557", "recommended_name": { "id": "DOID:14557", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14557", "name": "primary pulmonary hypertension", "description": "A chronic pulmonary heart disease characterized by an increase of blood pressure in the pulmonary artery, pulmonary vein, or pulmonary capillaries, among others, has symptoms shortness of breath, dizziness, fainting, leg swelling." }, "synonyms": [ { "id": "DOID:14557", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14557", "name": "Idiopathic pulmonary arterial hypertension", "description": "" }, { "id": "MONDO:0009935", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009935", "name": "pulmonary hypertension, primary, autosomal recessive", "description": "" }, { "id": "MONDO:0009935", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009935", "name": "pulmonary hypertension, primary, autosomal recessive", "description": "" }, { "id": "MONDO:0014136", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014136", "name": "pulmonary hypertension, primary, 4", "description": "Any primary pulmonary hypertension in which the cause of the disease is a mutation in the KCNK3 gene." }, { "id": "MONDO:0014136", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014136", "name": "KCNK3 primary pulmonary hypertension", "description": "" }, { "id": "MONDO:0014136", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014136", "name": "primary pulmonary hypertension caused by mutation in KCNK3", "description": "" }, { "id": "MONDO:0014136", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014136", "name": "pulmonary hypertension, primary, 4", "description": "" }, { "id": "MONDO:0014136", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014136", "name": "pulmonary hypertension, primary, type 4", "description": "" }, { "id": "MONDO:0014136", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014136", "name": "PPH4", "description": "" }, { "id": "MONDO:0014135", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014135", "name": "pulmonary hypertension, primary, 3", "description": "Any primary pulmonary hypertension in which the cause of the disease is a mutation in the CAV1 gene." }, { "id": "MONDO:0014135", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014135", "name": "CAV1 primary pulmonary hypertension", "description": "" }, { "id": "MONDO:0014135", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014135", "name": "primary pulmonary hypertension caused by mutation in CAV1", "description": "" }, { "id": "MONDO:0014135", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014135", "name": "pulmonary hypertension, primary, 3", "description": "" }, { "id": "MONDO:0014135", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014135", "name": "pulmonary hypertension, primary, type 3", "description": "" }, { "id": "MONDO:0014135", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014135", "name": "PPH3", "description": "" }, { "id": "MONDO:0014134", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014134", "name": "pulmonary hypertension, primary, 2", "description": "Any primary pulmonary hypertension in which the cause of the disease is a mutation in the SMAD9 gene." }, { "id": "MONDO:0014134", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014134", "name": "SMAD9 primary pulmonary hypertension", "description": "" }, { "id": "MONDO:0014134", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014134", "name": "primary pulmonary hypertension caused by mutation in SMAD9", "description": "" }, { "id": "MONDO:0014134", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014134", "name": "pulmonary hypertension, primary, 2", "description": "" }, { "id": "MONDO:0014134", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014134", "name": "pulmonary hypertension, primary, type 2", "description": "" }, { "id": "MONDO:0014134", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014134", "name": "PPH2", "description": "" }, { "id": "MONDO:0024533", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024533", "name": "pulmonary hypertension, primary, 1", "description": "Any primary pulmonary hypertension in which the cause of the disease is a mutation in the BMPR2 gene." }, { "id": "MONDO:0024533", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024533", "name": "BMPR2 primary pulmonary hypertension", "description": "" }, { "id": "MONDO:0024533", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024533", "name": "primary pulmonary hypertension caused by mutation in BMPR2", "description": "" }, { "id": "MONDO:0024533", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024533", "name": "pulmonary hypertension, familial primary, 1, with or without HHT", "description": "" }, { "id": "MONDO:0024533", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024533", "name": "pulmonary hypertension, primary, 1", "description": "" }, { "id": "MONDO:0024533", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024533", "name": "pulmonary hypertension, primary, fenfluramine or dexfenfluramine-associated", "description": "" }, { "id": "MONDO:0024533", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024533", "name": "PHT", "description": "" }, { "id": "MONDO:0024533", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024533", "name": "PPH1", "description": "" }, { "id": "MONDO:0024533", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024533", "name": "Pph1 with Hht", "description": "" }, { "id": "MONDO:0024533", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024533", "name": "pulmonary arterial hypertension", "description": "" }, { "id": "MONDO:0024533", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024533", "name": "pulmonary hypertension, primary, 1, with hereditary hemorrhagic telangiectasia", "description": "" }, { "id": "MONDO:0024533", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024533", "name": "pulmonary hypertension, primary, Dexfenfluramine-associated", "description": "" }, { "id": "MONDO:0024533", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024533", "name": "pulmonary hypertension, primary, Fenfluramine-associated", "description": "" }, { "id": "MIM:265400", "resource": "MIM", "url": "https://www.omim.org/entry/265400", "name": "Pulmonary hypertension, primary, 5", "description": "Pulmonary hypertension, primary, 5" }, { "id": "MIM:615344", "resource": "MIM", "url": "https://www.omim.org/entry/615344", "name": "Pulmonary hypertension, primary, 4", "description": "Pulmonary hypertension, primary, 4" }, { "id": "MIM:615343", "resource": "MIM", "url": "https://www.omim.org/entry/615343", "name": "Pulmonary hypertension, primary, 3", "description": "Pulmonary hypertension, primary, 3" }, { "id": "MIM:615342", "resource": "MIM", "url": "https://www.omim.org/entry/615342", "name": "Pulmonary hypertension, primary, 2", "description": "Pulmonary hypertension, primary, 2" }, { "id": "MIM:178600", "resource": "MIM", "url": "https://www.omim.org/entry/178600", "name": "Pulmonary hypertension, primary, 1", "description": "Pulmonary hypertension, primary, 1" } ], "evidence": [ { "id": "615344", "database": "MIM", "url": "https://www.omim.org/entry/615344" } ] } ], "snv": [ { "evidence": [ { "id": "rs1411865818", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1411865818" }, { "id": "rs1411865818", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1411865818" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 15, "end_pos": 15, "sequence_org": "T", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (TFT->NFT).", "chr_id": "2", "chr_pos": "26692919", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T15", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "O14649", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O14649" }, { "id": "rs1211206106", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1211206106" }, { "id": "rs1211206106", "database": "NCI-TCGA", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1211206106" }, { "id": "rs1211206106", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1211206106#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 380, "end_pos": 380, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "N", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (SLS->NLS).", "chr_id": "2", "chr_pos": "26728522", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "S380", "disease": [ { "disease_id": "DOID:1115", "recommended_name": { "id": "DOID:1115", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1115", "name": "sarcoma", "description": "A cell type cancer that has_material_basis_in abnormally proliferating cells derives from embryonic mesoderm." }, "synonyms": [ { "id": "DOID:1115", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1115", "name": "connective and soft tissue neoplasm", "description": "" }, { "id": "DOID:1115", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1115", "name": "tumor of soft tissue and skeleton", "description": "" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease", "ebi", "germline" ] } ], "mutagenesis": [ { "start_pos": 98, "end_pos": 98, "sequence_org": "H", "sequence_mut": "N", "comment": "Greatly reduces pH sensitivity.", "evidence": [ { "database": "UniProtKB", "id": "O14649", "url": "https://www.uniprot.org/uniprot/O14649" }, { "database": "PubMed", "id": "11680614", "url": "https://glygen.org/publication/PubMed/11680614" } ] } ], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "64.02", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000171303", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000171303" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "65.47", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000171303", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000171303" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "63.24", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000171303", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000171303" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "72.85", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000171303", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000171303" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "75.26", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000171303", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000171303" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "61.25", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000171303", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000171303" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "47.76", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000171303", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000171303" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "66.6", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000171303", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000171303" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "70.55", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000171303", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000171303" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "81.45", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000171303", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000171303" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "55.37", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000171303", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000171303" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "72.08", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000171303", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000171303" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "62.56", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000171303", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000171303" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "down", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "O14649", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O14649" } ], "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": "Yes", "trend": "down", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "O14649", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O14649" } ], "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", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, intestinal", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "O14649", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O14649" } ], "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer 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", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "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 the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Head and neck cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "O14649", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O14649" } ], "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. 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": "Yes", "trend": "down", "name": "Lung cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1324", "evidence": [ { "database": "BioXpress", "id": "O14649", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O14649" } ], "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": "No", "trend": "up", "name": "Breast cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1612", "evidence": [ { "database": "BioXpress", "id": "O14649", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O14649" } ], "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": "No", "trend": "up", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "O14649", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O14649" } ], "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": "up", "name": "Kidney cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:263", "evidence": [ { "database": "BioXpress", "id": "O14649", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O14649" } ], "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": "O14649", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O14649" } ], "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": "Yes", "trend": "down", "name": "Uterine cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:363", "evidence": [ { "database": "BioXpress", "id": "O14649", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O14649" } ], "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": "Yes", "trend": "down", "name": "Esophageal cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:5041", "evidence": [ { "database": "BioXpress", "id": "O14649", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O14649" } ], "disease": [ { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, somatic", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant oesophagus tumour", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "oesophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of abdominal oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of distal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of proximal third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumour of the middle third of the oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Aerodigestive tract cancer, susceptibility to", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Escc, susceptibility to", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, susceptibility to", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "gastric cardia adenocarcinoma, susceptibility to", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Colorectal cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:9256", "evidence": [ { "database": "BioXpress", "id": "O14649", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O14649" } ], "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "large intestine cancer", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ] } ] } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O14649", "url": "https://www.uniprot.org/uniprot/O14649" } ], "common_name": "Human" } ], "gene": [ { "name": "KCNK3", "url": "https://www.uniprot.org/uniprot/O14649", "locus": { "chromosome": "2", "start_pos": 26733420, "end_pos": 26692722, "strand": "-", "evidence": [ { "database": "Ensembl Gene", "id": "ENSG00000171303", "url": "https://www.ensembl.org/id/ENSG00000171303" } ] } } ], "crossref": [ { "id": "ENSG00000171303", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000171303", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "O14649", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O14649", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "CHEMBL2321613", "url": "https://www.ebi.ac.uk/chembldb/target/inspect/CHEMBL2321613", "database": "ChEMBL", "categories": [ "Other" ] }, { "id": "KCNK3", "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=KCNK3", "database": "GeneCards", "categories": [ "Gene Annotation", "Organism-specific" ] }, { "id": "3777", "url": "https://www.ncbi.nlm.nih.gov/gene/3777", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "6278", "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=6278", "database": "HGNC", "categories": [ "Organism-specific" ] }, { "id": "O14649", "url": "https://www.ebi.ac.uk/intact/interactors/id:O14649*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "IPR003092", "url": "https://www.ebi.ac.uk/interpro/entry/IPR003092", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR003280", "url": "https://www.ebi.ac.uk/interpro/entry/IPR003280", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR005406", "url": "https://www.ebi.ac.uk/interpro/entry/IPR005406", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR013099", "url": "https://www.ebi.ac.uk/interpro/entry/IPR013099", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "hsa:3777", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:3777", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "603220", "url": "http://www.omim.org/entry/603220", "database": "MIM", "categories": [ "Other" ] }, { "id": "615344", "url": "http://www.omim.org/entry/615344", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_O14649", "url": "https://www.nextprot.org/entry/NX_O14649", "database": "neXtProt", "categories": [ "Protein", "Organism-specific" ] }, { "id": "YMEQGES", "url": "https://omabrowser.org/oma/group/YMEQGES/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "600333at2759", "url": "http://www.orthodb.org/?query=600333at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR11003", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11003", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR11003:SF138", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11003:SF138", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "6RV2", "url": "https://www.rcsb.org/structure/6RV2", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "6RV3", "url": "https://www.rcsb.org/structure/6RV3", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "6RV4", "url": "https://www.rcsb.org/structure/6RV4", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "PF07885", "url": "http://pfam.xfam.org/family/PF07885", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "O14649", "url": "https://pharos.nih.gov/targets/O14649", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_O14649", "url": "http://purl.obolibrary.org/obo/PR_O14649", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-1299316", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1299316", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-5576886", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5576886", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_002237", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002237", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "O14649", "url": "https://www.uniprot.org/uniprot/O14649", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O14649-1", "url": "https://www.uniprot.org/uniprot/O14649-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MKRQNVRTLALIVCTFTYLLVGAAVFDALESEPELIERQRLELRQQELRARYNLSQGGYEELERVVLRLKPHKAGVQWRFAGSFYFAITVITTIGYGHAAPSTDGGKVFCMFYALLGIPLTLVMFQSLGERINTLVRYLLHRAKKGLGMRRADVSMANMVLIGFFSCISTLCIGAAAFSHYEHWTFFQAYYYCFITLTTIGFGDYVALQKDQALQTQPQYVAFSFVYILTGLTVIGAFLNLVVLRFMTMNAEDEKRDAEHRALLTRNGQAGGGGGGGSAHTTDTASSTAAAGGGGFRNVYAEVLHFQSMCSCLWYKSREKLQYSIPMIIPRDLSTSDTCVEQSHSSPGGGGRYSDTPSRRCLCSGAPRSAISSVSTGLHSLSTFRGLMKRRSSV", "length": 394, "header": "sp|O14649-1|KCNK3_HUMAN Isoform 1 of Potassium channel subfamily K member 3 OS=Homo sapiens OX=9606 GN=KCNK3 PE=1 SV=1 CANONICAL=O14649-1" }, "isoforms": [ { "isoform_ac": "O14649-1", "url": "", "sequence": { "sequence": "MKRQNVRTLALIVCTFTYLLVGAAVFDALESEPELIERQRLELRQQELRARYNLSQGGYEELERVVLRLKPHKAGVQWRFAGSFYFAITVITTIGYGHAAPSTDGGKVFCMFYALLGIPLTLVMFQSLGERINTLVRYLLHRAKKGLGMRRADVSMANMVLIGFFSCISTLCIGAAAFSHYEHWTFFQAYYYCFITLTTIGFGDYVALQKDQALQTQPQYVAFSFVYILTGLTVIGAFLNLVVLRFMTMNAEDEKRDAEHRALLTRNGQAGGGGGGGSAHTTDTASSTAAAGGGGFRNVYAEVLHFQSMCSCLWYKSREKLQYSIPMIIPRDLSTSDTCVEQSHSSPGGGGRYSDTPSRRCLCSGAPRSAISSVSTGLHSLSTFRGLMKRRSSV", "length": 394, "header": "sp|O14649-1|KCNK3_HUMAN Isoform 1 of Potassium channel subfamily K member 3 OS=Homo sapiens OX=9606 GN=KCNK3 PE=1 SV=1 CANONICAL=O14649-1" }, "locus": { "chromosome": "2", "start_pos": 26728565, "end_pos": 26692876, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000302909.4", "url": "https://www.ensembl.org/id/ENST00000302909.4" }, { "database": "Ensembl Peptide", "id": "ENSP00000306275.3", "url": "https://www.ensembl.org/id/ENSP00000306275.3" } ] } } ], "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 53, "start_aa": "Asn", "end_pos": 53, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn53", "evidence": [ { "id": "O14649", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O14649#ptm_processing" } ] } ], "phosphorylation": [ { "start_pos": 336, "end_pos": 336, "kinase_uniprot_canonical_ac": "Q13464-1", "kinase_gene_name": "ROCK1", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O14649", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O14649" }, { "database": "PubMed", "id": "21838752", "url": "https://glygen.org/publication/PubMed/21838752" } ], "site_lbl": "Ser336" }, { "start_pos": 393, "end_pos": 393, "kinase_uniprot_canonical_ac": "P17612-1", "kinase_gene_name": "PRKACA", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O14649", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O14649" }, { "database": "PubMed", "id": "21357689", "url": "https://glygen.org/publication/PubMed/21357689" } ], "site_lbl": "Ser393" }, { "start_pos": 393, "end_pos": 393, "kinase_uniprot_canonical_ac": "P51812-1", "kinase_gene_name": "RPS6KA3", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O14649", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O14649" }, { "database": "PubMed", "id": "21357689", "url": "https://glygen.org/publication/PubMed/21357689" } ], "site_lbl": "Ser393" }, { "start_pos": 393, "end_pos": 393, "kinase_uniprot_canonical_ac": "Q13464-1", "kinase_gene_name": "ROCK1", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O14649", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O14649" }, { "database": "PubMed", "id": "21838752", "url": "https://glygen.org/publication/PubMed/21838752" } ], "site_lbl": "Ser393" } ], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_predicted" ], "publication": [ { "title": "Inhalational anesthetics activate two-pore-domain background K+ channels.", "journal": "Nat. Neurosci.", "date": "1999", "authors": "Patel AJ, Honore E, Lesage F, Fink M, Romey G, Lazdunski M", "evidence": [ { "database": "UniProtKB", "id": "O14649", "url": "https://www.uniprot.org/uniprot/O14649" } ], "reference": [ { "type": "PubMed", "id": "10321245", "url": "https://glygen.org/publication/PubMed/10321245" } ] }, { "title": "Proton block and voltage gating are potassium-dependent in the cardiac leak channel Kcnk3.", "journal": "J. Biol. Chem.", "date": "2000", "authors": "Lopes CM, Gallagher PG, Buck ME, Butler MH, Goldstein SA", "evidence": [ { "database": "UniProtKB", "id": "O14649", "url": "https://www.uniprot.org/uniprot/O14649" } ], "reference": [ { "type": "PubMed", "id": "10748056", "url": "https://glygen.org/publication/PubMed/10748056" } ] }, { "title": "TASK-5, a novel member of the tandem pore K+ channel family.", "journal": "Pflugers Archiv : European journal of physiology", "date": "2001", "authors": "Ashmole I, Goodwin PA, Stanfield PR", "evidence": [ { "database": "UniProtKB", "id": "O14649", "url": "https://www.uniprot.org/uniprot/O14649" } ], "reference": [ { "type": "PubMed", "id": "11680614", "url": "https://glygen.org/publication/PubMed/11680614" } ] }, { "title": "Mechanism of the voltage sensitivity of IRK1 inward-rectifier K+ channel block by the polyamine spermine.", "journal": "The Journal of general physiology", "date": "2005", "authors": "Shin HG, Lu Z", "evidence": [ { "database": "Reactome", "id": "R-HSA-5576886", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5576886" } ], "reference": [ { "type": "PubMed", "id": "15795311", "url": "https://glygen.org/publication/PubMed/15795311" } ] }, { "title": "International Union of Pharmacology. LV. Nomenclature and molecular relationships of two-P potassium channels.", "journal": "Pharmacological reviews", "date": "2005", "authors": "Goldstein SA, Bayliss DA, Kim D, Lesage F, Plant LD, Rajan S", "evidence": [ { "database": "Reactome", "id": "R-HSA-5576886", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5576886" } ], "reference": [ { "type": "PubMed", "id": "16382106", "url": "https://glygen.org/publication/PubMed/16382106" } ] }, { "title": "Biophysical, pharmacological, and functional characteristics of cloned and native mammalian two-pore domain K+ channels.", "journal": "Cell biochemistry and biophysics", "date": "2007", "authors": "Lotshaw DP", "evidence": [ { "database": "Reactome", "id": "R-HSA-5576886", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5576886" } ], "reference": [ { "type": "PubMed", "id": "17652773", "url": "https://glygen.org/publication/PubMed/17652773" } ] }, { "title": "Altered neuronal expression of TASK1 and TASK3 potassium channels in rodent and human autoimmune CNS inflammation.", "journal": "Neuroscience letters", "date": "2008", "authors": "Meuth SG, Kanyshkov T, Melzer N, Bittner S, Kieseier BC, Budde T, Wiendl H", "evidence": [ { "database": "Reactome", "id": "R-HSA-1299316", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1299316" } ], "reference": [ { "type": "PubMed", "id": "18824070", "url": "https://glygen.org/publication/PubMed/18824070" } ] }, { "title": "Molecular background of leak K+ currents: two-pore domain potassium channels.", "journal": "Physiological reviews", "date": "2010", "authors": "Enyedi P, Czirjak G", "evidence": [ { "database": "Reactome", "id": "R-HSA-5576886", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5576886" } ], "reference": [ { "type": "PubMed", "id": "20393194", "url": "https://glygen.org/publication/PubMed/20393194" } ] }, { "title": "Protein kinase A is central for forward transport of two-pore domain potassium channels K2P3.1 and K2P9.1.", "journal": "The Journal of biological chemistry", "date": "2011", "authors": "Mant A, Elliott D, Eyers PA, O'Kelly IM", "evidence": [ { "database": "iPTMnet", "id": "O14649", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O14649" } ], "reference": [ { "type": "PubMed", "id": "21357689", "url": "https://glygen.org/publication/PubMed/21357689" } ] }, { "title": "TASK1 (K(2P)3.1) K(+) channel inhibition by endothelin-1 is mediated through Rho kinase-dependent phosphorylation.", "journal": "British journal of pharmacology", "date": "2012", "authors": "Seyler C, Duthil-Straub E, Zitron E, Gierten J, Scholz EP, Fink RH, Karle CA, Becker R, Katus HA, Thomas D", "evidence": [ { "database": "iPTMnet", "id": "O14649", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O14649" } ], "reference": [ { "type": "PubMed", "id": "21838752", "url": "https://glygen.org/publication/PubMed/21838752" } ] }, { "title": "SUMOylation silences heterodimeric TASK potassium channels containing K2P1 subunits in cerebellar granule neurons.", "journal": "Science signaling", "date": "2012", "authors": "Plant LD, Zuniga L, Araki D, Marks JD, Goldstein SA", "evidence": [ { "database": "UniProtKB", "id": "O14649", "url": "https://www.uniprot.org/uniprot/O14649" } ], "reference": [ { "type": "PubMed", "id": "23169818", "url": "https://glygen.org/publication/PubMed/23169818" } ] }, { "title": "A novel channelopathy in pulmonary arterial hypertension.", "journal": "The New England journal of medicine", "date": "2013", "authors": "Ma L, Roman-Campos D, Austin ED, Eyries M, Sampson KS, Soubrier F, Germain M, Tregouet DA, Borczuk A, Rosenzweig EB, Girerd B, Montani D, Humbert M, Loyd JE, Kass RS, Chung WK", "evidence": [ { "database": "UniProtKB", "id": "O14649", "url": "https://www.uniprot.org/uniprot/O14649" } ], "reference": [ { "type": "PubMed", "id": "23883380", "url": "https://glygen.org/publication/PubMed/23883380" } ] }, { "title": "Expression of Proton-Sensitive GPR31, GPR151, TASK1 and TASK3 in Common Skin Tumors.", "journal": "Cells", "date": "2021", "authors": "Forch A, Wallner S, Zeman F, Ettl T, Brochhausen C, Schreml S", "evidence": [ { "database": "RefSeq", "id": "NP_002237", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002237" } ], "reference": [ { "type": "PubMed", "id": "35011589", "url": "https://glygen.org/publication/PubMed/35011589" } ] }, { "title": "MicroRNAs Regulate TASK-1 and Are Linked to Myocardial Dilatation in Atrial Fibrillation.", "journal": "Journal of the American Heart Association", "date": "2022", "authors": "Wiedmann F, Kraft M, Kallenberger S, Buscher A, Paasche A, Blochberger PL, Seeger T, Javorszky N, Warnecke G, Arif R, Kremer J, Karck M, Frey N, Schmidt C", "evidence": [ { "database": "RefSeq", "id": "NP_002237", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002237" } ], "reference": [ { "type": "PubMed", "id": "35301863", "url": "https://glygen.org/publication/PubMed/35301863" } ] }, { "title": "Crosstalk between BMP signaling and KCNK3 in phenotypic switching of pulmonary vascular smooth muscle cells.", "journal": "BMB reports", "date": "2022-11", "authors": "Yeo Yeongju, Jeong Hayoung, Kim Minju, Choi Yanghee, Kim Koung Li, Suh Wonhee", "evidence": [ { "database": "RefSeq", "id": "NP_002237", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002237" } ], "reference": [ { "type": "PubMed", "id": "36016502", "url": "https://glygen.org/publication/PubMed/36016502" } ] }, { "title": "Gain-of-function mutations in KCNK3 cause a developmental disorder with sleep apnea.", "journal": "Nature genetics", "date": "2022-10", "authors": "S\u00f6rmann Janina, Schewe Marcus, Proks Peter, Jouen-Tachoire Thibault, Rao Shanlin, Riel Elena B, Agre Katherine E, Begtrup Amber, Dean John, Descartes Maria, Fischer Jan, Gardham Alice, Lahner Carrie, Mark Paul R, Muppidi Srikanth, Pichurin Pavel N, Porrmann Joseph, Schallner Jens, Smith Kirstin, Straub Volker, Vasudevan Pradeep, Willaert Rebecca, Carpenter Elisabeth P, R\u00f6dstr\u00f6m Karin E J, Hahn Michael G, M\u00fcller Thomas, Baukrowitz Thomas, Hurles Matthew E, Wright Caroline F, Tucker Stephen J", "evidence": [ { "database": "RefSeq", "id": "NP_002237", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002237" } ], "reference": [ { "type": "PubMed", "id": "36195757", "url": "https://glygen.org/publication/PubMed/36195757" } ] }, { "title": "Activation of neurokinin-III receptors modulates human atrial TASK-1 currents.", "journal": "Journal of molecular and cellular cardiology", "date": "2023-11", "authors": "Wiedmann Felix, Paasche Amelie, Nietfeld Jendrik, Kraft Manuel, Meyer Anna L, Warnecke Gregor, Karck Matthias, Frey Norbert, Schmidt Constanze", "evidence": [ { "database": "RefSeq", "id": "NP_002237", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002237" } ], "reference": [ { "type": "PubMed", "id": "37793594", "url": "https://glygen.org/publication/PubMed/37793594" } ] }, { "title": "TASK, a human background K+ channel to sense external pH variations near physiological pH.", "journal": "The EMBO journal", "date": "1997", "authors": "Duprat F, Lesage F, Fink M, Reyes R, Heurteaux C, Lazdunski M", "evidence": [ { "database": "UniProtKB", "id": "O14649", "url": "https://www.uniprot.org/uniprot/O14649" } ], "reference": [ { "type": "PubMed", "id": "9312005", "url": "https://glygen.org/publication/PubMed/9312005" } ] } ], "pathway": [ { "id": "hsa:3777", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:3777", "resource": "KEGG Pathway" }, { "id": "R-HSA-1299316", "name": "TWIK-releated acid-sensitive K+ channel (TASK)", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1299316", "resource": "Reactome", "description": "TWIK-releated acid-sensitive K+ channel (TASK)" }, { "id": "R-HSA-5576886", "name": "Phase 4 - resting membrane potential", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5576886", "resource": "Reactome", "description": "Phase 4 - resting membrane potential" } ], "orthologs": [ { "uniprot_canonical_ac": "O35111-1", "protein_name": "Potassium channel subfamily K member 3", "gene_name": "Kcnk3", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MKRQNVRTLALIVCTFTYLLVGAAVFDALESEPEMIERQRLELRQLELRARYNLSEGGYEELERVVLRLKPHKAGVQWRFAGSFYFAITVITTIGYGHAAPSTDGGKVFCMFYALLGIPLTLVMFQSLGERINTFVRYLLHRAKRGLGMRHAEVSMANMVLIGFVSCISTLCIGAAAFSYYERWTFFQAYYYCFITLTTIGFGDYVALQKDQALQTQPQYVAFSFVYILTGLTVIGAFLNLVVLRFMTMNAEDEKRDAEHRALLTHNGQAVGLGGLSCLSGSLGDGVRPRDPVTCAAAAGGVGVGVGGSGFRNVYAEVLHFQSMCSCLWYKSREKLQYSIPMIIPRDLSTSDTCVEHSHSSPGGGGRYSDTPSHPCLCSGTQRSAISSVSTGLHSLAAFRGLMKRRSSV", "length": 409 }, "evidence": [ { "id": "45920011", "url": "http://www.informatics.jax.org/homology/45920011", "database": "MGI" }, { "id": "O14649", "url": "https://omabrowser.org/oma/group/O14649/", "database": "OMA" } ], "common_name": "Mouse" }, { "uniprot_canonical_ac": "O54912-1", "protein_name": "Potassium channel subfamily K member 3", "gene_name": "Kcnk3", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MKRQNVRTLALIVCTFTYLLVGAAVFDALESEPEMIERQRLELRQLELRARYNLSEGGYEELERVVLRLKPHKAGVQWRFAGSFYFAITVITTIGYGHAAPSTDGGKVFCMFYALLGIPLTLVMFQSLGERINTFVRYLLHRAKRGLGMRHAEVSMANMVLIGFVSCISTLCIGAAAFSYYERWTFFQAYYYCFITLTTIGFGDYVALQKDQALQTQPQYVAFSFVYILTGLTVIGAFLNLVVLRFMTMNAEDEKRDAEHRALLTHNGQAGGLGGLSCLSGSLGDGVRPRDPVTCAAAAGGMGVGVGVGGSGFRNVYAEMLHFQSMCSCLWYKSREKLQYSIPMIIPRDLSTSDTCVEHSHSSPGGGGRYSDTPSHPCLCSGTQRSAISSVSTGLHSLATFRGLMKRRSSV", "length": 411 }, "evidence": [ { "id": "45920011", "url": "http://www.informatics.jax.org/homology/45920011", "database": "MGI" }, { "id": "O14649", "url": "https://omabrowser.org/oma/group/O14649/", "database": "OMA" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "Q9VFS9-1", "protein_name": "TWIK-related acid-sensitive K[+] channel 6, isoform F", "gene_name": "Task6", "tax_id": 7227, "organism": "Drosophila melanogaster", "sequence": { "sequence": "MKKQNVRTISLIVCTFTYLLVGAAVFDALESETEKRRWEALQDAEDMIIRKYNISQEDFKVMETVVLKSESHKAGQQWKFTGAFYYATTVLTTIGYGHSTPSTVGGKLFTMCYAIVGIPLGLVMFQSIGERVNRLSSYVIKAVRSSLRCKRTVASEVDLICVVTTLSSLTIAGGAAAFSKFEGWSYFDSVYYCFITLTTIGFGDMVALQRDNALNRKPEYVMFALIFILFGLAIVAASLNLLVLRFVTMNTEDERRDEAQAMQALQVAVKLEGDVITSNGSILSGYEGHDGQSLNGSNTSSMCSCHCICLNGNRHKKSSNLEKNNDAENQYKLRQSPTHIRHLLPEVVPMQDLNYDYDTQSLHTLADRGTMDSSYMGVDMADMGDTGSMELRPHTLLKRNVSLLSIRI", "length": 408 }, "evidence": [ { "id": "O14649", "url": "https://omabrowser.org/oma/group/O14649/", "database": "OMA" } ], "common_name": "Fruit fly" } ], "go_annotation": { "categories": [ { "name": "Molecular Function", "total": 6, "go_terms": [ { "name": "outward rectifier potassium channel activity", "id": "GO:0015271", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015271", "evidence": [ { "database": "UniProtKB", "id": "O14649", "url": "https://www.uniprot.org/uniprot/O14649" } ], "pmid": "" }, { "name": "potassium ion leak channel activity", "id": "GO:0022841", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022841", "evidence": [ { "database": "UniProtKB", "id": "O14649", "url": "https://www.uniprot.org/uniprot/O14649" } ], "pmid": "" }, { "name": "monoatomic ion channel activity", "id": "GO:0005216", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005216", "evidence": [ { "database": "UniProtKB", "id": "O14649", "url": "https://www.uniprot.org/uniprot/O14649" } ], "pmid": "" }, { "name": "potassium channel activity", "id": "GO:0005267", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005267", "evidence": [ { "database": "UniProtKB", "id": "O14649", "url": "https://www.uniprot.org/uniprot/O14649" } ], "pmid": "" }, { "name": "S100 protein binding", "id": "GO:0044548", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044548", "evidence": [ { "database": "UniProtKB", "id": "O14649", "url": "https://www.uniprot.org/uniprot/O14649" } ], "pmid": "" }, { "name": "open rectifier potassium channel activity", "id": "GO:0005252", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005252", "evidence": [ { "database": "UniProtKB", "id": "O14649", "url": "https://www.uniprot.org/uniprot/O14649" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 11, "go_terms": [ { "name": "stabilization of membrane potential", "id": "GO:0030322", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030322", "evidence": [ { "database": "UniProtKB", "id": "O14649", "url": "https://www.uniprot.org/uniprot/O14649" } ], "pmid": "" }, { "name": "chemical synaptic transmission", "id": "GO:0007268", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007268", "evidence": [ { "database": "UniProtKB", "id": "O14649", "url": "https://www.uniprot.org/uniprot/O14649" } ], "pmid": "" }, { "name": "monoatomic ion transmembrane transport", "id": "GO:0034220", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034220", "evidence": [ { "database": "UniProtKB", "id": "O14649", "url": "https://www.uniprot.org/uniprot/O14649" } ], "pmid": "" }, { "name": "cellular response to hypoxia", "id": "GO:0071456", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071456", "evidence": [ { "database": "UniProtKB", "id": "O14649", "url": "https://www.uniprot.org/uniprot/O14649" } ], "pmid": "" }, { "name": "potassium ion transport", "id": "GO:0006813", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006813", "evidence": [ { "database": "UniProtKB", "id": "O14649", "url": "https://www.uniprot.org/uniprot/O14649" } ], "pmid": "" }, { "name": "response to xenobiotic stimulus", "id": "GO:0009410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009410", "evidence": [ { "database": "UniProtKB", "id": "O14649", "url": "https://www.uniprot.org/uniprot/O14649" } ], "pmid": "" }, { "name": "negative regulation of cytosolic calcium ion concentration", "id": "GO:0051481", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051481", "evidence": [ { "database": "UniProtKB", "id": "O14649", "url": "https://www.uniprot.org/uniprot/O14649" } ], "pmid": "" }, { "name": "regulation of resting membrane potential", "id": "GO:0060075", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060075", "evidence": [ { "database": "UniProtKB", "id": "O14649", "url": "https://www.uniprot.org/uniprot/O14649" } ], "pmid": "" }, { "name": "cellular response to zinc ion", "id": "GO:0071294", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071294", "evidence": [ { "database": "UniProtKB", "id": "O14649", "url": "https://www.uniprot.org/uniprot/O14649" } ], "pmid": "" }, { "name": "potassium ion transmembrane transport", "id": "GO:0071805", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071805", "evidence": [ { "database": "UniProtKB", "id": "O14649", "url": "https://www.uniprot.org/uniprot/O14649" } ], "pmid": "" }, { "name": "cochlea development", "id": "GO:0090102", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090102", "evidence": [ { "database": "UniProtKB", "id": "O14649", "url": "https://www.uniprot.org/uniprot/O14649" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 2, "go_terms": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "O14649", "url": "https://www.uniprot.org/uniprot/O14649" } ], "pmid": "" }, { "name": "synapse", "id": "GO:0045202", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045202", "evidence": [ { "database": "UniProtKB", "id": "O14649", "url": "https://www.uniprot.org/uniprot/O14649" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 53, "end_pos": 55, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], "reactions": [], "reaction_participants": [], "reaction_enzymes": [], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "homologset.mgi", "label": "MGI Homologs" }, { "name": "homologset.oma", "label": "OMA Homologs" } ], "sequence_features": { "n_linked_sites": [ 53 ], "o_linked_sites": [], "snv_sites": [ 15, 380 ], "glycation_sites": [], "phosphorylation_sites": [ 336, 393 ], "sequon_annotation_sites": [ { "start_pos": 53, "end_pos": 55 } ] }, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 1 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 1 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 4 }, { "field": "total_sites", "count": 2 } ], "sort_fields": [ "start_pos", "end_pos", "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 2 }, { "field": "total_sites", "count": 2 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 18 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }