{ "uniprot_canonical_ac": "O43819-1", "uniprot_ac": "O43819", "uniprot_id": "SCO2_HUMAN", "mass": { "chemical_mass": 29810.0, "monoisotopic_mass": 29810.0 }, "refseq": { "ac": "NP_001162580", "name": "protein SCO2 homolog, mitochondrial precursor", "summary": "Cytochrome c oxidase (COX) catalyzes the transfer of electrons from cytochrome c to molecular oxygen, which helps to maintain the proton gradient across the inner mitochondrial membrane that is necessary for aerobic ATP production. Human COX is a multimeric protein complex that requires several assembly factors; this gene encodes one of the COX assembly factors. The encoded protein is a metallochaperone that is involved in the biogenesis of cytochrome c oxidase subunit II. Mutations in this gene are associated with fatal infantile encephalocardiomyopathy and myopia 6. [provided by RefSeq, Oct 2014].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001162580" }, "gene_names": [ { "name": "SCO2", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O43819", "id": "O43819" }, { "name": "CEMCOX1; ECGF1; Gliostatin; MC4DN2; MYP6; PD-ECGF; SCO1L; TdRPase; TP; TYMP", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001162580", "id": "NP_001162580" }, { "name": "SCO2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001162580", "id": "NP_001162580" } ], "protein_names": [ { "name": "Protein SCO2 homolog, mitochondrial", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O43819" }, { "name": "protein SCO2 homolog, mitochondrial precursor", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001162580", "id": "NP_001162580" }, { "name": "protein SCO2 homolog, mitochondrial; SCO cytochrome oxidase deficient homolog 2; SCO2, cytochrome c oxidase assembly protein; Thymidine phosphorylase; Platelet-derived endothelial cell growth factor; SCO cytochrome c oxidase assembly protein 2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001162580", "id": "NP_001162580" } ], "function": [ { "annotation": "Copper metallochaperone essential for the synthesis and maturation of cytochrome c oxidase subunit II (MT-CO2/COX2). Involved in transporting copper to the Cu(A) site on MT-CO2/COX2 (PubMed:15229189, PubMed:17189203). Also acts as a thiol-disulfide oxidoreductase to regulate the redox state of the cysteines in SCO1 during maturation of MT-CO2/COX2 (PubMed:19336478).", "evidence": [ { "database": "UniProtKB", "id": "O43819", "url": "https://www.uniprot.org/uniprot/O43819#function" }, { "database": "PubMed", "id": "15229189", "url": "https://glygen.org/publication/PubMed/15229189" }, { "database": "PubMed", "id": "19336478", "url": "https://glygen.org/publication/PubMed/19336478" }, { "database": "PubMed", "id": "17189203", "url": "https://glygen.org/publication/PubMed/17189203" } ] }, { "annotation": "Cytochrome c oxidase (COX) catalyzes the transfer of electrons from cytochrome c to molecular oxygen, which helps to maintain the proton gradient across the inner mitochondrial membrane that is necessary for aerobic ATP production. Human COX is a multimeric protein complex that requires several assembly factors; this gene encodes one of the COX assembly factors. The encoded protein is a metallochaperone that is involved in the biogenesis of cytochrome c oxidase subunit II. Mutations in this gene are associated with fatal infantile encephalocardiomyopathy and myopia 6. [provided by RefSeq, Oct 2014].", "evidence": [ { "database": "RefSeq", "id": "NP_001162580", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001162580" } ] }, { "annotation": "High expression of synthesis of cytochrome c oxidase 2 and TP53-induced glycolysis and apoptosis regulator can predict poor prognosis in human lung adenocarcinoma", "evidence": [ { "database": "RefSeq", "id": "NP_001162580", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001162580" }, { "database": "PubMed", "id": "29634976", "url": "https://glygen.org/publication/PubMed/29634976" } ] }, { "annotation": "Systemic Mitochondrial Oxidative Phosphorylation Protein Levels Correlate with Neuroimaging Measures in Chronically HIV-Infected Individuals. Erratum:[AIDS Res Hum Retroviruses. 2020 Dec;36(12):1083. PMID: 33264061]", "evidence": [ { "database": "RefSeq", "id": "NP_001162580", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001162580" }, { "database": "PubMed", "id": "31617381", "url": "https://glygen.org/publication/PubMed/31617381" } ] }, { "annotation": "TCF19 and p53 regulate transcription of TIGAR and SCO2 in HCC for mitochondrial energy metabolism and stress adaptation.", "evidence": [ { "database": "RefSeq", "id": "NP_001162580", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001162580" }, { "database": "PubMed", "id": "34369624", "url": "https://glygen.org/publication/PubMed/34369624" } ] } ], "disease": [ { "disease_id": "DOID:0080357", "recommended_name": { "id": "DOID:0080357", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080357", "name": "mitochondrial complex IV deficiency nuclear type 2", "description": "A COX deficiency, infantile mitochondrial myopathy that has_material_basis_in compound heterozygous mutation in the SCO2 gene on chromosome 22q13." }, "synonyms": [ { "id": "DOID:0080357", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080357", "name": "MC4DN2", "description": "" }, { "id": "DOID:0080357", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080357", "name": "fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 1", "description": "" }, { "id": "MONDO:0011451", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011451", "name": "cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1", "description": "Any fatal infantile encephalocardiomyopathy in which the cause of the disease is a mutation in the SCO2 gene." }, { "id": "MONDO:0011451", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011451", "name": "SCO2 fatal infantile encephalocardiomyopathy", "description": "" }, { "id": "MONDO:0011451", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011451", "name": "cardioencephalomyopathy, fatal infantile, due to cytochrome C oxidase deficiency type 1", "description": "" }, { "id": "MONDO:0011451", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011451", "name": "cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1", "description": "" }, { "id": "MONDO:0011451", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011451", "name": "fatal infantile encephalocardiomyopathy caused by mutation in SCO2", "description": "" }, { "id": "MONDO:0011451", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011451", "name": "mitochondrial complex IV deficiency, nuclear type 2", "description": "" }, { "id": "MONDO:0011451", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011451", "name": "CEMCOX1", "description": "" }, { "id": "MONDO:0011451", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011451", "name": "cytochrome C oxidase deficiency, fatal infantile, with cardioencephalomyopathy", "description": "" }, { "id": "MIM:604377", "resource": "MIM", "url": "https://www.omim.org/entry/604377", "name": "Mitochondrial complex IV deficiency, nuclear type 2", "description": "Mitochondrial complex IV deficiency, nuclear type 2" } ], "evidence": [ { "id": "604377", "database": "MIM", "url": "https://www.omim.org/entry/604377" } ] }, { "disease_id": "DOID:11830", "recommended_name": { "id": "DOID:11830", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11830", "name": "myopia", "description": "A refractive error characterized by the inability to see farther objects clearly." }, "synonyms": [ { "id": "DOID:11830", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11830", "name": "near vision", "description": "" }, { "id": "DOID:11830", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11830", "name": "near-sightedness", "description": "" }, { "id": "DOID:11830", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11830", "name": "short-sightedness", "description": "" }, { "id": "MONDO:0012229", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012229", "name": "myopia 9", "description": "" }, { "id": "MONDO:0012229", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012229", "name": "MYP9", "description": "" }, { "id": "MONDO:0012229", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012229", "name": "myopia 9", "description": "" }, { "id": "MONDO:0012230", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012230", "name": "myopia 10", "description": "" }, { "id": "MONDO:0012230", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012230", "name": "MYP10", "description": "" }, { "id": "MONDO:0012230", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012230", "name": "myopia 10", "description": "" }, { "id": "MONDO:0012227", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012227", "name": "myopia 7", "description": "" }, { "id": "MONDO:0012227", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012227", "name": "MYP7", "description": "" }, { "id": "MONDO:0012227", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012227", "name": "myopia 7", "description": "" }, { "id": "MONDO:0013506", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013506", "name": "schizophrenia 16", "description": "A schizophrenia that has material basis in a mutation on chromosome 7q36.3." }, { "id": "MONDO:0013506", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013506", "name": "SCZD16", "description": "" }, { "id": "MONDO:0013506", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013506", "name": "schizophrenia 16", "description": "" }, { "id": "MONDO:0013506", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013506", "name": "schizophrenia type 16", "description": "" }, { "id": "MONDO:0013506", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013506", "name": "chromosome 7Q36.3 Duplication syndrome, 362-Kb", "description": "" }, { "id": "MONDO:0013506", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013506", "name": "schizophrenia susceptibility locus, chromosome 7Q36.3-related", "description": "" }, { "id": "MONDO:0010685", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010685", "name": "myopia 1, X-linked", "description": "" }, { "id": "MONDO:0010685", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010685", "name": "MYP1", "description": "" }, { "id": "MONDO:0010685", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010685", "name": "myopia 1, X-linked", "description": "" }, { "id": "MONDO:0010685", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010685", "name": "myopia-1, X-linked recessive", "description": "" }, { "id": "MONDO:0012995", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012995", "name": "myopia 15, autosomal dominant", "description": "" }, { "id": "MONDO:0012995", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012995", "name": "MYP15", "description": "" }, { "id": "MONDO:0012995", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012995", "name": "myopia 15, autosomal dominant", "description": "" }, { "id": "MONDO:0013604", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013604", "name": "myopia 21, autosomal dominant", "description": "Any myopia (disease) in which the cause of the disease is a mutation in the ZNF644 gene." }, { "id": "MONDO:0013604", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013604", "name": "ZNF644 myopia (disease)", "description": "" }, { "id": "MONDO:0013604", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013604", "name": "myopia (disease) caused by mutation in ZNF644", "description": "" }, { "id": "MONDO:0013604", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013604", "name": "myopia 21, autosomal dominant", "description": "" }, { "id": "MONDO:0013604", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013604", "name": "MYP21", "description": "" }, { "id": "MONDO:0014177", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014177", "name": "myopia 22, autosomal dominant", "description": "" }, { "id": "MONDO:0014177", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014177", "name": "myopia 22, autosomal dominant", "description": "" }, { "id": "MONDO:0014177", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014177", "name": "MYP22", "description": "" }, { "id": "MONDO:0009713", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009713", "name": "myopia 18, autosomal recessive", "description": "" }, { "id": "MONDO:0009713", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009713", "name": "MYP18", "description": "" }, { "id": "MONDO:0009713", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009713", "name": "myopia 18, autosomal recessive", "description": "" }, { "id": "MONDO:0014411", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014411", "name": "myopia 24, autosomal dominant", "description": "" }, { "id": "MONDO:0014411", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014411", "name": "myopia 24, autosomal dominant", "description": "" }, { "id": "MONDO:0014411", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014411", "name": "MYP24", "description": "" }, { "id": "MONDO:0012228", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012228", "name": "myopia 8", "description": "" }, { "id": "MONDO:0012228", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012228", "name": "MYP8", "description": "" }, { "id": "MONDO:0012228", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012228", "name": "myopia 8", "description": "" }, { "id": "MONDO:0014183", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014183", "name": "myopia 23, autosomal recessive", "description": "" }, { "id": "MONDO:0014183", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014183", "name": "myopia 23, autosomal recessive", "description": "" }, { "id": "MONDO:0014183", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014183", "name": "MYP23", "description": "" }, { "id": "MONDO:0011300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011300", "name": "myopia 3, autosomal dominant", "description": "" }, { "id": "MONDO:0011300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011300", "name": "MYP3", "description": "" }, { "id": "MONDO:0011300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011300", "name": "myopia 3, autosomal dominant", "description": "" }, { "id": "MONDO:0011300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011300", "name": "myopia-3", "description": "" }, { "id": "MONDO:0012154", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012154", "name": "myopia 6", "description": "Any myopia in which the cause of the disease is a mutation in the SCO2 gene." }, { "id": "MONDO:0012154", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012154", "name": "SCO2 myopia (disease)", "description": "" }, { "id": "MONDO:0012154", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012154", "name": "myopia (disease) caused by mutation in SCO2", "description": "" }, { "id": "MONDO:0012154", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012154", "name": "myopia 6", "description": "" }, { "id": "MONDO:0012154", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012154", "name": "myopia type 6", "description": "" }, { "id": "MONDO:0012154", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012154", "name": "MYP6", "description": "" }, { "id": "MONDO:0012154", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012154", "name": "myopia, susceptibility to", "description": "" }, { "id": "MONDO:0012389", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012389", "name": "myopia 12, autosomal dominant", "description": "" }, { "id": "MONDO:0012389", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012389", "name": "MYP12", "description": "" }, { "id": "MONDO:0012389", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012389", "name": "myopia 12", "description": "" }, { "id": "MONDO:0012389", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012389", "name": "myopia 12, autosomal dominant", "description": "" }, { "id": "MONDO:0012388", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012388", "name": "myopia 11, autosomal dominant", "description": "" }, { "id": "MONDO:0012388", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012388", "name": "MYP11", "description": "" }, { "id": "MONDO:0012388", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012388", "name": "myopia 11", "description": "" }, { "id": "MONDO:0012388", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012388", "name": "myopia 11, autosomal dominant", "description": "" }, { "id": "MONDO:0010377", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010377", "name": "myopia 13, X-linked", "description": "" }, { "id": "MONDO:0010377", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010377", "name": "MYP13", "description": "" }, { "id": "MONDO:0010377", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010377", "name": "myopia 13", "description": "" }, { "id": "MONDO:0010377", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010377", "name": "myopia 13, X-linked", "description": "" }, { "id": "MONDO:0012021", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012021", "name": "myopia 17, autosomal dominant", "description": "" }, { "id": "MONDO:0012021", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012021", "name": "MYP17", "description": "" }, { "id": "MONDO:0012021", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012021", "name": "myopia 17, autosomal dominant", "description": "" }, { "id": "MONDO:0012021", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012021", "name": "myopia 4", "description": "" }, { "id": "MONDO:0012021", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012021", "name": "myopia 4, formerly", "description": "" }, { "id": "MONDO:0012469", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012469", "name": "myopia 14", "description": "" }, { "id": "MONDO:0012469", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012469", "name": "MYP14", "description": "" }, { "id": "MONDO:0012469", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012469", "name": "myopia 14", "description": "" }, { "id": "MONDO:0012045", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012045", "name": "myopia 5, autosomal dominant", "description": "" }, { "id": "MONDO:0012045", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012045", "name": "MYP5", "description": "" }, { "id": "MONDO:0012045", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012045", "name": "myopia 5, autosomal dominant", "description": "" }, { "id": "MONDO:0008053", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008053", "name": "myopia 2, autosomal dominant", "description": "" }, { "id": "MONDO:0008053", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008053", "name": "MYP2", "description": "" }, { "id": "MONDO:0008053", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008053", "name": "myopia 2, autosomal dominant", "description": "" }, { "id": "MONDO:0013603", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013603", "name": "myopia 20, autosomal dominant", "description": "" }, { "id": "MONDO:0013603", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013603", "name": "MYP20", "description": "" }, { "id": "MONDO:0013603", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013603", "name": "myopia 20, autosomal dominant", "description": "" }, { "id": "MONDO:0013508", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013508", "name": "myopia 19, autosomal dominant", "description": "" }, { "id": "MONDO:0013508", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013508", "name": "MYP19", "description": "" }, { "id": "MONDO:0013508", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013508", "name": "myopia 19, autosomal dominant", "description": "" }, { "id": "MONDO:0012932", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012932", "name": "myopia 16, autosomal dominant", "description": "" }, { "id": "MONDO:0012932", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012932", "name": "MYP16", "description": "" }, { "id": "MONDO:0012932", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012932", "name": "myopia 16", "description": "" }, { "id": "MONDO:0012932", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012932", "name": "myopia 16, autosomal dominant", "description": "" }, { "id": "MIM:614167", "resource": "MIM", "url": "https://www.omim.org/entry/614167", "name": "Myopia 21, autosomal dominant", "description": "Myopia 21, autosomal dominant" }, { "id": "MIM:615420", "resource": "MIM", "url": "https://www.omim.org/entry/615420", "name": "Myopia 22, autosomal dominant", "description": "Myopia 22, autosomal dominant" }, { "id": "MIM:615946", "resource": "MIM", "url": "https://www.omim.org/entry/615946", "name": "Myopia 24, autosomal dominant", "description": "Myopia 24, autosomal dominant" }, { "id": "MIM:615431", "resource": "MIM", "url": "https://www.omim.org/entry/615431", "name": "Myopia 23, autosomal recessive", "description": "Myopia 23, autosomal recessive" }, { "id": "MIM:608908", "resource": "MIM", "url": "https://www.omim.org/entry/608908", "name": "Myopia 6", "description": "Myopia 6" } ], "evidence": [ { "id": "608908", "database": "MIM", "url": "https://www.omim.org/entry/608908" } ] } ], "snv": [], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "80.77", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000284194", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000284194" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "85.82", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000284194", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000284194" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "77.44", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000284194", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000284194" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "49.96", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000284194", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000284194" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "84.98", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000284194", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000284194" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "83.7", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000284194", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000284194" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "73.7", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000284194", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000284194" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "78.08", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000284194", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000284194" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "84.22", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000284194", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000284194" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "66.85", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000284194", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000284194" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "84.53", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000284194", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000284194" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "84.79", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000284194", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000284194" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "85.31", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000284194", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000284194" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "up", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "O43819", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43819" } ], "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, on chromosome 7", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, hereditary", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "No", "trend": "down", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "O43819", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43819" } ], "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": "up", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "O43819", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43819" } ], "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": "up", "name": "Head and neck cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "O43819", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43819" } ], "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": "up", "name": "Lung cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1324", "evidence": [ { "database": "BioXpress", "id": "O43819", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43819" } ], "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "adenocarcinoma of lung, susceptibility to", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "Nonsmall cell lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "alveolar cell carcinoma", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung neoplasm", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Breast cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1612", "evidence": [ { "database": "BioXpress", "id": "O43819", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43819" } ], "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "A thoracic cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "O43819", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43819" } ], "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": "O43819", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43819" } ], "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ] } ] }, { "significant": "No", "trend": "down", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { "database": "BioXpress", "id": "O43819", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43819" } ], "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": "up", "name": "Uterine cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:363", "evidence": [ { "database": "BioXpress", "id": "O43819", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43819" } ], "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": "up", "name": "Esophageal cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:5041", "evidence": [ { "database": "BioXpress", "id": "O43819", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43819" } ], "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": "No", "trend": "down", "name": "Colorectal cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:9256", "evidence": [ { "database": "BioXpress", "id": "O43819", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43819" } ], "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": "O43819", "url": "https://www.uniprot.org/uniprot/O43819" } ], "common_name": "Human" } ], "gene": [ { "name": "SCO2", "url": "https://www.uniprot.org/uniprot/O43819", "locus": { "chromosome": "22", "start_pos": 50523568, "end_pos": 50526461, "strand": "+", "evidence": [ { "database": "Ensembl Gene", "id": "ENSG00000284194", "url": "https://www.ensembl.org/id/ENSG00000284194" } ] } } ], "crossref": [ { "id": "ENSG00000284194", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000284194", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "cd02968", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd02968", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "SCO2", "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=SCO2", "database": "GeneCards", "categories": [ "Gene Annotation", "Organism-specific" ] }, { "id": "9997", "url": "https://www.ncbi.nlm.nih.gov/gene/9997", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "10604", "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=10604", "database": "HGNC", "categories": [ "Organism-specific" ] }, { "id": "O43819", "url": "https://www.ebi.ac.uk/intact/interactors/id:O43819*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "IPR003782", "url": "https://www.ebi.ac.uk/interpro/entry/IPR003782", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR013766", "url": "https://www.ebi.ac.uk/interpro/entry/IPR013766", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR017276", "url": "https://www.ebi.ac.uk/interpro/entry/IPR017276", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR036249", "url": "https://www.ebi.ac.uk/interpro/entry/IPR036249", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "hsa:9997", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:9997", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "604272", "url": "http://www.omim.org/entry/604272", "database": "MIM", "categories": [ "Other" ] }, { "id": "604377", "url": "http://www.omim.org/entry/604377", "database": "MIM", "categories": [ "Other" ] }, { "id": "608908", "url": "http://www.omim.org/entry/608908", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_O43819", "url": "https://www.nextprot.org/entry/NX_O43819", "database": "neXtProt", "categories": [ "Protein", "Organism-specific" ] }, { "id": "O43819", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O43819", "database": "O-GlcNAc Database", "categories": [ "Glycoproteomics" ] }, { "id": "KHAGRDY", "url": "https://omabrowser.org/oma/group/KHAGRDY/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "169656at2759", "url": "http://www.orthodb.org/?query=169656at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR12151", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR12151", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR12151:SF2", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR12151:SF2", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "2RLI", "url": "https://www.rcsb.org/structure/2RLI", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "PF02630", "url": "http://pfam.xfam.org/family/PF02630", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "O43819", "url": "https://pharos.nih.gov/targets/O43819", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_O43819", "url": "http://purl.obolibrary.org/obo/PR_O43819", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-5628897", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5628897", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-611105", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-611105", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-9707564", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9707564", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_001162580", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001162580", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "A0A1W2PQK0", "url": "https://www.uniprot.org/uniprot/A0A1W2PQK0", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A1W2PQK0-1", "url": "https://www.uniprot.org/uniprot/A0A1W2PQK0-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O43819", "url": "https://www.uniprot.org/uniprot/O43819", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O43819-1", "url": "https://www.uniprot.org/uniprot/O43819-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MLLLTRSPTAWHRLSQLKPRVLPGTLGGQALHLRSWLLSRQGPAETGGQGQPQGPGLRTRLLITGLFGAGLGGAWLALRAEKERLQQQKRTEALRQAAVGQGDFHLLDHRGRARCKADFRGQWVLMYFGFTHCPDICPDELEKLVQVVRQLEAEPGLPPVQPVFITVDPERDDVEAMARYVQDFHPRLLGLTGSTKQVAQASHSYRVYYNAGPKDEDQDYIVDHSIAIYLLNPDGLFTDYYGRSRSAEQISDSVRRHMAAFRSVLS", "length": 266, "header": "sp|O43819-1|SCO2_HUMAN Isoform 1 of Protein SCO2 homolog, mitochondrial OS=Homo sapiens OX=9606 GN=SCO2 PE=1 SV=3 CANONICAL=O43819-1" }, "isoforms": [ { "isoform_ac": "A0A1W2PQK0-1", "url": "", "sequence": { "sequence": "MLLLTRSPTAWHRLSQLKPRVLPGTLGGQALHLRSWLLSRQGPAETGGQGQPQGPGLRTRLLITGLFGAGLGGAWLALRAEKERLQQQKRTEALRQAAVGQGDFHLLDHRGRARCKADFRGQWVLMYFGFTHCPDICPDELEKLVQVVRQLEAEPGLPPVQPVFITVD", "length": 168, "header": "tr|A0A1W2PQK0-1|SCO2_HUMAN Computationally mapped isoform of Protein SCO2 homolog, mitochondrial OS=Homo sapiens OX=9606 GN=SCO2 PE=1 SV=2 CANONICAL=O43819-1" }, "locus": { "chromosome": "22", "start_pos": 50524411, "end_pos": 50523908, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000638598.2", "url": "https://www.ensembl.org/id/ENST00000638598.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000491753.2", "url": "https://www.ensembl.org/id/ENSP00000491753.2" } ] } }, { "isoform_ac": "O43819-1", "url": "", "sequence": { "sequence": "MLLLTRSPTAWHRLSQLKPRVLPGTLGGQALHLRSWLLSRQGPAETGGQGQPQGPGLRTRLLITGLFGAGLGGAWLALRAEKERLQQQKRTEALRQAAVGQGDFHLLDHRGRARCKADFRGQWVLMYFGFTHCPDICPDELEKLVQVVRQLEAEPGLPPVQPVFITVDPERDDVEAMARYVQDFHPRLLGLTGSTKQVAQASHSYRVYYNAGPKDEDQDYIVDHSIAIYLLNPDGLFTDYYGRSRSAEQISDSVRRHMAAFRSVLS", "length": 266, "header": "sp|O43819-1|SCO2_HUMAN Isoform 1 of Protein SCO2 homolog, mitochondrial OS=Homo sapiens OX=9606 GN=SCO2 PE=1 SV=3 CANONICAL=O43819-1" }, "locus": { "chromosome": "22", "start_pos": 50524411, "end_pos": 50523614, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000252785.3", "url": "https://www.ensembl.org/id/ENST00000252785.3" }, { "database": "Ensembl Peptide", "id": "ENSP00000252785.3", "url": "https://www.ensembl.org/id/ENSP00000252785.3" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "", "relation": "attached", "comment": "O-GlcNAcylation", "evidence": [ { "id": "O43819", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O43819" }, { "id": "28510447", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28510447" }, { "id": "37217939", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37217939" } ] } ], "phosphorylation": [], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "Defects in mitochondrial beta-oxidation of fatty acids.", "journal": "Current opinion in lipidology", "date": "1999", "authors": "Wood PA", "evidence": [ { "database": "Reactome", "id": "R-HSA-611105", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-611105" } ], "reference": [ { "type": "PubMed", "id": "10327278", "url": "https://glygen.org/publication/PubMed/10327278" } ] }, { "title": "Importance of glucose-6-phosphate dehydrogenase activity in cell death.", "journal": "The American journal of physiology", "date": "1999", "authors": "Tian WN, Braunstein LD, Apse K, Pang J, Rose M, Tian X, Stanton RC", "evidence": [ { "database": "Reactome", "id": "R-HSA-5628897", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5628897" } ], "reference": [ { "type": "PubMed", "id": "10329961", "url": "https://glygen.org/publication/PubMed/10329961" } ] }, { "title": "Fatal infantile cardioencephalomyopathy with COX deficiency and mutations in SCO2, a COX assembly gene.", "journal": "Nature genetics", "date": "1999", "authors": "Papadopoulou LC, Sue CM, Davidson MM, Tanji K, Nishino I, Sadlock JE, Krishna S, Walker W, Selby J, Glerum DM, Coster RV, Lyon G, Scalais E, Lebel R, Kaplan P, Shanske S, De Vivo DC, Bonilla E, Hirano M, DiMauro S, Schon EA", "evidence": [ { "database": "UniProtKB", "id": "O43819", "url": "https://www.uniprot.org/uniprot/O43819" } ], "reference": [ { "type": "PubMed", "id": "10545952", "url": "https://glygen.org/publication/PubMed/10545952" } ] }, { "title": "A ribonucleotide reductase gene involved in a p53-dependent cell-cycle checkpoint for DNA damage.", "journal": "Nature", "date": "2000", "authors": "Tanaka H, Arakawa H, Yamaguchi T, Shiraishi K, Fukuda S, Matsui K, Takei Y, Nakamura Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-5628897", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5628897" } ], "reference": [ { "type": "PubMed", "id": "10716435", "url": "https://glygen.org/publication/PubMed/10716435" } ] }, { "title": "Human glucose-6-phosphate dehydrogenase: the crystal structure reveals a structural NADP(+) molecule and provides insights into enzyme deficiency.", "journal": "Structure (London, England : 1993)", "date": "2000", "authors": "Au SW, Gover S, Lam VM, Adams MJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-5628897", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5628897" } ], "reference": [ { "type": "PubMed", "id": "10745013", "url": "https://glygen.org/publication/PubMed/10745013" } ] }, { "title": "Mutations in SCO2 are associated with a distinct form of hypertrophic cardiomyopathy and cytochrome c oxidase deficiency.", "journal": "Human molecular genetics", "date": "2000", "authors": "Jaksch M, Ogilvie I, Yao J, Kortenhaus G, Bresser HG, Gerbitz KD, Shoubridge EA", "evidence": [ { "database": "UniProtKB", "id": "O43819", "url": "https://www.uniprot.org/uniprot/O43819" } ], "reference": [ { "type": "PubMed", "id": "10749987", "url": "https://glygen.org/publication/PubMed/10749987" } ] }, { "title": "A ribonucleotide reductase gene is a transcriptional target of p53 and p73.", "journal": "Oncogene", "date": "2000", "authors": "Nakano K, Balint E, Ashcroft M, Vousden KH", "evidence": [ { "database": "Reactome", "id": "R-HSA-5628897", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5628897" } ], "reference": [ { "type": "PubMed", "id": "10980602", "url": "https://glygen.org/publication/PubMed/10980602" } ] }, { "title": "Overexpression of fructose 2,6-bisphosphatase decreases glycolysis and delays cell cycle progression.", "journal": "American journal of physiology. Cell physiology", "date": "2000", "authors": "Perez JX, Roig T, Manzano A, Dalmau M, Boada J, Ventura F, Rosa JL, Bermudez J, Bartrons R", "evidence": [ { "database": "Reactome", "id": "R-HSA-5628897", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5628897" } ], "reference": [ { "type": "PubMed", "id": "11029283", "url": "https://glygen.org/publication/PubMed/11029283" } ] }, { "title": "Cells overexpressing fructose-2,6-bisphosphatase showed enhanced pentose phosphate pathway flux and resistance to oxidative stress.", "journal": "FEBS letters", "date": "2000", "authors": "Boada J, Roig T, Perez X, Gamez A, Bartrons R, Cascante M, Bermudez J", "evidence": [ { "database": "Reactome", "id": "R-HSA-5628897", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5628897" } ], "reference": [ { "type": "PubMed", "id": "11034341", "url": "https://glygen.org/publication/PubMed/11034341" } ] }, { "title": "Structures and proton-pumping strategies of mitochondrial respiratory enzymes.", "journal": "Annual review of biophysics and biomolecular structure", "date": "2001", "authors": "Schultz BE, Chan SI", "evidence": [ { "database": "Reactome", "id": "R-HSA-5628897", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5628897" } ], "reference": [ { "type": "PubMed", "id": "11340051", "url": "https://glygen.org/publication/PubMed/11340051" } ] }, { "title": "Growth factors can influence cell growth and survival through effects on glucose metabolism.", "journal": "Molecular and cellular biology", "date": "2001", "authors": "Vander Heiden MG, Plas DR, Rathmell JC, Fox CJ, Harris MH, Thompson CB", "evidence": [ { "database": "Reactome", "id": "R-HSA-5628897", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5628897" } ], "reference": [ { "type": "PubMed", "id": "11486029", "url": "https://glygen.org/publication/PubMed/11486029" } ] }, { "title": "Regulation of PTEN transcription by p53.", "journal": "Molecular cell", "date": "2001", "authors": "Stambolic V, MacPherson D, Sas D, Lin Y, Snow B, Jang Y, Benchimol S, Mak TW", "evidence": [ { "database": "Reactome", "id": "R-HSA-5628897", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5628897" } ], "reference": [ { "type": "PubMed", "id": "11545734", "url": "https://glygen.org/publication/PubMed/11545734" } ] }, { "title": "Homozygosity (E140K) in SCO2 causes delayed infantile onset of cardiomyopathy and neuropathy.", "journal": "Neurology", "date": "2001", "authors": "Jaksch M, Horvath R, Horn N, Auer DP, Macmillan C, Peters J, Gerbitz KD, Kraegeloh-Mann I, Muntau A, Karcagi V, Kalmanchey R, Lochmuller H, Shoubridge EA, Freisinger P", "evidence": [ { "database": "UniProtKB", "id": "O43819", "url": "https://www.uniprot.org/uniprot/O43819" } ], "reference": [ { "type": "PubMed", "id": "11673586", "url": "https://glygen.org/publication/PubMed/11673586" } ] }, { "title": "Human NADH:ubiquinone oxidoreductase.", "journal": "Journal of bioenergetics and biomembranes", "date": "2001", "authors": "Smeitink J, Sengers R, Trijbels F, van den Heuvel L", "evidence": [ { "database": "Reactome", "id": "R-HSA-611105", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-611105" } ], "reference": [ { "type": "PubMed", "id": "11695836", "url": "https://glygen.org/publication/PubMed/11695836" } ] }, { "title": "p53 regulates cell survival by inhibiting PIK3CA in squamous cell carcinomas.", "journal": "Genes & development", "date": "2002", "authors": "Singh B, Reddy PG, Goberdhan A, Walsh C, Dao S, Ngai I, Chou TC, O-Charoenrat P, Levine AJ, Rao PH, Stoffel A", "evidence": [ { "database": "Reactome", "id": "R-HSA-5628897", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5628897" } ], "reference": [ { "type": "PubMed", "id": "11959846", "url": "https://glygen.org/publication/PubMed/11959846" } ] }, { "title": "Inactivation of human peroxiredoxin I during catalysis as the result of the oxidation of the catalytic site cysteine to cysteine-sulfinic acid.", "journal": "The Journal of biological chemistry", "date": "2002", "authors": "Yang KS, Kang SW, Woo HA, Hwang SC, Chae HZ, Kim K, Rhee SG", "evidence": [ { "database": "Reactome", "id": "R-HSA-5628897", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5628897" } ], "reference": [ { "type": "PubMed", "id": "12161445", "url": "https://glygen.org/publication/PubMed/12161445" } ] }, { "title": "Identification of a novel stress-responsive gene Hi95 involved in regulation of cell viability.", "journal": "Oncogene", "date": "2002", "authors": "Budanov AV, Shoshani T, Faerman A, Zelin E, Kamer I, Kalinski H, Gorodin S, Fishman A, Chajut A, Einat P, Skaliter R, Gudkov AV, Chumakov PM, Feinstein E", "evidence": [ { "database": "Reactome", "id": "R-HSA-5628897", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5628897" } ], "reference": [ { "type": "PubMed", "id": "12203114", "url": "https://glygen.org/publication/PubMed/12203114" } ] }, { "title": "The energy-transducing NADH: quinone oxidoreductase, complex I.", "journal": "Molecular aspects of medicine", "date": "2002", "authors": "Yano T", "evidence": [ { "database": "Reactome", "id": "R-HSA-611105", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-611105" } ], "reference": [ { "type": "PubMed", "id": "12231006", "url": "https://glygen.org/publication/PubMed/12231006" } ] }, { "title": "14-3-3 interacts with the tumor suppressor tuberin at Akt phosphorylation site(s).", "journal": "Cancer research", "date": "2002", "authors": "Liu MY, Cai S, Espejo A, Bedford MT, Walker CL", "evidence": [ { "database": "Reactome", "id": "R-HSA-5628897", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5628897" } ], "reference": [ { "type": "PubMed", "id": "12438239", "url": "https://glygen.org/publication/PubMed/12438239" } ] }, { "title": "REDD1, a developmentally regulated transcriptional target of p63 and p53, links p63 to regulation of reactive oxygen species.", "journal": "Molecular cell", "date": "2002", "authors": "Ellisen LW, Ramsayer KD, Johannessen CM, Yang A, Beppu H, Minda K, Oliner JD, McKeon F, Haber DA", "evidence": [ { "database": "Reactome", "id": "R-HSA-5628897", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5628897" } ], "reference": [ { "type": "PubMed", "id": "12453409", "url": "https://glygen.org/publication/PubMed/12453409" } ] }, { "title": "Peroxiredoxin evolution and the regulation of hydrogen peroxide signaling.", "journal": "Science (New York, N.Y.)", "date": "2003", "authors": "Wood ZA, Poole LB, Karplus PA", "evidence": [ { "database": "Reactome", "id": "R-HSA-5628897", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5628897" } ], "reference": [ { "type": "PubMed", "id": "12714747", "url": "https://glygen.org/publication/PubMed/12714747" } ] }, { "title": "The nuclear encoded subunits of complex I from bovine heart mitochondria.", "journal": "Biochimica et biophysica acta", "date": "2003", "authors": "Hirst J, Carroll J, Fearnley IM, Shannon RJ, Walker JE", "evidence": [ { "database": "Reactome", "id": "R-HSA-611105", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-611105" } ], "reference": [ { "type": "PubMed", "id": "12837546", "url": "https://glygen.org/publication/PubMed/12837546" } ] }, { "title": "Rheb GTPase is a direct target of TSC2 GAP activity and regulates mTOR signaling.", "journal": "Genes & development", "date": "2003", "authors": "Inoki K, Li Y, Xu T, Guan KL", "evidence": [ { "database": "Reactome", "id": "R-HSA-5628897", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5628897" } ], "reference": [ { "type": "PubMed", "id": "12869586", "url": "https://glygen.org/publication/PubMed/12869586" } ] }, { "title": "Tuberous sclerosis complex gene products, Tuberin and Hamartin, control mTOR signaling by acting as a GTPase-activating protein complex toward Rheb.", "journal": "Current biology : CB", "date": "2003", "authors": "Tee AR, Manning BD, Roux PP, Cantley LC, Blenis J", "evidence": [ { "database": "Reactome", "id": "R-HSA-5628897", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5628897" } ], "reference": [ { "type": "PubMed", "id": "12906785", "url": "https://glygen.org/publication/PubMed/12906785" } ] }, { "title": "Carbon monoxide specifically inhibits cytochrome c oxidase of human mitochondrial respiratory chain.", "journal": "Pharmacology & toxicology", "date": "2003", "authors": "Alonso JR, Cardellach F, Lopez S, Casademont J, Miro O", "evidence": [ { "database": "Reactome", "id": "R-HSA-9707564", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9707564" } ], "reference": [ { "type": "PubMed", "id": "12969439", "url": "https://glygen.org/publication/PubMed/12969439" } ] }, { "title": "Saturation kinetics of coenzyme Q in NADH and succinate oxidation in beef heart mitochondria.", "journal": "FEBS letters", "date": "1992", "authors": "Estornell E, Fato R, Castelluccio C, Cavazzoni M, Parenti Castelli G, Lenaz G", "evidence": [ { "database": "Reactome", "id": "R-HSA-611105", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-611105" } ], "reference": [ { "type": "PubMed", "id": "1327877", "url": "https://glygen.org/publication/PubMed/1327877" } ] }, { "title": "On the origin of cancer cells.", "journal": "Science (New York, N.Y.)", "date": "1956", "authors": "WARBURG O", "evidence": [ { "database": "Reactome", "id": "R-HSA-5628897", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5628897" } ], "reference": [ { "type": "PubMed", "id": "13298683", "url": "https://glygen.org/publication/PubMed/13298683" } ] }, { "title": "Enzymes of the human erythrocyte. IV. Phosphoglucose isomerase, purification and properties.", "journal": "The Journal of biological chemistry", "date": "1958", "authors": "TSUBOI KK, ESTRADA J, HUDSON PB", "evidence": [ { "database": "Reactome", "id": "R-HSA-5628897", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5628897" } ], "reference": [ { "type": "PubMed", "id": "13538944", "url": "https://glygen.org/publication/PubMed/13538944" } ] }, { "title": "TSC2 mediates cellular energy response to control cell growth and survival.", "journal": "Cell", "date": "2003", "authors": "Inoki K, Zhu T, Guan KL", "evidence": [ { "database": "Reactome", "id": "R-HSA-5628897", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5628897" } ], "reference": [ { "type": "PubMed", "id": "14651849", "url": "https://glygen.org/publication/PubMed/14651849" } ] }, { "title": "The gross structure of the respiratory complex I: a Lego System.", "journal": "Biochimica et biophysica acta", "date": "2004", "authors": "Friedrich T, Bottcher B", "evidence": [ { "database": "Reactome", "id": "R-HSA-611105", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-611105" } ], "reference": [ { "type": "PubMed", "id": "14741580", "url": "https://glygen.org/publication/PubMed/14741580" } ] }, { "title": "Novel SCO2 mutation (G1521A) presenting as a spinal muscular atrophy type I phenotype.", "journal": "American journal of medical genetics. Part A", "date": "2004", "authors": "Tarnopolsky MA, Bourgeois JM, Fu MH, Kataeva G, Shah J, Simon DK, Mahoney D, Johns D, MacKay N, Robinson BH", "evidence": [ { "database": "UniProtKB", "id": "O43819", "url": "https://www.uniprot.org/uniprot/O43819" } ], "reference": [ { "type": "PubMed", "id": "14994243", "url": "https://glygen.org/publication/PubMed/14994243" } ] }, { "title": "Glucose-6-phosphate dehydrogenase plays a crucial role in protection from redox-stress-induced apoptosis.", "journal": "Cell death and differentiation", "date": "2004", "authors": "Fico A, Paglialunga F, Cigliano L, Abrescia P, Verde P, Martini G, Iaccarino I, Filosa S", "evidence": [ { "database": "Reactome", "id": "R-HSA-5628897", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5628897" } ], "reference": [ { "type": "PubMed", "id": "15044966", "url": "https://glygen.org/publication/PubMed/15044966" } ] }, { "title": "Regeneration of peroxiredoxins by p53-regulated sestrins, homologs of bacterial AhpD.", "journal": "Science (New York, N.Y.)", "date": "2004", "authors": "Budanov AV, Sablina AA, Feinstein E, Koonin EV, Chumakov PM", "evidence": [ { "database": "Reactome", "id": "R-HSA-5628897", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5628897" } ], "reference": [ { "type": "PubMed", "id": "15105503", "url": "https://glygen.org/publication/PubMed/15105503" } ] }, { "title": "Proton pump coupled to cytochrome c oxidase in mitochondria.", "journal": "Nature", "date": "1977", "authors": "Wikstrom MK", "evidence": [ { "database": "Reactome", "id": "R-HSA-5628897", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5628897" } ], "reference": [ { "type": "PubMed", "id": "15223", "url": "https://glygen.org/publication/PubMed/15223" } ] }, { "title": "Human SCO1 and SCO2 have independent, cooperative functions in copper delivery to cytochrome c oxidase.", "journal": "Human molecular genetics", "date": "2004", "authors": "Leary SC, Kaufman BA, Pellecchia G, Guercin GH, Mattman A, Jaksch M, Shoubridge EA", "evidence": [ { "database": "UniProtKB", "id": "O43819", "url": "https://www.uniprot.org/uniprot/O43819" } ], "reference": [ { "type": "PubMed", "id": "15229189", "url": "https://glygen.org/publication/PubMed/15229189" } ] }, { "title": "Structural organization of mitochondrial human complex I: role of the ND4 and ND5 mitochondria-encoded subunits and interaction with prohibitin.", "journal": "The Biochemical journal", "date": "2004", "authors": "Bourges I, Ramus C, Mousson de Camaret B, Beugnot R, Remacle C, Cardol P, Hofhaus G, Issartel JP", "evidence": [ { "database": "Reactome", "id": "R-HSA-611105", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-611105" } ], "reference": [ { "type": "PubMed", "id": "15250827", "url": "https://glygen.org/publication/PubMed/15250827" } ] }, { "title": "Signaling pathways: the benefits of good communication.", "journal": "Current biology : CB", "date": "2004", "authors": "Fisher TL, White MF", "evidence": [ { "database": "Reactome", "id": "R-HSA-5628897", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5628897" } ], "reference": [ { "type": "PubMed", "id": "15589136", "url": "https://glygen.org/publication/PubMed/15589136" } ] }, { "title": "Identification of novel p53 target genes in ionizing radiation response.", "journal": "Cancer research", "date": "2005", "authors": "Jen KY, Cheung VG", "evidence": [ { "database": "Reactome", "id": "R-HSA-5628897", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5628897" } ], "reference": [ { "type": "PubMed", "id": "16140933", "url": "https://glygen.org/publication/PubMed/16140933" } ] }, { "title": "The Saccharomyces cerevisiae COQ10 gene encodes a START domain protein required for function of coenzyme Q in respiration.", "journal": "The Journal of biological chemistry", "date": "2005", "authors": "Barros MH, Johnson A, Gin P, Marbois BN, Clarke CF, Tzagoloff A", "evidence": [ { "database": "Reactome", "id": "R-HSA-611105", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-611105" } ], "reference": [ { "type": "PubMed", "id": "16230336", "url": "https://glygen.org/publication/PubMed/16230336" } ] }, { "title": "A global map of p53 transcription-factor binding sites in the human genome.", "journal": "Cell", "date": "2006", "authors": "Wei CL, Wu Q, Vega VB, Chiu KP, Ng P, Zhang T, Shahab A, Yong HC, Fu Y, Weng Z, Liu J, Zhao XD, Chew JL, Lee YL, Kuznetsov VA, Sung WK, Miller LD, Lim B, Liu ET, Yu Q, Ng HH, Ruan Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-5628897", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5628897" } ], "reference": [ { "type": "PubMed", "id": "16413492", "url": "https://glygen.org/publication/PubMed/16413492" } ] }, { "title": "Identification of STAT3 as a specific substrate of breast tumor kinase.", "journal": "Oncogene", "date": "2006", "authors": "Liu L, Gao Y, Qiu H, Miller WT, Poli V, Reich NC", "evidence": [ { "database": "Reactome", "id": "R-HSA-9707564", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9707564" } ], "reference": [ { "type": "PubMed", "id": "16568091", "url": "https://glygen.org/publication/PubMed/16568091" } ] }, { "title": "Activity of TSC2 is inhibited by AKT-mediated phosphorylation and membrane partitioning.", "journal": "The Journal of cell biology", "date": "2006", "authors": "Cai SL, Tee AR, Short JD, Bergeron JM, Kim J, Shen J, Guo R, Johnson CL, Kiguchi K, Walker CL", "evidence": [ { "database": "Reactome", "id": "R-HSA-5628897", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5628897" } ], "reference": [ { "type": "PubMed", "id": "16636147", "url": "https://glygen.org/publication/PubMed/16636147" } ] }, { "title": "p53 regulates mitochondrial respiration.", "journal": "Science (New York, N.Y.)", "date": "2006", "authors": "Matoba S, Kang JG, Patino WD, Wragg A, Boehm M, Gavrilova O, Hurley PJ, Bunz F, Hwang PM", "evidence": [ { "database": "Reactome", "id": "R-HSA-5628897", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5628897" } ], "reference": [ { "type": "PubMed", "id": "16728594", "url": "https://glygen.org/publication/PubMed/16728594" } ] }, { "title": "Assembly of mitochondrial cytochrome c-oxidase, a complicated and highly regulated cellular process.", "journal": "American journal of physiology. Cell physiology", "date": "2006", "authors": "Fontanesi F, Soto IC, Horn D, Barrientos A", "evidence": [ { "database": "Reactome", "id": "R-HSA-5628897", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5628897" } ], "reference": [ { "type": "PubMed", "id": "16760263", "url": "https://glygen.org/publication/PubMed/16760263" } ] }, { "title": "TIGAR, a p53-inducible regulator of glycolysis and apoptosis.", "journal": "Cell", "date": "2006", "authors": "Bensaad K, Tsuruta A, Selak MA, Vidal MN, Nakano K, Bartrons R, Gottlieb E, Vousden KH", "evidence": [ { "database": "Reactome", "id": "R-HSA-5628897", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5628897" } ], "reference": [ { "type": "PubMed", "id": "16839880", "url": "https://glygen.org/publication/PubMed/16839880" } ] }, { "title": "The human cytochrome c oxidase assembly factors SCO1 and SCO2 have regulatory roles in the maintenance of cellular copper homeostasis.", "journal": "Cell metabolism", "date": "2007", "authors": "Leary SC, Cobine PA, Kaufman BA, Guercin GH, Mattman A, Palaty J, Lockitch G, Winge DR, Rustin P, Horvath R, Shoubridge EA", "evidence": [ { "database": "UniProtKB", "id": "O43819", "url": "https://www.uniprot.org/uniprot/O43819" } ], "reference": [ { "type": "PubMed", "id": "17189203", "url": "https://glygen.org/publication/PubMed/17189203" } ] }, { "title": "Carbon monoxide signals via inhibition of cytochrome c oxidase and generation of mitochondrial reactive oxygen species.", "journal": "FASEB journal : official publication of the Federation of American Societies for Experimental Biology", "date": "2007", "authors": "Zuckerbraun BS, Chin BY, Bilban M, d'Avila JC, Rao J, Billiar TR, Otterbein LE", "evidence": [ { "database": "Reactome", "id": "R-HSA-9707564", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9707564" } ], "reference": [ { "type": "PubMed", "id": "17264172", "url": "https://glygen.org/publication/PubMed/17264172" } ] }, { "title": "Biogenesis of eukaryotic cytochrome c oxidase.", "journal": "Physiological research", "date": "2006", "authors": "Stiburek L, Hansikova H, Tesarova M, Cerna L, Zeman J", "evidence": [ { "database": "Reactome", "id": "R-HSA-5628897", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5628897" } ], "reference": [ { "type": "PubMed", "id": "17298220", "url": "https://glygen.org/publication/PubMed/17298220" } ] }, { "title": "Mutation of RRM2B, encoding p53-controlled ribonucleotide reductase (p53R2), causes severe mitochondrial DNA depletion.", "journal": "Nature genetics", "date": "2007", "authors": "Bourdon A, Minai L, Serre V, Jais JP, Sarzi E, Aubert S, Chretien D, de Lonlay P, Paquis-Flucklinger V, Arakawa H, Nakamura Y, Munnich A, Rotig A", "evidence": [ { "database": "Reactome", "id": "R-HSA-5628897", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5628897" } ], "reference": [ { "type": "PubMed", "id": "17486094", "url": "https://glygen.org/publication/PubMed/17486094" } ] }, { "title": "NGF-mediated transcriptional targets of p53 in PC12 neuronal differentiation.", "journal": "BMC genomics", "date": "2007", "authors": "Brynczka C, Labhart P, Merrick BA", "evidence": [ { "database": "Reactome", "id": "R-HSA-5628897", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5628897" } ], "reference": [ { "type": "PubMed", "id": "17540029", "url": "https://glygen.org/publication/PubMed/17540029" } ] }, { "title": "A structural characterization of human SCO2.", "journal": "Structure", "date": "2007", "authors": "Banci L, Bertini I, Ciofi-Baffoni S, Gerothanassis IP, Leontari I, Martinelli M, Wang S", "evidence": [ { "database": "UniProtKB", "id": "O43819", "url": "https://www.uniprot.org/uniprot/O43819" } ], "reference": [ { "type": "PubMed", "id": "17850752", "url": "https://glygen.org/publication/PubMed/17850752" } ] }, { "title": "Hypoxia regulates TSC1/2-mTOR signaling and tumor suppression through REDD1-mediated 14-3-3 shuttling.", "journal": "Genes & development", "date": "2008", "authors": "DeYoung MP, Horak P, Sofer A, Sgroi D, Ellisen LW", "evidence": [ { "database": "Reactome", "id": "R-HSA-5628897", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5628897" } ], "reference": [ { "type": "PubMed", "id": "18198340", "url": "https://glygen.org/publication/PubMed/18198340" } ] }, { "title": "Synaptic NMDA receptor activity boosts intrinsic antioxidant defenses.", "journal": "Nature neuroscience", "date": "2008", "authors": "Papadia S, Soriano FX, Leveille F, Martel MA, Dakin KA, Hansen HH, Kaindl A, Sifringer M, Fowler J, Stefovska V, McKenzie G, Craigon M, Corriveau R, Ghazal P, Horsburgh K, Yankner BA, Wyllie DJ, Ikonomidou C, Hardingham GE", "evidence": [ { "database": "Reactome", "id": "R-HSA-5628897", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5628897" } ], "reference": [ { "type": "PubMed", "id": "18344994", "url": "https://glygen.org/publication/PubMed/18344994" } ] }, { "title": "Possible molecular mechanisms of the protonmotive function of cytochrome systems.", "journal": "Journal of theoretical biology", "date": "1976", "authors": "Mitchell P", "evidence": [ { "database": "Reactome", "id": "R-HSA-611105", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-611105" } ], "reference": [ { "type": "PubMed", "id": "186667", "url": "https://glygen.org/publication/PubMed/186667" } ] }, { "title": "p53 target genes sestrin1 and sestrin2 connect genotoxic stress and mTOR signaling.", "journal": "Cell", "date": "2008", "authors": "Budanov AV, Karin M", "evidence": [ { "database": "Reactome", "id": "R-HSA-5628897", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5628897" } ], "reference": [ { "type": "PubMed", "id": "18692468", "url": "https://glygen.org/publication/PubMed/18692468" } ] }, { "title": "Sestrin 2 is not a reductase for cysteine sulfinic acid of peroxiredoxins.", "journal": "Antioxidants & redox signaling", "date": "2009", "authors": "Woo HA, Bae SH, Park S, Rhee SG", "evidence": [ { "database": "Reactome", "id": "R-HSA-5628897", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5628897" } ], "reference": [ { "type": "PubMed", "id": "19113821", "url": "https://glygen.org/publication/PubMed/19113821" } ] }, { "title": "Human SCO2 is required for the synthesis of CO II and as a thiol-disulphide oxidoreductase for SCO1.", "journal": "Human molecular genetics", "date": "2009", "authors": "Leary SC, Sasarman F, Nishimura T, Shoubridge EA", "evidence": [ { "database": "UniProtKB", "id": "O43819", "url": "https://www.uniprot.org/uniprot/O43819" } ], "reference": [ { "type": "PubMed", "id": "19336478", "url": "https://glygen.org/publication/PubMed/19336478" } ] }, { "title": "A novel homozygous SCO2 mutation, p.G193S, causing fatal infantile cardioencephalomyopathy.", "journal": "Clinical neuropathology", "date": "2009", "authors": "Mobley BC, Enns GM, Wong LJ, Vogel H", "evidence": [ { "database": "UniProtKB", "id": "O43819", "url": "https://www.uniprot.org/uniprot/O43819" } ], "reference": [ { "type": "PubMed", "id": "19353847", "url": "https://glygen.org/publication/PubMed/19353847" } ] }, { "title": "p53 regulates mtDNA copy number and mitocheckpoint pathway.", "journal": "Journal of carcinogenesis", "date": "2009", "authors": "Kulawiec M, Ayyasamy V, Singh KK", "evidence": [ { "database": "Reactome", "id": "R-HSA-5628897", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5628897" } ], "reference": [ { "type": "PubMed", "id": "19439913", "url": "https://glygen.org/publication/PubMed/19439913" } ] }, { "title": "The PTEN-regulating microRNA miR-26a is amplified in high-grade glioma and facilitates gliomagenesis in vivo.", "journal": "Genes & development", "date": "2009", "authors": "Huse JT, Brennan C, Hambardzumyan D, Wee B, Pena J, Rouhanifard SH, Sohn-Lee C, le Sage C, Agami R, Tuschl T, Holland EC", "evidence": [ { "database": "Reactome", "id": "R-HSA-5628897", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5628897" } ], "reference": [ { "type": "PubMed", "id": "19487573", "url": "https://glygen.org/publication/PubMed/19487573" } ] }, { "title": "Limited role for the bilirubin-biliverdin redox amplification cycle in the cellular antioxidant protection by biliverdin reductase.", "journal": "The Journal of biological chemistry", "date": "2009", "authors": "Maghzal GJ, Leck MC, Collinson E, Li C, Stocker R", "evidence": [ { "database": "Reactome", "id": "R-HSA-9707564", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9707564" } ], "reference": [ { "type": "PubMed", "id": "19690164", "url": "https://glygen.org/publication/PubMed/19690164" } ] }, { "title": "Role of sestrin2 in peroxide signaling in macrophages.", "journal": "FEBS letters", "date": "2009", "authors": "Essler S, Dehne N, Brune B", "evidence": [ { "database": "Reactome", "id": "R-HSA-5628897", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5628897" } ], "reference": [ { "type": "PubMed", "id": "19822145", "url": "https://glygen.org/publication/PubMed/19822145" } ] }, { "title": "Biopreservation of red blood cells--the struggle with hemoglobin oxidation.", "journal": "The FEBS journal", "date": "2010", "authors": "Kanias T, Acker JP", "evidence": [ { "database": "Reactome", "id": "R-HSA-9707564", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9707564" } ], "reference": [ { "type": "PubMed", "id": "19968714", "url": "https://glygen.org/publication/PubMed/19968714" } ] }, { "title": "Integrative genome analysis reveals an oncomir/oncogene cluster regulating glioblastoma survivorship.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2010", "authors": "Kim H, Huang W, Jiang X, Pennicooke B, Park PJ, Johnson MD", "evidence": [ { "database": "Reactome", "id": "R-HSA-5628897", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5628897" } ], "reference": [ { "type": "PubMed", "id": "20080666", "url": "https://glygen.org/publication/PubMed/20080666" } ] }, { "title": "p53 regulation of the IGF-1/AKT/mTOR pathways and the endosomal compartment.", "journal": "Cold Spring Harbor perspectives in biology", "date": "2010", "authors": "Feng Z", "evidence": [ { "database": "Reactome", "id": "R-HSA-5628897", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5628897" } ], "reference": [ { "type": "PubMed", "id": "20182617", "url": "https://glygen.org/publication/PubMed/20182617" } ] }, { "title": "Phosphate-activated glutaminase (GLS2), a p53-inducible regulator of glutamine metabolism and reactive oxygen species.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2010", "authors": "Suzuki S, Tanaka T, Poyurovsky MV, Nagano H, Mayama T, Ohkubo S, Lokshin M, Hosokawa H, Nakayama T, Suzuki Y, Sugano S, Sato E, Nagao T, Yokote K, Tatsuno I, Prives C", "evidence": [ { "database": "Reactome", "id": "R-HSA-5628897", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5628897" } ], "reference": [ { "type": "PubMed", "id": "20351271", "url": "https://glygen.org/publication/PubMed/20351271" } ] }, { "title": "Glutaminase 2, a novel p53 target gene regulating energy metabolism and antioxidant function.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2010", "authors": "Hu W, Zhang C, Wu R, Sun Y, Levine A, Feng Z", "evidence": [ { "database": "Reactome", "id": "R-HSA-5628897", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5628897" } ], "reference": [ { "type": "PubMed", "id": "20378837", "url": "https://glygen.org/publication/PubMed/20378837" } ] }, { "title": "Interactions of STAP-2 with Brk and STAT3 participate in cell growth of human breast cancer cells.", "journal": "The Journal of biological chemistry", "date": "2010", "authors": "Ikeda O, Sekine Y, Mizushima A, Nakasuji M, Miyasaka Y, Yamamoto C, Muromoto R, Nanbo A, Oritani K, Yoshimura A, Matsuda T", "evidence": [ { "database": "Reactome", "id": "R-HSA-9707564", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9707564" } ], "reference": [ { "type": "PubMed", "id": "20929863", "url": "https://glygen.org/publication/PubMed/20929863" } ] }, { "title": "Physical exercise regulates p53 activity targeting SCO2 and increases mitochondrial COX biogenesis in cardiac muscle with age.", "journal": "PloS one", "date": "2011", "authors": "Qi Z, He J, Su Y, He Q, Liu J, Yu L, Al-Attas O, Hussain T, Ding S, Ji L, Qian M", "evidence": [ { "database": "Reactome", "id": "R-HSA-5628897", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5628897" } ], "reference": [ { "type": "PubMed", "id": "21750704", "url": "https://glygen.org/publication/PubMed/21750704" } ] }, { "title": "Biogenesis and assembly of eukaryotic cytochrome c oxidase catalytic core.", "journal": "Biochimica et biophysica acta", "date": "2012", "authors": "Soto IC, Fontanesi F, Liu J, Barrientos A", "evidence": [ { "database": "Reactome", "id": "R-HSA-5628897", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5628897" } ], "reference": [ { "type": "PubMed", "id": "21958598", "url": "https://glygen.org/publication/PubMed/21958598" } ] }, { "title": "Sestrin2 modulates AMPK subunit expression and its response to ionizing radiation in breast cancer cells.", "journal": "PloS one", "date": "2012", "authors": "Sanli T, Linher-Melville K, Tsakiridis T, Singh G", "evidence": [ { "database": "Reactome", "id": "R-HSA-5628897", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5628897" } ], "reference": [ { "type": "PubMed", "id": "22363791", "url": "https://glygen.org/publication/PubMed/22363791" } ] }, { "title": "Carbon monoxide promotes respiratory hemoproteins iron reduction using peroxides as electron donors.", "journal": "PloS one", "date": "2012", "authors": "Sher EA, Shaklai M, Shaklai N", "evidence": [ { "database": "Reactome", "id": "R-HSA-9707564", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9707564" } ], "reference": [ { "type": "PubMed", "id": "22427940", "url": "https://glygen.org/publication/PubMed/22427940" } ] }, { "title": "NDUFA4 is a subunit of complex IV of the mammalian electron transport chain.", "journal": "Cell metabolism", "date": "2012", "authors": "Balsa E, Marco R, Perales-Clemente E, Szklarczyk R, Calvo E, Landazuri MO, Enriquez JA", "evidence": [ { "database": "Reactome", "id": "R-HSA-5628897", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5628897" } ], "reference": [ { "type": "PubMed", "id": "22902835", "url": "https://glygen.org/publication/PubMed/22902835" } ] }, { "title": "A conserved START domain coenzyme Q-binding polypeptide is required for efficient Q biosynthesis, respiratory electron transport, and antioxidant function in Saccharomyces cerevisiae.", "journal": "Biochimica et biophysica acta", "date": "2013", "authors": "Allan CM, Hill S, Morvaridi S, Saiki R, Johnson JS, Liau WS, Hirano K, Kawashima T, Ji Z, Loo JA, Shepherd JN, Clarke CF", "evidence": [ { "database": "Reactome", "id": "R-HSA-611105", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-611105" } ], "reference": [ { "type": "PubMed", "id": "23270816", "url": "https://glygen.org/publication/PubMed/23270816" } ] }, { "title": "Molecular chaperone TRAP1 regulates a metabolic switch between mitochondrial respiration and aerobic glycolysis.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2013", "authors": "Yoshida S, Tsutsumi S, Muhlebach G, Sourbier C, Lee MJ, Lee S, Vartholomaiou E, Tatokoro M, Beebe K, Miyajima N, Mohney RP, Chen Y, Hasumi H, Xu W, Fukushima H, Nakamura K, Koga F, Kihara K, Trepel J, Picard D, Neckers L", "evidence": [ { "database": "Reactome", "id": "R-HSA-611105", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-611105" } ], "reference": [ { "type": "PubMed", "id": "23564345", "url": "https://glygen.org/publication/PubMed/23564345" } ] }, { "title": "Mutations in SCO2 are associated with autosomal-dominant high-grade myopia.", "journal": "American journal of human genetics", "date": "2013", "authors": "Tran-Viet KN, Powell C, Barathi VA, Klemm T, Maurer-Stroh S, Limviphuvadh V, Soler V, Ho C, Yanovitch T, Schneider G, Li YJ, Nading E, Metlapally R, Saw SM, Goh L, Rozen S, Young TL", "evidence": [ { "database": "UniProtKB", "id": "O43819", "url": "https://www.uniprot.org/uniprot/O43819" } ], "reference": [ { "type": "PubMed", "id": "23643385", "url": "https://glygen.org/publication/PubMed/23643385" } ] }, { "title": "NDUFA4 mutations underlie dysfunction of a cytochrome c oxidase subunit linked to human neurological disease.", "journal": "Cell reports", "date": "2013", "authors": "Pitceathly RD, Rahman S, Wedatilake Y, Polke JM, Cirak S, Foley AR, Sailer A, Hurles ME, Stalker J, Hargreaves I, Woodward CE, Sweeney MG, Muntoni F, Houlden H, Taanman JW, Hanna MG", "evidence": [ { "database": "Reactome", "id": "R-HSA-5628897", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5628897" } ], "reference": [ { "type": "PubMed", "id": "23746447", "url": "https://glygen.org/publication/PubMed/23746447" } ] }, { "title": "The mitochondrial chaperone TRAP1 promotes neoplastic growth by inhibiting succinate dehydrogenase.", "journal": "Cell metabolism", "date": "2013", "authors": "Sciacovelli M, Guzzo G, Morello V, Frezza C, Zheng L, Nannini N, Calabrese F, Laudiero G, Esposito F, Landriscina M, Defilippi P, Bernardi P, Rasola A", "evidence": [ { "database": "Reactome", "id": "R-HSA-611105", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-611105" } ], "reference": [ { "type": "PubMed", "id": "23747254", "url": "https://glygen.org/publication/PubMed/23747254" } ] }, { "title": "Diverse stresses dramatically alter genome-wide p53 binding and transactivation landscape in human cancer cells.", "journal": "Nucleic acids research", "date": "2013", "authors": "Menendez D, Nguyen TA, Freudenberg JM, Mathew VJ, Anderson CW, Jothi R, Resnick MA", "evidence": [ { "database": "Reactome", "id": "R-HSA-5628897", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5628897" } ], "reference": [ { "type": "PubMed", "id": "23775793", "url": "https://glygen.org/publication/PubMed/23775793" } ] }, { "title": "Protonmotive redox mechanism of the cytochrome b-c1 complex in the respiratory chain: protonmotive ubiquinone cycle.", "journal": "FEBS letters", "date": "1975", "authors": "Mitchell P", "evidence": [ { "database": "Reactome", "id": "R-HSA-611105", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-611105" } ], "reference": [ { "type": "PubMed", "id": "239860", "url": "https://glygen.org/publication/PubMed/239860" } ] }, { "title": "Glucose-6-phosphate dehydrogenase: a biomarker and potential therapeutic target for cancer.", "journal": "Anti-cancer agents in medicinal chemistry", "date": "2014", "authors": "Zhang C, Zhang Z, Zhu Y, Qin S", "evidence": [ { "database": "Reactome", "id": "R-HSA-5628897", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5628897" } ], "reference": [ { "type": "PubMed", "id": "24066844", "url": "https://glygen.org/publication/PubMed/24066844" } ] }, { "title": "p53/TAp63 and AKT regulate mammalian target of rapamycin complex 1 (mTORC1) signaling through two independent parallel pathways in the presence of DNA damage.", "journal": "The Journal of biological chemistry", "date": "2014", "authors": "Cam M, Bid HK, Xiao L, Zambetti GP, Houghton PJ, Cam H", "evidence": [ { "database": "Reactome", "id": "R-HSA-5628897", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5628897" } ], "reference": [ { "type": "PubMed", "id": "24366874", "url": "https://glygen.org/publication/PubMed/24366874" } ] }, { "title": "TIGAR, TIGAR, burning bright.", "journal": "Cancer & metabolism", "date": "2014", "authors": "Lee P, Vousden KH, Cheung EC", "evidence": [ { "database": "Reactome", "id": "R-HSA-5628897", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5628897" } ], "reference": [ { "type": "PubMed", "id": "24383451", "url": "https://glygen.org/publication/PubMed/24383451" } ] }, { "title": "Human COX20 cooperates with SCO1 and SCO2 to mature COX2 and promote the assembly of cytochrome c oxidase.", "journal": "Hum. Mol. Genet.", "date": "2014", "authors": "Bourens M, Boulet A, Leary SC, Barrientos A", "evidence": [ { "database": "UniProtKB", "id": "O43819", "url": "https://www.uniprot.org/uniprot/O43819" } ], "reference": [ { "type": "PubMed", "id": "24403053", "url": "https://glygen.org/publication/PubMed/24403053" } ] }, { "title": "The tumor suppressor PTEN interacts with p53 in hereditary cancer (Review).", "journal": "International journal of oncology", "date": "2014", "authors": "Nakanishi A, Kitagishi Y, Ogura Y, Matsuda S", "evidence": [ { "database": "Reactome", "id": "R-HSA-5628897", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5628897" } ], "reference": [ { "type": "PubMed", "id": "24718924", "url": "https://glygen.org/publication/PubMed/24718924" } ] }, { "title": "Detection of mutations in LRPAP1, CTSH, LEPREL1, ZNF644, SLC39A5, and SCO2 in 298 families with early-onset high myopia by exome sequencing.", "journal": "Investigative ophthalmology & visual science", "date": "2014", "authors": "Jiang D, Li J, Xiao X, Li S, Jia X, Sun W, Guo X, Zhang Q", "evidence": [ { "database": "UniProtKB", "id": "O43819", "url": "https://www.uniprot.org/uniprot/O43819" } ], "reference": [ { "type": "PubMed", "id": "25525168", "url": "https://glygen.org/publication/PubMed/25525168" } ] }, { "title": "Inhibition of succinate dehydrogenase by the mitochondrial chaperone TRAP1 has anti-oxidant and anti-apoptotic effects on tumor cells.", "journal": "Oncotarget", "date": "2014", "authors": "Guzzo G, Sciacovelli M, Bernardi P, Rasola A", "evidence": [ { "database": "Reactome", "id": "R-HSA-611105", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-611105" } ], "reference": [ { "type": "PubMed", "id": "25564869", "url": "https://glygen.org/publication/PubMed/25564869" } ] }, { "title": "Peroxiredoxin 1 promotes tumorigenesis through regulating the activity of mTOR/p70S6K pathway in esophageal squamous cell carcinoma.", "journal": "Medical oncology (Northwood, London, England)", "date": "2015", "authors": "Gong F, Hou G, Liu H, Zhang M", "evidence": [ { "database": "Reactome", "id": "R-HSA-5628897", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5628897" } ], "reference": [ { "type": "PubMed", "id": "25579166", "url": "https://glygen.org/publication/PubMed/25579166" } ] }, { "title": "Cooperation between COA6 and SCO2 in COX2 maturation during cytochrome c oxidase assembly links two mitochondrial cardiomyopathies.", "journal": "Cell metabolism", "date": "2015", "authors": "Pacheu-Grau D, Bareth B, Dudek J, Juris L, Vogtle FN, Wissel M, Leary SC, Dennerlein S, Rehling P, Deckers M", "evidence": [ { "database": "UniProtKB", "id": "O43819", "url": "https://www.uniprot.org/uniprot/O43819" } ], "reference": [ { "type": "PubMed", "id": "25959673", "url": "https://glygen.org/publication/PubMed/25959673" } ] }, { "title": "Novel therapeutic interventions for p53-altered tumors through manipulation of its family members, p63 and p73.", "journal": "Cell cycle (Georgetown, Tex.)", "date": "2016", "authors": "Venkatanarayan A, Raulji P, Norton W, Flores ER", "evidence": [ { "database": "Reactome", "id": "R-HSA-5628897", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5628897" } ], "reference": [ { "type": "PubMed", "id": "26652033", "url": "https://glygen.org/publication/PubMed/26652033" } ] }, { "title": "A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies.", "journal": "PLoS genetics", "date": "2016", "authors": "Kohda M, Tokuzawa Y, Kishita Y, Nyuzuki H, Moriyama Y, Mizuno Y, Hirata T, Yatsuka Y, Yamashita-Sugahara Y, Nakachi Y, Kato H, Okuda A, Tamaru S, Borna NN, Banshoya K, Aigaki T, Sato-Miyata Y, Ohnuma K, Suzuki T, Nagao A, Maehata H, Matsuda F, Higasa K, Nagasaki M, Yasuda J, Yamamoto M, Fushimi T, Shimura M, Kaiho-Ichimoto K, Harashima H, Yamazaki T, Mori M, Murayama K, Ohtake A, Okazaki Y", "evidence": [ { "database": "UniProtKB", "id": "O43819", "url": "https://www.uniprot.org/uniprot/O43819" } ], "reference": [ { "type": "PubMed", "id": "26741492", "url": "https://glygen.org/publication/PubMed/26741492" } ] }, { "title": "Human mitochondrial cytochrome c oxidase assembly factor COX18 acts transiently as a membrane insertase within the subunit 2 maturation module.", "journal": "J. Biol. Chem.", "date": "2017", "authors": "Bourens M, Barrientos A", "evidence": [ { "database": "UniProtKB", "id": "O43819", "url": "https://www.uniprot.org/uniprot/O43819" } ], "reference": [ { "type": "PubMed", "id": "28330871", "url": "https://glygen.org/publication/PubMed/28330871" } ] }, { "title": "Synthesis of a Highly Azide-Reactive and Thermosensitive Biofunctional Reagent for Efficient Enrichment and Large-Scale Identification of O-GlcNAc Proteins by Mass Spectrometry.", "journal": "Analytical chemistry", "date": "2017", "authors": "Zhang W, Liu T, Dong H, Bai H, Tian F, Shi Z, Chen M, Wang J, Qin W, Qian X", "evidence": [ { "database": "O-GlcNAc Database", "id": "O43819", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O43819" } ], "reference": [ { "type": "PubMed", "id": "28510447", "url": "https://glygen.org/publication/PubMed/28510447" } ] }, { "title": "Crystal structure of CO-bound cytochrome c oxidase determined by serial femtosecond X-ray crystallography at room temperature.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2017", "authors": "Ishigami I, Zatsepin NA, Hikita M, Conrad CE, Nelson G, Coe JD, Basu S, Grant TD, Seaberg MH, Sierra RG, Hunter MS, Fromme P, Fromme R, Yeh SR, Rousseau DL", "evidence": [ { "database": "Reactome", "id": "R-HSA-9707564", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9707564" } ], "reference": [ { "type": "PubMed", "id": "28698372", "url": "https://glygen.org/publication/PubMed/28698372" } ] }, { "title": "The mitochondrial TMEM177 associates with COX20 during COX2 biogenesis.", "journal": "Biochim. Biophys. Acta", "date": "2017", "authors": "Lorenzi I, Oeljeklaus S, Aich A, Ronsor C, Callegari S, Dudek J, Warscheid B, Dennerlein S, Rehling P", "evidence": [ { "database": "UniProtKB", "id": "O43819", "url": "https://www.uniprot.org/uniprot/O43819" } ], "reference": [ { "type": "PubMed", "id": "29154948", "url": "https://glygen.org/publication/PubMed/29154948" } ] }, { "title": "High expression of synthesis of cytochrome c oxidase 2 and TP53-induced glycolysis and apoptosis regulator can predict poor prognosis in human lung adenocarcinoma.", "journal": "Human pathology", "date": "2018", "authors": "Liu J, Lu F, Gong Y, Zhao C, Pan Q, Ballantyne S, Zhao X, Tian S, Chen H", "evidence": [ { "database": "RefSeq", "id": "NP_001162580", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001162580" } ], "reference": [ { "type": "PubMed", "id": "29634976", "url": "https://glygen.org/publication/PubMed/29634976" } ] }, { "title": "Systemic Mitochondrial Oxidative Phosphorylation Protein Levels Correlate with Neuroimaging Measures in Chronically HIV-Infected Individuals.", "journal": "AIDS research and human retroviruses", "date": "2020", "authors": "Kallianpur KJ, Walker M, Gerschenson M, Shikuma CM, Gangcuangco LMA, Kohorn L, Libutti DE, Nir TM, Jahanshad N, Thompson PM, Paul R", "evidence": [ { "database": "RefSeq", "id": "NP_001162580", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001162580" } ], "reference": [ { "type": "PubMed", "id": "31617381", "url": "https://glygen.org/publication/PubMed/31617381" } ] }, { "title": "Carbon monoxide binding to human hemoglobin A0.", "journal": "Biochemistry", "date": "1987", "authors": "Di Cera E, Doyle ML, Connelly PR, Gill SJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-9707564", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9707564" } ], "reference": [ { "type": "PubMed", "id": "3427020", "url": "https://glygen.org/publication/PubMed/3427020" } ] }, { "title": "TCF19 and p53 regulate transcription of TIGAR and SCO2 in HCC for mitochondrial energy metabolism and stress adaptation.", "journal": "FASEB journal : official publication of the Federation of American Societies for Experimental Biology", "date": "2021", "authors": "Mondal P, Gadad SS, Adhikari S, Ramos EI, Sen S, Prasad P, Das C", "evidence": [ { "database": "RefSeq", "id": "NP_001162580", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001162580" } ], "reference": [ { "type": "PubMed", "id": "34369624", "url": "https://glygen.org/publication/PubMed/34369624" } ] }, { "title": "Antioxidant activity of albumin-bound bilirubin.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1987", "authors": "Stocker R, Glazer AN, Ames BN", "evidence": [ { "database": "Reactome", "id": "R-HSA-9707564", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9707564" } ], "reference": [ { "type": "PubMed", "id": "3475708", "url": "https://glygen.org/publication/PubMed/3475708" } ] }, { "title": "Extracellular arginine availability modulates eIF2\u03b1 O-GlcNAcylation and heme oxygenase 1 translation for cellular homeostasis.", "journal": "Journal of biomedical science", "date": "2023-05-22", "authors": "Hung Yu-Wen, Ouyang Ching, Ping Xiaoli, Qi Yue, Wang Yi-Chang, Kung Hsing-Jien, Ann David K", "evidence": [ { "database": "O-GlcNAc Database", "id": "O43819", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O43819" } ], "reference": [ { "type": "PubMed", "id": "37217939", "url": "https://glygen.org/publication/PubMed/37217939" } ] }, { "title": "Studies on the mechanims of oxidative phosphorylation. IX. Effect of cytochrome c on energy-linked processes.", "journal": "The Journal of biological chemistry", "date": "1966", "authors": "MacLennan DH, Lenaz G, Szarkowska L", "evidence": [ { "database": "Reactome", "id": "R-HSA-611105", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-611105" } ], "reference": [ { "type": "PubMed", "id": "4288886", "url": "https://glygen.org/publication/PubMed/4288886" } ] }, { "title": "Enzymic properties of different types of human erythrocyte glucose-6-phosphate dehydrogenase, with characterization of two new genetic variants.", "journal": "The Journal of clinical investigation", "date": "1968", "authors": "Luzzatto L, Afolayan A", "evidence": [ { "database": "Reactome", "id": "R-HSA-5628897", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5628897" } ], "reference": [ { "type": "PubMed", "id": "5666113", "url": "https://glygen.org/publication/PubMed/5666113" } ] }, { "title": "Hemoglobin. A biologic fenton reagent.", "journal": "The Journal of biological chemistry", "date": "1984", "authors": "Sadrzadeh SM, Graf E, Panter SS, Hallaway PE, Eaton JW", "evidence": [ { "database": "Reactome", "id": "R-HSA-9707564", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9707564" } ], "reference": [ { "type": "PubMed", "id": "6094553", "url": "https://glygen.org/publication/PubMed/6094553" } ] }, { "title": "Energy transduction by cytochrome complexes in mitochondrial and bacterial respiration: the enzymology of coupling electron transfer reactions to transmembrane proton translocation.", "journal": "Annual review of biochemistry", "date": "1994", "authors": "Trumpower BL, Gennis RB", "evidence": [ { "database": "Reactome", "id": "R-HSA-5628897", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5628897" } ], "reference": [ { "type": "PubMed", "id": "7979252", "url": "https://glygen.org/publication/PubMed/7979252" } ] }, { "title": "The characterization of gene mutations for human glucose phosphate isomerase deficiency associated with chronic hemolytic anemia.", "journal": "The Journal of clinical investigation", "date": "1994", "authors": "Xu W, Beutler E", "evidence": [ { "database": "Reactome", "id": "R-HSA-5628897", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5628897" } ], "reference": [ { "type": "PubMed", "id": "7989588", "url": "https://glygen.org/publication/PubMed/7989588" } ] }, { "title": "Glucose-6-phosphate dehydrogenase: a `housekeeping` enzyme subject to tissue-specific regulation by hormones, nutrients, and oxidant stress.", "journal": "FASEB journal : official publication of the Federation of American Societies for Experimental Biology", "date": "1994", "authors": "Kletzien RF, Harris PK, Foellmi LA", "evidence": [ { "database": "Reactome", "id": "R-HSA-5628897", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5628897" } ], "reference": [ { "type": "PubMed", "id": "8119488", "url": "https://glygen.org/publication/PubMed/8119488" } ] }, { "title": "cDNA of eight nuclear encoded subunits of NADH:ubiquinone oxidoreductase: human complex I cDNA characterization completed.", "journal": "Biochemical and biophysical research communications", "date": "1998", "authors": "Loeffen JL, Triepels RH, van den Heuvel LP, Schuelke M, Buskens CA, Smeets RJ, Trijbels JM, Smeitink JA", "evidence": [ { "database": "Reactome", "id": "R-HSA-611105", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-611105" } ], "reference": [ { "type": "PubMed", "id": "9878551", "url": "https://glygen.org/publication/PubMed/9878551" } ] }, { "title": "PA26, a novel target of the p53 tumor suppressor and member of the GADD family of DNA damage and growth arrest inducible genes.", "journal": "Oncogene", "date": "1999", "authors": "Velasco-Miguel S, Buckbinder L, Jean P, Gelbert L, Talbott R, Laidlaw J, Seizinger B, Kley N", "evidence": [ { "database": "Reactome", "id": "R-HSA-5628897", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5628897" } ], "reference": [ { "type": "PubMed", "id": "9926927", "url": "https://glygen.org/publication/PubMed/9926927" } ] } ], "pathway": [ { "id": "hsa:9997", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:9997", "resource": "KEGG Pathway" }, { "id": "R-HSA-5628897", "name": "TP53 Regulates Metabolic Genes", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5628897", "resource": "Reactome", "description": "TP53 Regulates Metabolic Genes" }, { "id": "R-HSA-611105", "name": "Respiratory electron transport", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-611105", "resource": "Reactome", "description": "Respiratory electron transport" }, { "id": "R-HSA-9707564", "name": "Cytoprotection by HMOX1", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9707564", "resource": "Reactome", "description": "Cytoprotection by HMOX1" } ], "orthologs": [ { "uniprot_canonical_ac": "Q8VCL2-1", "protein_name": "Protein SCO2 homolog, mitochondrial", "gene_name": "Sco2", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MLLALGPKAWPKLSQFKPLLRISGGETLHRNSRHWAGQGQRQGPGLRTRLLITALFGAGLGWAWLAARAEKEQWRQQQRTEALRQAAVGQGDFSLLDHKGQPRCKADFRGQWVLMYFGFTHCPDICPDELEKLVQVVRKLEAEPDLPLVQPVFITVDPERDDVAAMARYVQEFHPRLLGLTGSTEQVAHASRNYRVYYSAGPKDEDQDYIVDHSIAIYLLNPDGLFTDYYGRSRSAEQIVESIRRHIAAFHSVLP", "length": 255 }, "evidence": [ { "id": "45919707", "url": "http://www.informatics.jax.org/homology/45919707", "database": "MGI" }, { "id": "O43819", "url": "https://omabrowser.org/oma/group/O43819/", "database": "OMA" } ], "common_name": "Mouse" } ], "go_annotation": { "categories": [ { "name": "Cellular Component", "total": 4, "go_terms": [ { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "O43819", "url": "https://www.uniprot.org/uniprot/O43819" } ], "pmid": "" }, { "name": "mitochondrial inner membrane", "id": "GO:0005743", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005743", "evidence": [ { "database": "UniProtKB", "id": "O43819", "url": "https://www.uniprot.org/uniprot/O43819" } ], "pmid": "" }, { "name": "mitochondrial matrix", "id": "GO:0005759", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005759", "evidence": [ { "database": "UniProtKB", "id": "O43819", "url": "https://www.uniprot.org/uniprot/O43819" } ], "pmid": "" }, { "name": "myofibril", "id": "GO:0030016", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030016", "evidence": [ { "database": "UniProtKB", "id": "O43819", "url": "https://www.uniprot.org/uniprot/O43819" } ], "pmid": "" } ] }, { "name": "Molecular Function", "total": 4, "go_terms": [ { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "O43819", "url": "https://www.uniprot.org/uniprot/O43819" } ], "pmid": "" }, { "name": "copper ion binding", "id": "GO:0005507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005507", "evidence": [ { "database": "UniProtKB", "id": "O43819", "url": "https://www.uniprot.org/uniprot/O43819" } ], "pmid": "" }, { "name": "protein-disulfide reductase activity", "id": "GO:0015035", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015035", "evidence": [ { "database": "UniProtKB", "id": "O43819", "url": "https://www.uniprot.org/uniprot/O43819" } ], "pmid": "" }, { "name": "copper chaperone activity", "id": "GO:0016531", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016531", "evidence": [ { "database": "UniProtKB", "id": "O43819", "url": "https://www.uniprot.org/uniprot/O43819" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 7, "go_terms": [ { "name": "in utero embryonic development", "id": "GO:0001701", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001701", "evidence": [ { "database": "UniProtKB", "id": "O43819", "url": "https://www.uniprot.org/uniprot/O43819" } ], "pmid": "" }, { "name": "intracellular copper ion homeostasis", "id": "GO:0006878", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006878", "evidence": [ { "database": "UniProtKB", "id": "O43819", "url": "https://www.uniprot.org/uniprot/O43819" } ], "pmid": "" }, { "name": "response to activity", "id": "GO:0014823", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014823", "evidence": [ { "database": "UniProtKB", "id": "O43819", "url": "https://www.uniprot.org/uniprot/O43819" } ], "pmid": "" }, { "name": "respiratory electron transport chain", "id": "GO:0022904", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022904", "evidence": [ { "database": "UniProtKB", "id": "O43819", "url": "https://www.uniprot.org/uniprot/O43819" } ], "pmid": "" }, { "name": "muscle system process", "id": "GO:0003012", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003012", "evidence": [ { "database": "UniProtKB", "id": "O43819", "url": "https://www.uniprot.org/uniprot/O43819" } ], "pmid": "" }, { "name": "eye development", "id": "GO:0001654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001654", "evidence": [ { "database": "UniProtKB", "id": "O43819", "url": "https://www.uniprot.org/uniprot/O43819" } ], "pmid": "" }, { "name": "mitochondrial cytochrome c oxidase assembly", "id": "GO:0033617", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033617", "evidence": [ { "database": "UniProtKB", "id": "O43819", "url": "https://www.uniprot.org/uniprot/O43819" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [], "ptm_annotation": [], "interactions": [], "reactions": [], "reaction_participants": [], "reaction_enzymes": [], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.mgi", "label": "MGI Homologs" }, { "name": "homologset.oma", "label": "OMA Homologs" } ], "sequence_features": { "n_linked_sites": [], "o_linked_sites": [], "snv_sites": [], "glycation_sites": [], "phosphorylation_sites": [], "sequon_annotation_sites": [] }, "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": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment" ] }, { "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": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment" ] }, { "table_id": "glycosylation_predicted", "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_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": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 109 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }