{ "uniprot_canonical_ac": "O43272-4", "uniprot_ac": "O43272", "uniprot_id": "PROD_HUMAN", "mass": { "chemical_mass": 68002.0, "monoisotopic_mass": 68002.0 }, "refseq": { "ac": "NP_001182155", "name": "proline dehydrogenase 1, mitochondrial isoform 2", "summary": "This gene encodes a mitochondrial protein that catalyzes the first step in proline degradation. Mutations in this gene are associated with hyperprolinemia type 1 and susceptibility to schizophrenia 4 (SCZD4). This gene is located on chromosome 22q11.21, a region which has also been associated with the contiguous gene deletion syndromes, DiGeorge and CATCH22. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2010].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001182155" }, "gene_names": [ { "name": "PRODH", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O43272", "id": "O43272" }, { "name": "HSPOX2; PIG6; POX; PRODH1; PRODH2; TP53I6", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001182155", "id": "NP_001182155" }, { "name": "PIG6", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O43272", "id": "O43272" }, { "name": "POX2", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O43272", "id": "O43272" }, { "name": "PRODH2", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O43272", "id": "O43272" }, { "name": "PRODH", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001182155", "id": "NP_001182155" } ], "protein_names": [ { "name": "Proline dehydrogenase 1, mitochondrial", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O43272" }, { "name": "1.5.5.2", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O43272" }, { "name": "Proline oxidase 2", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O43272" }, { "name": "Proline oxidase", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O43272" }, { "name": "p53-induced gene 6 protein", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O43272" }, { "name": "proline dehydrogenase 1, mitochondrial isoform 2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001182155", "id": "NP_001182155" }, { "name": "tumor protein p53 inducible protein 6; proline oxidase, mitochondrial; proline dehydrogenase 1, mitochondrial; proline oxidase 2; proline dehydrogenase (oxidase) 1; p53-induced gene 6 protein; p53 Inducible gene 6", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001182155", "id": "NP_001182155" } ], "function": [ { "annotation": "Converts proline to delta-1-pyrroline-5-carboxylate.", "evidence": [ { "database": "UniProtKB", "id": "O43272", "url": "https://www.uniprot.org/uniprot/O43272#function" }, { "database": "PubMed", "id": "15662599", "url": "https://glygen.org/publication/PubMed/15662599" } ] }, { "annotation": "Impact of COMT, PRODH and DISC1 Genetic Variants on Cognitive Performance of Patients with Schizophrenia.", "evidence": [ { "database": "RefSeq", "id": "NP_001182155", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001182155" }, { "database": "PubMed", "id": "35367090", "url": "https://glygen.org/publication/PubMed/35367090" } ] }, { "annotation": "Metformin Treatment or PRODH/POX-Knock out Similarly Induces Apoptosis by Reprograming of Amino Acid Metabolism, TCA, Urea Cycle and Pentose Phosphate Pathway in MCF-7 Breast Cancer Cells. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001182155", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001182155" }, { "database": "PubMed", "id": "34944532", "url": "https://glygen.org/publication/PubMed/34944532" } ] }, { "annotation": "Prognostic and immunomodulatory roles of schizophrenia-associated genes HTR2A, COMT, and PRODH in pan-cancer analysis and glioma survival prediction model. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001182155", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001182155" }, { "database": "PubMed", "id": "37564635", "url": "https://glygen.org/publication/PubMed/37564635" } ] }, { "annotation": "Proline Dehydrogenase (PRODH) expression is reduced in human with Heart Failure. PRODH appears to be crucial to sustain normal mitochondrial function and maintenance of ATP levels in human cardiomyocytes in a hypoxic environment, as well as for redox homeostasis in both normoxic and hypoxic conditions. Review article", "evidence": [ { "database": "RefSeq", "id": "NP_001182155", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001182155" }, { "database": "PubMed", "id": "30867130", "url": "https://glygen.org/publication/PubMed/30867130" } ] }, { "annotation": "This gene encodes a mitochondrial protein that catalyzes the first step in proline degradation. Mutations in this gene are associated with hyperprolinemia type 1 and susceptibility to schizophrenia 4 (SCZD4). This gene is located on chromosome 22q11.21, a region which has also been associated with the contiguous gene deletion syndromes, DiGeorge and CATCH22. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2010].", "evidence": [ { "database": "RefSeq", "id": "NP_001182155", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001182155" } ] }, { "annotation": "Understanding the role of key amino acids in regulation of proline dehydrogenase/proline oxidase (prodh/pox)-dependent apoptosis/autophagy as an approach to targeted cancer therapy. Review article", "evidence": [ { "database": "RefSeq", "id": "NP_001182155", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001182155" }, { "database": "PubMed", "id": "31933109", "url": "https://glygen.org/publication/PubMed/31933109" } ] } ], "disease": [ { "disease_id": "DOID:0070080", "recommended_name": { "id": "DOID:0070080", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070080", "name": "schizophrenia 4", "description": "A schizophrenia that has_material_basis_in an autosomal dominant mutation of the PRODH gene on chromosome 22q11.21." }, "synonyms": [ { "id": "DOID:0070080", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070080", "name": "SCZD4", "description": "" }, { "id": "MONDO:0010943", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010943", "name": "schizophrenia 4", "description": "A schizophrenia that has material basis in an autosomal dominant mutation of PRODH on chromosome 22q11.21." }, { "id": "MONDO:0010943", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010943", "name": "SCZD4", "description": "" }, { "id": "MONDO:0010943", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010943", "name": "schizophrenia 4", "description": "" }, { "id": "MONDO:0010943", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010943", "name": "schizophrenia type 4", "description": "" }, { "id": "MONDO:0010943", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010943", "name": "schizophrenia, susceptibility to, 4", "description": "" }, { "id": "MONDO:0010943", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010943", "name": "schizophrenia susceptibility locus, chromosome 22Q11-related", "description": "" }, { "id": "MIM:600850", "resource": "MIM", "url": "https://www.omim.org/entry/600850", "name": "Schizophrenia 4", "description": "Schizophrenia 4" } ], "evidence": [ { "id": "600850", "database": "MIM", "url": "https://www.omim.org/entry/600850" } ] }, { "disease_id": "DOID:0080542", "recommended_name": { "id": "DOID:0080542", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080542", "name": "hyperprolinemia type 1", "description": "A hyperprolinemia that has_material_basis_in homozygous or compound heterozygous mutation in the proline dehydrogenase gene on chromosome 22q11." }, "synonyms": [ { "id": "DOID:0080542", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080542", "name": "hyperprolinemia type I", "description": "" }, { "id": "MONDO:0009400", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009400", "name": "hyperprolinemia type 1", "description": "Hyperprolinaemia type I is an inborn error of proline metabolism characterized by elevated levels of proline in the plasma and urine. The prevalence is unknown. The disorder is generally considered to be benign but associations with renal abnormalities, epileptic seizures, and other neurological manifestations, as well as certain forms of schizophrenia have been reported. It is transmitted as an autosomal recessive trait and is caused by mutations in the proline dehydrogenase or proline oxidase gene (PRODH or POX, 22q11.2)." }, { "id": "MONDO:0009400", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009400", "name": "PRODH hyperprolinemia", "description": "" }, { "id": "MONDO:0009400", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009400", "name": "hyperprolinemia caused by mutation in PRODH", "description": "" }, { "id": "MONDO:0009400", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009400", "name": "hyperprolinemia type 1", "description": "" }, { "id": "MONDO:0009400", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009400", "name": "proline oxidase deficiency", "description": "" }, { "id": "MONDO:0009400", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009400", "name": "HPI", "description": "" }, { "id": "MONDO:0009400", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009400", "name": "HYRPRO1", "description": "" }, { "id": "MONDO:0009400", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009400", "name": "hyperprolinemia, type 1", "description": "" }, { "id": "MONDO:0009400", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009400", "name": "hyperprolinemia, type I", "description": "" }, { "id": "MIM:239500", "resource": "MIM", "url": "https://www.omim.org/entry/239500", "name": "Hyperprolinemia 1", "description": "Hyperprolinemia 1" } ], "evidence": [ { "id": "239500", "database": "MIM", "url": "https://www.omim.org/entry/239500" } ] }, { "disease_id": "DOID:5419", "recommended_name": { "id": "DOID:5419", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5419", "name": "schizophrenia", "description": "A psychotic disorder that is characterized by a disintegration of thought processes and of emotional responsiveness." }, "synonyms": [ { "id": "DOID:5419", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5419", "name": "schizophrenia-1", "description": "" }, { "id": "MONDO:0005090", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005090", "name": "schizophrenia", "description": "A major psychotic disorder characterized by abnormalities in the perception or expression of reality. It affects the cognitive and psychomotor functions. Common clinical signs and symptoms include delusions, hallucinations, disorganized thinking, and retreat from reality." }, { "id": "MONDO:0005090", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005090", "name": "schizophrenia 12", "description": "" }, { "id": "MONDO:0005090", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005090", "name": "schizophrenia", "description": "" }, { "id": "MONDO:0005090", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005090", "name": "schizophrenia (disease)", "description": "" }, { "id": "MONDO:0005090", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005090", "name": "schizophrenia-1", "description": "" }, { "id": "MONDO:0005090", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005090", "name": "SCZD", "description": "" }, { "id": "MONDO:0005090", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005090", "name": "schizoaffective disorder", "description": "" }, { "id": "MONDO:0005090", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005090", "name": "schizophrenia with or without an affective disorder", "description": "" }, { "id": "MONDO:0005090", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005090", "name": "schizophrenia, susceptibility to", "description": "" }, { "id": "MIM:181500", "resource": "MIM", "url": "https://www.omim.org/entry/181500", "name": "Schizophrenia", "description": "Schizophrenia" } ], "evidence": [ { "id": "181500", "database": "MIM", "url": "https://www.omim.org/entry/181500" } ] } ], "snv": [], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "72.43", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000100033", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000100033" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "64.93", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000100033", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000100033" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "85.59", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000100033", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000100033" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "73.43", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000100033", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000100033" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "85.02", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000100033", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000100033" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "84.78", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000100033", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000100033" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "71.29", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000100033", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000100033" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "75.94", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000100033", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000100033" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "80.93", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000100033", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000100033" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "down", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "O43272", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43272" } ], "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": "O43272", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43272" } ], "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", 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"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": "No", "trend": "up", "name": "Urinary bladder cancer 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"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 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"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": "No", "trend": "up", "name": "Head and neck cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "O43272", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43272" } ], "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. 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43272" } ], "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 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"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 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"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": "O43272", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43272" } ], "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": "O43272", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43272" } ], "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": "No", "trend": "up", "name": "Kidney cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:263", "evidence": [ { "database": "BioXpress", "id": "O43272", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43272" } ], "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ] } ] }, { "significant": "No", "trend": "up", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { "database": "BioXpress", "id": "O43272", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43272" } ], "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": 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"categories": [ "Protein Classification" ] }, { "id": "hsa:5625", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:5625", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "181500", "url": "http://www.omim.org/entry/181500", "database": "MIM", "categories": [ "Other" ] }, { "id": "239500", "url": "http://www.omim.org/entry/239500", "database": "MIM", "categories": [ "Other" ] }, { "id": "600850", "url": "http://www.omim.org/entry/600850", "database": "MIM", "categories": [ "Other" ] }, { "id": "606810", "url": "http://www.omim.org/entry/606810", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_O43272", "url": "https://www.nextprot.org/entry/NX_O43272", "database": "neXtProt", "categories": [ "Organism-specific", "Protein" ] }, { "id": "5473051at2759", "url": "http://www.orthodb.org/?query=5473051at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR13914", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR13914", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR13914:SF0", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR13914:SF0", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PF01619", "url": "http://pfam.xfam.org/family/PF01619", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "O43272", "url": "https://pharos.nih.gov/targets/O43272", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_O43272", "url": "http://purl.obolibrary.org/obo/PR_O43272", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-70688", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70688", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_001182155", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001182155", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "23784", "url": "https://www.rhea-db.org/rhea/23784", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "O43272", "url": "https://www.uniprot.org/uniprot/O43272", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O43272-1", "url": "https://www.uniprot.org/uniprot/O43272-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O43272-2", "url": "https://www.uniprot.org/uniprot/O43272-2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O43272-4", "url": "https://www.uniprot.org/uniprot/O43272-4", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MALRRALPALRPCIPRFVQLSTAPASREQPAAGPAAVPGGGSATAVRPPVPAVDFGNAQEAYRSRRTWELARSLLVLRLCAWPALLARHEQLLYVSRKLLGQRLFNKLMKMTFYGHFVAGEDQESIQPLLRHYRAFGVSAILDYGVEEDLSPEEAEHKEMESCTSAAERDGSGTNKRDKQYQAHRAFGDRRNGVISARTYFYANEAKCDSHMETFLRCIEASGRVSDDGFIAIKLTALGRPQFLLQFSEVLAKWRCFFHQMAVEQGQAGLAAMDTKLEVAVLQESVAKLGIASRAEIEDWFTAETLGVSGTMDLLDWSSLIDSRTKLSKHLVVPNAQTGQLEPLLSRFTEEEELQMTRMLQRMDVLAKKATEMGVRLMVDAEQTYFQPAISRLTLEMQRKFNVEKPLIFNTYQCYLKDAYDNVTLDVELARREGWCFGAKLVRGAYLAQERARAAEIGYEDPINPTYEATNAMYHRCLDYVLEELKHNAKAKVMVASHNEDTVRFALRRMEELGLHPADHQVYFGQLLGMCDQISFPLGQAGYPVYKYVPYGPVMEVLPYLSRRALENSSLMKGTHRERQLLWLELLRRLRTGNLFHRPA", "length": 600, "header": "sp|O43272-4|PROD_HUMAN Isoform 4 of Proline dehydrogenase 1, mitochondrial OS=Homo sapiens OX=9606 GN=PRODH PE=1 SV=3 CANONICAL=O43272-4" }, "isoforms": [ { "isoform_ac": "O43272-1", "url": "", "sequence": { "sequence": "MLEFVMREWKKSRKLLGQRLFNKLMKMTFYGHFVAGEDQESIQPLLRHYRAFGVSAILDYGVEEDLSPEEAEHKEMESCTSAAERDGSGTNKRDKQYQAHRAFGDRRNGVISARTYFYANEAKCDSHMETFLRCIEASGRVSDDGFIAIKLTALGRPQFLLQFSEVLAKWRCFFHQMAVEQGQAGLAAMDTKLEVAVLQESVAKLGIASRAEIEDWFTAETLGVSGTMDLLDWSSLIDSRTKLSKHLVVPNAQTGQLEPLLSRFTEEEELQMTRMLQRMDVLAKKATEMGVRLMVDAEQTYFQPAISRLTLEMQRKFNVEKPLIFNTYQCYLKDAYDNVTLDVELARREGWCFGAKLVRGAYLAQERARAAEIGYEDPINPTYEATNAMYHRCLDYVLEELKHNAKAKVMVASHNEDTVRFALRRMEELGLHPADHQVYFGQLLGMCDQISFPLGQAGYPVYKYVPYGPVMEVLPYLSRRALENSSLMKGTHRERQLLWLELLRRLRTGNLFHRPA", "length": 516, "header": "sp|O43272-1|PROD_HUMAN Isoform 1 of Proline dehydrogenase 1, mitochondrial OS=Homo sapiens OX=9606 GN=PRODH PE=1 SV=3 CANONICAL=O43272-4" }, "locus": { "chromosome": "22", "start_pos": 18936287, "end_pos": 18913178, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000357068.11", "url": "https://www.ensembl.org/id/ENST00000357068.11" }, { "database": "Ensembl Peptide", "id": "ENSP00000349577.6", "url": "https://www.ensembl.org/id/ENSP00000349577.6" } ] } }, { "isoform_ac": "O43272-2", "url": "", "sequence": { "sequence": "MKMTFYGHFVAGEDQESIQPLLRHYRAFGVSAILDYGVEEDLSPEEAEHKEMESCTSAAERDGSGTNKRDKQYQAHRAFGDRRNGVISARTYFYANEAKCDSHMETFLRCIEASGRVSDDGFIAIKLTALGRPQFLLQFSEVLAKWRCFFHQMAVEQGQAGLAAMDTKLEVAVLQESVAKLGIASRAEIEDWFTAETLGVSGTMDLLDWSSLIDSRTKLSKHLVVPNAQTGQLEPLLSRFTEEEELQMTRMLQRMDVLAKKATEMGVRLMVDAEQTYFQPAISRLTLEMQRKFNVEKPLIFNTYQCYLKDAYDNVTLDVELARREGWCFGAKLVRGAYLAQERARAAEIGYEDPINPTYEATNAMYHRCLDYVLEELKHNAKAKVMVASHNEDTVRFALRRMEELGLHPADHQVYFGQLLGMCDQISFPLGQAGYPVYKYVPYGPVMEVLPYLSRRALENSSLMKGTHRERQLLWLELLRRLRTGNLFHRPA", "length": 492, "header": "sp|O43272-2|PROD_HUMAN Isoform 2 of Proline dehydrogenase 1, mitochondrial OS=Homo sapiens OX=9606 GN=PRODH PE=1 SV=3 CANONICAL=O43272-4" }, "locus": { "chromosome": "22", "start_pos": 18936287, "end_pos": 18913178, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000357068.11", "url": "https://www.ensembl.org/id/ENST00000357068.11" }, { "database": "Ensembl Peptide", "id": "ENSP00000349577.6", "url": "https://www.ensembl.org/id/ENSP00000349577.6" } ] } }, { "isoform_ac": "O43272-4", "url": "", "sequence": { "sequence": "MALRRALPALRPCIPRFVQLSTAPASREQPAAGPAAVPGGGSATAVRPPVPAVDFGNAQEAYRSRRTWELARSLLVLRLCAWPALLARHEQLLYVSRKLLGQRLFNKLMKMTFYGHFVAGEDQESIQPLLRHYRAFGVSAILDYGVEEDLSPEEAEHKEMESCTSAAERDGSGTNKRDKQYQAHRAFGDRRNGVISARTYFYANEAKCDSHMETFLRCIEASGRVSDDGFIAIKLTALGRPQFLLQFSEVLAKWRCFFHQMAVEQGQAGLAAMDTKLEVAVLQESVAKLGIASRAEIEDWFTAETLGVSGTMDLLDWSSLIDSRTKLSKHLVVPNAQTGQLEPLLSRFTEEEELQMTRMLQRMDVLAKKATEMGVRLMVDAEQTYFQPAISRLTLEMQRKFNVEKPLIFNTYQCYLKDAYDNVTLDVELARREGWCFGAKLVRGAYLAQERARAAEIGYEDPINPTYEATNAMYHRCLDYVLEELKHNAKAKVMVASHNEDTVRFALRRMEELGLHPADHQVYFGQLLGMCDQISFPLGQAGYPVYKYVPYGPVMEVLPYLSRRALENSSLMKGTHRERQLLWLELLRRLRTGNLFHRPA", "length": 600, "header": "sp|O43272-4|PROD_HUMAN Isoform 4 of Proline dehydrogenase 1, mitochondrial OS=Homo sapiens OX=9606 GN=PRODH PE=1 SV=3 CANONICAL=O43272-4" }, "locus": { "chromosome": "22", "start_pos": 18936287, "end_pos": 18913178, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000357068.11", "url": "https://www.ensembl.org/id/ENST00000357068.11" }, { "database": "Ensembl Peptide", "id": "ENSP00000349577.6", "url": "https://www.ensembl.org/id/ENSP00000349577.6" } ] } } ], "glycosylation": [], "phosphorylation": [], "glycation": [], "keywords": [ "enzyme" ], "publication": [ { "title": "The gene encoding proline dehydrogenase modulates sensorimotor gating in mice.", "journal": "Nat. Genet.", "date": "1999", "authors": "Gogos J.A., Karayiorgou M., Beck K.D., Lucas L.R., Luine V., Nadler J.V., Santha M., Takacs Z.", "evidence": [ { "database": "UniProtKB", "id": "O43272", "url": "https://www.uniprot.org/uniprot/O43272" } ], "reference": [ { "type": "PubMed", "id": "10192398", "url": "https://glygen.org/publication/PubMed/10192398" } ] }, { "title": "Genetic variation at the 22q11 PRODH2/DGCR6 locus presents an unusual pattern and increases susceptibility to schizophrenia.", "journal": "Proc. Natl. Acad. Sci. U.S.A.", "date": "2002", "authors": "Liu H, Heath SC, Sobin C, Roos JL, Galke BL, Blundell ML, Lenane M, Robertson B, Wijsman EM, Rapoport JL, Gogos JA, Karayiorgou M", "evidence": [ { "database": "UniProtKB", "id": "O43272", "url": "https://www.uniprot.org/uniprot/O43272" } ], "reference": [ { "type": "PubMed", "id": "11891283", "url": "https://glygen.org/publication/PubMed/11891283" } ] }, { "title": "PRODH mutations and hyperprolinemia in a subset of schizophrenic patients.", "journal": "Hum. Mol. Genet.", "date": "2002", "authors": "Jacquet H, Raux G, Thibaut F, Hecketsweiler B, Houy E, Demilly C, Haouzir S, Allio G, Fouldrin G, Drouin V, Bou J, Petit M, Campion D, Frebourg T", "evidence": [ { "database": "UniProtKB", "id": "O43272", "url": "https://www.uniprot.org/uniprot/O43272" } ], "reference": [ { "type": "PubMed", "id": "12217952", "url": "https://glygen.org/publication/PubMed/12217952" } ] }, { "title": "Functional consequences of PRODH missense mutations.", "journal": "Am. J. Hum. Genet.", "date": "2005", "authors": "Bender HU, Almashanu S, Steel G, Hu CA, Lin WW, Willis A, Pulver A, Valle D", "evidence": [ { "database": "UniProtKB", "id": "O43272", "url": "https://www.uniprot.org/uniprot/O43272" }, { "database": "Reactome", "id": "R-HSA-70688", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70688" } ], "reference": [ { "type": "PubMed", "id": "15662599", "url": "https://glygen.org/publication/PubMed/15662599" } ] }, { "title": "The consensus coding sequences of human breast and colorectal cancers.", "journal": "Science", "date": "2006", "authors": "Sjoblom T, Jones S, Wood LD, Parsons DW, Lin J, Barber TD, Mandelker D, Leary RJ, Ptak J, Silliman N, Szabo S, Buckhaults P, Farrell C, Meeh P, Markowitz SD, Willis J, Dawson D, Willson JK, Gazdar AF, Hartigan J, Wu L, Liu C, Parmigiani G, Park BH, Bachman KE, Papadopoulos N, Vogelstein B, Kinzler KW, Velculescu VE", "evidence": [ { "database": "UniProtKB", "id": "O43272", "url": "https://www.uniprot.org/uniprot/O43272" } ], "reference": [ { "type": "PubMed", "id": "16959974", "url": "https://glygen.org/publication/PubMed/16959974" } ] }, { "title": "Involvement of hyperprolinemia in cognitive and psychiatric features of the 22q11 deletion syndrome.", "journal": "Hum. Mol. Genet.", "date": "2007", "authors": "Raux G, Bumsel E, Hecketsweiler B, van Amelsvoort T, Zinkstok J, Manouvrier-Hanu S, Fantini C, Breviere GM, Di Rosa G, Pustorino G, Vogels A, Swillen A, Legallic S, Bou J, Opolczynski G, Drouin-Garraud V, Lemarchand M, Philip N, Gerard-Desplanches A, Carlier M, Philippe A, Nolen MC, Heron D, Sarda P, Lacombe D, Coizet C, Alembik Y, Layet V, Afenjar A, Hannequin D, Demily C, Petit M, Thibaut F, Frebourg T, Campion D", "evidence": [ { "database": "UniProtKB", "id": "O43272", "url": "https://www.uniprot.org/uniprot/O43272" } ], "reference": [ { "type": "PubMed", "id": "17135275", "url": "https://glygen.org/publication/PubMed/17135275" } ] }, { "title": "Proline dehydrogenase 2 (PRODH2) is a hydroxyproline dehydrogenase (HYPDH) and molecular target for treating primary hyperoxaluria.", "journal": "The Biochemical journal", "date": "2015", "authors": "Summitt CB, Johnson LC, Jonsson TJ, Parsonage D, Holmes RP, Lowther WT", "evidence": [ { "database": "Reactome", "id": "R-HSA-70688", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70688" } ], "reference": [ { "type": "PubMed", "id": "25697095", "url": "https://glygen.org/publication/PubMed/25697095" } ] }, { "title": "Exercise Reveals Proline Dehydrogenase as a Potential Target in Heart Failure.", "journal": "Progress in cardiovascular diseases", "date": "2019", "authors": "Moreira JBN, Wohlwend M, Fenk S, Amellem I, Flatberg A, Kraljevic J, Marinovic J, Ljubkovic M, Bjorkoy G, Wisloff U", "evidence": [ { "database": "RefSeq", "id": "NP_001182155", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001182155" } ], "reference": [ { "type": "PubMed", "id": "30867130", "url": "https://glygen.org/publication/PubMed/30867130" } ] }, { "title": "Understanding the role of key amino acids in regulation of proline dehydrogenase/proline oxidase (prodh/pox)-dependent apoptosis/autophagy as an approach to targeted cancer therapy.", "journal": "Molecular and cellular biochemistry", "date": "2020", "authors": "Huynh TYL, Zareba I, Baszanowska W, Lewoniewska S, Palka J", "evidence": [ { "database": "RefSeq", "id": "NP_001182155", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001182155" } ], "reference": [ { "type": "PubMed", "id": "31933109", "url": "https://glygen.org/publication/PubMed/31933109" } ] }, { "title": "Metformin Treatment or PRODH/POX-Knock out Similarly Induces Apoptosis by Reprograming of Amino Acid Metabolism, TCA, Urea Cycle and Pentose Phosphate Pathway in MCF-7 Breast Cancer Cells.", "journal": "Biomolecules", "date": "2021", "authors": "Huynh TYL, Oscilowska I, Saiz J, Niziol M, Baszanowska W, Barbas C, Palka J", "evidence": [ { "database": "RefSeq", "id": "NP_001182155", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001182155" } ], "reference": [ { "type": "PubMed", "id": "34944532", "url": "https://glygen.org/publication/PubMed/34944532" } ] }, { "title": "Impact of COMT, PRODH and DISC1 Genetic Variants on Cognitive Performance of Patients with Schizophrenia.", "journal": "Archives of medical research", "date": "2022", "authors": "Fricke-Galindo I, Perez-Aldana BE, Macias-Kauffer LR, Gonzalez-Arredondo S, Davila-Ortiz de Montellano D, Avina-Cervantes CL, Lopez-Lopez M, Rodriguez-Agudelo Y, Monroy-Jaramillo N", "evidence": [ { "database": "RefSeq", "id": "NP_001182155", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001182155" } ], "reference": [ { "type": "PubMed", "id": "35367090", "url": "https://glygen.org/publication/PubMed/35367090" } ] }, { "title": "Prognostic and immunomodulatory roles of schizophrenia-associated genes HTR2A, COMT, and PRODH in pan-cancer analysis and glioma survival prediction model.", "journal": "Frontiers in immunology", "date": "2023", "authors": "Shen Jing, Wang Qiang, Lu Fengquan, Xu Hua, Wang Peng, Feng Yu", "evidence": [ { "database": "RefSeq", "id": "NP_001182155", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001182155" } ], "reference": [ { "type": "PubMed", "id": "37564635", "url": "https://glygen.org/publication/PubMed/37564635" } ] }, { "title": "Purification and characterization of human liver `high Km` aldehyde dehydrogenase and its identification as glutamic gamma-semialdehyde dehydrogenase.", "journal": "The Journal of biological chemistry", "date": "1986", "authors": "Forte-McRobbie CM, Pietruszko R", "evidence": [ { "database": "Reactome", "id": "R-HSA-70688", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70688" } ], "reference": [ { "type": "PubMed", "id": "3944130", "url": "https://glygen.org/publication/PubMed/3944130" } ] }, { "title": "A model for p53-induced apoptosis.", "journal": "Nature", "date": "1997", "authors": "Kinzler K.W., Vogelstein B., Polyak K., Xia Y., Zweier J.L.", "evidence": [ { "database": "UniProtKB", "id": "O43272", "url": "https://www.uniprot.org/uniprot/O43272" } ], "reference": [ { "type": "PubMed", "id": "9305847", "url": "https://glygen.org/publication/PubMed/9305847" } ] }, { "title": "A human homologue of the Drosophila melanogaster sluggish-A (proline oxidase) gene maps to 22q11.2, and is a candidate gene for type-I hyperprolinaemia.", "journal": "Hum. Genet.", "date": "1997", "authors": "Young I.G., Campbell H.D., Webb G.C.", "evidence": [ { "database": "UniProtKB", "id": "O43272", "url": "https://www.uniprot.org/uniprot/O43272" } ], "reference": [ { "type": "PubMed", "id": "9385373", "url": "https://glygen.org/publication/PubMed/9385373" } ] }, { "title": "Mutations in the Delta1-pyrroline 5-carboxylate dehydrogenase gene cause type II hyperprolinemia.", "journal": "Human molecular genetics", "date": "1998", "authors": "Geraghty MT, Vaughn D, Nicholson AJ, Lin WW, Jimenez-Sanchez G, Obie C, Flynn MP, Valle D, Hu CA", "evidence": [ { "database": "Reactome", "id": "R-HSA-70688", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70688" } ], "reference": [ { "type": "PubMed", "id": "9700195", "url": "https://glygen.org/publication/PubMed/9700195" } ] } ], "pathway": [ { "id": "hsa:5625", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:5625", "resource": "KEGG Pathway" }, { "id": "R-HSA-70688", "name": 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"45230591", "url": "http://www.informatics.jax.org/homology/45230591", "database": "MGI" } ], "common_name": "Mouse" } ], "go_annotation": { "categories": [ { "name": "Biological Process", "total": 6, "go_terms": [ { "name": "regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway", "id": "GO:1903376", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903376", "evidence": [ { "database": "UniProtKB", "id": "O43272", "url": "https://www.uniprot.org/uniprot/O43272" } ], "pmid": "" }, { "name": "4-hydroxyproline catabolic process", "id": "GO:0019470", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019470", "evidence": [ { "database": "UniProtKB", "id": "O43272", "url": "https://www.uniprot.org/uniprot/O43272" } ], "pmid": "" }, { "name": "proline metabolic process", "id": "GO:0006560", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006560", "evidence": [ { "database": "UniProtKB", "id": "O43272", "url": "https://www.uniprot.org/uniprot/O43272" } ], "pmid": "" }, { "name": "proline catabolic process", "id": "GO:0006562", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006562", "evidence": [ { "database": "UniProtKB", "id": "O43272", "url": "https://www.uniprot.org/uniprot/O43272" } ], "pmid": "" }, { "name": "proline catabolic process to glutamate", "id": "GO:0010133", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010133", "evidence": [ { "database": "UniProtKB", "id": "O43272", "url": "https://www.uniprot.org/uniprot/O43272" } ], "pmid": "" }, { "name": "intrinsic apoptotic signaling pathway in response to oxidative stress", "id": "GO:0008631", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008631", "evidence": [ { "database": "UniProtKB", "id": "O43272", "url": "https://www.uniprot.org/uniprot/O43272" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 5, "go_terms": [ { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "O43272", "url": "https://www.uniprot.org/uniprot/O43272" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "O43272", "url": "https://www.uniprot.org/uniprot/O43272" } ], "pmid": "" }, { "name": "mitochondrial inner membrane", "id": "GO:0005743", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005743", "evidence": [ { "database": "UniProtKB", "id": "O43272", "url": "https://www.uniprot.org/uniprot/O43272" } ], "pmid": "" }, { "name": "mitochondrial matrix", "id": "GO:0005759", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005759", "evidence": [ { "database": "UniProtKB", "id": "O43272", "url": "https://www.uniprot.org/uniprot/O43272" } ], "pmid": "" }, { "name": "intracellular membrane-bounded organelle", "id": "GO:0043231", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043231", "evidence": [ { "database": "UniProtKB", "id": "O43272", "url": "https://www.uniprot.org/uniprot/O43272" } ], "pmid": "" } ] }, { "name": "Molecular Function", "total": 2, "go_terms": [ { "name": "FAD binding", "id": "GO:0071949", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071949", "evidence": [ { "database": "UniProtKB", "id": "O43272", "url": "https://www.uniprot.org/uniprot/O43272" } ], "pmid": "" }, { "name": "proline dehydrogenase activity", "id": "GO:0004657", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004657", "evidence": [ { "database": "UniProtKB", "id": "O43272", "url": "https://www.uniprot.org/uniprot/O43272" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 422, "end_pos": 424, "annotation": "n_glycosylation_sequon" }, { "start_pos": 568, "end_pos": 570, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], "reactions": [ { "id": "23784", "name": "", "equation": "a quinone + L-proline = (S)-1-pyrroline-5-carboxylate + a quinol + H(+)", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q2V057-1", "F1MAR6-1", "Q9UF12-1", "O43272-4", "Q8VCZ9-1", "Q9WU79-1", "P09368-1", "Q86H28-1", "Q04499-1" ], "evidence": [ { "id": "23784", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/23784" } ] }, { "id": "R-HSA-70670", "name": "PRODH oxidises L-Pro to 1PYR-5COOH", "equation": "", "summary": "The dehydrogenation (oxidation) of proline to L-1-pyrroline-5-carboxylate coupled to the conversion of FAD to FADH2 is the first step in proline breakdown (Bender et al. 2005). Proline dehydrogenase (PRODH), the enzyme that catalyzes this reaction, is found in liver, kidney, and brain cells, where it is tightly bound to the inner mitochondrial membrane.", "cellular_location": "mitochondrial inner membrane, mitochondrial matrix", "input_participant_list": [ "R-ALL-113597" ], "output_participant_list": [], "enzyme_list": [ "O43272-4" ], "evidence": [ { "id": "R-HSA-70670", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70670" } ] } ], "reaction_participants": [ { "participant_id": "R-ALL-113597", "participant_name": "FAD [mitochondrial inner membrane]", "crossref": [ { "id": "57692", "database": "ChEBI", "url": "" }, { "id": "000195756838", "database": "ZINC", "url": "" }, { "id": "C00016", "database": "COMPOUND", "url": "" }, { "id": "000008215434", "database": "ZINC", "url": "" }, { "id": "000008215434", "database": "ZINC", "url": "" }, { "id": "C00016", "database": "COMPOUND", "url": "" }, { "id": "000195756838", "database": "ZINC", "url": "" }, { "id": "57692", "database": "ChEBI", "url": "" }, { "id": "57692", "database": "ChEBI", "url": "" }, { "id": "000008215434", "database": "ZINC", "url": "" }, { "id": "000195756838", "database": "ZINC", "url": "" }, { "id": "C00016", "database": "COMPOUND", "url": "" }, { "id": "57692", "database": "ChEBI", "url": "" }, { "id": "000195756838", "database": "ZINC", "url": "" }, { "id": "C00016", "database": "COMPOUND", "url": "" }, { "id": "000008215434", "database": "ZINC", "url": "" }, { "id": "000008215434", "database": "ZINC", "url": "" }, { "id": "000195756838", "database": "ZINC", "url": "" }, { "id": "C00016", "database": "COMPOUND", "url": "" }, { "id": "57692", "database": "ChEBI", "url": "" }, { "id": "57692", "database": "ChEBI", "url": "" }, { "id": "000195756838", "database": "ZINC", "url": "" }, { "id": "C00016", "database": "COMPOUND", "url": "" }, { "id": "000008215434", "database": "ZINC", "url": "" } ] } ], "reaction_enzymes": [ { "uniprot_ac": "F1MAR6", "gene_name": "Prodh", "activity": [ { "ec_number": "1.5.5.2", "activity": "a quinone + L-proline = (S)-1-pyrroline-5-carboxylate + a quinol + H(+).", "evidence": [ { "id": "F1MAR6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/F1MAR6" } ] }, { "ec_number": "1.5.5.2", "activity": "", "evidence": [ { "id": "F1MAR6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/F1MAR6" } ] } ] }, { "uniprot_ac": "O43272", "gene_name": "PRODH", "activity": [ { "ec_number": "1.5.5.2", "activity": "a quinone + L-proline = (S)-1-pyrroline-5-carboxylate + a quinol + H(+).", "evidence": [ { "id": "O43272", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O43272" } ] }, { "ec_number": "1.5.5.2", "activity": "", "evidence": [ { "id": "O43272", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O43272" } ] } ] }, { "uniprot_ac": "P09368", "gene_name": "PUT1", "activity": [ { "ec_number": "1.5.5.2", "activity": "a quinone + L-proline = (S)-1-pyrroline-5-carboxylate + a quinol + H(+).", "evidence": [ { "id": "P09368", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P09368" } ] }, { "ec_number": "1.5.5.2", "activity": "", "evidence": [ { "id": "P09368", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P09368" } ] } ] }, { "uniprot_ac": "Q04499", "gene_name": "slgA", "activity": [ { "ec_number": "1.5.5.2", "activity": "a quinone + L-proline = (S)-1-pyrroline-5-carboxylate + a quinol + H(+).", "evidence": [ { "id": "Q04499", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q04499" } ] }, { "ec_number": "1.5.5.2", "activity": "", "evidence": [ { "id": "Q04499", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q04499" } ] } ] }, { "uniprot_ac": "Q2V057", "gene_name": "Prodh2", "activity": [ { "ec_number": "1.5.5.3", "activity": "a quinone + trans-4-hydroxy-L-proline = (3R,5S)-1-pyrroline-3-hydroxy-5-carboxylate + a quinol + H(+).", "evidence": [ { "id": "Q2V057", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q2V057" } ] }, { "ec_number": "1.5.5.2", "activity": "a quinone + L-proline = (S)-1-pyrroline-5-carboxylate + a quinol + H(+).", "evidence": [ { "id": "Q2V057", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q2V057" } ] }, { "ec_number": "1.5.5.3", "activity": "", "evidence": [ { "id": "Q2V057", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q2V057" } ] }, { "ec_number": "1.5.5.2", "activity": "", "evidence": [ { "id": "Q2V057", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q2V057" } ] } ] }, { "uniprot_ac": "Q86H28", "gene_name": "prodh", "activity": [ { "ec_number": "1.5.5.2", "activity": "a quinone + L-proline = (S)-1-pyrroline-5-carboxylate + a quinol + H(+).", "evidence": [ { "id": "Q86H28", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q86H28" } ] }, { "ec_number": "1.5.5.2", "activity": "", "evidence": [ { "id": "Q86H28", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q86H28" } ] } ] }, { "uniprot_ac": "Q8VCZ9", "gene_name": "Prodh2", "activity": [ { "ec_number": "1.5.5.2", "activity": "a quinone + L-proline = (S)-1-pyrroline-5-carboxylate + a quinol + H(+).", "evidence": [ { "id": "Q8VCZ9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8VCZ9" } ] }, { "ec_number": "1.5.5.2", "activity": "", "evidence": [ { "id": "Q8VCZ9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8VCZ9" } ] }, { "ec_number": "1.5.5.3", "activity": "a quinone + trans-4-hydroxy-L-proline = (3R,5S)-1-pyrroline-3-hydroxy-5-carboxylate + a quinol + H(+).", "evidence": [ { "id": "Q8VCZ9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8VCZ9" } ] }, { "ec_number": "1.5.5.3", "activity": "", "evidence": [ { "id": "Q8VCZ9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8VCZ9" } ] } ] }, { "uniprot_ac": "Q9UF12", "gene_name": "PRODH2", 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