{ "uniprot_canonical_ac": "P09417-1", "uniprot_ac": "P09417", "uniprot_id": "DHPR_HUMAN", "mass": { "chemical_mass": 25790.0, "monoisotopic_mass": 25790.0 }, "refseq": { "ac": "NP_000311", "name": "dihydropteridine reductase isoform 1", "summary": "This gene encodes the enzyme dihydropteridine reductase, which catalyzes the NADH-mediated reduction of quinonoid dihydrobiopterin. This enzyme is an essential component of the pterin-dependent aromatic amino acid hydroxylating systems. Mutations in this gene resulting in QDPR deficiency include aberrant splicing, amino acid substitutions, insertions, or premature terminations. Dihydropteridine reductase deficiency presents as atypical phenylketonuria due to insufficient production of biopterin, a cofactor for phenylalanine hydroxylase. [provided by RefSeq, Jul 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000311" }, "gene_names": [ { "name": "QDPR", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P09417", "id": "P09417" }, { "name": "DHPR; HDHPR; PKU2; SDR33C1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000311", "id": "NP_000311" }, { "name": "DHPR", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P09417", "id": "P09417" }, { "name": "QDPR", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000311", "id": "NP_000311" }, { "name": "SDR33C1", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P09417", "id": "P09417" }, { "name": "hCG_39606", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P09417", "id": "P09417" } ], "protein_names": [ { "name": "Dihydropteridine reductase", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P09417" }, { "name": "1.5.1.34", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P09417" }, { "name": "6,7-dihydropteridine reductase; testis secretory sperm-binding protein Li 236P; short chain dehydrogenase/reductase family 33C member 1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000311", "id": "NP_000311" }, { "name": "HDHPR", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P09417" }, { "name": "Quinoid dihydropteridine reductase", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P09417" }, { "name": "Short chain dehydrogenase/reductase family 33C member 1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P09417" }, { "name": "dihydropteridine reductase isoform 1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000311", "id": "NP_000311" } ], "function": [ { "annotation": "Catalyzes the conversion of quinonoid dihydrobiopterin into tetrahydrobiopterin.", "evidence": [ { "database": "UniProtKB", "id": "P09417", "url": "https://www.uniprot.org/uniprot/P09417#function" }, { "database": "PubMed", "id": "3033643", "url": "https://glygen.org/publication/PubMed/3033643" }, { "database": "PubMed", "id": "8262916", "url": "https://glygen.org/publication/PubMed/8262916" } ] }, { "annotation": "JP1 and JP2 can facilitate the assembly of DHPR with other proteins of the excitation-contraction coupling machinery", "evidence": [ { "database": "RefSeq", "id": "NP_000311", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000311" }, { "database": "PubMed", "id": "22020936", "url": "https://glygen.org/publication/PubMed/22020936" } ] }, { "annotation": "Mutation of dihydropteridine reductase (QDPR) inhibited the regulation of TOR serine-threonine kinases (mTOR), suggesting that QDPR is a positive regulator of autophagy via suppressing mTOR signaling.", "evidence": [ { "database": "RefSeq", "id": "NP_000311", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000311" }, { "database": "PubMed", "id": "28633336", "url": "https://glygen.org/publication/PubMed/28633336" } ] }, { "annotation": "Show for the first time statistically significant up regulation of iNOS in QDPR overexpressing astrocytes. Increased expression of iNOS associated with astrocyte pathology seen in many neurodegenerative disorders may have implications in autoimmune neurodegenerative disorders.", "evidence": [ { "database": "RefSeq", "id": "NP_000311", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000311" }, { "database": "PubMed", "id": "29355631", "url": "https://glygen.org/publication/PubMed/29355631" } ] }, { "annotation": "The allele frequencies for the QDPR c.68G > A(0.3%) polymorphism is not a major cause of Parkinson's disease in the Maltese. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_000311", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000311" }, { "database": "PubMed", "id": "27613114", "url": "https://glygen.org/publication/PubMed/27613114" } ] }, { "annotation": "The mutation spectrum of the QDPR gene is different in the Chinese population. Most mutations are related to severe phenotype.", "evidence": [ { "database": "RefSeq", "id": "NP_000311", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000311" }, { "database": "PubMed", "id": "25124972", "url": "https://glygen.org/publication/PubMed/25124972" } ] }, { "annotation": "This gene encodes the enzyme dihydropteridine reductase, which catalyzes the NADH-mediated reduction of quinonoid dihydrobiopterin. This enzyme is an essential component of the pterin-dependent aromatic amino acid hydroxylating systems. Mutations in this gene resulting in QDPR deficiency include aberrant splicing, amino acid substitutions, insertions, or premature terminations. Dihydropteridine reductase deficiency presents as atypical phenylketonuria due to insufficient production of biopterin, a cofactor for phenylalanine hydroxylase. [provided by RefSeq, Jul 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_000311", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000311" } ] } ], "disease": [ { "disease_id": "DOID:0081130", "recommended_name": { "id": "DOID:0081130", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0081130", "name": "BH4-deficient hyperphenylalaninemia C", "description": "A tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia that is characterized by hyperphenylalaninemia, depletion of the neurotransmitters dopamine and serotonin, and progressive cognitive and motor deficits and that has_material_basis_in homozygous or compound heterozygous mutation in the QDPR gene, which encodes an enzyme involved in the salvage pathway for BH4, on chromosome 4p15." }, "synonyms": [ { "id": "DOID:0081130", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0081130", "name": "tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia due to dihydropteridine reductase deficiency", "description": "" }, { "id": "MONDO:0009862", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009862", "name": "dihydropteridine reductase deficiency", "description": "Dihydropteridine reductase (DHPR) deficiency is a severe form of hyperphenylalaninemia (HPA) due to impaired regeneration of tetrahydrobiopterin (BH4), leading to decreased levels of neurotransmitters (dopamine, serotonin) and folate in cerebrospinal fluid, and causing neurological symptoms such as psychomotor delay, hypotonia, seizures, abnormal movements, hypersalivation, and swallowing difficulties." }, { "id": "MONDO:0009862", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009862", "name": "6,7-dihydropteridine reductase activity disease", "description": "" }, { "id": "MONDO:0009862", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009862", "name": "PKU type 2", "description": "" }, { "id": "MONDO:0009862", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009862", "name": "dihydropteridine reductase deficiency", "description": "" }, { "id": "MONDO:0009862", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009862", "name": "disorder of 6,7-dihydropteridine reductase activity", "description": "" }, { "id": "MONDO:0009862", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009862", "name": "hyperphenylalaninemia due to dihydropteridine reductase deficiency", "description": "" }, { "id": "MONDO:0009862", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009862", "name": "hyperphenylalaninemia, BH4-deficient C", "description": "" }, { "id": "MONDO:0009862", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009862", "name": "hyperphenylalaninemia, Bh4-deficient, type C", "description": "" }, { "id": "MONDO:0009862", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009862", "name": "phenylketonuria type 2", "description": "" }, { "id": "MONDO:0009862", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009862", "name": "DHPR deficiency", "description": "" }, { "id": "MONDO:0009862", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009862", "name": "HPABH4C", "description": "" }, { "id": "MONDO:0009862", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009862", "name": "Qdpr deficiency", "description": "" }, { "id": "MONDO:0009862", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009862", "name": "hyperphenylalaninemia, BH-4-deficient, C", "description": "" }, { "id": "MONDO:0009862", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009862", "name": "hyperphenylalaninemia, BH4-deficient, C", "description": "" }, { "id": "MONDO:0009862", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009862", "name": "hyperphenylalaninemia, tetrahydrobiopterin-deficient, due to DHPR deficiency", "description": "" }, { "id": "MONDO:0009862", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009862", "name": "quinoid dihydropteridine reductase deficiency", "description": "" }, { "id": "MIM:261630", "resource": "MIM", "url": "https://www.omim.org/entry/261630", "name": "Hyperphenylalaninemia, BH4-deficient, C", "description": "Hyperphenylalaninemia, BH4-deficient, C" } ], "evidence": [ { "id": "261630", "database": "MIM", "url": "https://www.omim.org/entry/261630" } ] } ], "snv": [], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "97.56", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000151552", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000151552" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "83.81", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000151552", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000151552" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "87.92", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000151552", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000151552" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "72.34", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000151552", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000151552" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "90.29", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000151552", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000151552" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "88.9", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000151552", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000151552" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "82.15", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000151552", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000151552" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "88.98", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000151552", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000151552" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "89.67", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000151552", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000151552" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "86.85", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000151552", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000151552" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "95.68", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000151552", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000151552" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "90.92", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000151552", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000151552" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "90.94", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000151552", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000151552" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "up", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "P09417", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P09417" } ], "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", 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"https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, 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"https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "P09417", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P09417" } ], "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 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"https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", 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"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": 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"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 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P09417" } ], "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 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": "P09417", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P09417" } ], "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "A thoracic cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "P09417", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P09417" } ], "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid neoplasm", "description": "" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Kidney cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:263", "evidence": [ { "database": "BioXpress", "id": "P09417", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P09417" } ], "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { "database": "BioXpress", "id": "P09417", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P09417" } ], "disease": [ { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "liver cancer", "description": "A hepatobiliary system cancer that is located_in the liver." }, "synonyms": [ { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "non-resectable primary hepatic malignant neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary liver cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "resectable malignant neoplasm of the liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, not specified as primary or secondary", "description": "" } ] } ] }, { "significant": "No", "trend": "up", "name": "Uterine cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:363", "evidence": [ { "database": "BioXpress", "id": "P09417", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P09417" } ], "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ] } ] }, { "significant": "No", "trend": "down", "name": "Esophageal cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:5041", "evidence": [ { "database": "BioXpress", "id": "P09417", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P09417" } ], "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 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"Protein" ] }, { "id": "D6RHJ7", "url": "https://www.uniprot.org/uniprot/D6RHJ7", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "D6RHJ7-1", "url": "https://www.uniprot.org/uniprot/D6RHJ7-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0Y8F7", "url": "https://www.uniprot.org/uniprot/H0Y8F7", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0Y8F7-1", "url": "https://www.uniprot.org/uniprot/H0Y8F7-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P09417", "url": "https://www.uniprot.org/uniprot/P09417", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P09417-1", "url": "https://www.uniprot.org/uniprot/P09417-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P09417-2", "url": "https://www.uniprot.org/uniprot/P09417-2", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MAAAAAAGEARRVLVYGGRGALGSRCVQAFRARNWWVASVDVVENEEASASIIVKMTDSFTEQADQVTAEVGKLLGEEKVDAILCVAGGWAGGNAKSKSLFKNCDLMWKQSIWTSTISSHLATKHLKEGGLLTLAGAKAALDGTPGMIGYGMAKGAVHQLCQSLAGKNSGMPPGAAAIAVLPVTLDTPMNRKSMPEADFSSWTPLEFLVETFHDWITGKNRPSSGSLIQVVTTEGRTELTPAYF", "length": 244, "header": "sp|P09417-1|DHPR_HUMAN Isoform 1 of Dihydropteridine reductase OS=Homo sapiens OX=9606 GN=QDPR PE=1 SV=2 CANONICAL=P09417-1" }, "isoforms": [ { "isoform_ac": "B7Z415-1", "url": "", "sequence": { "sequence": "MAAAAAAGEARRVLVYGGRGALGSRCVQAFRARNWWVASVDVVENEEASASIIVKMTDSFTEQADQVTAEVGKLLGEEKVDAILCVAGGWAGGNAKSKSLFKNCDLMWKQSIWTSTISSHLATKHLKEGGLLTLAGAKAALDGTPGLPWIPR", "length": 152, "header": "tr|B7Z415-1|DHPR_HUMAN Computationally mapped isoform of Dihydropteridine reductase OS=Homo sapiens OX=9606 GN=QDPR PE=1 SV=1 CANONICAL=P09417-1" }, "locus": { "chromosome": "4", "start_pos": 17512054, "end_pos": 17490726, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000513615.5", "url": "https://www.ensembl.org/id/ENST00000513615.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000422759.1", "url": "https://www.ensembl.org/id/ENSP00000422759.1" } ] } }, { "isoform_ac": "D6RGG7-1", "url": "", "sequence": { "sequence": "MAAAAAAGEARRVLVYGGRGALGSRCVQAFRARNWWVASVDVVENEEASASIIVKMTDSFTEQADQVTAEVGKLLGEEKVDAILCVAGGWAGGNAKSKSLFKNCDLMWKQSIWTSTISSHLATKHLKEGGLLTLAGAKAALDGTPELSMTGSQGKTDRAQEA", "length": 162, "header": "tr|D6RGG7-1|D6RGG7_HUMAN Computationally mapped isoform of Quinoid dihydropteridine reductase OS=Homo sapiens OX=9606 GN=QDPR PE=1 SV=1 CANONICAL=P09417-1" }, "locus": { "chromosome": "4", "start_pos": 17512054, "end_pos": 17487187, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000508623.5", "url": "https://www.ensembl.org/id/ENST00000508623.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000426377.1", "url": "https://www.ensembl.org/id/ENSP00000426377.1" } ] } }, { "isoform_ac": "D6RHJ7-1", "url": "", "sequence": { "sequence": "MAAAAAAGEARRVLVYGGRGALGSRCVQAFRARNWI", "length": 36, "header": "tr|D6RHJ7-1|D6RHJ7_HUMAN Computationally mapped isoform of Quinoid dihydropteridine reductase OS=Homo sapiens OX=9606 GN=QDPR PE=1 SV=1 CANONICAL=P09417-1" }, "locus": { "chromosome": "4", "start_pos": 17512054, "end_pos": 17509973, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000514300.1", "url": "https://www.ensembl.org/id/ENST00000514300.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000426039.1", "url": "https://www.ensembl.org/id/ENSP00000426039.1" } ] } }, { "isoform_ac": "H0Y8F7-1", "url": "", "sequence": { "sequence": "XCVQAFRARNWWVASVDVVENEEASASIIVKMTDSFTEQADQVTAEVGKLLGEEKVDAILCVAGGWAGGNAKSKSLFKNCDLMWKQSIWTSTISSHLATKHLKEGGLLTLAGAKAALDGTPGLPWIPR", "length": 128, "header": "tr|H0Y8F7-1|H0Y8F7_HUMAN Computationally mapped isoform of Quinoid dihydropteridine reductase OS=Homo sapiens OX=9606 GN=QDPR PE=1 SV=1 CANONICAL=P09417-1" }, "locus": { "chromosome": "4", "start_pos": 17511981, "end_pos": 17490725, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000505710.1", "url": "https://www.ensembl.org/id/ENST00000505710.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000420873.1", "url": "https://www.ensembl.org/id/ENSP00000420873.1" } ] } }, { "isoform_ac": "P09417-1", "url": "", "sequence": { "sequence": "MAAAAAAGEARRVLVYGGRGALGSRCVQAFRARNWWVASVDVVENEEASASIIVKMTDSFTEQADQVTAEVGKLLGEEKVDAILCVAGGWAGGNAKSKSLFKNCDLMWKQSIWTSTISSHLATKHLKEGGLLTLAGAKAALDGTPGMIGYGMAKGAVHQLCQSLAGKNSGMPPGAAAIAVLPVTLDTPMNRKSMPEADFSSWTPLEFLVETFHDWITGKNRPSSGSLIQVVTTEGRTELTPAYF", "length": 244, "header": "sp|P09417-1|DHPR_HUMAN Isoform 1 of Dihydropteridine reductase OS=Homo sapiens OX=9606 GN=QDPR PE=1 SV=2 CANONICAL=P09417-1" }, "locus": { "chromosome": "4", "start_pos": 17512054, "end_pos": 17487134, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000281243.10", "url": "https://www.ensembl.org/id/ENST00000281243.10" }, { "database": "Ensembl Peptide", "id": "ENSP00000281243.5", "url": "https://www.ensembl.org/id/ENSP00000281243.5" } ] } }, { "isoform_ac": "P09417-2", "url": "", "sequence": { "sequence": "MAAAAAAGEARRVLVYGGRGALGSRCVQAFRARNWVTAEVGKLLGEEKVDAILCVAGGWAGGNAKSKSLFKNCDLMWKQSIWTSTISSHLATKHLKEGGLLTLAGAKAALDGTPGMIGYGMAKGAVHQLCQSLAGKNSGMPPGAAAIAVLPVTLDTPMNRKSMPEADFSSWTPLEFLVETFHDWITGKNRPSSGSLIQVVTTEGRTELTPAYF", "length": 213, "header": "sp|P09417-2|DHPR_HUMAN Isoform 2 of Dihydropteridine reductase OS=Homo sapiens OX=9606 GN=QDPR PE=1 SV=2 CANONICAL=P09417-1" }, "locus": { "chromosome": "4", "start_pos": 17512054, "end_pos": 17487134, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000428702.6", "url": "https://www.ensembl.org/id/ENST00000428702.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000390944.2", "url": "https://www.ensembl.org/id/ENSP00000390944.2" } ] } } ], "glycosylation": [], "phosphorylation": [ { "start_pos": 133, "end_pos": 133, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P09417", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P09417" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Thr133" }, { "start_pos": 223, "end_pos": 223, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "phospho.ELM", "id": "P09417", "url": "http://phospho.elm.eu.org/byAccession/P09417.html" }, { "database": "iPTMnet", "id": "P09417", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P09417" }, { "database": "PubMed", "id": "8137944", "url": "https://glygen.org/publication/PubMed/8137944" } ], "site_lbl": "Ser223" } ], "glycation": [], "keywords": [ "enzyme" ], "publication": [ { "title": "A series of mutations in the dihydropteridine reductase gene resulting in either abnormal RNA splicing or DHPR protein defects. Mutations in brief no. 244. Online.", "journal": "Human mutation", "date": "1999", "authors": "Smooker PM, Gough TJ, Cotton RG, Alliaudi C, de Sanctis L, Dianzani I", "evidence": [ { "database": "UniProtKB", "id": "P09417", "url": "https://www.uniprot.org/uniprot/P09417" } ], "reference": [ { "type": "PubMed", "id": "10408783", "url": "https://glygen.org/publication/PubMed/10408783" } ] }, { "title": "Molecular analysis of 16 Turkish families with DHPR deficiency using denaturing gradient gel electrophoresis (DGGE).", "journal": "Human genetics", "date": "2000", "authors": "Romstad A, Kalkanoglu HS, Coskun T, Demirkol M, Tokatli A, Dursun A, Baykal T, Ozalp I, Guldberg P, Guttler F", "evidence": [ { "database": "UniProtKB", "id": "P09417", "url": "https://www.uniprot.org/uniprot/P09417" } ], "reference": [ { "type": "PubMed", "id": "11153907", "url": "https://glygen.org/publication/PubMed/11153907" } ] }, { "title": "Crystal structure of human kynurenine aminotransferase I.", "journal": "The Journal of biological chemistry", "date": "2004", "authors": "Rossi F, Han Q, Li J, Li J, Rizzi M", "evidence": [ { "database": "Reactome", "id": "R-HSA-8964208", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8964208" } ], "reference": [ { "type": "PubMed", "id": "15364907", "url": "https://glygen.org/publication/PubMed/15364907" } ] }, { "title": "Human IL4I1 is a secreted L-phenylalanine oxidase expressed by mature dendritic cells that inhibits T-lymphocyte proliferation.", "journal": "Blood", "date": "2007", "authors": "Boulland ML, Marquet J, Molinier-Frenkel V, Moller P, Guiter C, Lasoudris F, Copie-Bergman C, Baia M, Gaulard P, Leroy K, Castellano F", "evidence": [ { "database": "Reactome", "id": "R-HSA-8964208", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8964208" } ], "reference": [ { "type": "PubMed", "id": "17356132", "url": "https://glygen.org/publication/PubMed/17356132" } ] }, { "title": "Structural insight into the inhibition of human kynurenine aminotransferase I/glutamine transaminase K.", "journal": "Journal of medicinal chemistry", "date": "2009", "authors": "Han Q, Robinson H, Cai T, Tagle DA, Li J", "evidence": [ { "database": "Reactome", "id": "R-HSA-8964208", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8964208" } ], "reference": [ { "type": "PubMed", "id": "19338303", "url": "https://glygen.org/publication/PubMed/19338303" } ] }, { "title": "The human asparaginase-like protein 1 hASRGL1 is an Ntn hydrolase with beta-aspartyl peptidase activity.", "journal": "Biochemistry", "date": "2009", "authors": "Cantor JR, Stone EM, Chantranupong L, Georgiou G", "evidence": [ { "database": "Reactome", "id": "R-HSA-8964208", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8964208" } ], "reference": [ { "type": "PubMed", "id": "19839645", "url": "https://glygen.org/publication/PubMed/19839645" } ] }, { "title": "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.", "journal": "Science signaling", "date": "2010", "authors": "Olsen JV, Vermeulen M, Santamaria A, Kumar C, Miller ML, Jensen LJ, Gnad F, Cox J, Jensen TS, Nigg EA, Brunak S, Mann M", "evidence": [ { "database": "iPTMnet", "id": "P09417-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P09417-1" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] }, { "title": "Insertion of an extra codon for threonine is a cause of dihydropteridine reductase deficiency.", "journal": "American journal of human genetics", "date": "1990", "authors": "Howells DW, Forrest SM, Dahl HH, Cotton RG", "evidence": [ { "database": "UniProtKB", "id": "P09417", "url": "https://www.uniprot.org/uniprot/P09417" } ], "reference": [ { "type": "PubMed", "id": "2116088", "url": "https://glygen.org/publication/PubMed/2116088" } ] }, { "title": "Junctophilin 1 and 2 proteins interact with the L-type Ca2+ channel dihydropyridine receptors (DHPRs) in skeletal muscle.", "journal": "The Journal of biological chemistry", "date": "2011", "authors": "Golini L, Chouabe C, Berthier C, Cusimano V, Fornaro M, Bonvallet R, Formoso L, Giacomello E, Jacquemond V, Sorrentino V", "evidence": [ { "database": "RefSeq", "id": "NP_000311", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000311" } ], "reference": [ { "type": "PubMed", "id": "22020936", "url": "https://glygen.org/publication/PubMed/22020936" } ] }, { "title": "Comparative large scale characterization of plant versus mammal proteins reveals similar and idiosyncratic N-alpha-acetylation features.", "journal": "Molecular & cellular proteomics : MCP", "date": "2012", "authors": "Bienvenut WV, Sumpton D, Martinez A, Lilla S, Espagne C, Meinnel T, Giglione C", "evidence": [ { "database": "UniProtKB", "id": "P09417", "url": "https://www.uniprot.org/uniprot/P09417" } ], "reference": [ { "type": "PubMed", "id": "22223895", "url": "https://glygen.org/publication/PubMed/22223895" } ] }, { "title": "Structures of apo and product-bound human L-asparaginase: insights into the mechanism of autoproteolysis and substrate hydrolysis.", "journal": "Biochemistry", "date": "2012", "authors": "Nomme J, Su Y, Konrad M, Lavie A", "evidence": [ { "database": "Reactome", "id": "R-HSA-8964208", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8964208" } ], "reference": [ { "type": "PubMed", "id": "22861376", "url": "https://glygen.org/publication/PubMed/22861376" } ] }, { "title": "Uncoupling intramolecular processing and substrate hydrolysis in the N-terminal nucleophile hydrolase hASRGL1 by circular permutation.", "journal": "ACS chemical biology", "date": "2012", "authors": "Li W, Cantor JR, Yogesha SD, Yang S, Chantranupong L, Liu JQ, Agnello G, Georgiou G, Stone EM, Zhang Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-8964208", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8964208" } ], "reference": [ { "type": "PubMed", "id": "22891768", "url": "https://glygen.org/publication/PubMed/22891768" } ] }, { "title": "Elucidation of the specific function of the conserved threonine triad responsible for human L-asparaginase autocleavage and substrate hydrolysis.", "journal": "Journal of molecular biology", "date": "2014", "authors": "Nomme J, Su Y, Lavie A", "evidence": [ { "database": "Reactome", "id": "R-HSA-8964208", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8964208" } ], "reference": [ { "type": "PubMed", "id": "24768817", "url": "https://glygen.org/publication/PubMed/24768817" } ] }, { "title": "QDPR gene mutation and clinical follow-up in Chinese patients with dihydropteridine reductase deficiency.", "journal": "World journal of pediatrics : WJP", "date": "2014", "authors": "Lu DY, Ye J, Han LS, Qiu WJ, Zhang HW, Zhou JD, Bao PZ, Zhang YF, Gu XF", "evidence": [ { "database": "RefSeq", "id": "NP_000311", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000311" } ], "reference": [ { "type": "PubMed", "id": "25124972", "url": "https://glygen.org/publication/PubMed/25124972" } ] }, { "title": "Genetic causes of Parkinson's disease in the Maltese: a study of selected mutations in LRRK2, MTHFR, QDPR and SPR.", "journal": "BMC medical genetics", "date": "2016", "authors": "Zahra C, Tabone C, Camilleri G, Felice AE, Farrugia R, Bezzina Wettinger S", "evidence": [ { "database": "RefSeq", "id": "NP_000311", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000311" } ], "reference": [ { "type": "PubMed", "id": "27613114", "url": "https://glygen.org/publication/PubMed/27613114" } ] }, { "title": "A278C mutation of dihydropteridine reductase decreases autophagy via mTOR signaling.", "journal": "Acta biochimica et biophysica Sinica", "date": "2017", "authors": "Si Q, Sun S, Gu Y", "evidence": [ { "database": "RefSeq", "id": "NP_000311", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000311" } ], "reference": [ { "type": "PubMed", "id": "28633336", "url": "https://glygen.org/publication/PubMed/28633336" } ] }, { "title": "Expression and Purification of Quinine Dihydro Pteridine Reductase from astrocytes and its significance in the astrocyte pathology.", "journal": "International journal of biological macromolecules", "date": "2018", "authors": "Chandrashekaran S, Karthikeyan S, Balakrishnan A, Nair S, Satheesh Kumar MK, Vattathara JJ, Menon KN", "evidence": [ { "database": "RefSeq", "id": "NP_000311", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000311" } ], "reference": [ { "type": "PubMed", "id": "29355631", "url": "https://glygen.org/publication/PubMed/29355631" } ] }, { "title": "Human dihydropteridine reductase: characterisation of a cDNA clone and its use in analysis of patients with dihydropteridine reductase deficiency.", "journal": "Nucleic Acids Res.", "date": "1987", "authors": "Dahl HH, Hutchison W, McAdam W, Wake S, Morgan FJ, Cotton RG", "evidence": [ { "database": "UniProtKB", "id": "P09417", "url": "https://www.uniprot.org/uniprot/P09417" } ], "reference": [ { "type": "PubMed", "id": "3031582", "url": "https://glygen.org/publication/PubMed/3031582" } ] }, { "title": "Structure and expression of human dihydropteridine reductase.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1987", "authors": "Lockyer J, Cook RG, Milstien S, Kaufman S, Woo SL, Ledley FD", "evidence": [ { "database": "UniProtKB", "id": "P09417", "url": "https://www.uniprot.org/uniprot/P09417" }, { "database": "Reactome", "id": "R-HSA-8964208", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8964208" } ], "reference": [ { "type": "PubMed", "id": "3033643", "url": "https://glygen.org/publication/PubMed/3033643" } ] }, { "title": "Molecular basis of dihydropteridine reductase deficiency.", "journal": "Hum. 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}, { "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": 2 }, { "field": "total_sites", "count": 2 } ], "sort_fields": [ "start_pos", "end_pos", "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 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": 31 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }