{ "uniprot_canonical_ac": "P07738-1", "uniprot_ac": "P07738", "uniprot_id": "PMGE_HUMAN", "mass": { "chemical_mass": 30005.0, "monoisotopic_mass": 30005.0 }, "refseq": { "ac": "NP_001280014", "name": "bisphosphoglycerate mutase", "summary": "2,3-diphosphoglycerate (2,3-DPG) is a small molecule found at high concentrations in red blood cells where it binds to and decreases the oxygen affinity of hemoglobin. This gene encodes a multifunctional enzyme that catalyzes 2,3-DPG synthesis via its synthetase activity, and 2,3-DPG degradation via its phosphatase activity. The enzyme also has phosphoglycerate phosphomutase activity. Deficiency of this enzyme increases the affinity of cells for oxygen. Mutations in this gene result in hemolytic anemia. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Sep 2009].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001280014" }, "gene_names": [ { "name": "BPGM", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P07738", "id": "P07738" }, { "name": "BPGM", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001280014", "id": "NP_001280014" }, { "name": "DPGM; ECYT8", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001280014", "id": "NP_001280014" } ], "protein_names": [ { "name": "Bisphosphoglycerate mutase", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P07738" }, { "name": "2,3-bisphosphoglycerate mutase, erythrocyte", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P07738" }, { "name": "2,3-bisphosphoglycerate synthase", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P07738" }, { "name": "2,3-diphosphoglycerate mutase", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P07738" }, { "name": "5.4.2.11", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P07738" }, { "name": "5.4.2.4", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P07738" }, { "name": "BPG-dependent PGAM", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P07738" }, { "name": "BPGM", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P07738" }, { "name": "DPGM", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P07738" }, { "name": "bisphosphoglycerate mutase", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001280014", "id": "NP_001280014" }, { "name": "erythrocyte 2,3-bisphosphoglycerate mutase; 2,3-diphosphoglycerate mutase; 2,3-bisphosphoglycerate synthase; 2,3-bisphosphoglycerate mutase, erythrocyte; BPG-dependent PGAM; testis secretory sperm-binding protein Li 202a", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001280014", "id": "NP_001280014" } ], "function": [ { "annotation": "2,3-diphosphoglycerate (2,3-DPG) is a small molecule found at high concentrations in red blood cells where it binds to and decreases the oxygen affinity of hemoglobin. This gene encodes a multifunctional enzyme that catalyzes 2,3-DPG synthesis via its synthetase activity, and 2,3-DPG degradation via its phosphatase activity. The enzyme also has phosphoglycerate phosphomutase activity. Deficiency of this enzyme increases the affinity of cells for oxygen. Mutations in this gene result in hemolytic anemia. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Sep 2009].", "evidence": [ { "database": "RefSeq", "id": "NP_001280014", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001280014" } ] }, { "annotation": "Dysregulation of bisphosphoglycerate mutase during in vitro maturation of oocytes.", "evidence": [ { "database": "RefSeq", "id": "NP_001280014", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001280014" }, { "database": "PubMed", "id": "34052998", "url": "https://glygen.org/publication/PubMed/34052998" } ] }, { "annotation": "Heterozygosity for bisphosphoglycerate mutase deficiency expressing clinically as congenital erythrocytosis: A case series and literature review. Review article", "evidence": [ { "database": "RefSeq", "id": "NP_001280014", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001280014" }, { "database": "PubMed", "id": "36177683", "url": "https://glygen.org/publication/PubMed/36177683" } ] }, { "annotation": "Plays a major role in regulating hemoglobin oxygen affinity by controlling the levels of its allosteric effector 2,3-bisphosphoglycerate (2,3-BPG). Also exhibits mutase (EC 5.4.2.11) activity.", "evidence": [ { "database": "UniProtKB", "id": "C9JH23", "url": "https://www.uniprot.org/uniprot/C9JH23#function" }, { "database": "UniProtKB", "id": "ARBA00037462", "url": "https://www.uniprot.org/uniprot/ARBA00037462#function" }, { "database": "UniProtKB", "id": "P07738", "url": "https://www.uniprot.org/uniprot/P07738#function" }, { "database": "PubMed", "id": "21045285", "url": "https://glygen.org/publication/PubMed/21045285" } ] } ], "disease": [ { "disease_id": "DOID:0111630", "recommended_name": { "id": "DOID:0111630", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111630", "name": "familial erythrocytosis 8", "description": "A primary polycythemia characterized by erythrocytosis and in some cases hemolytic anemia that has_material_basis_in homozygous or compound heterozygous mutation in the BPGM gene on chromosome 7q33." }, "synonyms": [ { "id": "DOID:0111630", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111630", "name": "diphosphoglycerate mutase deficiency of erythrocyte", "description": "" }, { "id": "DOID:0111630", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111630", "name": "BPGM deficiency", "description": "" }, { "id": "DOID:0111630", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111630", "name": "DPGM deficiency", "description": "" }, { "id": "DOID:0111630", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111630", "name": "ECYT8", "description": "" }, { "id": "DOID:0111630", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111630", "name": "bisphosphoglycerate mutase deficiency", "description": "" }, { "id": "DOID:0111630", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111630", "name": "bisphosphoglyceromutase deficiency", "description": "" }, { "id": "DOID:0111630", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111630", "name": "hemolytic anemia due to diphosphoglycerate mutase deficiency", "description": "" }, { "id": "MONDO:0009113", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009113", "name": "hemolytic anemia due to diphosphoglycerate mutase deficiency", "description": "A rare, autosomal recessive, inherited disorder caused by mutation of the BPGM gene. It is characterized by hemolytic anemia and splenomegaly." }, { "id": "MONDO:0009113", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009113", "name": "diphosphoglycerate phosphatase deficiency", "description": "" }, { "id": "MONDO:0009113", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009113", "name": "erythrocytosis, familial, 8", "description": "" }, { "id": "MONDO:0009113", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009113", "name": "BPGM deficiency", "description": "" }, { "id": "MONDO:0009113", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009113", "name": "DPGM deficiency", "description": "" }, { "id": "MONDO:0009113", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009113", "name": "bisphosphoglycerate mutase deficiency", "description": "" }, { "id": "MONDO:0009113", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009113", "name": "bisphosphoglyceromutase deficiency", "description": "" }, { "id": "MONDO:0009113", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009113", "name": "diphosphoglycerate mutase deficiency of erythrocyte", "description": "" }, { "id": "MIM:222800", "resource": "MIM", "url": "https://www.omim.org/entry/222800", "name": "Erythrocytosis, familial, 8", "description": "Erythrocytosis, familial, 8" } ], "evidence": [ { "id": "222800", "database": "MIM", "url": "https://www.omim.org/entry/222800" } ] } ], "snv": [], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "80.79", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000172331", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000172331" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "84.6", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000172331", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000172331" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "68.42", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000172331", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000172331" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "49.96", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000172331", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000172331" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "85.82", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000172331", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000172331" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "84.35", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000172331", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000172331" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "47.76", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000172331", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000172331" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "81.3", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000172331", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000172331" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "80.02", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000172331", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000172331" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "61.1", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000172331", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000172331" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "72.81", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000172331", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000172331" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "81.76", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000172331", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000172331" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "81.03", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000172331", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000172331" } ] } ], "expression_disease": [ { "significant": "No", "trend": "down", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "P07738", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P07738" } ], "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, on chromosome 7", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, hereditary", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "P07738", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P07738" } ], "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", 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"https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, intestinal", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "P07738", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P07738" } ], "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": 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"https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Head and neck cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "P07738", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P07738" } ], "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 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This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx." }, "synonyms": [ { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck tumours", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head/neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "tumor of head and neck", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Lung cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1324", "evidence": [ { "database": "BioXpress", "id": "P07738", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P07738" } ], "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": "P07738", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P07738" } ], "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": "P07738", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P07738" } ], "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": "P07738", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P07738" } ], "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": "up", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { "database": "BioXpress", "id": "P07738", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P07738" } ], "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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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P07738" } ], "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": "up", "name": "Esophageal cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:5041", "evidence": [ { "database": "BioXpress", "id": "P07738", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P07738" } ], "disease": [ { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": 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"tr|C9JH23-1|PMGE_HUMAN Computationally mapped isoform of Bisphosphoglycerate mutase OS=Homo sapiens OX=9606 GN=BPGM PE=1 SV=1 CANONICAL=P07738-1" }, "locus": { "chromosome": "7", "start_pos": 134661741, "end_pos": 134661508, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000443095.1", "url": "https://www.ensembl.org/id/ENST00000443095.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000403050.1", "url": "https://www.ensembl.org/id/ENSP00000403050.1" } ] } }, { "isoform_ac": "P07738-1", "url": "", "sequence": { "sequence": "MSKYKLIMLRHGEGAWNKENRFCSWVDQKLNSEGMEEARNCGKQLKALNFEFDLVFTSVLNRSIHTAWLILEELGQEWVPVESSWRLNERHYGALIGLNREQMALNHGEEQVRLWRRSYNVTPPPIEESHPYYQEIYNDRRYKVCDVPLDQLPRSESLKDVLERLLPYWNERIAPEVLRGKTILISAHGNSSRALLKHLEGISDEDIINITLPTGVPILLELDENLRAVGPHQFLGDQEAIQAAIKKVEDQGKVKQAKK", "length": 259, "header": "sp|P07738-1|PMGE_HUMAN Isoform 1 of Bisphosphoglycerate mutase OS=Homo sapiens OX=9606 GN=BPGM PE=1 SV=2 CANONICAL=P07738-1" }, "locus": { "chromosome": "7", "start_pos": 134679028, "end_pos": 134661508, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000393132.2", "url": "https://www.ensembl.org/id/ENST00000393132.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000376840.2", "url": "https://www.ensembl.org/id/ENSP00000376840.2" } ] } } ], "glycosylation": [], "phosphorylation": [ { "start_pos": 122, "end_pos": 122, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "Phosphothreonine", "evidence": [ { "database": "UniProtKB", "id": "P07738", "url": "https://www.uniprot.org/uniprot/P07738" }, { "database": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" }, { "database": "iPTMnet", "id": "P07738", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P07738" } ], "site_lbl": "Thr122" } ], "glycation": [ { "start_pos": 159, "end_pos": 159, "glytoucan_ac": "", "type": "N-linked", "residue": "Lys", "comment": "N-linked (Glc) (glycation) lysine", "evidence": [ { "database": "UniProtKB", "id": "P07738", "url": "https://www.uniprot.org/uniprot/P07738#ptm_processing" }, { "database": "PubMed", "id": "9832630", "url": "https://glygen.org/publication/PubMed/9832630" } ], "relation": "attached" }, { "start_pos": 18, "end_pos": 18, "glytoucan_ac": "", "type": "N-linked", "residue": "Lys", "comment": "N-linked (Glc) (glycation) lysine; in vitro", "evidence": [ { "database": "UniProtKB", "id": "P07738", "url": "https://www.uniprot.org/uniprot/P07738#ptm_processing" }, { "database": "PubMed", "id": "9832630", "url": "https://glygen.org/publication/PubMed/9832630" } ], "relation": "attached" }, { "start_pos": 197, "end_pos": 197, "glytoucan_ac": "", "type": "N-linked", "residue": "Lys", "comment": "N-linked (Glc) (glycation) lysine; in vitro", "evidence": [ { "database": "UniProtKB", "id": "P07738", "url": "https://www.uniprot.org/uniprot/P07738#ptm_processing" }, { "database": "PubMed", "id": "9832630", "url": "https://glygen.org/publication/PubMed/9832630" } ], "relation": "attached" }, { "start_pos": 3, "end_pos": 3, "glytoucan_ac": "", "type": "N-linked", "residue": "Lys", "comment": "N-linked (Glc) (glycation) lysine; in vitro", "evidence": [ { "database": "UniProtKB", "id": "P07738", "url": "https://www.uniprot.org/uniprot/P07738#ptm_processing" }, { "database": "PubMed", "id": "9832630", "url": "https://glygen.org/publication/PubMed/9832630" } ], "relation": "attached" }, { "start_pos": 43, "end_pos": 43, "glytoucan_ac": "", "type": "N-linked", "residue": "Lys", "comment": "N-linked (Glc) (glycation) lysine; in vitro", "evidence": [ { "database": "UniProtKB", "id": "P07738", "url": "https://www.uniprot.org/uniprot/P07738#ptm_processing" }, { "database": "PubMed", "id": "9832630", "url": "https://glygen.org/publication/PubMed/9832630" } ], "relation": "attached" }, { "start_pos": 5, "end_pos": 5, "glytoucan_ac": "", "type": "N-linked", "residue": "Lys", "comment": 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J.", "date": "1999", "authors": "Mulquiney P J, Kuchel P W", "evidence": [ { "database": "UniProtKB", "id": "P07738", "url": "https://www.uniprot.org/uniprot/P07738" } ], "reference": [ { "type": "PubMed", "id": "10477269", "url": "https://glygen.org/publication/PubMed/10477269" } ] }, { "title": "Human glyceraldehyde 3-phosphate dehydrogenase-2 gene is expressed specifically in spermatogenic cells.", "journal": "Journal of andrology", "date": "2000", "authors": "Welch JE, Brown PL, O'Brien DA, Magyar PL, Bunch DO, Mori C, Eddy EM", "evidence": [ { "database": "Reactome", "id": "R-HSA-70171", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70171" } ], "reference": [ { "type": "PubMed", "id": "10714828", "url": "https://glygen.org/publication/PubMed/10714828" } ] }, { "title": "The crystal structure of human phosphoglucose isomerase at 1.6 A resolution: implications for catalytic mechanism, cytokine activity and haemolytic anaemia.", "journal": "Journal of molecular biology", "date": "2001", "authors": "Read J, Pearce J, Li X, Muirhead H, Chirgwin J, Davies C", "evidence": [ { "database": "Reactome", "id": "R-HSA-70171", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70171" } ], "reference": [ { "type": "PubMed", "id": "11371164", "url": "https://glygen.org/publication/PubMed/11371164" } ] }, { "title": "Beta-enolase deficiency, a new metabolic myopathy of distal glycolysis.", "journal": "Annals of neurology", "date": "2001", "authors": "Comi GP, Fortunato F, Lucchiari S, Bordoni A, Prelle A, Jann S, Keller A, Ciscato P, Galbiati S, Chiveri L, Torrente Y, Scarlato G, Bresolin N", "evidence": [ { "database": "Reactome", "id": "R-HSA-70171", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70171" } ], "reference": [ { "type": "PubMed", "id": "11506403", "url": "https://glygen.org/publication/PubMed/11506403" } ] }, { "title": "GLUT2 in pancreatic and extra-pancreatic gluco-detection (review).", "journal": "Molecular membrane biology", "date": "2001", "authors": "Thorens B", "evidence": [ { "database": "Reactome", "id": "R-HSA-70171", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70171" } ], "reference": [ { "type": "PubMed", "id": "11780755", "url": "https://glygen.org/publication/PubMed/11780755" } ] }, { "title": "Cloning and functional characterization of GNPI2, a novel human homolog of glucosamine-6-phosphate isomerase/oscillin.", "journal": "Journal of cellular biochemistry", "date": "2003", "authors": "Zhang J, Zhang W, Zou D, Chen G, Wan T, Li N, Cao X", "evidence": [ { "database": "Reactome", "id": "R-HSA-70171", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70171" } ], "reference": [ { "type": "PubMed", "id": "12616532", "url": "https://glygen.org/publication/PubMed/12616532" } ] }, { "title": "Characterization of phosphoglycerate kinase from human spermatozoa.", "journal": "Fertility and sterility", "date": "1976", "authors": "Chen SH, Donahue RP, Scott CR", "evidence": [ { "database": "Reactome", "id": "R-HSA-70171", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70171" } ], "reference": [ { "type": "PubMed", "id": "1278465", "url": "https://glygen.org/publication/PubMed/1278465" } ] }, { "title": "Two mammalian glucosamine-6-phosphate deaminases: a structural and genetic study.", "journal": "FEBS letters", "date": "2003", "authors": "Arreola R, Valderrama B, Morante ML, Horjales E", "evidence": [ { "database": "Reactome", "id": "R-HSA-70171", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70171" } ], "reference": [ { "type": "PubMed", "id": "12965206", "url": "https://glygen.org/publication/PubMed/12965206" } ] }, { "title": "Enzymes of the human erythrocyte. IV. Phosphoglucose isomerase, purification and properties.", "journal": "The Journal of biological chemistry", "date": "1958", "authors": "TSUBOI KK, ESTRADA J, HUDSON PB", "evidence": [ { "database": "Reactome", "id": "R-HSA-70171", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70171" } ], "reference": [ { "type": "PubMed", "id": "13538944", "url": "https://glygen.org/publication/PubMed/13538944" } ] }, { "title": "Structural modeling of the human erythrocyte bisphosphoglycerate mutase.", "journal": "Biochimie", "date": "1992", "authors": "Craescu C T, Schaad O, Garel M C, Rosa R, Edelstein S", "evidence": [ { "database": "UniProtKB", "id": "P07738", "url": "https://www.uniprot.org/uniprot/P07738" } ], "reference": [ { "type": "PubMed", "id": "1387804", "url": "https://glygen.org/publication/PubMed/1387804" } ] }, { "title": "Compound heterozygosity in a complete erythrocyte bisphosphoglycerate mutase deficiency.", "journal": "Blood", "date": "1992", "authors": "Lemarchandel V, Joulin V, Valentin C, Rosa R, Galacteros F, Rosa J, Cohen-Solal M", "evidence": [ { "database": "UniProtKB", "id": "P07738", "url": "https://www.uniprot.org/uniprot/P07738" } ], "reference": [ { "type": "PubMed", "id": "1421379", "url": "https://glygen.org/publication/PubMed/1421379" } ] }, { "title": "Erythrocytosis due to bisphosphoglycerate mutase deficiency with concurrent glucose-6-phosphate dehydrogenase (G-6-PD) deficiency.", "journal": "American journal of hematology", "date": "2004", "authors": "Hoyer JD, Allen SL, Beutler E, Kubik K, West C, Fairbanks VF", "evidence": [ { "database": "UniProtKB", "id": "P07738", "url": "https://www.uniprot.org/uniprot/P07738" } ], "reference": [ { "type": "PubMed", "id": "15054810", "url": "https://glygen.org/publication/PubMed/15054810" } ] }, { "title": "Crystal structure of human bisphosphoglycerate mutase.", "journal": "J. Biol. Chem.", "date": "2004", "authors": "Wang Y, Wei Z, Bian Q, Cheng Z, Wan M, Liu L, Gong W", "evidence": [ { "database": "UniProtKB", "id": "P07738", "url": "https://www.uniprot.org/uniprot/P07738" } ], "reference": [ { "type": "PubMed", "id": "15258155", "url": "https://glygen.org/publication/PubMed/15258155" } ] }, { "title": "Phosphoglycerate mutase BB isoenzyme deficiency in a patient with non-spherocytic anemia: familial and metabolic studies.", "journal": "Haematologica", "date": "2005", "authors": "Repiso A, Ramirez Bajo MJ, Corrons JL, Carreras J, Climent F", "evidence": [ { "database": "Reactome", "id": "R-HSA-70171", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70171" } ], "reference": [ { "type": "PubMed", "id": "15710582", "url": "https://glygen.org/publication/PubMed/15710582" } ] }, { "title": "Novel placental expression of 2,3-bisphosphoglycerate mutase.", "journal": "Placenta", "date": "2006", "authors": "Pritlove D C, Gu M, Boyd C A R, Randeva H S, Vatish M", "evidence": [ { "database": "UniProtKB", "id": "P07738", "url": "https://www.uniprot.org/uniprot/P07738" } ], "reference": [ { "type": "PubMed", "id": "16246416", "url": "https://glygen.org/publication/PubMed/16246416" } ] }, { "title": "Structure of a high-resolution crystal form of human triosephosphate isomerase: improvement of crystals using the gel-tube method.", "journal": "Acta crystallographica. Section F, Structural biology and crystallization communications", "date": "2005", "authors": "Kinoshita T, Maruki R, Warizaya M, Nakajima H, Nishimura S", "evidence": [ { "database": "Reactome", "id": "R-HSA-70171", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70171" } ], "reference": [ { "type": "PubMed", "id": "16511037", "url": "https://glygen.org/publication/PubMed/16511037" } ] }, { "title": "Seeing the process of histidine phosphorylation in human bisphosphoglycerate mutase.", "journal": "The Journal of biological chemistry", "date": "2006", "authors": "Wang Y, Liu L, Wei Z, Cheng Z, Lin Y, Gong W", "evidence": [ { "database": "UniProtKB", "id": "P07738", "url": "https://www.uniprot.org/uniprot/P07738" } ], "reference": [ { "type": "PubMed", "id": "17052986", "url": "https://glygen.org/publication/PubMed/17052986" } ] }, { "title": "Molecular identification of mammalian phosphopentomutase and glucose-1,6-bisphosphate synthase, two members of the alpha-D-phosphohexomutase family.", "journal": "The Journal of biological chemistry", "date": "2007", "authors": "Maliekal P, Sokolova T, Vertommen D, Veiga-da-Cunha M, Van Schaftingen E", "evidence": [ { "database": "Reactome", "id": "R-HSA-70171", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70171" } ], "reference": [ { "type": "PubMed", "id": "17804405", "url": "https://glygen.org/publication/PubMed/17804405" } ] }, { "title": "Isozymes of glyceraldehyde-3-phosphate dehydrogenase in man and other mammals.", "journal": "Annals of human genetics", "date": "1976", "authors": "Edwards YH, Clark P, Harris H", "evidence": [ { "database": "Reactome", "id": "R-HSA-70171", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70171" } ], "reference": [ { "type": "PubMed", "id": "183598", "url": "https://glygen.org/publication/PubMed/183598" } ] }, { "title": "Human liver glucokinase gene: cloning and sequence determination of two alternatively spliced cDNAs.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1991", "authors": "Tanizawa Y, Koranyi LI, Welling CM, Permutt MA", "evidence": [ { "database": "Reactome", "id": "R-HSA-70171", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70171" } ], "reference": [ { "type": "PubMed", "id": "1871135", "url": "https://glygen.org/publication/PubMed/1871135" } ] }, { "title": "Crystalline d-glyceraldehyde-3-phosphate dehydrogenase from rabbit muscle.", "journal": "The Journal of biological chemistry", "date": "1948", "authors": "CORI GT, SLEIN MW, CORI CF", "evidence": [ { "database": "Reactome", "id": "R-HSA-70171", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70171" } ], "reference": [ { "type": "PubMed", "id": "18910716", "url": "https://glygen.org/publication/PubMed/18910716" } ] }, { "title": "The prosthetic group of crystalline d-glyceraldehyde-3-phosphate dehydrogenase.", "journal": "The Journal of biological chemistry", "date": "1948", "authors": "TAYLOR JF, VELICK SF, et al.", "evidence": [ { "database": "Reactome", "id": "R-HSA-70171", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70171" } ], "reference": [ { "type": "PubMed", "id": "18910717", "url": "https://glygen.org/publication/PubMed/18910717" } ] }, { "title": "Mammalian phosphomannomutase PMM1 is the brain IMP-sensitive glucose-1,6-bisphosphatase.", "journal": "The Journal of biological chemistry", "date": "2008", "authors": "Veiga-da-Cunha M, Vleugels W, Maliekal P, Matthijs G, Van Schaftingen E", "evidence": [ { "database": "Reactome", "id": "R-HSA-70171", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70171" } ], "reference": [ { "type": "PubMed", "id": "18927083", "url": "https://glygen.org/publication/PubMed/18927083" } ] }, { "title": "Unliganded structure of human bisphosphoglycerate mutase reveals side-chain movements induced by ligand binding.", "journal": "Acta crystallographica. Section F, Structural biology and crystallization communications", "date": "2010", "authors": "Patterson A, Price NC, Nairn J", "evidence": [ { "database": "UniProtKB", "id": "P07738", "url": "https://www.uniprot.org/uniprot/P07738" } ], "reference": [ { "type": "PubMed", "id": "21045285", "url": "https://glygen.org/publication/PubMed/21045285" } ] }, { "title": "Expression and role in glycolysis of human ADP-dependent glucokinase.", "journal": "Molecular and cellular biochemistry", "date": "2012", "authors": "Richter S, Richter JP, Mehta SY, Gribble AM, Sutherland-Smith AJ, Stowell KM, Print CG, Ronimus RS, Wilson WR", "evidence": [ { "database": "Reactome", "id": "R-HSA-70171", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70171" } ], "reference": [ { "type": "PubMed", "id": "22219026", "url": "https://glygen.org/publication/PubMed/22219026" } ] }, { "title": "T cell activation is driven by an ADP-dependent glucokinase linking enhanced glycolysis with mitochondrial reactive oxygen species generation.", "journal": "Cell reports", "date": "2012", "authors": "Kaminski MM, Sauer SW, Kaminski M, Opp S, Ruppert T, Grigaravicius P, Grudnik P, Grone HJ, Krammer PH, Gulow K", "evidence": [ { "database": "Reactome", "id": "R-HSA-70171", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70171" } ], "reference": [ { "type": "PubMed", "id": "23168256", "url": "https://glygen.org/publication/PubMed/23168256" } ] }, { "title": "Disruption of a spermatogenic cell-specific mouse enolase 4 (eno4) gene causes sperm structural defects and male infertility.", "journal": "Biology of reproduction", "date": "2013", "authors": "Nakamura N, Dai Q, Williams J, Goulding EH, Willis WD, Brown PR, Eddy EM", "evidence": [ { "database": "Reactome", "id": "R-HSA-70171", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70171" } ], "reference": [ { "type": "PubMed", "id": "23446454", "url": "https://glygen.org/publication/PubMed/23446454" } ] }, { "title": "An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.", "journal": "Journal of proteomics", "date": "2014", "authors": "Bian Y, Song C, Cheng K, Dong M, Wang F, Huang J, Sun D, Wang L, Ye M, Zou H", "evidence": [ { "database": "UniProtKB", "id": "P07738", "url": "https://www.uniprot.org/uniprot/P07738" }, { "database": "iPTMnet", "id": "P07738", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P07738" } ], "reference": [ { "type": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" } ] }, { "title": "Tau-crystallin/alpha-enolase: one gene encodes both an enzyme and a lens structural protein.", "journal": "The Journal of cell biology", "date": "1988", "authors": "Wistow GJ, Lietman T, Williams LA, Stapel SO, de Jong WW, Horwitz J, Piatigorsky J", "evidence": [ { "database": "Reactome", "id": "R-HSA-70171", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70171" } ], "reference": [ { "type": "PubMed", "id": "2462567", "url": "https://glygen.org/publication/PubMed/2462567" } ] }, { "title": "Isolation, characterization, and structure of a mutant 89 Arg----Cys bisphosphoglycerate mutase. Implication of the active site in the mutation.", "journal": "The Journal of biological chemistry", "date": "1989", "authors": "Rosa R, Blouquit Y, Calvin MC, Prome D, Prome JC, Rosa J", "evidence": [ { "database": "UniProtKB", "id": "P07738", "url": "https://www.uniprot.org/uniprot/P07738" } ], "reference": [ { "type": "PubMed", "id": "2542247", "url": "https://glygen.org/publication/PubMed/2542247" } ] }, { "title": "Coordinated regulatory variation associated with gestational hyperglycaemia regulates expression of the novel hexokinase HKDC1.", "journal": "Nature communications", "date": "2015-02-04", "authors": "Guo Cong, Ludvik Anton E, Arlotto Michelle E, Hayes M Geoffrey, Armstrong Loren L, Scholtens Denise M, Brown Christopher D, Newgard Christopher B, Becker Thomas C, Layden Brian T, Lowe William L, Reddy Timothy E", "evidence": [ { "database": "Reactome", "id": "R-HSA-70171", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70171" } ], "reference": [ { "type": "PubMed", "id": "25648650", "url": "https://glygen.org/publication/PubMed/25648650" } ] }, { "title": "Identification of a mammalian glycerol-3-phosphate phosphatase: Role in metabolism and signaling in pancreatic beta-cells and hepatocytes.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2016", "authors": "Mugabo Y, Zhao S, Seifried A, Gezzar S, Al-Mass A, Zhang D, Lamontagne J, Attane C, Poursharifi P, Iglesias J, Joly E, Peyot ML, Gohla A, Madiraju SR, Prentki M", "evidence": [ { "database": "Reactome", "id": "R-HSA-70171", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70171" } ], "reference": [ { "type": "PubMed", "id": "26755581", "url": "https://glygen.org/publication/PubMed/26755581" } ] }, { "title": "Members of the human glyceraldehyde-3-phosphate dehydrogenase-related gene family map to dispersed chromosomal locations.", "journal": "Genomics", "date": "1989", "authors": "Benham FJ, Povey S", "evidence": [ { "database": "Reactome", "id": "R-HSA-70171", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70171" } ], "reference": [ { "type": "PubMed", "id": "2793178", "url": "https://glygen.org/publication/PubMed/2793178" } ] }, { "title": "Isolation and characterization of the human 2,3-bisphosphoglycerate mutase gene.", "journal": "J. Biol. Chem.", "date": "1988", "authors": "Joulin V, Garel MC, Le Boulch P, Valentin C, Rosa R, Rosa J, Cohen-Solal M", "evidence": [ { "database": "UniProtKB", "id": "P07738", "url": "https://www.uniprot.org/uniprot/P07738" } ], "reference": [ { "type": "PubMed", "id": "2844822", "url": "https://glygen.org/publication/PubMed/2844822" } ] }, { "title": "Sequence of the human erythrocyte phosphoglycerate mutase by microsequencer and mass spectrometry.", "journal": "The Journal of biological chemistry", "date": "1988", "authors": "Blouquit Y, Calvin MC, Rosa R, Prome D, Prome JC, Pratbernou F, Cohen-Solal M, Rosa J", "evidence": [ { "database": "Reactome", "id": "R-HSA-70171", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70171" } ], "reference": [ { "type": "PubMed", "id": "2846554", "url": "https://glygen.org/publication/PubMed/2846554" } ] }, { "title": "Characterization of the enzymatic defect in late-onset muscle phosphofructokinase deficiency. New subtype of glycogen storage disease type VII.", "journal": "The Journal of clinical investigation", "date": "1987", "authors": "Vora S, DiMauro S, Spear D, Harker D, Danon MJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-70171", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70171" } ], "reference": [ { "type": "PubMed", "id": "2960695", "url": "https://glygen.org/publication/PubMed/2960695" } ] }, { "title": "Molecular cloning and sequencing of the human erythrocyte 2,3-bisphosphoglycerate mutase cDNA: revised amino acid sequence.", "journal": "EMBO J.", "date": "1986", "authors": "Joulin V, Peduzzi J, Rom\u00e9o P H, Rosa R, Valentin C, Dubart A, Lapeyre B, Blouquit Y, Garel M C, Goossens M", "evidence": [ { "database": "UniProtKB", "id": "P07738", "url": "https://www.uniprot.org/uniprot/P07738" } ], "reference": [ { "type": "PubMed", "id": "3023066", "url": "https://glygen.org/publication/PubMed/3023066" } ] }, { "title": "Molecular cloning of the human 2,3-bisphosphoglycerate mutase cDNA and revised amino acid sequence.", "journal": "Biomed. Biochim. Acta", "date": "1987", "authors": "Cohen-Solal M, Joulin V, Romeo P H, Rosa R, Valentin C, Garel M C, Rosa J", "evidence": [ { "database": "UniProtKB", "id": "P07738", "url": "https://www.uniprot.org/uniprot/P07738" } ], "reference": [ { "type": "PubMed", "id": "3036106", "url": "https://glygen.org/publication/PubMed/3036106" } ] }, { "title": "Hepatic HKDC1 Expression Contributes to Liver Metabolism.", "journal": "Endocrinology", "date": "2019", "authors": "Pusec CM, De Jesus A, Khan MW, Terry AR, Ludvik AE, Xu K, Giancola N, Pervaiz H, Daviau Smith E, Ding X, Harrison S, Chandel NS, Becker TC, Hay N, Ardehali H, Cordoba-Chacon J, Layden BT", "evidence": [ { "database": "Reactome", "id": "R-HSA-70171", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70171" } ], "reference": [ { "type": "PubMed", "id": "30517626", "url": "https://glygen.org/publication/PubMed/30517626" } ] }, { "title": "Isolation and complete sequence of a functional human glyceraldehyde-3-phosphate dehydrogenase gene.", "journal": "The Journal of biological chemistry", "date": "1988", "authors": "Ercolani L, Florence B, Denaro M, Alexander M", "evidence": [ { "database": "Reactome", "id": "R-HSA-70171", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70171" } ], "reference": [ { "type": "PubMed", "id": "3170585", "url": "https://glygen.org/publication/PubMed/3170585" } ] }, { "title": "Complete amino acid sequence of the neurone-specific gamma isozyme of enolase (NSE) from human brain and comparison with the non-neuronal alpha form (NNE).", "journal": "European journal of biochemistry", "date": "1988", "authors": "McAleese SM, Dunbar B, Fothergill JE, Hinks LJ, Day IN", "evidence": [ { "database": "Reactome", "id": "R-HSA-70171", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70171" } ], "reference": [ { "type": "PubMed", "id": "3208766", "url": "https://glygen.org/publication/PubMed/3208766" } ] }, { "title": "The complete amino acid sequence of human skeletal-muscle fructose-bisphosphate aldolase.", "journal": "The Biochemical journal", "date": "1988", "authors": "Freemont PS, Dunbar B, Fothergill-Gilmore LA", "evidence": [ { "database": "Reactome", "id": "R-HSA-70171", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70171" } ], "reference": [ { "type": "PubMed", "id": "3355497", "url": "https://glygen.org/publication/PubMed/3355497" } ] }, { "title": "Dysregulation of bisphosphoglycerate mutase during in vitro maturation of oocytes.", "journal": "Journal of assisted reproduction and genetics", "date": "2021", "authors": "Lim M, Brown HM, Rose RD, Thompson JG, Dunning KR", "evidence": [ { "database": "RefSeq", "id": "NP_001280014", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001280014" } ], "reference": [ { "type": "PubMed", "id": "34052998", "url": "https://glygen.org/publication/PubMed/34052998" } ] }, { "title": "Human testis-specific PGK gene lacks introns and possesses characteristics of a processed gene.", "journal": "Nature", "date": "1987", "authors": "McCarrey JR, Thomas K", "evidence": [ { "database": "Reactome", "id": "R-HSA-70171", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70171" } ], "reference": [ { "type": "PubMed", "id": "3453121", "url": "https://glygen.org/publication/PubMed/3453121" } ] }, { "title": "Hexokinase domain-containing protein-1 in metabolic diseases and beyond.", "journal": "Trends in endocrinology and metabolism: TEM", "date": "2022-01", "authors": "Zapater Joseph L, Lednovich Kristen R, Khan Md Wasim, Pusec Carolina M, Layden Brian T", "evidence": [ { "database": "Reactome", "id": "R-HSA-70171", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70171" } ], "reference": [ { "type": "PubMed", "id": "34782236", "url": "https://glygen.org/publication/PubMed/34782236" } ] }, { "title": "Molecular cloning and nucleotide sequence of a full-length cDNA for human alpha enolase.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1986", "authors": "Giallongo A, Feo S, Moore R, Croce CM, Showe LC", "evidence": [ { "database": "Reactome", "id": "R-HSA-70171", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70171" } ], "reference": [ { "type": "PubMed", "id": "3529090", "url": "https://glygen.org/publication/PubMed/3529090" } ] }, { "title": "Heterozygosity for bisphosphoglycerate mutase deficiency expressing clinically as congenital erythrocytosis: A case series and literature review.", "journal": "British journal of haematology", "date": "2022-09-30", "authors": "van Dijk Myrthe J, van Oirschot Brigitte A, Stam-Slob Manon C, Waanders Esm\u00e9, van der Zwaag Bert, van Beers Eduard J, Jans Judith J M, van der Linden Peter Willem, Torregrosa Diaz Jose M, Gardie Betty, Girodon Fran\u00e7ois, Schots Rik, Thielen Noortje, van Wijk Richard", "evidence": [ { "database": "RefSeq", "id": "NP_001280014", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001280014" } ], "reference": [ { "type": "PubMed", "id": "36177683", "url": "https://glygen.org/publication/PubMed/36177683" } ] }, { "title": "Enolase isoenzymes in rat tissues. Electrophoretic, chromatographic, immunological and kinetic properties.", "journal": "Biochimica et biophysica acta", "date": "1974", "authors": "Rider CC, Taylor CB", "evidence": [ { "database": "Reactome", "id": "R-HSA-70171", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70171" } ], "reference": [ { "type": "PubMed", "id": "4413246", "url": "https://glygen.org/publication/PubMed/4413246" } ] }, { "title": "X-ray diffraction study of binding of 2,3-diphosphoglycerate to human deoxyhaemoglobin.", "journal": "Nature", "date": "1972", "authors": "Arnone A", "evidence": [ { "database": "Reactome", "id": "R-HSA-70171", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70171" } ], "reference": [ { "type": "PubMed", "id": "4555506", "url": "https://glygen.org/publication/PubMed/4555506" } ] }, { "title": "Phosphoglycerate mutase isozyme marker for tissue differentiation in man.", "journal": "American journal of human genetics", "date": "1974", "authors": "Omenn GS, Cheung SC", "evidence": [ { "database": "Reactome", "id": "R-HSA-70171", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70171" } ], "reference": [ { "type": "PubMed", "id": "4827367", "url": "https://glygen.org/publication/PubMed/4827367" } ] }, { "title": "Human phosphoglycerate kinase. I. Crystallization and characterization of normal enzyme.", "journal": "The Journal of biological chemistry", "date": "1972", "authors": "Yoshida A, Watanabe S", "evidence": [ { "database": "Reactome", "id": "R-HSA-70171", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70171" } ], "reference": [ { "type": "PubMed", "id": "5009693", "url": "https://glygen.org/publication/PubMed/5009693" } ] }, { "title": "The purification and properties of diphosphoglycerate mutase from human erythrocytes.", "journal": "The Journal of biological chemistry", "date": "1968", "authors": "Rose ZB", "evidence": [ { "database": "Reactome", "id": "R-HSA-70171", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70171" } ], "reference": [ { "type": "PubMed", "id": "5687724", "url": "https://glygen.org/publication/PubMed/5687724" } ] }, { "title": "The complete amino acid sequence of human erythrocyte diphosphoglycerate mutase.", "journal": "EMBO J.", "date": "1983", "authors": "Haggarty N W, Dunbar B, Fothergill L A", "evidence": [ { "database": "UniProtKB", "id": "P07738", "url": "https://www.uniprot.org/uniprot/P07738" } ], "reference": [ { "type": "PubMed", "id": "6313356", "url": "https://glygen.org/publication/PubMed/6313356" } ] }, { "title": "Primary structure of human triosephosphate isomerase.", "journal": "The Journal of biological chemistry", "date": "1984", "authors": "Lu HS, Yuan PM, Gracy RW", "evidence": [ { "database": "Reactome", "id": "R-HSA-70171", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70171" } ], "reference": [ { "type": "PubMed", "id": "6434534", "url": "https://glygen.org/publication/PubMed/6434534" } ] }, { "title": "Isozymes of human phosphofructokinase: identification and subunit structural characterization of a new system.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1980", "authors": "Vora S, Seaman C, Durham S, Piomelli S", "evidence": [ { "database": "Reactome", "id": "R-HSA-70171", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70171" } ], "reference": [ { "type": "PubMed", "id": "6444721", "url": "https://glygen.org/publication/PubMed/6444721" } ] }, { "title": "Isozymes of human phosphofructokinase in blood cells and cultured cell lines: molecular and genetic evidence for a trigenic system.", "journal": "Blood", "date": "1981", "authors": "Vora S", "evidence": [ { "database": "Reactome", "id": "R-HSA-70171", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70171" } ], "reference": [ { "type": "PubMed", "id": "6451249", "url": "https://glygen.org/publication/PubMed/6451249" } ] }, { "title": "Human skeletal-muscle aldolase: N-terminal sequence analysis of CNBr- and o-iodosobenzoic acid-cleavage fragments.", "journal": "Archives of biochemistry and biophysics", "date": "1984", "authors": "Freemont PS, Dunbar B, Fothergill LA", "evidence": [ { "database": "Reactome", "id": "R-HSA-70171", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70171" } ], "reference": [ { "type": "PubMed", "id": "6696436", "url": "https://glygen.org/publication/PubMed/6696436" } ] }, { "title": "Complete amino acid sequence of human phosphoglycerate kinase. Isolation and amino acid sequence of tryptic peptides.", "journal": "The Journal of biological chemistry", "date": "1980", "authors": "Huang IY, Rubinfien E, Yoshida A", "evidence": [ { "database": "Reactome", "id": "R-HSA-70171", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70171" } ], "reference": [ { "type": "PubMed", "id": "6771269", "url": "https://glygen.org/publication/PubMed/6771269" } ] }, { "title": "Glyceraldehyde-3-phosphate dehydrogenase from human tissues.", "journal": "Methods in enzymology", "date": "1982", "authors": "Heinz F, Freimuller B", "evidence": [ { "database": "Reactome", "id": "R-HSA-70171", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70171" } ], "reference": [ { "type": "PubMed", "id": "7144574", "url": "https://glygen.org/publication/PubMed/7144574" } ] }, { "title": "Compartmentation of hexokinase in human blood cells. Characterization of soluble and particulate enzymes.", "journal": "Biochimica et biophysica acta", "date": "1982", "authors": "Rijksen G, Staal GE, Beks PJ, Streefkerk M, Akkerman JW", "evidence": [ { "database": "Reactome", "id": "R-HSA-70171", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70171" } ], "reference": [ { "type": "PubMed", "id": "7150652", "url": "https://glygen.org/publication/PubMed/7150652" } ] }, { "title": "Complete amino acid sequence of human phosphoglycerate kinase. Cyanogen bromide peptides and complete amino acid sequence.", "journal": "The Journal of biological chemistry", "date": "1980", "authors": "Huang IY, Welch CD, Yoshida A", "evidence": [ { "database": "Reactome", "id": "R-HSA-70171", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70171" } ], "reference": [ { "type": "PubMed", "id": "7391027", "url": "https://glygen.org/publication/PubMed/7391027" } ] }, { "title": "Diverse mutations in the aldolase B gene that underlie the prevalence of hereditary fructose intolerance.", "journal": "American journal of human genetics", "date": "1995", "authors": "Ali M, Cox TM", "evidence": [ { "database": "Reactome", "id": "R-HSA-70171", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70171" } ], "reference": [ { "type": "PubMed", "id": "7717389", "url": "https://glygen.org/publication/PubMed/7717389" } ] }, { "title": "Functional expression of human mutant phosphofructokinase in yeast: genetic defects in French Canadian and Swiss patients with phosphofructokinase deficiency.", "journal": "American journal of human genetics", "date": "1995", "authors": "Raben N, Exelbert R, Spiegel R, Sherman JB, Nakajima H, Plotz P, Heinisch J", "evidence": [ { "database": "Reactome", "id": "R-HSA-70171", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70171" } ], "reference": [ { "type": "PubMed", "id": "7825568", "url": "https://glygen.org/publication/PubMed/7825568" } ] }, { "title": "The characterization of gene mutations for human glucose phosphate isomerase deficiency associated with chronic hemolytic anemia.", "journal": "The Journal of clinical investigation", "date": "1994", "authors": "Xu W, Beutler E", "evidence": [ { "database": "Reactome", "id": "R-HSA-70171", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70171" } ], "reference": [ { "type": "PubMed", "id": "7989588", "url": "https://glygen.org/publication/PubMed/7989588" } ] }, { "title": "Cloning of a complete protein-coding sequence of human platelet-type phosphofructokinase isozyme from pancreatic islet.", "journal": "Biochemical and biophysical research communications", "date": "1994", "authors": "Eto K, Sakura H, Yasuda K, Hayakawa T, Kawasaki E, Moriuchi R, Nagataki S, Yazaki Y, Kadowaki T", "evidence": [ { "database": "Reactome", "id": "R-HSA-70171", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70171" } ], "reference": [ { "type": "PubMed", "id": "8117307", "url": "https://glygen.org/publication/PubMed/8117307" } ] }, { "title": "Structure/function studies of human beta-cell glucokinase. Enzymatic properties of a sequence polymorphism, mutations associated with diabetes, and other site-directed mutants.", "journal": "The Journal of biological chemistry", "date": "1993", "authors": "Takeda J, Gidh-Jain M, Xu LZ, Froguel P, Velho G, Vaxillaire M, Cohen D, Shimada F, Makino H, Nishi S, et al.", "evidence": [ { "database": "Reactome", "id": "R-HSA-70171", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70171" } ], "reference": [ { "type": "PubMed", "id": "8325892", "url": "https://glygen.org/publication/PubMed/8325892" } ] }, { "title": "The platelet-activating factor acetylhydrolase from human erythrocytes. Purification and properties.", "journal": "J. Biol. Chem.", "date": "1993", "authors": "Stafforini D M, Rollins E N, Prescott S M, McIntyre T M", "evidence": [ { "database": "UniProtKB", "id": "P07738", "url": "https://www.uniprot.org/uniprot/P07738" } ], "reference": [ { "type": "PubMed", "id": "8440681", "url": "https://glygen.org/publication/PubMed/8440681" } ] }, { "title": "The molecular genetic basis of muscle phosphoglycerate mutase (PGAM) deficiency.", "journal": "American journal of human genetics", "date": "1993", "authors": "Tsujino S, Shanske S, Sakoda S, Fenichel G, DiMauro S", "evidence": [ { "database": "Reactome", "id": "R-HSA-70171", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-70171" } ], "reference": [ { "type": "PubMed", "id": "8447317", "url": "https://glygen.org/publication/PubMed/8447317" } ] }, { "title": "Human hexokinase II gene: exon-intron organization, mutation screening in NIDDM, and its relationship to muscle hexokinase activity.", "journal": "Diabetologia", "date": "1995", "authors": "Lehto M, 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process", "id": "GO:1901136", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901136", "evidence": [ { "database": "UniProtKB", "id": "P07738", "url": "https://www.uniprot.org/uniprot/P07738" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 2, "go_terms": [ { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "P07738", "url": "https://www.uniprot.org/uniprot/P07738" } ], "pmid": "" }, { "name": "extracellular exosome", "id": "GO:0070062", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070062", "evidence": [ { "database": "UniProtKB", "id": "P07738", "url": "https://www.uniprot.org/uniprot/P07738" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 120, "end_pos": 122, "annotation": "n_glycosylation_sequon" }, { "start_pos": 190, "end_pos": 192, "annotation": "n_glycosylation_sequon" }, { "start_pos": 209, "end_pos": 211, "annotation": "n_glycosylation_sequon" }, { "start_pos": 61, "end_pos": 63, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], "reactions": [ { "id": "15901", "name": "", "equation": "(2R)-2-phosphoglycerate = (2R)-3-phosphoglycerate", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P16290-1", "P25113-1", "Q6P6G4-1", "P07738-1", "P18669-1", "P15259-1", "Q8N0Y7-1", "P15327-1", "O70250-1", "Q9DBJ1-1", "P00950-1", "Q12008-1", "Q12326-1", "Q54NE6-1", "Q9VGB6-1", "Q9VAN7-1", "Q8T8W6-1" ], "evidence": [ { "id": "15901", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/15901" } ] }, { "id": "17765", "name": "", "equation": "(2R)-3-phospho-glyceroyl phosphate = (2R)-2,3-bisphosphoglycerate + H(+)", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P16290-1", "P25113-1", "Q6P6G4-1", "P07738-1", "P18669-1", "P15259-1", 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One of its functions is the isomerisation of 1,3-bisphosphoglycerate (1,3BPG) to 2,3-bisphosphoglycerate (2,3BPG) (Rose 1968). In red blood cells, 2,3BPG is the main allosteric effector of hemoglobin, binding preferentially to the deoxygenated hemoglobin tetramer, thus reducing oxygen affinity (Arnone 1972).", "cellular_location": "cytosol", "input_participant_list": [], "output_participant_list": [ "R-ALL-6798337" ], "enzyme_list": [ "P07738-1" ], "evidence": [ { "id": "R-HSA-6798335", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6798335" } ] } ], "reaction_participants": [ { "participant_id": "R-ALL-6798337", "participant_name": "2,3BPG [cytosol]", "crossref": [ { "id": "19324", "database": "ChEBI", "url": "" }, { "id": "000003869234", "database": "ZINC", "url": "" }, { "id": "000003869233", "database": "ZINC", "url": "" }, { "id": "000003869234", "database": "ZINC", "url": "" }, { "id": "19324", "database": "ChEBI", "url": "" }, { "id": "000003869233", "database": "ZINC", "url": "" }, { "id": "19324", "database": "ChEBI", "url": "" }, { "id": "000003869234", "database": 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